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	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	[tCw_to_G+tCw_to_T]_per_mut	tCw_to_G+tCw_to_T	BH_Fisher_p-value_tCw	APOBEC_enrich	tCw_to_G_enrich	tCw_to_T_enrich	p-value_GvT_skew	BH_p-value_GvT_skew	APOBEC_MutLoad_MinEstimate	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_TissueType	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_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
PCNXL2	80003	broad.mit.edu	37	chr1	233363071	233363071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	actgctctcggttaaattttCcttgtgttgaagaacatgac	8	8	1	3	rs183155622		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:233363071C>T	ENST00000258229.9	-	10	2639	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	802						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTAAATTTTCCTTGTGTTGA	0.398													C|||	1	0.000199681	0	0	5008	,	,		16570	0.001		0	False		,,,				2504	0					ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2404-2406)gGa>gAa		pecanex-like 2 (Drosophila)							93	88	90					1																	233363071		1835	4087	5922	SO:0001583	missense	80003					integral to membrane		g.chr1:233363071C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2405G>A	1.37:g.233363071C>T	ENSP00000258229:p.Gly802Glu					PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E	p.G802E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			10	2639	-		all_cancers(173;0.0347)|Prostate(94;0.137)	802					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2405G>A	CCDS44335.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.70	1.422783	0.25639	.	.	ENSG00000135749	ENST00000258229;ENST00000430153	T;T	0.46063	0.88;0.88	5.13	3.21	0.36854	.	.	.	.	.	T	0.18257	0.0438	N	0.10916	0.065	0.26709	N	0.971005	P;B	0.38078	0.617;0.036	B;B	0.33960	0.173;0.008	T	0.07290	-1.0780	9	0.09084	T	0.74	.	7.2124	0.25941	0.1387:0.7112:0.0:0.1501	.	101;802	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	E	802;101	ENSP00000258229:G802E;ENSP00000394703:G101E	ENSP00000258229:G802E	G	-	2	0	PCNXL2	231429694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.778000	0.47726	1.284000	0.44531	0.655000	0.94253	GGA		0.398	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	47	0	0	0	1	0	3	47					T	233363071	C	T	233363071	3	4	1	1	0	0	0	0	1	0	0	0	11592	855	30	3	4108	3	PCNXL2	1	233363071	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		233363071	15887550	1	1										
FMN2	56776	broad.mit.edu	37	chr1	240370244	240370244	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	ggccagtggtcatcaagggcTtgagaatggagtgacagcct	15	8	2	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:240370244T>A	ENST00000319653.9	+	5	2362	c.2132T>A	c.(2131-2133)cTt>cAt	p.L711H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	711					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATCAAGGGCTTGAGAATGGA	0.488																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2131-2133)cTt>cAt		formin 2							73	72	73					1																	240370244		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370244T>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2132T>A	1.37:g.240370244T>A	ENSP00000318884:p.Leu711His						p.L711H	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2362	+	Ovarian(103;0.127)	all_cancers(173;0.013)	711					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2132T>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	8.882	0.951953	0.18431	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27402	1.67	5.12	-2.76	0.05896	.	1.496520	0.04061	N	0.306433	T	0.15696	0.0378	N	0.22421	0.69	0.09310	N	1	P	0.41748	0.761	B	0.34824	0.19	T	0.15694	-1.0428	10	0.20519	T	0.43	.	4.6947	0.12797	0.1116:0.4417:0.104:0.3428	.	711	Q9NZ56	FMN2_HUMAN	H	148;711	ENSP00000318884:L711H	ENSP00000318884:L711H	L	+	2	0	FMN2	238436867	0.858000	0.29795	0.000000	0.03702	0.010000	0.07245	0.274000	0.18680	-0.386000	0.07821	-0.290000	0.09829	CTT		0.488	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	44	0	0	0	1	0	7	44					A	240370244	T	A	240370244	3	1	1	1	0	0	0	0	1	0	0	0	5950	1609	56	5	2150	5	FMN2	1	240370244	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	7007173	240370244	8880377	2	2										
ZNF496	84838	broad.mit.edu	37	chr1	247492595	247492595	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cacccagctctggatctcccGgggcaggatggccaggaact	13	14	2	0	rs533663170		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:247492595G>T	ENST00000294753.4	-	3	750	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	ZNF496_ENST00000366498.2_Silent_p.R96R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	96	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGATCTCCCGGGGCAGGATG	0.697																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(286-288)Cgg>Agg		zinc finger protein 496							27	32	30					1																	247492595		2202	4299	6501	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492595G>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.286C>A	1.37:g.247492595G>T						ZNF496_ENST00000366498.2_Silent_p.R96R	p.R96R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	750	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		96			SCAN box.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.286C>A	CCDS1631.1																																																																																				0.697	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		5	44	1	0	0.00116845	1	0.00123336	5	44					T	247492595	G	T	247492595	2	4	1	1	0	0	0	0	0	0	0	1	17942	1115	39	5		5	ZNF496	1	247492595	Silent	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08	7122351	247492595	1758026	3	3										
RGPD5	727851	broad.mit.edu	37	chr2	113146539	113146541	+	In_Frame_Del	DEL	TCT	TCT	-													0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	caaagtactgtccatctctcTcttcttcttgagtaacaaca							TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:113146539_113146541delTCT	ENST00000302558.3	-	20	4172_4174	c.3981_3983delAGA	c.(3979-3984)gaagag>gag	p.1327_1328EE>E	RGPD8_ENST00000409750.1_In_Frame_Del_p.1187_1188EE>E	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1327					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCCATCTCTCTCTTCTTCTTGAG	0.404																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3979-3984)gag>ga		RANBP2-like and GRIP domain containing 8																																				SO:0001651	inframe_deletion	727851							g.chr2:113146539_113146541delTCT	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3981_3983delAGA	2.37:g.113146545_113146547delTCT	ENSP00000306637:p.Glu1328del					RGPD8_ENST00000409750.1_In_Frame_Del_p.EE1187del	p.EE1327del	NM_001164463.1	NP_001157935.1					20	4172_4174	-								Q5CZA8	In_Frame_Del	DEL	ENST00000302558.3	37	c.3981_3983delAGA	CCDS46394.1																																																																																				0.404	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		2	4						2	4	---	---	---	---	-	113146541	TCT	-	113146539	7	5	1	1	0	1	0	1	0	0	0	0	13289	1551	54	0	12344	0	RGPD5	2	113146539	In_Frame_Del	DEL	TCT	TCGA-P7-A5NX-01A-11D-A35D-08		113146539	130052834	4	4										
TTN	7273	broad.mit.edu	37	chr2	179454380	179454380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	tgccaccatcatagtcaggcCtccgccactttagatagaca	7	14	2	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:179454380C>T	ENST00000591111.1	-	254	57373	c.57149G>A	c.(57148-57150)aGg>aAg	p.R19050K	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20691K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19050	Fibronectin type-III 38. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGTCAGGCCTCCGCCACTT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(62071-62073)aGg>aAg		titin							180	174	176					2																	179454380		1922	4139	6061	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454380C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57149G>A	2.37:g.179454380C>T	ENSP00000465570:p.Arg19050Lys					TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19050K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.R20691K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	62296	-			19050					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.62072G>A		.	.	.	.	.	.	.	.	.	.	C	13.43	2.235172	0.39498	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.1	6.1	0.99115	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35770	0.0943	N	0.03224	-0.385	0.40267	D	0.978245	B;B;B;B	0.25272	0.122;0.122;0.122;0.021	B;B;B;B	0.20577	0.03;0.03;0.03;0.022	T	0.34304	-0.9834	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	11626;11751;11818;19050	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18123;11626;11818;11751;11624	ENSP00000343764:R18123K;ENSP00000434586:R11626K;ENSP00000340554:R11818K;ENSP00000352154:R11751K	ENSP00000340554:R11818K	R	-	2	0	TTN	179162626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.555000	0.60767	2.902000	0.99343	0.650000	0.86243	AGG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	188	0	0	0	1	0	5	188					T	179454380	C	T	179454380	3	4	1	1	0	0	0	0	1	0	0	0	16732	681	24	3	46143	3	TTN	2	179454380	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08	66307841	179454380	63744993	5	5										
DOCK3	1795	broad.mit.edu	37	chr3	51393611	51393611	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cgagtcaagagcttctatcgCgtcaacaatgtgaggaagtt	11	8	3	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr3:51393611C>T	ENST00000266037.9	+	42	4364	c.4341C>T	c.(4339-4341)cgC>cgT	p.R1447R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTTCTATCGCGTCAACAATG	0.483																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4339-4341)cgC>cgT		dedicator of cytokinesis 3							132	125	127					3																	51393611		1954	4160	6114	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51393611C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4341C>T	3.37:g.51393611C>T							p.R1447R	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	42	4364	+			1447			DHR-2.		O15017	Silent	SNP	ENST00000266037.9	37	c.4341C>T	CCDS46835.1																																																																																				0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		4	50	0	0	0	1	0	4	50					T	51393611	C	T	51393611	2	4	1	1	0	0	0	0	0	0	0	1	4688	755	27	1		1	DOCK3	3	51393611	Silent	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		51393611	146628819	6	6										
UGT2B15	7367	broad.mit.edu	37	chr4	69416530	69416530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	gatccgcaaacaagggaatgCccaccatagggatcccatgg	11	12	0	0			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:69416530C>T	ENST00000317746.2	-	5	1220	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	393					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.G393D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	CAAGGGAATGCCCACCATAGG	0.458																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			1	Substitution - Missense(1)	p.G393D(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1177-1179)gGc>gAc		UDP glucuronosyltransferase 2 family, polypeptide B17							129	99	110					4																	69416530		2105	3977	6082	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69416530C>T	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1178G>A	4.37:g.69416530C>T	ENSP00000320401:p.Gly393Asp						p.G393D	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			5	1220	-			393						Missense_Mutation	SNP	ENST00000317746.2	37	c.1178G>A	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320568	0.41096	.	.	ENSG00000197888	ENST00000317746	T	0.63744	-0.06	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000001	T	0.81621	0.4861	H	0.96301	3.8	0.35776	D	0.821261	.	.	.	.	.	.	D	0.87420	0.2381	8	0.45353	T	0.12	.	10.8632	0.46839	0.0:1.0:0.0:0.0	.	.	.	.	D	393	ENSP00000320401:G393D	ENSP00000320401:G393D	G	-	2	0	UGT2B17	69099125	1.000000	0.71417	0.988000	0.46212	0.160000	0.22226	6.862000	0.75484	1.342000	0.45619	0.393000	0.25936	GGC		0.458	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		4	252	0	0	0	1	0	4	252					T	69416530	C	T	69416530	3	4	1	1	0	0	0	0	1	0	0	0	16955	739	26	3	422	3	UGT2B15	4	69416530	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		69416530	121737746	7	7										
ODZ3	55714	broad.mit.edu	37	chr4	183245322	183245322	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cagcgagacattgaaagcttTtgatcatgattcctcgcggc	10	10	1	4			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:183245322T>A	ENST00000511685.1	+	2	272	c.149T>A	c.(148-150)tTt>tAt	p.F50Y	TENM3_ENST00000406950.2_Missense_Mutation_p.F50Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	50	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTGAAAGCTTTTGATCATGAT	0.507																																						ENST00000511685.1																			0											c.(148-150)tTt>tAt		teneurin transmembrane protein 3							139	139	139					4																	183245322		1955	4159	6114	SO:0001583	missense	55714							g.chr4:183245322T>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.149T>A	4.37:g.183245322T>A	ENSP00000424226:p.Phe50Tyr					TENM3_ENST00000406950.2_Missense_Mutation_p.F50Y	p.F50Y							2	272	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.149T>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	9.796	1.179116	0.21787	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.28454	1.61;1.61;1.61	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.32010	0.0815	N	0.11845	0.185	0.41070	D	0.985449	B;D	0.53885	0.002;0.963	B;D	0.67231	0.01;0.95	T	0.05517	-1.0880	9	0.02654	T	1	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	50;50	D6RGC5;Q9P273	.;TEN3_HUMAN	Y	50	ENSP00000421320:F50Y;ENSP00000424226:F50Y;ENSP00000385276:F50Y	ENSP00000385276:F50Y	F	+	2	0	ODZ3	183482316	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.738000	0.68613	2.371000	0.80710	0.533000	0.62120	TTT		0.507	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	52	0	0	0	1	0	5	52					A	183245322	T	A	183245322	3	1	1	1	0	0	0	0	1	0	0	0	10836	1841	64	5	151	5	ODZ3	4	183245322	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	113828792	183245322	7908954	8	8										
TRIML1	339976	broad.mit.edu	37	chr4	189063419	189063419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	ttggcaggaagaaacaaagaCttgtaaacaggttgttgtgt	12	4	0	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:189063419C>A	ENST00000332517.3	+	3	658	c.518C>A	c.(517-519)aCt>aAt	p.T173N	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	173					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACAAAGACTTGTAAACAG	0.423																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(517-519)aCt>aAt		tripartite motif family-like 1							50	47	48					4																	189063419		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063419C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.518C>A	4.37:g.189063419C>A	ENSP00000327738:p.Thr173Asn					RP11-366H4.3_ENST00000501322.2_RNA	p.T173N	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	658	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	173					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.518C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175269	0.01646	.	.	ENSG00000184108	ENST00000332517	T	0.04603	3.59	4.31	1.04	0.20106	.	0.590344	0.15327	N	0.268223	T	0.04137	0.0115	L	0.41632	1.29	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.25106	T	0.35	-6.011	6.6576	0.22996	0.4524:0.3712:0.1764:0.0	.	173	Q8N9V2	TRIML_HUMAN	N	173	ENSP00000327738:T173N	ENSP00000327738:T173N	T	+	2	0	TRIML1	189300413	0.000000	0.05858	0.119000	0.21687	0.346000	0.29079	-1.028000	0.03589	0.169000	0.19679	0.650000	0.86243	ACT		0.423	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		8	12	1	0	1.12685e-05	1	1.22344e-05	8	12					A	189063419	C	A	189063419	3	1	1	1	0	0	0	0	1	0	0	0	16547	565	20	5	528	5	TRIML1	4	189063419	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08	5818097	189063419	2090857	9	9										
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826576	34826576	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cagagctggaggatgtagcaGatgttcatatgcttgtacat	12	6	1	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:34826576G>C	ENST00000192788.5	+	14	2614	c.2443G>C	c.(2443-2445)Gat>Cat	p.D815H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	815							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGATGTAGCAGATGTTCATAT	0.507																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2443-2445)Gat>Cat		UHRF1 binding protein 1							153	148	149					6																	34826576		1985	4172	6157	SO:0001583	missense	54887							g.chr6:34826576G>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2443G>C	6.37:g.34826576G>C	ENSP00000192788:p.Asp815His					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H	p.D815H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2614	+			815					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2443G>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494993	0.44352	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.32988	1.43;1.43	5.7	4.84	0.62591	.	0.259357	0.40385	N	0.001113	T	0.26085	0.0636	M	0.64997	1.995	0.25456	N	0.987967	D	0.56521	0.976	P	0.48488	0.579	T	0.07770	-1.0755	10	0.72032	D	0.01	-4.1351	14.6497	0.68786	0.0696:0.0:0.9304:0.0	.	815	Q6BDS2	URFB1_HUMAN	H	815	ENSP00000192788:D815H;ENSP00000400628:D815H	ENSP00000192788:D815H	D	+	1	0	UHRF1BP1	34934554	0.978000	0.34361	0.010000	0.14722	0.723000	0.41478	3.176000	0.50863	1.422000	0.47177	-0.229000	0.12294	GAT		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	161	0	0	0	1	0	7	161					C	34826576	G	C	34826576	3	2	1	1	0	0	0	0	1	0	0	0	16965	942	33	5	2497	5	UHRF1BP1	6	34826576	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		34826576	136288491	10	10										
TFAP2D	83741	broad.mit.edu	37	chr6	50696701	50696701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cctctccccacctgagtgccTcaatgcttcactcttgggag	8	16	4	1			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:50696701T>G	ENST00000008391.3	+	4	959	c.731T>G	c.(730-732)cTc>cGc	p.L244R	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCTGAGTGCCTCAATGCTTCA	0.468																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(730-732)cTc>cGc		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							98	97	98					6																	50696701		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696701T>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.731T>G	6.37:g.50696701T>G	ENSP00000008391:p.Leu244Arg					TFAP2D_ENST00000492804.1_3'UTR	p.L244R	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			4	959	+	Lung NSC(77;0.0334)		244						Missense_Mutation	SNP	ENST00000008391.3	37	c.731T>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723044	0.89298	.	.	ENSG00000008197	ENST00000008391	D	0.98567	-5.0	5.97	5.97	0.96955	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99174	1.0865	10	0.87932	D	0	-17.5463	16.4608	0.84044	0.0:0.0:0.0:1.0	.	244	Q7Z6R9	AP2D_HUMAN	R	244	ENSP00000008391:L244R	ENSP00000008391:L244R	L	+	2	0	TFAP2D	50804660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTC		0.468	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		20	61	0	0	0	1	0	20	61					G	50696701	T	G	50696701	3	3	1	1	0	0	0	0	1	0	0	0	15787	1551	54	5	745	5	TFAP2D	6	50696701	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	15870125	50696701	120418366	11	11										
GATAD1	57798	broad.mit.edu	37	chr7	92083921	92083921	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	tccaggaccagtattgcgagAagagtgcagcactgacgtgg	14	9	0	3			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:92083921A>G	ENST00000287957.3	+	4	818	c.541A>G	c.(541-543)Aag>Gag	p.K181E	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	181						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTGCGAGAAGAGTGCAGC	0.443																																						ENST00000287957.3																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(541-543)Aag>Gag		GATA zinc finger domain containing 1							171	161	164					7																	92083921		2203	4300	6503	SO:0001583	missense	57798						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:92083921A>G		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"GATA zinc finger domain containing"	29941	protein-coding gene	gene with protein product	"ocular development associated gene"	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.541A>G	7.37:g.92083921A>G	ENSP00000287957:p.Lys181Glu						p.K181E	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)		4	818	+	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		181					B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	c.541A>G	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	A	35	5.414774	0.96092	.	.	ENSG00000157259	ENST00000287957	D	0.87334	-2.24	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.94239	0.7483	10	0.87932	D	0	-24.0765	16.4114	0.83713	1.0:0.0:0.0:0.0	.	181	Q8WUU5	GATD1_HUMAN	E	181	ENSP00000287957:K181E	ENSP00000287957:K181E	K	+	1	0	GATAD1	91921857	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.137000	0.94496	2.276000	0.75962	0.529000	0.55759	AAG		0.443	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		28	55	0	0	0	1	0	28	55					G	92083921	A	G	92083921	3	3	1	1	0	0	0	0	1	0	0	0	6259	247	9	4	555	4	GATAD1	7	92083921	Missense_Mutation	SNP	A	TCGA-P7-A5NX-01A-11D-A35D-08		92083921	67054742	12	12										
NUP205	23165	broad.mit.edu	37	chr7	135289192	135289192	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	tcagataaagttggttggagAtttcacacatgaccaggtaa	10	6	2	3			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:135289192A>T	ENST00000285968.6	+	19	2833	c.2807A>T	c.(2806-2808)gAt>gTt	p.D936V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	936					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGGTTGGAGATTTCACACAT	0.353																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2806-2808)gAt>gTt		nucleoporin 205kDa							132	123	126					7																	135289192		2203	4299	6502	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135289192A>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2807A>T	7.37:g.135289192A>T	ENSP00000285968:p.Asp936Val						p.D936V	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			19	2833	+			936					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2807A>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	8.962	0.970868	0.18659	.	.	ENSG00000155561	ENST00000285968	T	0.25414	1.8	5.27	5.27	0.74061	.	0.093361	0.64402	D	0.000001	T	0.24122	0.0584	L	0.41236	1.265	0.80722	D	1	B	0.30146	0.27	B	0.31812	0.136	T	0.03423	-1.1038	10	0.29301	T	0.29	-21.1954	15.1862	0.73002	1.0:0.0:0.0:0.0	.	936	Q92621	NU205_HUMAN	V	936	ENSP00000285968:D936V	ENSP00000285968:D936V	D	+	2	0	NUP205	134939732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.937000	0.92936	1.979000	0.57680	0.383000	0.25322	GAT		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	67	0	0	0	1	0	4	67					T	135289192	A	T	135289192	3	4	1	1	0	0	0	0	1	0	0	0	10759	333	12	5	2881	5	NUP205	7	135289192	Missense_Mutation	SNP	A	TCGA-P7-A5NX-01A-11D-A35D-08	43205271	135289192	23849471	13	13										
SSPO	23145	broad.mit.edu	37	chr7	149510857	149510857	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	gcggcaccatccgggtgctcGgctggcaaggcctgacggct	16	14	0	1			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:149510857G>A	ENST00000378016.2	+	0	10142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGTGCTCGGCTGGCAAGG	0.672																																						ENST00000378016.2																			0													SCO-spondin							23	27	26					7																	149510857		2011	4155	6166			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149510857G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149510857G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	40	0	0	0	1	0	4	40					A	149510857	G	A	149510857	1	1	1	0	1	0	0	0	0	0	0	0	15188	1116	39	2		2	SSPO	7	149510857	RNA	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08	14221665	149510857	9627806	14	14										
VPS13B	157680	broad.mit.edu	37	chr8	100874100	100874100	+	Frame_Shift_Del	DEL	G	G	-													0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	ctacaaccggcaggaggagtGgcggcggcagctccccgaga					rs386834060		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr8:100874100delG	ENST00000358544.2	+	58	11327	c.11216delG	c.(11215-11217)tggfs	p.W3739fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.W3714fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3739					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGAGGAGTGGCGGCGGCAG	0.672																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	GRCh37	CM041282	VPS13B	M		c.(11215-11217)tgfs		vacuolar protein sorting 13 homolog B (yeast)							32	23	26					8																	100874100		2192	4297	6489	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100874100delG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11216delG	8.37:g.100874100delG	ENSP00000351346:p.Trp3739fs					VPS13B_ENST00000357162.2_Frame_Shift_Del_p.W3714fs|VPS13B_ENST00000395996.1_3'UTR	p.W3739fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		58	11327	+	Breast(36;3.73e-07)		3739					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.11216delG	CCDS6280.1																																																																																				0.672	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		2	4						2	4	---	---	---	---	-	100874100	G	-	100874100	7	5	1	1	0	1	0	1	0	0	0	0	17187	1357	47	0	11636	0	VPS13B	8	100874100	Frame_Shift_Del	DEL	G	TCGA-P7-A5NX-01A-11D-A35D-08		100874100	45489922	15	15										
AGTPBP1	23287	broad.mit.edu	37	chr9	88248216	88248216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	atgtttcctcgcctgccgtaGgaacaacaataggaccacgt	9	12	0	0			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr9:88248216G>A	ENST00000357081.3	-	14	1520	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P419L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	459					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCTGCCGTAGGAACAACAAT	0.358																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1375-1377)cCt>cTt		ATP/GTP binding protein 1							57	60	59					9																	88248216		2185	4255	6440	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88248216G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1376C>T	9.37:g.88248216G>A	ENSP00000349592:p.Pro459Leu					AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P419L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L	p.P459L			Q9UPW5	CBPC1_HUMAN			14	1520	-			459					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1376C>T		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928121	0.73327	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.59364	1.82;1.8;1.74;0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;0.998;1.0;0.973	T	0.72818	-0.4178	10	0.48119	T	0.1	-15.8208	20.6439	0.99570	0.0:0.0:1.0:0.0	.	471;459;297;419	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	459;419;471;297	ENSP00000349592:P459L;ENSP00000365251:P419L;ENSP00000365277:P471L;ENSP00000402804:P297L	ENSP00000349592:P459L	P	-	2	0	AGTPBP1	87438036	1.000000	0.71417	0.986000	0.45419	0.584000	0.36387	7.159000	0.77483	2.890000	0.99128	0.650000	0.86243	CCT		0.358	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		8	93	0	0	0	1	0	8	93					A	88248216	G	A	88248216	3	1	1	1	0	0	0	0	1	0	0	0	400	1000	35	3	2356	3	AGTPBP1	9	88248216	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		88248216	52965215	16	16										
ADAMTS20	80070	broad.mit.edu	37	chr12	43846144	43846144	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	gagtaccatcttcaaccataTccttcaataggtagaaataa	5	9	3	1			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr12:43846144T>A	ENST00000389420.3	-	14	2011	c.2012A>T	c.(2011-2013)gAt>gTt	p.D671V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	671	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCAACCATATCCTTCAATAG	0.338																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2011-2013)gAt>gTt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							90	86	87					12																	43846144		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846144T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2012A>T	12.37:g.43846144T>A	ENSP00000374071:p.Asp671Val					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V	p.D671V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	14	2011	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	671			Cys-rich.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2012A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114887	0.37339	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.69685	-0.42;0.25	4.96	3.8	0.43715	.	0.112860	0.38164	N	0.001796	T	0.70378	0.3217	M	0.73962	2.25	0.80722	D	1	P	0.38729	0.644	B	0.43478	0.421	T	0.73522	-0.3956	10	0.72032	D	0.01	.	12.5599	0.56275	0.0:0.0:0.1393:0.8607	.	671	P59510	ATS20_HUMAN	V	671	ENSP00000374071:D671V;ENSP00000448341:D671V	ENSP00000374068:D671V	D	-	2	0	ADAMTS20	42132411	1.000000	0.71417	0.154000	0.22540	0.005000	0.04900	5.869000	0.69613	0.978000	0.38470	-0.714000	0.03626	GAT		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		21	29	0	0	0	1	0	21	29					A	43846144	T	A	43846144	3	1	1	1	0	0	0	0	1	0	0	0	266	1435	50	5	3823	5	ADAMTS20	12	43846144	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08		43846144	90005751	17	17										
ANAPC7	51434	broad.mit.edu	37	chr12	110834213	110834213	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	catgaaagagagaatctgcaTgatacaccaaaagctggtac	9	8	1	4			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr12:110834213T>G	ENST00000455511.3	-	2	248	c.248A>C	c.(247-249)cAt>cCt	p.H83P	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGAATCTGCATGATACACCAA	0.393																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(247-249)cAt>cCt		anaphase promoting complex subunit 7							78	67	70					12																	110834213		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110834213T>G	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.248A>C	12.37:g.110834213T>G	ENSP00000394394:p.His83Pro					ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P|RP11-478C19.2_ENST00000550231.1_RNA	p.H83P	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			2	248	-			83					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.248A>C	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192781	0.78902	.	.	ENSG00000196510	ENST00000455511;ENST00000450008	T;T	0.73681	1.2;-0.77	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	L	0.43152	1.355	0.80722	D	1	D;P	0.69078	0.997;0.942	D;P	0.81914	0.995;0.487	T	0.80460	-0.1373	10	0.37606	T	0.19	0.121	16.2421	0.82418	0.0:0.0:0.0:1.0	.	83;83	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	P	83	ENSP00000394394:H83P;ENSP00000402314:H83P	ENSP00000402314:H83P	H	-	2	0	ANAPC7	109318596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.234000	0.73211	0.533000	0.62120	CAT		0.393	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		10	39	0	0	0	1	0	10	39					G	110834213	T	G	110834213	3	3	1	1	0	0	0	0	1	0	0	0	606	1464	51	5	1595	5	ANAPC7	12	110834213	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	66988069	110834213	23017682	18	18										
IPO5	3843	broad.mit.edu	37	chr13	98658492	98658492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cctactatgatttatttatgCcatcactgaagcacatcgtt	5	10	1	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr13:98658492C>T	ENST00000490680.1	+	14	1671	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S	IPO5_ENST00000261574.5_Missense_Mutation_p.P554S|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.P411S			O00410	IPO5_HUMAN	importin 5	536					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTTATTTATGCCATCACTGAA	0.408																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1660-1662)Cca>Tca		importin 5							122	117	118					13																	98658492		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658492C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1606C>T	13.37:g.98658492C>T	ENSP00000418393:p.Pro536Ser					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.P536S|IPO5_ENST00000539640.1_Missense_Mutation_p.P411S	p.P554S	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1840	+			536					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1660C>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.788017	0.90367	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.047441	0.85682	D	0.000000	D	0.85496	0.5710	M	0.90198	3.095	0.80722	D	1	D;D;D	0.58268	0.978;0.97;0.982	P;P;D	0.64595	0.901;0.768;0.927	D	0.88118	0.2830	10	0.59425	D	0.04	-0.788	14.7758	0.69732	0.1448:0.8552:0.0:0.0	.	411;536;554	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	S	554;536;536;411	ENSP00000261574:P554S;ENSP00000350219:P536S;ENSP00000418393:P536S;ENSP00000445126:P411S	ENSP00000261574:P554S	P	+	1	0	IPO5	97456493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.955000	0.70306	2.375000	0.81037	0.460000	0.39030	CCA		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	117	0	0	0	1	0	4	117					T	98658492	C	T	98658492	3	4	1	1	0	0	0	0	1	0	0	0	7796	739	26	3	1718	3	IPO5	13	98658492	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		98658492	16511386	19	19										
C14orf4	64207	broad.mit.edu	37	chr14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCGGCG													0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	ggctgcgctgttccaccgcaINSgcggcggcggcggcggcggc					rs61991619|rs371633333	byFrequency	TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr14:77493647_77493648insGCGGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGCCGC	c.(487-489)gct>gcCGCCGCt	p.163_163A>AAA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCGGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.483_488dupCGCCGC	14.37:g.77493648_77493653dupGCGGCG	ENSP00000238647:p.AlaAla163dup						p.163_163G>APR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGCCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		4	3						4	3	---	---	---	---	GCGGCG	77493648	-	GCGGCG	77493647	7	5	1	1	0	1	1	0	0	0	0	0	1773	175	7	0	1905	0	C14orf4	14	77493647	In_Frame_Ins	INS	-	TCGA-P7-A5NX-01A-11D-A35D-08		77493647	29855893	20	20										
PER1	5187	broad.mit.edu	37	chr17	8045151	8045151	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	caagagcccgaggcagttggCccttccggacccaggagtgc	14	14	0	1			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:8045151C>G	ENST00000317276.4	-	22	3809	c.3572G>C	c.(3571-3573)gGc>gCc	p.G1191A	PER1_ENST00000581082.1_Missense_Mutation_p.G1168A|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1191	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCAGTTGGCCCTTCCGGAC	0.577			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3571-3573)gGc>gCc	Other conserved DNA damage response genes	period circadian clock 1							73	84	81					17																	8045151		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045151C>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3572G>C	17.37:g.8045151C>G	ENSP00000314420:p.Gly1191Ala					PER1_ENST00000581082.1_Missense_Mutation_p.G1168A	p.G1191A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			22	3809	-			1191			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3572G>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985233	0.93044	.	.	ENSG00000179094	ENST00000317276	T	0.15487	2.42	5.67	5.67	0.87782	Period circadian-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.25641	-1.0126	10	0.56958	D	0.05	-23.2837	17.2644	0.87081	0.0:1.0:0.0:0.0	.	1182;1191	A2I2P6;O15534	.;PER1_HUMAN	A	1191	ENSP00000314420:G1191A	ENSP00000314420:G1191A	G	-	2	0	PER1	7985876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.697000	0.68295	2.697000	0.92050	0.655000	0.94253	GGC		0.577	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	111	0	0	0	1	0	5	111					G	8045151	C	G	8045151	3	3	1	1	0	0	0	0	1	0	0	0	11729	739	26	5	308	5	PER1	17	8045151	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		8045151	73150059	21	21										
SDF2	6388	broad.mit.edu	37	chr17	26976014	26976014	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	agagcctctagattcacagcTctgcatggtgggcttctgcc	11	12	4	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:26976014T>G	ENST00000247020.4	-	3	927	c.629A>C	c.(628-630)gAg>gCg	p.E210A	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	210					protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GATTCACAGCTCTGCATGGTG	0.527																																						ENST00000247020.4																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(628-630)gAg>gCg		stromal cell-derived factor 2							107	97	101					17																	26976014		2203	4300	6503	SO:0001583	missense	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26976014T>G	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.629A>C	17.37:g.26976014T>G	ENSP00000247020:p.Glu210Ala					SDF2_ENST00000592250.1_5'UTR	p.E210A	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN			3	927	-	Lung NSC(42;0.00431)		210					Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.629A>C	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605054	0.66445	.	.	ENSG00000132581	ENST00000247020	D	0.85955	-2.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.91920	3.255	0.58432	D	0.999998	D	0.69078	0.997	P	0.60682	0.878	D	0.94105	0.7365	10	0.56958	D	0.05	-22.6344	16.216	0.82217	0.0:0.0:0.0:1.0	.	210	Q99470	SDF2_HUMAN	A	210	ENSP00000247020:E210A	ENSP00000247020:E210A	E	-	2	0	SDF2	24000141	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.578000	0.74032	2.284000	0.76573	0.524000	0.50904	GAG		0.527	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		6	76	0	0	0	1	0	6	76					G	26976014	T	G	26976014	3	3	1	1	0	0	0	0	1	0	0	0	13960	1551	54	5	10	5	SDF2	17	26976014	Missense_Mutation	SNP	T	TCGA-P7-A5NX-01A-11D-A35D-08	18930863	26976014	54219196	22	22										
MYO5B	4645	broad.mit.edu	37	chr18	47488727	47488727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	cataaaaatcaatcagggtcCaagggatctgttccttcatg	8	9	4	0	rs375592664		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr18:47488727C>G	ENST00000285039.7	-	12	1753	c.1454G>C	c.(1453-1455)tGg>tCg	p.W485S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	485	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AATCAGGGTCCAAGGGATCTG	0.423																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1453-1455)tGg>tCg		myosin VB							161	149	153					18																	47488727		1889	4111	6000	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47488727C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1454G>C	18.37:g.47488727C>G	ENSP00000285039:p.Trp485Ser						p.W485S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	12	1753	-			485			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1454G>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529974	0.85706	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.89485	-2.52	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98149	1.0440	10	0.87932	D	0	.	18.8599	0.92267	0.0:1.0:0.0:0.0	.	484;485	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	S	485;484	ENSP00000285039:W485S	ENSP00000285039:W485S	W	-	2	0	MYO5B	45742725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.533000	0.85409	0.561000	0.74099	TGG		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			10	50	0	0	0	1	0	10	50					G	47488727	C	G	47488727	3	3	1	1	0	0	0	0	1	0	0	0	10079	595	21	5	4208	5	MYO5B	18	47488727	Missense_Mutation	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08		47488727	30588521	23	23										
MED26	9441	broad.mit.edu	37	chr19	16687787	16687787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	catacaagctctgctgccggGcaaaggagccctcatgccgt	11	14	2	0			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr19:16687787G>A	ENST00000263390.3	-	3	1116	c.854C>T	c.(853-855)gCc>gTc	p.A285V	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A293V|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	285	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGCTGCCGGGCAAAGGAGCC	0.672																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(853-855)gCc>gTc		mediator complex subunit 26							27	29	29					19																	16687787		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687787G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.854C>T	19.37:g.16687787G>A	ENSP00000263390:p.Ala285Val					CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A293V	p.A285V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1116	-			285			Pro-rich.		A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.854C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	6.140	0.394013	0.11638	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.73	3.62	0.41486	.	0.703755	0.13521	N	0.381703	T	0.22859	0.0552	N	0.05383	-0.06	0.22771	N	0.998754	B	0.06786	0.001	B	0.10450	0.005	T	0.09228	-1.0684	9	0.28530	T	0.3	-17.3249	10.4452	0.44490	0.1366:0.0:0.8634:0.0	.	285	O95402	MED26_HUMAN	V	285	.	ENSP00000263390:A285V	A	-	2	0	MED26	16548787	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.449000	0.52950	2.189000	0.69895	0.549000	0.68633	GCC		0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		3	35	0	0	0	1	0	3	35					A	16687787	G	A	16687787	3	1	1	1	0	0	0	0	1	0	0	0	9444	1203	42	3	952	3	MED26	19	16687787	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		16687787	42441196	24	24										
HRC	3270	broad.mit.edu	37	chr19	49656694	49656694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	accgctttcctcctcgctggAggcacctccagcctcctctc	7	20	1	0			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr19:49656694A>G	ENST00000252825.4	-	1	1987	c.1801T>C	c.(1801-1803)Tcc>Ccc	p.S601P	HRC_ENST00000595625.1_Missense_Mutation_p.S601P	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	601					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCGCTGGAGGCACCTCCA	0.642																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1801-1803)Tcc>Ccc		histidine rich calcium binding protein							63	55	57					19																	49656694		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656694A>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1801T>C	19.37:g.49656694A>G	ENSP00000252825:p.Ser601Pro					HRC_ENST00000595625.1_Missense_Mutation_p.S601P	p.S601P	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1987	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	601					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1801T>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313482	0.23908	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.52057	0.68	2.87	1.77	0.24775	.	.	.	.	.	T	0.51719	0.1691	L	0.60455	1.87	0.18873	N	0.999982	D	0.65815	0.995	P	0.56278	0.795	T	0.34775	-0.9815	9	0.30078	T	0.28	-2.3818	5.7431	0.18104	0.7202:0.2798:0.0:0.0	.	601	P23327	SRCH_HUMAN	P	601;291	ENSP00000252825:S601P	ENSP00000252825:S601P	S	-	1	0	HRC	54348506	0.738000	0.28186	0.434000	0.26772	0.187000	0.23431	1.062000	0.30555	0.462000	0.27095	0.460000	0.39030	TCC		0.642	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	18	0	0	0	1	0	9	18					G	49656694	A	G	49656694	3	3	1	1	0	0	0	0	1	0	0	0	7352	304	11	4	322	4	HRC	19	49656694	Missense_Mutation	SNP	A	TCGA-P7-A5NX-01A-11D-A35D-08	32968907	49656694	9472289	25	25										
MAGEE1	57692	broad.mit.edu	37	chrX	75651040	75651040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	tgtatggggtcctagagcccGtttggaaacctctaagatga	12	8	1	3			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:75651040G>A	ENST00000361470.2	+	1	2995	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	906	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTAGAGCCCGTTTGGAAACC	0.483																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2716-2718)cGt>cAt		melanoma antigen family E, 1							79	74	76					X																	75651040		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75651040G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2717G>A	X.37:g.75651040G>A	ENSP00000354912:p.Arg906His						p.R906H	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2995	+			906			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2717G>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	6.759	0.508865	0.12883	.	.	ENSG00000198934	ENST00000361470	T	0.04603	3.59	2.21	2.21	0.28008	.	.	.	.	.	T	0.02688	0.0081	N	0.00280	-1.71	0.26582	N	0.973364	D	0.89917	1.0	D	0.69307	0.963	T	0.47045	-0.9147	9	0.13470	T	0.59	.	7.167	0.25695	0.0:0.0:1.0:0.0	.	906	Q9HCI5	MAGE1_HUMAN	H	906	ENSP00000354912:R906H	ENSP00000354912:R906H	R	+	2	0	MAGEE1	75567444	0.937000	0.31787	0.918000	0.36340	0.951000	0.60555	0.550000	0.23345	1.380000	0.46344	0.529000	0.55759	CGT		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		4	81	0	0	0	1	0	4	81					A	75651040	G	A	75651040	3	1	1	1	0	0	0	0	1	0	0	0	9185	1145	40	1	2719	1	MAGEE1	23	75651040	Missense_Mutation	SNP	G	TCGA-P7-A5NX-01A-11D-A35D-08		75651040	79619520	26	26										
STAG2	10735	broad.mit.edu	37	chrX	123215265	123215265	+	Frame_Shift_Del	DEL	T	T	-													0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	atacaagaaaatggctataaTtttgatagatcatcctctac							TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:123215265delT	ENST00000371160.1	+	28	3101	c.2811delT	c.(2809-2811)aatfs	p.N937fs	STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.N937fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	937					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGGCTATAATTTTGATAGAT	0.308																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2809-2811)aafs		stromal antigen 2							86	82	83					X																	123215265		2202	4299	6501	SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123215265delT	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2811delT	X.37:g.123215265delT	ENSP00000360202:p.Asn937fs					STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.N937fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs	p.N937fs			Q8N3U4	STAG2_HUMAN			28	3101	+			937					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.2811delT	CCDS14607.1																																																																																				0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		31	62						31	62	---	---	---	---	-	123215265	T	-	123215265	7	5	1	1	0	1	0	1	0	0	0	0	15242	1490	52	0	2913	0	STAG2	23	123215265	Frame_Shift_Del	DEL	T	TCGA-P7-A5NX-01A-11D-A35D-08	47564225	123215265	32055295	27	27										
PHF6	84295	broad.mit.edu	37	chrX	133549219	133549219	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0357142857142857	1	1	0.494505494505495	1.60714285714286	0	1	1	0	tttaaatttagagtacatccCaaatttatccagtcatcaga	4	8	2	2			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:133549219C>G	ENST00000332070.3	+	8	1036				PHF6_ENST00000394292.1_Intron|PHF6_ENST00000370800.4_Silent_p.P302P|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370803.3_Intron	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GAGTACATCCCAAATTTATCC	0.284			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000370800.4				Rec	yes		X	Xq26.3	84295	"F, N, Splice, Mis"	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(904-906)ccC>ccG		PHD finger protein 6							78	77	77					X																	133549219		2203	4297	6500	SO:0001627	intron_variant	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133549219C>G	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.834+69C>G	X.37:g.133549219C>G						PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000370803.3_Intron|PHF6_ENST00000332070.3_Intron|PHF6_ENST00000394292.1_Intron	p.P302P	NM_032335.3	NP_115711.2	Q8IWS0	PHF6_HUMAN			8	1047	+	Acute lymphoblastic leukemia(192;0.000127)		0					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Silent	SNP	ENST00000332070.3	37	c.906C>G	CCDS14639.1																																																																																				0.284	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		6	157	0	0	0	1	0	6	157					G	133549219	C	G	133549219	1	3	1	0	1	0	0	0	0	0	0	0	11838	581	21	5		5	PHF6	23	133549219	Intron	SNP	C	TCGA-P7-A5NX-01A-11D-A35D-08	10333954	133549219	21721341	28	28										
GPR128	84873	broad.mit.edu	37	chr3	100328717	100328717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caccatggcttcctgccgtgCctggaaccttagggtgctgg	13	13	0	0			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr3:100328717C>T	ENST00000273352.3	+	1	285	c.17C>T	c.(16-18)gCc>gTc	p.A6V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	6					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCCTGCCGTGCCTGGAACCTT	0.483																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(16-18)gCc>gTc		G protein-coupled receptor 128							165	140	148					3																	100328717		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100328717C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.17C>T	3.37:g.100328717C>T	ENSP00000273352:p.Ala6Val						p.A6V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			1	285	+			6					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.17C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271829	0.23221	.	.	ENSG00000144820	ENST00000273352	T	0.39592	1.07	5.37	-2.11	0.07187	.	1.895920	0.02324	N	0.073287	T	0.25865	0.0630	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13791	-1.0496	10	0.41790	T	0.15	.	1.3581	0.02186	0.1423:0.3333:0.2825:0.2419	.	6	Q96K78	GP128_HUMAN	V	6	ENSP00000273352:A6V	ENSP00000273352:A6V	A	+	2	0	GPR128	101811407	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.409000	0.07160	-0.090000	0.12462	0.563000	0.77884	GCC		0.483	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	45	0	0	0	1	0	4	45					T	100328717	C	T	100328717	3	4	2	1	0	0	0	0	1	0	0	0	6641	739	26	3	19	3	GPR128	3	100328717	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		100328717	97693713	1	29										
KBTBD12	166348	broad.mit.edu	37	chr3	127646684	127646684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	actctatgctctgggcagtaTtcataatgacctttatgtta	7	8	3	1			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr3:127646684T>C	ENST00000405109.1	+	3	1615	c.1148T>C	c.(1147-1149)aTt>aCt	p.I383T	KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.I383T			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	383										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTGGGCAGTATTCATAATGAC	0.373																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1147-1149)aTt>aCt		kelch repeat and BTB (POZ) domain containing 12							131	139	136					3																	127646684		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127646684T>C		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1148T>C	3.37:g.127646684T>C	ENSP00000385957:p.Ile383Thr					KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.I383T|KBTBD12_ENST00000407609.3_5'UTR	p.I383T			Q3ZCT8	KBTBC_HUMAN			3	1615	+			383					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1148T>C	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476519	0.44044	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.79141	-1.24;-1.24	5.94	5.94	0.96194	Kelch-type beta propeller (1);	.	.	.	.	T	0.72676	0.3490	L	0.41710	1.295	0.09310	N	1	B	0.21905	0.062	B	0.27608	0.081	T	0.66404	-0.5932	9	0.87932	D	0	.	12.1936	0.54284	0.0:0.0679:0.0:0.9321	.	383	Q3ZCT8	KBTBC_HUMAN	T	383	ENSP00000385957:I383T;ENSP00000385879:I383T	ENSP00000385957:I383T	I	+	2	0	KBTBD12	129129374	0.376000	0.25098	0.006000	0.13384	0.960000	0.62799	4.227000	0.58612	2.265000	0.75225	0.482000	0.46254	ATT		0.373	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		5	99	0	0	0	1	0	5	99					C	127646684	T	C	127646684	3	2	2	1	0	0	0	0	1	0	0	0	7991	1493	52	4	1154	4	KBTBD12	3	127646684	Missense_Mutation	SNP	T	TCGA-P7-A5NY-01A-12D-A35D-08	27317967	127646684	70375746	2	30										
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621184	99621184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tgtccccacaggctgcacagGagaaggatggtatcgtaata	12	9	0	1			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr7:99621184G>A	ENST00000324306.6	+	2	289	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_5'UTR	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E19K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGCTGCACAGGAGAAGGATGG	0.557																																						ENST00000324306.6																			1	Substitution - Missense(1)	p.E19K(1)	lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(55-57)Gag>Aag		zinc finger with KRAB and SCAN domains 1							92	83	86					7																	99621184		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99621184G>A	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.55G>A	7.37:g.99621184G>A	ENSP00000323148:p.Glu19Lys					ZKSCAN1_ENST00000426572.1_5'UTR|ZKSCAN1_ENST00000535170.1_Intron	p.E19K	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	289	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		19					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.55G>A	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976960	0.74360	.	.	ENSG00000106261	ENST00000324306;ENST00000432317	T;T	0.08370	3.1;3.81	4.63	4.63	0.57726	.	0.121584	0.37178	N	0.002212	T	0.07728	0.0194	L	0.58810	1.83	0.80722	D	1	P	0.37781	0.608	B	0.26864	0.074	T	0.28364	-1.0046	10	0.14656	T	0.56	.	12.8515	0.57860	0.0:0.0:1.0:0.0	.	19	P17029	ZKSC1_HUMAN	K	19	ENSP00000323148:E19K;ENSP00000394445:E19K	ENSP00000323148:E19K	E	+	1	0	ZKSCAN1	99459120	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.045000	0.49838	2.398000	0.81561	0.484000	0.47621	GAG		0.557	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		4	49	0	0	0	1	0	4	49					A	99621184	G	A	99621184	3	1	2	1	0	0	0	0	1	0	0	0	17683	1175	41	3	57	3	ZKSCAN1	7	99621184	Missense_Mutation	SNP	G	TCGA-P7-A5NY-01A-12D-A35D-08		99621184	59517479	3	31										
VPS28	51160	broad.mit.edu	37	chr8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgggtgggaggtggctcatgCggtgcatggtctccatcagc	17	10	3	0			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr8:145649475C>T	ENST00000526054.1	-	8	534	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000377348.2_Missense_Mutation_p.R166H|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000292510.4_Missense_Mutation_p.R166H			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(496-498)cGc>cAc		vacuolar protein sorting 28 homolog (S. cerevisiae)							53	59	57					8																	145649475		2203	4299	6502	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649475C>T	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.497G>A	8.37:g.145649475C>T	ENSP00000434064:p.Arg166His					VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H	p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	586	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		166			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.497G>A	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	c	19.14	3.770276	0.69992	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806	.	.	.	5.32	3.5	0.40072	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.049523	0.64402	D	0.000001	T	0.78039	0.4221	M	0.93150	3.385	0.58432	D	0.999997	D;P	0.58268	0.982;0.89	P;P	0.54759	0.76;0.614	T	0.83080	-0.0138	9	0.87932	D	0	.	10.4447	0.44486	0.0:0.8359:0.0:0.1641	.	166;166	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	H	166;166;166;166;149	.	ENSP00000292510:R166H	R	-	2	0	VPS28	145620283	1.000000	0.71417	0.973000	0.42090	0.187000	0.23431	3.575000	0.53870	1.490000	0.48466	-0.137000	0.14449	CGC		0.692	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			3	45	0	0	0	1	0	3	45					T	145649475	C	T	145649475	3	4	2	1	0	0	0	0	1	0	0	0	17196	768	27	1	290	1	VPS28	8	145649475	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		145649475	714547	4	32										
IRAK4	51135	broad.mit.edu	37	chr12	44171441	44171441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tatttgtcacaggtgtcaacAtgaaaacttagtagaactac	7	7	2	2			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr12:44171441A>G	ENST00000448290.2	+	7	796	c.725A>G	c.(724-726)cAt>cGt	p.H242R	IRAK4_ENST00000431837.1_Missense_Mutation_p.H118R|IRAK4_ENST00000440781.2_Missense_Mutation_p.H118R|IRAK4_ENST00000551736.1_Missense_Mutation_p.H242R	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AGGTGTCAACATGAAAACTTA	0.303																																						ENST00000431837.1																			0											c.(352-354)cAt>cGt		interleukin-1 receptor-associated kinase 4							134	121	125					12																	44171441		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44171441A>G	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.725A>G	12.37:g.44171441A>G	ENSP00000390651:p.His242Arg					IRAK4_ENST00000551736.1_Missense_Mutation_p.H242R|IRAK4_ENST00000448290.2_Missense_Mutation_p.H242R|IRAK4_ENST00000440781.2_Missense_Mutation_p.H118R	p.H118R	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	6	661	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	242					Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.353A>G	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236558	0.79800	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	H	0.98276	4.19	0.80722	D	1	D	0.55385	0.971	D	0.68353	0.957	D	0.95396	0.8486	10	0.87932	D	0	-23.8683	16.1641	0.81743	1.0:0.0:0.0:0.0	.	242	Q9NWZ3	IRAK4_HUMAN	R	118;118;242;242	ENSP00000408734:H118R;ENSP00000390327:H118R;ENSP00000390651:H242R;ENSP00000446490:H242R	ENSP00000390327:H118R	H	+	2	0	IRAK4	42457708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.509000	0.90529	2.211000	0.71520	0.477000	0.44152	CAT		0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			16	27	0	0	0	1	0	16	27					G	44171441	A	G	44171441	3	3	2	1	0	0	0	0	1	0	0	0	7825	217	8	4	747	4	IRAK4	12	44171441	Missense_Mutation	SNP	A	TCGA-P7-A5NY-01A-12D-A35D-08		44171441	89680454	5	33										
LMO7	4008	broad.mit.edu	37	chr13	76375012	76375012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atatcacgttgagaggggggCgtgaaggtgtgttgtgtttt	17	3	1	2			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr13:76375012C>T	ENST00000341547.4	+	8	2071	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	LMO7_ENST00000526202.1_Missense_Mutation_p.R180C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Missense_Mutation_p.R271C|LMO7_ENST00000377534.3_Missense_Mutation_p.R271C|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	271					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGAGGGGGGCGTGAAGGTGT	0.448																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(811-813)Cgt>Tgt		LIM domain 7							152	160	158					13																	76375012		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375012C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.811C>T	13.37:g.76375012C>T	ENSP00000342112:p.Arg271Cys					LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Missense_Mutation_p.R271C|LMO7_ENST00000526202.1_Missense_Mutation_p.R180C|LMO7_ENST00000377534.3_Missense_Mutation_p.R271C	p.R271C			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2071	+		Breast(118;0.0992)	271					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	c.811C>T	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591116	0.66219	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.45276	1.44;1.45;1.46;0.9;0.9	5.61	3.63	0.41609	.	0.382802	0.26146	N	0.026079	T	0.45034	0.1322	L	0.29908	0.895	0.30167	N	0.801653	D;D;D	0.71674	0.992;0.998;0.996	P;P;P	0.57679	0.731;0.825;0.791	T	0.48375	-0.9041	10	0.72032	D	0.01	-0.4401	11.9871	0.53153	0.6141:0.3859:0.0:0.0	.	180;271;219	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	C	271;271;271;219;180	ENSP00000342112:R271C;ENSP00000349571:R271C;ENSP00000366757:R271C;ENSP00000366719:R219C;ENSP00000431129:R180C	ENSP00000342112:R271C	R	+	1	0	LMO7	75273013	0.999000	0.42202	0.155000	0.22561	0.397000	0.30659	3.306000	0.51881	1.304000	0.44892	0.591000	0.81541	CGT		0.448	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		4	144	0	0	0	1	0	4	144					T	76375012	C	T	76375012	3	4	2	1	0	0	0	0	1	0	0	0	8855	768	27	1	841	1	LMO7	13	76375012	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		76375012	38794866	6	34										
TUBB3	10381	broad.mit.edu	37	chr16	90002016	90002016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcgcatctccgagcagttcaCggccatgttccggcgcaagg	13	14	2	0			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr16:90002016C>T	ENST00000315491.7	+	4	1280	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	TUBB3_ENST00000554444.1_Missense_Mutation_p.T314M|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.T314M|TUBB3_ENST00000556922.1_Missense_Mutation_p.T733M	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	386					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GAGCAGTTCACGGCCATGTTC	0.622																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(940-942)aCg>aTg		tubulin, beta 3 class III							117	109	111					16																	90002016		2198	4297	6495	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90002016C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1157C>T	16.37:g.90002016C>T	ENSP00000320295:p.Thr386Met					TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.T733M|TUBB3_ENST00000315491.7_Missense_Mutation_p.T386M|TUBB3_ENST00000554444.1_Missense_Mutation_p.T314M	p.T314M			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	3236	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	386					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.941C>T	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894515	0.52121	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.66	4.66	0.58398	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000017	D	0.87430	0.6175	M	0.86420	2.815	0.53688	D	0.999972	B;P	0.47762	0.391;0.9	B;B	0.40636	0.335;0.248	D	0.89677	0.3888	9	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	386;386	Q13509;B2RBD5	TBB3_HUMAN;.	M	733;386;314;314;386	ENSP00000451560:T733M;ENSP00000302777:T314M;ENSP00000451617:T314M;ENSP00000320295:T386M	.	T	+	2	0	RP11-566K11.2;TUBB3	88529517	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.600000	0.82769	2.313000	0.78055	0.561000	0.74099	ACG		0.622	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		4	148	0	0	0	1	0	4	148					T	90002016	C	T	90002016	3	4	2	1	0	0	0	0	1	0	0	0	16754	536	19	1	1171	1	TUBB3	16	90002016	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08		90002016	352737	7	35										
DNAH9	1770	broad.mit.edu	37	chr17	11642318	11642318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaacccaggctatgctggccGcacagagctgccagagaatc	12	13	0	2			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr17:11642318G>A	ENST00000262442.4	+	29	6004	c.5936G>A	c.(5935-5937)cGc>cAc	p.R1979H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H|AC005701.1_ENST00000584990.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1979	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGCTGGCCGCACAGAGCTG	0.478																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(5935-5937)cGc>cAc		dynein, axonemal, heavy chain 9							74	70	71					17																	11642318		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11642318G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5936G>A	17.37:g.11642318G>A	ENSP00000262442:p.Arg1979His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H	p.R1979H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	29	6004	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1979			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5936G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137893	0.94517	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15017	2.46;2.46	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73557	-0.3945	10	0.87932	D	0	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	1979	Q9NYC9	DYH9_HUMAN	H	1979;1979;561	ENSP00000262442:R1979H;ENSP00000414874:R1979H	ENSP00000262442:R1979H	R	+	2	0	DNAH9	11583043	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.670000	0.98625	2.807000	0.96579	0.591000	0.81541	CGC		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	46	0	0	0	1	0	3	46					A	11642318	G	A	11642318	3	1	2	1	0	0	0	0	1	0	0	0	4608	1087	38	1	6050	1	DNAH9	17	11642318	Missense_Mutation	SNP	G	TCGA-P7-A5NY-01A-12D-A35D-08		11642318	69552892	8	36										
HCN2	610	broad.mit.edu	37	chr19	605212	605212	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caactgctgggtgtccatcaAtggcatggtggtgagcgccg	15	10	1	1			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr19:605212A>G	ENST00000251287.2	+	3	1261	c.1208A>G	c.(1207-1209)aAt>aGt	p.N403S		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	403					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCCATCAATGGCATGGTG	0.647																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(1207-1209)aAt>aGt		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							75	60	65					19																	605212		2202	4298	6500	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:605212A>G	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1208A>G	19.37:g.605212A>G	ENSP00000251287:p.Asn403Ser						p.N403S	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1261	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	403					O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1208A>G	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	17.86	3.492148	0.64074	.	.	ENSG00000099822	ENST00000251287	D	0.98822	-5.16	3.65	3.65	0.41850	Ion transport (1);	.	.	.	.	D	0.97611	0.9217	M	0.71581	2.175	0.58432	D	0.999996	B	0.24963	0.115	B	0.34346	0.18	D	0.97146	0.9828	9	0.35671	T	0.21	.	11.4209	0.49980	1.0:0.0:0.0:0.0	.	403	Q9UL51	HCN2_HUMAN	S	403	ENSP00000251287:N403S	ENSP00000251287:N403S	N	+	2	0	HCN2	556212	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	9.116000	0.94341	1.409000	0.46915	0.324000	0.21423	AAT		0.647	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		8	35	0	0	0	1	0	8	35					G	605212	A	G	605212	3	3	2	1	0	0	0	0	1	0	0	0	6997	101	4	4	1218	4	HCN2	19	605212	Missense_Mutation	SNP	A	TCGA-P7-A5NY-01A-12D-A35D-08		605212	58523771	9	37										
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttacattcatatggttttaCaccagaatgaatactctgat	5	8	2	3			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172	176	174					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron	p.V240I			O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	209	0	0	0	1	0	6	209					T	40581529	C	T	40581529	3	4	2	1	0	0	0	0	1	0	0	0	18149	478	17	3	1236	3	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-P7-A5NY-01A-12D-A35D-08	39976317	40581529	18547454	10	38										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-P7-A5NY-01A-12D-A35D-08	TCGA-P7-A5NY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68fd9953-4dca-40f6-a422-28b82a371e12	87bae02a-0994-4ce5-a27b-72494a4a1b5f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	97	0	0	0	1	0	5	97					A	150156360	G	A	150156360	2	1	2	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-P7-A5NY-01A-12D-A35D-08		150156360	5114200	11	39										
CSMD2	114784	broad.mit.edu	37	chr1	34090179	34090179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	cagttgaggctgttgaggtaCggctctgggaagccagggga	18	7	1	2	rs548355797		TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:34090179C>T	ENST00000373380.1	-	14	2404	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1855P|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1815	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTGAGGTACGGCTCTGGGA	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		19481	0		0	False		,,,				2504	0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5563-5565)ccG>ccA		CUB and Sushi multiple domains 2							125	102	110					1																	34090179		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34090179C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2184G>A	1.37:g.34090179C>T						CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P728P|CSMD2_ENST00000373377.1_5'UTR	p.P1855P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			35	5741	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1815			CUB 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5565G>A																																																																																					0.662	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	45	0	0	0	1	0	3	45					T	34090179	C	T	34090179	2	4	3	1	0	0	0	0	0	0	0	1	3945	523	19	1		1	CSMD2	1	34090179	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		34090179	215160442	1	40										
ARNT	405	broad.mit.edu	37	chr1	150812108	150812108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	catcttgttccgtcgccgccGttcaatttcactgtgatttt	7	12	3	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:150812108G>A	ENST00000358595.5	-	6	495	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W|ARNT_ENST00000354396.2_Missense_Mutation_p.R99W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	99	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGTCGCCGCCGTTCAATTTCA	0.493			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(295-297)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator							117	107	110					1																	150812108		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150812108G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.295C>T	1.37:g.150812108G>A	ENSP00000351407:p.Arg99Trp					ARNT_ENST00000354396.2_Missense_Mutation_p.R99W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W	p.R99W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	495	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		99			Poly-Arg.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.295C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820176	0.90873	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	6.17	5.24	0.73138	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.998;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.976;0.923;0.944;0.982;0.982;0.954;1.0	D	0.98444	1.0588	10	0.87932	D	0	.	16.4222	0.83766	0.0:0.0:0.8585:0.1415	.	83;99;84;99;90;84;99	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	W	99;99;99;90;83;84	ENSP00000351407:R99W;ENSP00000346372:R99W;ENSP00000423851:R90W;ENSP00000427571:R84W	ENSP00000346372:R99W	R	-	1	2	ARNT	149078732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.078000	0.50096	1.555000	0.49500	0.655000	0.94253	CGG		0.493	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			3	10	0	0	0	1	0	3	10					A	150812108	G	A	150812108	3	1	3	1	0	0	0	0	1	0	0	0	965	1144	40	1	2142	1	ARNT	1	150812108	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08	116721929	150812108	98438513	2	41										
HLX	3142	broad.mit.edu	37	chr1	221053618	221053618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	gcagcagcaacagcctccgcCtccgccccgggctggcgccc	12	21	0	0			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr1:221053618C>T	ENST00000366903.6	+	1	1920	c.419C>T	c.(418-420)cCt>cTt	p.P140L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	140	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		cagcCTCCGCCTCCGCCCCGG	0.711																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(418-420)cCt>cTt		H2.0-like homeobox							14	21	18					1																	221053618		2190	4273	6463	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053618C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.419C>T	1.37:g.221053618C>T	ENSP00000355870:p.Pro140Leu						p.P140L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	1920	+			140			Pro-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.419C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045138	0.36085	.	.	ENSG00000136630	ENST00000366903	T	0.29655	1.56	4.77	3.86	0.44501	.	0.379571	0.22425	N	0.060234	T	0.14485	0.0350	N	0.08118	0	0.26623	N	0.972618	B	0.27823	0.19	B	0.24006	0.05	T	0.11542	-1.0583	10	0.51188	T	0.08	-2.9407	7.1913	0.25826	0.0:0.8039:0.0:0.1961	.	140	Q14774	HLX_HUMAN	L	140	ENSP00000355870:P140L	ENSP00000355870:P140L	P	+	2	0	HLX	219120241	0.364000	0.24997	0.019000	0.16419	0.053000	0.15095	4.624000	0.61254	1.239000	0.43787	0.655000	0.94253	CCT		0.711	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		4	18	0	0	0	1	0	4	18					T	221053618	C	T	221053618	3	4	3	1	0	0	0	0	1	0	0	0	7216	681	24	3	421	3	HLX	1	221053618	Missense_Mutation	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08	70241510	221053618	28197003	3	42										
EDAR	10913	broad.mit.edu	37	chr2	109545753	109545753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	agtctttgtgacgcctgcatAtctggtagcctcctttggaa	10	10	2	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:109545753A>G	ENST00000258443.2	-	4	687	c.257T>C	c.(256-258)aTa>aCa	p.I86T	EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000409271.1_Missense_Mutation_p.I86T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	86					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACGCCTGCATATCTGGTAGCC	0.607																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(256-258)aTa>aCa		ectodysplasin A receptor							88	79	82					2																	109545753		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109545753A>G	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.257T>C	2.37:g.109545753A>G	ENSP00000258443:p.Ile86Thr					EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000258443.2_Missense_Mutation_p.I86T	p.I86T			Q9UNE0	EDAR_HUMAN			5	700	-			86					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.257T>C	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724905	0.68959	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90324	-2.63;-2.65;-2.63	5.25	5.25	0.73442	.	0.150821	0.56097	D	0.000027	D	0.92397	0.7587	L	0.41415	1.275	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.977	D	0.91001	0.4842	10	0.27785	T	0.31	-25.4706	15.1586	0.72764	1.0:0.0:0.0:0.0	.	86;86	E9PC98;Q9UNE0	.;EDAR_HUMAN	T	86	ENSP00000386371:I86T;ENSP00000258443:I86T;ENSP00000365839:I86T	ENSP00000258443:I86T	I	-	2	0	EDAR	108912185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	1.980000	0.57719	0.379000	0.24179	ATA		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			3	31	0	0	0	1	0	3	31					G	109545753	A	G	109545753	3	3	3	1	0	0	0	0	1	0	0	0	4905	449	16	4	1125	4	EDAR	2	109545753	Missense_Mutation	SNP	A	TCGA-P8-A5KC-01A-11D-A35D-08		109545753	133653620	4	43										
FN1	2335	broad.mit.edu	37	chr2	216273109	216273109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	atgtattttcggccaggaagCaggtcagggatgttcacaga	13	7	2	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:216273109C>T	ENST00000359671.1	-	16	2605	c.2340G>A	c.(2338-2340)ctG>ctA	p.L780L	FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000354785.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L			P02751	FINC_HUMAN	fibronectin 1	780	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGCCAGGAAGCAGGTCAGGGA	0.423																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2338-2340)ctG>ctA		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91	86	88					2																	216273109		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216273109C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2340G>A	2.37:g.216273109C>T						FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L	p.L780L			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	16	2709	-		Renal(323;0.127)	780			Fibronectin type-III 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.2340G>A																																																																																					0.423	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		13	36	0	0	0	1	0	13	36					T	216273109	C	T	216273109	2	4	3	1	0	0	0	0	0	0	0	1	5962	697	25	3		3	FN1	2	216273109	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08	106727356	216273109	26926264	5	44										
INPP5D	3635	broad.mit.edu	37	chr2	234102471	234102471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	cctgcaggcgagggctgcatTgcccttcggttagaggccac	14	13	0	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr2:234102471T>C	ENST00000359570.5	+	25	2424	c.2424T>C	c.(2422-2424)atT>atC	p.I808I	INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	820					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGGGCTGCATTGCCCTTCGGT	0.582																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(2422-2424)atT>atC		inositol polyphosphate-5-phosphatase, 145kDa							94	94	94					2																	234102471		2029	4186	6215	SO:0001819	synonymous_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234102471T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2424T>C	2.37:g.234102471T>C						INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I	p.I808I			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	25	2424	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	820					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Silent	SNP	ENST00000359570.5	37	c.2424T>C																																																																																					0.582	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		24	53	0	0	0	1	0	24	53					C	234102471	T	C	234102471	2	2	3	1	0	0	0	0	0	0	0	1	7756	1800	63	4		4	INPP5D	2	234102471	Silent	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08	17829362	234102471	9096902	6	45										
PTPN3	5774	broad.mit.edu	37	chr9	112185069	112185069	+	Silent	SNP	C	C	T													0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	tgctccactgataaggatctCcgcatggctgggttccacac							TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr9:112185069C>T	ENST00000374541.2	-	13	1169	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R	PTPN3_ENST00000412145.1_Silent_p.R224R|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATAAGGATCTCCGCATGGCTG	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(670-672)cgG>cgA		protein tyrosine phosphatase, non-receptor type 3							209	194	199					9																	112185069		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185069C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1065G>A	9.37:g.112185069C>T						PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.R355R	p.R224R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3225	-			355			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.672G>A	CCDS6776.1																																																																																				0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	107	0	0	0	1	0	4	107					T	112185069	C	T	112185069	2	4	3	1	0	0	0	0	0	0	0	1	12789	842	30	3		3	PTPN3	9	112185069	Silent	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		112185069	29028362	7	46	1	2								
PTPN3	5774	broad.mit.edu	37	chr9	112185070	112185070	+	Missense_Mutation	SNP	C	C	A													0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	gctccactgataaggatctcCgcatggctgggttccacacc							TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr9:112185070C>A	ENST00000374541.2	-	13	1168	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	PTPN3_ENST00000412145.1_Missense_Mutation_p.R224L|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	355					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(670-672)cGg>cTg		protein tyrosine phosphatase, non-receptor type 3							208	193	198					9																	112185070		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112185070C>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1064G>T	9.37:g.112185070C>A	ENSP00000363667:p.Arg355Leu					PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.R355L	p.R224L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			8	3224	-			355			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.671G>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453896	0.63290	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000374541	T;T	0.61392	0.11;0.11	5.55	3.6	0.41247	.	0.156133	0.52532	D	0.000063	T	0.63438	0.2511	L	0.52573	1.65	0.80722	D	1	D	0.58268	0.982	P	0.56916	0.809	T	0.65780	-0.6085	10	0.62326	D	0.03	.	11.218	0.48838	0.0:0.8457:0.0:0.1543	.	355	P26045	PTN3_HUMAN	L	355;224;355	ENSP00000416654:R224L;ENSP00000363667:R355L	ENSP00000363667:R355L	R	-	2	0	PTPN3	111224891	0.921000	0.31238	1.000000	0.80357	0.996000	0.88848	1.011000	0.29911	1.249000	0.43950	0.650000	0.86243	CGG		0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	104	1	0	0.00909568	1	0.00940932	4	104					A	112185070	C	A	112185070	3	1	3	1	0	0	0	0	1	0	0	0	12789	652	23	5	1733	5	PTPN3	9	112185070	Missense_Mutation	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08	1	112185070	29028361	8	47	1	2								
OR8J3	81168	broad.mit.edu	37	chr11	55905035	55905035	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	gtacatggggttttgaagtcGagagtcaacactggtgaggg	16	5	1	3			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:55905035G>C	ENST00000301529.1	-	1	159	c.160C>G	c.(160-162)Cga>Gga	p.R54G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTTTGAAGTCGAGAGTCAACA	0.473																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(160-162)Cga>Gga		olfactory receptor, family 8, subfamily J, member 3							147	142	144					11																	55905035		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905035G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.160C>G	11.37:g.55905035G>C	ENSP00000301529:p.Arg54Gly						p.R54G	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	159	-	Esophageal squamous(21;0.00693)		54					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.160C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	6.013	0.370736	0.11409	.	.	ENSG00000167822	ENST00000301529	T	0.01133	5.29	3.26	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.400945	0.21579	N	0.072267	T	0.01454	0.0047	M	0.71581	2.175	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.42481	-0.9449	10	0.66056	D	0.02	.	3.1093	0.06352	0.0914:0.1358:0.3078:0.4649	.	54	Q8NGG0	OR8J3_HUMAN	G	54	ENSP00000301529:R54G	ENSP00000301529:R54G	R	-	1	2	OR8J3	55661611	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.264000	0.08658	-0.333000	0.08476	0.289000	0.19496	CGA		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	71	0	0	0	1	0	5	71					C	55905035	G	C	55905035	3	2	3	1	0	0	0	0	1	0	0	0	11242	1066	37	5	789	5	OR8J3	11	55905035	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08		55905035	79101481	9	48										
ADAMTS8	11095	broad.mit.edu	37	chr11	130278724	130278724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	ggcagaacaacttgcagcggTcccggggggacaccccagca	14	14	0	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:130278724T>C	ENST00000257359.6	-	7	2568	c.1862A>G	c.(1861-1863)gAc>gGc	p.D621G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	621	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTGCAGCGGTCCCGGGGGGA	0.577																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1861-1863)gAc>gGc		ADAM metallopeptidase with thrombospondin type 1 motif, 8							93	94	94					11																	130278724		1887	4119	6006	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130278724T>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1862A>G	11.37:g.130278724T>C	ENSP00000257359:p.Asp621Gly						p.D621G	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	7	2568	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	621			Cys-rich.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1862A>G	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952600	0.92660	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.68025	-0.3	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	D	0.86342	0.1705	10	0.72032	D	0.01	.	15.8307	0.78749	0.0:0.0:0.0:1.0	.	621;102	Q9UP79;B3KVX9	ATS8_HUMAN;.	G	19;621;650	ENSP00000257359:D621G	ENSP00000257359:D621G	D	-	2	0	ADAMTS8	129783934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.622000	0.83099	2.202000	0.70862	0.533000	0.62120	GAC		0.577	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		23	87	0	0	0	1	0	23	87					C	130278724	T	C	130278724	3	2	3	1	0	0	0	0	1	0	0	0	272	1667	58	4	819	4	ADAMTS8	11	130278724	Missense_Mutation	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08	74373689	130278724	4727792	10	49										
JAM3	83700	broad.mit.edu	37	chr11	134014247	134014247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	ggtcgttgctcgaaatgaccGcaaggaaattgatgagattg	13	6	0	3			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr11:134014247G>A	ENST00000299106.4	+	4	527	c.368G>A	c.(367-369)cGc>cAc	p.R123H	JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	123	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CGAAATGACCGCAAGGAAATT	0.488																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(367-369)cGc>cAc		junctional adhesion molecule 3							184	150	162					11																	134014247		2201	4297	6498	SO:0001583	missense	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134014247G>A	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.368G>A	11.37:g.134014247G>A	ENSP00000299106:p.Arg123His					JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H	p.R123H			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	4	527	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	123			Ig-like V-type.		B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	c.368G>A	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246259	0.39697	.	.	ENSG00000166086	ENST00000299106	T	0.12672	2.66	5.03	0.443	0.16587	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.575467	0.18973	N	0.126091	T	0.05686	0.0149	N	0.12471	0.22	0.27938	N	0.937632	B	0.12630	0.006	B	0.12156	0.007	T	0.24977	-1.0145	10	0.42905	T	0.14	.	1.7526	0.02975	0.2621:0.1914:0.4165:0.1301	.	123	Q9BX67	JAM3_HUMAN	H	168	ENSP00000299106:R168H	ENSP00000299106:R168H	R	+	2	0	JAM3	133519457	0.023000	0.18921	0.996000	0.52242	0.921000	0.55340	0.664000	0.25068	0.141000	0.18875	0.561000	0.74099	CGC		0.488	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		3	53	0	0	0	1	0	3	53					A	134014247	G	A	134014247	3	1	3	1	0	0	0	0	1	0	0	0	7944	1087	38	1	517	1	JAM3	11	134014247	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08	3735523	134014247	992269	11	50										
STAB2	55576	broad.mit.edu	37	chr12	104140440	104140440	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	gtaaggagaacaacacgtgtGagtgtaacctggattatgaa	12	5	0	3			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:104140440G>C	ENST00000388887.2	+	58	6406	c.6202G>C	c.(6202-6204)Gag>Cag	p.E2068Q	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAACACGTGTGAGTGTAACCT	0.502																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6202-6204)Gag>Cag		stabilin 2							343	273	297					12																	104140440		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104140440G>C	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6202G>C	12.37:g.104140440G>C	ENSP00000373539:p.Glu2068Gln					RP11-341G23.4_ENST00000551299.1_RNA	p.E2068Q	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			58	6406	+			2068			EGF-like 15.			Missense_Mutation	SNP	ENST00000388887.2	37	c.6202G>C	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612768	0.46631	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	T	0.35421	1.31	5.43	5.43	0.79202	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.496401	0.20453	N	0.092056	T	0.29158	0.0725	L	0.35644	1.08	0.26123	N	0.980524	B	0.22746	0.074	B	0.19666	0.026	T	0.10683	-1.0619	10	0.21014	T	0.42	.	13.8289	0.63368	0.0:0.2781:0.7219:0.0	.	2068	Q8WWQ8	STAB2_HUMAN	Q	2068;755	ENSP00000373539:E2068Q	ENSP00000258495:E755Q	E	+	1	0	STAB2	102664570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.556000	0.60775	2.545000	0.85829	0.462000	0.41574	GAG		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			33	150	0	0	0	1	0	33	150					C	104140440	G	C	104140440	3	2	3	1	0	0	0	0	1	0	0	0	15237	1291	45	5	6432	5	STAB2	12	104140440	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08		104140440	29711455	12	51										
SVOP	55530	broad.mit.edu	37	chr12	109332604	109332604	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	tattggtccaggcactgaccTgtctggagatgatgagtttc	12	8	1	4			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr12:109332604T>C	ENST00000299134.5	-	7	699	c.700A>G	c.(700-702)Agg>Ggg	p.R234G		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						GGCACTGACCTGTCTGGAGAT	0.542																																						ENST00000299134.5																			0				breast(2)|lung(4)	6						c.e7+1		SV2 related protein homolog (rat)							340	346	344					12																	109332604		2139	4243	6382	SO:0001630	splice_region_variant	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109332604T>C	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.701+1A>G	12.37:g.109332604T>C							p.R234_splice	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN			7	699	-			0					Q9NPW5	Splice_Site	SNP	ENST00000299134.5	37	c.701_splice		.	.	.	.	.	.	.	.	.	.	T	16.29	3.082787	0.55861	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.60792	0.2296	L	0.47716	1.5	.	.	.	.	.	.	.	.	.	T	0.67333	-0.5697	4	.	.	.	-20.671	13.6427	0.62260	0.0:0.0:0.0:1.0	.	.	.	.	G	234	.	.	R	-	1	2	SVOP	107856733	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.181000	0.77682	2.103000	0.63969	0.533000	0.62120	AGG		0.542	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711	Missense_Mutation	5	194	0	0	0	1	0	5	194					C	109332604	T	C	109332604	5	2	3	1	0	0	0	0	0	0	1	0	15420	1594	55	4	782	4	SVOP	12	109332604	Splice_Site	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08	5192164	109332604	24519291	13	52										
NAA30	122830	broad.mit.edu	37	chr14	57858352	57858352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	atccgagctacaaatgcccgAtatcatgagactgatcacca	7	12	2	2			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr14:57858352A>G	ENST00000556492.1	+	2	831	c.677A>G	c.(676-678)gAt>gGt	p.D226G	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	226	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CAAATGCCCGATATCATGAGA	0.488																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(676-678)gAt>gGt		N(alpha)-acetyltransferase 30, NatC catalytic subunit							164	185	178					14																	57858352		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57858352A>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.677A>G	14.37:g.57858352A>G	ENSP00000452521:p.Asp226Gly					NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	p.D226G	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	831	+			226			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.677A>G	CCDS32088.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077055	0.36662	.	.	ENSG00000139977	ENST00000556492;ENST00000395257	T	0.68181	-0.31	4.47	4.47	0.54385	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.146714	0.50627	D	0.000104	T	0.63046	0.2478	L	0.59436	1.845	0.80722	D	1	B	0.22909	0.077	B	0.24269	0.052	T	0.62388	-0.6865	10	0.40728	T	0.16	-10.9665	13.9309	0.63994	1.0:0.0:0.0:0.0	.	226	Q147X3	NAA30_HUMAN	G	226;189	ENSP00000452521:D226G	ENSP00000298406:D226G	D	+	2	0	NAA30	56928105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.719000	0.74718	1.872000	0.54250	0.533000	0.62120	GAT		0.488	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		5	169	0	0	0	1	0	5	169					G	57858352	A	G	57858352	3	3	3	1	0	0	0	0	1	0	0	0	10122	333	12	4	679	4	NAA30	14	57858352	Missense_Mutation	SNP	A	TCGA-P8-A5KC-01A-11D-A35D-08		57858352	49491188	14	53										
MYO5A	4644	broad.mit.edu	37	chr15	52646099	52646099	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	tgcggagcacctgctcctccTtgcggtccagctcatcctgc	10	17	1	0			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr15:52646099T>G	ENST00000399231.3	-	26	3779	c.3536A>C	c.(3535-3537)aAg>aCg	p.K1179T	MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1179					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCTCCTCCTTGCGGTCCAG	0.562																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3535-3537)aAg>aCg		myosin VA (heavy chain 12, myoxin)							110	117	114					15																	52646099		2102	4221	6323	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646099T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3536A>C	15.37:g.52646099T>G	ENSP00000382177:p.Lys1179Thr					MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T	p.K1179T	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3779	-			1179					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3536A>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200721	0.58126	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.07	1.29	0.21616	.	0.142257	0.64402	D	0.000006	T	0.14960	0.0361	L	0.27053	0.805	0.48341	D	0.999636	P;P	0.46142	0.57;0.873	B;P	0.46076	0.104;0.503	T	0.08889	-1.0700	10	0.13470	T	0.59	.	9.66	0.39950	0.0:0.2493:0.0:0.7507	.	1179;1179	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	1179;713;1179;1179;1179;809;1179	ENSP00000382177:K1179T;ENSP00000382179:K1179T;ENSP00000348693:K1179T;ENSP00000350945:K1179T;ENSP00000451109:K1179T	ENSP00000348693:K1179T	K	-	2	0	MYO5A	50433391	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.062000	0.49971	-0.027000	0.13873	0.533000	0.62120	AAG		0.562	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		9	75	0	0	0	1	0	9	75					G	52646099	T	G	52646099	3	3	3	1	0	0	0	0	1	0	0	0	10078	1609	56	5	2095	5	MYO5A	15	52646099	Missense_Mutation	SNP	T	TCGA-P8-A5KC-01A-11D-A35D-08		52646099	49885293	15	54										
TNRC6A	27327	broad.mit.edu	37	chr16	24817584	24817584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	gaagcgtgccttctgggaacCggccgcagcaagaccagcag	14	13	1	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr16:24817584C>T	ENST00000395799.3	+	16	4438	c.4309C>T	c.(4309-4311)Cgg>Tgg	p.R1437W	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1437					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTGGGAACCGGCCGCAGCA	0.498																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4309-4311)Cgg>Tgg		trinucleotide repeat containing 6A							66	60	62					16																	24817584		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24817584C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4309C>T	16.37:g.24817584C>T	ENSP00000379144:p.Arg1437Trp					TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA	p.R1437W	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	16	4438	+			1437					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4309C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.613335|5.613335	0.96637|0.96637	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799	.|T;T	.|0.15487	.|2.46;2.42	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45074|0.45074	0.1324|0.1324	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.952	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.87932	.|D	.|0	-15.6005|-15.6005	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|104;576;1388;1437	.|B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.|.;.;.;TNR6A_HUMAN	L|W	327|1388;1437	.|ENSP00000326900:R1388W;ENSP00000379144:R1437W	.|ENSP00000326900:R1388W	P|R	+|+	2|1	0|2	TNRC6A|TNRC6A	24725085|24725085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.116000|5.116000	0.64661|0.64661	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.498	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		6	34	0	0	0	1	0	6	34					T	24817584	C	T	24817584	3	4	3	1	0	0	0	0	1	0	0	0	16337	643	23	2	4371	2	TNRC6A	16	24817584	Missense_Mutation	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		24817584	65537169	16	55										
STAT3	6774	broad.mit.edu	37	chr17	40478180	40478180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	gatacacctcggtctcaaagGtgatcaggtgcagctcctca	10	12	3	1			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chr17:40478180G>A	ENST00000264657.5	-	15	1631	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000588969.1_Missense_Mutation_p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	440					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GGTCTCAAAGGTGATCAGGTG	0.532									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1318-1320)aCc>aTc		signal transducer and activator of transcription 3 (acute-phase response factor)							123	106	112					17																	40478180		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40478180G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1319C>T	17.37:g.40478180G>A	ENSP00000264657:p.Thr440Ile					STAT3_ENST00000588969.1_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I	p.T440I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	15	1631	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	440					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1319C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197203	0.58126	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.87334	-2.24;-2.24;-2.24	5.8	5.8	0.92144	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.137944	0.64402	D	0.000003	D	0.84808	0.5554	L	0.32530	0.975	0.58432	D	0.999999	B;B;B	0.22909	0.062;0.077;0.077	B;B;B	0.32805	0.094;0.153;0.153	T	0.79188	-0.1906	10	0.37606	T	0.19	-21.6568	20.0635	0.97698	0.0:0.0:1.0:0.0	.	440;440;440	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	I	440;342;440	ENSP00000264657:T440I;ENSP00000373923:T342I;ENSP00000384943:T440I	ENSP00000264657:T440I	T	-	2	0	STAT3	37731706	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.572000	0.67411	2.745000	0.94114	0.494000	0.49563	ACC		0.532	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		3	30	0	0	0	1	0	3	30					A	40478180	G	A	40478180	3	1	3	1	0	0	0	0	1	0	0	0	15265	1261	44	3	1033	3	STAT3	17	40478180	Missense_Mutation	SNP	G	TCGA-P8-A5KC-01A-11D-A35D-08		40478180	40717030	17	56										
MAGED1	9500	broad.mit.edu	37	chrX	51637809	51637809	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.831818181818182	4.15909090909091	0	1	1	0	tctgcattccccactctgtgCgaccccccttattctcaact	4	18	3	0			TCGA-P8-A5KC-01A-11D-A35D-08	TCGA-P8-A5KC-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38099922-86e9-42a0-853b-b968e60ca1d9	95d751ac-600e-4020-acba-eabb0c007b98	g.chrX:51637809C>T	ENST00000375722.1	+	3	297				MAGED1_ENST00000375695.2_Silent_p.C44C|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375772.3_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.C44C(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCACTCTGTGCGACCCCCCTT	0.602										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			1	Substitution - coding silent(1)	p.C44C(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(130-132)tgC>tgT		melanoma antigen family D, 1							72	62	66					X																	51637809		2203	4300	6503	SO:0001627	intron_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637809C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.46-340C>T	X.37:g.51637809C>T		Multiple Myeloma(10;0.10)				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron	p.C44C	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			3	285	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.132C>T	CCDS14337.1																																																																																				0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		5	10	0	0	0	1	0	5	10					T	51637809	C	T	51637809	1	4	3	0	1	0	0	0	0	0	0	0	9183	776	27	1		1	MAGED1	23	51637809	Intron	SNP	C	TCGA-P8-A5KC-01A-11D-A35D-08		51637809	103632751	18	57										
NBPF14	25832	broad.mit.edu	37	chr1	148004602	148004602	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtggagacttgtcaccgtCaaagtaaaaaacctattgtc	9	8	2	1			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr1:148004602C>A	ENST00000369219.1	-	22	2728	c.2712G>T	c.(2710-2712)ttG>ttT	p.L904F				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	904	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TTGTCACCGTCAAAGTAAAAA	0.468																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(2710-2712)ttG>ttT		neuroblastoma breakpoint family, member 14							52	82	73					1																	148004602		2016	4175	6191	SO:0001583	missense	25832					cytoplasm		g.chr1:148004602C>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2712G>T	1.37:g.148004602C>A	ENSP00000358221:p.Leu904Phe						p.L904F			Q5TI25	NBPFE_HUMAN			22	2728	-	all_hematologic(923;0.032)		904			NBPF 10.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.2712G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.42|10.42	1.346045|1.346045	0.24426|0.24426	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701	T|.	0.07327|.	3.2|.	0.512|0.512	0.512|0.512	0.16994|0.16994	DUF1220 (1);|.	.|.	.|.	.|.	.|.	T|.	0.21921|.	0.0528|.	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;D;P|.	0.56035|.	0.054;0.974;0.935|.	B;P;P|.	0.51806|.	0.01;0.601;0.68|.	T|.	0.22034|.	-1.0228|.	8|.	0.62326|.	D|.	0.03|.	.|.	.|.	.|.	.|.	.|.	252;885;904|.	F8WEX8;B4DH59;Q5TI25|.	.;.;NBPFE_HUMAN|.	F|L	904;252|910	ENSP00000358221:L904F|.	ENSP00000358221:L904F|.	L|X	-|-	3|2	2|2	NBPF14|NBPF14	146471226|146471226	0.860000|0.860000	0.29831|0.29831	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	0.675000|0.675000	0.25232|0.25232	0.585000|0.585000	0.29608|0.29608	0.433000|0.433000	0.28618|0.28618	TTG|TGA		0.468	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		19	212	1	0	1.75199e-13	1	2.29106e-13	19	212					A	148004602	C	A	148004602	3	1	4	1	0	0	0	0	1	0	0	0	10194	825	29	5	57	5	NBPF14	1	148004602	Missense_Mutation	SNP	C	TCGA-P8-A5KD-01A-11D-A35D-08		148004602	101246019	1	58										
PRG4	10216	broad.mit.edu	37	chr1	186274011	186274012	+	Frame_Shift_Ins	INS	-	-	AA													0	0	1	0	0	0	1	1	0	ttcggaaaatcaagtcttccINSaaaaattcagctgctaatag							TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr1:186274011_186274012insAA	ENST00000445192.2	+	6	600_601	c.555_556insAA	c.(556-558)aaafs	p.K186fs	PRG4_ENST00000367484.3_Frame_Shift_Ins_p.K145fs|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.K145fs|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	186	Ser-rich.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCAAGTCTTCCAAAAATTCAGC	0.337																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(553-558)tcaaaafs		proteoglycan 4																																				SO:0001589	frameshift_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186274011_186274012insAA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.558_559dupAA	1.37:g.186274014_186274015dupAA	ENSP00000399679:p.Lys186fs					PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.SK144fs|PRG4_ENST00000367484.3_Frame_Shift_Ins_p.SK144fs	p.SK185fs	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			6	600_601	+			185			Ser-rich.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Frame_Shift_Ins	INS	ENST00000445192.2	37	c.555_556insAA	CCDS1369.1																																																																																				0.337	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		38	65						38	65	---	---	---	---	AA	186274012	-	AA	186274011	7	5	4	1	0	1	1	0	0	0	0	0	12481	581	21	0	573	0	PRG4	1	186274011	Frame_Shift_Ins	INS	-	TCGA-P8-A5KD-01A-11D-A35D-08	38269409	186274011	62976610	2	59										
SSFA2	6744	broad.mit.edu	37	chr2	182784164	182784164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttcacccttccgctcctcCgcactcatggtacgctacct	5	20	2	0	rs199858839		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr2:182784164C>T	ENST00000431877.2	+	14	3314	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000428267.2_Silent_p.S892S|SSFA2_ENST00000409136.1_Silent_p.S554S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1045						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCGCTCCTCCGCACTCATGG	0.527													C|||	1	0.000199681	0	0	5008	,	,		17234	0.001		0	False		,,,				2504	0					ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(3133-3135)tcC>tcT		sperm specific antigen 2							101	103	103					2																	182784164		2203	4300	6503	SO:0001819	synonymous_variant	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182784164C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3135C>T	2.37:g.182784164C>T						SSFA2_ENST00000428267.2_Silent_p.S892S|SSFA2_ENST00000409136.1_Silent_p.S554S|SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000467172.2_3'UTR	p.S1045S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		14	3314	+			1045					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	c.3135C>T	CCDS46467.1																																																																																				0.527	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		4	116	0	0	0	1	0	4	116					T	182784164	C	T	182784164	2	4	4	1	0	0	0	0	0	0	0	1	15182	639	23	2		2	SSFA2	2	182784164	Silent	SNP	C	TCGA-P8-A5KD-01A-11D-A35D-08		182784164	60415209	3	60										
SLC11A1	6556	broad.mit.edu	37	chr2	219247721	219247721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctaagcgggtccagctatGgttccatctccagcccgacc	11	15	1	0			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr2:219247721G>T	ENST00000233202.6	+	2	386	c.46G>T	c.(46-48)Ggt>Tgt	p.G16C	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	16	Pro/Ser-rich.				activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCAGCTATGGTTCCATCTc	0.597																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(46-48)Ggt>Tgt		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							84	68	73					2																	219247721		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219247721G>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.46G>T	2.37:g.219247721G>T	ENSP00000233202:p.Gly16Cys					SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	p.G16C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	386	+		Renal(207;0.0474)	16			Pro/Ser-rich.		C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.46G>T	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189491	0.57909	.	.	ENSG00000018280	ENST00000233202	T	0.18810	2.19	4.75	4.75	0.60458	.	0.169277	0.40302	N	0.001127	T	0.45617	0.1351	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.42582	-0.9443	10	0.62326	D	0.03	-25.615	13.1213	0.59327	0.0:0.0:1.0:0.0	.	16;16;16	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	C	16	ENSP00000233202:G16C	ENSP00000233202:G16C	G	+	1	0	SLC11A1	218955965	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.823000	0.62694	2.485000	0.83878	0.313000	0.20887	GGT		0.597	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		3	29	1	0	6.4e-05	1	7.25333e-05	3	29					T	219247721	G	T	219247721	3	4	4	1	0	0	0	0	1	0	0	0	14380	1348	47	5	52	5	SLC11A1	2	219247721	Missense_Mutation	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08	36463557	219247721	23951652	4	61										
NISCH	11188	broad.mit.edu	37	chr3	52521842	52521842	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcttcctcatgccggagctGtgtctggtgctcaaggtacg	14	11	3	0	rs150301138		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr3:52521842G>T	ENST00000479054.1	+	17	2406	c.2334G>T	c.(2332-2334)ctG>ctT	p.L778L	NISCH_ENST00000345716.4_Silent_p.L778L			Q9Y2I1	NISCH_HUMAN	nischarin	778	Interaction with ITGA5. {ECO:0000250}.|Interaction with LIMK. {ECO:0000250}.|Interaction with PAK1. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TGCCGGAGCTGTGTCTGGTGC	0.597																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2332-2334)ctG>ctT		nischarin							100	85	90					3																	52521842		2203	4300	6503	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521842G>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2334G>T	3.37:g.52521842G>T						NISCH_ENST00000479054.1_Silent_p.L778L	p.L778L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2468	+			778			Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.2334G>T	CCDS33767.1																																																																																				0.597	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		11	23	1	0	0.0809354	1	0.0859938	11	23					T	52521842	G	T	52521842	2	4	4	1	0	0	0	0	0	0	0	1	10432	1364	48	5		5	NISCH	3	52521842	Silent	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		52521842	145500588	5	62										
ACOT12	134526	broad.mit.edu	37	chr5	80643655	80643655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggccaccaaatgtatttccGtgatggtttgcatggggtgg	14	7	0	1	rs149420016		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr5:80643655G>A	ENST00000307624.3	-	6	619	c.591C>T	c.(589-591)caC>caT	p.H197H		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	197	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATGTATTTCCGTGATGGTTTG	0.488																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(589-591)caC>caT		acyl-CoA thioesterase 12							270	259	263					5																	80643655		2203	4300	6503	SO:0001819	synonymous_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643655G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.591C>T	5.37:g.80643655G>A							p.H197H	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	6	619	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	197			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Silent	SNP	ENST00000307624.3	37	c.591C>T	CCDS4055.1																																																																																				0.488	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		82	146	0	0	0	1	0	82	146					A	80643655	G	A	80643655	2	1	4	1	0	0	0	0	0	0	0	1	150	1136	40	1		1	ACOT12	5	80643655	Silent	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		80643655	100271605	6	63										
TBC1D2	55357	broad.mit.edu	37	chr9	100961724	100961724	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	cggacacagctctgcgccggGatgcccgcctctccaggtac	12	17	2	0			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr9:100961724G>C	ENST00000375066.5	-	13	2784	c.2693C>G	c.(2692-2694)tCc>tGc	p.S898C	TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	909					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCTGCGCCGGGATGCCCGCCT	0.677																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2692-2694)tCc>tGc		TBC1 domain family, member 2							74	77	76					9																	100961724		2203	4299	6502	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961724G>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2693C>G	9.37:g.100961724G>C	ENSP00000364207:p.Ser898Cys					TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C	p.S898C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2784	-		Myeloproliferative disorder(762;0.0255)	909					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2693C>G	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425402	0.43020	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09163	3.01;3.43;3.02	5.51	-0.997	0.10215	.	0.932048	0.09209	N	0.833567	T	0.08802	0.0218	L	0.47716	1.5	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.002;0.004	T	0.40021	-0.9585	10	0.59425	D	0.04	.	2.6561	0.05013	0.1566:0.417:0.2278:0.1986	.	909;898	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	C	898;691;449	ENSP00000364207:S898C;ENSP00000341567:S691C;ENSP00000364203:S449C	ENSP00000341567:S691C	S	-	2	0	TBC1D2	100001545	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.106000	0.10890	0.246000	0.21394	0.511000	0.50034	TCC		0.677	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		6	97	0	0	0	1	0	6	97					C	100961724	G	C	100961724	3	2	4	1	0	0	0	0	1	0	0	0	15605	1174	41	5	64	5	TBC1D2	9	100961724	Missense_Mutation	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		100961724	40251707	7	64										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		47	49	0	0	0	1	0	47	49					C	533874	T	C	533874	3	2	4	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-P8-A5KD-01A-11D-A35D-08		533874	134472642	8	65										
JPH4	84502	broad.mit.edu	37	chr14	24046493	24046493	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	ggccctggtagctgtgtccgCcgggccccgtgaagacgccc							TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr14:24046493delC	ENST00000397118.3	-	3	1072	c.170delG	c.(169-171)ggcfs	p.G58fs	JPH4_ENST00000356300.4_Frame_Shift_Del_p.G58fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	58					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTGTGTCCGCCGGGCCCCGT	0.731																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(169-171)gcfs		junctophilin 4							6	8	7					14																	24046493		2018	3973	5991	SO:0001589	frameshift_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24046493delC	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.170delG	14.37:g.24046493delC	ENSP00000380307:p.Gly58fs					JPH4_ENST00000356300.4_Frame_Shift_Del_p.G58fs	p.G58fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	1072	-	all_cancers(95;0.000251)		58					D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Del	DEL	ENST00000397118.3	37	c.170delG	CCDS9603.1																																																																																				0.731	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		2	4						2	4	---	---	---	---	-	24046493	C	-	24046493	7	5	4	1	0	1	0	1	0	0	0	0	7963	739	26	0	1736	0	JPH4	14	24046493	Frame_Shift_Del	DEL	C	TCGA-P8-A5KD-01A-11D-A35D-08		24046493	83303047	9	66										
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		7	219	0	0	0	1	0	7	219					T	3293588	C	T	3293588	2	4	4	1	0	0	0	0	0	0	0	1	9459	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-P8-A5KD-01A-11D-A35D-08		3293588	87061165	10	67										
NKD1	85407	broad.mit.edu	37	chr16	50664747	50664747	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	ccggactcagacctgcagagCgcaaggccccgagcagagac					rs544014073		TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr16:50664747delC	ENST00000268459.3	+	8	845	c.621delC	c.(619-621)agcfs	p.S207fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	207					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACCTGCAGAGCGCAAGGCCCC	0.652																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(619-621)agfs		naked cuticle homolog 1 (Drosophila)							34	30	31					16																	50664747		2184	4294	6478	SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664747delC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.621delC	16.37:g.50664747delC	ENSP00000268459:p.Ser207fs						p.S207fs	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	8	845	+		all_cancers(37;0.229)	207					B2RC39|Q8WZ08	Frame_Shift_Del	DEL	ENST00000268459.3	37	c.621delC	CCDS10743.1																																																																																				0.652	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			2	4						2	4	---	---	---	---	-	50664747	C	-	50664747	7	5	4	1	0	1	0	1	0	0	0	0	10441	767	27	0	651	0	NKD1	16	50664747	Frame_Shift_Del	DEL	C	TCGA-P8-A5KD-01A-11D-A35D-08	47371159	50664747	39690006	11	68										
DNAH17	8632	broad.mit.edu	37	chr17	76457712	76457712	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcctcgatgccgaccacctGgatcagttggtctgcgctct	12	14	3	0			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr17:76457712G>A	ENST00000585328.1	-	58	9362	c.9238C>T	c.(9238-9240)Cag>Tag	p.Q3080*	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Q3071*	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3071	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGACCACCTGGATCAGTTGG	0.527																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9211-9213)Cag>Tag		dynein, axonemal, heavy chain 17							92	66	75					17																	76457712		2203	4300	6503	SO:0001587	stop_gained	8632							g.chr17:76457712G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9238C>T	17.37:g.76457712G>A	ENSP00000465516:p.Gln3080*					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Q3080*	p.Q3071*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		58	9335	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.9211C>T		.	.	.	.	.	.	.	.	.	.	G	50	16.702698	0.99870	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.14	4.14	0.48551	.	0.507362	0.16779	N	0.199871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	9.8615	0.41118	0.0975:0.0:0.9025:0.0	.	.	.	.	X	3080;3071	.	ENSP00000300671:Q3080X	Q	-	1	0	DNAH17	73969307	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	3.516000	0.53436	1.846000	0.53633	0.563000	0.77884	CAG		0.527	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	12	0	0	0	1	0	5	12					A	76457712	G	A	76457712	4	1	4	1	0	0	0	0	0	1	0	0	4601	1357	47	3	4231	3	DNAH17	17	76457712	Nonsense_Mutation	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		76457712	4737498	12	69										
WDR18	57418	broad.mit.edu	37	chr19	990349	990349	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	cgggtggccacctcctcactGgaccagacggtgaaggtacg							TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chr19:990349delG	ENST00000251289.5	+	4	605	c.582delG	c.(580-582)ctgfs	p.L194fs	WDR18_ENST00000587001.2_Frame_Shift_Del_p.L194fs	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	194					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTCACTGGACCAGACGG	0.701																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(580-582)ctfs		WD repeat domain 18							11	12	12					19																	990349		2169	4266	6435	SO:0001589	frameshift_variant	57418							g.chr19:990349delG		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.582delG	19.37:g.990349delG	ENSP00000251289:p.Leu194fs					WDR18_ENST00000587001.2_Frame_Shift_Del_p.L194fs	p.L194fs	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	605	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	194					O60390|Q9BWR2	Frame_Shift_Del	DEL	ENST00000251289.5	37	c.582delG	CCDS12051.1																																																																																				0.701	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			3	5						3	5	---	---	---	---	-	990349	G	-	990349	7	5	4	1	0	1	0	1	0	0	0	0	17275	1335	47	0	596	0	WDR18	19	990349	Frame_Shift_Del	DEL	G	TCGA-P8-A5KD-01A-11D-A35D-08		990349	58138634	13	70										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-P8-A5KD-01A-11D-A35D-08	TCGA-P8-A5KD-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6d1ab98-19a0-40b0-ba01-e55a51c61b0d	ce04400e-4148-4408-a9f5-a4ddaca639f9	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	77	0	0	0	1	0	4	77					A	150156360	G	A	150156360	2	1	4	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-P8-A5KD-01A-11D-A35D-08		150156360	5114200	14	71										
MYOM3	127294	broad.mit.edu	37	chr1	24392434	24392434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggtcatactgaccatctgGcatctctgccctctggaaga	10	12	4	2			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:24392434G>A	ENST00000374434.3	-	29	3643	c.3481C>T	c.(3481-3483)Cca>Tca	p.P1161S	MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|MYOM3_ENST00000330966.7_Missense_Mutation_p.P1164S|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1161	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGACCATCTGGCATCTCTGCC	0.542																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3490-3492)Cca>Tca		myomesin 3							155	152	153					1																	24392434		1944	4136	6080	SO:0001583	missense	127294							g.chr1:24392434G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3481C>T	1.37:g.24392434G>A	ENSP00000363557:p.Pro1161Ser					RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S|MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1161S	p.P1164S			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	29	3652	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1161			Ig-like C2-type 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3490C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	7.733	0.699596	0.15106	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442;ENST00000329601	T;T;T;T	0.54279	2.04;2.8;2.8;0.58	5.76	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.257228	0.38272	N	0.001753	T	0.33206	0.0855	L	0.41710	1.295	0.21220	N	0.999753	B;B;B	0.31153	0.02;0.31;0.041	B;B;B	0.27887	0.018;0.084;0.032	T	0.25916	-1.0118	10	0.06625	T	0.88	.	4.6273	0.12484	0.1362:0.1224:0.6147:0.1267	.	1161;1161;54	Q5VTT5-2;Q5VTT5;Q5VTT5-3	.;MYOM3_HUMAN;.	S	54;1161;1164;54;1163	ENSP00000342689:P54S;ENSP00000363557:P1161S;ENSP00000332670:P1164S;ENSP00000328415:P1163S	ENSP00000328415:P1163S	P	-	1	0	MYOM3	24265021	0.989000	0.36119	0.052000	0.19188	0.010000	0.07245	2.093000	0.41710	1.449000	0.47699	-0.119000	0.15052	CCA		0.542	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		37	98	0	0	0	1	0	37	98					A	24392434	G	A	24392434	3	1	5	1	0	0	0	0	1	0	0	0	10093	1203	42	3	868	3	MYOM3	1	24392434	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		24392434	224858187	1	72										
CD5L	922	broad.mit.edu	37	chr1	157805895	157805895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttctgttccacctccacccGcccttcacagcggtggaggc	9	17	2	0	rs145458344		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:157805895G>A	ENST00000368174.4	-	3	202	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	36	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R36W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTCCACCCGCCCTTCACAG	0.632																																						ENST00000368174.4																			1	Substitution - Missense(1)	p.R36W(1)	endometrium(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(106-108)Cgg>Tgg		CD5 molecule-like							57	58	58					1																	157805895		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805895G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.106C>T	1.37:g.157805895G>A	ENSP00000357156:p.Arg36Trp					CD5L_ENST00000484609.1_5'UTR	p.R36W	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	202	-	all_hematologic(112;0.0378)		36			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.106C>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832243	0.50845	.	.	ENSG00000073754	ENST00000368174	T	0.36340	1.26	4.85	1.81	0.25067	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.559620	0.14794	N	0.298079	T	0.62380	0.2423	H	0.96916	3.905	0.35581	D	0.806289	D	0.89917	1.0	D	0.97110	1.0	T	0.72014	-0.4418	10	0.87932	D	0	.	11.8614	0.52467	0.0:0.0:0.3868:0.6132	.	36	O43866	CD5L_HUMAN	W	36	ENSP00000357156:R36W	ENSP00000357156:R36W	R	-	1	2	CD5L	156072519	0.201000	0.23410	0.722000	0.30670	0.306000	0.27790	1.084000	0.30828	0.195000	0.20347	0.563000	0.77884	CGG		0.632	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		25	47	0	0	0	1	0	25	47					A	157805895	G	A	157805895	3	1	5	1	0	0	0	0	1	0	0	0	3027	1086	38	1	953	1	CD5L	1	157805895	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	133413461	157805895	91444726	2	73										
RAB3GAP2	25782	broad.mit.edu	37	chr1	220346011	220346011	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggagggacagcatggtaTgaagacagcagattgactgt	14	6	1	4			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:220346011T>A	ENST00000358951.2	-	22	2500	c.2384A>T	c.(2383-2385)cAt>cTt	p.H795L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	795					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGCATGGTATGAAGACAGCA	0.383																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2383-2385)cAt>cTt		RAB3 GTPase activating protein subunit 2 (non-catalytic)							133	118	123					1																	220346011		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220346011T>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2384A>T	1.37:g.220346011T>A	ENSP00000351832:p.His795Leu						p.H795L	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	22	2500	-			795					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2384A>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726480	0.69074	.	.	ENSG00000118873	ENST00000358951	T	0.30981	1.51	5.69	5.69	0.88448	.	0.095287	0.64402	D	0.000001	T	0.27278	0.0669	L	0.48642	1.525	0.53688	D	0.999973	B	0.12630	0.006	B	0.14578	0.011	T	0.10019	-1.0648	10	0.08599	T	0.76	.	15.9415	0.79758	0.0:0.0:0.0:1.0	.	795	Q9H2M9	RBGPR_HUMAN	L	795	ENSP00000351832:H795L	ENSP00000351832:H795L	H	-	2	0	RAB3GAP2	218412634	1.000000	0.71417	0.930000	0.37139	0.982000	0.71751	4.890000	0.63178	2.157000	0.67596	0.533000	0.62120	CAT		0.383	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		5	30	0	0	0	1	0	5	30					A	220346011	T	A	220346011	3	1	5	1	0	0	0	0	1	0	0	0	12936	1464	51	5	1853	5	RAB3GAP2	1	220346011	Missense_Mutation	SNP	T	TCGA-P8-A6RX-01A-11D-A35D-08	62540116	220346011	28904610	3	74										
ABCA12	26154	broad.mit.edu	37	chr2	215847076	215847076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tgttccaactctcttatgacGatggctatatagtccagtat	7	9	1	1			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr2:215847076G>A	ENST00000272895.7	-	30	4633	c.4414C>T	c.(4414-4416)Cgt>Tgt	p.R1472C	ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1472	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTATGACGATGGCTATAT	0.343																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4414-4416)Cgt>Tgt		ATP-binding cassette, sub-family A (ABC1), member 12							139	128	132					2																	215847076		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215847076G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4414C>T	2.37:g.215847076G>A	ENSP00000272895:p.Arg1472Cys					ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C	p.R1472C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	30	4633	-		Renal(323;0.127)	1472			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4414C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943906	0.73672	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93659	-3.26;-3.26	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.162847	0.44688	D	0.000439	D	0.96744	0.8937	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.944	D	0.96534	0.9395	10	0.72032	D	0.01	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1472;1154	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	C	1472;1154	ENSP00000272895:R1472C;ENSP00000374312:R1154C	ENSP00000272895:R1472C	R	-	1	0	ABCA12	215555321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.966000	0.70395	2.941000	0.99782	0.655000	0.94253	CGT		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		23	41	0	0	0	1	0	23	41					A	215847076	G	A	215847076	3	1	5	1	0	0	0	0	1	0	0	0	30	1058	37	2	3469	2	ABCA12	2	215847076	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		215847076	27352297	4	75										
ENC1	8507	broad.mit.edu	37	chr5	73931637	73931637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttctgggaggtagcaatagCgcttcttcaggtcatagctg	13	8	4	0	rs61758147		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr5:73931637C>T	ENST00000302351.4	-	2	1804	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ENC1_ENST00000537006.1_Missense_Mutation_p.R225H|ENC1_ENST00000510316.1_Missense_Mutation_p.R152H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	225					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R225H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTAGCAATAGCGCTTCTTCAG	0.493																																						ENST00000302351.4																			1	Substitution - Missense(1)	p.R225H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(673-675)cGc>cAc		ectodermal-neural cortex 1 (with BTB domain)							87	85	86					5																	73931637		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931637C>T	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.674G>A	5.37:g.73931637C>T	ENSP00000306356:p.Arg225His					ENC1_ENST00000510316.1_Missense_Mutation_p.R152H|ENC1_ENST00000537006.1_Missense_Mutation_p.R225H	p.R225H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1804	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	225					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.674G>A	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697387	0.88830	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	5.8	0.92144	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.90833	0.4718	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	rs61758147	225	O14682	ENC1_HUMAN	H	225;152;225	ENSP00000306356:R225H;ENSP00000423804:R152H;ENSP00000446289:R225H	ENSP00000306356:R225H	R	-	2	0	ENC1	73967393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	CGC		0.493	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		13	40	0	0	0	1	0	13	40					T	73931637	C	T	73931637	3	4	5	1	0	0	0	0	1	0	0	0	5113	768	27	1	1099	1	ENC1	5	73931637	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		73931637	106983623	5	76										
CUL1	8454	broad.mit.edu	37	chr7	148427298	148427298	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgacctcagagccggcatCcagcaggtgtacacacggca	12	14	1	1			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr7:148427298C>G	ENST00000325222.4	+	2	363	c.84C>G	c.(82-84)atC>atG	p.I28M	CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M|AC005229.1_ENST00000578165.1_RNA	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(82-84)atC>atG		cullin 1							103	90	94					7																	148427298		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427298C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.84C>G	7.37:g.148427298C>G	ENSP00000326804:p.Ile28Met					CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M	p.I28M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	363	+	Melanoma(164;0.15)		28					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.84C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681871	0.68042	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.80033	-1.33;-1.33	5.79	1.87	0.25490	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.68593	2.085	0.80722	D	1	D	0.53745	0.962	P	0.55615	0.78	T	0.79065	-0.1956	10	0.62326	D	0.03	-25.454	5.4826	0.16731	0.1315:0.5367:0.0:0.3318	.	28	Q13616	CUL1_HUMAN	M	28	ENSP00000387160:I28M;ENSP00000326804:I28M	ENSP00000326804:I28M	I	+	3	3	CUL1	148058231	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.376000	0.20535	0.347000	0.23924	-1.083000	0.02208	ATC		0.547	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		6	90	0	0	0	1	0	6	90					G	148427298	C	G	148427298	3	3	5	1	0	0	0	0	1	0	0	0	4054	845	30	5	86	5	CUL1	7	148427298	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		148427298	10711365	6	77										
BMP1	649	broad.mit.edu	37	chr8	22067192	22067192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacagcccccaggctggggcGctactgtggctcaggggtga	16	13	1	1			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:22067192G>A	ENST00000306385.5	+	19	3480	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	937	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGCTGGGGCGCTACTGTGGC	0.657																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2809-2811)cGc>cAc		bone morphogenetic protein 1							92	90	91					8																	22067192		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22067192G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2810G>A	8.37:g.22067192G>A	ENSP00000305714:p.Arg937His					BMP1_ENST00000354870.5_3'UTR	p.R937H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3480	+			937			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2810G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082991	0.76642	.	.	ENSG00000168487	ENST00000306385	T	0.20069	2.1	4.64	4.64	0.57946	CUB (5);	0.000000	0.39274	U	0.001412	T	0.31857	0.0810	M	0.90252	3.1	0.80722	D	1	P	0.47409	0.895	B	0.36186	0.219	T	0.53683	-0.8404	10	0.59425	D	0.04	.	16.4279	0.83824	0.0:0.0:1.0:0.0	.	937	P13497	BMP1_HUMAN	H	937	ENSP00000305714:R937H	ENSP00000305714:R937H	R	+	2	0	BMP1	22123137	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.657000	0.98554	2.411000	0.81874	0.467000	0.42956	CGC		0.657	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		40	53	0	0	0	1	0	40	53					A	22067192	G	A	22067192	3	1	5	1	0	0	0	0	1	0	0	0	1456	1087	38	1	2974	1	BMP1	8	22067192	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		22067192	124296830	7	78										
SDC2	6383	broad.mit.edu	37	chr8	97621721	97621721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagctatgaccttggagaacGcaaaccatccagtgctgctt	9	11	0	2	rs183417451		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:97621721G>T	ENST00000302190.4	+	5	1472	c.551G>T	c.(550-552)cGc>cTc	p.R184L	SDC2_ENST00000522911.1_Missense_Mutation_p.R155L|SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000519914.1_Missense_Mutation_p.R155L	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	184					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	CTTGGAGAACGCAAACCATCC	0.413													G|||	1	0.000199681	0	0.0014	5008	,	,		16748	0		0	False		,,,				2504	0					ENST00000302190.4																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(550-552)cGc>cTc		syndecan 2	Sargramostim(DB00020)						129	114	119					8																	97621721		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97621721G>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.551G>T	8.37:g.97621721G>T	ENSP00000307046:p.Arg184Leu					SDC2_ENST00000522911.1_Missense_Mutation_p.R155L|SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000519914.1_Missense_Mutation_p.R155L	p.R184L	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN			5	1472	+	Breast(36;3.41e-05)		184					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.551G>T	CCDS6272.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.58	3.424369	0.62733	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914	T;T;T;T	0.34472	1.36;1.43;1.38;1.38	6.05	6.05	0.98169	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.56679	-0.7939	10	0.56958	D	0.05	-10.3267	16.0133	0.80420	0.0:0.1336:0.8664:0.0	.	184	P34741	SDC2_HUMAN	L	184;148;184;174;155;155	ENSP00000307046:R184L;ENSP00000429045:R148L;ENSP00000427784:R155L;ENSP00000428256:R155L	ENSP00000307046:R184L	R	+	2	0	SDC2	97690897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.845000	0.86875	2.878000	0.98634	0.650000	0.86243	CGC		0.413	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		31	41	1	0	2.08457e-15	1	2.21485e-15	31	41					T	97621721	G	T	97621721	3	4	5	1	0	0	0	0	1	0	0	0	13952	1087	38	5	569	5	SDC2	8	97621721	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	75554529	97621721	48742301	8	79										
CYP11B2	1585	broad.mit.edu	37	chr8	143994109	143994109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgggaacaaggcggcattgCgacccagcgagtagaggaaa	15	9	0	1			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:143994109C>T	ENST00000323110.2	-	8	1237	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	412					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCGGCATTGCGACCCAGCGA	0.602									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1234-1236)cGc>cAc		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						95	93	94					8																	143994109		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994109C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1235G>A	8.37:g.143994109C>T	ENSP00000325822:p.Arg412His						p.R412H	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			8	1237	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		412					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1235G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.403842	0.62288	.	.	ENSG00000179142	ENST00000323110	T	0.72942	-0.7	3.52	3.52	0.40303	.	0.000000	0.45867	D	0.000328	T	0.73853	0.3640	M	0.64630	1.985	0.46298	D	0.998976	P	0.45715	0.865	P	0.49922	0.626	T	0.76321	-0.3002	10	0.49607	T	0.09	.	12.9218	0.58237	0.0:1.0:0.0:0.0	.	412	P19099	C11B2_HUMAN	H	412	ENSP00000325822:R412H	ENSP00000325822:R412H	R	-	2	0	CYP11B2	143991111	0.999000	0.42202	0.641000	0.29422	0.009000	0.06853	4.416000	0.59815	1.937000	0.56155	0.563000	0.77884	CGC		0.602	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			3	51	0	0	0	1	0	3	51					T	143994109	C	T	143994109	3	4	5	1	0	0	0	0	1	0	0	0	4146	768	27	1	284	1	CYP11B2	8	143994109	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	46372388	143994109	2369913	9	80										
APBA1	320	broad.mit.edu	37	chr9	72056012	72056012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tcacgatattcagcttgactCgggactgattctttaagccc	8	11	3	2			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:72056012C>T	ENST00000265381.4	-	11	2423	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	734	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTTGACTCGGGACTGATT	0.473																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2200-2202)cGa>cAa		amyloid beta (A4) precursor protein-binding, family A, member 1							136	119	124					9																	72056012		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72056012C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2201G>A	9.37:g.72056012C>T	ENSP00000265381:p.Arg734Gln						p.R734Q	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			11	2423	-			734			PDZ 1.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.2201G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639645	0.29157	.	.	ENSG00000107282	ENST00000265381	T	0.26518	1.73	5.91	5.91	0.95273	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.04508	-0.205	0.58432	D	0.999999	P	0.35139	0.486	B	0.19666	0.026	T	0.18116	-1.0347	10	0.05833	T	0.94	-14.8821	20.2985	0.98592	0.0:1.0:0.0:0.0	.	734	Q02410	APBA1_HUMAN	Q	734	ENSP00000265381:R734Q	ENSP00000265381:R734Q	R	-	2	0	APBA1	71245832	0.980000	0.34600	0.983000	0.44433	0.910000	0.53928	2.523000	0.45580	2.793000	0.96121	0.655000	0.94253	CGA		0.473	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		23	43	0	0	0	1	0	23	43					T	72056012	C	T	72056012	3	4	5	1	0	0	0	0	1	0	0	0	756	884	31	2	324	2	APBA1	9	72056012	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		72056012	69157419	10	81										
PSAT1	29968	broad.mit.edu	37	chr9	80923397	80923397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcaccgtggtgattgtccGtgatgacctgctggggtttg	16	8	1	3			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:80923397G>A	ENST00000376588.3	+	6	706	c.638G>A	c.(637-639)cGt>cAt	p.R213H	PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	213					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GTGATTGTCCGTGATGACCTG	0.522																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(637-639)cGt>cAt		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						144	122	129					9																	80923397		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923397G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.638G>A	9.37:g.80923397G>A	ENSP00000365773:p.Arg213His					PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H	p.R213H	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			6	706	+			213					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.638G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622463	0.96660	.	.	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.83289	0.5222	M	0.83118	2.625	0.80722	D	1	D;P	0.89917	1.0;0.937	D;P	0.65443	0.935;0.549	D	0.85369	0.1112	10	0.87932	D	0	-0.1772	19.5905	0.95508	0.0:0.0:1.0:0.0	.	213;213	Q9Y617-2;Q9Y617	.;SERC_HUMAN	H	37;213;213	ENSP00000317606:R213H;ENSP00000365773:R213H	ENSP00000317606:R213H	R	+	2	0	PSAT1	80113217	1.000000	0.71417	0.923000	0.36655	0.975000	0.68041	9.409000	0.97331	2.638000	0.89438	0.557000	0.71058	CGT		0.522	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		21	40	0	0	0	1	0	21	40					A	80923397	G	A	80923397	3	1	5	1	0	0	0	0	1	0	0	0	12644	1145	40	1	660	1	PSAT1	9	80923397	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	8867385	80923397	60290034	11	82										
FLJ46321	389763	broad.mit.edu	37	chr9	84608005	84608005	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cccacagccaaattaaacatCgaaatctggtaacattggtg	7	10	1	0			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:84608005C>T	ENST00000344803.2	+	4	2667	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	874					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATTAAACATCGAAATCTGGT	0.438																																						ENST00000344803.2																			0											c.(2620-2622)Cga>Tga		SPATA31 subfamily D, member 1							108	93	97					9																	84608005		1887	4129	6016	SO:0001587	stop_gained	389763							g.chr9:84608005C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2620C>T	9.37:g.84608005C>T	ENSP00000341988:p.Arg874*						p.R874*	NM_001001670.2	NP_001001670.1					4	2667	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.2620C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919733	0.92249	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.86	-2.0	0.07433	.	2.170440	0.01781	N	0.031786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1269	4.6677	0.12673	0.3392:0.5051:0.1557:0.0	.	.	.	.	X	874	.	ENSP00000341988:R874X	R	+	1	2	FAM75D1	83797825	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.173000	0.09854	-0.334000	0.08463	-1.035000	0.02400	CGA		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		11	40	0	0	0	1	0	11	40					T	84608005	C	T	84608005	4	4	5	1	0	0	0	0	0	1	0	0	5932	876	31	2	2634	2	FLJ46321	9	84608005	Nonsense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	3684608	84608005	56605426	12	83										
PRB2	653247	broad.mit.edu	37	chr12	11546415	11546415	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggggtggtccttgtggcttTcctggaggaggtgggggacc	21	7	0	0			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:11546415T>C	ENST00000389362.4	-	3	632	c.597A>G	c.(595-597)ggA>ggG	p.G199G	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	199	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTGGCTTTCCTGGAGGAG	0.597																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(595-597)ggA>ggG		proline-rich protein BstNI subfamily 2							81	85	84					12																	11546415		2109	4178	6287	SO:0001819	synonymous_variant	653247							g.chr12:11546415T>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.597A>G	12.37:g.11546415T>C						PRB1_ENST00000546254.1_Intron	p.G199G	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	632	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	c.597A>G	CCDS41757.2																																																																																				0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		54	120	0	0	0	1	0	54	120					C	11546415	T	C	11546415	2	2	5	1	0	0	0	0	0	0	0	1	12443	1770	62	4		4	PRB2	12	11546415	Silent	SNP	T	TCGA-P8-A6RX-01A-11D-A35D-08		11546415	122305480	13	84										
CNTN1	1272	broad.mit.edu	37	chr12	41333285	41333285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtggcttgtcaatagcagCaggtcagtgctgaaactaga	13	7	2	2			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:41333285C>A	ENST00000551295.2	+	12	1494	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	459	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCAATAGCAGCAGGTCAGTGC	0.353																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1375-1377)agC>agA		contactin 1							70	69	69					12																	41333285		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333285C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1377C>A	12.37:g.41333285C>A	ENSP00000447006:p.Ser459Arg					CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R	p.S459R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			12	1494	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	459			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1377C>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117431	0.37339	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	4.98	2.17	0.27698	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198109	0.52532	D	0.000062	T	0.37732	0.1014	L	0.39633	1.23	0.38069	D	0.936325	P;D;D	0.59767	0.862;0.983;0.986	P;D;D	0.70227	0.826;0.945;0.968	T	0.19647	-1.0299	10	0.23302	T	0.38	.	7.6787	0.28500	0.0:0.6059:0.0:0.3941	.	459;448;459	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	R	459;459;459;459;459;448	ENSP00000448004:S459R;ENSP00000447006:S459R;ENSP00000448653:S459R;ENSP00000325660:S459R;ENSP00000353213:S459R;ENSP00000261160:S448R	ENSP00000325660:S459R	S	+	3	2	CNTN1	39619552	0.971000	0.33674	0.994000	0.49952	0.488000	0.33401	0.266000	0.18534	0.769000	0.33313	0.561000	0.74099	AGC		0.353	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		11	12	1	0	2.80697e-09	1	2.89203e-09	11	12					A	41333285	C	A	41333285	3	1	5	1	0	0	0	0	1	0	0	0	3640	709	25	5	1419	5	CNTN1	12	41333285	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	29786870	41333285	92518610	14	85										
USP15	9958	broad.mit.edu	37	chr12	62785104	62785104	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactcacgggacacaaaaaaCgattgtttacattccagttc	6	10	1	0	rs149953550		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:62785104C>T	ENST00000280377.5	+	16	2186	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R681*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	710	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACACAAAAAACGATTGTTTAC	0.373																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2128-2130)Cga>Tga		ubiquitin specific peptidase 15							116	114	114					12																	62785104		2203	4300	6503	SO:0001587	stop_gained	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785104C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2128C>T	12.37:g.62785104C>T	ENSP00000280377:p.Arg710*					USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*|USP15_ENST00000353364.3_Nonsense_Mutation_p.R681*	p.R710*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2186	+			710					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Nonsense_Mutation	SNP	ENST00000280377.5	37	c.2128C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410931	0.97546	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	.	.	.	5.59	1.31	0.21738	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5548	15.1974	0.73104	0.5042:0.4957:0.0:0.0	.	.	.	.	X	681;710;685	.	.	R	+	1	2	USP15	61071371	0.933000	0.31639	0.986000	0.45419	0.995000	0.86356	1.745000	0.38278	0.241000	0.21283	0.563000	0.77884	CGA		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		20	32	0	0	0	1	0	20	32					T	62785104	C	T	62785104	4	4	5	1	0	0	0	0	0	1	0	0	17043	528	19	1	2099	1	USP15	12	62785104	Nonsense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	21451819	62785104	71066791	15	86										
KDM6B	23135	broad.mit.edu	37	chr17	7752181	7752181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcggcccctagcgcccagGgctccccacagccctctgct	10	21	1	0			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:7752181G>A	ENST00000448097.2	+	11	2906	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	KDM6B_ENST00000254846.5_Missense_Mutation_p.G859S			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	859	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TAGCGCCCAGGGCTCCCCACA	0.721																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2575-2577)Ggc>Agc		lysine (K)-specific demethylase 6B							25	32	30					17																	7752181		2190	4276	6466	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752181G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2575G>A	17.37:g.7752181G>A	ENSP00000412513:p.Gly859Ser					KDM6B_ENST00000448097.2_Missense_Mutation_p.G859S	p.G859S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2964	+			859			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2575G>A		.	.	.	.	.	.	.	.	.	.	G	13.90	2.376452	0.42105	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.76839	-1.05;-1.05	4.47	3.42	0.39159	.	0.445393	0.21996	N	0.066076	T	0.59362	0.2188	N	0.14661	0.345	0.32416	N	0.550014	B;B	0.33103	0.16;0.397	B;B	0.32090	0.045;0.14	T	0.64829	-0.6315	10	0.26408	T	0.33	-15.8647	11.6902	0.51510	0.0:0.0:0.8227:0.1773	.	859;859	O15054;O15054-1	KDM6B_HUMAN;.	S	859	ENSP00000254846:G859S;ENSP00000412513:G859S	ENSP00000254846:G859S	G	+	1	0	KDM6B	7692906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.647000	0.37260	2.490000	0.84030	0.462000	0.41574	GGC		0.721	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		20	38	0	0	0	1	0	20	38					A	7752181	G	A	7752181	3	1	5	1	0	0	0	0	1	0	0	0	8138	1232	43	3	2605	3	KDM6B	17	7752181	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		7752181	73443029	16	87										
CRHR1	1394	broad.mit.edu	37	chr17	43912060	43912060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatccgtgcccgagtggcccGtgccatgtccatccccacct	10	18	0	0	rs530958757	byFrequency	TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:43912060G>A	ENST00000398285.3	+	14	1265	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	CRHR1_ENST00000314537.5_Missense_Mutation_p.R393H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M|CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	422					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CGAGTGGCCCGTGCCATGTCC	0.627													G|||	2	0.000399361	8e-04	0	5008	,	,		19579	0.001		0	False		,,,				2504	0				Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(1177-1179)cGt>cAt		corticotropin releasing hormone receptor 1							67	82	77					17																	43912060		2195	4296	6491	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912060G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1265G>A	17.37:g.43912060G>A	ENSP00000381333:p.Arg422His					CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R422H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M	p.R393H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	13	1403	+	Colorectal(2;0.0416)		422					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.1178G>A	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668774|4.668774	0.88348|0.88348	.|.	.|.	ENSG00000120088|ENSG00000120088	ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855|ENST00000339069	T;T;T;T|T	0.73575|0.50277	-0.76;-0.76;-0.76;-0.76|0.75	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.171961|.	0.52532|.	D|.	0.000063|.	T|T	0.47673|0.47673	0.1458|0.1458	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|P	0.89917|0.35793	1.0;1.0;0.974;0.998;1.0|0.521	D;D;P;D;D|B	0.68483|0.31337	0.958;0.957;0.731;0.938;0.958|0.128	T|T	0.55798|0.55798	-0.8084|-0.8084	10|9	0.46703|0.87932	T|D	0.11|0	.|.	16.3315|16.3315	0.83023|0.83023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	379;422;292;353;393|247	P34998-4;P34998;B3TIK8;P34998-3;P34998-2|B4DMR5	.;CRFR1_HUMAN;.;.;.|.	H|M	218;422;393;379;353|247	ENSP00000293493:R218H;ENSP00000381333:R422H;ENSP00000326060:R393H;ENSP00000344068:R353H|ENSP00000340522:V247M	ENSP00000293493:R218H|ENSP00000340522:V247M	R|V	+|+	2|1	0|0	CRHR1|CRHR1	41267841|41267841	0.982000|0.982000	0.34865|0.34865	0.985000|0.985000	0.45067|0.45067	0.793000|0.793000	0.44817|0.44817	5.316000|5.316000	0.65815|0.65815	2.451000|2.451000	0.82905|0.82905	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.627	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			16	36	0	0	0	1	0	16	36					A	43912060	G	A	43912060	3	1	5	1	0	0	0	0	1	0	0	0	3871	1145	40	1	1319	1	CRHR1	17	43912060	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08	36159879	43912060	37283150	17	88										
TEX14	56155	broad.mit.edu	37	chr17	56699053	56699053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggacgggctgtagacaagcCgctgcggggagtctatcttc	15	10	2	1			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:56699053C>T	ENST00000240361.8	-	5	597	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q|TEX14_ENST00000389934.3_Missense_Mutation_p.R171Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	171					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAGACAAGCCGCTGCGGGGA	0.587																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(511-513)cGg>cAg		testis expressed 14							66	57	60					17																	56699053		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56699053C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.512G>A	17.37:g.56699053C>T	ENSP00000240361:p.Arg171Gln					TEX14_ENST00000240361.8_Missense_Mutation_p.R171Q|TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q	p.R171Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			5	629	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		171					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.512G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570992	0.28003	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80393	-1.36;-1.37;-1.3	5.42	4.46	0.54185	.	0.308600	0.27464	N	0.019246	T	0.66877	0.2834	L	0.32530	0.975	0.22050	N	0.999396	B;B;B	0.23316	0.05;0.083;0.083	B;B;B	0.16722	0.007;0.016;0.016	T	0.54662	-0.8260	10	0.35671	T	0.21	-9.0002	5.138	0.14945	0.1467:0.6316:0.1422:0.0796	.	171;171;171	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	171	ENSP00000240361:R171Q;ENSP00000374584:R171Q;ENSP00000268910:R171Q	ENSP00000240361:R171Q	R	-	2	0	TEX14	54054052	0.662000	0.27439	0.998000	0.56505	0.155000	0.21991	0.185000	0.16958	1.426000	0.47256	-0.244000	0.11960	CGG		0.587	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			12	28	0	0	0	1	0	12	28					T	56699053	C	T	56699053	3	4	5	1	0	0	0	0	1	0	0	0	15775	652	23	2	4079	2	TEX14	17	56699053	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08	12786993	56699053	24496157	18	89										
TSHZ1	10194	broad.mit.edu	37	chr18	72998961	72998961	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgagcccagcaccctgtaCccgtacctgcgtgaggagga	12	13	0	2			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr18:72998961C>G	ENST00000580243.1	+	2	1947	c.1599C>G	c.(1597-1599)taC>taG	p.Y533*	TSHZ1_ENST00000322038.5_Nonsense_Mutation_p.Y488*			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	533					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCACCCTGTACCCGTACCTGC	0.587																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1462-1464)taC>taG		teashirt zinc finger homeobox 1							113	115	114					18																	72998961		2203	4300	6503	SO:0001587	stop_gained	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998961C>G	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1599C>G	18.37:g.72998961C>G	ENSP00000464391:p.Tyr533*					TSHZ1_ENST00000580243.1_Nonsense_Mutation_p.Y533*	p.Y488*	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2048	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	533					O60534|Q4LE29|Q53EU4	Nonsense_Mutation	SNP	ENST00000580243.1	37	c.1464C>G		.	.	.	.	.	.	.	.	.	.	C	35	5.476451	0.96291	.	.	ENSG00000179981	ENST00000322038	.	.	.	5.59	0.474	0.16768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.029	8.604	0.33762	0.0:0.3796:0.0:0.6204	.	.	.	.	X	488	.	ENSP00000323584:Y488X	Y	+	3	2	TSHZ1	71127949	1.000000	0.71417	0.992000	0.48379	0.276000	0.26787	1.200000	0.32247	2.625000	0.88918	0.561000	0.74099	TAC		0.587	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		29	54	0	0	0	1	0	29	54					G	72998961	C	G	72998961	4	3	5	1	0	0	0	0	0	1	0	0	16620	518	18	5	1466	5	TSHZ1	18	72998961	Nonsense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		72998961	5078287	19	90										
PSG2	5670	broad.mit.edu	37	chr19	43575927	43575927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacagagcaaacatagagccCgctatgctttgtagtaattt	8	8	0	2			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr19:43575927C>T	ENST00000406487.1	-	4	987	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	297	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACATAGAGCCCGCTATGCTTT	0.468																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(889-891)Ggg>Agg		pregnancy specific beta-1-glycoprotein 2							177	183	181					19																	43575927		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575927C>T		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.889G>A	19.37:g.43575927C>T	ENSP00000385706:p.Gly297Arg						p.G297R	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			4	987	-		Prostate(69;0.00682)	297			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.889G>A	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.661625	0.29515	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	D	0.83992	-1.79	1.26	1.26	0.21427	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93828	0.8026	H	0.99444	4.57	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.99	T	0.83206	-0.0076	9	0.87932	D	0	.	5.8601	0.18743	0.0:1.0:0.0:0.0	.	297;297	B5MCM8;P11465	.;PSG2_HUMAN	R	297	ENSP00000385706:G297R	ENSP00000332984:G297R	G	-	1	0	PSG2	48267767	0.019000	0.18553	0.002000	0.10522	0.001000	0.01503	2.022000	0.41030	0.659000	0.30945	0.398000	0.26397	GGG		0.468	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		4	203	0	0	0	1	0	4	203					T	43575927	C	T	43575927	3	4	5	1	0	0	0	0	1	0	0	0	12655	652	23	2	126	2	PSG2	19	43575927	Missense_Mutation	SNP	C	TCGA-P8-A6RX-01A-11D-A35D-08		43575927	15553056	20	91										
TPX2	22974	broad.mit.edu	37	chr20	30366768	30366768	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctaacagatatcatttgagGagcaagaaggatgatattag	10	5	1	4			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr20:30366768G>T	ENST00000300403.6	+	10	1563	c.1035G>T	c.(1033-1035)agG>agT	p.R345S	TPX2_ENST00000340513.4_Missense_Mutation_p.R345S	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	345					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCATTTGAGGAGCAAGAAGG	0.398																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1033-1035)agG>agT		TPX2, microtubule-associated							94	88	90					20																	30366768		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30366768G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1035G>T	20.37:g.30366768G>T	ENSP00000300403:p.Arg345Ser					TPX2_ENST00000300403.6_Missense_Mutation_p.R345S	p.R345S			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		10	1563	+			345					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1035G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458407	0.63401	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.42900	0.96	4.93	3.98	0.46160	.	0.051609	0.85682	D	0.000000	T	0.60405	0.2266	M	0.72894	2.215	0.52501	D	0.999958	D;P	0.76494	0.999;0.911	D;B	0.78314	0.991;0.219	T	0.63567	-0.6608	10	0.66056	D	0.02	-18.8146	10.7304	0.46093	0.089:0.0:0.911:0.0	.	345;345	Q96RR5;Q9ULW0	.;TPX2_HUMAN	S	345	ENSP00000341145:R345S	ENSP00000300403:R345S	R	+	3	2	TPX2	29830429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.821000	0.27338	1.440000	0.47531	-0.140000	0.14226	AGG		0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			9	56	1	0	0.335167	1	0.335167	9	56					T	30366768	G	T	30366768	3	4	5	1	0	0	0	0	1	0	0	0	16429	1165	41	5	1065	5	TPX2	20	30366768	Missense_Mutation	SNP	G	TCGA-P8-A6RX-01A-11D-A35D-08		30366768	32658752	21	92										
OGT	8473	broad.mit.edu	37	chrX	70767856	70767856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggggaaatttggcttgcaAttcatcactttgaaaaggtt	10	5	2	1			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chrX:70767856A>G	ENST00000373719.3	+	5	848	c.631A>G	c.(631-633)Att>Gtt	p.I211V	OGT_ENST00000373701.3_Missense_Mutation_p.I201V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	211					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTGGCTTGCAATTCATCACTT	0.353																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(631-633)Att>Gtt		O-linked N-acetylglucosamine (GlcNAc) transferase							124	114	118					X																	70767856		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70767856A>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.631A>G	X.37:g.70767856A>G	ENSP00000362824:p.Ile211Val					OGT_ENST00000373701.3_Missense_Mutation_p.I201V	p.I211V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			5	848	+	Renal(35;0.156)		211					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.631A>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	a	14.06	2.424036	0.43020	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.61742	0.08;0.08	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.31371	0.925	0.80722	D	1	B;B;P	0.43231	0.085;0.218;0.801	B;B;P	0.54270	0.069;0.114;0.747	T	0.56992	-0.7887	10	0.32370	T	0.25	-32.3583	13.9865	0.64339	1.0:0.0:0.0:0.0	.	85;201;211	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	V	211;201	ENSP00000362824:I211V;ENSP00000362805:I201V	ENSP00000362805:I201V	I	+	1	0	OGT	70684581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	1.878000	0.54408	0.478000	0.44815	ATT		0.353	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		47	17	0	0	0	1	0	47	17					G	70767856	A	G	70767856	3	3	5	1	0	0	0	0	1	0	0	0	10847	101	4	4	649	4	OGT	23	70767856	Missense_Mutation	SNP	A	TCGA-P8-A6RX-01A-11D-A35D-08		70767856	84502704	22	93										
AMMECR1	9949	broad.mit.edu	37	chrX	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-													0	0	1	0	0	0	1	1	0	tggctctctccgctgcagtgGgaggaggaggaggcgccacc							TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)tccdel	p.S31del	AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000496695.1_5'Flank|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.68																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(91-93)del		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	2,55,3416		0,0,1,1,5,34,11,1461,459					,,	4.6	1			8	1,159,5901		0,0,1,0,5,91,58,2161,1487	no	codingComplex,intron,codingComplex	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	0,0,2,1,10,125,69,3622,1946	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.6398,1.6412,2.2761	,,	,,		3,214,9317				SO:0001651	inframe_deletion	9949							g.chrX:109561207_109561209delGGA	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.91_93delTCC	X.37:g.109561216_109561218delGGA	ENSP00000262844:p.Ser31del					AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	258_260	-			31			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.91_93delTCC	CCDS14551.1																																																																																				0.68	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			3	3						3	3	---	---	---	---	-	109561209	GGA	-	109561207	7	5	5	1	0	1	0	1	0	0	0	0	578	1219	43	0	932	0	AMMECR1	23	109561207	In_Frame_Del	DEL	GGA	TCGA-P8-A6RX-01A-11D-A35D-08	38793351	109561207	45709353	23	94										
OR6K3	391114	broad.mit.edu	37	chr1	158687537	158687537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agagggttgcagatggcaacGtatctgtcaatggccatggt	14	7	2	2	rs376702655		TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr1:158687537G>A	ENST00000368146.1	-	1	416	c.417C>T	c.(415-417)taC>taT	p.Y139Y	OR6K3_ENST00000368145.1_Silent_p.Y123Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGATGGCAACGTATCTGTCAA	0.507																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(415-417)taC>taT		olfactory receptor, family 6, subfamily K, member 3		G		0,4406		0,0,2203	113	119	117		369	-2.9	0	1		117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR6K3	NM_001005327.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		123/316	158687537	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687537G>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.417C>T	1.37:g.158687537G>A						OR6K3_ENST00000368145.1_Silent_p.Y123Y	p.Y139Y			Q8NGY3	OR6K3_HUMAN			1	416	-	all_hematologic(112;0.0378)		139					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.417C>T																																																																																					0.507	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				4	81	0	0	0	1	0	4	81					A	158687537	G	A	158687537	2	1	6	1	0	0	0	0	0	0	0	1	11203	1140	40	1		1	OR6K3	1	158687537	Silent	SNP	G	TCGA-P8-A6RY-01A-12D-A35D-08		158687537	90563084	1	95										
C9orf128	392307	broad.mit.edu	37	chr9	35819971	35819971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaaacagtcccataggtaatGggggcagcgccagccaatgt	13	10	0	0			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr9:35819971G>T	ENST00000423537.2	-	4	1038	c.769C>A	c.(769-771)Cat>Aat	p.H257N	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	257										endometrium(2)|kidney(1)|lung(4)	7						CATAGGTAATGGGGGCAGCGC	0.483																																						ENST00000423537.2																			0				endometrium(2)|kidney(1)|lung(4)	7						c.(769-771)Cat>Aat		family with sequence similarity 221, member B							59	60	60					9																	35819971		1895	4120	6015	SO:0001583	missense	392307							g.chr9:35819971G>T	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 128"	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.769C>A	9.37:g.35819971G>T	ENSP00000415299:p.His257Asn					TMEM8B_ENST00000377996.1_Intron	p.H257N	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN			4	1038	-			257					Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	c.769C>A	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517348	0.64634	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.15952	2.38;2.38	5.46	5.46	0.80206	.	.	.	.	.	T	0.23410	0.0566	M	0.62723	1.935	0.27859	N	0.940476	P	0.48694	0.914	B	0.42692	0.395	T	0.11591	-1.0581	9	0.42905	T	0.14	-7.2817	14.8065	0.69959	0.0:0.0:1.0:0.0	.	257	A6H8Z2	CI128_HUMAN	N	257	ENSP00000415299:H257N;ENSP00000367222:H257N	ENSP00000367222:H257N	H	-	1	0	C9orf128	35809971	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.964000	0.56780	2.552000	0.86080	0.655000	0.94253	CAT		0.483	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		5	72	1	0	8.12818e-05	1	8.12818e-05	5	72					T	35819971	G	T	35819971	3	4	6	1	0	0	0	0	1	0	0	0	2455	1348	47	5	455	5	C9orf128	9	35819971	Missense_Mutation	SNP	G	TCGA-P8-A6RY-01A-12D-A35D-08		35819971	105393460	2	96										
ARHGAP22	58504	broad.mit.edu	37	chr10	49667823	49667823	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggaacagcccctcctcagtgAgcccgcgctcccggatgaag	12	16	1	2			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr10:49667823A>T	ENST00000249601.4	-	5	859	c.563T>A	c.(562-564)cTc>cAc	p.L188H	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.L204H|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.L194H|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.L98H|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.L98H|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.L79H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	188	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCTCAGTGAGCCCGCGCTC	0.642																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(562-564)cTc>cAc		Rho GTPase activating protein 22							108	100	102					10																	49667823		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49667823A>T	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.563T>A	10.37:g.49667823A>T	ENSP00000249601:p.Leu188His					ARHGAP22_ENST00000374170.1_Missense_Mutation_p.L98H|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.L204H|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.L98H|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.L79H|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.L194H	p.L188H	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			5	859	-			188			Rho-GAP.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.563T>A	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322550	0.81580	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	4.9	4.9	0.64082	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.074399	0.56097	D	0.000031	T	0.67534	0.2903	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.999;1.0;0.995	T	0.78892	-0.2025	10	0.87932	D	0	.	13.8597	0.63552	1.0:0.0:0.0:0.0	.	194;188;204;188;98	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3	.;.;.;RHG22_HUMAN;.	H	188;79;98;98;194;204	ENSP00000249601:L188H;ENSP00000363287:L79H;ENSP00000363285:L98H;ENSP00000410054:L98H;ENSP00000416701:L194H;ENSP00000412461:L204H	ENSP00000249601:L188H	L	-	2	0	ARHGAP22	49337829	1.000000	0.71417	0.944000	0.38274	0.667000	0.39255	9.033000	0.93741	2.074000	0.62210	0.260000	0.18958	CTC		0.642	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		52	69	0	0	0	1	0	52	69					T	49667823	A	T	49667823	3	4	6	1	0	0	0	0	1	0	0	0	872	304	11	5	1557	5	ARHGAP22	10	49667823	Missense_Mutation	SNP	A	TCGA-P8-A6RY-01A-12D-A35D-08		49667823	85866924	3	97										
SEMA4G	57715	broad.mit.edu	37	chr10	102743064	102743066	+	In_Frame_Del	DEL	CCA	CCA	-													0	0	1	0	NA	0	1	1	0	ctcccccaaaccccacagggCcaccaccaccactgaagacc							TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr10:102743064_102743066delCCA	ENST00000370250.4	+	14	2066_2068	c.1693_1695delCCA	c.(1693-1695)ccadel	p.P568del	MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000342071.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000210633.3_In_Frame_Del_p.P573del	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	568	Ig-like C2-type.|Poly-Pro.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCACAGGGCCACCACCACCAC	0.616																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1708-1710)del		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G			,,,,	20,0,4218		0,0,20,0,0,2099					,,,,	2.9	1		dbSNP_134	28	58,3,8161		1,0,56,0,3,4051	no	intron,intron,intron,codingComplex,intron	SEMA4G,MRPL43	NM_176794.1,NM_176793.1,NM_176792.2,NM_017893.3,NM_001203244.1	,,,,	1,0,76,0,3,6150	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7419,0.4719,0.6501	,,,,	,,,,		78,3,12379				SO:0001651	inframe_deletion	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743064_102743066delCCA	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1693_1695delCCA	10.37:g.102743073_102743075delCCA	ENSP00000359270:p.Pro568del					MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del	p.P573del			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	1786_1788	+		Colorectal(252;0.234)	568			Ig-like C2-type.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	In_Frame_Del	DEL	ENST00000370250.4	37	c.1708_1710delCCA																																																																																					0.616	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			2	4						2	4	---	---	---	---	-	102743066	CCA	-	102743064	7	5	6	1	0	1	0	1	0	0	0	0	14036	739	26	0	1762	0	SEMA4G	10	102743064	In_Frame_Del	DEL	CCA	TCGA-P8-A6RY-01A-12D-A35D-08	53075241	102743064	32791683	4	98										
HMGA2	8091	broad.mit.edu	37	chr12	66221789	66221789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctcacaattaggaaccaacCggtgagccctctcctaagag	8	14	2	2	rs552619480		TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr12:66221789C>T	ENST00000403681.2	+	2	1260	c.120C>T	c.(118-120)acC>acT	p.T40T	RPSAP52_ENST00000489520.2_RNA|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000541363.1_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"																																	ENST00000541363.1				Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"		"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	0				lung(2)	2						c.(118-120)acC>acT		high mobility group AT-hook 2							79	86	83					12																	66221789		2203	4300	6503	SO:0001819	synonymous_variant	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66221789C>T	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"High-mobility group / Canonical"	5009	protein-coding gene	gene with protein product		600698	"high-mobility group (nonhistone chromosomal) protein isoform I-C"	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.120C>T	12.37:g.66221789C>T						HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T	p.T40T			P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	2	493	+	all_cancers(1;5.78e-46)		40					E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Silent	SNP	ENST00000403681.2	37	c.120C>T	CCDS44936.1																																																																																				0.448	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483		18	24	0	0	0	1	0	18	24					T	66221789	C	T	66221789	2	4	6	1	0	0	0	0	0	0	0	1	7224	639	23	2		2	HMGA2	12	66221789	Silent	SNP	C	TCGA-P8-A6RY-01A-12D-A35D-08		66221789	67630106	5	99										
ELANE	1991	broad.mit.edu	37	chr19	853364	853364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgcatcttcgaaaacggctaCgaccccgtaaacttgctcaa	7	14	2	0			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr19:853364C>T	ENST00000590230.1	+	4	468	c.327C>T	c.(325-327)taC>taT	p.Y109Y	ELANE_ENST00000263621.1_Silent_p.Y109Y			P08246	ELNE_HUMAN	elastase, neutrophil expressed	109	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AAAACGGCTACGACCCCGTAA	0.706																																						ENST00000590230.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13						c.(325-327)taC>taT		elastase, neutrophil expressed	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						24	23	23					19																	853364		2184	4277	6461	SO:0001819	synonymous_variant	1991				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:853364C>T		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"neutrophil elastase", "leukocyte elastase", "medullasin"	130130	"elastase 2, neutrophil"	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.327C>T	19.37:g.853364C>T						ELANE_ENST00000263621.1_Silent_p.Y109Y	p.Y109Y			P08246	ELNE_HUMAN			4	468	+			109			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.327C>T	CCDS12045.1																																																																																				0.706	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		8	14	0	0	0	1	0	8	14					T	853364	C	T	853364	2	4	6	1	0	0	0	0	0	0	0	1	5048	547	19	1		1	ELANE	19	853364	Silent	SNP	C	TCGA-P8-A6RY-01A-12D-A35D-08		853364	58275619	6	100										
LONP1	25873	broad.mit.edu	37	chr19	5692054	5692054	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggtggccgtcaccgttccaCggccagcgcctctgcctgct	13	17	2	0			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr19:5692054C>A	ENST00000577222.1	+	0	874				LONP1_ENST00000540670.2_Missense_Mutation_p.V761L|LONP1_ENST00000590729.1_Missense_Mutation_p.V827L|LONP1_ENST00000360614.3_Missense_Mutation_p.V957L|LONP1_ENST00000585374.1_Missense_Mutation_p.V843L|LONP1_ENST00000593119.1_Missense_Mutation_p.V893L			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CACCGTTCCACGGCCAGCGCC	0.687																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Gtg>Ttg		lon peptidase 1, mitochondrial							74	65	68					19																	5692054		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5692054C>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5692054C>A						LONP1_ENST00000590729.1_Missense_Mutation_p.V827L|LONP1_ENST00000593119.1_Missense_Mutation_p.V893L|LONP1_ENST00000540670.2_Missense_Mutation_p.V761L|LONP1_ENST00000585374.1_Missense_Mutation_p.V843L	p.V957L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			18	3026	-			957					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.2869G>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.913110	0.33815	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.21932	2.28;1.98	3.9	3.9	0.45041	.	0.471044	0.18565	N	0.137488	T	0.17066	0.0410	L	0.36672	1.1	0.29103	N	0.881388	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.05920	-1.0856	10	0.40728	T	0.16	-32.6668	11.322	0.49428	0.0:1.0:0.0:0.0	.	957;893;957	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	L	957;921;761	ENSP00000353826:V957L;ENSP00000441523:V761L	ENSP00000351177:V921L	V	-	1	0	LONP1	5643054	0.015000	0.18098	0.867000	0.34043	0.286000	0.27126	0.089000	0.15002	1.999000	0.58509	0.456000	0.33151	GTG		0.687	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		29	34	1	0	2.49675e-24	1	2.74642e-24	29	34					A	5692054	C	A	5692054	1	1	6	0	1	0	0	0	0	0	0	0	8892	536	19	5		5	LONP1	19	5692054	IGR	SNP	C	TCGA-P8-A6RY-01A-12D-A35D-08	4838690	5692054	53436929	7	101										
OPA3	7408	broad.mit.edu	37	chr19	46032458	46032458	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	acctgcgcctgcaactcctcGagcgccagccccaagtggcc	10	19	0	0			TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chr19:46032458G>A	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Silent_p.L133L	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GCAACTCCTCGAGCGCCAGCC	0.697																																						ENST00000323060.3																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(397-399)ctC>ctT		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							18	19	19					19																	46032458		2194	4285	6479	SO:0001628	intergenic_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46032458G>A		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032458G>A							p.L133L	NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	476	-		Ovarian(192;0.051)|all_neural(266;0.112)	133					B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	c.399C>T	CCDS33051.1																																																																																				0.697	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			13	13	0	0	0	1	0	13	13					A	46032458	G	A	46032458	1	1	6	0	1	0	0	0	0	0	0	0	10872	1045	37	2		2	OPA3	19	46032458	IGR	SNP	G	TCGA-P8-A6RY-01A-12D-A35D-08	40340404	46032458	13096525	8	102										
PLXNB3	5365	broad.mit.edu	37	chrX	153044463	153044463	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	ccgcctgcagcaggtcgccgCcctggtggaaaacaaagtga							TCGA-P8-A6RY-01A-12D-A35D-08	TCGA-P8-A6RY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c49fd1-9ada-4ac7-963a-dc4bd8ccdf92	9019f5a7-57eb-44da-9368-4099e7314b2b	g.chrX:153044463delC	ENST00000361971.5	+	36	5813	c.5699delC	c.(5698-5700)gccfs	p.A1900fs	PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.A1553fs|SRPK3_ENST00000393786.3_5'Flank|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538966.1_Frame_Shift_Del_p.A1923fs|SRPK3_ENST00000370104.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1900					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTCGCCGCCCTGGTGGAA	0.647																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(5767-5769)gcfs		plexin B3							19	18	18					X																	153044463		2197	4289	6486	SO:0001589	frameshift_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153044463delC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5699delC	X.37:g.153044463delC	ENSP00000355378:p.Ala1900fs					PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.A1900fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.A1553fs|SRPK3_ENST00000489426.1_5'UTR	p.A1923fs	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			37	6039	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1900					B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Del	DEL	ENST00000361971.5	37	c.5768delC	CCDS14729.1																																																																																				0.647	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			2	4						2	4	---	---	---	---	-	153044463	C	-	153044463	7	5	6	1	0	1	0	1	0	0	0	0	12125	739	26	0	5955	0	PLXNB3	23	153044463	Frame_Shift_Del	DEL	C	TCGA-P8-A6RY-01A-12D-A35D-08		153044463	2226097	9	103										
AGRN	375790	broad.mit.edu	37	chr1	980571	980571	+	Frame_Shift_Del	DEL	C	C	-													0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	cgccccgctgccgcctgtggCccccttacactgtgcccaga							TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr1:980571delC	ENST00000379370.2	+	13	2335	c.2285delC	c.(2284-2286)gccfs	p.A762fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	762					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCCTGTGGCCCCCTTACAC	0.672																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2284-2286)gcfs		agrin							27	28	28					1																	980571		2203	4297	6500	SO:0001589	frameshift_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:980571delC	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2285delC	1.37:g.980571delC	ENSP00000368678:p.Ala762fs						p.A762fs	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	13	2335	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	762					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	c.2285delC	CCDS30551.1																																																																																				0.672	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		2	4						2	4	---	---	---	---	-	980571	C	-	980571	7	5	7	1	0	1	0	1	0	0	0	0	397	739	26	0	2335	0	AGRN	1	980571	Frame_Shift_Del	DEL	C	TCGA-PR-A5PF-01A-11D-A35D-08		980571	248270050	1	104										
INSRR	3645	broad.mit.edu	37	chr1	156816315	156816315	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ccctccaaatgcctacctgcAggcagcgttcggaggtagac	11	14	0	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr1:156816315A>T	ENST00000368195.3	-	8	2202	c.1806T>A	c.(1804-1806)ccT>ccA	p.P602P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	602	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTACCTGCAGGCAGCGTTC	0.582																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1804-1806)ccT>ccA		insulin receptor-related receptor							87	64	72					1																	156816315		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156816315A>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1806T>A	1.37:g.156816315A>T						NTRK1_ENST00000392302.2_Intron	p.P602P	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			8	2202	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		602					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1806T>A	CCDS1160.1																																																																																				0.582	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	4	0	0	0	1	0	6	4					T	156816315	A	T	156816315	2	4	7	1	0	0	0	0	0	0	0	1	7774	175	7	5		5	INSRR	1	156816315	Silent	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	155835744	156816315	92434306	2	105										
FAM49A	81553	broad.mit.edu	37	chr2	16734239	16734239	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tcgaatctgtttggaagttgAttcatcgttcaagtgctttg	10	6	3	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr2:16734239A>G	ENST00000381323.3	-	12	1157	c.937T>C	c.(937-939)Tca>Cca	p.S313P	FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P|FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	313						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTGGAAGTTGATTCATCGTTC	0.418																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(937-939)Tca>Cca		family with sequence similarity 49, member A							226	198	208					2																	16734239		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16734239A>G	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.937T>C	2.37:g.16734239A>G	ENSP00000370724:p.Ser313Pro					FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P|FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P	p.S313P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		12	1157	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		313					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.937T>C	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544072	0.86022	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.46819	0.86;0.86;0.86	5.66	4.48	0.54585	.	0.052589	0.85682	D	0.000000	T	0.65780	0.2724	M	0.77103	2.36	0.80722	D	1	P	0.50943	0.94	D	0.63192	0.912	T	0.68689	-0.5342	10	0.72032	D	0.01	-6.0669	11.4965	0.50410	0.8655:0.0:0.0:0.1345	.	313	Q9H0Q0	FA49A_HUMAN	P	313	ENSP00000370724:S313P;ENSP00000384771:S313P;ENSP00000347744:S313P	ENSP00000347744:S313P	S	-	1	0	FAM49A	16597720	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	3.343000	0.52167	1.049000	0.40321	0.533000	0.62120	TCA		0.418	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		31	34	0	0	0	1	0	31	34					G	16734239	A	G	16734239	3	3	7	1	0	0	0	0	1	0	0	0	5575	333	12	4	38	4	FAM49A	2	16734239	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		16734239	226465134	3	106										
STON1	11037	broad.mit.edu	37	chr2	48809015	48809015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	agaactacgaggagcaagaaAtttccttggaaattgtggac	11	6	0	2			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr2:48809015A>G	ENST00000406226.1	+	3	1438	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V|STON1_ENST00000309835.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	415	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGCAAGAAATTTCCTTGGA	0.393																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1243-1245)Att>Gtt		stonin 1							71	74	73					2																	48809015		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809015A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1243A>G	2.37:g.48809015A>G	ENSP00000384615:p.Ile415Val					STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V|STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V|STON1_ENST00000406226.1_Missense_Mutation_p.I415V	p.I415V					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1253	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1243A>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	4.491	0.091034	0.08632	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.54	0.0225	0.14133	Clathrin adaptor, mu subunit, C-terminal (3);	0.327469	0.36932	N	0.002340	T	0.09024	0.0223	N	0.20530	0.585	0.22500	N	0.999045	B;B;B	0.25312	0.008;0.004;0.123	B;B;B	0.27887	0.032;0.007;0.084	T	0.39143	-0.9628	10	0.15499	T	0.54	.	8.875	0.35340	0.5776:0.3588:0.0636:0.0	.	415;415;415	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	V	415	ENSP00000385273:I415V;ENSP00000384615:I415V;ENSP00000310969:I415V;ENSP00000385499:I415V;ENSP00000385701:I415V;ENSP00000378236:I415V;ENSP00000311493:I415V;ENSP00000378234:I415V	ENSP00000310969:I415V	I	+	1	0	STON1-GTF2A1L;STON1	48662519	1.000000	0.71417	0.030000	0.17652	0.875000	0.50365	1.823000	0.39062	-0.112000	0.11979	0.533000	0.62120	ATT		0.393	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		30	43	0	0	0	1	0	30	43					G	48809015	A	G	48809015	3	3	7	1	0	0	0	0	1	0	0	0	15315	101	4	4	1245	4	STON1	2	48809015	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	32074776	48809015	194390358	4	107										
SCN5A	6331	broad.mit.edu	37	chr3	38655531	38655531	+	Intron	DEL	C	C	-													0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ttcgaagagccgacaaattgCctagttttatattttctgat							TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:38655531delC	ENST00000333535.4	-	6	761				SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000449557.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGACAAATTGCCTAGTTTTAT	0.463																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(637-639)gcfs		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						48	46	47					3																	38655531		1883	4109	5992	SO:0001627	intron_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38655531delC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.612-206G>-	3.37:g.38655531delC						SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G213fs	p.G213fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	6	831	-	Medulloblastoma(35;0.163)		213					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.638delG	CCDS46796.1																																																																																				0.463	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		2	4						2	4	---	---	---	---	-	38655531	C	-	38655531	6	5	7	0	1	1	0	1	0	0	0	0	13922	739	26	0		0	SCN5A	3	38655531	Intron	DEL	C	TCGA-PR-A5PF-01A-11D-A35D-08		38655531	159366899	5	108										
ZBTB47	92999	broad.mit.edu	37	chr3	42703080	42703080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	gttctcatgcgagatctgtgAgaagaagttctacaccatgg	11	8	3	3			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:42703080A>G	ENST00000232974.6	+	3	1858	c.1577A>G	c.(1576-1578)gAg>gGg	p.E526G	ZBTB47_ENST00000457842.3_Missense_Mutation_p.E150G|ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GAGATCTGTGAGAAGAAGTTC	0.517																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(448-450)gAg>gGg		zinc finger and BTB domain containing 47							71	70	70					3																	42703080		2002	4191	6193	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703080A>G	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1577A>G	3.37:g.42703080A>G	ENSP00000232974:p.Glu526Gly					ZBTB47_ENST00000232974.6_Missense_Mutation_p.E526G|ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G	p.E150G	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	3	1858	+			150					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.449A>G	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339701	0.41398	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.08008	3.14;3.14;3.14	4.84	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.02193	0.0068	N	0.00864	-1.135	0.53005	D	0.999962	B	0.21071	0.051	B	0.21360	0.034	T	0.40590	-0.9555	10	0.02654	T	1	-38.2771	10.2645	0.43447	0.9213:0.0:0.0787:0.0	.	150	Q9UFB7	ZBT47_HUMAN	G	526;425;150;72	ENSP00000232974:E526G;ENSP00000411491:E150G;ENSP00000420968:E72G	ENSP00000232974:E526G	E	+	2	0	ZBTB47	42678084	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.501000	0.81600	0.701000	0.31803	0.459000	0.35465	GAG		0.517	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		3	31	0	0	0	1	0	3	31					G	42703080	A	G	42703080	3	3	7	1	0	0	0	0	1	0	0	0	17545	304	11	4	1583	4	ZBTB47	3	42703080	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08	4047549	42703080	155319350	6	109										
ZNF80	7634	broad.mit.edu	37	chr3	113955352	113955352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	gtcttcccgcactcactgcaCttgcagggcttctctccagt	8	16	3	0			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:113955352C>T	ENST00000482457.2	-	1	1073	c.570G>A	c.(568-570)aaG>aaA	p.K190K	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCACTGCACTTGCAGGGCT	0.478																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(568-570)aaG>aaA		zinc finger protein 80							115	120	118					3																	113955352		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955352C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.570G>A	3.37:g.113955352C>T							p.K190K	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	1073	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	190					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.570G>A	CCDS2979.1																																																																																				0.478	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		47	75	0	0	0	1	0	47	75					T	113955352	C	T	113955352	2	4	7	1	0	0	0	0	0	0	0	1	18165	564	20	3		3	ZNF80	3	113955352	Silent	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08	71252272	113955352	84067078	7	110										
BDH1	622	broad.mit.edu	37	chr3	197273266	197273266	+	Frame_Shift_Del	DEL	T	T	-													0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tctatcacaggcacttagggTttttcctgggagccgtgaca							TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:197273266delT	ENST00000392378.2	-	2	359	c.49delA	c.(49-51)accfs	p.T17fs	BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000392379.1_Frame_Shift_Del_p.T17fs|BDH1_ENST00000441275.1_Intron	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	17					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GCACTTAGGGTTTTTCCTGGG	0.552																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(49-51)ccfs		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						109	111	110					3																	197273266		2203	4300	6503	SO:0001589	frameshift_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197273266delT	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.49delA	3.37:g.197273266delT	ENSP00000376183:p.Thr17fs					BDH1_ENST00000392378.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000441275.1_Intron|BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs	p.T17fs	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	3	450	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	17					D3DXC0|Q96ET1|Q9BRZ4	Frame_Shift_Del	DEL	ENST00000392378.2	37	c.49delA	CCDS3328.1																																																																																				0.552	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		33	50						33	50	---	---	---	---	-	197273266	T	-	197273266	7	5	7	1	0	1	0	1	0	0	0	0	1390	1725	60	0	1006	0	BDH1	3	197273266	Frame_Shift_Del	DEL	T	TCGA-PR-A5PF-01A-11D-A35D-08	83317914	197273266	749164	8	111										
RUFY3	22902	broad.mit.edu	37	chr4	71634293	71634293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tgccctcatgatggaagaagAaggagccataattgctggtc	12	8	1	3			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr4:71634293A>G	ENST00000226328.4	+	5	1174	c.611A>G	c.(610-612)gAa>gGa	p.E204G	RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000381006.3_Missense_Mutation_p.E204G|RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	204	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATGGAAGAAGAAGGAGCCATA	0.413																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(610-612)gAa>gGa		RUN and FYVE domain containing 3							187	178	181					4																	71634293		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634293A>G	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.611A>G	4.37:g.71634293A>G	ENSP00000226328:p.Glu204Gly					RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000381006.3_Missense_Mutation_p.E204G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G|RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G	p.E204G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		5	1174	+		all_hematologic(202;0.248)	204			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.611A>G	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	A	31	5.060374	0.93846	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.29	5.29	0.74685	RUN (3);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;1.0	T	0.63382	-0.6650	10	0.87932	D	0	-22.2098	15.2276	0.73361	1.0:0.0:0.0:0.0	.	188;204;204;264	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	G	140;264;204;204;188;140;151	ENSP00000426734:E140G;ENSP00000399771:E264G;ENSP00000370394:E204G;ENSP00000226328:E204G;ENSP00000443652:E188G;ENSP00000425574:E140G;ENSP00000425400:E151G	ENSP00000226328:E204G	E	+	2	0	RUFY3	71853157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.142000	0.94618	2.007000	0.58848	0.455000	0.32223	GAA		0.413	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		51	67	0	0	0	1	0	51	67					G	71634293	A	G	71634293	3	3	7	1	0	0	0	0	1	0	0	0	13740	246	9	4	991	4	RUFY3	4	71634293	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		71634293	119519983	9	112										
AGXT2	64902	broad.mit.edu	37	chr5	35039553	35039553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	caggggtttctggaaatatgCcgtcaccacaggagaaagat	12	8	2	2			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr5:35039553C>T	ENST00000231420.6	-	3	438	c.238G>A	c.(238-240)Gca>Aca	p.A80T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	80					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGGAAATATGCCGTCACCACA	0.473																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(238-240)Gca>Aca		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						83	87	86					5																	35039553		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039553C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.238G>A	5.37:g.35039553C>T	ENSP00000231420:p.Ala80Thr						p.A80T	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	438	-	all_lung(31;4.52e-05)		80					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.238G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386409	0.25031	.	.	ENSG00000113492	ENST00000231420	T	0.18960	2.18	5.45	2.29	0.28610	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.148518	0.64402	N	0.000015	T	0.12263	0.0298	L	0.33339	1.005	0.19300	N	0.99998	B;B	0.14805	0.011;0.003	B;B	0.15484	0.013;0.003	T	0.26815	-1.0092	10	0.17832	T	0.49	-8.2545	5.2577	0.15555	0.0:0.4016:0.0:0.5984	.	80;80	E9PDL7;Q9BYV1	.;AGT2_HUMAN	T	80	ENSP00000231420:A80T	ENSP00000231420:A80T	A	-	1	0	AGXT2	35075310	0.996000	0.38824	0.014000	0.15608	0.149000	0.21700	2.919000	0.48836	0.677000	0.31305	0.655000	0.94253	GCA		0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		4	74	0	0	0	1	0	4	74					T	35039553	C	T	35039553	3	4	7	1	0	0	0	0	1	0	0	0	405	739	26	3	1354	3	AGXT2	5	35039553	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		35039553	145875707	10	113										
TNXB	7148	broad.mit.edu	37	chr6	32053641	32053641	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	aggcaccagagcctggcggaCgtcccctggcagcacttcct	12	16	0	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr6:32053641C>T	ENST00000375244.3	-	7	3235	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I			P22105	TENX_HUMAN	tenascin XB	1099	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTGGCGGACGTCCCCTGGC	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3034-3036)Gtc>Atc		tenascin XB							52	61	58					6																	32053641		1303	2564	3867	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053641C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3034G>A	6.37:g.32053641C>T	ENSP00000364393:p.Val1012Ile					TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I	p.V1012I			P22105	TENX_HUMAN			7	3235	-			1099			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3034G>A		.	.	.	.	.	.	.	.	.	.	c	9.863	1.196747	0.22037	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	3.93	-0.23	0.13090	.	1.869340	0.02844	N	0.128234	T	0.01092	0.0036	L	0.27053	0.805	0.09310	N	1	B	0.23316	0.083	B	0.17433	0.018	T	0.46303	-0.9201	10	0.41790	T	0.15	.	2.8668	0.05604	0.1985:0.4262:0.0:0.3753	.	1012	P22105-3	.	I	1012	ENSP00000364393:V1012I;ENSP00000364396:V1012I	ENSP00000364393:V1012I	V	-	1	0	TNXB	32161619	0.001000	0.12720	0.489000	0.27452	0.710000	0.40934	-0.126000	0.10563	-0.287000	0.09064	-0.349000	0.07799	GTC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		25	41	0	0	0	1	0	25	41					T	32053641	C	T	32053641	3	4	7	1	0	0	0	0	1	0	0	0	16343	536	19	1	11831	1	TNXB	6	32053641	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		32053641	139061426	11	114										
EYS	346007	broad.mit.edu	37	chr6	66204999	66204999	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tttcagaaacattcatcaaaTttatttctggaaattgaaga	5	5	4	3			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr6:66204999T>A	ENST00000370621.3	-	4	831	c.305A>T	c.(304-306)aAt>aTt	p.N102I	EYS_ENST00000370618.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I|EYS_ENST00000503581.1_Missense_Mutation_p.N102I|EYS_ENST00000393380.2_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	102					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCATCAAATTTATTTCTGG	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(304-306)aAt>aTt		eyes shut homolog (Drosophila)							69	71	70					6																	66204999		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204999T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.305A>T	6.37:g.66204999T>A	ENSP00000359655:p.Asn102Ile					EYS_ENST00000393380.2_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I|EYS_ENST00000370621.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I|EYS_ENST00000370618.3_Missense_Mutation_p.N102I	p.N102I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	842	-			102					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.305A>T		.	.	.	.	.	.	.	.	.	.	T	17.22	3.333226	0.60853	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90324	-1.66;-1.65;-1.65;-2.65;-2.61;-2.61	4.4	4.4	0.53042	.	.	.	.	.	D	0.86079	0.5847	N	0.19112	0.55	0.22171	N	0.999314	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.70935	0.962;0.971;0.936	T	0.79176	-0.1911	9	0.34782	T	0.22	.	11.3055	0.49332	0.0:0.0:0.0:1.0	.	102;102;102	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	102	ENSP00000424243:N102I;ENSP00000359655:N102I;ENSP00000359650:N102I;ENSP00000377042:N102I;ENSP00000341818:N102I;ENSP00000359652:N102I	ENSP00000341818:N102I	N	-	2	0	EYS	66261720	0.998000	0.40836	0.994000	0.49952	0.935000	0.57460	3.147000	0.50639	1.735000	0.51646	0.482000	0.46254	AAT		0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		8	51	0	0	0	1	0	8	51					A	66204999	T	A	66204999	3	1	7	1	0	0	0	0	1	0	0	0	5332	1493	52	5	9251	5	EYS	6	66204999	Missense_Mutation	SNP	T	TCGA-PR-A5PF-01A-11D-A35D-08	34151358	66204999	104910068	12	115										
AKAP9	10142	broad.mit.edu	37	chr7	91715671	91715671	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ttcggacggagctgacagctCtaggtactacagatgcagtt	12	9	1	2			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr7:91715671C>G	ENST00000359028.2	+	37	9391	c.9166C>G	c.(9166-9168)Cta>Gta	p.L3056V	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3052V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3056					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGACAGCTCTAGGTACTAC	0.388			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9166-9168)Cta>Gta		A kinase (PRKA) anchor protein 9							205	202	203					7																	91715671		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91715671C>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9166C>G	7.37:g.91715671C>G	ENSP00000351922:p.Leu3056Val					AKAP9_ENST00000356239.3_Missense_Mutation_p.L3052V|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V	p.L3056V			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		37	9391	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3056					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.9166C>G		.	.	.	.	.	.	.	.	.	.	C	13.75	2.330770	0.41297	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04119	3.8;3.79;3.87;3.7	4.89	4.0	0.46444	.	0.000000	0.31427	N	0.007675	T	0.11623	0.0283	M	0.77616	2.38	0.41032	D	0.985167	D;P;P;P;P	0.57571	0.98;0.944;0.908;0.944;0.944	P;P;B;P;P	0.52514	0.701;0.572;0.368;0.572;0.572	T	0.04454	-1.0950	10	0.33940	T	0.23	.	6.9819	0.24708	0.1274:0.676:0.1238:0.0727	.	3056;3056;3056;3052;3044	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	V	3052;3056;3002;3056;898	ENSP00000348573:L3052V;ENSP00000351922:L3056V;ENSP00000350813:L3002V;ENSP00000378042:L898V	ENSP00000348573:L3052V	L	+	1	2	AKAP9	91553607	0.994000	0.37717	0.996000	0.52242	0.971000	0.66376	0.818000	0.27295	1.390000	0.46547	0.585000	0.79938	CTA		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	195	0	0	0	1	0	8	195					G	91715671	C	G	91715671	3	3	7	1	0	0	0	0	1	0	0	0	459	912	32	5	9300	5	AKAP9	7	91715671	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		91715671	67422992	13	116										
ZFP41	286128	broad.mit.edu	37	chr8	144332586	144332586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tgtctcatccgccatcagaaAcgccaccctcggaagaagcc	8	16	2	2			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr8:144332586A>G	ENST00000330701.4	+	2	942	c.573A>G	c.(571-573)aaA>aaG	p.K191K	ZFP41_ENST00000520584.1_Silent_p.K191K|ZFP41_ENST00000522452.1_Silent_p.K191K	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	191					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCATCAGAAACGCCACCCTC	0.642																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(571-573)aaA>aaG		ZFP41 zinc finger protein							57	67	64					8																	144332586		2199	4298	6497	SO:0001819	synonymous_variant	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332586A>G		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.573A>G	8.37:g.144332586A>G						ZFP41_ENST00000522452.1_Silent_p.K191K|ZFP41_ENST00000520584.1_Silent_p.K191K	p.K191K	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	942	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		191					D3DWJ5	Silent	SNP	ENST00000330701.4	37	c.573A>G	CCDS6397.1																																																																																				0.642	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		12	75	0	0	0	1	0	12	75					G	144332586	A	G	144332586	2	3	7	1	0	0	0	0	0	0	0	1	17646	40	2	4		4	ZFP41	8	144332586	Silent	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		144332586	2031436	14	117										
NLRP6	171389	broad.mit.edu	37	chr11	284621	284621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tgcagtcctgcagcaccaggGatgcggcctgcagaccctca	12	15	1	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr11:284621G>A	ENST00000312165.5	+	7	2519	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.G839E	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	840					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCACCAGGGATGCGGCCTG	0.692																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2515-2517)gGa>gAa		NLR family, pyrin domain containing 6							21	18	19					11																	284621		2197	4278	6475	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:284621G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2519G>A	11.37:g.284621G>A	ENSP00000309767:p.Gly840Glu					NLRP6_ENST00000312165.5_Missense_Mutation_p.G840E	p.G839E	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	2721	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	840					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2516G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	3.434	-0.115554	0.06881	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.52057	0.68;0.68	3.21	-1.91	0.07641	.	.	.	.	.	T	0.26955	0.0660	L	0.34521	1.04	0.09310	N	1	B;B	0.34103	0.138;0.437	B;B	0.29862	0.065;0.108	T	0.24225	-1.0166	9	0.08837	T	0.75	.	7.268	0.26239	0.1109:0.4965:0.3926:0.0	.	839;840	E9PJZ8;P59044	.;NALP6_HUMAN	E	839;840	ENSP00000433617:G839E;ENSP00000309767:G840E	ENSP00000309767:G840E	G	+	2	0	NLRP6	274621	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-1.132000	0.03235	-0.498000	0.06632	-0.518000	0.04402	GGA		0.692	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		3	17	0	0	0	1	0	3	17					A	284621	G	A	284621	3	1	7	1	0	0	0	0	1	0	0	0	10481	1174	41	3	2545	3	NLRP6	11	284621	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		284621	134721895	15	118										
B4GALNT4	338707	broad.mit.edu	37	chr11	375706	375706	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ccagccagccacgtggggggGcgtccgccgcaggaggagac	18	14	0	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr11:375706G>C	ENST00000329962.6	+	10	918	c.918G>C	c.(916-918)ggG>ggC	p.G306G		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	306					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)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTGGGGGGGCGTCCGCCGC	0.677																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(916-918)ggG>ggC		beta-1,4-N-acetyl-galactosaminyl transferase 4							24	28	26					11																	375706		2176	4275	6451	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:375706G>C	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.918G>C	11.37:g.375706G>C							p.G306G	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	918	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	306					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.918G>C	CCDS7694.1																																																																																				0.677	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		6	27	0	0	0	1	0	6	27					C	375706	G	C	375706	2	2	7	1	0	0	0	0	0	0	0	1	1269	1190	42	5		5	B4GALNT4	11	375706	Silent	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	91085	375706	134630810	16	119										
KRT72	140807	broad.mit.edu	37	chr12	52981542	52981542	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ctccttggcctggtgcagggCgccctccagctcatccagct	11	17	1	0	rs145882334	byFrequency	TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr12:52981542C>T	ENST00000537672.2	-	7	1193	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	KRT72_ENST00000293745.2_Missense_Mutation_p.A395T|KRT72_ENST00000398066.3_Missense_Mutation_p.A207T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	395	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGCAGGGCGCCCTCCAGC	0.662																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1183-1185)Gcc>Acc		keratin 72		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80	74	76		1183,1057,1183	4	0.8	12	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	58,58,58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	395/512,353/470,395/512	52981542	3,13003	2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52981542C>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1183G>A	12.37:g.52981542C>T	ENSP00000441160:p.Ala395Thr					KRT72_ENST00000537672.2_Missense_Mutation_p.A395T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T|KRT72_ENST00000398066.3_Missense_Mutation_p.A207T	p.A395T	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	7	1268	-			395			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1183G>A	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038220	0.93630	2.27E-4	2.33E-4	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89343	-2.44;-2.44;-2.5;-2.44	4.92	4.03	0.46877	Filament (1);	0.122636	0.36167	N	0.002757	D	0.95796	0.8632	H	0.96518	3.835	0.41093	D	0.985613	D;D	0.76494	0.999;0.999	D;D	0.65684	0.937;0.937	D	0.97169	0.9843	10	0.87932	D	0	.	14.1097	0.65113	0.0:0.926:0.0:0.074	.	353;395	B4DEI8;Q14CN4	.;K2C72_HUMAN	T	395;395;353;207	ENSP00000441160:A395T;ENSP00000293745:A395T;ENSP00000346269:A353T;ENSP00000446151:A207T	ENSP00000293745:A395T	A	-	1	0	KRT72	51267809	1.000000	0.71417	0.790000	0.31976	0.992000	0.81027	4.890000	0.63178	1.383000	0.46405	0.650000	0.86243	GCC		0.662	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		37	50	0	0	0	1	0	37	50					T	52981542	C	T	52981542	3	4	7	1	0	0	0	0	1	0	0	0	8485	768	27	1	364	1	KRT72	12	52981542	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		52981542	80870353	17	120										
FAM158A	51016	broad.mit.edu	37	chr14	24610468	24610468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	tgggtaccgggcagcatgcaGgcacatcttcacgtaggcca	13	12	2	0			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr14:24610468G>A	ENST00000419198.2	-	1	326	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	EMC9_ENST00000560403.1_Intron|PSME2_ENST00000471700.2_5'Flank|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Silent_p.L16L|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	16						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											GCAGCATGCAGGCACATCTTC	0.647											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000419198.2																			0											c.(46-48)Ctg>Ttg		ER membrane protein complex subunit 9							88	86	86					14																	24610468		2203	4300	6503	SO:0001819	synonymous_variant	51016							g.chr14:24610468G>A	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 122", "family with sequence similarity 158, member A"	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.46C>T	14.37:g.24610468G>A			OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Silent_p.L16L	p.L16L							1	326	-								D3DS60|Q9BUM3	Silent	SNP	ENST00000419198.2	37	c.46C>T	CCDS9613.1																																																																																				0.647	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		20	40	0	0	0	1	0	20	40					A	24610468	G	A	24610468	2	1	7	1	0	0	0	0	0	0	0	1	5467	991	35	3		3	FAM158A	14	24610468	Silent	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		24610468	82739072	18	121										
PPP1R14D	54866	broad.mit.edu	37	chr15	41120792	41120792	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	accttcttacatgggttctcCccatctgggctgggagatgt	11	11	3	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr15:41120792C>A	ENST00000299174.5	-	1	115	c.48G>T	c.(46-48)ggG>ggT	p.G16G	PPP1R14D_ENST00000427255.2_Silent_p.G16G	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	16					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGGTTCTCCCCATCTGGGC	0.557																																						ENST00000299174.5																			0				breast(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(46-48)ggG>ggT		protein phosphatase 1, regulatory (inhibitor) subunit 14D							102	88	93					15																	41120792		2203	4300	6503	SO:0001819	synonymous_variant	54866				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr15:41120792C>A	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14953	protein-coding gene	gene with protein product	"gut and brain phosphatase inhibitor 1", "PKC-dependent PP1 inhibitory protein"	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.48G>T	15.37:g.41120792C>A						PPP1R14D_ENST00000427255.2_Silent_p.G16G	p.G16G	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	115	-		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	16					Q4V773	Silent	SNP	ENST00000299174.5	37	c.48G>T	CCDS10066.1																																																																																				0.557	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726		9	34	1	0	1.76689e-08	1	1.82044e-08	9	34					A	41120792	C	A	41120792	2	1	7	1	0	0	0	0	0	0	0	1	12362	610	22	5		5	PPP1R14D	15	41120792	Silent	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		41120792	61410600	19	122										
CCDC64B	146439	broad.mit.edu	37	chr16	3085362	3085362	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	caaggctaggtcctcgggctCctcaggccctgggccccctc	12	18	1	0			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:3085362C>G	ENST00000572449.1	-	2	198	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q|CCDC64B_ENST00000573514.1_5'Flank			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	46										breast(1)|endometrium(2)|large_intestine(1)	4						TCCTCGGGCTCCTCAGGCCCT	0.662																																						ENST00000572449.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(136-138)Gag>Cag		coiled-coil domain containing 64B							11	13	13					16																	3085362		1892	4102	5994	SO:0001583	missense	146439							g.chr16:3085362C>G	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.136G>C	16.37:g.3085362C>G	ENSP00000459043:p.Glu46Gln					RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q	p.E46Q			A1A5D9	BICR2_HUMAN			2	198	-			46					Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	c.136G>C	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	c	11.10	1.540795	0.27563	.	.	ENSG00000162069	ENST00000389347	T	0.31247	1.5	5.08	5.08	0.68730	.	0.302831	0.30311	N	0.009909	T	0.29817	0.0745	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.47981	0.563	T	0.12760	-1.0535	10	0.27082	T	0.32	-20.1274	15.9724	0.80031	0.0:1.0:0.0:0.0	.	46	A1A5D9	BICR2_HUMAN	Q	46	ENSP00000373998:E46Q	ENSP00000373998:E46Q	E	-	1	0	CCDC64B	3025363	0.089000	0.21612	0.685000	0.30070	0.520000	0.34377	2.376000	0.44292	2.361000	0.80049	0.457000	0.33378	GAG		0.662	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			6	3	0	0	0	1	0	6	3					G	3085362	C	G	3085362	3	3	7	1	0	0	0	0	1	0	0	0	2836	864	30	5	1426	5	CCDC64B	16	3085362	Missense_Mutation	SNP	C	TCGA-PR-A5PF-01A-11D-A35D-08		3085362	87269391	20	123										
ACSM2B	348158	broad.mit.edu	37	chr16	20565160	20565160	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	atgttctgccatcttgggaaGaccactggtcccactagtga	10	11	2	2	rs374276624		TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:20565160G>A	ENST00000329697.6	-	5	847	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	227					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTGGGAAGACCACTGGTC	0.512																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(679-681)Ctt>Ttt		acyl-CoA synthetase medium-chain family member 2B		G	PHE/LEU,PHE/LEU	0,4400		0,0,2200	95	87	90		679,679	2.3	0.2	16		90	3,8559	3.0+/-9.4	0,3,4278	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	22,22	0,3,6478	AA,AG,GG		0.035,0.0,0.0231	benign,benign	227/578,227/578	20565160	3,12959	2200	4281	6481	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565160G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.679C>T	16.37:g.20565160G>A	ENSP00000327453:p.Leu227Phe					ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F	p.L227F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			5	847	-			227					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.679C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.728476	0.00694	0.0	3.5E-4	ENSG00000066813	ENST00000329697	T	0.44881	0.91	3.36	2.28	0.28536	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.988822	0.08210	N	0.980877	T	0.33177	0.0854	L	0.53249	1.67	0.20703	N	0.999861	B;B	0.15930	0.015;0.015	B;B	0.17098	0.017;0.017	T	0.35847	-0.9772	10	0.10111	T	0.7	-0.0158	5.5407	0.17036	0.0:0.2177:0.5587:0.2236	.	227;227	A8K051;Q68CK6	.;ACS2B_HUMAN	F	227	ENSP00000327453:L227F	ENSP00000327453:L227F	L	-	1	0	ACSM2B	20472661	0.001000	0.12720	0.197000	0.23402	0.153000	0.21895	0.773000	0.26661	1.878000	0.54408	0.609000	0.83330	CTT		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		11	27	0	0	0	1	0	11	27					A	20565160	G	A	20565160	3	1	7	1	0	0	0	0	1	0	0	0	184	942	33	3	1094	3	ACSM2B	16	20565160	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	17479798	20565160	69789593	21	124										
TBC1D10B	26000	broad.mit.edu	37	chr16	30369824	30369824	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	actgcagctccccccgcgttTcccgccacttcttgagctgg	9	18	1	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:30369824T>C	ENST00000409939.3	-	9	1948	c.1868A>G	c.(1867-1869)gAa>gGa	p.E623G	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	623					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCCCCGCGTTTCCCGCCACTT	0.647																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1867-1869)gAa>gGa		TBC1 domain family, member 10B							24	24	24					16																	30369824		2197	4298	6495	SO:0001583	missense	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30369824T>C	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1868A>G	16.37:g.30369824T>C	ENSP00000386538:p.Glu623Gly						p.E623G	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		9	1948	-			623					B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	c.1868A>G	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387904	0.82902	.	.	ENSG00000169221	ENST00000409939	D	0.97161	-4.27	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.65498	2.005	0.58432	D	0.999993	D	0.53312	0.959	P	0.55011	0.766	D	0.97677	1.0170	10	0.87932	D	0	.	13.4141	0.60958	0.0:0.0:0.0:1.0	.	623	Q4KMP7	TB10B_HUMAN	G	623	ENSP00000386538:E623G	ENSP00000386538:E623G	E	-	2	0	TBC1D10B	30277325	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.781000	0.85668	2.067000	0.61834	0.402000	0.26972	GAA		0.647	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		8	2	0	0	0	1	0	8	2					C	30369824	T	C	30369824	3	2	7	1	0	0	0	0	1	0	0	0	15596	1783	62	4	562	4	TBC1D10B	16	30369824	Missense_Mutation	SNP	T	TCGA-PR-A5PF-01A-11D-A35D-08	9804664	30369824	59984929	22	125										
MINK1	50488	broad.mit.edu	37	chr17	4788820	4788820	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	gctggaccgcaccgtgggcaGacggaacactttcattggga	14	11	1	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr17:4788820G>A	ENST00000355280.6	+	7	747	c.551G>A	c.(550-552)aGa>aAa	p.R184K	MINK1_ENST00000453408.3_Missense_Mutation_p.R184K|MINK1_ENST00000347992.7_Missense_Mutation_p.R184K|RN7SL784P_ENST00000577319.1_RNA	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCGTGGGCAGACGGAACACT	0.567																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(550-552)aGa>aAa		misshapen-like kinase 1							109	115	113					17																	4788820		2109	4217	6326	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4788820G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.551G>A	17.37:g.4788820G>A	ENSP00000347427:p.Arg184Lys					MINK1_ENST00000453408.3_Missense_Mutation_p.R184K|MINK1_ENST00000347992.7_Missense_Mutation_p.R184K	p.R184K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			7	747	+			184			Protein kinase.			Missense_Mutation	SNP	ENST00000355280.6	37	c.551G>A	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873889	0.91664	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.64438	-0.1;-0.1;-0.1	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	N	0.02751	-0.505	0.80722	D	1	P;P;P;P	0.42010	0.726;0.726;0.768;0.726	B;B;P;B	0.44860	0.332;0.332;0.462;0.332	T	0.60182	-0.7313	10	0.87932	D	0	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	184;184;184;184	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	K	184	ENSP00000347427:R184K;ENSP00000406487:R184K;ENSP00000269296:R184K	ENSP00000269296:R184K	R	+	2	0	MINK1	4729603	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.657000	0.98554	2.884000	0.98904	0.655000	0.94253	AGA		0.567	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		29	58	0	0	0	1	0	29	58					A	4788820	G	A	4788820	3	1	7	1	0	0	0	0	1	0	0	0	9587	942	33	3	316	3	MINK1	17	4788820	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		4788820	76406390	23	126										
ADAMTS10	81794	broad.mit.edu	37	chr19	8654799	8654799	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ggtacgttttccacttgtagAatttcccacggaaagggatg	11	8	0	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr19:8654799A>T	ENST00000597188.1	-	16	2144	c.1874T>A	c.(1873-1875)tTc>tAc	p.F625Y	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.F625Y	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	625	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACTTGTAGAATTTCCCACG	0.577																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1873-1875)tTc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 10							72	65	67					19																	8654799		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654799A>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1874T>A	19.37:g.8654799A>T	ENSP00000471851:p.Phe625Tyr					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.F625Y|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T	p.F625Y			Q9H324	ATS10_HUMAN			15	2140	-			625			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1874T>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	4.311	0.057109	0.08339	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.05786	3.39	4.73	3.67	0.42095	.	0.153280	0.45606	U	0.000351	T	0.01976	0.0062	N	0.02412	-0.56	0.38436	D	0.946564	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37572	-0.9700	10	0.02654	T	1	.	7.1517	0.25614	0.5662:0.0:0.0:0.4338	.	379;625	Q59FE5;Q9H324	.;ATS10_HUMAN	Y	625;379	ENSP00000270328:F625Y	ENSP00000270328:F625Y	F	-	2	0	ADAMTS10	8560799	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.873000	0.56093	1.746000	0.51805	0.482000	0.46254	TTC		0.577	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		31	33	0	0	0	1	0	31	33					T	8654799	A	T	8654799	3	4	7	1	0	0	0	0	1	0	0	0	256	246	9	5	1481	5	ADAMTS10	19	8654799	Missense_Mutation	SNP	A	TCGA-PR-A5PF-01A-11D-A35D-08		8654799	50474184	24	127										
RALGAPB	57148	broad.mit.edu	37	chr20	37179720	37179720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	acttgttttaacagctttttGtacctgaacctcgcccagtt	6	11	0	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr20:37179720G>A	ENST00000262879.6	+	21	3300	c.3016G>A	c.(3016-3018)Gta>Ata	p.V1006I	RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1002I|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1006					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGCTTTTTGTACCTGAACC	0.388																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3016-3018)Gta>Ata		Ral GTPase activating protein, beta subunit (non-catalytic)							156	143	147					20																	37179720		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37179720G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3016G>A	20.37:g.37179720G>A	ENSP00000262879:p.Val1006Ile					RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1002I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I	p.V1006I			Q86X10	RLGPB_HUMAN			21	3300	+			1006					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3016G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422379	0.43020	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	6.03	5.03	0.67393	.	0.114674	0.64402	D	0.000015	T	0.37348	0.1000	N	0.16478	0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17806	-1.0357	9	0.17832	T	0.49	.	10.2025	0.43094	0.0701:0.1372:0.7926:0.0	.	1002;1006	A2A2E9;Q86X10	.;RLGPB_HUMAN	I	1006;1002;784;1006;834	.	ENSP00000262879:V1006I	V	+	1	0	RALGAPB	36613134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	2.868000	0.98415	0.557000	0.71058	GTA		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		5	153	0	0	0	1	0	5	153					A	37179720	G	A	37179720	3	1	7	1	0	0	0	0	1	0	0	0	13015	1377	48	3	3094	3	RALGAPB	20	37179720	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08		37179720	25845800	25	128										
RBM38	55544	broad.mit.edu	37	chr20	55982660	55982660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	ccagcgtggtgatcccagccGcccctgtcccgtcgctgtcc	11	19	0	1			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr20:55982660G>A	ENST00000356208.5	+	4	653	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.A79T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	160					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GATCCCAGCCGCCCCTGTCCC	0.662																																						ENST00000356208.5																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(478-480)Gcc>Acc		RNA binding motif protein 38							32	42	39					20																	55982660		2163	4256	6419	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55982660G>A	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"RNA binding motif (RRM) containing"	15818	protein-coding gene	gene with protein product		612428	"RNA-binding region (RNP1, RRM) containing 1"	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.478G>A	20.37:g.55982660G>A	ENSP00000348538:p.Ala160Thr					RBM38_ENST00000371219.2_Missense_Mutation_p.A79T|RBM38_ENST00000440234.2_3'UTR	p.A160T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		4	653	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		160					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.478G>A	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171288	0.09391	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.19250	2.56;2.16	4.55	0.757	0.18427	.	0.193349	0.45867	N	0.000332	T	0.05960	0.0155	N	0.01874	-0.695	0.30029	N	0.813679	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.12103	T	0.63	-4.6418	7.1131	0.25401	0.6394:0.0:0.3606:0.0	.	160	Q9H0Z9	RBM38_HUMAN	T	160;79	ENSP00000348538:A160T;ENSP00000360263:A79T	ENSP00000348538:A160T	A	+	1	0	RBM38	55416066	0.491000	0.26019	0.468000	0.27192	0.150000	0.21749	0.898000	0.28404	0.237000	0.21200	0.462000	0.41574	GCC		0.662	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		3	32	0	0	0	1	0	3	32					A	55982660	G	A	55982660	3	1	7	1	0	0	0	0	1	0	0	0	13132	1087	38	1	251	1	RBM38	20	55982660	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	18802940	55982660	7042860	26	129										
ZC3H7B	23264	broad.mit.edu	37	chr22	41721866	41721866	+	Frame_Shift_Del	DEL	C	C	-													0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	cctctgaccaggtggccctgCcccgggagctgctgtgcaag							TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:41721866delC	ENST00000352645.4	+	4	486	c.229delC	c.(229-231)cccfs	p.P77fs	ZC3H7B_ENST00000351589.4_Frame_Shift_Del_p.P77fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	77					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGTGGCCCTGCCCCGGGAGCT	0.592																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(229-231)ccfs		zinc finger CCCH-type containing 7B							60	41	48					22																	41721866		2203	4300	6503	SO:0001589	frameshift_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41721866delC		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.229delC	22.37:g.41721866delC	ENSP00000345793:p.Pro77fs					ZC3H7B_ENST00000351589.4_Frame_Shift_Del_p.P77fs	p.P77fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			4	486	+			77					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Frame_Shift_Del	DEL	ENST00000352645.4	37	c.229delC	CCDS14013.1																																																																																				0.592	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		2	4						2	4	---	---	---	---	-	41721866	C	-	41721866	7	5	7	1	0	1	0	1	0	0	0	0	17570	739	26	0	239	0	ZC3H7B	22	41721866	Frame_Shift_Del	DEL	C	TCGA-PR-A5PF-01A-11D-A35D-08		41721866	9582700	27	130										
TUBGCP6	85378	broad.mit.edu	37	chr22	50657281	50657281	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.107142857142857	3	1	1.95621301775148	2.82564102564103	1.69538461538462	1	1	0	cttgctcagcacagagttcaGcaccagcgggttgagcagct	12	12	2	2			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:50657281G>T	ENST00000248846.5	-	21	4776	c.4672C>A	c.(4672-4674)Ctg>Atg	p.L1558M	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1558					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACAGAGTTCAGCACCAGCGGG	0.637																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(4672-4674)Ctg>Atg		tubulin, gamma complex associated protein 6							64	63	63					22																	50657281		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657281G>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4672C>A	22.37:g.50657281G>T	ENSP00000248846:p.Leu1558Met					TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR	p.L1558M			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	21	4776	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1558					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4672C>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566330	0.45694	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.11604	2.76;2.76	4.63	3.6	0.41247	.	0.139198	0.47093	D	0.000260	T	0.25568	0.0622	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.97110	1.0;0.991;0.985	T	0.00763	-1.1576	10	0.49607	T	0.09	.	12.8342	0.57763	0.0815:0.0:0.9185:0.0	.	1550;1558;1558	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	M	1558;244	ENSP00000248846:L1558M;ENSP00000405979:L244M	ENSP00000248846:L1558M	L	-	1	2	TUBGCP6	48999408	1.000000	0.71417	0.359000	0.25824	0.162000	0.22319	5.066000	0.64351	1.153000	0.42468	0.591000	0.81541	CTG		0.637	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		15	7	1	0	9.7654e-05	1	9.7654e-05	15	7					T	50657281	G	T	50657281	3	4	7	1	0	0	0	0	1	0	0	0	16767	962	34	5	807	5	TUBGCP6	22	50657281	Missense_Mutation	SNP	G	TCGA-PR-A5PF-01A-11D-A35D-08	8935415	50657281	647285	28	131										
TMCO4	255104	broad.mit.edu	37	chr1	20067293	20067293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	acaacactgtgtactttaggGcctcctgggccaccatgttg	10	12	0	0			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:20067293G>A	ENST00000294543.6	-	11	1260	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V|TMCO4_ENST00000489814.1_5'Flank|TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	340						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTACTTTAGGGCCTCCTGGGC	0.577																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1018-1020)gCc>gTc		transmembrane and coiled-coil domains 4							101	101	101					1																	20067293		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20067293G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1019C>T	1.37:g.20067293G>A	ENSP00000294543:p.Ala340Val					TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V|TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V	p.A340V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	11	1260	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	340					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1019C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432568	0.43224	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.38401	1.14;1.14;1.14	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	N	0.14661	0.345	0.54753	D	0.999989	B	0.25486	0.127	B	0.35859	0.212	T	0.09037	-1.0693	10	0.14252	T	0.57	-13.4052	16.5542	0.84481	0.0:0.0:1.0:0.0	.	340	Q5TGY1	TMCO4_HUMAN	V	340;340;300	ENSP00000294543:A340V;ENSP00000364269:A340V;ENSP00000364264:A300V	ENSP00000294543:A340V	A	-	2	0	TMCO4	19939880	1.000000	0.71417	0.998000	0.56505	0.603000	0.37013	9.114000	0.94329	2.506000	0.84524	0.655000	0.94253	GCC		0.577	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		21	6	0	0	0	1	0	21	6					A	20067293	G	A	20067293	3	1	8	1	0	0	0	0	1	0	0	0	15995	1203	42	3	909	3	TMCO4	1	20067293	Missense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08		20067293	229183328	1	132										
C1orf113	79729	broad.mit.edu	37	chr1	36786147	36786147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	agtggcttccaaagaggaggTgaccctgaaagaggaattgc	14	7	0	4			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:36786147T>C	ENST00000426732.2	+	13	1820	c.1535T>C	c.(1534-1536)gTg>gCg	p.V512A	SH3D21_ENST00000505871.1_Missense_Mutation_p.V517A|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Missense_Mutation_p.V628A|SH3D21_ENST00000312808.4_Missense_Mutation_p.V274A|SH3D21_ENST00000474766.1_3'UTR			A4FU49	SH321_HUMAN	SH3 domain containing 21	512						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AAAGAGGAGGTGACCCTGAAA	0.562																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1882-1884)gTg>gCg		SH3 domain containing 21							48	58	54					1																	36786147		2203	4300	6503	SO:0001583	missense	79729							g.chr1:36786147T>C	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 113"	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1535T>C	1.37:g.36786147T>C	ENSP00000408613:p.Val512Ala					SH3D21_ENST00000426732.2_Missense_Mutation_p.V512A|SH3D21_ENST00000312808.4_Missense_Mutation_p.V274A|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.V517A	p.V628A	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1911	+			512					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1883T>C		.	.	.	.	.	.	.	.	.	.	T	11.98	1.799840	0.31869	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.46063	1.44;1.77;0.88;1.77	1.36	-2.71	0.05986	.	.	.	.	.	T	0.24275	0.0588	L	0.46157	1.445	0.09310	N	1	B;P	0.36222	0.007;0.544	B;B	0.23716	0.001;0.048	T	0.06427	-1.0827	9	0.30078	T	0.28	.	3.7521	0.08570	0.0:0.3657:0.1983:0.4359	.	517;512	A4FU49-3;A4FU49	.;SH321_HUMAN	A	628;512;274;517	ENSP00000403476:V628A;ENSP00000408613:V512A;ENSP00000321936:V274A;ENSP00000421294:V517A	ENSP00000321936:V274A	V	+	2	0	SH3D21	36558734	0.043000	0.20138	0.000000	0.03702	0.001000	0.01503	0.460000	0.21924	-1.337000	0.02236	-0.371000	0.07208	GTG		0.562	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		6	30	0	0	0	1	0	6	30					C	36786147	T	C	36786147	3	2	8	1	0	0	0	0	1	0	0	0	1986	1696	59	4	1937	4	C1orf113	1	36786147	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08	16718854	36786147	212464474	2	133										
CACHD1	57685	broad.mit.edu	37	chr1	65124466	65124466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	aacaactgaagaacctcaacActgttcccagcagcaagctg	7	13	1	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:65124466A>C	ENST00000371073.2	+	13	1861	c.1861A>C	c.(1861-1863)Act>Cct	p.T621P	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T570P			Q5VU97	CAHD1_HUMAN	cache domain containing 1	621					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAACCTCAACACTGTTCCCAG	0.463																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1861-1863)Act>Cct		cache domain containing 1							73	68	70					1																	65124466		2203	4299	6502	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65124466A>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1861A>C	1.37:g.65124466A>C	ENSP00000360113:p.Thr621Pro					CACHD1_ENST00000290039.5_Missense_Mutation_p.T570P|CACHD1_ENST00000495994.1_3'UTR	p.T621P			Q5VU97	CAHD1_HUMAN			13	1861	+			621					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1861A>C		.	.	.	.	.	.	.	.	.	.	A	16.36	3.101865	0.56183	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24538	1.85;1.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	N	0.20685	0.6	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.05386	-1.0888	10	0.23302	T	0.38	-23.8506	15.7982	0.78428	1.0:0.0:0.0:0.0	.	621	Q5VU97	CAHD1_HUMAN	P	621;570	ENSP00000360113:T621P;ENSP00000290039:T570P	ENSP00000290039:T570P	T	+	1	0	CACHD1	64897054	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	8.923000	0.92808	2.132000	0.65825	0.533000	0.62120	ACT		0.463	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		11	8	0	0	0	1	0	11	8					C	65124466	A	C	65124466	3	2	8	1	0	0	0	0	1	0	0	0	2537	159	6	5	1758	5	CACHD1	1	65124466	Missense_Mutation	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08	28338319	65124466	184126155	3	134										
ITGA10	8515	broad.mit.edu	37	chr1	145538808	145538808	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	gaattcaaaaccactctcagGgtgagaagctggaggggtct	13	8	3	1			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:145538808G>A	ENST00000369304.3	+	24	3094	c.2919G>A	c.(2917-2919)agG>agA	p.R973R	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000539363.1_Splice_Site_p.R830R|ITGA10_ENST00000538811.1_Splice_Site_p.R842R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	973					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R973S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCACTCTCAGGGTGAGAAGCT	0.522																																						ENST00000369304.3																			1	Substitution - Missense(1)	p.R973S(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e24+1		integrin, alpha 10							43	41	41					1																	145538808		2203	4300	6503	SO:0001630	splice_region_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145538808G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2919+1G>A	1.37:g.145538808G>A						ITGA10_ENST00000539363.1_Splice_Site_p.R830_splice|ITGA10_ENST00000538811.1_Splice_Site_p.R842_splice	p.R973_splice	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			24	3094	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		973					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Splice_Site	SNP	ENST00000369304.3	37	c.2919_splice	CCDS918.1																																																																																				0.522	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	Silent	16	26	0	0	0	1	0	16	26					A	145538808	G	A	145538808	5	1	8	1	0	0	0	0	0	0	1	0	7873	1246	43	3	3013	3	ITGA10	1	145538808	Splice_Site	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	80414342	145538808	103711813	4	135										
CACNA1D	776	broad.mit.edu	37	chr3	53839013	53839013	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	tcctctctgacctccaggcaAaactatggctactacagcag	7	14	1	1			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr3:53839013A>G	ENST00000350061.5	+	45	6100	c.5589A>G	c.(5587-5589)caA>caG	p.Q1863Q	CACNA1D_ENST00000422281.2_Silent_p.Q1839Q|CACNA1D_ENST00000544977.1_Silent_p.Q242Q|CACNA1D_ENST00000288139.4_Silent_p.Q1883Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1863					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCAGGCAAAACTATGGCT	0.552																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5647-5649)caA>caG		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						84	82	82					3																	53839013		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53839013A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5589A>G	3.37:g.53839013A>G						CACNA1D_ENST00000422281.2_Silent_p.Q1839Q|CACNA1D_ENST00000350061.5_Silent_p.Q1863Q|CACNA1D_ENST00000544977.1_Silent_p.Q242Q	p.Q1883Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	5767	+			1863					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.5649A>G	CCDS46848.1																																																																																				0.552	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		28	33	0	0	0	1	0	28	33					G	53839013	A	G	53839013	2	3	8	1	0	0	0	0	0	0	0	1	2541	11	1	4		4	CACNA1D	3	53839013	Silent	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08		53839013	144183417	5	136										
ERVFRDE1	405754	broad.mit.edu	37	chr6	11105081	11105081	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	gtatgtttggtaagtctgttGgttagaatctacagtgaaag	12	3	2	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr6:11105081G>A	ENST00000472091.1	-	2	838	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q155*	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	155					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TAAGTCTGTTGGTTAGAATCT	0.393																																						ENST00000472091.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						c.(463-465)Caa>Taa									160	173	169					6																	11105081		2201	4300	6501	SO:0001587	stop_gained	405754					integral to membrane|plasma membrane|virion		g.chr6:11105081G>A	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.463C>T	6.37:g.11105081G>A	ENSP00000420174:p.Gln155*					SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q155*	p.Q155*	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN			2	838	-			155						Nonsense_Mutation	SNP	ENST00000472091.1	37	c.463C>T	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	37	6.083291	0.97267	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	.	.	.	.	.	.	.	X	155	.	ENSP00000420174:Q155X	Q	-	1	0	ERVFRD-1	11213067	0.401000	0.25303	0.709000	0.30452	0.709000	0.40893	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CAA		0.393	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		6	398	0	0	0	1	0	6	398					A	11105081	G	A	11105081	4	1	8	1	0	0	0	0	0	1	0	0	5246	1357	47	3	1157	3	ERVFRDE1	6	11105081	Nonsense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08		11105081	160009986	6	137										
FAM82B	51115	broad.mit.edu	37	chr8	87498786	87498786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ctagggcttcatacaccaatAgctttttctcctcttctgag	6	12	4	1			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr8:87498786A>G	ENST00000406452.3	-	4	581	c.422T>C	c.(421-423)cTa>cCa	p.L141P	RMDN1_ENST00000519966.1_Missense_Mutation_p.L141P|RMDN1_ENST00000430676.2_Missense_Mutation_p.L141P|RMDN1_ENST00000523911.1_Missense_Mutation_p.L97P|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	141						microtubule (GO:0005874)|mitochondrion (GO:0005739)											ATACACCAATAGCTTTTTCTC	0.398																																						ENST00000406452.3																			0											c.(421-423)cTa>cCa		regulator of microtubule dynamics 1							138	120	126					8																	87498786		2203	4300	6503	SO:0001583	missense	51115							g.chr8:87498786A>G	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.422T>C	8.37:g.87498786A>G	ENSP00000385927:p.Leu141Pro					RMDN1_ENST00000523911.1_Missense_Mutation_p.L97P|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Missense_Mutation_p.L141P|RMDN1_ENST00000430676.2_Missense_Mutation_p.L141P	p.L141P	NM_016033.2	NP_057117.2					4	581	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	c.422T>C	CCDS34918.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453868	0.26161	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000520719	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.88	-1.6	0.08426	Tetratricopeptide-like helical (1);	0.651344	0.15537	N	0.257162	T	0.19805	0.0476	N	0.19112	0.55	0.09310	N	1	B;B;B	0.34264	0.446;0.007;0.007	B;B;B	0.33750	0.169;0.009;0.009	T	0.10800	-1.0614	10	0.30854	T	0.27	0.9952	2.5391	0.04722	0.2054:0.387:0.0788:0.3288	.	141;141;141	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	P	141;97;141;141;5	ENSP00000385927:L141P;ENSP00000429899:L97P;ENSP00000428661:L141P;ENSP00000409661:L141P;ENSP00000428360:L5P	ENSP00000385927:L141P	L	-	2	0	FAM82B	87567902	0.478000	0.25917	0.004000	0.12327	0.955000	0.61496	0.597000	0.24059	-0.076000	0.12775	0.528000	0.53228	CTA		0.398	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		33	67	0	0	0	1	0	33	67					G	87498786	A	G	87498786	3	3	8	1	0	0	0	0	1	0	0	0	5632	420	15	4	550	4	FAM82B	8	87498786	Missense_Mutation	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08		87498786	58865236	7	138										
KIAA1984	84960	broad.mit.edu	37	chr9	139694454	139694455	+	Splice_Site	INS	-	-	AAGA													0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ggtgcccttcccgacccaggINStggtgcgggagaagctgcgc					rs544503929|rs201098545	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr9:139694454_139694455insAAGA	ENST00000338005.6	+	4	306_307	c.271_272insAAGA	c.(271-273)gtg>gAAGAtg	p.V91fs	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Splice_Site_p.V121fs	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		91										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCCGACCCAGGTGGTGCGGGAG	0.688																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e4-1		KIAA1984				1,3731		0,1,1865						3.9	0.8		dbSNP_126	19	31,7837		2,27,3905	no	frameshift-near-splice	KIAA1984	NM_001039374.4		2,28,5770	A1A1,A1R,RR		0.394,0.0268,0.2759				32,11568				SO:0001630	splice_region_variant	84960							g.chr9:139694454_139694455insAAGA																												ENST00000338005.6:c.271-1->AAGA	9.37:g.139694454_139694455insAAGA						KIAA1984_ENST00000371682.3_3'UTR	p.G91_splice	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	4	306_307	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	91					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	INS	ENST00000338005.6	37	c.270_splice	CCDS43906.1																																																																																				0.688	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Frame_Shift_Ins	2	4						2	4	---	---	---	---	AAGA	139694455	-	AAGA	139694454	8	5	8	1	0	1	1	0	0	0	1	0	8266	1275	44	0	285	0	KIAA1984	9	139694454	Splice_Site	INS	-	TCGA-PR-A5PG-01A-11D-A35D-08		139694454	1518977	8	139										
FAM53B	9679	broad.mit.edu	37	chr10	126370689	126370689	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	cagactttggagcccaagggCctccatgatgtccggcaact	11	13	0	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr10:126370689C>G	ENST00000337318.3	-	4	604	c.393G>C	c.(391-393)agG>agC	p.R131S	FAM53B_ENST00000280780.6_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	131										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGCCCAAGGGCCTCCATGATG	0.612																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(391-393)agG>agC		family with sequence similarity 53, member B							29	26	27					10																	126370689		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126370689C>G	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.393G>C	10.37:g.126370689C>G	ENSP00000338532:p.Arg131Ser					FAM53B_ENST00000280780.6_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S	p.R131S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	604	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	131					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.393G>C	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657101	0.67586	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.61510	0.1;0.1;0.1	4.98	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.73598	2.24	0.46901	D	0.999244	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.65773	0.91;0.938;0.91	T	0.67300	-0.5705	10	0.87932	D	0	-5.2425	3.627	0.08117	0.0:0.5094:0.1951:0.2955	.	131;131;131	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	S	131	ENSP00000338532:R131S;ENSP00000376509:R131S;ENSP00000280780:R131S	ENSP00000280780:R131S	R	-	3	2	FAM53B	126360679	0.921000	0.31238	1.000000	0.80357	0.992000	0.81027	0.071000	0.14594	0.777000	0.33496	0.655000	0.94253	AGG		0.612	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		6	12	0	0	0	1	0	6	12					G	126370689	C	G	126370689	3	3	8	1	0	0	0	0	1	0	0	0	5580	738	26	5	883	5	FAM53B	10	126370689	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		126370689	9164058	9	140										
HRAS	3265	broad.mit.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	7	23	1	0	rs104894228		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Cgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85	80	82					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	224	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		31	21	0	0	0	1	0	31	21					G	534286	C	G	534286	3	3	8	1	0	0	0	0	1	0	0	0	7348	652	23	5	615	5	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		534286	134472230	10	141										
MUC5B	727897	broad.mit.edu	37	chr11	1270623	1270623	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	gtctgtgagcagcccctgggCctcgagtgccgtgcccaggc	15	15	1	1			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:1270623C>A	ENST00000529681.1	+	31	12571	c.12513C>A	c.(12511-12513)ggC>ggA	p.G4171G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.G4174G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4171	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCCCCTGGGCCTCGAGTGCC	0.682																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12520-12522)ggC>ggA		mucin 5B, oligomeric mucus/gel-forming							19	26	24					11																	1270623		1835	4061	5896	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270623C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12513C>A	11.37:g.1270623C>A						MUC5B_ENST00000529681.1_Silent_p.G4171G|RP11-532E4.2_ENST00000532061.2_RNA	p.G4174G			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12580	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4171			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.12522C>A	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	76	1	0	4.62619e-21	1	4.96469e-21	25	76					A	1270623	C	A	1270623	2	1	8	1	0	0	0	0	0	0	0	1	9979	726	26	5		5	MUC5B	11	1270623	Silent	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	736337	1270623	133735893	11	142										
PPP1R14B	26472	broad.mit.edu	37	chr11	64014017	64014017	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	actgggccctcatcgtccgcCccgcccgggccctctcctgc	10	22	2	0	rs1063811	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:64014017C>G	ENST00000309318.3	-	1	396	c.129G>C	c.(127-129)ggG>ggC	p.G43G	RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000542235.1_5'Flank|RP11-783K16.5_ENST00000544553.1_RNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	43					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CATCGTCCGCCCCGCCCGGGC	0.721																																						ENST00000309318.3																			0				kidney(1)|lung(1)|pancreas(1)	3						c.(127-129)ggG>ggC		protein phosphatase 1, regulatory (inhibitor) subunit 14B																																				SO:0001819	synonymous_variant	26472				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr11:64014017C>G	X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.129G>C	11.37:g.64014017C>G						RP11-783K16.5_ENST00000544553.1_RNA	p.G43G	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN			1	396	-			43					Q504S7|Q7KZD7	Silent	SNP	ENST00000309318.3	37	c.129G>C	CCDS31596.1																																																																																				0.721	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2	NM_138689		3	20	0	0	0	1	0	3	20					G	64014017	C	G	64014017	2	3	8	1	0	0	0	0	0	0	0	1	12360	610	22	5		5	PPP1R14B	11	64014017	Silent	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	62743394	64014017	70992499	12	143										
TTC12	54970	broad.mit.edu	37	chr11	113212566	113212566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ttgtccattctaggtgttttTccacagcaggaaatgatgca	9	8	1	1			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:113212566T>C	ENST00000529221.1	+	12	1009	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P	TTC12_ENST00000483239.2_Missense_Mutation_p.S308P|TTC12_ENST00000393020.1_Missense_Mutation_p.S302P|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P|TTC12_ENST00000478125.1_3'UTR	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	302										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TAGGTGTTTTTCCACAGCAGG	0.423																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(904-906)Tcc>Ccc		tetratricopeptide repeat domain 12							175	169	171					11																	113212566		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113212566T>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.904T>C	11.37:g.113212566T>C	ENSP00000433757:p.Ser302Pro					TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P|TTC12_ENST00000529221.1_Missense_Mutation_p.S302P|TTC12_ENST00000483239.2_Missense_Mutation_p.S308P	p.S302P			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	12	1309	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	302					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.904T>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559814	0.27827	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.15718	2.43;2.41;2.4;2.43	5.25	4.06	0.47325	Armadillo-type fold (1);	0.649218	0.15974	N	0.235610	T	0.19525	0.0469	M	0.62723	1.935	0.09310	N	1	P;P	0.45283	0.855;0.855	B;B	0.41571	0.36;0.36	T	0.10753	-1.0616	10	0.44086	T	0.13	-8.256	9.7099	0.40238	0.0:0.0:0.1871:0.8129	.	302;302	A8K8G6;Q9H892	.;TTC12_HUMAN	P	302;302;302;308	ENSP00000433757:S302P;ENSP00000315160:S302P;ENSP00000376743:S302P;ENSP00000419652:S308P	ENSP00000315160:S302P	S	+	1	0	TTC12	112717776	0.746000	0.28272	0.621000	0.29145	0.102000	0.19082	1.919000	0.40015	1.984000	0.57885	0.459000	0.35465	TCC		0.423	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		32	58	0	0	0	1	0	32	58					C	113212566	T	C	113212566	3	2	8	1	0	0	0	0	1	0	0	0	16676	1783	62	4	946	4	TTC12	11	113212566	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08	49198549	113212566	21793950	13	144										
KRT3	3850	broad.mit.edu	37	chr12	53189646	53189646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ggagatgctcttgttgccgcCcaggttgtagaggctgcgac	15	10	1	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr12:53189646C>T	ENST00000417996.2	-	1	255	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	KRT3_ENST00000309505.3_Missense_Mutation_p.G61S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	61	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGTTGCCGCCCAGGTTGTAG	0.667																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(181-183)Ggc>Agc		keratin 3							79	102	95					12																	53189646		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189646C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.181G>A	12.37:g.53189646C>T	ENSP00000413479:p.Gly61Ser					KRT3_ENST00000309505.3_Missense_Mutation_p.G61S	p.G61S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	255	-			61			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.181G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494505	0.64186	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91843	-2.92;-2.92	5.16	5.16	0.70880	.	0.000000	0.47455	D	0.000225	D	0.93019	0.7778	M	0.65320	2	0.37011	D	0.895739	D	0.56968	0.978	P	0.51297	0.665	D	0.94870	0.8029	10	0.62326	D	0.03	.	15.4475	0.75243	0.1392:0.8608:0.0:0.0	.	61	P12035	K2C3_HUMAN	S	61	ENSP00000413479:G61S;ENSP00000312206:G61S	ENSP00000312206:G61S	G	-	1	0	KRT3	51475913	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.788000	0.55446	2.575000	0.86900	0.555000	0.69702	GGC		0.667	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		39	84	0	0	0	1	0	39	84					T	53189646	C	T	53189646	3	4	8	1	0	0	0	0	1	0	0	0	8466	623	22	3	1741	3	KRT3	12	53189646	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		53189646	80662249	14	145										
BRCA2	90634	broad.mit.edu	37	chr13	32972852	32972852	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ggagagttcccaggccagtaCggaagaatgtgagaaaaata	13	6	0	3	rs55853199		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr13:32972852C>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.T3401M|N4BP2L1_ENST00000459716.1_5'Flank|BRCA2_ENST00000544455.1_Missense_Mutation_p.T3401M	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CAGGCCAGTACGGAAGAATGT	0.398													C|||	1	0.000199681	8e-04	0	5008	,	,		17926	0		0	False		,,,				2504	0					ENST00000544455.1										"D, Mis, N, F, S"						"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	HM971469	BRCA2	M	rs55853199	c.(10201-10203)aCg>aTg	Homologous recombination	breast cancer 2, early onset							59	56	57					13																	32972852		2203	4300	6503	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972852C>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"hypothetical gene CG018"					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972852C>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.T3401M	p.T3401M	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10429	+		Lung SC(185;0.0262)	3401					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10202C>T	CCDS9345.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.12	1.264080	0.23136	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	5.23	1.42	0.22433	.	1.003580	0.08024	N	0.992518	T	0.00845	0.0028	L	0.32530	0.975	0.09310	N	1	B	0.27351	0.176	B	0.19946	0.027	T	0.48758	-0.9007	10	0.72032	D	0.01	.	6.1574	0.20346	0.2623:0.5787:0.0:0.159	rs55853199	3401	P51587	BRCA2_HUMAN	M	3401	ENSP00000369497:T3401M;ENSP00000439902:T3401M	ENSP00000369497:T3401M	T	+	2	0	BRCA2	31870852	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.080000	0.14802	-0.032000	0.13758	-1.466000	0.01016	ACG		0.398	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		4	55	0	0	0	1	0	4	55					T	32972852	C	T	32972852	1	4	8	0	1	0	0	0	0	0	0	0	1499	536	19	1		1	BRCA2	13	32972852	IGR	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		32972852	82197026	15	146										
CSPG4	1464	broad.mit.edu	37	chr15	75982728	75982728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	tgtgtggtgagtgtaaactcTagggttccttcgtcctgagt	13	7	1	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(676-678)ctA>ctG		chondroitin sulfate proteoglycan 4							20	22	21					15																	75982728		2187	4271	6458	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982728T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.678A>G	15.37:g.75982728T>C							p.L226L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	770	-			226			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.678A>G	CCDS10284.1																																																																																				0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	46	0	0	0	1	0	3	46					C	75982728	T	C	75982728	2	2	8	1	0	0	0	0	0	0	0	1	3960	1509	53	4		4	CSPG4	15	75982728	Silent	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08		75982728	26548664	16	147										
C16orf71	146562	broad.mit.edu	37	chr16	4787829	4787829	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	tggggaagaggagctgttcaTcttccagcgaaaccaaacct	11	10	2	1	rs141702834		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr16:4787829T>A	ENST00000299320.5	+	3	636	c.158T>A	c.(157-159)aTc>aAc	p.I53N	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.I53N	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	53										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GAGCTGTTCATCTTCCAGCGA	0.602																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(157-159)aTc>aAc		chromosome 16 open reading frame 71							85	82	83					16																	4787829		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4787829T>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.158T>A	16.37:g.4787829T>A	ENSP00000299320:p.Ile53Asn					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.I53N	p.I53N	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			3	636	+			53					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.158T>A	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262804	0.80358	.	.	ENSG00000166246	ENST00000299320	T	0.13538	2.58	4.51	4.51	0.55191	.	0.000000	0.42821	D	0.000648	T	0.31358	0.0794	L	0.58101	1.795	0.34355	D	0.690259	D	0.89917	1.0	D	0.72075	0.976	T	0.45308	-0.9270	10	0.87932	D	0	-8.0223	12.0246	0.53362	0.0:0.0:0.0:1.0	.	53	Q8IYS4	CP071_HUMAN	N	53	ENSP00000299320:I53N	ENSP00000299320:I53N	I	+	2	0	C16orf71	4727830	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.192000	0.58378	2.050000	0.60909	0.529000	0.55759	ATC		0.602	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		6	65	0	0	0	1	0	6	65					A	4787829	T	A	4787829	3	1	8	1	0	0	0	0	1	0	0	0	1830	1435	50	5	164	5	C16orf71	16	4787829	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08		4787829	85566924	17	148										
CDC27	996	broad.mit.edu	37	chr17	45219308	45219308	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	gtgagaaggtagatggctcaAaatatttatagcttctttgc	10	5	2	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:45219308A>G	ENST00000066544.3	-	12	1555	c.1462T>C	c.(1462-1464)Ttg>Ctg	p.L488L	CDC27_ENST00000527547.1_Silent_p.L487L|CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000531206.1_Silent_p.L494L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	488					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGATGGCTCAAAATATTTATA	0.383																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1462-1464)Ttg>Ctg		cell division cycle 27							112	118	116					17																	45219308		2203	4299	6502	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219308A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1462T>C	17.37:g.45219308A>G						CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000531206.1_Silent_p.L494L|CDC27_ENST00000527547.1_Silent_p.L487L	p.L488L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1555	-			488					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1462T>C	CCDS11509.1																																																																																				0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			73	220	0	0	0	1	0	73	220					G	45219308	A	G	45219308	2	3	8	1	0	0	0	0	0	0	0	1	3066	11	1	4		4	CDC27	17	45219308	Silent	SNP	A	TCGA-PR-A5PG-01A-11D-A35D-08		45219308	35975902	18	149										
BPTF	2186	broad.mit.edu	37	chr17	65944414	65944414	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	tggacaaggatctgcaaattGaagtgcaggtaagagggcac	14	6	1	2			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:65944414G>A	ENST00000321892.4	+	25	8357	c.8296G>A	c.(8296-8298)Gaa>Aaa	p.E2766K	BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000306378.6_Missense_Mutation_p.E2640K|RP11-855A2.3_ENST00000577385.1_RNA|BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2766					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGCAAATTGAAGTGCAGGT	0.443																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(8296-8298)Gaa>Aaa		bromodomain PHD finger transcription factor							69	50	57					17																	65944414		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65944414G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8296G>A	17.37:g.65944414G>A	ENSP00000315454:p.Glu2766Lys					BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K|BPTF_ENST00000306378.6_Missense_Mutation_p.E2640K	p.E2766K			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		25	8357	+	all_cancers(12;6e-11)		2766					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.8296G>A		.	.	.	.	.	.	.	.	.	.	G	10.95	1.496041	0.26774	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.64438	2.61;-0.1;2.61	5.75	3.66	0.41972	.	.	.	.	.	T	0.64327	0.2588	M	0.61703	1.905	0.44268	D	0.997127	P;P;P	0.49961	0.93;0.649;0.649	P;B;B	0.45138	0.471;0.23;0.23	T	0.69034	-0.5252	9	0.66056	D	0.02	-4.5391	15.911	0.79473	0.0:0.2646:0.7354:0.0	.	444;2640;2623	B4DJV8;Q12830-2;Q12830-4	.;.;.	K	2640;2623;2766;294	ENSP00000307208:E2640K;ENSP00000334351:E2623K;ENSP00000315454:E2766K	ENSP00000307208:E2640K	E	+	1	0	BPTF	63374876	0.992000	0.36948	0.479000	0.27329	0.029000	0.11900	2.001000	0.40825	0.697000	0.31718	0.563000	0.77884	GAA		0.443	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	25	0	0	0	1	0	5	25					A	65944414	G	A	65944414	3	1	8	1	0	0	0	0	1	0	0	0	1495	1291	45	3	8394	3	BPTF	17	65944414	Missense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	20725106	65944414	15250796	19	150										
SLC2A10	81031	broad.mit.edu	37	chr20	45354641	45354641	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ctcgtcagctttgccgtgccCatggactcaggcccaagctg	11	15	2	0			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:45354641C>A	ENST00000359271.2	+	2	1216	c.966C>A	c.(964-966)ccC>ccA	p.P322P		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	322					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTGCCGTGCCCATGGACTCAG	0.657																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(964-966)ccC>ccA		solute carrier family 2 (facilitated glucose transporter), member 10							63	57	59					20																	45354641		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354641C>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.966C>A	20.37:g.45354641C>A							p.P322P	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	1216	+		Myeloproliferative disorder(115;0.0122)	322					A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.966C>A	CCDS13402.1																																																																																				0.657	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			20	22	1	0	1.56452e-12	1	1.63903e-12	20	22					A	45354641	C	A	45354641	2	1	8	1	0	0	0	0	0	0	0	1	14539	581	21	5		5	SLC2A10	20	45354641	Silent	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08		45354641	17670879	20	151										
KCNB1	3745	broad.mit.edu	37	chr20	47991070	47991070	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	gacaaggctggagaagatcaTaatgcccatggcaaggaaga	13	7	1	3			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:47991070T>C	ENST00000371741.4	-	2	1193	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	343					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GAGAAGATCATAATGCCCATG	0.537																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1027-1029)Atg>Gtg		potassium voltage-gated channel, Shab-related subfamily, member 1							59	56	57					20																	47991070		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991070T>C	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1027A>G	20.37:g.47991070T>C	ENSP00000360806:p.Met343Val						p.M343V	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1193	-			343					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1027A>G	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281325	0.40394	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98345	-4.88	5.93	5.93	0.95920	Ion transport (1);	0.126818	0.64402	D	0.000001	D	0.93923	0.8055	N	0.01081	-1.03	0.80722	D	1	P	0.37370	0.592	P	0.44447	0.45	D	0.95246	0.8355	10	0.54805	T	0.06	.	16.0388	0.80650	0.0:0.0:0.0:1.0	.	343	Q14721	KCNB1_HUMAN	V	343;298	ENSP00000360806:M343V	ENSP00000360806:M343V	M	-	1	0	KCNB1	47424477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.270000	0.75569	0.533000	0.62120	ATG		0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		17	32	0	0	0	1	0	17	32					C	47991070	T	C	47991070	3	2	8	1	0	0	0	0	1	0	0	0	8012	1406	49	4	1553	4	KCNB1	20	47991070	Missense_Mutation	SNP	T	TCGA-PR-A5PG-01A-11D-A35D-08	2636429	47991070	15034450	21	152										
PCMTD2	55251	broad.mit.edu	37	chr20	62904858	62904858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	agaccccgccggaaacaaagCcagaccccccagtgaacttc	8	17	0	3			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:62904858C>T	ENST00000308824.6	+	6	1118	c.991C>T	c.(991-993)Cca>Tca	p.P331S	PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000369758.4_Missense_Mutation_p.P304S|PCMTD2_ENST00000609372.1_Missense_Mutation_p.P181S|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	331						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAACAAAGCCAGACCCCCC	0.507																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(991-993)Cca>Tca		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							90	117	108					20																	62904858		2202	4299	6501	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904858C>T	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.991C>T	20.37:g.62904858C>T	ENSP00000307854:p.Pro331Ser					PCMTD2_ENST00000369758.3_Missense_Mutation_p.P304S|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.P107S	p.P331S	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	1118	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		331					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.991C>T	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.955520	0.73902	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.46063	0.88;1.54;0.88	5.17	5.17	0.71159	.	0.113318	0.64402	D	0.000013	T	0.51483	0.1677	L	0.47716	1.5	0.49798	D	0.999824	D;P	0.55385	0.971;0.888	P;P	0.52957	0.714;0.537	T	0.52609	-0.8553	10	0.54805	T	0.06	-13.6418	18.6781	0.91535	0.0:1.0:0.0:0.0	.	304;331	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	S	304;331;107	ENSP00000358773:P304S;ENSP00000307854:P331S;ENSP00000266078:P107S	ENSP00000266078:P107S	P	+	1	0	PCMTD2	62375302	1.000000	0.71417	0.781000	0.31783	0.920000	0.55202	2.449000	0.44935	2.406000	0.81754	0.655000	0.94253	CCA		0.507	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		52	78	0	0	0	1	0	52	78					T	62904858	C	T	62904858	3	4	8	1	0	0	0	0	1	0	0	0	11587	739	26	3	1009	3	PCMTD2	20	62904858	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	14913788	62904858	120662	22	153										
LONRF3	79836	broad.mit.edu	37	chrX	118143095	118143095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	ctccccccatgtagtgcttgGcatcaagaaaatacagcaaa	7	12	1	1			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:118143095G>T	ENST00000371628.3	+	7	1568	c.1537G>T	c.(1537-1539)Gca>Tca	p.A513S	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S|LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	513							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTAGTGCTTGGCATCAAGAAA	0.378																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1414-1416)Gca>Tca		LON peptidase N-terminal domain and ring finger 3							92	83	86					X																	118143095		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118143095G>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1537G>T	X.37:g.118143095G>T	ENSP00000360690:p.Ala513Ser					LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S|LONRF3_ENST00000371628.3_Missense_Mutation_p.A513S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S	p.A472S			Q496Y0	LONF3_HUMAN			6	1577	+			513					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1414G>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.889486|2.889486	0.52014|0.52014	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;D|.	0.84370|.	-1.37;-1.37;-1.16;-1.84|.	6.08|6.08	0.613|0.613	0.17597|0.17597	Zinc finger, RING/FYVE/PHD-type (1);|.	0.393637|.	0.28130|.	N|.	0.016488|.	T|T	0.43055|0.43055	0.1230|0.1230	L|L	0.41356|0.41356	1.27|1.27	0.38421|0.38421	D|D	0.946177|0.946177	B;B;B|.	0.31209|.	0.031;0.313;0.071|.	B;B;B|.	0.38500|.	0.051;0.275;0.089|.	T|T	0.25710|0.25710	-1.0124|-1.0124	10|5	0.20519|.	T|.	0.43|.	-30.4149|-30.4149	4.3144|4.3144	0.10986|0.10986	0.1997:0.1045:0.579:0.1168|0.1997:0.1045:0.579:0.1168	.|.	257;472;513|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	S|V	472;472;513;257|278	ENSP00000360691:A472S;ENSP00000307732:A472S;ENSP00000360690:A513S;ENSP00000408894:A257S|.	ENSP00000307732:A472S|.	A|G	+|+	1|2	0|0	LONRF3|LONRF3	118027123|118027123	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.947000|0.947000	0.59692|0.59692	3.533000|3.533000	0.53561|0.53561	0.022000|0.022000	0.15160|0.15160	0.600000|0.600000	0.82982|0.82982	GCA|GGC		0.378	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		38	104	1	0	3.09479e-21	1	3.40427e-21	38	104					T	118143095	G	T	118143095	3	4	8	1	0	0	0	0	1	0	0	0	8896	1203	42	5	1563	5	LONRF3	23	118143095	Missense_Mutation	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08		118143095	37127465	23	154										
GPR50	9248	broad.mit.edu	37	chrX	150345211	150345211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	aacatggggcccaccctagcGgttcccaccccctatggctg	10	17	0	0			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:150345211G>A	ENST00000218316.3	+	1	87	c.18G>A	c.(16-18)gcG>gcA	p.A6A	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	6					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTAGCGGTTCCCACCC	0.557																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(16-18)gcG>gcA		G protein-coupled receptor 50							67	70	69					X																	150345211		1931	4111	6042	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345211G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.18G>A	X.37:g.150345211G>A						GPR50-AS1_ENST00000454196.1_RNA	p.A6A	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	87	+	Acute lymphoblastic leukemia(192;6.56e-05)		6					Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.18G>A	CCDS44012.1																																																																																				0.557	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		4	112	0	0	0	1	0	4	112					A	150345211	G	A	150345211	2	1	8	1	0	0	0	0	0	0	0	1	6697	1103	39	2		2	GPR50	23	150345211	Silent	SNP	G	TCGA-PR-A5PG-01A-11D-A35D-08	32202116	150345211	4925349	24	155										
F8	2157	broad.mit.edu	37	chrX	154159643	154159643	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.08	2	1	1.32323232323232	0	1.76430976430976	0.333333333333333	1	0	tcgcaagagcatcaacaaatCactagaggagacattttgta	8	8	2	3			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:154159643C>T	ENST00000360256.4	-	14	2622	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	808	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCAACAAATCACTAGAGGAG	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(2422-2424)Gat>Aat		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						231	213	219					X																	154159643		2203	4299	6502	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159643C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2422G>A	X.37:g.154159643C>T	ENSP00000353393:p.Asp808Asn						p.D808N	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	2622	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		808			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2422G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427156	0.11987	.	.	ENSG00000185010	ENST00000360256	D	0.99252	-5.63	5.32	4.42	0.53409	.	0.985888	0.08306	N	0.966177	D	0.98077	0.9366	M	0.67953	2.075	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	D	0.93593	0.6923	10	0.11485	T	0.65	-9.1674	12.2242	0.54451	0.0:0.8341:0.1659:0.0	.	808	P00451	FA8_HUMAN	N	808	ENSP00000353393:D808N	ENSP00000353393:D808N	D	-	1	0	F8	153812837	0.032000	0.19561	0.086000	0.20670	0.094000	0.18550	0.990000	0.29642	2.227000	0.72691	0.422000	0.28245	GAT		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			67	90	0	0	0	1	0	67	90					T	154159643	C	T	154159643	3	4	8	1	0	0	0	0	1	0	0	0	5350	826	29	3	4713	3	F8	23	154159643	Missense_Mutation	SNP	C	TCGA-PR-A5PG-01A-11D-A35D-08	3814432	154159643	1110917	25	156										
COL9A2	1298	broad.mit.edu	37	chr1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG													0	0	1	0	0	0	1	1	0	cgacctctgccagttgctctINSggagggagggagggagggag					rs3831927|rs547665409|rs369338511|rs144651070|rs563535301	byFrequency	TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e30-2		collagen, type IX, alpha 2																																				SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40768483_40768484insGGAG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1604-2->CTCC	1.37:g.40768488_40768491dupGGAG						COL9A2_ENST00000466267.1_Splice_Site		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		30	1700	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RMP9	Splice_Site	INS	ENST00000372748.3	37		CCDS450.1																																																																																				0.649	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	3	3						3	3	---	---	---	---	GGAG	40768484	-	GGAG	40768483	8	5	9	1	0	1	1	0	0	0	1	0	3708	1594	55	0	479	0	COL9A2	1	40768483	Splice_Site	INS	-	TCGA-PR-A5PH-01A-11D-A35D-08		40768483	208482138	1	157										
CDKN2C	1031	broad.mit.edu	37	chr1	51439844	51439844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggggcatcggaaccataagGgggacaccgcctgtgatttg	15	9	0	1			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:51439844G>A	ENST00000262662.1	+	4	2443	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	137					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GAACCATAAGGGGGACACCGC	0.577			D		"glioma, MM"																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"			"O, L"			"glioma, MM"		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(409-411)Ggg>Agg		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							54	58	56					1																	51439844		2203	4300	6503	SO:0001583	missense	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439844G>A	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"Ankyrin repeat domain containing"	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.409G>A	1.37:g.51439844G>A	ENSP00000262662:p.Gly137Arg					CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R	p.G137R			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2443	+			137					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.409G>A	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128289	0.94473	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.71579	-0.58;-0.58;-0.58	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79841	-0.1633	10	0.66056	D	0.02	-10.3359	20.1338	0.98010	0.0:0.0:1.0:0.0	.	137	P42773	CDN2C_HUMAN	R	137	ENSP00000262662:G137R;ENSP00000379452:G137R;ENSP00000360826:G137R	ENSP00000262662:G137R	G	+	1	0	CDKN2C	51212432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.317000	0.89987	2.770000	0.95276	0.655000	0.94253	GGG		0.577	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		10	13	0	0	0	1	0	10	13					A	51439844	G	A	51439844	3	1	9	1	0	0	0	0	1	0	0	0	3165	1232	43	3	415	3	CDKN2C	1	51439844	Missense_Mutation	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08	10671361	51439844	197810777	2	158										
LMNA	4000	broad.mit.edu	37	chr1	156106111	156106111	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaccaaaaagcgcaaactgGagtccactgagagccgcagc	10	13	1	1			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:156106111G>T	ENST00000368300.4	+	7	1476	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310*|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	422	Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCGCAAACTGGAGTCCACTGA	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1264-1266)Gag>Tag		lamin A/C							50	53	52					1																	156106111		2203	4300	6503	SO:0001587	stop_gained	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156106111G>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1264G>T	1.37:g.156106111G>T	ENSP00000357283:p.Glu422*					LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310*	p.E422*	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			7	1476	+	Hepatocellular(266;0.158)		422			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Nonsense_Mutation	SNP	ENST00000368300.4	37	c.1264G>T	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527053	0.85706	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	.	.	.	5.74	5.74	0.90152	.	0.198435	0.33127	N	0.005256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.4233	0.87520	0.0:0.0:1.0:0.0	.	.	.	.	X	422;422;422;422;422;422;422;310;341;323;341;48	.	ENSP00000292302:E422X	E	+	1	0	LMNA	154372735	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	6.716000	0.74702	2.695000	0.91970	0.655000	0.94253	GAG		0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		14	31	1	0	9.05144e-12	1	9.39957e-12	14	31					T	156106111	G	T	156106111	4	4	9	1	0	0	0	0	0	1	0	0	8848	1175	41	5	1290	5	LMNA	1	156106111	Nonsense_Mutation	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08	104666267	156106111	93144510	3	159										
DGUOK	1716	broad.mit.edu	37	chr2	74154050	74154050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggtgggatggccgcgggcCgcctctttctaagtcggctt	16	11	2	0			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:74154050C>T	ENST00000264093.4	+	1	98	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	5					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GGCCGCGGGCCGCCTCTTTCT	0.657																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(13-15)Cgc>Tgc		deoxyguanosine kinase							45	42	43					2																	74154050		2203	4300	6503	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154050C>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.13C>T	2.37:g.74154050C>T	ENSP00000264093:p.Arg5Cys					DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C|DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000462685.1_3'UTR	p.R5C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			1	98	+			5					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.13C>T	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766906	0.69878	.	.	ENSG00000114956	ENST00000264093;ENST00000348222;ENST00000356837;ENST00000347161	D;D;D	0.99574	-5.48;-4.94;-6.2	4.3	-1.26	0.09376	.	0.000000	0.64402	D	0.000009	D	0.98479	0.9493	M	0.67953	2.075	0.09310	N	1	D;D	0.64830	0.994;0.99	P;P	0.47744	0.556;0.556	D	0.96664	0.9491	10	0.87932	D	0	-6.3541	3.298	0.06973	0.5251:0.252:0.1315:0.0914	.	5;5	E5KSL6;Q16854	.;DGUOK_HUMAN	C	5	ENSP00000264093:R5C;ENSP00000306964:R5C;ENSP00000349294:R5C	ENSP00000264093:R5C	R	+	1	0	DGUOK	74007558	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	0.087000	0.14958	-0.256000	0.09473	0.655000	0.94253	CGC		0.657	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			13	23	0	0	0	1	0	13	23					T	74154050	C	T	74154050	3	4	9	1	0	0	0	0	1	0	0	0	4475	652	23	2	15	2	DGUOK	2	74154050	Missense_Mutation	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08		74154050	169045323	4	160										
ACTR1B	10120	broad.mit.edu	37	chr2	98275013	98275013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtccacccgcatgatggaGtgaggcatggcaaagccctc	12	12	0	2			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:98275013G>A	ENST00000289228.5	-	6	750	c.534C>T	c.(532-534)caC>caT	p.H178H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	178					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCATGATGGAGTGAGGCATGG	0.602																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(532-534)caC>caT		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							172	150	157					2																	98275013		2203	4300	6503	SO:0001819	synonymous_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275013G>A	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.534C>T	2.37:g.98275013G>A							p.H178H	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			6	750	-			178					D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	c.534C>T	CCDS2033.1																																																																																				0.602	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		27	42	0	0	0	1	0	27	42					A	98275013	G	A	98275013	2	1	9	1	0	0	0	0	0	0	0	1	210	1020	36	3		3	ACTR1B	2	98275013	Silent	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08	24120963	98275013	144924360	5	161										
MERTK	10461	broad.mit.edu	37	chr2	112755020	112755020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattttatacatctccttggCcatcagaaaaagagtccagg	8	9	2	2			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:112755020C>T	ENST00000295408.4	+	10	1828	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	MERTK_ENST00000421804.2_Missense_Mutation_p.A524V|MERTK_ENST00000409780.1_Missense_Mutation_p.A348V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	524					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATCTCCTTGGCCATCAGAAAA	0.433																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1570-1572)gCc>gTc		c-mer proto-oncogene tyrosine kinase							108	97	101					2																	112755020		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112755020C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1571C>T	2.37:g.112755020C>T	ENSP00000295408:p.Ala524Val					MERTK_ENST00000409780.1_Missense_Mutation_p.A348V|MERTK_ENST00000421804.2_Missense_Mutation_p.A524V	p.A524V			Q12866	MERTK_HUMAN			10	1828	+			524					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1571C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.179040	0.01633	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.73469	-0.75;-0.75;-0.74	5.84	4.01	0.46588	.	0.249863	0.20639	N	0.088433	T	0.56124	0.1964	N	0.20685	0.6	0.27182	N	0.96064	B	0.02656	0.0	B	0.06405	0.002	T	0.41395	-0.9511	10	0.22706	T	0.39	-17.8574	8.6435	0.33991	0.0:0.8179:0.0:0.1821	.	524	Q12866	MERTK_HUMAN	V	524;524;166;348	ENSP00000295408:A524V;ENSP00000389152:A524V;ENSP00000387277:A348V	ENSP00000295408:A524V	A	+	2	0	MERTK	112471491	1.000000	0.71417	0.999000	0.59377	0.069000	0.16628	1.495000	0.35627	0.883000	0.36040	0.637000	0.83480	GCC		0.433	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	85	0	0	0	1	0	4	85					T	112755020	C	T	112755020	3	4	9	1	0	0	0	0	1	0	0	0	9479	739	26	3	1609	3	MERTK	2	112755020	Missense_Mutation	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08	14480007	112755020	130444353	6	162										
MYLK	4638	broad.mit.edu	37	chr3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagccgcagtgctcctggcGcgcggccaggatggtgagct	17	13	0	1	rs368321325		TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr3:123383036G>A	ENST00000475616.1	-	20	3900	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3901-3903)Cgc>Tgc		myosin light chain kinase		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	137	131	133		3901,3694,3901,3694	2.8	0.7	3		133	0,8600		0,0,4300	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/1915,1232/1846,1301/1864,1232/1795	123383036	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383036G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3901C>T	3.37:g.123383036G>A	ENSP00000418335:p.Arg1301Cys					MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C	p.R1301C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4279	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3901C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163382	0.38217	2.27E-4	0.0	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.86	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68997	0.3062	L	0.36672	1.1	0.42021	D	0.990989	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.999	P;D;P;P;D	0.65233	0.854;0.933;0.873;0.864;0.91	T	0.68708	-0.5337	9	0.54805	T	0.06	.	8.9629	0.35858	0.0919:0.0:0.7154:0.1927	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	C	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C	ENSP00000320622:R1232C	R	-	1	0	MYLK	124865726	0.571000	0.26659	0.739000	0.30968	0.887000	0.51463	0.646000	0.24797	1.056000	0.40484	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	114	0	0	0	1	0	4	114					A	123383036	G	A	123383036	3	1	9	1	0	0	0	0	1	0	0	0	10056	1087	38	1	1891	1	MYLK	3	123383036	Missense_Mutation	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08		123383036	74639394	7	163										
ATP13A4	84239	broad.mit.edu	37	chr3	193183900	193183900	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggaacctgatggcatcccTgtacaactgaaaattcactg	9	10	1	2			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr3:193183900T>C	ENST00000342695.4	-	11	1508	c.1186A>G	c.(1186-1188)Agg>Ggg	p.R396G	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	396						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGGCATCCCTGTACAACTGA	0.478																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(1186-1188)Agg>Ggg		ATPase type 13A4							263	242	249					3																	193183900		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193183900T>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1186A>G	3.37:g.193183900T>C	ENSP00000339182:p.Arg396Gly					ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G	p.R396G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	11	1508	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		396					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1186A>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903594	0.72754	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.91464	-2.85;-2.85;-2.85	5.85	4.66	0.58398	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.89414	3.03	0.46981	D	0.999277	P;B;P	0.40553	0.721;0.426;0.494	B;B;B	0.43155	0.281;0.381;0.41	D	0.91601	0.5295	10	0.59425	D	0.04	-27.0704	11.2104	0.48795	0.0:0.0:0.2936:0.7064	.	396;396;396	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	G	396	ENSP00000376238:R396G;ENSP00000339182:R396G;ENSP00000295548:R396G	ENSP00000295548:R396G	R	-	1	2	ATP13A4	194666594	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.014000	0.64029	1.009000	0.39289	0.533000	0.62120	AGG		0.478	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		81	126	0	0	0	1	0	81	126					C	193183900	T	C	193183900	3	2	9	1	0	0	0	0	1	0	0	0	1126	1579	55	4	2484	4	ATP13A4	3	193183900	Missense_Mutation	SNP	T	TCGA-PR-A5PH-01A-11D-A35D-08	69800864	193183900	4838530	8	164										
PTPN13	5783	broad.mit.edu	37	chr4	87701607	87701607	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtctgctgtttcagctccaAagtcaaccaaaggcaatggt	10	10	3	0			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr4:87701607A>G	ENST00000411767.2	+	36	6007	c.5944A>G	c.(5944-5946)Aag>Gag	p.K1982E	PTPN13_ENST00000511467.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1982					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCAGCTCCAAAGTCAaccaa	0.403																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5959-5961)Aag>Gag		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							71	69	70					4																	87701607		1885	4110	5995	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87701607A>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5944A>G	4.37:g.87701607A>G	ENSP00000407249:p.Lys1982Glu					PTPN13_ENST00000411767.2_Missense_Mutation_p.K1982E|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E	p.K1987E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	36	6439	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1982					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5959A>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398709	0.25205	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.52057	0.68;0.71;0.78;0.68;0.71	5.16	-1.48	0.08745	.	0.815284	0.10462	N	0.671874	T	0.36580	0.0972	L	0.53249	1.67	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.004;0.002;0.004	T	0.27673	-1.0067	10	0.36615	T	0.2	.	4.8017	0.13299	0.4857:0.1643:0.35:0.0	.	1791;1963;1982;1987	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	E	1963;1987;1791;1982;1987;1931	ENSP00000408368:K1963E;ENSP00000394794:K1987E;ENSP00000322675:K1791E;ENSP00000407249:K1982E;ENSP00000426626:K1987E	ENSP00000322675:K1791E	K	+	1	0	PTPN13	87920631	0.000000	0.05858	0.001000	0.08648	0.858000	0.48976	-0.547000	0.06055	-0.480000	0.06803	0.477000	0.44152	AAG		0.403	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	15	0	0	0	1	0	6	15					G	87701607	A	G	87701607	3	3	9	1	0	0	0	0	1	0	0	0	12782	15	1	4	6097	4	PTPN13	4	87701607	Missense_Mutation	SNP	A	TCGA-PR-A5PH-01A-11D-A35D-08		87701607	103452669	9	165										
FAM105B	90268	broad.mit.edu	37	chr5	14690382	14690382	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacagcttctgaggaaccacCtcaaccaggtgggacacact	10	13	2	1			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr5:14690382C>G	ENST00000284274.4	+	6	907	c.829C>G	c.(829-831)Ctc>Gtc	p.L277V		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		277	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GAGGAACCACCTCAACCAGGT	0.423																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(829-831)Ctc>Gtc		family with sequence similarity 105, member B							67	64	65					5																	14690382		1930	4145	6075	SO:0001583	missense	90268							g.chr5:14690382C>G																												ENST00000284274.4:c.829C>G	5.37:g.14690382C>G	ENSP00000284274:p.Leu277Val						p.L277V	NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			6	907	+	Lung NSC(4;0.00696)		277					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.829C>G	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048607	0.75846	.	.	ENSG00000154124	ENST00000284274	T	0.19394	2.15	6.07	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.78049	2.395	0.51233	D	0.999919	D	0.89917	1.0	D	0.83275	0.996	T	0.32025	-0.9922	9	.	.	.	-12.4511	7.2649	0.26224	0.0:0.668:0.0:0.332	.	277	Q96BN8	F105B_HUMAN	V	277	ENSP00000284274:L277V	.	L	+	1	0	FAM105B	14743382	1.000000	0.71417	0.908000	0.35775	0.951000	0.60555	2.585000	0.46111	1.585000	0.49928	0.655000	0.94253	CTC		0.423	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			20	44	0	0	0	1	0	20	44					G	14690382	C	G	14690382	3	3	9	1	0	0	0	0	1	0	0	0	5388	681	24	5	851	5	FAM105B	5	14690382	Missense_Mutation	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08		14690382	166224878	10	166										
FAM162B	221303	broad.mit.edu	37	chr6	117086577	117086577	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ccctggctcaccgtgaccttGgggcccagaattgctggggg							TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr6:117086577delG	ENST00000368557.4	-	1	309	c.163delC	c.(163-165)caafs	p.Q55fs		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	55						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						CCGTGACCTTGGGGCCCAGAA	0.766																																						ENST00000368557.4																			0				large_intestine(2)|lung(4)	6						c.(163-165)aafs		family with sequence similarity 162, member B							4	5	5					6																	117086577		1756	3947	5703	SO:0001589	frameshift_variant	221303					integral to membrane		g.chr6:117086577delG	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 189"	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.163delC	6.37:g.117086577delG	ENSP00000357545:p.Gln55fs						p.Q55fs	NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN			1	309	-			55					Q8IXW8	Frame_Shift_Del	DEL	ENST00000368557.4	37	c.163delC	CCDS43497.1																																																																																				0.766	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		2	4						2	4	---	---	---	---	-	117086577	G	-	117086577	7	5	9	1	0	1	0	1	0	0	0	0	5475	1357	47	0	341	0	FAM162B	6	117086577	Frame_Shift_Del	DEL	G	TCGA-PR-A5PH-01A-11D-A35D-08		117086577	54028490	11	167										
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggttcagccccccgagaccAcccgccccgagccacccccg	10	23	1	1			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8	10	9					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		7	11	0	0	0	1	0	7	11					C	134218293	A	C	134218293	3	2	9	1	0	0	0	0	1	0	0	0	12846	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-PR-A5PH-01A-11D-A35D-08		134218293	1316454	12	168										
OR8J3	81168	broad.mit.edu	37	chr11	55904696	55904696	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatattagaagagcaataagAcacagagaatatacaaggtg	9	4	0	4	rs556840660		TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr11:55904696A>G	ENST00000301529.1	-	1	498	c.499T>C	c.(499-501)Tct>Cct	p.S167P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGCAATAAGACACAGAGAAT	0.413																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(499-501)Tct>Cct		olfactory receptor, family 8, subfamily J, member 3							91	89	90					11																	55904696		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904696A>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.499T>C	11.37:g.55904696A>G	ENSP00000301529:p.Ser167Pro						p.S167P	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	498	-	Esophageal squamous(21;0.00693)		167					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.499T>C	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843530	0.32606	.	.	ENSG00000167822	ENST00000301529	T	0.36699	1.24	3.26	-0.942	0.10398	GPCR, rhodopsin-like superfamily (1);	0.192468	0.37715	N	0.001966	T	0.33265	0.0857	L	0.28400	0.85	0.09310	N	1	D	0.54397	0.966	P	0.62885	0.908	T	0.16837	-1.0389	10	0.59425	D	0.04	.	0.9624	0.01398	0.359:0.3153:0.171:0.1548	.	167	Q8NGG0	OR8J3_HUMAN	P	167	ENSP00000301529:S167P	ENSP00000301529:S167P	S	-	1	0	OR8J3	55661272	0.000000	0.05858	0.099000	0.21106	0.761000	0.43186	-1.434000	0.02425	-0.124000	0.11724	0.240000	0.17902	TCT		0.413	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		4	62	0	0	0	1	0	4	62					G	55904696	A	G	55904696	3	3	9	1	0	0	0	0	1	0	0	0	11242	275	10	4	450	4	OR8J3	11	55904696	Missense_Mutation	SNP	A	TCGA-PR-A5PH-01A-11D-A35D-08		55904696	79101820	13	169										
DOCK9	23348	broad.mit.edu	37	chr13	99538837	99538837	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtaaaactgcagcaaaggcGcttcttgtgaaaactggccc	10	10	1	1			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr13:99538837G>A	ENST00000376460.1	-	19	2165	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	DOCK9_ENST00000448493.2_Silent_p.S707S|DOCK9_ENST00000339416.2_Silent_p.S696S|DOCK9_ENST00000442173.1_Silent_p.S695S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	696	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAAAGGCGCTTCTTGTGA	0.383																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2083-2085)agC>agT		dedicator of cytokinesis 9							77	76	76					13																	99538837		1853	4096	5949	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99538837G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2085C>T	13.37:g.99538837G>A						DOCK9_ENST00000442173.1_Silent_p.S695S|DOCK9_ENST00000339416.2_Silent_p.S696S|DOCK9_ENST00000448493.2_Silent_p.S707S	p.S695S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			19	2165	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		696			DHR-1.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2085C>T	CCDS45062.1																																																																																				0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		15	20	0	0	0	1	0	15	20					A	99538837	G	A	99538837	2	1	9	1	0	0	0	0	0	0	0	1	4694	1078	38	1		1	DOCK9	13	99538837	Silent	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08		99538837	15631041	14	170										
IGDCC4	57722	broad.mit.edu	37	chr15	65689295	65689295	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	tagtaggttggtgcggcccaGgacgatgacatctgtggaga							TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr15:65689295delG	ENST00000352385.2	-	6	1083	c.874delC	c.(874-876)ctgfs	p.L292fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	292	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGCGGCCCAGGACGATGACA	0.652																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(874-876)tgfs		immunoglobulin superfamily, DCC subclass, member 4							39	37	37					15																	65689295		2189	4295	6484	SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65689295delG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.874delC	15.37:g.65689295delG	ENSP00000319623:p.Leu292fs						p.L292fs	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			6	1083	-			292			Ig-like C2-type 3.		Q9HCE4	Frame_Shift_Del	DEL	ENST00000352385.2	37	c.874delC	CCDS10206.1																																																																																				0.652	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		2	4						2	4	---	---	---	---	-	65689295	G	-	65689295	7	5	9	1	0	1	0	1	0	0	0	0	7569	991	35	0	2938	0	IGDCC4	15	65689295	Frame_Shift_Del	DEL	G	TCGA-PR-A5PH-01A-11D-A35D-08		65689295	36842097	15	171										
SLC46A1	113235	broad.mit.edu	37	chr17	26731690	26731690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaccaccatccccaggatgTtgaaggccaggccgatctca	10	14	1	2			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr17:26731690T>C	ENST00000440501.1	-	2	1120	c.1025A>G	c.(1024-1026)aAc>aGc	p.N342S	CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	342					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CCCCAGGATGTTGAAGGCCAG	0.597																																						ENST00000440501.1																			0				lung(5)	5						c.(1024-1026)aAc>aGc		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						47	48	48					17																	26731690		2044	4192	6236	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731690T>C	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1025A>G	17.37:g.26731690T>C	ENSP00000395653:p.Asn342Ser					SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S|SLC46A1_ENST00000584729.1_5'UTR	p.N342S	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	1120	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		342					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.1025A>G		.	.	.	.	.	.	.	.	.	.	T	9.505	1.104189	0.20632	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.79653	-1.29;-1.29	5.05	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	.	.	.	0.58432	D	0.999997	B;P;P	0.45126	0.049;0.663;0.851	B;B;P	0.45474	0.069;0.243;0.482	T	0.74087	-0.3778	9	0.20519	T	0.43	-18.6636	14.8039	0.69938	0.0:0.0:0.0:1.0	.	342;342;342	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	S	342	ENSP00000395653:N342S;ENSP00000318828:N342S	ENSP00000318828:N342S	N	-	2	0	SLC46A1	23755817	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.904000	0.69886	1.898000	0.54952	0.460000	0.39030	AAC		0.597	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		8	13	0	0	0	1	0	8	13					C	26731690	T	C	26731690	3	2	9	1	0	0	0	0	1	0	0	0	14644	1725	60	4	371	4	SLC46A1	17	26731690	Missense_Mutation	SNP	T	TCGA-PR-A5PH-01A-11D-A35D-08		26731690	54463520	16	172										
ZNF574	64763	broad.mit.edu	37	chr19	42584207	42584207	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggccttgcagctgacccgGcaccaacgttttgtgcatcg	11	13	0	1			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr19:42584207G>A	ENST00000600245.1	+	2	2104	c.1449G>A	c.(1447-1449)cgG>cgA	p.R483R	ZNF574_ENST00000359044.4_Silent_p.R483R|ZNF574_ENST00000222339.7_Silent_p.R573R|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCTGACCCGGCACCAACGTT	0.597																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1447-1449)cgG>cgA		zinc finger protein 574							74	83	80					19																	42584207		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584207G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1449G>A	19.37:g.42584207G>A						ZNF574_ENST00000359044.4_Silent_p.R483R|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.R573R	p.R483R			Q6ZN55	ZN574_HUMAN			2	2104	+		Prostate(69;0.059)	483					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.1449G>A	CCDS12596.1																																																																																				0.597	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		4	105	0	0	0	1	0	4	105					A	42584207	G	A	42584207	2	1	9	1	0	0	0	0	0	0	0	1	18003	1190	42	3		3	ZNF574	19	42584207	Silent	SNP	G	TCGA-PR-A5PH-01A-11D-A35D-08		42584207	16544776	17	173										
PCDH11Y	83259	broad.mit.edu	37	chrY	4968046	4968046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcgtgaatgagtcagtgacCaatgctacactgattaatga	9	7	1	5			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chrY:4968046C>T	ENST00000333703.4	+	5	2907	c.2394C>T	c.(2392-2394)acC>acT	p.T798T	PCDH11Y_ENST00000362095.5_Silent_p.T809T|PCDH11Y_ENST00000215473.6_Silent_p.T809T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	809	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGTGACCAATGCTACAC	0.423																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2392-2394)acC>acT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968046C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2394C>T	Y.37:g.4968046C>T						PCDH11Y_ENST00000215473.6_Silent_p.T809T|PCDH11Y_ENST00000362095.5_Silent_p.T809T	p.T798T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2907	+			809			Cadherin 7.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.2394C>T	CCDS14776.1																																																																																				0.423	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		4	73	0	0	0	1	0	4	73					T	4968046	C	T	4968046	2	4	9	1	0	0	0	0	0	0	0	1	11509	581	21	3		3	PCDH11Y	24	4968046	Silent	SNP	C	TCGA-PR-A5PH-01A-11D-A35D-08		4968046	54405520	18	174										
TP63	8626	broad.mit.edu	37	chr3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcagggagctgttatccgcGccatgcctgtctacaaaaaa	9	12	2	0			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(679-681)Gcc>Acc		tumor protein p63							123	120	121					3																	189582120		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582120G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.679G>A	3.37:g.189582120G>A	ENSP00000264731:p.Ala227Thr	HNSCC(45;0.13)				TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T	p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	768	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		227					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.679G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	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	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	TP63	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		6	76	0	0	0	1	0	6	76					A	189582120	G	A	189582120	3	1	10	1	0	0	0	0	1	0	0	0	16389	1087	38	1	743	1	TP63	3	189582120	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08		189582120	8440310	1	175										
LETM1	3954	broad.mit.edu	37	chr4	1816225	1816225	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcctccaccttctcctcttTttccagtgttgctacaatct	3	16	3	0			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:1816225T>C	ENST00000302787.2	-	14	2442	c.2146A>G	c.(2146-2148)Aaa>Gaa	p.K716E		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	716					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ttctcctCTTTTTCCAGTGTT	0.542																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(2146-2148)Aaa>Gaa		leucine zipper-EF-hand containing transmembrane protein 1							190	151	164					4																	1816225		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1816225T>C	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"EF-hand domain containing"	6556	protein-coding gene	gene with protein product	"Mdm38 homolog (yeast)"	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.2146A>G	4.37:g.1816225T>C	ENSP00000305653:p.Lys716Glu						p.K716E	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		14	2442	-			716					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.2146A>G	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	t	18.58	3.655309	0.67472	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.84	4.84	0.62591	.	0.067076	0.64402	D	0.000020	T	0.80019	0.4547	M	0.85041	2.73	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.83543	0.0097	9	0.72032	D	0.01	-34.7907	13.4106	0.60940	0.0:0.0:0.0:1.0	.	716	O95202	LETM1_HUMAN	E	716	.	ENSP00000305653:K716E	K	-	1	0	LETM1	1786023	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.486000	0.66856	1.809000	0.52856	0.533000	0.62120	AAA		0.542	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			4	32	0	0	0	1	0	4	32					C	1816225	T	C	1816225	3	2	10	1	0	0	0	0	1	0	0	0	8734	1850	64	4	77	4	LETM1	4	1816225	Missense_Mutation	SNP	T	TCGA-QR-A6GO-01A-11D-A35D-08		1816225	189338051	2	176										
STIM2	57620	broad.mit.edu	37	chr4	27024340	27024340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggggttctcccgactgtgtaGgtctgacagaaactaagagt	13	8	2	3			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr4:27024340G>A	ENST00000467087.1	+	12	2491	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000382009.3_Missense_Mutation_p.G750S|STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000467011.1_3'UTR			Q9P246	STIM2_HUMAN	stromal interaction molecule 2	655					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGACTGTGTAGGTCTGACAGA	0.483																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2248-2250)Ggt>Agt		stromal interaction molecule 2							141	131	134					4																	27024340		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27024340G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467087.1:c.1963G>A	4.37:g.27024340G>A	ENSP00000419073:p.Gly655Ser					STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000465503.1_Missense_Mutation_p.G663S|STIM2_ENST00000237364.5_Missense_Mutation_p.G742S|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000467087.1_Missense_Mutation_p.G655S	p.G750S	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			13	2515	+		Breast(46;0.0503)	655					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467087.1	37	c.2248G>A	CCDS3440.2	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828356	0.50845	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000465503	T;T;T;T	0.76316	-0.97;-1.01;-1.01;-0.98	5.87	5.87	0.94306	.	0.195744	0.46145	D	0.000319	T	0.80874	0.4707	N	0.17082	0.46	0.80722	D	1	D;D	0.65815	0.991;0.995	P;D	0.66196	0.876;0.942	T	0.82678	-0.0338	10	0.66056	D	0.02	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	750;742	E9PGD0;F5GXJ4	.;.	S	655;750;742;663	ENSP00000419073:G655S;ENSP00000371439:G750S;ENSP00000237364:G742S;ENSP00000417569:G663S	ENSP00000237364:G742S	G	+	1	0	STIM2	26633438	1.000000	0.71417	0.834000	0.33040	0.815000	0.46073	5.406000	0.66357	2.941000	0.99782	0.655000	0.94253	GGT		0.483	STIM2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215063.2	NM_020860		4	120	0	0	0	1	0	4	120					A	27024340	G	A	27024340	3	1	10	1	0	0	0	0	1	0	0	0	15283	1000	35	3	2078	3	STIM2	4	27024340	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08	25208115	27024340	164129936	3	177										
ZNF425	155054	broad.mit.edu	37	chr7	148802161	148802162	+	Frame_Shift_Ins	INS	-	-	GA													0	0	1	0	NA	0	1	1	0	tagggccgctggccggtgtgINSgacaacctgatgagtgacga							TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr7:148802161_148802162insGA	ENST00000378061.2	-	4	933_934	c.801_802insTC	c.(799-804)gtccacfs	p.H268fs		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	268					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGCCGGTGTGGACAACCTGAT	0.619																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(799-804)gtacacfs		zinc finger protein 425																																				SO:0001589	frameshift_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802161_148802162insGA	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.800_801dupTC	7.37:g.148802162_148802163dupGA	ENSP00000367300:p.His268fs						p.VH267fs	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	933_934	-	Melanoma(164;0.15)		267					B3KPM1|Q08AG3	Frame_Shift_Ins	INS	ENST00000378061.2	37	c.801_802insTC	CCDS34773.1																																																																																				0.619	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		17	67						17	67	---	---	---	---	GA	148802162	-	GA	148802161	7	5	10	1	0	1	1	0	0	0	0	0	17896	1348	47	0	1460	0	ZNF425	7	148802161	Frame_Shift_Ins	INS	-	TCGA-QR-A6GO-01A-11D-A35D-08		148802161	10336502	4	178										
ASPH	444	broad.mit.edu	37	chr8	62596684	62596684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgcaatcaccataaaccacGtgaagaatgaagttcctgag	8	9	1	4	rs149440176		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr8:62596684G>A	ENST00000379454.4	-	2	354	c.167C>T	c.(166-168)aCg>aTg	p.T56M	ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000541428.1_Missense_Mutation_p.T27M|ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000517856.1_Missense_Mutation_p.T56M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	56					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATAAACCACGTGAAGAATGA	0.403																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(79-81)aCg>aTg		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	173	150	158		80,80,80,80,167,167,167,167,80,167,80,80	6.1	1	8	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	ASPH	NM_001164750.1,NM_001164751.1,NM_001164752.1,NM_001164753.1,NM_001164754.1,NM_001164755.1,NM_001164756.1,NM_004318.3,NM_020164.4,NM_032466.3,NM_032467.3,NM_032468.4	81,81,81,81,81,81,81,81,81,81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	27/730,27/299,27/280,27/257,56/295,56/271,56/204,56/759,27/226,56/314,27/211,27/300	62596684	1,13005	2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62596684G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.167C>T	8.37:g.62596684G>A	ENSP00000368767:p.Thr56Met					ASPH_ENST00000517847.2_Missense_Mutation_p.T27M|ASPH_ENST00000517661.1_Missense_Mutation_p.T27M|ASPH_ENST00000445642.3_Missense_Mutation_p.T27M|ASPH_ENST00000379454.4_Missense_Mutation_p.T56M|ASPH_ENST00000379449.6_Missense_Mutation_p.T56M|ASPH_ENST00000356457.5_Missense_Mutation_p.T56M|ASPH_ENST00000522603.1_Missense_Mutation_p.T27M|ASPH_ENST00000517903.1_Missense_Mutation_p.T27M|ASPH_ENST00000517856.1_Missense_Mutation_p.T56M|ASPH_ENST00000389204.4_Missense_Mutation_p.T27M|ASPH_ENST00000522835.1_Missense_Mutation_p.T27M|ASPH_ENST00000518068.1_Missense_Mutation_p.T56M	p.T27M	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			2	240	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	56			Ser-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.80C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845199	0.91197	0.0	1.16E-4	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306;ENST00000517856;ENST00000389204;ENST00000522603;ENST00000379449;ENST00000517661	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	6.07	6.07	0.98685	Aspartyl beta-hydroxylase/Triadin domain (1);	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	T	0.78846	-0.2043	10	0.87932	D	0	-15.3117	20.6593	0.99626	0.0:0.0:1.0:0.0	.	27;27;56;27;27;27;27;56;56;56;56;56;27;56	Q12797-4;Q12797-3;B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;E5RG56;Q6NXR7;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;.;.;.;.;ASPH_HUMAN	M	56;27;56;27;56;56;56;27;27;27;27;27;56;27;27;56;27	ENSP00000437864:T27M;ENSP00000368767:T56M;ENSP00000429718:T27M;ENSP00000348841:T56M;ENSP00000427823:T56M;ENSP00000429286:T56M;ENSP00000430245:T27M;ENSP00000394013:T27M;ENSP00000429954:T27M;ENSP00000429160:T27M;ENSP00000427877:T27M;ENSP00000429743:T56M;ENSP00000373856:T27M;ENSP00000436188:T27M;ENSP00000368762:T56M;ENSP00000428060:T27M	ENSP00000348841:T56M	T	-	2	0	ASPH	62759238	1.000000	0.71417	0.971000	0.41717	0.833000	0.47200	9.242000	0.95408	2.885000	0.99019	0.655000	0.94253	ACG		0.403	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		9	113	0	0	0	1	0	9	113					A	62596684	G	A	62596684	3	1	10	1	0	0	0	0	1	0	0	0	1053	1145	40	1	2921	1	ASPH	8	62596684	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08		62596684	83767338	5	179										
TSPAN32	10077	broad.mit.edu	37	chr11	2337870	2337870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgtggctgcagcttggaccGcaagggcaaatacaccctga	12	12	0	1			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:2337870G>A	ENST00000182290.4	+	8	829	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H|TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	231					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGCTTGGACCGCAAGGGCAAA	0.667																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(691-693)cGc>cAc		tetraspanin 32							104	84	91					11																	2337870		2202	4299	6501	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2337870G>A	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.692G>A	11.37:g.2337870G>A	ENSP00000182290:p.Arg231His					TSPAN32_ENST00000451520.2_Missense_Mutation_p.R220H|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R231H	p.R231H	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	829	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	231					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.692G>A	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	.	6.379	0.437944	0.12104	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307;ENST00000381117	T;T;T	0.58060	0.36;0.43;0.36	3.5	1.46	0.22682	.	0.164071	0.25456	N	0.030558	T	0.42314	0.1197	L	0.27053	0.805	0.22811	N	0.998708	P;P;D;P	0.67145	0.885;0.675;0.996;0.546	B;B;P;B	0.50537	0.178;0.1;0.643;0.046	T	0.31364	-0.9946	10	0.72032	D	0.01	-11.426	5.5797	0.17243	0.2981:0.0:0.7019:0.0	.	220;176;231;231	D3YTD1;G3XAG6;Q96QS1-3;Q96QS1	.;.;.;TSN32_HUMAN	H	231;231;220;167;176	ENSP00000182290:R231H;ENSP00000370513:R231H;ENSP00000405205:R220H	ENSP00000182290:R231H	R	+	2	0	TSPAN32	2294446	0.019000	0.18553	0.262000	0.24481	0.051000	0.14879	0.621000	0.24418	0.114000	0.18032	0.313000	0.20887	CGC		0.667	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		4	81	0	0	0	1	0	4	81					A	2337870	G	A	2337870	3	1	10	1	0	0	0	0	1	0	0	0	16644	1087	38	1	722	1	TSPAN32	11	2337870	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08		2337870	132668646	6	180										
CCDC86	79080	broad.mit.edu	37	chr11	60615402	60615402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ctctccccctttcagattctCccagatgcttcaggacaagc	6	16	4	2			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:60615402C>T	ENST00000227520.5	+	2	818	c.764C>T	c.(763-765)tCc>tTc	p.S255F	CCDC86_ENST00000545580.1_5'UTR|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	255					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TTCAGATTCTCCCAGATGCTT	0.617																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(763-765)tCc>tTc		coiled-coil domain containing 86							115	110	112					11																	60615402		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60615402C>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.764C>T	11.37:g.60615402C>T	ENSP00000227520:p.Ser255Phe					RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_5'UTR	p.S255F	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			2	818	+			255					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.764C>T	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365140	0.61513	.	.	ENSG00000110104	ENST00000227520	T	0.56941	0.43	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77482	-0.2571	10	0.66056	D	0.02	-16.0285	15.8625	0.79035	0.0:1.0:0.0:0.0	.	255	Q9H6F5	CCD86_HUMAN	F	255	ENSP00000227520:S255F	ENSP00000227520:S255F	S	+	2	0	CCDC86	60371978	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	5.249000	0.65427	2.464000	0.83262	0.591000	0.81541	TCC		0.617	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		15	192	0	0	0	1	0	15	192					T	60615402	C	T	60615402	3	4	10	1	0	0	0	0	1	0	0	0	2861	855	30	3	770	3	CCDC86	11	60615402	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08	58277532	60615402	74391114	7	181										
P2RY6	5031	broad.mit.edu	37	chr11	73008374	73008374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagtgcgctcgacgccgggcGtcccctgcactgtattggag	14	14	0	0	rs200512829		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr11:73008374G>A	ENST00000393590.2	+	2	1110	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I|P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	271					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GACGCCGGGCGTCCCCTGCAC	0.627																																						ENST00000393590.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						c.(811-813)Gtc>Atc		pyrimidinergic receptor P2Y, G-protein coupled, 6							64	63	63					11																	73008374		2200	4291	6491	SO:0001583	missense	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73008374G>A		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.811G>A	11.37:g.73008374G>A	ENSP00000377215:p.Val271Ile					P2RY6_ENST00000540342.1_Missense_Mutation_p.V271I|P2RY6_ENST00000542092.1_Missense_Mutation_p.V271I|P2RY6_ENST00000540124.1_Missense_Mutation_p.V271I|P2RY6_ENST00000538328.1_Missense_Mutation_p.V271I|P2RY6_ENST00000393592.2_Missense_Mutation_p.V271I|P2RY6_ENST00000393591.1_Missense_Mutation_p.V271I|P2RY6_ENST00000349767.2_Missense_Mutation_p.V271I	p.V271I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN			2	1110	+			271					Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.811G>A	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	8.272	0.813678	0.16537	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000538328	T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.81	0.764	0.18465	GPCR, rhodopsin-like superfamily (1);	0.299060	0.30126	N	0.010348	T	0.46964	0.1420	L	0.40543	1.245	0.09310	N	1	B	0.28419	0.211	B	0.22601	0.04	T	0.19321	-1.0309	10	0.25751	T	0.34	.	3.8738	0.09048	0.1431:0.3479:0.3903:0.1187	.	271	Q15077	P2RY6_HUMAN	I	271	ENSP00000443427:V271I;ENSP00000445652:V271I;ENSP00000309771:V271I;ENSP00000377217:V271I;ENSP00000377216:V271I;ENSP00000442551:V271I;ENSP00000377215:V271I;ENSP00000442990:V271I	ENSP00000309771:V271I	V	+	1	0	P2RY6	72686022	0.117000	0.22190	0.010000	0.14722	0.321000	0.28281	1.125000	0.31332	0.051000	0.15978	0.655000	0.94253	GTC		0.627	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			5	79	0	0	0	1	0	5	79					A	73008374	G	A	73008374	3	1	10	1	0	0	0	0	1	0	0	0	11354	1145	40	1	813	1	P2RY6	11	73008374	Missense_Mutation	SNP	G	TCGA-QR-A6GO-01A-11D-A35D-08	12392972	73008374	61998142	8	182										
AKAP11	11215	broad.mit.edu	37	chr13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaaaacattatgcaattttgCgggtgatctggcagcagaag	12	6	1	2			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(3778-3780)gCg>gTg		A kinase (PRKA) anchor protein 11							68	71	70					13																	42876661		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876661C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3779C>T	13.37:g.42876661C>T	ENSP00000025301:p.Ala1260Val						p.A1260V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3954	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1260					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3779C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523180	0.85600	.	.	ENSG00000023516	ENST00000025301	T	0.60040	0.22	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.76828	0.4042	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77469	-0.2576	10	0.59425	D	0.04	.	19.6299	0.95698	0.0:1.0:0.0:0.0	.	1260	Q9UKA4	AKA11_HUMAN	V	1260	ENSP00000025301:A1260V	ENSP00000025301:A1260V	A	+	2	0	AKAP11	41774661	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.456000	0.80751	2.639000	0.89480	0.655000	0.94253	GCG		0.368	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		4	122	0	0	0	1	0	4	122					T	42876661	C	T	42876661	3	4	10	1	0	0	0	0	1	0	0	0	447	768	27	1	3801	1	AKAP11	13	42876661	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08		42876661	72293217	9	183										
LTBP2	4053	broad.mit.edu	37	chr14	74968293	74968293	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttcgaagccggctgggggcTctgggaggaggaaatcggag	19	8	1	0			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr14:74968293T>G	ENST00000261978.4	-	35	5557	c.5171A>C	c.(5170-5172)gAg>gCg	p.E1724A	LTBP2_ENST00000556690.1_Splice_Site_p.E1680A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1724					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTGGGGGCTCTGGGAGGAG	0.647											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e35-1		latent transforming growth factor beta binding protein 2							29	34	32					14																	74968293		2202	4300	6502	SO:0001630	splice_region_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968293T>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5171-1A>C	14.37:g.74968293T>G			OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Splice_Site_p.E1680_splice	p.E1724_splice	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5557	-			1724					Q99907|Q9NS51	Splice_Site	SNP	ENST00000261978.4	37	c.5170_splice	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524974	0.44969	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78707	-1.2;-1.2	5.25	4.1	0.47936	.	0.344490	0.20717	N	0.086981	T	0.55752	0.1940	N	0.24115	0.695	0.37527	D	0.917789	B	0.21905	0.062	B	0.21151	0.033	T	0.51371	-0.8714	10	0.06757	T	0.87	.	4.1676	0.10313	0.0:0.1916:0.0:0.8084	.	1724	Q14767	LTBP2_HUMAN	A	1724;1680	ENSP00000261978:E1724A;ENSP00000451477:E1680A	ENSP00000261978:E1724A	E	-	2	0	LTBP2	74038046	0.697000	0.27767	0.900000	0.35374	0.186000	0.23388	0.947000	0.29082	2.204000	0.70986	0.528000	0.53228	GAG		0.647	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	Missense_Mutation	4	39	0	0	0	1	0	4	39					G	74968293	T	G	74968293	5	3	10	1	0	0	0	0	0	0	1	0	9074	1565	54	5	302	5	LTBP2	14	74968293	Splice_Site	SNP	T	TCGA-QR-A6GO-01A-11D-A35D-08		74968293	32381247	10	184										
ONECUT1	3175	broad.mit.edu	37	chr15	53081412	53081412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccgtggcggccgagcatggCcgggtggtgggcttcgaagc	19	12	0	0	rs550465203		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr15:53081412C>T	ENST00000305901.5	-	1	797	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	224					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCGAGCATGGCCGGGTGGTGG	0.701													C|||	1	0.000199681	0	0.0014	5008	,	,		14904	0		0	False		,,,				2504	0					ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(670-672)Gcc>Acc		one cut homeobox 1							32	42	38					15																	53081412		2185	4285	6470	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081412C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.670G>A	15.37:g.53081412C>T	ENSP00000302630:p.Ala224Thr					ONECUT1_ENST00000561401.2_Intron	p.A224T	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	797	-			224					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.670G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809486	0.50421	.	.	ENSG00000169856	ENST00000305901	T	0.50813	0.73	4.65	3.71	0.42584	.	0.120372	0.56097	D	0.000036	T	0.38558	0.1045	L	0.46741	1.465	0.80722	D	1	P	0.37781	0.608	B	0.31614	0.133	T	0.36529	-0.9744	10	0.52906	T	0.07	-12.7366	13.4303	0.61051	0.0:0.8409:0.1591:0.0	.	224	Q9UBC0	HNF6_HUMAN	T	224	ENSP00000302630:A224T	ENSP00000302630:A224T	A	-	1	0	ONECUT1	50868704	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.456000	0.80751	1.129000	0.42072	0.609000	0.83330	GCC		0.701	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			7	74	0	0	0	1	0	7	74					T	53081412	C	T	53081412	3	4	10	1	0	0	0	0	1	0	0	0	10868	739	26	3	735	3	ONECUT1	15	53081412	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08		53081412	49449980	11	185										
USP32	84669	broad.mit.edu	37	chr17	58257980	58257980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtgacgtaatggcccccacCcagaattcctgaatggcact	9	13	0	3	rs17405746		TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr17:58257980C>T	ENST00000300896.4	-	33	4761	c.4567G>A	c.(4567-4569)Ggt>Agt	p.G1523S	USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1523	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGCCCCCACCCAGAATTCCT	0.443																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4567-4569)Ggt>Agt		ubiquitin specific peptidase 32							119	105	110					17																	58257980		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58257980C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4567G>A	17.37:g.58257980C>T	ENSP00000300896:p.Gly1523Ser					USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	p.G1523S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		33	4761	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1523					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4567G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414921	0.96092	.	.	ENSG00000170832	ENST00000300896	T	0.27890	1.64	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52801	-0.8527	10	0.42905	T	0.14	.	18.852	0.92235	0.0:1.0:0.0:0.0	rs17405746	1523	Q8NFA0	UBP32_HUMAN	S	1523	ENSP00000300896:G1523S	ENSP00000300896:G1523S	G	-	1	0	USP32	55612762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.780000	0.85658	2.690000	0.91761	0.650000	0.86243	GGT		0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		4	134	0	0	0	1	0	4	134					T	58257980	C	T	58257980	3	4	10	1	0	0	0	0	1	0	0	0	17060	623	22	3	255	3	USP32	17	58257980	Missense_Mutation	SNP	C	TCGA-QR-A6GO-01A-11D-A35D-08		58257980	22937230	12	186										
CACNA1A	773	broad.mit.edu	37	chr19	13341013	13341013	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccatgatgacggcgacaaagAgattcagcatctgtggggac	13	9	2	3			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chr19:13341013A>C	ENST00000360228.5	-	36	5410	c.5411T>G	c.(5410-5412)cTc>cGc	p.L1804R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1805					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGACAAAGAGATTCAGCAT	0.577																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5410-5412)cTc>cGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						80	88	85					19																	13341013		2073	4228	6301	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13341013A>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5411T>G	19.37:g.13341013A>C	ENSP00000353362:p.Leu1804Arg					CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805R	p.L1804R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5410	-			1805					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5411T>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041512	0.55003	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.99292	-5.7	4.33	4.33	0.51752	Ion transport (1);	0.000000	0.64402	D	0.000017	D	0.99708	0.9888	H	0.99642	4.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.97092	0.9791	10	0.87932	D	0	.	12.4815	0.55844	1.0:0.0:0.0:0.0	.	1805;1810;1804;1805	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	R	1804;1810;1805;1805	ENSP00000353362:L1804R	ENSP00000317661:L1805R	L	-	2	0	CACNA1A	13202013	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.238000	0.95380	1.601000	0.50113	0.448000	0.29417	CTC		0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		12	19	0	0	0	1	0	12	19					C	13341013	A	C	13341013	3	2	10	1	0	0	0	0	1	0	0	0	2538	304	11	5	2258	5	CACNA1A	19	13341013	Missense_Mutation	SNP	A	TCGA-QR-A6GO-01A-11D-A35D-08		13341013	45787970	13	187										
BCOR	54880	broad.mit.edu	37	chrX	39937137	39937137	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	catgcggaccctctcgctgtTcatccagctgtgaacgttcc	9	15	2	1			TCGA-QR-A6GO-01A-11D-A35D-08	TCGA-QR-A6GO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc38b6eb-f471-4b7b-ae83-9a407c0993ec	8602b309-864e-49c1-9a80-76545236321d	g.chrX:39937137T>G	ENST00000378444.4	-	2	274	c.46A>C	c.(46-48)Aac>Cac	p.N16H	BCOR_ENST00000378455.4_Missense_Mutation_p.N16H|BCOR_ENST00000342274.4_Missense_Mutation_p.N16H|BCOR_ENST00000397354.3_Missense_Mutation_p.N16H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	16					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTCTCGCTGTTCATCCAGCTG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(46-48)Aac>Cac		BCL6 corepressor							110	86	94					X																	39937137		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39937137T>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.46A>C	X.37:g.39937137T>G	ENSP00000367705:p.Asn16His					BCOR_ENST00000378455.4_Missense_Mutation_p.N16H|BCOR_ENST00000397354.3_Missense_Mutation_p.N16H|BCOR_ENST00000378444.4_Missense_Mutation_p.N16H	p.N16H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			2	408	-			16					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.46A>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043311	0.75732	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000412952	T;T;T;T	0.44881	0.93;0.91;0.96;0.91	5.51	5.51	0.81932	.	.	.	.	.	T	0.40196	0.1107	N	0.14661	0.345	0.35536	D	0.802633	P;D;D;P	0.56521	0.883;0.976;0.96;0.951	P;P;P;P	0.55785	0.632;0.784;0.613;0.632	T	0.50634	-0.8805	8	.	.	.	-20.01	14.6304	0.68653	0.0:0.0:0.0:1.0	.	16;16;16;16	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	H	16	ENSP00000367716:N16H;ENSP00000380512:N16H;ENSP00000367705:N16H;ENSP00000345923:N16H	.	N	-	1	0	BCOR	39822081	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.833000	0.69349	1.835000	0.53391	0.417000	0.27973	AAC		0.592	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		37	16	0	0	0	1	0	37	16					G	39937137	T	G	39937137	3	3	10	1	0	0	0	0	1	0	0	0	1386	1783	62	5	5277	5	BCOR	23	39937137	Missense_Mutation	SNP	T	TCGA-QR-A6GO-01A-11D-A35D-08		39937137	115333423	14	188										
BRE	9577	broad.mit.edu	37	chr2	28550178	28550178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gagatgcctgcagcccgtggGagcaagtcctggcctttgca	14	12	0	1			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:28550178G>A	ENST00000344773.2	+	12	1264	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron	NM_004899.4	NP_004890.2			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAGCCCGTGGGAGCAAGTCCT	0.617																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1126-1128)Gag>Aag		brain and reproductive organ-expressed (TNFRSF1A modulator)							64	72	69					2																	28550178		2203	4300	6503	SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28550178G>A	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 4"	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000344773.2:c.1126G>A	2.37:g.28550178G>A	ENSP00000343412:p.Glu376Lys					BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron	p.E376K	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			12	1264	+	Acute lymphoblastic leukemia(172;0.155)		0						Missense_Mutation	SNP	ENST00000344773.2	37	c.1126G>A	CCDS1764.1	.	.	.	.	.	.	.	.	.	.	G	9.006	0.981409	0.18812	.	.	ENSG00000158019	ENST00000344773	.	.	.	2.04	0.0234	0.14137	.	.	.	.	.	T	0.20047	0.0482	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.12837	0.008	T	0.20338	-1.0278	7	0.36615	T	0.2	2.9872	2.4169	0.04438	0.1813:0.0:0.5257:0.2931	.	376	Q9NXR7-1	.	K	376	.	ENSP00000343412:E376K	E	+	1	0	BRE	28403682	0.000000	0.05858	0.000000	0.03702	0.476000	0.33039	0.039000	0.13884	-0.002000	0.14469	0.305000	0.20034	GAG		0.617	BRE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215111.1			25	44	0	0	0	1	0	25	44					A	28550178	G	A	28550178	3	1	11	1	0	0	0	0	1	0	0	0	1509	1175	41	3	1215	3	BRE	2	28550178	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		28550178	214649195	1	189										
MAL	4118	broad.mit.edu	37	chr2	95713828	95713828	+	Missense_Mutation	SNP	A	A	G													0	0	1	0	0	0	1	1	0	caccaccttgatcatcctgtAcataattggagcccacggtg							TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713828A>G	ENST00000309988.4	+	2	327	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.Y73C|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	73	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ATCATCCTGTACATAATTGGA	0.622																																						ENST00000309988.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(217-219)tAc>tGc		mal, T-cell differentiation protein							103	93	96					2																	95713828		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713828A>G		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.218A>G	2.37:g.95713828A>G	ENSP00000310880:p.Tyr73Cys					MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.Y73C	p.Y73C	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	327	+			73			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.218A>G	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032609	0.54790	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.50548	1.44;0.74	5.77	5.77	0.91146	Marvel (1);MARVEL-like domain (1);	0.050562	0.85682	D	0.000000	T	0.72350	0.3449	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77422	-0.2594	10	0.62326	D	0.03	.	12.4895	0.55891	1.0:0.0:0.0:0.0	.	73;73	P21145-2;P21145	.;MAL_HUMAN	C	73	ENSP00000310880:Y73C;ENSP00000306568:Y73C	ENSP00000310880:Y73C	Y	+	2	0	MAL	95077555	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	5.602000	0.67612	2.215000	0.71742	0.459000	0.35465	TAC		0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		10	31	0	0	0	1	0	10	31					G	95713828	A	G	95713828	3	3	11	1	0	0	0	0	1	0	0	0	9199	391	14	4	224	4	MAL	2	95713828	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	67163650	95713828	147485545	2	190	2	2								
MAL	4118	broad.mit.edu	37	chr2	95713830	95713830	+	Missense_Mutation	SNP	A	A	G													0	0	1	0	0	0	1	1	0	ccaccttgatcatcctgtacAtaattggagcccacggtgga							TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:95713830A>G	ENST00000309988.4	+	2	329	c.220A>G	c.(220-222)Ata>Gta	p.I74V	MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.I74V|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	74	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.I74V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CATCCTGTACATAATTGGAGC	0.622																																						ENST00000309988.4																			1	Substitution - Missense(1)	p.I74V(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10						c.(220-222)Ata>Gta		mal, T-cell differentiation protein							104	93	97					2																	95713830		2203	4300	6503	SO:0001583	missense	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713830A>G		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.220A>G	2.37:g.95713830A>G	ENSP00000310880:p.Ile74Val					MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.I74V	p.I74V	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	329	+			74			MARVEL.		Q6FH77	Missense_Mutation	SNP	ENST00000309988.4	37	c.220A>G	CCDS2006.1	.	.	.	.	.	.	.	.	.	.	A	1.702	-0.501229	0.04261	.	.	ENSG00000172005	ENST00000309988;ENST00000353004	T;T	0.41758	1.9;0.99	5.77	0.0503	0.14293	Marvel (1);MARVEL-like domain (1);	0.703683	0.15149	N	0.277817	T	0.18759	0.0450	N	0.13140	0.3	0.45035	D	0.998055	B;B	0.09022	0.002;0.002	B;B	0.14023	0.004;0.01	T	0.09796	-1.0658	10	0.21540	T	0.41	.	1.942	0.03348	0.5035:0.2424:0.0939:0.1602	.	74;74	P21145-2;P21145	.;MAL_HUMAN	V	74	ENSP00000310880:I74V;ENSP00000306568:I74V	ENSP00000310880:I74V	I	+	1	0	MAL	95077557	0.033000	0.19621	0.100000	0.21137	0.487000	0.33371	0.086000	0.14935	-0.141000	0.11374	-1.785000	0.00643	ATA		0.622	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		9	31	0	0	0	1	0	9	31					G	95713830	A	G	95713830	3	3	11	1	0	0	0	0	1	0	0	0	9199	217	8	4	226	4	MAL	2	95713830	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	2	95713830	147485543	3	191	2	2								
XIRP2	129446	broad.mit.edu	37	chr2	168115434	168115434	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagctgctggcagtcctgTgcagcctgctccaaaaccaa	10	14	0	0			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr2:168115434T>A	ENST00000409728.1	+	11	2566	c.2477T>A	c.(2476-2478)gTg>gAg	p.V826E	XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGCAGTCCTGTGCAGCCTGCT	0.443																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2476-2478)gTg>gAg		xin actin-binding repeat containing 2							29	29	29					2																	168115434		1858	4103	5961	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115434T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2477T>A	2.37:g.168115434T>A	ENSP00000386619:p.Val826Glu					XIRP2_ENST00000409756.2_Missense_Mutation_p.V793E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.V793E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V826E|XIRP2_ENST00000409605.1_Missense_Mutation_p.V571E	p.V826E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2566	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.2477T>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890011	0.33348	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;D	0.81579	-1.49;-1.49;-1.49;-1.49;-1.51	5.67	3.25	0.37280	.	.	.	.	.	T	0.69468	0.3114	.	.	.	0.80722	D	1	B;B	0.23806	0.091;0.091	B;B	0.19666	0.018;0.026	T	0.63849	-0.6544	8	0.87932	D	0	.	3.2059	0.06666	0.1718:0.2158:0.0:0.6124	.	793;826	A4UGR9-4;A4UGR9-6	.;.	E	793;826;793;826;571	ENSP00000386454:V793E;ENSP00000386619:V826E;ENSP00000386724:V793E;ENSP00000415541:V826E;ENSP00000386981:V571E	ENSP00000386454:V793E	V	+	2	0	XIRP2	167823680	0.998000	0.40836	0.820000	0.32676	0.606000	0.37113	1.934000	0.40163	0.408000	0.25621	0.459000	0.35465	GTG		0.443	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		15	27	0	0	0	1	0	15	27					A	168115434	T	A	168115434	3	1	11	1	0	0	0	0	1	0	0	0	17427	1696	59	5	11795	5	XIRP2	2	168115434	Missense_Mutation	SNP	T	TCGA-QR-A6GR-01A-11D-A35D-08	72401604	168115434	75083939	4	192										
SNRK	54861	broad.mit.edu	37	chr3	43389775	43389775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	acagaatggcttgtcattttCcagtgtgaaagtccaagaga	10	7	1	3			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr3:43389775C>T	ENST00000296088.7	+	7	2328	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTGTCATTTTCCAGTGTGAAA	0.498																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(2023-2025)tCc>tTc		SNF related kinase							58	61	60					3																	43389775		1871	4105	5976	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43389775C>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.2024C>T	3.37:g.43389775C>T	ENSP00000296088:p.Ser675Phe					SNRK_ENST00000429705.2_Missense_Mutation_p.S675F|SNRK_ENST00000437827.1_Missense_Mutation_p.S469F|SNRK_ENST00000454177.1_Missense_Mutation_p.S675F	p.S675F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	7	2328	+			675						Missense_Mutation	SNP	ENST00000296088.7	37	c.2024C>T	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	C	6.981	0.551042	0.13374	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.67171	-0.25;-0.25;-0.25;2.64	5.26	3.42	0.39159	.	0.258781	0.38381	N	0.001706	T	0.60958	0.2309	L	0.54323	1.7	0.40330	D	0.978916	B	0.29085	0.232	B	0.27170	0.077	T	0.62402	-0.6862	10	0.87932	D	0	.	12.3261	0.55011	0.1347:0.7359:0.1294:0.0	.	675	Q9NRH2	SNRK_HUMAN	F	675;675;675;469	ENSP00000401246:S675F;ENSP00000411375:S675F;ENSP00000296088:S675F;ENSP00000409516:S469F	ENSP00000296088:S675F	S	+	2	0	SNRK	43364779	1.000000	0.71417	0.391000	0.26233	0.082000	0.17680	5.063000	0.64332	0.685000	0.31468	-0.176000	0.13171	TCC		0.498	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		7	54	0	0	0	1	0	7	54					T	43389775	C	T	43389775	3	4	11	1	0	0	0	0	1	0	0	0	14851	855	30	3	2042	3	SNRK	3	43389775	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		43389775	154632655	5	193										
DNAH8	1769	broad.mit.edu	37	chr6	38881624	38881624	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatatgtgtgtatttgtaaaGgtcttgataaactaatggag	10	2	1	1			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:38881624G>A	ENST00000359357.3	+	65	9462		c.e65-1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTTGTAAAGGTCTTGATAA	0.358																																						ENST00000359357.3																			2	Unknown(2)	p.?(2)	skin(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e65-1		dynein, axonemal, heavy chain 8							107	105	106					6																	38881624		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38881624G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9209-1G>A	6.37:g.38881624G>A						DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site								65	9462	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	G	28.3	4.909478	0.92107	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38989602	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.675000	0.98638	2.894000	0.99253	0.655000	0.94253	.		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	11	34	0	0	0	1	0	11	34					A	38881624	G	A	38881624	5	1	11	1	0	0	0	0	0	0	1	0	4607	1014	35	3	9458	3	DNAH8	6	38881624	Splice_Site	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		38881624	132233443	6	194										
MLLT4	4301	broad.mit.edu	37	chr6	168281192	168281192	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accctaaggattactgcatcGcccgggtaaggaactttatc	9	11	0	0			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr6:168281192G>T	ENST00000447894.2	+	6	892	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(892-894)Gcc>Tcc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99	110	106					6																	168281192		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281192G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.892G>T	6.37:g.168281192G>T	ENSP00000404595:p.Ala298Ser					MLLT4_ENST00000351017.4_Missense_Mutation_p.A298S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297S|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297S	p.A298S			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	6	1034	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	298			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.892G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.030669|4.030669	0.75504|0.75504	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.057014|.	0.64402|.	D|.	0.000001|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999995|0.999995	B;B;B|.	0.33266|.	0.404;0.113;0.113|.	P;P;B|.	0.47573|.	0.55;0.507;0.438|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.62326|.	D|.	0.03|.	-8.2159|-8.2159	18.8279|18.8279	0.92125|0.92125	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297;298;297|.	P55196-5;P55196-6;P55196-2|.	.;.;.|.	S|L	298;298;298;298;297;298;297;298|11	ENSP00000341118:A298S;ENSP00000252692:A298S;ENSP00000375956:A298S;ENSP00000355771:A298S;ENSP00000375960:A297S;ENSP00000383623:A297S;ENSP00000404595:A298S|.	ENSP00000345834:A298S|.	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168024041|168024041	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.589000|0.589000	0.36550|0.36550	7.109000|7.109000	0.77062|0.77062	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		24	65	1	0	1.10923e-09	1	1.20167e-09	24	65					T	168281192	G	T	168281192	3	4	11	1	0	0	0	0	1	0	0	0	9629	1087	38	5	914	5	MLLT4	6	168281192	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08	129399568	168281192	2833875	7	195										
POTEA	340441	broad.mit.edu	37	chr8	43147783	43147783	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagagaccacgacgacagCgccttcacggagccaaggta	13	12	1	1			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:43147783C>T	ENST00000522175.2	+	0	158							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACGACGACAGCGCCTTCACGG	0.607																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							66	70	69					8																	43147783		2203	4300	6503			340441							g.chr8:43147783C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147783C>T										Q6S8J7	POTEA_HUMAN			0	158	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.607	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		23	50	0	0	0	1	0	23	50					T	43147783	C	T	43147783	1	4	11	0	1	0	0	0	0	0	0	0	12261	767	27	1		1	POTEA	8	43147783	RNA	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		43147783	103216239	8	196										
WWP1	11059	broad.mit.edu	37	chr8	87470169	87470169	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttatgttgtgtggcatgcAggaggttgacttggcagatt	16	4	0	2			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr8:87470169A>G	ENST00000517970.1	+	22	2721	c.2414A>G	c.(2413-2415)cAg>cGg	p.Q805R	WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R|WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	805	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTGGCATGCAGGAGGTTGAC	0.373																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2413-2415)cAg>cGg		WW domain containing E3 ubiquitin protein ligase 1							169	151	157					8																	87470169		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87470169A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2414A>G	8.37:g.87470169A>G	ENSP00000427793:p.Gln805Arg					WWP1_ENST00000349423.2_Missense_Mutation_p.Q587R|WWP1_ENST00000265428.4_Missense_Mutation_p.Q805R|WWP1_ENST00000341922.2_Missense_Mutation_p.Q675R	p.Q805R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			22	2721	+			805			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2414A>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215265	0.79352	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.9	4.9	0.64082	HECT (4);	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.62544	-0.6832	10	0.62326	D	0.03	.	14.5539	0.68086	1.0:0.0:0.0:0.0	.	805	Q9H0M0	WWP1_HUMAN	R	805;805;675;587	ENSP00000427793:Q805R;ENSP00000265428:Q805R;ENSP00000340564:Q675R;ENSP00000342665:Q587R	ENSP00000265428:Q805R	Q	+	2	0	WWP1	87539285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.162000	0.94745	1.842000	0.53543	0.477000	0.44152	CAG		0.373	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		29	43	0	0	0	1	0	29	43					G	87470169	A	G	87470169	3	3	11	1	0	0	0	0	1	0	0	0	17412	188	7	4	2492	4	WWP1	8	87470169	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	44322386	87470169	58893853	9	197										
FBXO18	84893	broad.mit.edu	37	chr10	5960389	5960389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatctataccttccggggtgCggtcaacgccctgttcacag	11	13	3	0			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr10:5960389C>T	ENST00000362091.4	+	13	2163	c.2048C>T	c.(2047-2049)gCg>gTg	p.A683V	FBXO18_ENST00000379999.5_Missense_Mutation_p.A734V|FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	683					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTCCGGGGTGCGGTCAACGCC	0.537																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2200-2202)gCg>gTg		F-box protein, helicase, 18							143	129	134					10																	5960389		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5960389C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2048C>T	10.37:g.5960389C>T	ENSP00000355415:p.Ala683Val					FBXO18_ENST00000397269.3_Missense_Mutation_p.A170V|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000362091.4_Missense_Mutation_p.A683V	p.A734V	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			14	2305	+			683					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.2201C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493010	0.96339	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.85861	-2.04;-2.04;-2.04	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.95359	0.8454	10	0.87932	D	0	-18.3975	19.8834	0.96906	0.0:1.0:0.0:0.0	.	734;683;609	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	V	170;683;734	ENSP00000380439:A170V;ENSP00000355415:A683V;ENSP00000369335:A734V	ENSP00000355415:A683V	A	+	2	0	FBXO18	6000395	1.000000	0.71417	0.496000	0.27539	0.918000	0.54935	6.934000	0.75880	2.791000	0.96007	0.650000	0.86243	GCG		0.537	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		4	105	0	0	0	1	0	4	105					T	5960389	C	T	5960389	3	4	11	1	0	0	0	0	1	0	0	0	5731	768	27	1	2260	1	FBXO18	10	5960389	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		5960389	129574358	10	198										
CKAP5	9793	broad.mit.edu	37	chr11	46765604	46765604	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctctttattctctccagtCtttttttcaagtcgtctatg	5	10	5	0			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr11:46765604C>A	ENST00000529230.1	-	44	6114	c.6068G>T	c.(6067-6069)aGa>aTa	p.R2023I	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2023					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTCCAGTCTTTTTTTCAA	0.473																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(6067-6069)aGa>aTa		cytoskeleton associated protein 5							92	83	86					11																	46765604		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46765604C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.6068G>T	11.37:g.46765604C>A	ENSP00000432768:p.Arg2023Ile					CKAP5_ENST00000312055.5_Missense_Mutation_p.R1963I|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1963I|CKAP5_ENST00000415402.1_Missense_Mutation_p.R2030I	p.R2023I			Q14008	CKAP5_HUMAN			44	6114	-			2023					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.6068G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121436	0.94385	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.68479	0.1;0.09;-0.33;-0.33	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.995	D;D;D	0.83275	0.996;0.994;0.986	T	0.82924	-0.0216	10	0.87932	D	0	-10.801	19.5008	0.95093	0.0:1.0:0.0:0.0	.	2030;1963;2023	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	I	2023;2030;1963;1963	ENSP00000432768:R2023I;ENSP00000395302:R2030I;ENSP00000310227:R1963I;ENSP00000346566:R1963I	ENSP00000310227:R1963I	R	-	2	0	CKAP5	46722180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	AGA		0.473	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		6	61	1	0	0.00307968	1	0.00307968	6	61					A	46765604	C	A	46765604	3	1	11	1	0	0	0	0	1	0	0	0	3445	913	32	5	34	5	CKAP5	11	46765604	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		46765604	88240912	11	199										
GANC	2595	broad.mit.edu	37	chr15	42614135	42614135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggacatagagcacactgagGgcaagaggtacttcacctgg	13	9	1	3			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:42614135G>A	ENST00000318010.8	+	11	1450	c.1210G>A	c.(1210-1212)Ggc>Agc	p.G404S		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	404					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCACACTGAGGGCAAGAGGTA	0.463																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1210-1212)Ggc>Agc		glucosidase, alpha; neutral C							121	96	105					15																	42614135		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42614135G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1210G>A	15.37:g.42614135G>A	ENSP00000326227:p.Gly404Ser						p.G404S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	11	1450	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	404					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1210G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240399	0.95240	.	.	ENSG00000214013	ENST00000318010	D	0.95690	-3.78	5.47	5.47	0.80525	Glycoside hydrolase, superfamily (1);	0.152935	0.56097	D	0.000022	D	0.96555	0.8876	M	0.79614	2.46	0.58432	D	0.999995	P	0.48407	0.91	P	0.50162	0.633	D	0.96356	0.9262	10	0.49607	T	0.09	-6.9399	19.3311	0.94288	0.0:0.0:1.0:0.0	.	404	Q8TET4	GANC_HUMAN	S	404	ENSP00000326227:G404S	ENSP00000326227:G404S	G	+	1	0	GANC	40401427	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	6.691000	0.74573	2.565000	0.86533	0.655000	0.94253	GGC		0.463	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		9	13	0	0	0	1	0	9	13					A	42614135	G	A	42614135	3	1	11	1	0	0	0	0	1	0	0	0	6234	1232	43	3	1252	3	GANC	15	42614135	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		42614135	59917257	12	200										
TGM5	9333	broad.mit.edu	37	chr15	43527804	43527804	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acatgttgagggccagcaggAcaaagcatatatcctggccc	11	11	0	1			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:43527804A>G	ENST00000220420.5	-	10	1584	c.1577T>C	c.(1576-1578)gTc>gCc	p.V526A	TGM5_ENST00000349114.4_Missense_Mutation_p.V444A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	526					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCAGCAGGACAAAGCATAT	0.567																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1576-1578)gTc>gCc		transglutaminase 5	L-Glutamine(DB00130)						101	81	87					15																	43527804		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527804A>G	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1577T>C	15.37:g.43527804A>G	ENSP00000220420:p.Val526Ala					TGM5_ENST00000349114.4_Missense_Mutation_p.V444A	p.V526A	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1584	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	526					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1577T>C	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.352464	0.01256	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68903	-0.36;-0.36	5.58	3.28	0.37604	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.305350	0.31381	N	0.007754	T	0.43055	0.1230	N	0.20483	0.58	0.29222	N	0.873841	B;B	0.25719	0.114;0.132	B;B	0.27500	0.061;0.08	T	0.38351	-0.9665	10	0.05351	T	0.99	-22.3449	7.2404	0.26094	0.8237:0.0:0.1763:0.0	.	444;526	O43548-2;O43548	.;TGM5_HUMAN	A	526;444;525	ENSP00000220420:V526A;ENSP00000220419:V444A	ENSP00000220420:V526A	V	-	2	0	TGM5	41315096	0.328000	0.24687	0.996000	0.52242	0.088000	0.18126	0.858000	0.27845	0.410000	0.25675	-0.274000	0.10170	GTC		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	20	0	0	0	1	0	11	20					G	43527804	A	G	43527804	3	3	11	1	0	0	0	0	1	0	0	0	15830	275	10	4	601	4	TGM5	15	43527804	Missense_Mutation	SNP	A	TCGA-QR-A6GR-01A-11D-A35D-08	913669	43527804	59003588	13	201										
SMAD6	4091	broad.mit.edu	37	chr15	66996088	66996090	+	In_Frame_Del	DEL	GCT	GCT	-													0	0	1	0	0	0	1	1	0	agtcgcgaagcgcgctcgcgGctgctgctgctggagcagga							TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr15:66996088_66996090delGCT	ENST00000288840.5	+	1	1523_1525	c.492_494delGCT	c.(490-495)cggctg>cgg	p.L168del	SMAD6_ENST00000457357.2_In_Frame_Del_p.L168del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	168	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.|Poly-Leu.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CGCGCTCGCGGCTGCTGCTGCTG	0.759																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(490-495)cgg>cg		SMAD family member 6																																				SO:0001651	inframe_deletion	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:66996088_66996090delGCT	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.492_494delGCT	15.37:g.66996097_66996099delGCT	ENSP00000288840:p.Leu168del					SMAD6_ENST00000457357.2_In_Frame_Del_p.RL164del	p.RL164del	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			1	1523_1525	+			164			MH1.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	In_Frame_Del	DEL	ENST00000288840.5	37	c.492_494delGCT	CCDS10221.1																																																																																				0.759	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		2	4						2	4	---	---	---	---	-	66996090	GCT	-	66996088	7	5	11	1	0	1	0	1	0	0	0	0	14762	1190	42	0	494	0	SMAD6	15	66996088	In_Frame_Del	DEL	GCT	TCGA-QR-A6GR-01A-11D-A35D-08	23468284	66996088	35535304	14	202										
SLFN11	91607	broad.mit.edu	37	chr17	33679950	33679950	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	aggagggaggccactgcaatCcaagtggctggtctgaaagt	15	8	1	1			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr17:33679950C>G	ENST00000394566.1	-	7	2403	c.2131G>C	c.(2131-2133)Gat>Cat	p.D711H	SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	711					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACTGCAATCCAAGTGGCTG	0.483																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2131-2133)Gat>Cat		schlafen family member 11							116	121	119					17																	33679950		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679950C>G	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2131G>C	17.37:g.33679950C>G	ENSP00000378067:p.Asp711His					SLFN11_ENST00000308377.4_Missense_Mutation_p.D711H	p.D711H	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2403	-		Ovarian(249;0.17)	711					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2131G>C	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	6.901	0.535747	0.13188	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.86865	-2.18;-2.18	4.0	-4.99	0.03010	.	1.799170	0.02834	N	0.127071	T	0.78368	0.4272	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.58730	-0.7585	10	0.40728	T	0.16	.	1.6976	0.02865	0.1423:0.2648:0.1393:0.4536	.	711	Q7Z7L1	SLN11_HUMAN	H	711	ENSP00000312402:D711H;ENSP00000378067:D711H	ENSP00000312402:D711H	D	-	1	0	SLFN11	30704063	0.000000	0.05858	0.014000	0.15608	0.371000	0.29859	-1.281000	0.02802	-1.169000	0.02772	-1.830000	0.00593	GAT		0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		48	65	0	0	0	1	0	48	65					G	33679950	C	G	33679950	3	3	11	1	0	0	0	0	1	0	0	0	14733	855	30	5	578	5	SLFN11	17	33679950	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		33679950	47515260	15	203										
RALGAPB	57148	broad.mit.edu	37	chr20	37153542	37153542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttgaaagggattgatgttGtggttccttactttatttca	9	5	1	2			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr20:37153542G>A	ENST00000262879.6	+	11	2025	c.1741G>A	c.(1741-1743)Gtg>Atg	p.V581M	RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	581					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATTGATGTTGTGGTTCCTTA	0.408																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1741-1743)Gtg>Atg		Ral GTPase activating protein, beta subunit (non-catalytic)							300	276	284					20																	37153542		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153542G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1741G>A	20.37:g.37153542G>A	ENSP00000262879:p.Val581Met					RALGAPB_ENST00000397042.3_Missense_Mutation_p.V581M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V581M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V359M	p.V581M			Q86X10	RLGPB_HUMAN			11	2025	+			581					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1741G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867695	0.72065	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.68765	-0.35;-0.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.41131	0.571;0.739;0.739;0.739	B;B;B;B	0.39419	0.17;0.299;0.299;0.299	T	0.68769	-0.5321	10	0.87932	D	0	.	15.0702	0.72030	0.0:0.0:0.8575:0.1425	.	409;581;581;581	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	M	581;581;581;359;581;409	ENSP00000262879:V581M;ENSP00000380233:V581M	ENSP00000262879:V581M	V	+	1	0	RALGAPB	36586956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.587000	0.87381	0.561000	0.74099	GTG		0.408	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		51	99	0	0	0	1	0	51	99					A	37153542	G	A	37153542	3	1	11	1	0	0	0	0	1	0	0	0	13015	1377	48	3	1779	3	RALGAPB	20	37153542	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		37153542	25871978	16	204										
ITSN1	6453	broad.mit.edu	37	chr21	35154325	35154325	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttgttacacttaaaagagCcttagaagcaaaagaactag	7	7	0	3			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chr21:35154325C>G	ENST00000381318.3	+	16	2000	c.1712C>G	c.(1711-1713)gCc>gGc	p.A571G	ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399367.3_Missense_Mutation_p.A571G|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	571	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTAAAAGAGCCTTAGAAGCA	0.348																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(1711-1713)gCc>gGc		intersectin 1 (SH3 domain protein)							75	76	75					21																	35154325		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35154325C>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1712C>G	21.37:g.35154325C>G	ENSP00000370719:p.Ala571Gly					ITSN1_ENST00000399353.1_Missense_Mutation_p.A534G|ITSN1_ENST00000399355.2_Missense_Mutation_p.A571G|ITSN1_ENST00000399367.3_Missense_Mutation_p.A571G|ITSN1_ENST00000399338.4_Missense_Mutation_p.A571G|ITSN1_ENST00000399326.3_Missense_Mutation_p.A571G|ITSN1_ENST00000437442.2_Missense_Mutation_p.A571G|ITSN1_ENST00000381285.4_Missense_Mutation_p.A571G|ITSN1_ENST00000381291.4_Missense_Mutation_p.A571G|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Missense_Mutation_p.A571G|ITSN1_ENST00000399349.1_Missense_Mutation_p.A571G|ITSN1_ENST00000399352.1_Missense_Mutation_p.A571G	p.A571G	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			16	2000	+			571			KLERQ.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.1712C>G	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739072	0.89573	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.44482	1.53;2.49;2.49;2.49;1.53;1.53;2.49;1.53;1.53;1.53;1.53;0.92	5.81	5.81	0.92471	.	0.054858	0.64402	D	0.000001	T	0.57562	0.2062	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;B;D	0.76494	0.999;0.999;0.99;0.995;0.992;0.999;0.995;0.995;0.189;0.999	D;D;P;D;P;P;P;P;B;D	0.68765	0.96;0.942;0.76;0.93;0.793;0.883;0.844;0.844;0.214;0.942	T	0.45571	-0.9252	10	0.28530	T	0.3	.	20.0787	0.97763	0.0:1.0:0.0:0.0	.	534;534;534;571;571;571;571;571;571;534	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	G	534;571;571;571;571;571;571;571;571;571;571;571;571;571	ENSP00000382290:A534G;ENSP00000370719:A571G;ENSP00000370691:A571G;ENSP00000370685:A571G;ENSP00000382301:A571G;ENSP00000382289:A571G;ENSP00000382292:A571G;ENSP00000382286:A571G;ENSP00000382275:A571G;ENSP00000387377:A571G;ENSP00000382265:A571G;ENSP00000369294:A571G	ENSP00000369294:A571G	A	+	2	0	ITSN1	34076195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.659000	0.61504	2.750000	0.94351	0.637000	0.83480	GCC		0.348	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		13	26	0	0	0	1	0	13	26					G	35154325	C	G	35154325	3	3	11	1	0	0	0	0	1	0	0	0	7926	739	26	5	1770	5	ITSN1	21	35154325	Missense_Mutation	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08		35154325	12975570	17	205										
CXorf23	256643	broad.mit.edu	37	chrX	19983717	19983717	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggtgggagggaatgctcaGgcttccactttgggttcctg	15	8	1	0			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:19983717G>T	ENST00000379682.4	-	3	752	c.719C>A	c.(718-720)cCt>cAt	p.P240H	CXorf23_ENST00000379687.3_Missense_Mutation_p.P240H|CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	240						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GGAATGCTCAGGCTTCCACTT	0.502																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(718-720)cCt>cAt		chromosome X open reading frame 23							133	125	127					X																	19983717		1960	4110	6070	SO:0001583	missense	256643					mitochondrion		g.chrX:19983717G>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.719C>A	X.37:g.19983717G>T	ENSP00000369004:p.Pro240His					CXorf23_ENST00000379682.4_Missense_Mutation_p.P240H|CXorf23_ENST00000356980.3_Missense_Mutation_p.P240H	p.P240H	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			3	752	-			240					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.719C>A		.	.	.	.	.	.	.	.	.	.	G	13.86	2.363004	0.41902	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.14640	2.49;2.49;2.49	5.24	4.26	0.50523	.	.	.	.	.	T	0.12561	0.0305	N	0.19112	0.55	0.09310	N	1	P;D	0.53151	0.925;0.958	P;P	0.50378	0.639;0.639	T	0.13176	-1.0519	8	.	.	.	.	6.9776	0.24686	0.1053:0.0:0.6796:0.2152	.	240;240	A2AJT9-2;A2AJT9	.;CX023_HUMAN	H	240;240;240;128	ENSP00000369009:P240H;ENSP00000369004:P240H;ENSP00000349470:P240H	.	P	-	2	0	CXorf23	19893638	0.195000	0.23338	0.543000	0.28128	0.937000	0.57800	2.226000	0.42963	0.927000	0.37143	0.550000	0.68814	CCT		0.502	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		4	95	1	0	0.000602214	1	0.000626303	4	95					T	19983717	G	T	19983717	3	4	11	1	0	0	0	0	1	0	0	0	4103	1000	35	5	1365	5	CXorf23	23	19983717	Missense_Mutation	SNP	G	TCGA-QR-A6GR-01A-11D-A35D-08		19983717	135286843	18	206										
ASB12	142689	broad.mit.edu	37	chrX	63445429	63445429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgattgagagcctgcttctcCtctgtgtcagtgtcctcctc	9	13	3	2			TCGA-QR-A6GR-01A-11D-A35D-08	TCGA-QR-A6GR-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d744b-5afb-4388-8ab0-54c5fcb6ff8a	e9327904-c709-4e09-92c8-42147d722c32	g.chrX:63445429C>T	ENST00000396130.2	-	1	74	c.75G>A	c.(73-75)gaG>gaA	p.E25E	MTMR8_ENST00000453546.1_Silent_p.E409E|ASB12_ENST00000362002.2_Silent_p.E34E			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	25					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						CCTGCTTCTCCTCTGTGTCAG	0.493																																						ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1225-1227)gaG>gaA		myotubularin related protein 8							78	59	65					X																	63445429		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445429C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.75G>A	X.37:g.63445429C>T						ASB12_ENST00000396130.2_Silent_p.E25E|ASB12_ENST00000362002.2_Silent_p.E34E	p.E409E			Q96EF0	MTMR8_HUMAN			10	1316	-			0			Myotubularin phosphatase.		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.1227G>A																																																																																					0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	19	0	0	0	1	0	3	19					T	63445429	C	T	63445429	2	4	11	1	0	0	0	0	0	0	0	1	1016	680	24	3		3	ASB12	23	63445429	Silent	SNP	C	TCGA-QR-A6GR-01A-11D-A35D-08	43461712	63445429	91825131	19	207										
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	310	0	0	0	1	0	7	310					A	152327955	G	A	152327955	2	1	12	1	0	0	0	0	0	0	0	1	5923	962	34	3		3	FLG2	1	152327955	Silent	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		152327955	96922666	1	208										
HMCN1	83872	broad.mit.edu	37	chr1	185892705	185892705	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	accaccaaatgaagctttctTtctcaaagtaacaggctatg	6	10	2	1			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:185892705T>G	ENST00000271588.4	+	8	1434	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	402					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						GAAGCTTTCTTTCTCAAAGTA	0.353																																						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.(1204-1206)tTt>tGt		hemicentin 1							112	112	112					1																	185892705		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185892705T>G	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.1205T>G	1.37:g.185892705T>G	ENSP00000271588:p.Phe402Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C	p.F402C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			8	1434	+			402					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1205T>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838646	0.71373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64618	-0.1;-0.11	5.49	5.49	0.81192	.	0.046319	0.85682	D	0.000000	T	0.75882	0.3910	M	0.63843	1.955	0.58432	D	0.999993	D	0.89917	1.0	D	0.67231	0.95	T	0.78373	-0.2229	10	0.66056	D	0.02	.	15.6023	0.76634	0.0:0.0:0.0:1.0	.	402	Q96RW7	HMCN1_HUMAN	C	402	ENSP00000271588:F402C;ENSP00000356462:F402C	ENSP00000271588:F402C	F	+	2	0	HMCN1	184159328	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.812000	0.69194	2.083000	0.62718	0.482000	0.46254	TTT		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	67	0	0	0	1	0	9	67					G	185892705	T	G	185892705	3	3	12	1	0	0	0	0	1	0	0	0	7220	1841	64	5	1235	5	HMCN1	1	185892705	Missense_Mutation	SNP	T	TCGA-QR-A6GS-01A-11D-A35D-08	33564750	185892705	63357916	2	209										
PTPN14	5784	broad.mit.edu	37	chr1	214546172	214546172	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	tgtagtgccattctgccccgCcaaccaccacctaaaaacca	5	17	1	0			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:214546172C>G	ENST00000366956.5	-	16	3112	c.2918G>C	c.(2917-2919)gGc>gCc	p.G973A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	973	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTGCCCCGCCAACCACCAC	0.527																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2917-2919)gGc>gCc		protein tyrosine phosphatase, non-receptor type 14							63	61	62					1																	214546172		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214546172C>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2918G>C	1.37:g.214546172C>G	ENSP00000355923:p.Gly973Ala					PTPN14_ENST00000543945.1_3'UTR	p.G973A	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	16	3112	-			973			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2918G>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643596	0.29246	.	.	ENSG00000152104	ENST00000366956	D	0.83163	-1.69	5.4	2.21	0.28008	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.162448	0.56097	D	0.000033	T	0.78848	0.4348	L	0.49513	1.565	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74150	-0.3758	10	0.39692	T	0.17	.	16.7287	0.85430	0.0:0.6401:0.3599:0.0	.	973	Q15678	PTN14_HUMAN	A	973	ENSP00000355923:G973A	ENSP00000355923:G973A	G	-	2	0	PTPN14	212612795	0.998000	0.40836	0.097000	0.21041	0.348000	0.29142	4.780000	0.62382	0.710000	0.31997	0.650000	0.86243	GGC		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		4	41	0	0	0	1	0	4	41					G	214546172	C	G	214546172	3	3	12	1	0	0	0	0	1	0	0	0	12783	739	26	5	661	5	PTPN14	1	214546172	Missense_Mutation	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	28653467	214546172	34704449	3	210										
TTN	7273	broad.mit.edu	37	chr2	179398050	179398050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	ctgtgactctataataacccGtgtcttcaggcaaagtgtcc	8	11	3	1	rs192001910		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr2:179398050G>A	ENST00000591111.1	-	308	98593	c.98369C>T	c.(98368-98370)aCg>aTg	p.T32790M	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34431M|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32790	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATAACCCGTGTCTTCAGG	0.488													G|||	1	0.000199681	0	0	5008	,	,		21287	0		0.001	False		,,,				2504	0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103291-103293)aCg>aTg		titin		G	MET/THR,MET/THR,MET/THR,MET/THR	0,3992		0,0,1996	75	74	74		76097,95588,76472,76673	5.7	1	2		74	10,8336		0,10,4163	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	81,81,81,81	0,10,6159	AA,AG,GG		0.1198,0.0,0.0811	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25366/26927,31863/33424,25491/27052,25558/27119	179398050	10,12328	1996	4173	6169	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398050G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98369C>T	2.37:g.179398050G>A	ENSP00000465570:p.Thr32790Met					TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32790M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN-AS1_ENST00000456053.1_RNA	p.T34431M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103516	-			32790					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.103292C>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.18	3.049212	0.55110	0.0	0.001198	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69305	0.3096	L	0.41961	1.31	0.36384	D	0.862113	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.58577	0.841;0.841;0.841;0.841	T	0.76397	-0.2974	9	0.87932	D	0	.	15.3087	0.74014	0.0:0.1806:0.8194:0.0	.	25366;25491;25558;32790	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	31863;25366;25558;25491;25363	ENSP00000343764:T31863M;ENSP00000434586:T25366M;ENSP00000340554:T25558M;ENSP00000352154:T25491M	ENSP00000340554:T25558M	T	-	2	0	TTN	179106296	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	5.301000	0.65727	2.688000	0.91661	0.555000	0.69702	ACG		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	58	0	0	0	1	0	4	58					A	179398050	G	A	179398050	3	1	12	1	0	0	0	0	1	0	0	0	16732	1145	40	1	4707	1	TTN	2	179398050	Missense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		179398050	63801323	4	211										
SH3TC1	54436	broad.mit.edu	37	chr4	8242527	8242527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	tctacacgcggctggccaccAtctaccacaacttcctcctg	6	18	2	0			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:8242527A>G	ENST00000245105.3	+	18	3923	c.3856A>G	c.(3856-3858)Atc>Gtc	p.I1286V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.I1210V	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1286										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGGCCACCATCTACCACAA	0.612																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3628-3630)Atc>Gtc		SH3 domain and tetratricopeptide repeats 1							84	87	86					4																	8242527		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8242527A>G	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3856A>G	4.37:g.8242527A>G	ENSP00000245105:p.Ile1286Val					SH3TC1_ENST00000245105.3_Missense_Mutation_p.I1286V	p.I1210V			Q8TE82	S3TC1_HUMAN			18	4002	+			1286					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.3628A>G	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051497	0.55218	.	.	ENSG00000125089	ENST00000245105;ENST00000539824	T;T	0.76448	-1.02;-1.02	4.18	1.73	0.24493	Tetratricopeptide-like helical (1);	0.068244	0.64402	N	0.000020	T	0.73164	0.3552	L	0.54323	1.7	0.37746	D	0.925807	B	0.30511	0.282	B	0.39805	0.31	T	0.65784	-0.6084	9	.	.	.	-21.9087	8.2853	0.31924	0.8343:0.0:0.1657:0.0	.	1286	Q8TE82	S3TC1_HUMAN	V	1286;1210	ENSP00000245105:I1286V;ENSP00000441045:I1210V	.	I	+	1	0	SH3TC1	8293427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.575000	0.46025	0.207000	0.20607	0.444000	0.29173	ATC		0.612	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	34	0	0	0	1	0	5	34					G	8242527	A	G	8242527	3	3	12	1	0	0	0	0	1	0	0	0	14261	217	8	4	3922	4	SH3TC1	4	8242527	Missense_Mutation	SNP	A	TCGA-QR-A6GS-01A-11D-A35D-08		8242527	182911749	5	212										
RBM47	54502	broad.mit.edu	37	chr4	40440293	40440293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	ttgcggcgagccatggcagcCgcgcggtggctctcgtactc	15	14	1	0			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:40440293C>T	ENST00000381793.2	-	3	1014	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RBM47_ENST00000295971.7_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A|RBM47_ENST00000319592.4_Silent_p.A206A|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A206A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCATGGCAGCCGCGCGGTGGC	0.672																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(616-618)gcG>gcA		RNA binding motif protein 47							42	39	40					4																	40440293		2203	4298	6501	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440293C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.618G>A	4.37:g.40440293C>T						RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A206A|RBM47_ENST00000381793.2_Silent_p.A206A|RBM47_ENST00000295971.7_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A	p.A206A			A0AV96	RBM47_HUMAN			4	1327	-			206			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.618G>A	CCDS43223.1																																																																																				0.672	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		4	37	0	0	0	1	0	4	37					T	40440293	C	T	40440293	2	4	12	1	0	0	0	0	0	0	0	1	13141	639	23	2		2	RBM47	4	40440293	Silent	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	32197766	40440293	150713983	6	213										
AMBN	258	broad.mit.edu	37	chr4	71467156	71467156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	atgaatattctttgcctgtgCatcccccacctctcccatca	4	16	3	1			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:71467156C>T	ENST00000322937.6	+	6	419	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	AMBN_ENST00000449493.2_Intron	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	106					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTTGCCTGTGCATCCCCCACC	0.488											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(316-318)Cat>Tat		ameloblastin (enamel matrix protein)							123	129	127					4																	71467156		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467156C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.316C>T	4.37:g.71467156C>T	ENSP00000313809:p.His106Tyr		OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130	AMBN_ENST00000449493.2_Intron	p.H106Y	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		6	419	+			106					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.316C>T	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198096	0.79015	.	.	ENSG00000178522	ENST00000322937;ENST00000538728	T	0.35421	1.31	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.60170	0.2248	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62086	-0.6928	10	0.87932	D	0	-17.133	15.4216	0.75015	0.0:1.0:0.0:0.0	.	106	Q9NP70	AMBN_HUMAN	Y	106	ENSP00000313809:H106Y	ENSP00000313809:H106Y	H	+	1	0	AMBN	71501745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.788000	0.55446	2.716000	0.92895	0.563000	0.77884	CAT		0.488	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		4	108	0	0	0	1	0	4	108					T	71467156	C	T	71467156	3	4	12	1	0	0	0	0	1	0	0	0	563	710	25	3	338	3	AMBN	4	71467156	Missense_Mutation	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	31026863	71467156	119687120	7	214										
PDE4D	5144	broad.mit.edu	37	chr5	58273098	58273098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	gtcacagttttcttcctgaaGcaatttaaagcccacagcca	6	12	2	1			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr5:58273098G>T	ENST00000340635.6	-	12	1802	c.1627C>A	c.(1627-1629)Ctt>Att	p.L543I	PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L479I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	543					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTTCCTGAAGCAATTTAAAG	0.368																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1627-1629)Ctt>Att		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						134	124	127					5																	58273098		1835	4092	5927	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58273098G>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1627C>A	5.37:g.58273098G>T	ENSP00000345502:p.Leu543Ile					PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L479I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I	p.L543I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	12	1802	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	543					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1627C>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452141	0.84209	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.56	5.56	0.83823	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060455	0.64402	D	0.000002	D	0.86661	0.5986	M	0.71296	2.17	0.58432	D	0.999997	P;D;P;D;D;P;P;P	0.59767	0.938;0.98;0.938;0.986;0.986;0.938;0.692;0.817	D;D;D;D;D;D;P;P	0.77004	0.973;0.989;0.973;0.966;0.966;0.973;0.649;0.63	D	0.87189	0.2233	10	0.87932	D	0	.	13.9106	0.63864	0.0722:0.0:0.9278:0.0	.	482;543;479;406;421;413;318;252	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	543;412;407;479;241;252;413;421;482;482;241	ENSP00000345502:L543I;ENSP00000353152:L407I;ENSP00000424852:L479I;ENSP00000351800:L241I;ENSP00000321739:L252I;ENSP00000425605:L413I;ENSP00000384806:L421I;ENSP00000423094:L482I;ENSP00000442734:L482I;ENSP00000421013:L241I	ENSP00000321739:L252I	L	-	1	0	PDE4D	58308855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.826000	0.86716	2.890000	0.99128	0.655000	0.94253	CTT		0.368	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			8	67	1	0	0.335167	1	0.335167	8	67					T	58273098	G	T	58273098	3	4	12	1	0	0	0	0	1	0	0	0	11642	971	34	5	818	5	PDE4D	5	58273098	Missense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		58273098	122642162	8	215										
DCHS1	8642	broad.mit.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-													0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	gcacctggcaccccagccccCagcagcagcagcagcagcag					rs370785084|rs372916982		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-99)del		dachsous cadherin-related 1				54,415,3471		8,0,38,73,269,1582						5.3	1		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662746_6662748delCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del						p.L33del	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	508_510	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Del	DEL	ENST00000299441.3	37	c.97_99delCTG	CCDS7771.1																																																																																				0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	6						4	6	---	---	---	---	-	6662748	CAG	-	6662746	7	5	12	1	0	1	0	1	0	0	0	0	4287	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-QR-A6GS-01A-11D-A35D-08		6662746	128343770	9	216										
KRT83	3889	broad.mit.edu	37	chr12	52714802	52714802	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	tccttctcctcctgcttcacGcactgcgcgttggggtctat	9	15	3	0	rs570205730		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr12:52714802G>T	ENST00000293670.3	-	1	380	c.318C>A	c.(316-318)tgC>tgA	p.C106*		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	106	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGCGCGT	0.617																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(316-318)tgC>tgA		keratin 83							196	173	181					12																	52714802		2203	4300	6503	SO:0001587	stop_gained	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52714802G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.318C>A	12.37:g.52714802G>T	ENSP00000293670:p.Cys106*						p.C106*	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	380	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		106			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Nonsense_Mutation	SNP	ENST00000293670.3	37	c.318C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170263	0.94768	.	.	ENSG00000170523	ENST00000293670	.	.	.	4.69	1.82	0.25136	.	0.180281	0.26951	N	0.021677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	0.4251	0.00462	0.2453:0.1922:0.3269:0.2356	.	.	.	.	X	106	.	ENSP00000293670:C106X	C	-	3	2	KRT83	51001069	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.306000	0.02735	0.676000	0.31285	0.650000	0.86243	TGC		0.617	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	159	1	0	3.59834e-05	1	3.8465e-05	5	159					T	52714802	G	T	52714802	4	4	12	1	0	0	0	0	0	1	0	0	8497	1079	38	5	1199	5	KRT83	12	52714802	Nonsense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		52714802	81137093	10	217										
GCHFR	2644	broad.mit.edu	37	chr15	41059517	41059517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	agcatgacgggggtgggccaGacgctggtgtggtgtctgca	19	8	1	2			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:41059517G>C	ENST00000260447.4	+	3	386	c.225G>C	c.(223-225)caG>caC	p.Q75H	DNAJC17_ENST00000558727.1_5'Flank|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000558467.1_Missense_Mutation_p.Q58H|GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.Q58H	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	75					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGGTGGGCCAGACGCTGGTGT	0.602																																						ENST00000558467.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6						c.(172-174)caG>caC		GTP cyclohydrolase I feedback regulator							114	105	108					15																	41059517		2203	4300	6503	SO:0001583	missense	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41059517G>C	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"GTP cyclohydrolase I feedback regulatory protein"			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.225G>C	15.37:g.41059517G>C	ENSP00000260447:p.Gln75His					GCHFR_ENST00000559932.1_Missense_Mutation_p.Q58H|GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H|GCHFR_ENST00000260447.4_Missense_Mutation_p.Q75H|GCHFR_ENST00000558670.1_3'UTR	p.Q58H			P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	396	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	75					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	c.174G>C	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831679	0.91036	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83626	0.5295	.	.	.	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.997;0.998	D	0.84553	0.0645	8	0.66056	D	0.02	-21.6276	19.642	0.95762	0.0:0.0:1.0:0.0	.	64;75	B7ZLM8;P30047	.;GFRP_HUMAN	H	75	.	ENSP00000260447:Q75H	Q	+	3	2	GCHFR	38846809	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.152000	0.71812	2.815000	0.96918	0.561000	0.74099	CAG		0.602	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		29	48	0	0	0	1	0	29	48					C	41059517	G	C	41059517	3	2	12	1	0	0	0	0	1	0	0	0	6292	933	33	5	235	5	GCHFR	15	41059517	Missense_Mutation	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		41059517	61471875	11	218										
CEP152	22995	broad.mit.edu	37	chr15	49033855	49033855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	aggtgtttccagtaattttgCcattgtagcaagtttgctag	10	6	0	0			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:49033855C>T	ENST00000380950.2	-	26	4223	c.4036G>A	c.(4036-4038)Gca>Aca	p.A1346T	CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T|CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1346					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGTAATTTTGCCATTGTAGCA	0.353																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(4036-4038)Gca>Aca		centrosomal protein 152kDa							204	192	196					15																	49033855		1839	4098	5937	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49033855C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4036G>A	15.37:g.49033855C>T	ENSP00000370337:p.Ala1346Thr					CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T|CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T	p.A1346T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	26	4223	-		all_lung(180;0.0428)	1290					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.4036G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254549	0.95336	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.70869	-0.23;-0.52;-0.12	5.87	5.87	0.94306	.	0.066466	0.64402	D	0.000015	D	0.83413	0.5249	M	0.68593	2.085	0.58432	D	0.999998	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.66847	0.856;0.947;0.947	D	0.83759	0.0213	10	0.72032	D	0.01	-8.8947	20.2147	0.98293	0.0:1.0:0.0:0.0	.	1253;1346;1290	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	T	1346;1253;1290	ENSP00000370337:A1346T;ENSP00000321000:A1253T;ENSP00000382271:A1290T	ENSP00000321000:A1253T	A	-	1	0	CEP152	46821147	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.247000	0.78257	2.785000	0.95823	0.591000	0.81541	GCA		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		4	94	0	0	0	1	0	4	94					T	49033855	C	T	49033855	3	4	12	1	0	0	0	0	1	0	0	0	3248	739	26	3	1104	3	CEP152	15	49033855	Missense_Mutation	SNP	C	TCGA-QR-A6GS-01A-11D-A35D-08	7974338	49033855	53497537	12	219										
NF1	4763	broad.mit.edu	37	chr17	29541604	29541604	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	atccaaagctcttgctttgtGtaagtatttttttatgaaat	6	5	1	1			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:29541604G>T	ENST00000358273.4	+	13	1910		c.e13+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTGCTTTGTGTAAGTATTTT	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000959|CS040856|CS086407|CS993383	NF1	D|S		c.e13+1		neurofibromin 1							40	41	41					17																	29541604		2203	4298	6501	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29541604G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1527+1G>T	17.37:g.29541604G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	13	1910	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461406	0.84317	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0231	0.92922	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26565730	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.216000	0.95154	2.493000	0.84123	0.591000	0.81541	.		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	8	4	1	0	2.17888e-05	1	2.41233e-05	8	4					T	29541604	G	T	29541604	5	4	12	1	0	0	0	0	0	0	1	0	10356	1391	48	5	1578	5	NF1	17	29541604	Splice_Site	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		29541604	51653606	13	220										
AATK	9625	broad.mit.edu	37	chr17	79104882	79104882	+	Frame_Shift_Del	DEL	C	C	-													0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	tgagcgcccaggctgcttggCcatgggcaaggagacctccg							TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:79104882delC	ENST00000326724.4	-	3	337	c.313delG	c.(313-315)gccfs	p.A105fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.A2fs|AATK_ENST00000572339.1_5'Flank|MIR1250_ENST00000408098.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	105					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCTGCTTGGCCATGGGCAAG	0.711																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(313-315)ccfs		apoptosis-associated tyrosine kinase							11	17	15					17																	79104882		1971	4079	6050	SO:0001589	frameshift_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79104882delC	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.313delG	17.37:g.79104882delC	ENSP00000324196:p.Ala105fs					AATK_ENST00000417379.1_Frame_Shift_Del_p.A2fs	p.A105fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		3	337	-	all_neural(118;0.101)		105					O75136|Q6ZN31|Q86X28	Frame_Shift_Del	DEL	ENST00000326724.4	37	c.313delG	CCDS45807.1																																																																																				0.711	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		2	4						2	4	---	---	---	---	-	79104882	C	-	79104882	7	5	12	1	0	1	0	1	0	0	0	0	26	739	26	0	3859	0	AATK	17	79104882	Frame_Shift_Del	DEL	C	TCGA-QR-A6GS-01A-11D-A35D-08	49563278	79104882	2090328	14	221										
NAPB	63908	broad.mit.edu	37	chr20	23375633	23375633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	cttggctgcaattgtaaaccTtccctaggggaaaaaacaag	9	9	0	0	rs373515530		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr20:23375633T>A	ENST00000377026.4	-	5	431	c.346A>T	c.(346-348)Agg>Tgg	p.R116W	NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	116					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					ATTGTAAACCTTCCCTAGGGG	0.413																																						ENST00000377026.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(346-348)Agg>Tgg		N-ethylmaleimide-sensitive factor attachment protein, beta		T	TRP/ARG	0,4406		0,0,2203	137	121	126		346	3.1	1	20		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	NAPB	NM_022080.2	101	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging	116/299	23375633	1,13005	2203	4300	6503	SO:0001583	missense	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23375633T>A	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.346A>T	20.37:g.23375633T>A	ENSP00000366225:p.Arg116Trp					NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W	p.R116W	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN			5	431	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		116					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	c.346A>T	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567842	0.65651	0.0	1.16E-4	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.38401	1.14;1.14;1.14	5.46	3.06	0.35304	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78450	-0.2199	10	0.87932	D	0	-14.2689	12.2263	0.54461	0.0:0.0:0.4388:0.5612	.	77;22;120;116	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	W	116;22;77;73	ENSP00000366225:R116W;ENSP00000381459:R22W;ENSP00000413600:R77W	ENSP00000366225:R116W	R	-	1	2	NAPB	23323633	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	2.200000	0.42724	0.313000	0.23062	0.454000	0.30748	AGG		0.413	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		18	24	0	0	0	1	0	18	24					A	23375633	T	A	23375633	3	1	12	1	0	0	0	0	1	0	0	0	10162	1608	56	5	578	5	NAPB	20	23375633	Missense_Mutation	SNP	T	TCGA-QR-A6GS-01A-11D-A35D-08		23375633	39649887	15	222										
SCUBE1	80274	broad.mit.edu	37	chr22	43606947	43606947	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	cttttgcagtgtgtgacgttGgtggagccatcgaagtctgt	14	7	1	1			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr22:43606947G>T	ENST00000360835.4	-	18	2490	c.2364C>A	c.(2362-2364)acC>acA	p.T788T	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	788					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTGTGACGTTGGTGGAGCCAT	0.642																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2362-2364)acC>acA		signal peptide, CUB domain, EGF-like 1							204	181	189					22																	43606947		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606947G>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2364C>A	22.37:g.43606947G>T							p.T788T	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			18	2490	-		all_neural(38;0.0414)|Ovarian(80;0.07)	788					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2364C>A	CCDS14048.1																																																																																				0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		15	32	1	0	3.52763e-06	1	4.05024e-06	15	32					T	43606947	G	T	43606947	2	4	12	1	0	0	0	0	0	0	0	1	13944	1335	47	5		5	SCUBE1	22	43606947	Silent	SNP	G	TCGA-QR-A6GS-01A-11D-A35D-08		43606947	7697619	16	223										
GPR64	10149	broad.mit.edu	37	chrX	19027845	19027845	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.13157894736842	3.96052631578947	0	1	1	0	agaaggggaggttagacttaTagtcgtgtttgaaaagttca	13	3	1	3			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chrX:19027845T>C	ENST00000379869.3	-	18	1484	c.1321A>G	c.(1321-1323)Ata>Gta	p.I441V	GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000354791.3_Missense_Mutation_p.I425V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000379873.2_Missense_Mutation_p.I441V|GPR64_ENST00000357991.3_Missense_Mutation_p.I438V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	441					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTTAGACTTATAGTCGTGTTT	0.393																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1273-1275)Ata>Gta		G protein-coupled receptor 64							133	112	119					X																	19027845		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19027845T>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1321A>G	X.37:g.19027845T>C	ENSP00000369198:p.Ile441Val					GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000379869.3_Missense_Mutation_p.I441V|GPR64_ENST00000357991.3_Missense_Mutation_p.I438V|GPR64_ENST00000379873.2_Missense_Mutation_p.I441V|GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V	p.I425V			Q8IZP9	GPR64_HUMAN			17	1514	-	Hepatocellular(33;0.183)		441					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1273A>G	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322015	0.23994	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.35973	1.35;1.47;1.47;1.48;1.48;1.51;1.48;1.51;1.51;1.28	6.17	5.0	0.66597	.	0.000000	0.64402	D	0.000005	T	0.26882	0.0658	L	0.35487	1.065	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B;B;B	0.31790	0.296;0.232;0.34;0.057;0.057;0.34;0.34;0.34;0.34;0.057;0.23	B;B;B;B;B;B;B;B;B;B;B	0.36959	0.068;0.113;0.237;0.054;0.054;0.237;0.237;0.237;0.237;0.082;0.119	T	0.20874	-1.0262	10	0.32370	T	0.25	.	4.7154	0.12893	0.1435:0.1606:0.0:0.6959	.	411;403;411;417;425;441;419;427;438;441;425	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	V	441;425;425;417;411;441;419;438;427;411	ENSP00000369202:I441V;ENSP00000369207:I425V;ENSP00000346845:I425V;ENSP00000369205:I417V;ENSP00000350152:I411V;ENSP00000369198:I441V;ENSP00000353421:I419V;ENSP00000350680:I438V;ENSP00000349015:I427V;ENSP00000344972:I411V	ENSP00000344972:I411V	I	-	1	0	GPR64	18937766	0.948000	0.32251	0.727000	0.30756	0.877000	0.50540	1.084000	0.30828	0.919000	0.36945	0.486000	0.48141	ATA		0.393	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			3	81	0	0	0	1	0	3	81					C	19027845	T	C	19027845	3	2	12	1	0	0	0	0	1	0	0	0	6705	1406	49	4	1780	4	GPR64	23	19027845	Missense_Mutation	SNP	T	TCGA-QR-A6GS-01A-11D-A35D-08		19027845	136242715	17	224										
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	865	0	0	0	1	0	7	865					G	152128186	A	G	152128186	2	3	13	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		152128186	97122435	1	225										
INSRR	3645	broad.mit.edu	37	chr1	156815542	156815542	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	cagcagtcggactccatctcGgcctcaggatccccgtcttc	9	17	3	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:156815542G>A	ENST00000368195.3	-	10	2439	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	681	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCCATCTCGGCCTCAGGAT	0.637																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2041-2043)gcC>gcT		insulin receptor-related receptor							43	38	40					1																	156815542		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815542G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2043C>T	1.37:g.156815542G>A						NTRK1_ENST00000392302.2_Intron	p.A681A	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			10	2439	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		681			Fibronectin type-III 2.		O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.2043C>T	CCDS1160.1																																																																																				0.637	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		10	43	0	0	0	1	0	10	43					A	156815542	G	A	156815542	2	1	13	1	0	0	0	0	0	0	0	1	7774	1103	39	2		2	INSRR	1	156815542	Silent	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08	4687356	156815542	92435079	2	226										
BAT2L2	23215	broad.mit.edu	37	chr1	171501630	171501630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	agaacgtgctcgtaaacggcGtgaagaggaagagcgaagaa	15	6	0	5			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:171501630G>A	ENST00000338920.4	+	12	1634	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R466H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	466					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CGTAAACGGCGTGAAGAGGAA	0.458																																						ENST00000367742.3																			0											c.(1402-1404)cGt>cAt		proline-rich coiled-coil 2C							75	67	70					1																	171501630		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171501630G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1397G>A	1.37:g.171501630G>A	ENSP00000343629:p.Arg466His					PRRC2C_ENST00000338920.4_Missense_Mutation_p.R466H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R468H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R466H	p.R468H			Q9Y520	PRC2C_HUMAN			12	1645	+			466		E -> G (in dbSNP:rs704839).	Glu-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.1403G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609238	0.66558	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	6.02	6.02	0.97574	.	0.000000	0.44902	D	0.000406	T	0.39682	0.1087	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.15694	-1.0428	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	466;468	Q9Y520-4;E7EPN9	.;.	H	468;466;466;468;466;222;224	ENSP00000375928:R468H;ENSP00000410219:R466H;ENSP00000356716:R468H;ENSP00000343629:R466H	ENSP00000343629:R466H	R	+	2	0	PRRC2C	169768254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.244000	0.95423	2.857000	0.98124	0.650000	0.86243	CGT		0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		5	16	0	0	0	1	0	5	16					A	171501630	G	A	171501630	3	1	13	1	0	0	0	0	1	0	0	0	1321	1145	40	1	1439	1	BAT2L2	1	171501630	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08	14686088	171501630	77748991	3	227										
FAM129A	116496	broad.mit.edu	37	chr1	184764710	184764710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	cccattcgtatcttcttccaTcactggagcagagtccactg	7	14	3	1			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr1:184764710T>G	ENST00000367511.3	-	14	2381	c.2188A>C	c.(2188-2190)Atg>Ctg	p.M730L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	730	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTCTTCCATCACTGGAGCA	0.542																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2188-2190)Atg>Ctg		family with sequence similarity 129, member A							109	112	111					1																	184764710		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764710T>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2188A>C	1.37:g.184764710T>G	ENSP00000356481:p.Met730Leu					FAM129A_ENST00000487074.1_5'UTR	p.M730L	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			14	2381	-			730			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2188A>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	8.971	0.972886	0.18736	.	.	ENSG00000135842	ENST00000367511	T	0.08807	3.05	5.44	-1.3	0.09259	.	4.094370	0.00616	N	0.000432	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37126	-0.9719	10	0.27785	T	0.31	0.53	7.2189	0.25975	0.0:0.3893:0.1292:0.4814	.	730	Q9BZQ8	NIBAN_HUMAN	L	730	ENSP00000356481:M730L	ENSP00000356481:M730L	M	-	1	0	FAM129A	183031333	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.071000	0.11505	-0.198000	0.10333	0.402000	0.26972	ATG		0.542	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			28	88	0	0	0	1	0	28	88					G	184764710	T	G	184764710	3	3	13	1	0	0	0	0	1	0	0	0	5436	1435	50	5	602	5	FAM129A	1	184764710	Missense_Mutation	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08	13263080	184764710	64485911	4	228										
RPS27A	6233	broad.mit.edu	37	chr2	55460001	55460001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	ccttacggggaagaccatcaCcctcgaggtacgggccgggt	14	13	1	1	rs575180825		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:55460001C>T	ENST00000272317.6	+	2	365	c.41C>T	c.(40-42)aCc>aTc	p.T14I	CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	14	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						AAGACCATCACCCTCGAGGTA	0.537																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(40-42)aCc>aTc		ribosomal protein S27a							26	28	27					2																	55460001		2203	4300	6503	SO:0001583	missense	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55460001C>T	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"S ribosomal proteins"	10417	protein-coding gene	gene with protein product	"ubiquitin carboxyl extension protein 80"	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.41C>T	2.37:g.55460001C>T	ENSP00000272317:p.Thr14Ile					RPS27A_ENST00000402285.3_Missense_Mutation_p.T14I|RPS27A_ENST00000404735.1_Missense_Mutation_p.T14I	p.T14I	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			2	365	+			14			Ubiquitin-like.		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000272317.6	37	c.41C>T	CCDS33202.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980442	0.74474	.	.	ENSG00000143947	ENST00000402285;ENST00000272317;ENST00000449323;ENST00000404735	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.54	5.54	0.83059	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	M	0.62016	1.91	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.70178	-0.4943	10	0.56958	D	0.05	.	17.6569	0.88180	0.0:1.0:0.0:0.0	.	14	P62979	RS27A_HUMAN	I	14	ENSP00000383981:T14I;ENSP00000272317:T14I;ENSP00000408482:T14I;ENSP00000385659:T14I	ENSP00000272317:T14I	T	+	2	0	RPS27A	55313505	1.000000	0.71417	0.975000	0.42487	0.844000	0.47949	7.504000	0.81646	2.603000	0.88011	0.655000	0.94253	ACC		0.537	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			4	8	0	0	0	1	0	4	8					T	55460001	C	T	55460001	3	4	13	1	0	0	0	0	1	0	0	0	13639	507	18	3	43	3	RPS27A	2	55460001	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		55460001	187739372	5	229										
PNO1	56902	broad.mit.edu	37	chr2	68400518	68400518	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tccttccaaaatatcaagatGgcaagaactgccatttgcaa							TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:68400518delG	ENST00000263657.2	+	6	751	c.660delG	c.(658-660)atgfs	p.M220fs	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	220	KH.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						ATATCAAGATGGCAAGAACTG	0.403																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(658-660)atfs		partner of NOB1 homolog (S. cerevisiae)							150	151	150					2																	68400518		2203	4300	6503	SO:0001589	frameshift_variant	56902					nucleolus	RNA binding	g.chr2:68400518delG	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.660delG	2.37:g.68400518delG	ENSP00000263657:p.Met220fs						p.M220fs	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN			6	751	+			220			KH.		A8K6Q0|Q53G13|Q8WVB8	Frame_Shift_Del	DEL	ENST00000263657.2	37	c.660delG	CCDS1885.1																																																																																				0.403	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		33	62						33	62	---	---	---	---	-	68400518	G	-	68400518	7	5	13	1	0	1	0	1	0	0	0	0	12161	1348	47	0	682	0	PNO1	2	68400518	Frame_Shift_Del	DEL	G	TCGA-QR-A6GT-01A-11D-A35D-08	12940517	68400518	174798855	6	230										
TTC31	64427	broad.mit.edu	37	chr2	74718668	74718668	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tgcgcaaggttggggattggCccctcagtgcccgcagagag	16	11	1	1	rs199633834		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:74718668C>A	ENST00000233623.5	+	8	752	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	TTC31_ENST00000410003.1_Missense_Mutation_p.P249T|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	249										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGGGGATTGGCCCCTCAGTGC	0.562																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(745-747)Ccc>Acc		tetratricopeptide repeat domain 31							209	202	204					2																	74718668		1908	4120	6028	SO:0001583	missense	64427						binding	g.chr2:74718668C>A	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.745C>A	2.37:g.74718668C>A	ENSP00000233623:p.Pro249Thr					TTC31_ENST00000233623.5_Missense_Mutation_p.P249T|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.P105T	p.P249T			Q49AM3	TTC31_HUMAN			8	754	+			249					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.745C>A	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272142	0.40194	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.64260	1.07;0.01;-0.09	4.31	2.47	0.30058	.	0.427722	0.18017	N	0.154347	T	0.47340	0.1440	L	0.29908	0.895	0.22787	N	0.998739	P;P;P;P	0.37781	0.573;0.608;0.608;0.573	B;B;B;B	0.39217	0.294;0.104;0.154;0.217	T	0.40021	-0.9585	10	0.66056	D	0.02	.	5.931	0.19138	0.0:0.6995:0.1943:0.1062	.	105;219;249;178	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	T	178;249;249;105;249	ENSP00000387213:P249T;ENSP00000416823:P105T;ENSP00000233623:P249T	ENSP00000233623:P249T	P	+	1	0	TTC31	74572176	0.314000	0.24563	0.375000	0.26029	0.329000	0.28539	1.210000	0.32370	0.554000	0.29061	0.561000	0.74099	CCC		0.562	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		5	197	1	0	1.23904e-05	1	1.30917e-05	5	197					A	74718668	C	A	74718668	3	1	13	1	0	0	0	0	1	0	0	0	16697	739	26	5	775	5	TTC31	2	74718668	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	6318150	74718668	168480705	7	231										
TMEFF2	23671	broad.mit.edu	37	chr2	193059174	193059175	+	In_Frame_Ins	INS	-	-	GCAGCA													0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tacgatgagtagcatgacggINSgcagcagcagcagccagcaa							TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr2:193059174_193059175insGCAGCA	ENST00000272771.5	-	1	1260_1261	c.76_77insTGCTGC	c.(76-78)ccc>cTGCTGCcc	p.25_26insLL	TMEFF2_ENST00000409056.3_In_Frame_Ins_p.25_26insLL|TMEFF2_ENST00000392314.1_In_Frame_Ins_p.25_26insLL	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	25						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TAGCATGACGGGCAGCAGCAGC	0.599																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(76-78)cgt>TGCTGCcgt		transmembrane protein with EGF-like and two follistatin-like domains 2																																				SO:0001652	inframe_insertion	23671					extracellular region|integral to membrane		g.chr2:193059174_193059175insGCAGCA	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.71_76dupTGCTGC	2.37:g.193059175_193059180dupGCAGCA	ENSP00000272771:p.Leu24_Leu25dup					TMEFF2_ENST00000272771.5_In_Frame_Ins_p.25_26insCC|TMEFF2_ENST00000392314.1_In_Frame_Ins_p.25_26insCC	p.25_26insCC			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		1	75_76	-			25					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	In_Frame_Ins	INS	ENST00000272771.5	37	c.76_77insTGCTGC	CCDS2314.1																																																																																				0.599	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		10	30						10	30	---	---	---	---	GCAGCA	193059175	-	GCAGCA	193059174	7	5	13	1	0	1	1	0	0	0	0	0	16011	1232	43	0	1087	0	TMEFF2	2	193059174	In_Frame_Ins	INS	-	TCGA-QR-A6GT-01A-11D-A35D-08	118340506	193059174	50140199	8	232										
NEK4	6787	broad.mit.edu	37	chr3	52773447	52773447	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	taataataagctgatcacctGaaggtagctctttaaaatgg	8	6	2	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr3:52773447G>A	ENST00000233027.5	-	14	2499	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEK4_ENST00000535191.1_Missense_Mutation_p.S677L|NEK4_ENST00000383721.4_Missense_Mutation_p.S720L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	766					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CTGATCACCTGAAGGTAGCTC	0.428																																						ENST00000233027.5																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26						c.(2296-2298)tCa>tTa		NIMA-related kinase 4							141	140	140					3																	52773447		2203	4300	6503	SO:0001583	missense	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52773447G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2297C>T	3.37:g.52773447G>A	ENSP00000233027:p.Ser766Leu					NEK4_ENST00000383721.4_Missense_Mutation_p.S720L|NEK4_ENST00000535191.1_Missense_Mutation_p.S677L	p.S766L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	14	2499	-			766					A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	c.2297C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357906	0.41801	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.73363	-0.66;-0.74;-0.62;-0.67	5.63	3.72	0.42706	.	0.898237	0.09563	N	0.785333	T	0.65995	0.2745	L	0.41710	1.295	0.28902	N	0.893198	B;B;B	0.17852	0.005;0.019;0.024	B;B;B	0.15870	0.006;0.014;0.013	T	0.57277	-0.7839	10	0.44086	T	0.13	.	8.8965	0.35467	0.1879:0.0:0.8121:0.0	.	677;720;766	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	L	766;677;720;677	ENSP00000233027:S766L;ENSP00000437703:S677L;ENSP00000373227:S720L;ENSP00000419666:S677L	ENSP00000233027:S766L	S	-	2	0	NEK4	52748487	1.000000	0.71417	0.817000	0.32601	0.988000	0.76386	2.935000	0.48963	0.646000	0.30693	0.650000	0.86243	TCA		0.428	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		34	41	0	0	0	1	0	34	41					A	52773447	G	A	52773447	3	1	13	1	0	0	0	0	1	0	0	0	10326	1294	45	3	240	3	NEK4	3	52773447	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		52773447	145248983	9	233										
SRP72	6731	broad.mit.edu	37	chr4	57350934	57350934	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	cgcaaaatatctgccagtttAcagtcccaaagtcccgagca	7	13	1	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:57350934A>T	ENST00000342756.5	+	10	1711	c.990A>T	c.(988-990)ttA>ttT	p.L330F	SRP72_ENST00000510663.1_Missense_Mutation_p.L269F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	330					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTGCCAGTTTACAGTCCCAAA	0.428																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(988-990)ttA>ttT		signal recognition particle 72kDa							126	118	121					4																	57350934		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57350934A>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.990A>T	4.37:g.57350934A>T	ENSP00000342181:p.Leu330Phe					SRP72_ENST00000510663.1_Missense_Mutation_p.L269F	p.L330F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			10	1711	+	Glioma(25;0.08)|all_neural(26;0.101)		330					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.990A>T	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289483	0.40494	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.80033	-1.33;1.11	5.62	0.552	0.17230	.	0.069697	0.56097	D	0.000022	T	0.80999	0.4732	M	0.72894	2.215	0.58432	D	0.999996	B;B;P	0.51240	0.038;0.049;0.943	B;B;P	0.54312	0.036;0.05;0.748	T	0.75227	-0.3392	10	0.41790	T	0.15	.	4.1332	0.10159	0.5031:0.0:0.3419:0.155	.	269;330;330	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	F	330;275;269;91	ENSP00000342181:L330F;ENSP00000424576:L269F	ENSP00000342181:L330F	L	+	3	2	SRP72	57045691	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.313000	0.19415	0.088000	0.17205	-0.290000	0.09829	TTA		0.428	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			36	76	0	0	0	1	0	36	76					T	57350934	A	T	57350934	3	4	13	1	0	0	0	0	1	0	0	0	15156	388	14	5	1028	5	SRP72	4	57350934	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		57350934	133803342	10	234										
LPHN3	23284	broad.mit.edu	37	chr4	62903516	62903516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	caaaagtacagagagttccaTtggttcagggaaaacatctg	10	7	2	1	rs190804185	byFrequency	TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr4:62903516T>C	ENST00000514591.1	+	23	3784	c.3455T>C	c.(3454-3456)aTt>aCt	p.I1152T	LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000512091.2_Missense_Mutation_p.I1152T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1130					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.I1152N(1)		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						GAGAGTTCCATTGGTTCAGGG	0.403																																						ENST00000512091.1																			1	Substitution - Missense(1)	p.I1152N(1)	lung(1)	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.(3454-3456)aTt>aCt		latrophilin 3							141	143	142					4																	62903516		1983	4174	6157	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903516T>C	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.3455T>C	4.37:g.62903516T>C	ENSP00000422533:p.Ile1152Thr					LPHN3_ENST00000507164.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506746.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000506720.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000506700.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000514157.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000507625.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000504896.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000511324.1_Missense_Mutation_p.I1211T|LPHN3_ENST00000514591.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000545650.1_Missense_Mutation_p.I1152T|LPHN3_ENST00000509896.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000508693.1_Missense_Mutation_p.I1220T|LPHN3_ENST00000514996.1_Missense_Mutation_p.I1143T|LPHN3_ENST00000508946.1_Missense_Mutation_p.I1152T	p.I1152T			Q9HAR2	LPHN3_HUMAN			23	4202	+			1130					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3455T>C	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651016	0.29336	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.33	5.33	0.75918	GPCR, family 2, latrophilin, C-terminal (1);	0.269678	0.38217	N	0.001767	T	0.40015	0.1100	L	0.36672	1.1	0.38069	D	0.936311	B;B;B	0.33777	0.425;0.425;0.241	B;B;B	0.31812	0.136;0.136;0.08	T	0.39035	-0.9633	10	0.23891	T	0.37	.	10.7839	0.46395	0.1415:0.0:0.0:0.8585	.	1152;1130;1152	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	T	1152;1152;1220;1211;1143;1152;1130;1152;1211;1220;1211;1143;1152;1152;1220;1211;1143	ENSP00000423388:I1152T;ENSP00000422533:I1152T;ENSP00000423787:I1220T;ENSP00000425033:I1211T;ENSP00000424120:I1143T;ENSP00000439831:I1152T;ENSP00000421476:I1211T;ENSP00000424030:I1220T;ENSP00000421372:I1211T;ENSP00000425201:I1143T;ENSP00000423434:I1152T;ENSP00000421627:I1152T;ENSP00000420931:I1220T;ENSP00000425884:I1211T;ENSP00000424258:I1143T	ENSP00000280009:I1152T	I	+	2	0	LPHN3	62586111	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.737000	0.55060	2.144000	0.66660	0.528000	0.53228	ATT		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	62	0	0	0	1	0	5	62					C	62903516	T	C	62903516	3	2	13	1	0	0	0	0	1	0	0	0	8917	1493	52	4	3537	4	LPHN3	4	62903516	Missense_Mutation	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08	5552582	62903516	128250760	11	235										
UNC5A	90249	broad.mit.edu	37	chr5	176304658	176304658	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tggggagcccagccctgacaGctggagcctgcgcctcaaaa	13	14	1	1			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr5:176304658G>T	ENST00000329542.4	+	10	1863	c.1589G>T	c.(1588-1590)aGc>aTc	p.S530I	UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	530	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCCTGACAGCTGGAGCCTG	0.647																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1588-1590)aGc>aTc		unc-5 homolog A (C. elegans)							36	34	35					5																	176304658		2203	4298	6501	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304658G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1589G>T	5.37:g.176304658G>T	ENSP00000332737:p.Ser530Ile					UNC5A_ENST00000261961.3_Missense_Mutation_p.S490I	p.S530I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1863	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	530			ZU5.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1589G>T	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428869	0.43122	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.46451	0.87;0.87	5.22	3.16	0.36331	ZU5 (3);	0.153069	0.56097	D	0.000021	T	0.24851	0.0603	N	0.19112	0.55	0.38254	D	0.941688	P	0.34699	0.464	B	0.35073	0.195	T	0.15925	-1.0420	10	0.87932	D	0	-34.9761	4.5003	0.11860	0.335:0.1721:0.4929:0.0	.	530	Q6ZN44	UNC5A_HUMAN	I	530;490	ENSP00000332737:S530I;ENSP00000261961:S490I	ENSP00000261961:S490I	S	+	2	0	UNC5A	176237264	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.349000	0.73013	1.211000	0.43351	0.305000	0.20034	AGC		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		10	25	1	0	1.11149e-13	1	1.19699e-13	10	25					T	176304658	G	T	176304658	3	4	13	1	0	0	0	0	1	0	0	0	16988	971	34	5	1627	5	UNC5A	5	176304658	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		176304658	4610602	12	236										
F13A1	2162	broad.mit.edu	37	chr6	6266931	6266931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gggaagactggatggacagcCgcacagacctgtcctctctc	12	13	1	2	rs142954620		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:6266931C>T	ENST00000264870.3	-	4	696	c.431G>A	c.(430-432)cGg>cAg	p.R144Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	144					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R144Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATGGACAGCCGCACAGACCT	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		17742	0		0	False		,,,				2504	0					ENST00000264870.3																			1	Substitution - Missense(1)	p.R144Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(430-432)cGg>cAg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						131	120	124					6																	6266931		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266931C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.431G>A	6.37:g.6266931C>T	ENSP00000264870:p.Arg144Gln						p.R144Q	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	696	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	144					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.431G>A	CCDS4496.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.23	3.787880	0.70337	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.84660	-1.88	5.65	4.79	0.61399	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.158566	0.48767	N	0.000174	T	0.80768	0.4686	L	0.47190	1.495	0.37891	D	0.930707	D;D	0.65815	0.992;0.995	P;P	0.54965	0.759;0.765	T	0.78922	-0.2013	10	0.22109	T	0.4	.	13.3447	0.60566	0.0:0.9249:0.0:0.0751	.	81;144	F5H080;P00488	.;F13A_HUMAN	Q	144;81	ENSP00000264870:R144Q	ENSP00000264870:R144Q	R	-	2	0	F13A1	6211930	0.412000	0.25392	0.996000	0.52242	0.610000	0.37248	0.950000	0.29122	1.389000	0.46526	0.655000	0.94253	CGG		0.512	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		15	50	0	0	0	1	0	15	50					T	6266931	C	T	6266931	3	4	13	1	0	0	0	0	1	0	0	0	5340	652	23	2	1815	2	F13A1	6	6266931	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		6266931	164848136	13	237										
PPT2	9374	broad.mit.edu	37	chr6	32130673	32130673	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gccggtatctcccacacagcCtggcactccaaccgtaccct	7	19	1	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr6:32130673C>T	ENST00000324816.6	+	9	1423	c.855C>T	c.(853-855)gcC>gcT	p.A285A	EGFL8_ENST00000333845.6_5'Flank|PPT2-EGFL8_ENST00000453656.2_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375137.2_Silent_p.A285A			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	285					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CCCACACAGCCTGGCACTCCA	0.547																																						ENST00000324816.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						c.(853-855)gcC>gcT		palmitoyl-protein thioesterase 2							140	151	147					6																	32130673		2203	4300	6503	SO:0001819	synonymous_variant	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32130673C>T	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.855C>T	6.37:g.32130673C>T						PPT2_ENST00000445576.2_Intron|PPT2_ENST00000375143.2_Silent_p.A285A|PPT2_ENST00000395523.1_Silent_p.A285A|PPT2_ENST00000361568.2_Silent_p.A291A|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375137.2_Silent_p.A285A|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron	p.A285A			Q9UMR5	PPT2_HUMAN			9	1423	+			285					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	ENST00000324816.6	37	c.855C>T	CCDS4742.1																																																																																				0.547	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		51	135	0	0	0	1	0	51	135					T	32130673	C	T	32130673	2	4	13	1	0	0	0	0	0	0	0	1	12412	668	24	3		3	PPT2	6	32130673	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	25863742	32130673	138984394	14	238										
BZW2	28969	broad.mit.edu	37	chr7	16734587	16734587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	accaggaaggaactgcagaaGgagctccaggagcgtctttc	13	10	1	1			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:16734587G>A	ENST00000433922.2	+	8	958	c.780G>A	c.(778-780)aaG>aaA	p.K260K	BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000432311.1_Intron|BZW2_ENST00000405202.1_Silent_p.K184K|BZW2_ENST00000407633.1_Silent_p.K66K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Silent_p.K260K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	260	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AACTGCAGAAGGAGCTCCAGG	0.522																																						ENST00000433922.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(778-780)aaG>aaA		basic leucine zipper and W2 domains 2							61	57	59					7																	16734587		2203	4300	6503	SO:0001819	synonymous_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16734587G>A	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.780G>A	7.37:g.16734587G>A						BZW2_ENST00000405202.1_Silent_p.K184K|BZW2_ENST00000407633.1_Silent_p.K66K|BZW2_ENST00000258761.3_Silent_p.K260K|BZW2_ENST00000452975.2_3'UTR	p.K260K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	8	958	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		260			W2.		A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	c.780G>A	CCDS5362.1																																																																																				0.522	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		3	37	0	0	0	1	0	3	37					A	16734587	G	A	16734587	2	1	13	1	0	0	0	0	0	0	0	1	1579	991	35	3		3	BZW2	7	16734587	Silent	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		16734587	142404076	15	239										
PHTF2	57157	broad.mit.edu	37	chr7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	cgtccaaagtcacagatgctAtagtctggtatcaaaagaag	9	8	3	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:77469597A>G	ENST00000248550.7	+	1	101	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000416283.2_Missense_Mutation_p.I9V|PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318																																						ENST00000416283.2																			2	Substitution - Missense(2)	p.I9V(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(25-27)Ata>Gta		putative homeodomain transcription factor 2							137	130	132					7																	77469597		1844	4093	5937	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77469597A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.25A>G	7.37:g.77469597A>G	ENSP00000248550:p.Ile9Val					PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V	p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			1	151	+			9					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.25A>G		.	.	.	.	.	.	.	.	.	.	A	9.159	1.018293	0.19355	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.69	4.55	0.56014	.	0.195634	0.44688	D	0.000422	T	0.38026	0.1025	N	0.08118	0	0.38251	D	0.941606	B;B;B;B;B;B;B	0.17465	0.0;0.0;0.022;0.002;0.0;0.0;0.019	B;B;B;B;B;B;B	0.20384	0.0;0.001;0.029;0.002;0.0;0.013;0.016	T	0.33033	-0.9884	9	0.87932	D	0	-1.0009	11.2795	0.49186	0.9281:0.0:0.0719:0.0	.	9;9;9;9;9;9;9	Q8N3S3-4;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;PHTF2_HUMAN;.;.;.;.	V	9	.	ENSP00000248550:I9V	I	+	1	0	PHTF2	77307533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.550000	0.67268	0.997000	0.38969	0.533000	0.62120	ATA		0.318	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		9	34	0	0	0	1	0	9	34					G	77469597	A	G	77469597	3	3	13	1	0	0	0	0	1	0	0	0	11863	449	16	4	27	4	PHTF2	7	77469597	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08	60735010	77469597	81669066	16	240										
MLL3	58508	broad.mit.edu	37	chr7	152027726	152027726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	aacagagaccagggagtttgCcgattcctcagacacagatc	10	11	1	3			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr7:152027726C>T	ENST00000262189.6	-	3	567	c.349G>A	c.(349-351)Gca>Aca	p.A117T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A117T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	117					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGGAGTTTGCCGATTCCTCA	0.428																																						ENST00000355193.2																			0											c.(349-351)Gca>Aca		lysine (K)-specific methyltransferase 2C							208	195	199					7																	152027726		2203	4300	6503	SO:0001583	missense	58508							g.chr7:152027726C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.349G>A	7.37:g.152027726C>T	ENSP00000262189:p.Ala117Thr					KMT2C_ENST00000262189.6_Missense_Mutation_p.A117T	p.A117T							3	567	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.349G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628690	0.46944	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	D;D	0.84070	-1.8;-1.8	5.54	2.52	0.30459	.	0.143667	0.31145	N	0.008163	T	0.72890	0.3517	L	0.32530	0.975	0.20873	N	0.999838	B	0.12630	0.006	B	0.12837	0.008	T	0.66404	-0.5932	10	0.59425	D	0.04	.	10.0261	0.42072	0.2451:0.6871:0.0:0.0678	.	117	Q8NEZ4	MLL3_HUMAN	T	117;117;118	ENSP00000262189:A117T;ENSP00000347325:A117T	ENSP00000262189:A117T	A	-	1	0	MLL3	151658659	0.002000	0.14202	0.015000	0.15790	0.994000	0.84299	-0.030000	0.12308	1.303000	0.44873	0.650000	0.86243	GCA		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	101	0	0	0	1	0	4	101					T	152027726	C	T	152027726	3	4	13	1	0	0	0	0	1	0	0	0	9622	739	26	3	14614	3	MLL3	7	152027726	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	74558129	152027726	7110937	17	241										
PPP1R3B	79660	broad.mit.edu	37	chr8	8998550	8998550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gcaaactccattctttcataAgactgaatcttctcgggcaa	6	11	4	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:8998550A>G	ENST00000310455.3	-	2	762	c.612T>C	c.(610-612)tcT>tcC	p.S204S	RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Silent_p.S204S|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	204	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TTCTTTCATAAGACTGAATCT	0.483																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(610-612)tcT>tcC		protein phosphatase 1, regulatory subunit 3B							186	156	166					8																	8998550		2203	4300	6503	SO:0001819	synonymous_variant	79660				glycogen metabolic process			g.chr8:8998550A>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.612T>C	8.37:g.8998550A>G						PPP1R3B_ENST00000519699.1_Silent_p.S204S	p.S204S	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	762	-			204			CBM21.		B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.612T>C	CCDS5973.1																																																																																				0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		3	38	0	0	0	1	0	3	38					G	8998550	A	G	8998550	2	3	13	1	0	0	0	0	0	0	0	1	12372	59	3	4		4	PPP1R3B	8	8998550	Silent	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		8998550	137365472	18	242										
MYST3	7994	broad.mit.edu	37	chr8	41805396	41805396	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	actttgccaaaagacacaggTtttgacaataaatggtactc	7	8	0	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr8:41805396T>A	ENST00000396930.3	-	12	2318	c.1775A>T	c.(1774-1776)aAc>aTc	p.N592I	KAT6A_ENST00000265713.2_Missense_Mutation_p.N592I|KAT6A_ENST00000485568.1_Missense_Mutation_p.N592I|KAT6A_ENST00000406337.1_Missense_Mutation_p.N592I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	592	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AAGACACAGGTTTTGACAATA	0.363																																						ENST00000396930.3																			0											c.(1774-1776)aAc>aTc		K(lysine) acetyltransferase 6A							91	87	88					8																	41805396		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41805396T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1775A>T	8.37:g.41805396T>A	ENSP00000380136:p.Asn592Ile					KAT6A_ENST00000485568.1_Missense_Mutation_p.N592I|KAT6A_ENST00000406337.1_Missense_Mutation_p.N592I|KAT6A_ENST00000265713.2_Missense_Mutation_p.N592I	p.N592I	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			12	2318	-			592			Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1775A>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	6.972	0.549415	0.13374	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.87809	-0.28;-0.28;-0.28;-2.3	5.61	4.44	0.53790	.	0.141911	0.48286	D	0.000190	D	0.94699	0.8290	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.95123	0.8248	10	0.87932	D	0	-27.1949	12.8312	0.57746	0.0:0.0:0.1365:0.8635	.	592;592	A5PLL3;Q92794	.;KAT6A_HUMAN	I	592;592;592;172;592	ENSP00000265713:N592I;ENSP00000385888:N592I;ENSP00000380136:N592I;ENSP00000430606:N592I	ENSP00000265713:N592I	N	-	2	0	KAT6A	41924553	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	8.040000	0.89188	0.937000	0.37394	-0.316000	0.08728	AAC		0.363	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		3	31	0	0	0	1	0	3	31					A	41805396	T	A	41805396	3	1	13	1	0	0	0	0	1	0	0	0	10104	1725	60	5	4267	5	MYST3	8	41805396	Missense_Mutation	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08	32806846	41805396	104558626	19	243										
IPPK	64768	broad.mit.edu	37	chr9	95418813	95418813	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tccactatgttctgcaggtgTtgaaatatctcttccgaggt	9	9	2	1	rs145725375		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:95418813T>C	ENST00000287996.3	-	3	426	c.150A>G	c.(148-150)caA>caG	p.Q50Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	50					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TCTGCAGGTGTTGAAATATCT	0.458																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(148-150)caA>caG		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							129	124	126					9																	95418813		2203	4300	6503	SO:0001819	synonymous_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95418813T>C	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.150A>G	9.37:g.95418813T>C							p.Q50Q	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			3	426	-			50					Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	c.150A>G	CCDS6699.1																																																																																				0.458	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		32	63	0	0	0	1	0	32	63					C	95418813	T	C	95418813	2	2	13	1	0	0	0	0	0	0	0	1	7801	1722	60	4		4	IPPK	9	95418813	Silent	SNP	T	TCGA-QR-A6GT-01A-11D-A35D-08		95418813	45794618	20	244										
RABEPK	10244	broad.mit.edu	37	chr9	127975673	127975673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	acaccagtgggacttagataCctgcaagggcctcttgcccc	10	14	1	1			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr9:127975673C>T	ENST00000373538.3	+	4	546	c.236C>T	c.(235-237)aCc>aTc	p.T79I	RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373544.1_Missense_Mutation_p.T79I	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	79					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GACTTAGATACCTGCAAGGGC	0.488																																						ENST00000373544.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(235-237)aCc>aTc		Rab9 effector protein with kelch motifs							128	120	122					9																	127975673		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127975673C>T	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.236C>T	9.37:g.127975673C>T	ENSP00000362639:p.Thr79Ile					RABEPK_ENST00000373538.3_Missense_Mutation_p.T79I|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000394125.4_Missense_Mutation_p.T79I|RABEPK_ENST00000394124.4_Missense_Mutation_p.T79I	p.T79I			Q7Z6M1	RABEK_HUMAN			5	402	+			79					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.236C>T	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527027	0.27299	.	.	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.47	2.27	0.28462	Galactose oxidase, beta-propeller (1);	0.416266	0.25467	N	0.030478	T	0.20251	0.0487	L	0.36672	1.1	0.09310	N	1	P;P	0.39920	0.655;0.695	P;P	0.46629	0.522;0.473	T	0.05273	-1.0895	10	0.38643	T	0.18	-5.5451	8.0162	0.30383	0.3105:0.5461:0.1433:0.0	.	79;79	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	I	79;79;79;79;162	ENSP00000377683:T79I;ENSP00000362645:T79I;ENSP00000377682:T79I;ENSP00000362639:T79I;ENSP00000402234:T162I	ENSP00000362639:T79I	T	+	2	0	RABEPK	127015494	0.021000	0.18746	0.264000	0.24511	0.626000	0.37791	1.796000	0.38794	1.290000	0.44636	0.591000	0.81541	ACC		0.488	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		6	85	0	0	0	1	0	6	85					T	127975673	C	T	127975673	3	4	13	1	0	0	0	0	1	0	0	0	12963	507	18	3	246	3	RABEPK	9	127975673	Missense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	32556860	127975673	13237758	21	245										
NSUN6	221078	broad.mit.edu	37	chr10	18840857	18840857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	attccactacagggtgcatcCagaagaattcggtcaaagga	10	9	1	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr10:18840857C>T	ENST00000377304.4	-	9	1384	c.966G>A	c.(964-966)ctG>ctA	p.L322L	NSUN6_ENST00000493816.1_5'Flank	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	322							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGGTGCATCCAGAAGAATTC	0.398																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(964-966)ctG>ctA		NOP2/Sun domain family, member 6							123	105	111					10																	18840857		2203	4300	6503	SO:0001819	synonymous_variant	221078						methyltransferase activity|RNA binding	g.chr10:18840857C>T	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.966G>A	10.37:g.18840857C>T							p.L322L	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			9	1384	-			322					B0YJ54	Silent	SNP	ENST00000377304.4	37	c.966G>A	CCDS7130.1																																																																																				0.398	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		4	48	0	0	0	1	0	4	48					T	18840857	C	T	18840857	2	4	13	1	0	0	0	0	0	0	0	1	10682	581	21	3		3	NSUN6	10	18840857	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		18840857	116693890	22	246										
TUB	7275	broad.mit.edu	37	chr11	8111173	8111173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gcagtgtcttagatgatgagGgcagaaacctgaggcagcag	15	7	1	5			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:8111173G>A	ENST00000299506.2	+	2	204	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	TUB_ENST00000534099.1_Missense_Mutation_p.G25S|TUB_ENST00000305253.4_Missense_Mutation_p.G74S	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	19					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGATGATGAGGGCAGAAACCT	0.602																																						ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(220-222)Ggc>Agc		tubby bipartite transcription factor							94	94	94					11																	8111173		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8111173G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.55G>A	11.37:g.8111173G>A	ENSP00000299506:p.Gly19Ser					TUB_ENST00000299506.2_Missense_Mutation_p.G19S|TUB_ENST00000534099.1_Missense_Mutation_p.G25S	p.G74S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	3	461	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	19					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000299506.2	37	c.220G>A	CCDS7787.1	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379574	0.11466	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.84800	-1.86;-1.9;-1.87	4.9	3.97	0.46021	Tubby, N-terminal (1);	0.229124	0.44688	D	0.000436	T	0.62792	0.2457	N	0.05124	-0.11	0.53005	D	0.99996	B;B;B	0.18166	0.015;0.015;0.026	B;B;B	0.24006	0.012;0.012;0.05	T	0.59198	-0.7499	10	0.02654	T	1	-13.8995	5.921	0.19082	0.2636:0.0:0.7364:0.0	.	25;19;74	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	S	25;74;19	ENSP00000434400:G25S;ENSP00000305426:G74S;ENSP00000299506:G19S	ENSP00000299506:G19S	G	+	1	0	TUB	8067749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.842000	0.39250	2.408000	0.81797	0.563000	0.77884	GGC		0.602	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		15	48	0	0	0	1	0	15	48					A	8111173	G	A	8111173	3	1	13	1	0	0	0	0	1	0	0	0	16739	1232	43	3	272	3	TUB	11	8111173	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		8111173	126895343	23	247										
MRGPRX3	117195	broad.mit.edu	37	chr11	18159635	18159635	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tggttctccagagggctctgCaggacacgcctgaggtggat	15	10	2	2	rs202132063		TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr11:18159635C>T	ENST00000396275.2	+	3	1247	c.886C>T	c.(886-888)Cag>Tag	p.Q296*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAGGGCTCTGCAGGACACGCC	0.552																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(886-888)Cag>Tag		MAS-related GPR, member X3							44	48	47					11																	18159635		2200	4291	6491	SO:0001587	stop_gained	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159635C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.886C>T	11.37:g.18159635C>T	ENSP00000379571:p.Gln296*						p.Q296*	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1247	+			296					B0M0L1|Q8TDE0|Q8TDE1	Nonsense_Mutation	SNP	ENST00000396275.2	37	c.886C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538623	0.85917	.	.	ENSG00000179826	ENST00000396275	.	.	.	1.3	1.3	0.21679	.	0.637827	0.14512	N	0.315051	.	.	.	.	.	.	0.39786	D	0.972377	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.9358	0.19165	0.0:1.0:0.0:0.0	.	.	.	.	X	296	.	ENSP00000379571:Q296X	Q	+	1	0	MRGPRX3	18116211	0.324000	0.24652	0.788000	0.31933	0.076000	0.17211	0.194000	0.17135	1.011000	0.39340	0.195000	0.17529	CAG		0.552	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		22	46	0	0	0	1	0	22	46					T	18159635	C	T	18159635	4	4	13	1	0	0	0	0	0	1	0	0	9768	711	25	3	888	3	MRGPRX3	11	18159635	Nonsense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	10048462	18159635	116846881	24	248										
SUPT16H	11198	broad.mit.edu	37	chr14	21825383	21825383	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	attccttgatggggtcaagaGaggctacaggaatggcgttg	15	6	1	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr14:21825383G>A	ENST00000216297.2	-	22	2971	c.2633C>T	c.(2632-2634)tCt>tTt	p.S878F		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2632-2634)tCt>tTt		suppressor of Ty 16 homolog (S. cerevisiae)							187	141	156					14																	21825383		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825383G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2633C>T	14.37:g.21825383G>A	ENSP00000216297:p.Ser878Phe						p.S878F	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2971	-	all_cancers(95;0.00115)		878					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2633C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903200	0.92035	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.62	5.62	0.85841	Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.65975	2.015	0.80722	D	1	D	0.58970	0.984	D	0.65233	0.933	T	0.68349	-0.5432	9	0.11485	T	0.65	-13.1871	18.4299	0.90622	0.0:0.0:1.0:0.0	.	878	Q9Y5B9	SP16H_HUMAN	F	878	.	ENSP00000216297:S878F	S	-	2	0	SUPT16H	20895223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.882000	0.92420	2.646000	0.89796	0.655000	0.94253	TCT		0.433	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	28	0	0	0	1	0	4	28					A	21825383	G	A	21825383	3	1	13	1	0	0	0	0	1	0	0	0	15393	942	33	3	530	3	SUPT16H	14	21825383	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		21825383	85524157	25	249										
TMC7	79905	broad.mit.edu	37	chr16	19056299	19056299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gatgacacatgtgacctttgCggctacaaccagaaactcta	8	11	1	3			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:19056299C>T	ENST00000304381.5	+	10	1561	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	TMC7_ENST00000569532.1_Silent_p.C477C|TMC7_ENST00000421369.3_Silent_p.C367C	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	477					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTGACCTTTGCGGCTACAACC	0.562																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1099-1101)tgC>tgT		transmembrane channel-like 7							117	113	115					16																	19056299		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19056299C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1431C>T	16.37:g.19056299C>T						TMC7_ENST00000304381.5_Silent_p.C477C|TMC7_ENST00000569532.1_Silent_p.C477C	p.C367C	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			10	1659	+			477					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.1101C>T	CCDS10573.1																																																																																				0.562	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	126	0	0	0	1	0	4	126					T	19056299	C	T	19056299	2	4	13	1	0	0	0	0	0	0	0	1	15987	776	27	1		1	TMC7	16	19056299	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08		19056299	71298454	26	250										
ATP2A1	487	broad.mit.edu	37	chr16	28909395	28909395	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	aagtccatgtctgtctattgCtccccagccaaatcttcccg	6	15	3	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr16:28909395C>A	ENST00000357084.3	+	13	1761	c.1494C>A	c.(1492-1494)tgC>tgA	p.C498*	ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373*|ATP2A1_ENST00000395503.4_Nonsense_Mutation_p.C498*	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	498					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGTCTATTGCTCCCCAGCCA	0.542																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1492-1494)tgC>tgA		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							92	94	93					16																	28909395		2197	4300	6497	SO:0001587	stop_gained	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909395C>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1494C>A	16.37:g.28909395C>A	ENSP00000349595:p.Cys498*					ATP2A1_ENST00000536376.1_Nonsense_Mutation_p.C373*|ATP2A1_ENST00000357084.3_Nonsense_Mutation_p.C498*	p.C498*	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			13	1678	+			498					A8K5J9|B3KY17|O14984	Nonsense_Mutation	SNP	ENST00000357084.3	37	c.1494C>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	37	5.981141	0.97168	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	.	.	.	5.35	-2.02	0.07388	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3988	0.44218	0.0:0.5326:0.0:0.4674	.	.	.	.	X	498;498;535;373	.	ENSP00000349595:C498X	C	+	3	2	ATP2A1	28816896	1.000000	0.71417	0.908000	0.35775	0.976000	0.68499	2.155000	0.42301	-0.340000	0.08388	-0.982000	0.02568	TGC		0.542	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		37	74	1	0	3.93418e-24	1	4.31989e-24	37	74					A	28909395	C	A	28909395	4	1	13	1	0	0	0	0	0	1	0	0	1136	805	28	5	1544	5	ATP2A1	16	28909395	Nonsense_Mutation	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	9853096	28909395	61445358	27	251										
ZZEF1	23140	broad.mit.edu	37	chr17	3990757	3990757	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	aatttactgtaaaaattccaGaagatctgcaaatcaagacc	5	8	2	3			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr17:3990757G>C	ENST00000381638.2	-	14	2437	c.2313C>G	c.(2311-2313)ttC>ttG	p.F771L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	771							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAAAATTCCAGAAGATCTGCA	0.308																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2311-2313)ttC>ttG		zinc finger, ZZ-type with EF-hand domain 1							62	67	65					17																	3990757		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3990757G>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2313C>G	17.37:g.3990757G>C	ENSP00000371051:p.Phe771Leu					ZZEF1_ENST00000574474.1_5'UTR	p.F771L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			14	2437	-			771					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.2313C>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629109	0.46944	.	.	ENSG00000074755	ENST00000381638	T	0.19532	2.14	6.06	6.06	0.98353	.	0.046255	0.85682	D	0.000000	T	0.12860	0.0312	N	0.12746	0.255	0.43583	D	0.995927	B;B	0.16802	0.015;0.019	B;B	0.16289	0.011;0.015	T	0.15464	-1.0436	10	0.27082	T	0.32	-20.6388	13.4323	0.61062	0.0719:0.0:0.9281:0.0	.	771;771	O43149-3;O43149	.;ZZEF1_HUMAN	L	771	ENSP00000371051:F771L	ENSP00000371051:F771L	F	-	3	2	ZZEF1	3937506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.299000	0.51826	2.882000	0.98803	0.655000	0.94253	TTC		0.308	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		15	42	0	0	0	1	0	15	42					C	3990757	G	C	3990757	3	2	13	1	0	0	0	0	1	0	0	0	18252	933	33	5	6740	5	ZZEF1	17	3990757	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		3990757	77204453	28	252										
DSC2	1824	broad.mit.edu	37	chr18	28672206	28672206	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	aaccatcctccaaaatttggAagtcaggatcacttgaatga	7	9	2	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:28672206A>C	ENST00000280904.6	-	3	655	c.212T>G	c.(211-213)tTc>tGc	p.F71C	DSC2_ENST00000251081.6_Missense_Mutation_p.F71C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	71					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAAATTTGGAAGTCAGGATC	0.338																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(211-213)tTc>tGc		desmocollin 2							68	67	67					18																	28672206		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672206A>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.212T>G	18.37:g.28672206A>C	ENSP00000280904:p.Phe71Cys					DSC2_ENST00000251081.6_Missense_Mutation_p.F71C	p.F71C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	655	-			71						Missense_Mutation	SNP	ENST00000280904.6	37	c.212T>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708817	0.68615	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.83673	-1.75;-1.75	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33875	N	0.004472	D	0.90903	0.7141	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92181	0.5751	10	0.87932	D	0	.	14.1597	0.65438	1.0:0.0:0.0:0.0	.	71;71	Q02487;Q02487-2	DSC2_HUMAN;.	C	71	ENSP00000251081:F71C;ENSP00000280904:F71C	ENSP00000251081:F71C	F	-	2	0	DSC2	26926204	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.902000	0.69869	2.062000	0.61559	0.374000	0.22700	TTC		0.338	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		5	46	0	0	0	1	0	5	46					C	28672206	A	C	28672206	3	2	13	1	0	0	0	0	1	0	0	0	4766	246	9	5	2589	5	DSC2	18	28672206	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		28672206	49405042	29	253										
ZNF407	55628	broad.mit.edu	37	chr18	72775248	72775248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	agaagcagcaggaggccagcGccgccccctgagcaggtgca	15	14	0	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr18:72775248G>A	ENST00000299687.5	+	8	5571	c.5571G>A	c.(5569-5571)gcG>gcA	p.A1857A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGCCAGCGCCGCCCCCTG	0.682																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5569-5571)gcG>gcA		zinc finger protein 407							46	61	56					18																	72775248		2072	4210	6282	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775248G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5571G>A	18.37:g.72775248G>A							p.A1857A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5571	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1857					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5571G>A	CCDS45885.1																																																																																				0.682	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		21	55	0	0	0	1	0	21	55					A	72775248	G	A	72775248	2	1	13	1	0	0	0	0	0	0	0	1	17884	1074	38	1		1	ZNF407	18	72775248	Silent	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08	44103042	72775248	5302000	30	254										
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000594171.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97	84	88					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		4	120	0	0	0	1	0	4	120					A	39421234	G	A	39421234	3	1	13	1	0	0	0	0	1	0	0	0	13845	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		39421234	19707749	31	255										
RRBP1	6238	broad.mit.edu	37	chr20	17614233	17614233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gaccttgctgagctcctgccGaagcttggccagctctgcgt	12	14	1	1			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chr20:17614233G>A	ENST00000377813.1	-	8	2785	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W|RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R395W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	828					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCTCCTGCCGAAGCTTGGCC	0.592																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2482-2484)Cgg>Tgg		ribosome binding protein 1							71	58	63					20																	17614233		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17614233G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2482C>T	20.37:g.17614233G>A	ENSP00000367044:p.Arg828Trp					RRBP1_ENST00000246043.4_Missense_Mutation_p.R828W|RRBP1_ENST00000360807.4_Missense_Mutation_p.R395W|RRBP1_ENST00000455029.2_Missense_Mutation_p.R169W|RRBP1_ENST00000377807.2_Missense_Mutation_p.R395W	p.R828W			Q9P2E9	RRBP1_HUMAN			8	2785	-			828					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2482C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.937067	0.73557	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.45	4.45	0.53987	.	0.000000	0.33477	N	0.004877	T	0.50803	0.1637	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53528	-0.8426	10	0.72032	D	0.01	-45.066	14.8911	0.70609	0.0:0.0:0.7779:0.2221	.	395	Q9P2E9-3	.	W	395;828;395;828;169	ENSP00000354045:R395W;ENSP00000367044:R828W;ENSP00000367038:R395W;ENSP00000246043:R828W;ENSP00000401206:R169W	ENSP00000246043:R828W	R	-	1	2	RRBP1	17562233	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.637000	0.61346	2.714000	0.92807	0.561000	0.74099	CGG		0.592	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	30	0	0	0	1	0	10	30					A	17614233	G	A	17614233	3	1	13	1	0	0	0	0	1	0	0	0	13678	1057	37	2	1822	2	RRBP1	20	17614233	Missense_Mutation	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08		17614233	45411287	32	256										
MAGEB1	4112	broad.mit.edu	37	chrX	30268674	30268674	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gccgcaaggcgcgagaggagAcccagggtctcaaggttgct	16	11	1	2			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:30268674A>T	ENST00000378981.3	+	4	385	c.64A>T	c.(64-66)Acc>Tcc	p.T22S	MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	22										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCGAGAGGAGACCCAGGGTCT	0.592																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(64-66)Acc>Tcc		melanoma antigen family B, 1							42	33	36					X																	30268674		2202	4299	6501	SO:0001583	missense	4112							g.chrX:30268674A>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.64A>T	X.37:g.30268674A>T	ENSP00000368264:p.Thr22Ser					MAGEB1_ENST00000397548.2_Missense_Mutation_p.T22S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T22S	p.T22S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	385	+			22					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.64A>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641936	0.29157	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.04862	3.54;3.54;3.54	3.99	-2.69	0.06022	Melanoma associated antigen, MAGE, N-terminal (1);	1.616940	0.04049	N	0.304496	T	0.10294	0.0252	L	0.61387	1.9	0.09310	N	1	B	0.34103	0.437	P	0.44422	0.449	T	0.33675	-0.9859	10	0.29301	T	0.29	.	1.0322	0.01540	0.2921:0.1803:0.3488:0.1787	.	22	P43366	MAGB1_HUMAN	S	22	ENSP00000368264:T22S;ENSP00000380683:T22S;ENSP00000380681:T22S	ENSP00000368264:T22S	T	+	1	0	MAGEB1	30178595	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.316000	0.08071	-0.703000	0.05049	0.486000	0.48141	ACC		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		3	10	0	0	0	1	0	3	10					T	30268674	A	T	30268674	3	4	13	1	0	0	0	0	1	0	0	0	9172	275	10	5	66	5	MAGEB1	23	30268674	Missense_Mutation	SNP	A	TCGA-QR-A6GT-01A-11D-A35D-08		30268674	125001886	33	257										
ATRX	546	broad.mit.edu	37	chrX	76939263	76939263	+	Frame_Shift_Del	DEL	T	T	-													0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	ggttcttcttttctatcagaTttcttatgttcaccaccggt							TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:76939263delT	ENST00000373344.5	-	9	1699	c.1485delA	c.(1483-1485)aaafs	p.K495fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	495					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTATCAGATTTCTTATGTT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1483-1485)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						184	188	186					X																	76939263		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939263delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1485delA	X.37:g.76939263delT	ENSP00000362441:p.Lys495fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K457fs	p.K495fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1699	-			495					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1485delA	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		114	172						114	172	---	---	---	---	-	76939263	T	-	76939263	7	5	13	1	0	1	0	1	0	0	0	0	1208	1490	52	0	6101	0	ATRX	23	76939263	Frame_Shift_Del	DEL	T	TCGA-QR-A6GT-01A-11D-A35D-08	46670589	76939263	78331297	34	258										
XPNPEP2	7512	broad.mit.edu	37	chrX	128887218	128887218	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	gagcaggccctcctcaaggcCagccacgtaagtccacgttc	10	16	1	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:128887218C>T	ENST00000371106.3	+	11	1293	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	367						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCCTCAAGGCCAGCCACGTAA	0.547																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1099-1101)gcC>gcT		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							145	113	123					X																	128887218		2203	4299	6502	SO:0001819	synonymous_variant	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128887218C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1101C>T	X.37:g.128887218C>T							p.A367A	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			11	1293	+			367					A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	c.1101C>T	CCDS14613.1																																																																																				0.547	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		30	30	0	0	0	1	0	30	30					T	128887218	C	T	128887218	2	4	13	1	0	0	0	0	0	0	0	1	17440	581	21	3		3	XPNPEP2	23	128887218	Silent	SNP	C	TCGA-QR-A6GT-01A-11D-A35D-08	51947955	128887218	26383342	35	259										
FAM122C	159091	broad.mit.edu	37	chrX	133948879	133948879	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	3	1	1.0725	7.15	0.752631578947368	1	1	0	tttaggaatcgacgctctctGgtaaggaaatgcttatagtg	11	6	1	0			TCGA-QR-A6GT-01A-11D-A35D-08	TCGA-QR-A6GT-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d764f2ea-a12c-4c30-bcb7-1ff571bbc98d	0a8f67e2-b6ef-425c-8af1-81f6b9918c18	g.chrX:133948879G>A	ENST00000370784.4	+	2	595	c.189G>A	c.(187-189)ctG>ctA	p.L63L	FAM122C_ENST00000445123.1_De_novo_Start_OutOfFrame|FAM122C_ENST00000370785.3_Splice_Site_p.L63L|FAM122C_ENST00000414371.2_Splice_Site_p.L99L	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	63										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GACGCTCTCTGGTAAGGAAAT	0.383																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5								family with sequence similarity 122C							108	105	106					X																	133948879		2203	4300	6503	SO:0001630	splice_region_variant	159091							g.chrX:133948879G>A	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.189+1G>A	X.37:g.133948879G>A						FAM122C_ENST00000414371.2_Splice_Site_p.L99_splice|FAM122C_ENST00000370784.4_Splice_Site_p.L63_splice|FAM122C_ENST00000370785.3_Splice_Site_p.L63_splice				Q6P4D5	F222C_HUMAN			0	353	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Translation_Start_Site	SNP	ENST00000370784.4	37		CCDS55501.1																																																																																				0.383	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Silent	39	35	0	0	0	1	0	39	35					A	133948879	G	A	133948879	5	1	13	1	0	0	0	0	0	0	1	0	5421	1362	47	3	498	3	FAM122C	23	133948879	Splice_Site	SNP	G	TCGA-QR-A6GT-01A-11D-A35D-08	5061661	133948879	21321681	36	260										
TMEM53	79639	broad.mit.edu	37	chr1	45120685	45120685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcagaagcgacgggtctgcAggagctccagcacgtagcgg	17	11	1	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:45120685A>T	ENST00000372237.3	-	3	543	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q|TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	127						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACGGGTCTGCAGGAGCTCCAG	0.612											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372237.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(379-381)cTg>cAg		transmembrane protein 53							48	49	49					1																	45120685		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120685A>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.380T>A	1.37:g.45120685A>T	ENSP00000361311:p.Leu127Gln		OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.L97Q|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.L127Q	p.L127Q	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN			3	543	-	Acute lymphoblastic leukemia(166;0.155)		127					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.380T>A	CCDS511.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320057	0.81469	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	5.67	0.87782	.	0.138027	0.49916	D	0.000132	T	0.80497	0.4634	M	0.83953	2.67	0.58432	D	0.999998	D	0.76494	0.999	D	0.76575	0.988	T	0.82074	-0.0637	9	0.48119	T	0.1	.	15.9165	0.79524	1.0:0.0:0.0:0.0	.	127	Q6P2H8	TMM53_HUMAN	Q	127;127;97;96	.	ENSP00000361309:L97Q	L	-	2	0	TMEM53	44893272	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.286000	0.78671	2.169000	0.68431	0.460000	0.39030	CTG		0.612	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		4	59	0	0	0	1	0	4	59					T	45120685	A	T	45120685	3	4	14	1	0	0	0	0	1	0	0	0	16176	188	7	5	457	5	TMEM53	1	45120685	Missense_Mutation	SNP	A	TCGA-QR-A6GU-01A-11D-A35D-08		45120685	204129936	1	261										
SIPA1L2	57568	broad.mit.edu	37	chr1	232600987	232600987	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccagatctttcaagtactCctgcctcgttcgagtggcca	9	14	2	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:232600987C>G	ENST00000366630.1	-	8	2777	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	807	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCAAGTACTCCTGCCTCGTT	0.478																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2419-2421)Gag>Cag		signal-induced proliferation-associated 1 like 2							112	111	112					1																	232600987		1967	4166	6133	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600987C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2419G>C	1.37:g.232600987C>G	ENSP00000355589:p.Glu807Gln					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E807Q	p.E807Q			Q9P2F8	SI1L2_HUMAN			8	2777	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	807			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2419G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906326	0.92107	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.57752	0.38;0.38	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63292	-0.6670	10	0.36615	T	0.2	-38.924	20.053	0.97634	0.0:1.0:0.0:0.0	.	807	Q9P2F8	SI1L2_HUMAN	Q	807	ENSP00000355589:E807Q;ENSP00000262861:E807Q	ENSP00000262861:E807Q	E	-	1	0	SIPA1L2	230667610	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GAG		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	167	0	0	0	1	0	6	167					G	232600987	C	G	232600987	3	3	14	1	0	0	0	0	1	0	0	0	14330	864	30	5	2809	5	SIPA1L2	1	232600987	Missense_Mutation	SNP	C	TCGA-QR-A6GU-01A-11D-A35D-08	187480302	232600987	16649634	2	262										
CHRM3	1131	broad.mit.edu	37	chr1	240072244	240072244	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccctcagtgcgatcttgcTtgccttcatcatcacttgga	8	13	5	0			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr1:240072244T>G	ENST00000255380.4	+	5	2272	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	498					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCGATCTTGCTTGCCTTCATC	0.493																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1492-1494)cTt>cGt		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						157	141	147					1																	240072244		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072244T>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1493T>G	1.37:g.240072244T>G	ENSP00000255380:p.Leu498Arg						p.L498R	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2272	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	498					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1493T>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744112	0.69418	.	.	ENSG00000133019	ENST00000255380	T	0.46063	0.88	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.248418	0.38272	N	0.001751	T	0.66446	0.2790	M	0.79475	2.455	0.58432	D	0.999994	D	0.76494	0.999	D	0.74023	0.982	T	0.70532	-0.4846	10	0.87932	D	0	-12.4968	16.4473	0.83942	0.0:0.0:0.0:1.0	.	498	P20309	ACM3_HUMAN	R	498	ENSP00000255380:L498R	ENSP00000255380:L498R	L	+	2	0	CHRM3	238138867	1.000000	0.71417	0.816000	0.32577	0.985000	0.73830	8.040000	0.89188	2.281000	0.76405	0.533000	0.62120	CTT		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		34	80	0	0	0	1	0	34	80					G	240072244	T	G	240072244	3	3	14	1	0	0	0	0	1	0	0	0	3378	1609	56	5	1495	5	CHRM3	1	240072244	Missense_Mutation	SNP	T	TCGA-QR-A6GU-01A-11D-A35D-08	7471257	240072244	9178377	3	263										
DTNB	1838	broad.mit.edu	37	chr2	25705699	25705699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcactccagaggacatgtGgctaaccatggtgtcattca	12	10	2	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:25705699G>A	ENST00000406818.3	-	10	1294	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y|DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	349						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGACATGTGGCTAACCATG	0.483																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1045-1047)Cac>Tac		dystrobrevin, beta							95	97	96					2																	25705699		2026	4172	6198	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25705699G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1045C>T	2.37:g.25705699G>A	ENSP00000384084:p.His349Tyr					DTNB_ENST00000407661.3_Missense_Mutation_p.H349Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H349Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H292Y|DTNB_ENST00000407186.1_Missense_Mutation_p.H349Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H349Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H349Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H349Y|DTNB_ENST00000545439.1_Missense_Mutation_p.H145Y	p.H349Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			10	1294	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		349					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1045C>T	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907762	0.33721	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.43294	2.28;2.28;2.26;2.29;2.24;2.25;2.25;2.26;0.95	5.13	5.13	0.70059	.	0.063756	0.64402	D	0.000004	T	0.50956	0.1646	M	0.63428	1.95	0.37198	D	0.904257	P;B;B;B;B;B;B;P;B;B;B;P	0.42993	0.697;0.004;0.006;0.004;0.004;0.004;0.003;0.697;0.014;0.004;0.006;0.797	B;B;B;B;B;B;B;B;B;B;B;P	0.48770	0.37;0.002;0.02;0.012;0.005;0.009;0.007;0.296;0.02;0.006;0.02;0.589	T	0.59306	-0.7479	10	0.51188	T	0.08	-21.6873	14.4411	0.67318	0.0:0.0:1.0:0.0	.	349;145;292;349;349;292;349;349;349;349;349;349	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	Y	292;349;349;349;349;349;349;349;145;202	ENSP00000444463:H292Y;ENSP00000384084:H349Y;ENSP00000385482:H349Y;ENSP00000385193:H349Y;ENSP00000384767:H349Y;ENSP00000384787:H349Y;ENSP00000385784:H349Y;ENSP00000288642:H349Y;ENSP00000444961:H145Y	ENSP00000288642:H349Y	H	-	1	0	DTNB	25559203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.189000	0.65098	2.544000	0.85801	0.650000	0.86243	CAC		0.483	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		3	59	0	0	0	1	0	3	59					A	25705699	G	A	25705699	3	1	14	1	0	0	0	0	1	0	0	0	4789	1348	47	3	882	3	DTNB	2	25705699	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		25705699	217493674	4	264										
DNAJC5G	285126	broad.mit.edu	37	chr2	27500634	27500634	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccccagccattccgcattGcttccccaccctccttttga	4	19	0	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:27500634G>T	ENST00000296097.3	+	4	544	c.126G>T	c.(124-126)ttG>ttT	p.L42F	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	42	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCCGCATTGCTTCCCCACC	0.488																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(124-126)ttG>ttT		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							102	99	100					2																	27500634		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500634G>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"Heat shock proteins / DNAJ (HSP40)"	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.126G>T	2.37:g.27500634G>T	ENSP00000296097:p.Leu42Phe					DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.L42F	p.L42F	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	544	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.126G>T	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318010	0.10845	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.40476	1.03;1.03	3.84	-0.14	0.13456	Heat shock protein DnaJ, N-terminal (3);	1.917340	0.03216	N	0.176883	T	0.23649	0.0572	N	0.08118	0	0.33141	D	0.544361	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.87932	D	0	.	3.65	0.08199	0.0:0.4409:0.2081:0.351	.	42	Q8N7S2	DNJ5G_HUMAN	F	42	ENSP00000296097:L42F;ENSP00000384305:L42F	ENSP00000296097:L42F	L	+	3	2	DNAJC5G	27354138	0.000000	0.05858	0.016000	0.15963	0.000000	0.00434	-0.591000	0.05753	-0.117000	0.11872	-1.121000	0.02013	TTG		0.488	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		26	106	1	0	6.04164e-23	1	6.8366e-23	26	106					T	27500634	G	T	27500634	3	4	14	1	0	0	0	0	1	0	0	0	4652	1310	46	5	132	5	DNAJC5G	2	27500634	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	1794935	27500634	215698739	5	265										
NAGK	55577	broad.mit.edu	37	chr2	71305537	71305538	+	Missense_Mutation	DNP	GC	GC	TT													0	0	1	0	0	0	1	1	0	tgaagctgaggcactcctccGctctgggtggggccagccta					rs559948418		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:71305537_71305538GC>TT	ENST00000244204.6	+	10	996_997	c.934_935GC>TT	c.(934-936)GCt>TTt	p.A312F	NAGK_ENST00000443872.2_Missense_Mutation_p.A164F|NAGK_ENST00000455662.2_Missense_Mutation_p.A358F|NAGK_ENST00000418807.3_Missense_Mutation_p.A261F|NAGK_ENST00000443938.2_Missense_Mutation_p.A308F			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	312					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCACTCCTCCGCTCTGGGTGGG	0.584																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(781-783)Gct>Tct|c.(781-783)gCt>gTt		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305537G>T|g.chr2:71305538C>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	Exception_encountered	2.37:g.71305537_71305538delinsTT	ENSP00000244204:p.Ala312Phe					NAGK_ENST00000244204.5_Missense_Mutation_p.A312S|NAGK_ENST00000455662.2_Missense_Mutation_p.A358S|NAGK_ENST00000244204.5_Missense_Mutation_p.A312V|NAGK_ENST00000455662.2_Missense_Mutation_p.A358V	p.A261S|p.A261V			Q9UJ70	NAGK_HUMAN			9	945|946	+			312					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.781G>T|c.782C>T																																																																																					0.584	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			6|5	28|29	1|0	0	0.00198382|0	1	0.00203105|0	5	28					TT	71305538	GC	TT	71305537	3	4	14	1	0	0	0	0	1	0	0	0	10142	1087	38	5	1110	5	NAGK	2	71305537	Missense_Mutation	DNP	GC	TCGA-QR-A6GU-01A-11D-A35D-08	43804903	71305537	171893836	6	266										
IL18RAP	8807	broad.mit.edu	37	chr2	103040356	103040356	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgatttaccagagccacaGaaatcacatttctgccacag	7	11	2	3			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:103040356G>T	ENST00000264260.2	+	4	745	c.156G>T	c.(154-156)caG>caT	p.Q52H	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	52					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGAGCCACAGAAATCACATT	0.408																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(154-156)caG>caT		interleukin 18 receptor accessory protein							64	63	64					2																	103040356		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040356G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.156G>T	2.37:g.103040356G>T	ENSP00000264260:p.Gln52His					IL18RAP_ENST00000409369.1_Intron	p.Q52H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			4	745	+			52					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.156G>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500836	0.26861	.	.	ENSG00000115607	ENST00000264260	T	0.02498	4.27	4.47	0.714	0.18180	.	1.533070	0.03666	N	0.243328	T	0.05135	0.0137	M	0.63428	1.95	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.43893	-0.9363	10	0.48119	T	0.1	.	6.4255	0.21768	0.4063:0.0:0.5937:0.0	.	52	O95256	I18RA_HUMAN	H	52	ENSP00000264260:Q52H	ENSP00000264260:Q52H	Q	+	3	2	IL18RAP	102406788	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	0.198000	0.17217	0.116000	0.18110	0.563000	0.77884	CAG		0.408	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		7	53	1	0	5.18039e-06	1	5.56892e-06	7	53					T	103040356	G	T	103040356	3	4	14	1	0	0	0	0	1	0	0	0	7648	933	33	5	162	5	IL18RAP	2	103040356	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	31734819	103040356	140159017	7	267										
ZEB2	9839	broad.mit.edu	37	chr2	145157124	145157124	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtctccttgagtcagtagTcaagctctggaggcaagctt	11	10	4	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr2:145157124T>C	ENST00000558170.2	-	8	2814	c.1630A>G	c.(1630-1632)Act>Gct	p.T544A	ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A|ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A|ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	544					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTCAGTAGTCAAGCTCTGG	0.388																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(1630-1632)Act>Gct		zinc finger E-box binding homeobox 2							110	112	112					2																	145157124		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157124T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1630A>G	2.37:g.145157124T>C	ENSP00000454157:p.Thr544Ala					ZEB2_ENST00000303660.4_Missense_Mutation_p.T544A|ZEB2_ENST00000409487.3_Missense_Mutation_p.T544A|ZEB2_ENST00000539609.3_Missense_Mutation_p.T520A	p.T544A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2814	-			544					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1630A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617976	0.46736	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	L	0.39898	1.24	0.58432	D	0.999996	P;P;P;D	0.63046	0.744;0.93;0.868;0.992	P;P;P;D	0.77004	0.669;0.504;0.504;0.989	T	0.82602	-0.0376	10	0.38643	T	0.18	-10.4949	16.0439	0.80704	0.0:0.0:0.0:1.0	.	520;409;543;544	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	A	520;544;544;544	ENSP00000443792:T520A;ENSP00000302501:T544A;ENSP00000386854:T544A;ENSP00000395496:T544A	ENSP00000302501:T544A	T	-	1	0	ZEB2	144873594	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.286000	0.72665	2.180000	0.69256	0.528000	0.53228	ACT		0.388	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		17	85	0	0	0	1	0	17	85					C	145157124	T	C	145157124	3	2	14	1	0	0	0	0	1	0	0	0	17621	1667	58	4	2026	4	ZEB2	2	145157124	Missense_Mutation	SNP	T	TCGA-QR-A6GU-01A-11D-A35D-08	42116768	145157124	98042249	8	268										
GAK	2580	broad.mit.edu	37	chr4	843541	843541	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagatcatcttggcgtgctGctcgtacggctgccccgcag	13	13	2	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr4:843541G>A	ENST00000314167.4	-	28	3966	c.3856C>T	c.(3856-3858)Cag>Tag	p.Q1286*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207*|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1286	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTGGCGTGCTGCTCGTACGGC	0.677																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(3856-3858)Cag>Tag		cyclin G associated kinase							51	49	49					4																	843541		2203	4300	6503	SO:0001587	stop_gained	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:843541G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3856C>T	4.37:g.843541G>A	ENSP00000314499:p.Gln1286*					GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Nonsense_Mutation_p.Q1207*	p.Q1286*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	28	3966	-			1286			J.		Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	c.3856C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570306	0.65765	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163	.	.	.	4.76	4.76	0.60689	.	0.176413	0.41712	D	0.000840	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-31.7985	15.2715	0.73705	0.0:0.0:1.0:0.0	.	.	.	.	X	562;1286;1207	.	ENSP00000314499:Q1286X	Q	-	1	0	GAK	833541	1.000000	0.71417	0.924000	0.36721	0.102000	0.19082	5.967000	0.70403	2.167000	0.68274	0.643000	0.83706	CAG		0.677	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		4	45	0	0	0	1	0	4	45					A	843541	G	A	843541	4	1	14	1	0	0	0	0	0	1	0	0	6195	1328	46	3	83	3	GAK	4	843541	Nonsense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		843541	190310735	9	269										
SLC1A3	6507	broad.mit.edu	37	chr5	36629602	36629602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagaatgagctaccgggaaGtcaagtacttctcctttcct	8	11	2	2			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr5:36629602G>T	ENST00000265113.4	+	3	708	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	78					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTACCGGGAAGTCAAGTACTT	0.398																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(232-234)Gtc>Ttc		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						207	188	195					5																	36629602		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36629602G>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.232G>T	5.37:g.36629602G>T	ENSP00000265113:p.Val78Phe					SLC1A3_ENST00000381918.3_Missense_Mutation_p.V78F	p.V78F	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	708	+	all_lung(31;0.000245)		78					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.232G>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933179	0.73442	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	6.06	5.19	0.71726	.	0.188443	0.46758	D	0.000277	T	0.58680	0.2139	L	0.45137	1.4	0.49389	D	0.999784	P;P	0.42078	0.466;0.77	B;P	0.48921	0.396;0.595	T	0.62120	-0.6921	10	0.72032	D	0.01	-14.9027	11.3529	0.49598	0.1376:0.0:0.8624:0.0	.	78;78	Q4JCQ8;P43003	.;EAA1_HUMAN	F	78	ENSP00000265113:V78F;ENSP00000427203:V78F;ENSP00000424986:V78F;ENSP00000420992:V78F;ENSP00000371343:V78F	ENSP00000265113:V78F	V	+	1	0	SLC1A3	36665359	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	2.662000	0.46766	1.584000	0.49913	0.655000	0.94253	GTC		0.398	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		13	117	1	0	4.3838e-07	1	4.83342e-07	13	117					T	36629602	G	T	36629602	3	4	14	1	0	0	0	0	1	0	0	0	14433	1029	36	5	255	5	SLC1A3	5	36629602	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		36629602	144285658	10	270										
CDK19	23097	broad.mit.edu	37	chr6	110942543	110942543	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtggaggggctgtgggctGctgatgctggttctgctgct	18	8	1	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr6:110942543G>A	ENST00000368911.3	-	12	1320	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257*|CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	381	Gln-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTGTGGGCTGCTGATGCTGG	0.542																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(1141-1143)Cag>Tag		cyclin-dependent kinase 19							98	112	107					6																	110942543		2202	4300	6502	SO:0001587	stop_gained	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110942543G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1141C>T	6.37:g.110942543G>A	ENSP00000357907:p.Gln381*					CDK19_ENST00000323817.3_Nonsense_Mutation_p.Q321*|CDK19_ENST00000413605.2_Nonsense_Mutation_p.Q257*	p.Q381*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			12	1320	-			381			Gln-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Nonsense_Mutation	SNP	ENST00000368911.3	37	c.1141C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	36	5.955256	0.97145	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	.	.	.	5.88	5.88	0.94601	.	0.374831	0.28784	N	0.014144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-11.343	19.8243	0.96610	0.0:0.0:1.0:0.0	.	.	.	.	X	381;321;320;257	.	ENSP00000317665:Q321X	Q	-	1	0	CDK19	111049236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.016000	0.93645	2.782000	0.95742	0.561000	0.74099	CAG		0.542	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		15	205	0	0	0	1	0	15	205					A	110942543	G	A	110942543	4	1	14	1	0	0	0	0	0	1	0	0	3135	1328	46	3	375	3	CDK19	6	110942543	Nonsense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		110942543	60172524	11	271										
FRK	2444	broad.mit.edu	37	chr6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccagaggcaacctgtgccGccatgtctacctgttgagtc	10	13	1	2			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	335	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AACCTGTGCCGCCATGTCTAC	0.418																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1003-1005)gCg>gTg		fyn-related kinase							78	78	78					6																	116265543		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116265543G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"SH2 domain containing"	3955	protein-coding gene	gene with protein product		606573	"PTK5 protein tyrosine kinase 5", "fyn-related kinase"	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1004C>T	6.37:g.116265543G>A	ENSP00000476145:p.Ala335Val					FRK_ENST00000538210.1_Missense_Mutation_p.A193V	p.A335V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	6	1450	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	335			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1004C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422237	0.62622	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.37235	1.21;1.21	5.6	5.6	0.85130	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000031	T	0.56615	0.1997	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61312	-0.7088	10	0.87932	D	0	.	19.5995	0.95554	0.0:0.0:1.0:0.0	.	335	P42685	FRK_HUMAN	V	335;193	ENSP00000357615:A335V;ENSP00000443075:A193V	ENSP00000357615:A335V	A	-	2	0	FRK	116372236	1.000000	0.71417	0.947000	0.38551	0.055000	0.15305	6.530000	0.73816	2.610000	0.88304	0.591000	0.81541	GCG		0.418	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		4	81	0	0	0	1	0	4	81					A	116265543	G	A	116265543	3	1	14	1	0	0	0	0	1	0	0	0	6048	1087	38	1	525	1	FRK	6	116265543	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08	5323000	116265543	54849524	12	272										
SLC26A3	1811	broad.mit.edu	37	chr7	107432375	107432375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatgtcgaccagcagagcAaatgctaaacctgtaaacac	9	10	0	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr7:107432375A>T	ENST00000340010.5	-	4	466	c.282T>A	c.(280-282)ttT>ttA	p.F94L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	94					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCAGCAGAGCAAATGCTAAAC	0.443																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(280-282)ttT>ttA		solute carrier family 26 (anion exchanger), member 3							103	84	91					7																	107432375		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432375A>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.282T>A	7.37:g.107432375A>T	ENSP00000345873:p.Phe94Leu					SLC26A3_ENST00000422236.2_Missense_Mutation_p.F59L	p.F94L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			4	466	-			94						Missense_Mutation	SNP	ENST00000340010.5	37	c.282T>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455986	0.84209	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91521	-2.86;-2.86;-2.86	5.56	4.42	0.53409	.	0.152839	0.64402	D	0.000015	D	0.91385	0.7282	L	0.53617	1.68	0.36935	D	0.892087	D;D	0.63880	0.993;0.971	P;P	0.56648	0.758;0.803	D	0.92456	0.5974	10	0.46703	T	0.11	.	10.9046	0.47073	0.9266:0.0:0.0734:0.0	.	59;94	G5E9U3;P40879	.;S26A3_HUMAN	L	59;94;94	ENSP00000415817:F59L;ENSP00000345873:F94L;ENSP00000395955:F94L	ENSP00000345873:F94L	F	-	3	2	SLC26A3	107219611	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	3.354000	0.52254	2.112000	0.64535	0.383000	0.25322	TTT		0.443	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		7	54	0	0	0	1	0	7	54					T	107432375	A	T	107432375	3	4	14	1	0	0	0	0	1	0	0	0	14518	127	5	5	2084	5	SLC26A3	7	107432375	Missense_Mutation	SNP	A	TCGA-QR-A6GU-01A-11D-A35D-08		107432375	51706288	13	273										
C9orf84	158401	broad.mit.edu	37	chr9	114484733	114484733	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttttcttgttcctttaagAgaaaccttgtttggtcaaaa	6	7	2	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr9:114484733A>G	ENST00000318737.4	-	13	2023	c.1895T>C	c.(1894-1896)cTc>cCc	p.L632P	C9orf84_ENST00000394777.4_Missense_Mutation_p.L593P|C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P|C9orf84_ENST00000394779.3_Missense_Mutation_p.L593P	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	632										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCCTTTAAGAGAAACCTTGT	0.348																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1777-1779)cTc>cCc		chromosome 9 open reading frame 84							97	97	97					9																	114484733		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114484733A>G	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1895T>C	9.37:g.114484733A>G	ENSP00000322108:p.Leu632Pro					C9orf84_ENST00000394777.4_Missense_Mutation_p.L593P|C9orf84_ENST00000374287.3_Missense_Mutation_p.L632P|C9orf84_ENST00000318737.4_Missense_Mutation_p.L632P	p.L593P	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			11	2022	-			632					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1778T>C	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276988	0.80580	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.08634	3.07;3.2;3.09;3.09	5.8	5.8	0.92144	.	0.420814	0.20241	N	0.096285	T	0.16385	0.0394	N	0.24115	0.695	0.58432	D	0.999991	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.61592	0.891;0.891;0.891	T	0.02031	-1.1226	10	0.87932	D	0	-0.659	16.1484	0.81586	1.0:0.0:0.0:0.0	.	593;632;593	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	P	593;593;246;632;632	ENSP00000378259:L593P;ENSP00000378257:L593P;ENSP00000363405:L632P;ENSP00000322108:L632P	ENSP00000322108:L632P	L	-	2	0	C9orf84	113524554	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.837000	0.69381	2.226000	0.72624	0.459000	0.35465	CTC		0.348	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		20	75	0	0	0	1	0	20	75					G	114484733	A	G	114484733	3	3	14	1	0	0	0	0	1	0	0	0	2500	304	11	4	2495	4	C9orf84	9	114484733	Missense_Mutation	SNP	A	TCGA-QR-A6GU-01A-11D-A35D-08		114484733	26728698	14	274										
NAALADL1	10004	broad.mit.edu	37	chr11	64822094	64822094	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcgctccactcctgagggGggcaggtaccaggagttggg	16	12	0	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr11:64822094G>T	ENST00000358658.3	-	5	747	c.720C>A	c.(718-720)ccC>ccA	p.P240P	NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000340252.4_Silent_p.P240P|NAALADL1_ENST00000339885.2_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P|NAALADL1_ENST00000355721.3_Silent_p.P199P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTCCTGAGGGGGGCAGGTACC	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(718-720)ccC>ccA		N-acetylated alpha-linked acidic dipeptidase-like 1							56	56	56					11																	64822094		2201	4297	6498	SO:0001819	synonymous_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64822094G>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.720C>A	11.37:g.64822094G>T			OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1079	NAALADL1_ENST00000355369.2_Silent_p.P240P|NAALADL1_ENST00000339885.2_Silent_p.P240P|NAALADL1_ENST00000355721.3_Silent_p.P199P|NAALADL1_ENST00000340252.4_Silent_p.P240P|NAALADL1_ENST00000356632.3_Silent_p.P240P	p.P240P	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			5	747	-			240					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	c.720C>A	CCDS31604.1																																																																																				0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		3	13	1	0	0.004672	1	0.004672	3	13					T	64822094	G	T	64822094	2	4	14	1	0	0	0	0	0	0	0	1	10129	1219	43	5		5	NAALADL1	11	64822094	Silent	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		64822094	70184422	15	275										
NRXN3	9369	broad.mit.edu	37	chr14	79175617	79175617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ctcgcctggcccggattgcgGacaccaagatgaaaatctat	10	12	1	2			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr14:79175617G>A	ENST00000554719.1	+	4	651	c.160G>A	c.(160-162)Gac>Aac	p.D54N	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCGGATTGCGGACACCAAGAT	0.463																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(160-162)Gac>Aac		neurexin 3							94	93	94					14																	79175617		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175617G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.160G>A	14.37:g.79175617G>A	ENSP00000451648:p.Asp54Asn					NRXN3_ENST00000335750.5_Missense_Mutation_p.D54N|RP11-232C2.2_ENST00000555680.1_RNA	p.D54N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	651	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.160G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503512	0.85176	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.67523	-0.27;-0.27	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	.	.	.	0.80722	D	1	P;P	0.52692	0.955;0.861	B;P	0.46026	0.396;0.501	T	0.68228	-0.5464	8	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	427;54	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	N	427;425;54;54	ENSP00000451648:D54N;ENSP00000338349:D54N	.	D	+	1	0	NRXN3	78245370	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.518000	0.84900	0.563000	0.77884	GAC		0.463	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		5	92	0	0	0	1	0	5	92					A	79175617	G	A	79175617	3	1	14	1	0	0	0	0	1	0	0	0	10667	1174	41	3	166	3	NRXN3	14	79175617	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		79175617	28173923	16	276										
MEF2A	4205	broad.mit.edu	37	chr15	100211551	100211551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaagaaagaaaggccttaaTggttgtgagagccctgatgc	12	6	0	4	rs1135555		TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr15:100211551T>A	ENST00000557785.1	+	5	631	c.282T>A	c.(280-282)aaT>aaA	p.N94K	MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K|MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.N94K	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	94					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			AAGGCCTTAATGGTTGTGAGA	0.353																																						ENST00000338042.6																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(280-282)aaT>aaA		myocyte enhancer factor 2A							166	160	162					15																	100211551		1568	3582	5150	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211551T>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"Myocyte enhancer factors"	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.282T>A	15.37:g.100211551T>A	ENSP00000453441:p.Asn94Lys					MEF2A_ENST00000449277.2_Missense_Mutation_p.N26K|MEF2A_ENST00000558812.1_Missense_Mutation_p.N26K|MEF2A_ENST00000557942.1_Missense_Mutation_p.N94K|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.N94K|MEF2A_ENST00000453228.2_Missense_Mutation_p.N94K	p.N94K			Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	601	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		94					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.282T>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487703	0.44249	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.59772	0.24;0.24;1.25	5.54	5.54	0.83059	.	.	.	.	.	T	0.46521	0.1397	N	0.22421	0.69	0.31911	N	0.614689	B;B;B;B	0.28584	0.016;0.216;0.015;0.015	B;B;B;B	0.30029	0.062;0.11;0.041;0.041	T	0.53078	-0.8489	9	0.30078	T	0.28	.	15.9546	0.79876	0.0:0.0:0.0:1.0	.	26;15;94;94	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	K	94;94;26	ENSP00000404110:N94K;ENSP00000337202:N94K;ENSP00000399460:N26K	ENSP00000337202:N94K	N	+	3	2	MEF2A	98029074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.229000	0.72834	0.533000	0.62120	AAT		0.353	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			32	122	0	0	0	1	0	32	122					A	100211551	T	A	100211551	3	1	14	1	0	0	0	0	1	0	0	0	9455	1461	51	5	292	5	MEF2A	15	100211551	Missense_Mutation	SNP	T	TCGA-QR-A6GU-01A-11D-A35D-08		100211551	2319841	17	277										
CPNE2	221184	broad.mit.edu	37	chr16	57155597	57155597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgcccagctggagttcgaGtgcatcaaccccaagaagca	11	12	1	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr16:57155597G>A	ENST00000535318.2	+	10	1153	c.792G>A	c.(790-792)gaG>gaA	p.E264E	CPNE2_ENST00000290776.8_Silent_p.E264E|CPNE2_ENST00000537605.1_Silent_p.E162E|CPNE2_ENST00000565874.1_Silent_p.E264E			Q96FN4	CPNE2_HUMAN	copine II	264						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TGGAGTTCGAGTGCATCAACC	0.527																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(790-792)gaG>gaA		copine II							143	133	136					16																	57155597		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57155597G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.792G>A	16.37:g.57155597G>A						CPNE2_ENST00000565874.1_Silent_p.E264E|CPNE2_ENST00000290776.8_Silent_p.E264E|CPNE2_ENST00000537605.1_Silent_p.E162E	p.E264E			Q96FN4	CPNE2_HUMAN			10	1153	+		all_neural(199;0.224)	264					Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.792G>A	CCDS10774.1																																																																																				0.527	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		21	125	0	0	0	1	0	21	125					A	57155597	G	A	57155597	2	1	14	1	0	0	0	0	0	0	0	1	3812	1020	36	3		3	CPNE2	16	57155597	Silent	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		57155597	33199156	18	278										
TBX2	6909	broad.mit.edu	37	chr17	59477559	59477559	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagagagccggcgctggcgGccagcgccatggcttaccac	15	14	0	2			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr17:59477559G>C	ENST00000240328.3	+	1	303	c.22G>C	c.(22-24)Gcc>Ccc	p.A8P	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	8					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GGCGCTGGCGGCCAGCGCCAT	0.796																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(22-24)Gcc>Ccc		T-box 2							7	7	7					17																	59477559		1432	3126	4558	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59477559G>C	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.22G>C	17.37:g.59477559G>C	ENSP00000240328:p.Ala8Pro					RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	p.A8P	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			1	303	+			8					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.22G>C	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046913	0.55110	.	.	ENSG00000121068	ENST00000240328	D	0.86769	-2.17	3.2	3.2	0.36748	.	.	.	.	.	T	0.79851	0.4517	L	0.29908	0.895	0.42866	D	0.994125	P	0.36733	0.567	B	0.34346	0.18	T	0.82323	-0.0514	9	0.66056	D	0.02	.	13.5665	0.61822	0.0:0.0:1.0:0.0	.	8	Q13207	TBX2_HUMAN	P	8	ENSP00000240328:A8P	ENSP00000240328:A8P	A	+	1	0	TBX2	56832341	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	5.747000	0.68689	1.632000	0.50472	0.163000	0.16589	GCC		0.796	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		6	29	0	0	0	1	0	6	29					C	59477559	G	C	59477559	3	2	14	1	0	0	0	0	1	0	0	0	15652	1203	42	5	24	5	TBX2	17	59477559	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		59477559	21717651	19	279										
LAMA3	3909	broad.mit.edu	37	chr18	21329485	21329485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtgttactgaatattcccGtattgtacctttggaaaatg	8	6	0	1	rs150204820	byFrequency	TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr18:21329485G>A	ENST00000313654.9	+	4	900	c.659G>A	c.(658-660)cGt>cAt	p.R220H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	220	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R220H(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAATATTCCCGTATTGTACCT	0.393													G|||	3	0.000599042	0	0	5008	,	,		15518	0.003		0	False		,,,				2504	0					ENST00000313654.9																			1	Substitution - Missense(1)	p.R220H(1)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(658-660)cGt>cAt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						82	85	84					18																	21329485		1858	4095	5953	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21329485G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.659G>A	18.37:g.21329485G>A	ENSP00000324532:p.Arg220His					LAMA3_ENST00000399516.3_Missense_Mutation_p.R220H	p.R220H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			4	900	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		220			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.659G>A	CCDS42419.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.685288	0.96784	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75821	-0.97;-0.97	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.87811	0.6271	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.99	D;D;P	0.91635	0.999;0.927;0.901	D	0.88118	0.2830	9	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	220;220;220	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	H	220	ENSP00000324532:R220H;ENSP00000382432:R220H	ENSP00000324532:R220H	R	+	2	0	LAMA3	19583483	0.995000	0.38212	0.937000	0.37676	0.989000	0.77384	7.062000	0.76706	2.776000	0.95493	0.655000	0.94253	CGT		0.393	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	37	0	0	0	1	0	7	37					A	21329485	G	A	21329485	3	1	14	1	0	0	0	0	1	0	0	0	8607	1145	40	1	673	1	LAMA3	18	21329485	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		21329485	56747763	20	280										
PPAN	56342	broad.mit.edu	37	chr19	10220329	10220329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacctgaacaccatcaagcGctgcctcctcatcgactaca	6	16	2	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr19:10220329G>A	ENST00000253107.7	+	6	642	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000556468.1_Missense_Mutation_p.R179H|PPAN_ENST00000393793.1_Missense_Mutation_p.R126H|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.R179H|P2RY11_ENST00000321826.4_5'Flank	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	179	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			ACCATCAAGCGCTGCCTCCTC	0.597																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(535-537)cGc>cAc									232	244	240					19																	10220329		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10220329G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.536G>A	19.37:g.10220329G>A	ENSP00000253107:p.Arg179His					PPAN_ENST00000393793.1_Missense_Mutation_p.R126H|PPAN_ENST00000253107.7_Missense_Mutation_p.R179H|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R179H|PPAN_ENST00000556468.1_Missense_Mutation_p.R179H	p.R179H	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		6	708	+			179			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.536G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099098	0.76983	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	4.94	4.94	0.65067	Brix domain (3);	7739.210000	0.00166	U	0.000001	T	0.73567	0.3603	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.59284	-0.7483	10	0.87932	D	0	-33.0923	16.9125	0.86144	0.0:0.0:1.0:0.0	.	179;179;179	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	H	179;179;179;179;179;126;117	ENSP00000411918:R179H;ENSP00000377385:R179H;ENSP00000253107:R179H;ENSP00000450710:R179H;ENSP00000377382:R126H;ENSP00000410485:R117H	ENSP00000253107:R179H	R	+	2	0	PPAN;PPAN-P2RY11	10081329	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.656000	0.91102	2.287000	0.76781	0.561000	0.74099	CGC		0.597	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		5	328	0	0	0	1	0	5	328					A	10220329	G	A	10220329	3	1	14	1	0	0	0	0	1	0	0	0	12288	1087	38	1	558	1	PPAN	19	10220329	Missense_Mutation	SNP	G	TCGA-QR-A6GU-01A-11D-A35D-08		10220329	48908654	21	281										
ZSWIM4	65249	broad.mit.edu	37	chr19	13910696	13910696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctttacccgcgggctgcacCtgctccagagcggggccgtg	14	16	0	1			TCGA-QR-A6GU-01A-11D-A35D-08	TCGA-QR-A6GU-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab662ec9-f613-4fc7-822b-f365e38d20b8	954a0b13-b7eb-4aa1-be6d-b90151c1c6f1	g.chr19:13910696C>G	ENST00000254323.2	+	2	505	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	106							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGGGCTGCACCTGCTCCAGAG	0.642																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(316-318)Ctg>Gtg		zinc finger, SWIM-type containing 4							43	41	42					19																	13910696		2203	4299	6502	SO:0001583	missense	65249						zinc ion binding	g.chr19:13910696C>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.316C>G	19.37:g.13910696C>G	ENSP00000254323:p.Leu106Val						p.L106V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		2	505	+			106						Missense_Mutation	SNP	ENST00000254323.2	37	c.316C>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119469	0.77323	.	.	ENSG00000132003	ENST00000254323	T	0.55052	0.54	4.31	4.31	0.51392	.	0.731345	0.11015	N	0.608983	T	0.70037	0.3178	M	0.89715	3.055	0.80722	D	1	D	0.64830	0.994	P	0.54889	0.763	T	0.73119	-0.4083	10	0.87932	D	0	-25.0301	8.2093	0.31473	0.0:0.8891:0.0:0.1109	.	106	Q9H7M6	ZSWM4_HUMAN	V	106	ENSP00000254323:L106V	ENSP00000254323:L106V	L	+	1	2	ZSWIM4	13771696	0.989000	0.36119	1.000000	0.80357	0.927000	0.56198	1.468000	0.35332	1.946000	0.56461	0.484000	0.47621	CTG		0.642	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		5	52	0	0	0	1	0	5	52					G	13910696	C	G	13910696	3	3	14	1	0	0	0	0	1	0	0	0	18240	680	24	5	322	5	ZSWIM4	19	13910696	Missense_Mutation	SNP	C	TCGA-QR-A6GU-01A-11D-A35D-08	3690367	13910696	45218287	22	282										
CDC42BPA	8476	broad.mit.edu	37	chr1	227333333	227333333	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgtttcttaaagtcttctaTtccattttgaccaagtcgat	6	8	3	1			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr1:227333333T>C	ENST00000366769.3	-	8	2291	c.1000A>G	c.(1000-1002)Ata>Gta	p.I334V	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGTCTTCTATTCCATTTTGA	0.393																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(1000-1002)Ata>Gta		CDC42 binding protein kinase alpha (DMPK-like)							121	115	117					1																	227333333		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227333333T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1000A>G	1.37:g.227333333T>C	ENSP00000355731:p.Ile334Val					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I334V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I334V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I334V	p.I334V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			8	2291	-		all_cancers(173;0.156)|Prostate(94;0.0792)	334			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.1000A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595539	0.66219	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.93	5.93	0.95920	.	0.086471	0.85682	D	0.000000	T	0.25975	0.0633	N	0.02539	-0.55	0.80722	D	1	P;B;P;B	0.44044	0.825;0.206;0.825;0.043	P;B;P;B	0.45506	0.483;0.057;0.483;0.028	T	0.27971	-1.0058	10	0.23891	T	0.37	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	334;334;334;334	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	V	334	ENSP00000355731:I334V;ENSP00000355729:I334V;ENSP00000335341:I334V;ENSP00000355728:I334V;ENSP00000355726:I334V;ENSP00000443275:I334V;ENSP00000355727:I334V	ENSP00000335341:I334V	I	-	1	0	CDC42BPA	225399956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	ATA		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		58	89	0	0	0	1	0	58	89					C	227333333	T	C	227333333	3	2	15	1	0	0	0	0	1	0	0	0	3072	1493	52	4	4275	4	CDC42BPA	1	227333333	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		227333333	21917288	1	283										
THUMPD2	80745	broad.mit.edu	37	chr2	39997221	39997221	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	attcaaccaacttcctggatCttcatttataagtctttgca	4	10	4	0			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:39997221C>A	ENST00000505747.1	-	3	328	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	101							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTCCTGGATCTTCATTTATA	0.289																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(301-303)Gat>Tat		THUMP domain containing 2							43	44	44					2																	39997221		2189	4279	6468	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39997221C>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"chromosome 2 open reading frame 8"	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.301G>T	2.37:g.39997221C>A	ENSP00000423933:p.Asp101Tyr					THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71Y|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71Y|THUMPD2_ENST00000403537.3_5'UTR	p.D101Y	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			3	328	-		all_hematologic(82;0.248)	101					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.301G>T	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635221	0.47049	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.71	5.71	0.89125	.	0.150159	0.56097	D	0.000024	T	0.77598	0.4154	M	0.69823	2.125	0.40811	D	0.983426	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.972;0.98	T	0.77718	-0.2483	8	.	.	.	.	15.3774	0.74621	0.0:1.0:0.0:0.0	.	71;8;101	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	Y	101;71;71	.	.	D	-	1	0	THUMPD2	39850725	0.997000	0.39634	0.980000	0.43619	0.165000	0.22458	2.415000	0.44635	2.686000	0.91538	0.650000	0.86243	GAT		0.289	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		6	57	1	0	3.59834e-05	1	4.02167e-05	6	57					A	39997221	C	A	39997221	3	1	15	1	0	0	0	0	1	0	0	0	15880	913	32	5	1242	5	THUMPD2	2	39997221	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08		39997221	203202152	2	284										
RANBP2	5903	broad.mit.edu	37	chr2	109384207	109384207	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	acagaaagagtatggttgtgGactgcatgtgattttgcaga	13	4	0	4			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr2:109384207G>A	ENST00000283195.6	+	20	7338	c.7212G>A	c.(7210-7212)tgG>tgA	p.W2404*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2404	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATGGTTGTGGACTGCATGTG	0.368																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(7210-7212)tgG>tgA		RAN binding protein 2							157	181	173					2																	109384207		2137	4113	6250	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109384207G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7212G>A	2.37:g.109384207G>A	ENSP00000283195:p.Trp2404*						p.W2404*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	7338	+			2404			RanBD1 3.		Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.7212G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	47	13.663651	0.99756	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4201	19.698	0.96034	0.0:0.0:1.0:0.0	.	.	.	.	X	1428;2404	.	ENSP00000283195:W2404X	W	+	3	0	RANBP2	108750639	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.813000	0.99286	2.736000	0.93811	0.305000	0.20034	TGG		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		50	831	0	0	0	1	0	50	831					A	109384207	G	A	109384207	4	1	15	1	0	0	0	0	0	1	0	0	13028	1183	41	3	7290	3	RANBP2	2	109384207	Nonsense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08	69386986	109384207	133815166	3	285										
GOLGA4	2803	broad.mit.edu	37	chr3	37366507	37366507	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gacgagaactcaatgatgtcAtatcaatctgggaaaagaaa	9	6	4	3			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr3:37366507A>T	ENST00000361924.2	+	14	3504	c.3130A>T	c.(3130-3132)Ata>Tta	p.I1044L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1066L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1044	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAATGATGTCATATCAATCTG	0.378																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3130-3132)Ata>Tta		golgin A4							65	63	64					3																	37366507		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366507A>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3130A>T	3.37:g.37366507A>T	ENSP00000354486:p.Ile1044Leu					GOLGA4_ENST00000356847.4_Missense_Mutation_p.I1066L|GOLGA4_ENST00000444882.1_Intron	p.I1044L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	3504	+			1044			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3130A>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	4.261	0.047587	0.08243	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22743	1.95;1.94;1.95	5.42	-3.23	0.05109	.	0.191634	0.25717	N	0.028778	T	0.14313	0.0346	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.15930	0.015;0.015;0.004;0.005	B;B;B;B	0.15484	0.013;0.008;0.008;0.003	T	0.23691	-1.0181	10	0.27785	T	0.31	.	13.8517	0.63501	0.5112:0.0:0.4888:0.0	.	1044;1044;1066;1044	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	L	1044;1066;915	ENSP00000354486:I1044L;ENSP00000349305:I1066L;ENSP00000405842:I915L	ENSP00000349305:I1066L	I	+	1	0	GOLGA4	37341511	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	0.017000	0.13399	-0.459000	0.07013	-1.054000	0.02325	ATA		0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		21	15	0	0	0	1	0	21	15					T	37366507	A	T	37366507	3	4	15	1	0	0	0	0	1	0	0	0	6555	217	8	5	3254	5	GOLGA4	3	37366507	Missense_Mutation	SNP	A	TCGA-QR-A6GW-01A-11D-A35D-08		37366507	160655923	4	286										
MLLT3	4300	broad.mit.edu	37	chr9	20414331	20414331	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgctgctgctgctgctgctGctgctgctgctactgctgct	12	14	0	0	rs10964556		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr9:20414331G>A	ENST00000380338.4	-	5	799	c.513C>T	c.(511-513)agC>agT	p.S171S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S168S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	171	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(511-513)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							11	18	16					9																	20414331		1813	3632	5445	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414331G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.513C>T	9.37:g.20414331G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S168S	p.S171S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	799	-			171			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.513C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	71	0	0	0	1	0	5	71					A	20414331	G	A	20414331	2	1	15	1	0	0	0	0	0	0	0	1	9628	1310	46	3		3	MLLT3	9	20414331	Silent	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		20414331	120799100	5	287										
RNF20	56254	broad.mit.edu	37	chr9	104307131	104307133	+	In_Frame_Del	DEL	TCT	TCT	-													0	0	1	0	NA	0	1	1	0	aggctacaggaattgacagaTcttcttcaggaaaagcatcg							TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr9:104307131_104307133delTCT	ENST00000389120.3	+	6	801_803	c.711_713delTCT	c.(709-714)gatctt>gat	p.L239del		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	239					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATTGACAGATCTTCTTCAGGAA	0.458																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(709-714)gat>ga		ring finger protein 20, E3 ubiquitin protein ligase				0,4264		0,0,2132						5.9	1			147	1,8251		0,1,4125	no	coding	RNF20	NM_019592.5		0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12515				SO:0001651	inframe_deletion	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104307131_104307133delTCT	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.711_713delTCT	9.37:g.104307134_104307136delTCT	ENSP00000373772:p.Leu239del						p.DL237del	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	6	801_803	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	237					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	In_Frame_Del	DEL	ENST00000389120.3	37	c.711_713delTCT	CCDS35084.1																																																																																				0.458	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		54	93						54	93	---	---	---	---	-	104307133	TCT	-	104307131	7	5	15	1	0	1	0	1	0	0	0	0	13473	1432	50	0	729	0	RNF20	9	104307131	In_Frame_Del	DEL	TCT	TCGA-QR-A6GW-01A-11D-A35D-08	83892800	104307131	36906300	6	288										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		52	58	0	0	0	1	0	52	58					C	533874	T	C	533874	3	2	15	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		533874	134472642	7	289										
CUX2	23316	broad.mit.edu	37	chr12	111729283	111729283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agactgcagccccccagcttTgaccccagtgggcagccccg	11	18	0	2			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr12:111729283T>C	ENST00000261726.6	+	5	517	c.363T>C	c.(361-363)ttT>ttC	p.F121F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	121					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCCCAGCTTTGACCCCAGTG	0.627																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(361-363)ttT>ttC		cut-like homeobox 2							47	53	51					12																	111729283		1944	4143	6087	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729283T>C	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.363T>C	12.37:g.111729283T>C							p.F121F	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			5	517	+			121					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.363T>C	CCDS41837.1																																																																																				0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	75	0	0	0	1	0	4	75					C	111729283	T	C	111729283	2	2	15	1	0	0	0	0	0	0	0	1	4065	1809	63	4		4	CUX2	12	111729283	Silent	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		111729283	22122612	8	290										
LATS2	26524	broad.mit.edu	37	chr13	21555612	21555612	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atggcgcatgtacctttgcgGaggagcacctcgggtgcgat	15	10	0	0			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr13:21555612G>T	ENST00000382592.4	-	6	3063	c.2658C>A	c.(2656-2658)ctC>ctA	p.L886L	LATS2_ENST00000542899.1_Silent_p.L886L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TACCTTTGCGGAGGAGCACCT	0.607																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2656-2658)ctC>ctA		large tumor suppressor kinase 2							70	57	61					13																	21555612		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21555612G>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2658C>A	13.37:g.21555612G>T						LATS2_ENST00000542899.1_Silent_p.L886L	p.L886L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	6	3063	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	886			Protein kinase.			Silent	SNP	ENST00000382592.4	37	c.2658C>A	CCDS9294.1																																																																																				0.607	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			13	28	1	0	7.07596e-05	1	7.68247e-05	13	28					T	21555612	G	T	21555612	2	4	15	1	0	0	0	0	0	0	0	1	8647	1161	41	5		5	LATS2	13	21555612	Silent	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		21555612	93614266	9	291										
BCL2L2	599	broad.mit.edu	37	chr14	23778132	23778132	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	ctgacgggggccgtggcactGggggccctggtaactgtagg							TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr14:23778132delG	ENST00000250405.5	+	4	769	c.540delG	c.(538-540)ctgfs	p.L180fs	BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	180					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		CCGTGGCACTGGGGGCCCTGG	0.652																																						ENST00000250405.5																			0				central_nervous_system(1)|lung(4)|prostate(1)	6						c.(538-540)ctfs		BCL2-like 2							38	46	44					14																	23778132		2203	4300	6503	SO:0001589	frameshift_variant	599							g.chr14:23778132delG	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	995	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 51"	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.540delG	14.37:g.23778132delG	ENSP00000250405:p.Leu180fs					BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	p.L180fs	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1				GBM - Glioblastoma multiforme(265;0.00654)	4	769	+	all_cancers(95;5.54e-06)							A8K0F4|Q2M3U0|Q5U0H4	Frame_Shift_Del	DEL	ENST00000250405.5	37	c.540delG	CCDS9591.1																																																																																				0.652	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		16	74						16	74	---	---	---	---	-	23778132	G	-	23778132	7	5	15	1	0	1	0	1	0	0	0	0	1374	1335	47	0	546	0	BCL2L2	14	23778132	Frame_Shift_Del	DEL	G	TCGA-QR-A6GW-01A-11D-A35D-08		23778132	83571408	10	292										
TMEM208	29100	broad.mit.edu	37	chr16	67262480	67262480	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acgagcagcgttctctgaggAtggggccctgatggatggtg	17	8	1	2			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr16:67262480A>G	ENST00000304800.9	+	4	351	c.245A>G	c.(244-246)gAt>gGt	p.D82G	TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563426.1_3'UTR|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.D12G	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	82			D -> Y (in dbSNP:rs17851038). {ECO:0000269|PubMed:15489334}.		autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTCTCTGAGGATGGGGCCCTG	0.622																																						ENST00000563953.1																			0				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(34-36)gAt>gGt		transmembrane protein 208							51	54	53					16																	67262480		2154	4255	6409	SO:0001583	missense	29100					integral to membrane		g.chr16:67262480A>G		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.245A>G	16.37:g.67262480A>G	ENSP00000305892:p.Asp82Gly					TMEM208_ENST00000565201.1_Missense_Mutation_p.D82G|TMEM208_ENST00000304800.9_Missense_Mutation_p.D82G|TMEM208_ENST00000563426.1_3'UTR	p.D12G			Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	4	461	+		Ovarian(137;0.0563)	82					Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.35A>G	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007852	0.54361	.	.	ENSG00000168701	ENST00000304800	T	0.31510	1.49	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.50333	1.59	0.80722	D	1	B	0.22346	0.068	B	0.24006	0.05	T	0.05338	-1.0891	10	0.29301	T	0.29	.	14.003	0.64444	1.0:0.0:0.0:0.0	.	82	Q9BTX3	TM208_HUMAN	G	82	ENSP00000305892:D82G	ENSP00000305892:D82G	D	+	2	0	TMEM208	65819981	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.288000	0.89921	1.991000	0.58162	0.459000	0.35465	GAT		0.622	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		15	14	0	0	0	1	0	15	14					G	67262480	A	G	67262480	3	3	15	1	0	0	0	0	1	0	0	0	16130	333	12	4	259	4	TMEM208	16	67262480	Missense_Mutation	SNP	A	TCGA-QR-A6GW-01A-11D-A35D-08		67262480	23092273	11	293										
ADAMTS18	170692	broad.mit.edu	37	chr16	77331217	77331217	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggagaaagcgttgcagatttTgggctcagttactggcttgg	15	6	1	2			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr16:77331217T>G	ENST00000282849.5	-	18	3188	c.2770A>C	c.(2770-2772)Aaa>Caa	p.K924Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	924					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTGCAGATTTTGGGCTCAGTT	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2770-2772)Aaa>Caa		ADAM metallopeptidase with thrombospondin type 1 motif, 18							184	177	179					16																	77331217		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331217T>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2770A>C	16.37:g.77331217T>G	ENSP00000282849:p.Lys924Gln						p.K924Q	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			18	3188	-			924					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2770A>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189467	0.38707	.	.	ENSG00000140873	ENST00000282849	T	0.59906	0.23	6.06	4.91	0.64330	.	0.227432	0.44285	D	0.000468	T	0.40767	0.1130	N	0.17248	0.465	0.35995	D	0.836999	B;B	0.22909	0.077;0.005	B;B	0.21151	0.033;0.004	T	0.45293	-0.9271	10	0.24483	T	0.36	.	14.0093	0.64486	0.0:0.0:0.1338:0.8662	.	924;924	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	Q	924	ENSP00000282849:K924Q	ENSP00000282849:K924Q	K	-	1	0	ADAMTS18	75888718	1.000000	0.71417	0.985000	0.45067	0.897000	0.52465	4.489000	0.60309	2.315000	0.78130	0.533000	0.62120	AAA		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			4	97	0	0	0	1	0	4	97					G	77331217	T	G	77331217	3	3	15	1	0	0	0	0	1	0	0	0	263	1821	63	5	919	5	ADAMTS18	16	77331217	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08	10068737	77331217	13023536	12	294										
ZFP161	7541	broad.mit.edu	37	chr18	5291780	5291780	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atttattttaaggcaatactTacttttggactgaccattgt	6	6	0	1			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr18:5291780T>G	ENST00000357006.4	-	4	765	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	ZBTB14_ENST00000400143.3_Missense_Mutation_p.K143Q	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	143					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										AGGCAATACTTACTTTTGGAC	0.448																																						ENST00000357006.4																			0											c.(427-429)Aag>Cag		zinc finger and BTB domain containing 14							136	136	136					18																	5291780		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291780T>G	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.427A>C	18.37:g.5291780T>G	ENSP00000349503:p.Lys143Gln					ZBTB14_ENST00000400143.3_Missense_Mutation_p.K143Q	p.K143Q	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	765	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.427A>C	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233640	0.58886	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.09911	2.93;2.93	6.07	6.07	0.98685	.	0.138892	0.47852	D	0.000211	T	0.14830	0.0358	N	0.19112	0.55	0.53688	D	0.999975	P	0.51653	0.947	P	0.55965	0.788	T	0.23332	-1.0191	10	0.15066	T	0.55	-27.2317	16.6288	0.85011	0.0:0.0:0.0:1.0	.	143	O43829	ZF161_HUMAN	Q	143	ENSP00000349503:K143Q;ENSP00000383009:K143Q	ENSP00000349503:K143Q	K	-	1	0	ZFP161	5281780	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.586000	0.46119	2.326000	0.78906	0.533000	0.62120	AAG		0.448	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		47	136	0	0	0	1	0	47	136					G	5291780	T	G	5291780	3	3	15	1	0	0	0	0	1	0	0	0	17637	1763	61	5	926	5	ZFP161	18	5291780	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08		5291780	72785468	13	295										
ZNF516	9658	broad.mit.edu	37	chr18	74091638	74091638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ggcccgtgcgtccgctccggGaaaggaaaaccaaattgctt	12	12	0	0			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr18:74091638G>A	ENST00000443185.2	-	4	2749	c.2432C>T	c.(2431-2433)tCc>tTc	p.S811F	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	811					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCCGCTCCGGGAAAGGAAAAC	0.612																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2431-2433)tCc>tTc		zinc finger protein 516							36	43	41					18																	74091638		1984	4153	6137	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091638G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2432C>T	18.37:g.74091638G>A	ENSP00000394757:p.Ser811Phe					ZNF516_ENST00000524431.2_5'UTR	p.S811F	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2749	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	811						Missense_Mutation	SNP	ENST00000443185.2	37	c.2432C>T		.	.	.	.	.	.	.	.	.	.	G	7.357	0.624007	0.14193	.	.	ENSG00000101493	ENST00000443185	T	0.10099	2.91	4.31	2.36	0.29203	.	0.637161	0.15461	N	0.261114	T	0.08846	0.0219	.	.	.	0.09310	N	1	B	0.28971	0.229	B	0.25884	0.064	T	0.24119	-1.0169	9	0.87932	D	0	-8.2587	8.2188	0.31528	0.2011:0.0:0.7989:0.0	.	811	Q92618	ZN516_HUMAN	F	811	ENSP00000394757:S811F	ENSP00000394757:S811F	S	-	2	0	ZNF516	72220626	1.000000	0.71417	0.002000	0.10522	0.260000	0.26232	4.823000	0.62694	0.466000	0.27193	-0.258000	0.10820	TCC		0.612	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		29	30	0	0	0	1	0	29	30					A	74091638	G	A	74091638	3	1	15	1	0	0	0	0	1	0	0	0	17957	1174	41	3	1076	3	ZNF516	18	74091638	Missense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08	68799858	74091638	3985610	14	296										
TUBB4	10382	broad.mit.edu	37	chr19	6495551	6495551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccacctccttcatggacatgCggccccggaacacggcggcc	11	18	1	0			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:6495551C>T	ENST00000264071.2	-	4	1330	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	320					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CATGGACATGCGGCCCCGGAA	0.637																																						ENST00000264071.2																			0											c.(958-960)cGc>cAc		tubulin, beta 4A class IVa							114	97	103					19																	6495551		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495551C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.959G>A	19.37:g.6495551C>T	ENSP00000264071:p.Arg320His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H	p.R320H			P04350	TBB4_HUMAN			4	1330	-			320					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.959G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373060	0.42105	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84298	-1.83;-1.83	3.43	3.43	0.39272	.	0.000000	0.64402	D	0.000001	D	0.82852	0.5127	M	0.64630	1.985	0.52501	D	0.999955	B	0.12630	0.006	B	0.10450	0.005	T	0.82285	-0.0533	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	320	P04350	TBB4A_HUMAN	H	320;320;238	ENSP00000264071:R320H;ENSP00000443590:R320H	ENSP00000264071:R320H	R	-	2	0	TUBB4	6446551	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		5	192	0	0	0	1	0	5	192					T	6495551	C	T	6495551	3	4	15	1	0	0	0	0	1	0	0	0	16755	768	27	1	379	1	TUBB4	19	6495551	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08		6495551	52633432	15	297										
MUC16	94025	broad.mit.edu	37	chr19	9076861	9076861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	agtaggagctgtggttacgtCcaggatgctcacttccgcag	13	10	1	0			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:9076861C>T	ENST00000397910.4	-	3	10788	c.10585G>A	c.(10585-10587)Gac>Aac	p.D3529N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3530	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTTACGTCCAGGATGCTC	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10585-10587)Gac>Aac		mucin 16, cell surface associated							243	232	236					19																	9076861		2130	4222	6352	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076861C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10585G>A	19.37:g.9076861C>T	ENSP00000381008:p.Asp3529Asn						p.D3529N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	10788	-			3530			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10585G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.137	-0.397659	0.04899	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	1.76	-3.51	0.04696	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.41875	-0.9484	8	0.87932	D	0	.	8.1048	0.30879	0.0:0.491:0.0:0.509	.	3529	B5ME49	.	N	3529	ENSP00000381008:D3529N	ENSP00000381008:D3529N	D	-	1	0	MUC16	8937861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.257000	0.08745	-1.643000	0.01519	-1.786000	0.00637	GAC		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		46	173	0	0	0	1	0	46	173					T	9076861	C	T	9076861	3	4	15	1	0	0	0	0	1	0	0	0	9973	855	30	3	33266	3	MUC16	19	9076861	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08	2581310	9076861	50052122	16	298										
ZNF613	79898	broad.mit.edu	37	chr19	52448551	52448551	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcacacaagtcaggtctcaTtaaccaccagagaattcaca	5	13	4	1			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chr19:52448551T>G	ENST00000293471.6	+	6	2094	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S	ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCAGGTCTCATTAACCACCAG	0.423																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1414-1416)aTt>aGt		zinc finger protein 613							79	72	75					19																	52448551		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448551T>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1415T>G	19.37:g.52448551T>G	ENSP00000293471:p.Ile472Ser					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.I436S	p.I472S	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2094	+		all_neural(266;0.117)	472					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1415T>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187703	0.38609	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.06768	3.26;3.26	3.36	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002298	T	0.11623	0.0283	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.72625	0.978	T	0.03981	-1.0987	10	0.59425	D	0.04	.	5.5818	0.17254	0.0:0.2048:0.0:0.7952	.	472	Q6PF04	ZN613_HUMAN	S	472;436;146	ENSP00000293471:I472S;ENSP00000375671:I436S	ENSP00000293471:I472S	I	+	2	0	ZNF613	57140363	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.765000	0.04730	1.543000	0.49345	0.533000	0.62120	ATT		0.423	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		40	53	0	0	0	1	0	40	53					G	52448551	T	G	52448551	3	3	15	1	0	0	0	0	1	0	0	0	18035	1493	52	5	1429	5	ZNF613	19	52448551	Missense_Mutation	SNP	T	TCGA-QR-A6GW-01A-11D-A35D-08	43371690	52448551	6680432	17	299										
FRMPD4	9758	broad.mit.edu	37	chrX	12712508	12712508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtcttttccgaattagcttcGtcccaaaagatccaattgac	6	11	1	2			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:12712508G>A	ENST00000380682.1	+	9	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(868-870)Gtc>Atc		FERM and PDZ domain containing 4							147	113	124					X																	12712508		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12712508G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.868G>A	X.37:g.12712508G>A	ENSP00000370057:p.Val290Ile						p.V290I	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			9	1374	+			290			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.868G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440245	0.43326	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06068	3.35	5.15	3.36	0.38483	Band 4.1 domain (1);FERM domain (1);	0.135275	0.48286	D	0.000188	T	0.05547	0.0146	N	0.19112	0.55	0.28983	N	0.888546	P;B	0.48764	0.915;0.341	P;B	0.45276	0.475;0.06	T	0.18681	-1.0329	10	0.39692	T	0.17	.	9.521	0.39135	0.0764:0.0:0.7811:0.1425	.	282;290	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	290;281;279	ENSP00000370057:V290I	ENSP00000304583:V279I	V	+	1	0	FRMPD4	12622429	1.000000	0.71417	0.921000	0.36526	0.912000	0.54170	3.437000	0.52863	0.486000	0.27676	-0.237000	0.12165	GTC		0.413	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		30	83	0	0	0	1	0	30	83					A	12712508	G	A	12712508	3	1	15	1	0	0	0	0	1	0	0	0	6059	1145	40	1	902	1	FRMPD4	23	12712508	Missense_Mutation	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08		12712508	142558052	18	300										
PHKA2	5256	broad.mit.edu	37	chrX	18915370	18915370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctcctgcgcagccactggcCctgccgctcaccccagccga	9	21	2	0			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:18915370C>T	ENST00000379942.4	-	30	3858	c.3193G>A	c.(3193-3195)Ggc>Agc	p.G1065S	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'Flank|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1065	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCACTGGCCCTGCCGCTCA	0.622																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3193-3195)Ggc>Agc		phosphorylase kinase, alpha 2 (liver)							54	46	49					X																	18915370		2203	4298	6501	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18915370C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3193G>A	X.37:g.18915370C>T	ENSP00000369274:p.Gly1065Ser						p.G1065S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			30	3858	-	Hepatocellular(33;0.183)		1065			Calmodulin-binding (Potential).		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3193G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988475	0.74589	.	.	ENSG00000044446	ENST00000379942	D	0.94330	-3.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96731	0.9539	10	0.46703	T	0.11	-21.1582	18.0547	0.89361	0.0:1.0:0.0:0.0	.	1065	P46019	KPB2_HUMAN	S	1065	ENSP00000369274:G1065S	ENSP00000369274:G1065S	G	-	1	0	PHKA2	18825291	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	7.400000	0.79949	2.199000	0.70637	0.523000	0.50628	GGC		0.622	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	122	0	0	0	1	0	6	122					T	18915370	C	T	18915370	3	4	15	1	0	0	0	0	1	0	0	0	11844	623	22	3	530	3	PHKA2	23	18915370	Missense_Mutation	SNP	C	TCGA-QR-A6GW-01A-11D-A35D-08	6202862	18915370	136355190	19	301										
CACNA1F	778	broad.mit.edu	37	chrX	49071913	49071913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aagaacgcaatgatgatgatGtagacaatgaagaacactga	10	5	0	8			TCGA-QR-A6GW-01A-11D-A35D-08	TCGA-QR-A6GW-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cbc6621-a98f-4724-9162-14b25e317fe5	57bdb1f0-0ec2-4ae9-94c0-1e2e314e6687	g.chrX:49071913G>A	ENST00000376265.2	-	28	3421	c.3360C>T	c.(3358-3360)taC>taT	p.Y1120Y	CACNA1F_ENST00000376251.1_Silent_p.Y1055Y|CACNA1F_ENST00000323022.5_Silent_p.Y1109Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1120	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGATGATGATGTAGACAATGA	0.493																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3358-3360)taC>taT		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						131	96	108					X																	49071913		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071913G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3360C>T	X.37:g.49071913G>A						CACNA1F_ENST00000323022.5_Silent_p.Y1109Y|CACNA1F_ENST00000376251.1_Silent_p.Y1055Y	p.Y1120Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3421	-			1120			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.3360C>T	CCDS35253.1																																																																																				0.493	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		16	22	0	0	0	1	0	16	22					A	49071913	G	A	49071913	2	1	15	1	0	0	0	0	0	0	0	1	2543	1372	48	3		3	CACNA1F	23	49071913	Silent	SNP	G	TCGA-QR-A6GW-01A-11D-A35D-08	30156543	49071913	106198647	20	302										
MTOR	2475	broad.mit.edu	37	chr1	11169377	11169377	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	atctcgaaccctgttaataaTctggatagctttcttattta	5	8	3	0			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:11169377T>A	ENST00000361445.4	-	56	7574	c.7498A>T	c.(7498-7500)Att>Ttt	p.I2500F	MTOR_ENST00000376838.1_Missense_Mutation_p.I705F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2500	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTGTTAATAATCTGGATAGCT	0.408																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(7498-7500)Att>Ttt		mechanistic target of rapamycin (serine/threonine kinase)							177	156	163					1																	11169377		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11169377T>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7498A>T	1.37:g.11169377T>A	ENSP00000354558:p.Ile2500Phe					MTOR_ENST00000376838.1_Missense_Mutation_p.I705F	p.I2500F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7574	-			2500			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7498A>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	34	5.335683	0.95758	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.30182	3.07;2.84;1.54	5.82	5.82	0.92795	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.047538	0.85682	D	0.000000	T	0.58921	0.2156	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	T	0.66650	-0.5870	10	0.87932	D	0	-10.0412	13.9151	0.63893	0.0:0.0:0.0:1.0	.	2500	P42345	MTOR_HUMAN	F	2500;705;156	ENSP00000354558:I2500F;ENSP00000366034:I705F;ENSP00000398745:I156F	ENSP00000354558:I2500F	I	-	1	0	MTOR	11091964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.466000	0.80914	2.223000	0.72356	0.482000	0.46254	ATT		0.408	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		16	52	0	0	0	1	0	16	52					A	11169377	T	A	11169377	3	1	16	1	0	0	0	0	1	0	0	0	9954	1435	50	5	163	5	MTOR	1	11169377	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		11169377	238081244	1	303										
HSPG2	3339	broad.mit.edu	37	chr1	22199255	22199255	+	Splice_Site	DEL	T	T	-													0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	tgaggccttccacctgggccTgggtagacggatggaaggag							TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr1:22199255delT	ENST00000374695.3	-	32	3968		c.e32-2			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CACCTGGGCCTGGGTAGACGG	0.682																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.e32-2		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						28	34	32					1																	22199255		2202	4298	6500	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22199255delT	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3889-2A>-	1.37:g.22199255delT								NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	32	3968	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	DEL	ENST00000374695.3	37		CCDS30625.1																																																																																				0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	2	4						2	4	---	---	---	---	-	22199255	T	-	22199255	8	5	16	1	0	1	0	1	0	0	1	0	7430	1594	55	0	9552	0	HSPG2	1	22199255	Splice_Site	DEL	T	TCGA-QR-A6GX-01A-11D-A35D-08	11029878	22199255	227051366	2	304										
FAM194A	131831	broad.mit.edu	37	chr3	150377880	150377880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	cggatctttattaaactggcCagcagaagaaggtcatctcc	9	10	3	2			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr3:150377880C>T	ENST00000295910.6	-	14	1843	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	FAM194A_ENST00000491361.1_Silent_p.L451L	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTAAACTGGCCAGCAGAAGAA	0.438																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1789-1791)ctG>ctA		family with sequence similarity 194, member A							110	114	113					3																	150377880		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150377880C>T																												ENST00000295910.6:c.1791G>A	3.37:g.150377880C>T						FAM194A_ENST00000491361.1_Silent_p.L451L	p.L597L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			14	1843	-			597						Silent	SNP	ENST00000295910.6	37	c.1791G>A	CCDS3151.2																																																																																				0.438	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			22	66	0	0	0	1	0	22	66					T	150377880	C	T	150377880	2	4	16	1	0	0	0	0	0	0	0	1	5526	581	21	3		3	FAM194A	3	150377880	Silent	SNP	C	TCGA-QR-A6GX-01A-11D-A35D-08		150377880	47644550	3	305										
SMC4	10051	broad.mit.edu	37	chr3	160142806	160142806	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	aaaatttactgcaagcatccAggtatgtgtgtgtgtgtgtg	12	5	0	0			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr3:160142806A>G	ENST00000357388.3	+	16	2928	c.2477A>G	c.(2476-2478)cAg>cGg	p.Q826R	SMC4_ENST00000462787.1_Splice_Site_p.Q826R|SMC4_ENST00000469762.1_Splice_Site_p.Q801R|SMC4_ENST00000344722.5_Splice_Site_p.Q826R|SMC4_ENST00000360111.2_Splice_Site_p.Q826R|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	826					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GCAAGCATCCAGgtatgtgtg	0.363																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e16+1		structural maintenance of chromosomes 4							53	49	51					3																	160142806		2203	4300	6503	SO:0001630	splice_region_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160142806A>G	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2478+1A>G	3.37:g.160142806A>G						RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Splice_Site_p.Q826_splice|SMC4_ENST00000462787.1_Splice_Site_p.Q826_splice|SMC4_ENST00000469762.1_Splice_Site_p.Q801_splice|SMC4_ENST00000344722.5_Splice_Site_p.Q826_splice	p.Q826_splice	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		16	2928	+			826					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Splice_Site	SNP	ENST00000357388.3	37	c.2478_splice	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412648	0.42817	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.18	5.18	0.71444	RecF/RecN/SMC (1);	0.183375	0.49305	D	0.000145	D	0.85327	0.5671	M	0.77616	2.38	0.58432	D	0.999994	P;B;D;B	0.64830	0.529;0.024;0.994;0.063	B;B;D;B	0.76575	0.228;0.035;0.988;0.063	D	0.84567	0.0653	10	0.32370	T	0.25	-13.5001	15.3102	0.74026	1.0:0.0:0.0:0.0	.	826;801;801;826	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	R	826;826;801;826;826;420	ENSP00000349961:Q826R;ENSP00000353225:Q826R;ENSP00000417964:Q801R;ENSP00000420734:Q826R;ENSP00000341382:Q826R	ENSP00000341382:Q826R	Q	+	2	0	SMC4	161625500	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	5.481000	0.66826	2.071000	0.62044	0.482000	0.46254	CAG		0.363	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		Missense_Mutation	3	16	0	0	0	1	0	3	16					G	160142806	A	G	160142806	5	3	16	1	0	0	0	0	0	0	1	0	14785	202	7	4	2535	4	SMC4	3	160142806	Splice_Site	SNP	A	TCGA-QR-A6GX-01A-11D-A35D-08	9764926	160142806	37879624	4	306										
AFAP1L1	134265	broad.mit.edu	37	chr5	148679174	148679174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	gaagatggccgtggcctccaTcctgcagagcctgcagcccc	12	16	0	2			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr5:148679174T>C	ENST00000296721.4	+	2	217	c.119T>C	c.(118-120)aTc>aCc	p.I40T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	40						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCTCCATCCTGCAGAGC	0.602																																						ENST00000296721.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(118-120)aTc>aCc		actin filament associated protein 1-like 1							70	68	69					5																	148679174		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148679174T>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.119T>C	5.37:g.148679174T>C	ENSP00000296721:p.Ile40Thr					AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I40T|AFAP1L1_ENST00000522492.1_3'UTR	p.I40T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	217	+			40					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.119T>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702353	0.68501	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.45276	0.9;0.9	4.78	4.78	0.61160	.	0.177079	0.48767	D	0.000167	T	0.50240	0.1604	M	0.65498	2.005	0.45390	D	0.998371	P;P;P	0.42692	0.561;0.747;0.787	P;B;P	0.46362	0.514;0.399;0.447	T	0.57476	-0.7805	10	0.87932	D	0	-16.1933	14.7627	0.69617	0.0:0.0:0.0:1.0	.	40;40;40	Q8TED9-2;Q8TED9;Q8TED9-3	.;AF1L1_HUMAN;.	T	40	ENSP00000296721:I40T;ENSP00000424427:I40T	ENSP00000296721:I40T	I	+	2	0	AFAP1L1	148659367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.144000	0.77357	2.127000	0.65507	0.533000	0.62120	ATC		0.602	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		6	42	0	0	0	1	0	6	42					C	148679174	T	C	148679174	3	2	16	1	0	0	0	0	1	0	0	0	354	1435	50	4	125	4	AFAP1L1	5	148679174	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		148679174	32236086	5	307										
GMPR	2766	broad.mit.edu	37	chr6	16274725	16274725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	catcaaagtgggagttggacCaggtaagacttgttaggagc	14	6	1	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr6:16274725C>T	ENST00000259727.4	+	5	659	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	182					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GGAGTTGGACCAGGTAAGACT	0.512																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(544-546)cCa>cTa		guanosine monophosphate reductase							132	127	129					6																	16274725		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16274725C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.545C>T	6.37:g.16274725C>T	ENSP00000259727:p.Pro182Leu						p.P182L	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			5	659	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	182					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.545C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369020	0.95900	.	.	ENSG00000137198	ENST00000259727	D	0.82619	-1.63	5.91	5.91	0.95273	Aldolase-type TIM barrel (1);IMP dehydrogenase / GMP reductase, conserved site (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97487	1.0051	10	0.87932	D	0	-1.8425	19.8936	0.96942	0.0:1.0:0.0:0.0	.	182	P36959	GMPR1_HUMAN	L	182	ENSP00000259727:P182L	ENSP00000259727:P182L	P	+	2	0	GMPR	16382704	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.301000	0.78850	2.793000	0.96121	0.655000	0.94253	CCA		0.512	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			7	39	0	0	0	1	0	7	39					T	16274725	C	T	16274725	3	4	16	1	0	0	0	0	1	0	0	0	6496	594	21	3	563	3	GMPR	6	16274725	Missense_Mutation	SNP	C	TCGA-QR-A6GX-01A-11D-A35D-08		16274725	154840342	6	308										
RBM16	22828	broad.mit.edu	37	chr6	155126575	155126575	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	caactacaacagcaaaacctAgaacatctcagacagcagct	5	13	1	2			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr6:155126575A>C	ENST00000367178.3	+	9	1512	c.936A>C	c.(934-936)ctA>ctC	p.L312L	SCAF8_ENST00000417268.1_Silent_p.L312L|SCAF8_ENST00000367186.4_Silent_p.L378L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	312	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGCAAAACCTAGAACATCTCA	0.358																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(934-936)ctA>ctC		SR-related CTD-associated factor 8							80	78	79					6																	155126575		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155126575A>C	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.936A>C	6.37:g.155126575A>C						SCAF8_ENST00000367186.4_Silent_p.L378L|SCAF8_ENST00000417268.1_Silent_p.L312L	p.L312L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			9	1512	+			312			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.936A>C	CCDS5247.1																																																																																				0.358	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		7	69	0	0	0	1	0	7	69					C	155126575	A	C	155126575	2	2	16	1	0	0	0	0	0	0	0	1	13118	407	15	5		5	RBM16	6	155126575	Silent	SNP	A	TCGA-QR-A6GX-01A-11D-A35D-08	138851850	155126575	15988492	7	309										
ABCB5	340273	broad.mit.edu	37	chr7	20698192	20698192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	gagggcagaaacagaggatcGcaattgctcgtgccttagtt	13	8	0	2			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr7:20698192G>A	ENST00000404938.2	+	14	2252	c.1600G>A	c.(1600-1602)Gca>Aca	p.A534T	ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T|ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T|ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	534	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ACAGAGGATCGCAATTGCTCG	0.433																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1600-1602)Gca>Aca		ATP-binding cassette, sub-family B (MDR/TAP), member 5							132	115	121					7																	20698192		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20698192G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1600G>A	7.37:g.20698192G>A	ENSP00000384881:p.Ala534Thr					ABCB5_ENST00000258738.6_Missense_Mutation_p.A89T|ABCB5_ENST00000443026.2_Missense_Mutation_p.A89T|ABCB5_ENST00000406935.1_Missense_Mutation_p.A89T	p.A534T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			14	2252	+			89			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1600G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087543	0.94100	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.94576	-1.94;-3.46;-3.46;-1.94	5.77	5.77	0.91146	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000011	D	0.97405	0.9151	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	D	0.97524	1.0075	10	0.87932	D	0	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	89;534;89;89	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	T	534;89;89;89	ENSP00000384881:A534T;ENSP00000406730:A89T;ENSP00000383899:A89T;ENSP00000258738:A89T	ENSP00000258738:A89T	A	+	1	0	ABCB5	20664717	1.000000	0.71417	0.872000	0.34217	0.592000	0.36648	7.786000	0.85741	2.890000	0.99128	0.650000	0.86243	GCA		0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		10	34	0	0	0	1	0	10	34					A	20698192	G	A	20698192	3	1	16	1	0	0	0	0	1	0	0	0	44	1087	38	1	1650	1	ABCB5	7	20698192	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08		20698192	138440471	8	310										
SAMD9L	219285	broad.mit.edu	37	chr7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	tgaagaagatccacgggcggGcaaaaaccttcttgatgacc	11	10	1	5			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr7:92763379G>A	ENST00000318238.4	-	5	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	636					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1906-1908)Ccc>Tcc		sterile alpha motif domain containing 9-like							85	87	87					7																	92763379		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763379G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1906C>T	7.37:g.92763379G>A	ENSP00000326247:p.Pro636Ser					SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S	p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3122	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		636					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1906C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582453	0.65992	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38887	1.11;1.11;1.11	4.86	3.98	0.46160	.	0.076822	0.50627	N	0.000101	T	0.54902	0.1887	M	0.69823	2.125	0.46701	D	0.999167	D	0.67145	0.996	P	0.54924	0.764	T	0.61598	-0.7030	10	0.87932	D	0	-4.6903	12.8163	0.57667	0.0802:0.0:0.9198:0.0	.	636	Q8IVG5	SAM9L_HUMAN	S	636	ENSP00000326247:P636S;ENSP00000405760:P636S;ENSP00000408796:P636S	ENSP00000326247:P636S	P	-	1	0	SAMD9L	92601315	1.000000	0.71417	0.992000	0.48379	0.755000	0.42902	5.258000	0.65479	1.266000	0.44231	0.467000	0.42956	CCC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		4	121	0	0	0	1	0	4	121					A	92763379	G	A	92763379	3	1	16	1	0	0	0	0	1	0	0	0	13827	1203	42	3	2852	3	SAMD9L	7	92763379	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08	72065187	92763379	66375284	9	311										
LLPH	84298	broad.mit.edu	37	chr12	66517700	66517700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	ctctcgctttgccttcagccTttttctttgcctttggttca	6	13	4	0			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr12:66517700T>C	ENST00000266604.2	-	3	380	c.310A>G	c.(310-312)Agg>Ggg	p.R104G	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.R104G	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	104	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCTTCAGCCTTTTTCTTTGC	0.408																																						ENST00000266604.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(310-312)Agg>Ggg		LLP homolog, long-term synaptic facilitation (Aplysia)							191	167	175					12																	66517700		2203	4300	6503	SO:0001583	missense	84298							g.chr12:66517700T>C	AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"human LAPS18-like protein"		"chromosome 12 open reading frame 31"	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.310A>G	12.37:g.66517700T>C	ENSP00000266604:p.Arg104Gly					LLPH_ENST00000446587.2_Missense_Mutation_p.R104G|TMBIM4_ENST00000539652.1_3'UTR	p.R104G	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN			3	380	-			104			Lys-rich.		Q3B766	Missense_Mutation	SNP	ENST00000266604.2	37	c.310A>G	CCDS8974.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754956	0.49362	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.49	2.01	0.26516	.	0.142496	0.64402	D	0.000008	T	0.48926	0.1527	M	0.68593	2.085	0.28223	N	0.92644	B	0.20887	0.049	B	0.27887	0.084	T	0.43909	-0.9362	8	.	.	.	-13.6114	10.5959	0.45338	0.0:0.0:0.3087:0.6913	.	104	Q9BRT6	LLPH_HUMAN	G	104	.	.	R	-	1	2	LLPH	64803967	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.237000	0.58681	0.306000	0.22856	0.528000	0.53228	AGG		0.408	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401752.1	NM_032338		5	135	0	0	0	1	0	5	135					C	66517700	T	C	66517700	3	2	16	1	0	0	0	0	1	0	0	0	8835	1608	56	4	83	4	LLPH	12	66517700	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		66517700	67334195	10	312										
ZNF319	57567	broad.mit.edu	37	chr16	58032116	58032116	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	gcatggtgctgaggctgcggTggctgtggctgctgcggctg	20	9	0	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr16:58032116T>A	ENST00000299237.2	-	2	676	c.54A>T	c.(52-54)ccA>ccT	p.P18P	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	18	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GAGGCTGCGGTGGCTGTGGCT	0.637																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(52-54)ccA>ccT		zinc finger protein 319							49	53	51					16																	58032116		2198	4298	6496	SO:0001819	synonymous_variant	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58032116T>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"Zinc fingers, C2H2-type"	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.54A>T	16.37:g.58032116T>A							p.P18P	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	676	-			18			Pro-rich.		Q52LH8	Silent	SNP	ENST00000299237.2	37	c.54A>T	CCDS32462.1																																																																																				0.637	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			11	44	0	0	0	1	0	11	44					A	58032116	T	A	58032116	2	1	16	1	0	0	0	0	0	0	0	1	17834	1683	59	5		5	ZNF319	16	58032116	Silent	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		58032116	32322637	11	313										
DPEP1	1800	broad.mit.edu	37	chr16	89702399	89702399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	caacctgaccaccttggccgGcacacacaccaacatcccca	5	20	0	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr16:89702399G>A	ENST00000393092.3	+	3	479	c.188G>A	c.(187-189)gGc>gAc	p.G63D	DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D|DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	63					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACCTTGGCCGGCACACACACC	0.637																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(187-189)gGc>gAc		dipeptidase 1 (renal)	Cilastatin(DB01597)																																			SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702399G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.188G>A	16.37:g.89702399G>A	ENSP00000376807:p.Gly63Asp					DPEP1_ENST00000261615.4_Missense_Mutation_p.G63D|DPEP1_ENST00000421184.1_Missense_Mutation_p.G63D	p.G63D	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	3	479	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	63					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.188G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	5.767	0.325901	0.10900	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.19394	2.15;2.15;2.15	5.25	-10.5	0.00291	.	1.951450	0.02006	N	0.046636	T	0.11965	0.0291	N	0.17872	0.535	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.06844	-1.0804	10	0.21014	T	0.42	0.1765	12.1777	0.54194	0.2598:0.1635:0.5767:0.0	.	63	P16444	DPEP1_HUMAN	D	63	ENSP00000397313:G63D;ENSP00000376807:G63D;ENSP00000261615:G63D	ENSP00000261615:G63D	G	+	2	0	DPEP1	88229900	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.962000	0.01514	-2.473000	0.00528	-2.110000	0.00354	GGC		0.637	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		3	19	0	0	0	1	0	3	19					A	89702399	G	A	89702399	3	1	16	1	0	0	0	0	1	0	0	0	4713	1203	42	3	194	3	DPEP1	16	89702399	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08	31670283	89702399	652354	12	314										
GAS2L2	246176	broad.mit.edu	37	chr17	34072885	34072885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	catgcgtggacccagccaggTccacagtgacggcccttagt	12	14	0	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:34072885T>C	ENST00000254466.6	-	6	1658	c.1631A>G	c.(1630-1632)gAc>gGc	p.D544G	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	544					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGCCAGGTCCACAGTGAC	0.617																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1630-1632)gAc>gGc		growth arrest-specific 2 like 2							48	47	48					17																	34072885		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072885T>C	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1631A>G	17.37:g.34072885T>C	ENSP00000254466:p.Asp544Gly					GAS2L2_ENST00000587565.1_Missense_Mutation_p.D528G	p.D544G	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1658	-		Ovarian(249;0.17)	544					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1631A>G	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809551	0.31961	.	.	ENSG00000132139	ENST00000254466	T	0.19105	2.17	5.19	2.87	0.33458	.	0.604000	0.15371	N	0.265876	T	0.13030	0.0316	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.25641	-1.0126	10	0.32370	T	0.25	-4.5766	6.4032	0.21650	0.0:0.3139:0.0:0.6861	.	544	Q8NHY3	GA2L2_HUMAN	G	544	ENSP00000254466:D544G	ENSP00000254466:D544G	D	-	2	0	GAS2L2	31096998	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	-0.262000	0.08682	0.409000	0.25649	0.533000	0.62120	GAC		0.617	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		3	27	0	0	0	1	0	3	27					C	34072885	T	C	34072885	3	2	16	1	0	0	0	0	1	0	0	0	6247	1667	58	4	1015	4	GAS2L2	17	34072885	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08		34072885	47122325	13	315										
BZRAP1	9256	broad.mit.edu	37	chr17	56386005	56386005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	ggtagggcttggggcctgaaTtggccttcggaggccccctg	17	11	0	1	rs369628618		TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr17:56386005T>C	ENST00000343736.4	-	22	4791	c.4628A>G	c.(4627-4629)aAt>aGt	p.N1543S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1543						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGGCCTGAATTGGCCTTCGG	0.677																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4627-4629)aAt>aGt		benzodiazapine receptor (peripheral) associated protein 1		T	SER/ASN,SER/ASN	1,4405		0,1,2202	29	31	30		4448,4628	-1.5	0.5	17		30	0,8598		0,0,4299	no	missense,missense	BZRAP1	NM_024418.1,NM_004758.2	46,46	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	1483/1798,1543/1858	56386005	1,13003	2203	4299	6502	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386005T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4628A>G	17.37:g.56386005T>C	ENSP00000345824:p.Asn1543Ser					BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S	p.N1543S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	5498	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1543					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4628A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	4.073	0.011482	0.07912	2.27E-4	0.0	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04275	3.66;3.66;3.67	5.26	-1.46	0.08800	.	1.110590	0.06523	N	0.739955	T	0.02304	0.0071	N	0.12746	0.255	0.09310	N	1	B;B;B	0.16166	0.001;0.016;0.008	B;B;B	0.14023	0.001;0.01;0.005	T	0.46992	-0.9151	10	0.08837	T	0.75	.	3.2281	0.06739	0.148:0.4746:0.152:0.2254	.	1543;1483;1543	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1543;1543;1483	ENSP00000347929:N1543S;ENSP00000345824:N1543S;ENSP00000268893:N1483S	ENSP00000268893:N1483S	N	-	2	0	BZRAP1	53741004	0.000000	0.05858	0.534000	0.28014	0.714000	0.41099	-1.092000	0.03366	0.034000	0.15491	0.374000	0.22700	AAT		0.677	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		8	14	0	0	0	1	0	8	14					C	56386005	T	C	56386005	3	2	16	1	0	0	0	0	1	0	0	0	1577	1493	52	4	985	4	BZRAP1	17	56386005	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08	22313120	56386005	24809205	14	316										
MYOM1	8736	broad.mit.edu	37	chr18	3188963	3188963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	ccgtggtctgcttggatgccGtggactgtttagatgttgtg	15	7	1	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr18:3188963G>A	ENST00000356443.4	-	4	887	c.554C>T	c.(553-555)aCg>aTg	p.T185M	MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	185	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTGGATGCCGTGGACTGTTT	0.507																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(553-555)aCg>aTg		myomesin 1							326	301	309					18																	3188963		2013	4186	6199	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188963G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.554C>T	18.37:g.3188963G>A	ENSP00000348821:p.Thr185Met					MYOM1_ENST00000261606.7_Missense_Mutation_p.T185M|MYOM1_ENST00000400569.3_Missense_Mutation_p.T185M	p.T185M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			4	887	-			185			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.554C>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	4.552	0.102493	0.08731	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.52057	0.85;0.86;0.68	3.1	1.26	0.21427	.	.	.	.	.	T	0.24431	0.0592	N	0.08118	0	0.09310	N	1	P;B	0.40660	0.726;0.003	B;B	0.38562	0.276;0.003	T	0.08806	-1.0704	9	0.46703	T	0.11	.	5.3862	0.16220	0.2831:0.0:0.7169:0.0	.	185;185	P52179-2;P52179	.;MYOM1_HUMAN	M	185	ENSP00000348821:T185M;ENSP00000383413:T185M;ENSP00000261606:T185M	ENSP00000261606:T185M	T	-	2	0	MYOM1	3178963	0.003000	0.15002	0.020000	0.16555	0.522000	0.34438	0.006000	0.13152	0.080000	0.16959	-0.592000	0.04112	ACG		0.507	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	73	0	0	0	1	0	4	73					A	3188963	G	A	3188963	3	1	16	1	0	0	0	0	1	0	0	0	10091	1145	40	1	4643	1	MYOM1	18	3188963	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08		3188963	74888285	15	317										
COL5A3	50509	broad.mit.edu	37	chr19	10089840	10089840	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	tctgccttccaggccaggaaGaccttgttcaccaggaggtc	11	13	2	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chr19:10089840G>A	ENST00000264828.3	-	39	2927	c.2842C>T	c.(2842-2844)Ctt>Ttt	p.L948F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	948	Collagen-like 4.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCCAGGAAGACCTTGTTCA	0.567																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2842-2844)Ctt>Ttt		collagen, type V, alpha 3							47	47	47					19																	10089840		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10089840G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2842C>T	19.37:g.10089840G>A	ENSP00000264828:p.Leu948Phe						p.L948F	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		39	2927	-			948			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2842C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	g	12.87	2.067278	0.36470	.	.	ENSG00000080573	ENST00000264828	D	0.93604	-3.25	3.98	3.98	0.46160	.	0.000000	0.56097	U	0.000030	D	0.95108	0.8415	L	0.56199	1.76	0.41958	D	0.990696	D	0.76494	0.999	D	0.91635	0.999	D	0.94737	0.7915	10	0.44086	T	0.13	.	13.58	0.61896	0.0:0.0:1.0:0.0	.	948	P25940	CO5A3_HUMAN	F	948	ENSP00000264828:L948F	ENSP00000264828:L948F	L	-	1	0	COL5A3	9950840	0.997000	0.39634	0.999000	0.59377	0.702000	0.40608	1.508000	0.35769	1.776000	0.52262	0.298000	0.19748	CTT		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		8	36	0	0	0	1	0	8	36					A	10089840	G	A	10089840	3	1	16	1	0	0	0	0	1	0	0	0	3698	942	33	3	2511	3	COL5A3	19	10089840	Missense_Mutation	SNP	G	TCGA-QR-A6GX-01A-11D-A35D-08		10089840	49039143	16	318										
BCOR	54880	broad.mit.edu	37	chrX	39911406	39911406	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	atcactggggtggagccactCtacagaggagcccagcagag	14	11	2	2			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chrX:39911406C>G	ENST00000378444.4	-	15	5452	c.5224G>C	c.(5224-5226)Gag>Cag	p.E1742Q	BCOR_ENST00000342274.4_Missense_Mutation_p.E1708Q|BCOR_ENST00000397354.3_Missense_Mutation_p.E1708Q|BCOR_ENST00000378455.4_Missense_Mutation_p.E1690Q|BCOR_ENST00000378463.1_Missense_Mutation_p.E585Q	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1742	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGAGCCACTCTACAGAGGAG	0.493			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(5122-5124)Gag>Cag		BCL6 corepressor							42	33	36					X																	39911406		2202	4299	6501	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911406C>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5224G>C	X.37:g.39911406C>G	ENSP00000367705:p.Glu1742Gln					BCOR_ENST00000378455.4_Missense_Mutation_p.E1690Q|BCOR_ENST00000397354.3_Missense_Mutation_p.E1708Q|BCOR_ENST00000378444.4_Missense_Mutation_p.E1742Q|BCOR_ENST00000378463.1_Missense_Mutation_p.E585Q	p.E1708Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			15	5484	-			1742					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.5122G>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056059	0.55325	.	.	ENSG00000183337	ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274	T;T;T;T;T	0.51817	0.69;0.81;0.79;0.75;0.79	5.83	5.83	0.93111	.	.	.	.	.	T	0.61048	0.2316	L	0.49126	1.545	0.46376	D	0.999018	D;P;D	0.65815	0.995;0.952;0.985	P;P;P	0.61397	0.888;0.678;0.888	T	0.63278	-0.6673	9	0.87932	D	0	-24.6141	15.4856	0.75564	0.0:0.8556:0.1444:0.0	.	1690;1742;1708	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	Q	585;1690;1708;1742;1708	ENSP00000367724:E585Q;ENSP00000367716:E1690Q;ENSP00000380512:E1708Q;ENSP00000367705:E1742Q;ENSP00000345923:E1708Q	ENSP00000345923:E1708Q	E	-	1	0	BCOR	39796350	1.000000	0.71417	0.964000	0.40570	0.718000	0.41266	5.546000	0.67243	2.464000	0.83262	0.594000	0.82650	GAG		0.493	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	26	0	0	0	1	0	3	26					G	39911406	C	G	39911406	3	3	16	1	0	0	0	0	1	0	0	0	1386	922	32	5	47	5	BCOR	23	39911406	Missense_Mutation	SNP	C	TCGA-QR-A6GX-01A-11D-A35D-08		39911406	115359154	17	319										
ODZ1	10178	broad.mit.edu	37	chrX	123526098	123526098	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	2.18604651162791	8.74418604651163	1.24916943521595	1	1	0	gaatgggtcgcccagtctggTcataaagaattcgaagggtg	14	7	2	1			TCGA-QR-A6GX-01A-11D-A35D-08	TCGA-QR-A6GX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7398e690-eed2-486c-8f3e-728337467264	8514d7ec-0a74-4299-af21-f2d46100b2b5	g.chrX:123526098T>G	ENST00000371130.3	-	27	5534	c.5471A>C	c.(5470-5472)gAc>gCc	p.D1824A	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D1831A	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1824					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCCAGTCTGGTCATAAAGAAT	0.423																																						ENST00000422452.2																			0											c.(5491-5493)gAc>gCc		teneurin transmembrane protein 1							106	96	99					X																	123526098		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123526098T>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5471A>C	X.37:g.123526098T>G	ENSP00000360171:p.Asp1824Ala					TENM1_ENST00000371130.3_Missense_Mutation_p.D1824A|STAG2_ENST00000469481.1_Intron	p.D1831A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					28	5555	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5492A>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094661	0.76870	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90261	-2.64;-2.61	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.80764	0.994;0.963;0.958	D	0.95565	0.8633	10	0.66056	D	0.02	.	14.7475	0.69499	0.0:0.0:0.0:1.0	.	1830;1831;1824	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	A	1824;1831	ENSP00000360171:D1824A;ENSP00000403954:D1831A	ENSP00000360171:D1824A	D	-	2	0	ODZ1	123353779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.289000	0.72696	1.863000	0.54032	0.486000	0.48141	GAC		0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		36	54	0	0	0	1	0	36	54					G	123526098	T	G	123526098	3	3	16	1	0	0	0	0	1	0	0	0	10834	1667	58	5	2726	5	ODZ1	23	123526098	Missense_Mutation	SNP	T	TCGA-QR-A6GX-01A-11D-A35D-08	83614692	123526098	31744462	18	320										
FLG	2312	broad.mit.edu	37	chr1	152279816	152279816	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	ttgttcatcgttacgagtttGtctgcttgcacttctggatc	9	9	3	0	rs555298118		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr1:152279816G>C	ENST00000368799.1	-	3	7581	c.7546C>G	c.(7546-7548)Caa>Gaa	p.Q2516E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2516	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTACGAGTTTGTCTGCTTGCA	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7546-7548)Caa>Gaa		filaggrin							362	339	347					1																	152279816		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279816G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7546C>G	1.37:g.152279816G>C	ENSP00000357789:p.Gln2516Glu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q2516E	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7581	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2516			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7546C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.515	-0.311990	0.05422	.	.	ENSG00000143631	ENST00000368799	T	0.03663	3.85	1.78	1.78	0.24846	.	.	.	.	.	T	0.00666	0.0022	L	0.35793	1.09	0.09310	N	1	P	0.36222	0.544	B	0.26094	0.066	T	0.38478	-0.9659	9	0.02654	T	1	.	6.9979	0.24793	0.0:0.0:1.0:0.0	.	2516	P20930	FILA_HUMAN	E	2516	ENSP00000357789:Q2516E	ENSP00000357789:Q2516E	Q	-	1	0	FLG	150546440	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.103000	0.10940	0.993000	0.38866	0.306000	0.20318	CAA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	468	0	0	0	1	0	5	468					C	152279816	G	C	152279816	3	2	17	1	0	0	0	0	1	0	0	0	5922	1386	48	5	4643	5	FLG	1	152279816	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		152279816	96970805	1	321										
ATP8A1	10396	broad.mit.edu	37	chr4	42629113	42629113	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	gtcttctctgaaacatcatcTgtcttctcataaccttaaaa	3	11	6	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:42629113T>A	ENST00000381668.5	-	2	294	c.63A>T	c.(61-63)acA>acT	p.T21T	ATP8A1_ENST00000264449.10_Silent_p.T21T|ATP8A1_ENST00000510289.1_Silent_p.T21T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	21					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAACATCATCTGTCTTCTCAT	0.368																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(61-63)acA>acT		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						103	99	100					4																	42629113		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42629113T>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.63A>T	4.37:g.42629113T>A						ATP8A1_ENST00000510289.1_Silent_p.T21T|ATP8A1_ENST00000264449.10_Silent_p.T21T	p.T21T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			2	294	-			21					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.63A>T	CCDS3466.1																																																																																				0.368	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		3	33	0	0	0	1	0	3	33					A	42629113	T	A	42629113	2	1	17	1	0	0	0	0	0	0	0	1	1192	1567	55	5		5	ATP8A1	4	42629113	Silent	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08		42629113	148525163	2	322										
FAT1	2195	broad.mit.edu	37	chr4	187630130	187630130	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	gatgctatgtcaccattggcAccctgatcgcagtcatccac	8	14	2	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr4:187630130A>G	ENST00000441802.2	-	2	1061	c.852T>C	c.(850-852)ggT>ggC	p.G284G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	284					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCATTGGCACCCTGATCGC	0.483										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(850-852)ggT>ggC		FAT atypical cadherin 1							279	277	277					4																	187630130		2155	4252	6407	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630130A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.852T>C	4.37:g.187630130A>G		HNSCC(5;0.00058)					p.G284G	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1061	-			284						Silent	SNP	ENST00000441802.2	37	c.852T>C	CCDS47177.1																																																																																				0.483	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	263	0	0	0	1	0	9	263					G	187630130	A	G	187630130	2	3	17	1	0	0	0	0	0	0	0	1	5689	146	6	4		4	FAT1	4	187630130	Silent	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	145001017	187630130	3524146	3	323										
VCAN	1462	broad.mit.edu	37	chr5	82835161	82835163	+	In_Frame_Del	DEL	AAC	AAC	-													0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	agacaagaaattgaaagtgaAacaacatcagaggaacaaat							TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:82835161_82835163delAAC	ENST00000265077.3	+	8	6904_6906	c.6339_6341delAAC	c.(6337-6342)gaaaca>gaa	p.T2115del	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_In_Frame_Del_p.T1128del	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2115	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGAAAGTGAAACAACATCAGAG	0.379																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(6337-6342)gaa>ga		versican																																				SO:0001651	inframe_deletion	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835161_82835163delAAC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6339_6341delAAC	5.37:g.82835164_82835166delAAC	ENSP00000265077:p.Thr2115del					VCAN_ENST00000343200.5_In_Frame_Del_p.ET1126del|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	p.ET2113del	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6904_6906	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2113			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	In_Frame_Del	DEL	ENST00000265077.3	37	c.6339_6341delAAC	CCDS4060.1																																																																																				0.379	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		20	56						20	56	---	---	---	---	-	82835163	AAC	-	82835161	7	5	17	1	0	1	0	1	0	0	0	0	17135	11	1	0	6365	0	VCAN	5	82835161	In_Frame_Del	DEL	AAC	TCGA-QR-A6GY-01A-11D-A35D-08		82835161	98080099	4	324										
SLC26A2	1836	broad.mit.edu	37	chr5	149360408	149360408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	cagtcaaagcaaaccaggaaAtgtatgccattggcttttgt	9	8	1	0	rs374309119		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr5:149360408A>G	ENST00000286298.4	+	3	1520	c.1252A>G	c.(1252-1254)Atg>Gtg	p.M418V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	418					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAACCAGGAAATGTATGCCAT	0.388																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1252-1254)Atg>Gtg		solute carrier family 26 (anion exchanger), member 2		A	VAL/MET	0,4406		0,0,2203	92	86	88		1252	5.7	1	5		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC26A2	NM_000112.3	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	418/740	149360408	1,13005	2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360408A>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1252A>G	5.37:g.149360408A>G	ENSP00000286298:p.Met418Val						p.M418V	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1520	+			418					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1252A>G	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311215	0.60414	0.0	1.16E-4	ENSG00000155850	ENST00000286298	D	0.93189	-3.18	5.71	5.71	0.89125	Sulphate transporter (1);	0.036541	0.85682	D	0.000000	D	0.96592	0.8888	M	0.82323	2.585	0.50039	D	0.99984	D	0.56035	0.974	D	0.64877	0.93	D	0.97152	0.9832	10	0.87932	D	0	.	15.9869	0.80160	1.0:0.0:0.0:0.0	.	418	P50443	S26A2_HUMAN	V	418	ENSP00000286298:M418V	ENSP00000286298:M418V	M	+	1	0	SLC26A2	149340601	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.281000	0.95811	2.171000	0.68590	0.533000	0.62120	ATG		0.388	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		5	83	0	0	0	1	0	5	83					G	149360408	A	G	149360408	3	3	17	1	0	0	0	0	1	0	0	0	14517	101	4	4	1258	4	SLC26A2	5	149360408	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	66525247	149360408	31554852	5	325										
AKD1	221264	broad.mit.edu	37	chr6	109818700	109818700	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tggagtttttctttgttctcAcaaatatatatacgattatg	6	5	2	0			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr6:109818700A>G	ENST00000424296.2	-	38	5359	c.5283T>C	c.(5281-5283)tgT>tgC	p.C1761C	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1761					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CTTTGTTCTCACAAATATATA	0.338																																						ENST00000424296.2																			0											c.(5281-5283)tgT>tgC		adenylate kinase 9							45	49	47					6																	109818700		2201	4300	6501	SO:0001819	synonymous_variant	221264							g.chr6:109818700A>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5283T>C	6.37:g.109818700A>G						RP5-919F19.5_ENST00000423747.1_RNA	p.C1761C	NM_001145128.2	NP_001138600.2					38	5359	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5283T>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.857|5.857	0.342399|0.342399	0.11069|0.11069	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000490722	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|.	.|.	.|.	.|.	T|.	0.45175|.	0.1329|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49799|.	-0.8901|.	4|.	.|.	.|.	.|.	.|.	7.5198|7.5198	0.27622|0.27622	0.7802:0.143:0.0769:0.0|0.7802:0.143:0.0769:0.0	.|.	.|.	.|.	.|.	A|R	599|162	.|.	.|.	V|X	-|-	2|1	0|0	AKD1|AKD1	109925393|109925393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.672000|0.672000	0.39443|0.39443	4.511000|4.511000	0.60462|0.60462	1.885000|1.885000	0.54596|0.54596	0.459000|0.459000	0.35465|0.35465	GTG|TGA		0.338	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		27	45	0	0	0	1	0	27	45					G	109818700	A	G	109818700	2	3	17	1	0	0	0	0	0	0	0	1	460	157	6	4		4	AKD1	6	109818700	Silent	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08		109818700	61296367	6	326										
AQP7	364	broad.mit.edu	37	chr9	33395149	33395149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tctgcagtatttcctggatcTttgctatcacggaccaggag	10	10	3	0			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:33395149T>C	ENST00000539936.1	-	3	309	c.71A>G	c.(70-72)aAg>aGg	p.K24R	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	24					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TTCCTGGATCTTTGCTATCAC	0.557																																						ENST00000539936.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(70-72)aAg>aGg		aquaporin 7							93	63	73					9																	33395149		2203	4300	6503	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395149T>C	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.71A>G	9.37:g.33395149T>C	ENSP00000439534:p.Lys24Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR	p.K24R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	309	-			24					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000539936.1	37	c.71A>G		.	.	.	.	.	.	.	.	.	.	T	0.632	-0.816852	0.02776	.	.	ENSG00000165269	ENST00000379507;ENST00000297988;ENST00000379506;ENST00000539936	D;D;D;D	0.85556	-2.0;-1.99;-1.87;-1.86	3.36	-3.97	0.04094	.	.	.	.	.	T	0.59945	0.2231	N	0.05259	-0.085	0.09310	N	0.999999	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.52749	-0.8534	9	0.07482	T	0.82	-0.3787	4.4545	0.11637	0.0:0.2658:0.3164:0.4178	.	23;24;24	Q5T5M0;B7Z4U2;O14520	.;.;AQP7_HUMAN	R	23;24;23;24	ENSP00000368821:K23R;ENSP00000297988:K24R;ENSP00000368820:K23R;ENSP00000439534:K24R	ENSP00000297988:K24R	K	-	2	0	AQP7	33385149	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.903000	0.04084	-0.803000	0.04415	-1.622000	0.00790	AAG		0.557	AQP7-203	KNOWN	basic	protein_coding	protein_coding		NM_001170		3	35	0	0	0	1	0	3	35					C	33395149	T	C	33395149	3	2	17	1	0	0	0	0	1	0	0	0	831	1609	56	4	981	4	AQP7	9	33395149	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08		33395149	107818282	7	327										
C9orf100	84904	broad.mit.edu	37	chr9	35664419	35664419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	ggcagcaaattggttatagaGctccaagtggcggcagaagc	14	8	0	2			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr9:35664419G>A	ENST00000378387.3	-	3	421	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	102	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TGGTTATAGAGCTCCAAGTGG	0.572																																						ENST00000378387.3																			0											c.(304-306)Ctc>Ttc		Rho guanine nucleotide exchange factor (GEF) 39							99	107	104					9																	35664419		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35664419G>A	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.304C>T	9.37:g.35664419G>A	ENSP00000367638:p.Leu102Phe					ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F|ARHGEF39_ENST00000490970.1_5'UTR	p.L102F	NM_032818.2	NP_116207.2					3	421	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.304C>T	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583859	0.86748	.	.	ENSG00000137135	ENST00000378387;ENST00000378395;ENST00000343259	T;T;T	0.64803	-0.12;-0.12;-0.12	6.02	5.12	0.69794	Dbl homology (DH) domain (5);	0.121237	0.53938	N	0.000056	T	0.76586	0.4008	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.76494	0.999;0.996	D;D	0.75020	0.985;0.96	T	0.78679	-0.2110	10	0.62326	D	0.03	-24.4927	11.1164	0.48262	0.0844:0.0:0.9156:0.0	.	102;102	B4E0T1;Q8N4T4	.;CI100_HUMAN	F	102;66;102	ENSP00000367638:L102F;ENSP00000367648:L66F;ENSP00000344922:L102F	ENSP00000344922:L102F	L	-	1	0	C9orf100	35654419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.231000	0.51294	1.551000	0.49450	0.655000	0.94253	CTC		0.572	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		30	59	0	0	0	1	0	30	59					A	35664419	G	A	35664419	3	1	17	1	0	0	0	0	1	0	0	0	2444	971	34	3	731	3	C9orf100	9	35664419	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08	2269270	35664419	105549012	8	328										
OR51V1	283111	broad.mit.edu	37	chr11	5221718	5221718	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	gtgagggccagcatggacagGaagtaaaacataggctggtg	16	6	0	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:5221718G>A	ENST00000321255.1	-	1	212	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	71					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGACAGGAAGTAAAACA	0.527																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(211-213)ttC>ttT		olfactory receptor, family 51, subfamily V, member 1							109	92	98					11																	5221718		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221718G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"GPCR / Class A : Olfactory receptors"	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.213C>T	11.37:g.5221718G>A							p.F71F	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	212	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	71						Silent	SNP	ENST00000321255.1	37	c.213C>T	CCDS31375.1																																																																																				0.527	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		27	46	0	0	0	1	0	27	46					A	5221718	G	A	5221718	2	1	17	1	0	0	0	0	0	0	0	1	11107	1165	41	3		3	OR51V1	11	5221718	Silent	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		5221718	129784798	9	329										
ANO3	63982	broad.mit.edu	37	chr11	26529704	26529704	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	ctgttcaaagatggcaaaaaGagaattgattacatcttggt	9	5	2	3			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr11:26529704G>C	ENST00000256737.3	+	5	1338	c.486G>C	c.(484-486)aaG>aaC	p.K162N	ANO3_ENST00000531568.1_Missense_Mutation_p.K16N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N|ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	162				K -> R (in Ref. 1; CAC32454). {ECO:0000305}.	calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATGGCAAAAAGAGAATTGATT	0.348																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(484-486)aaG>aaC		anoctamin 3							82	78	79					11																	26529704		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26529704G>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.486G>C	11.37:g.26529704G>C	ENSP00000256737:p.Lys162Asn					ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N|ANO3_ENST00000531568.1_Missense_Mutation_p.K16N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N	p.K162N	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			5	1338	+			162	K -> R (in Ref. 1; CAC32454).				B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.486G>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274703	0.59649	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001;ENST00000531568	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.13;-0.23	5.58	-0.775	0.10988	.	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	M	0.61703	1.905	0.54753	D	0.999983	P;P	0.43885	0.82;0.82	B;P	0.45071	0.392;0.468	T	0.63892	-0.6534	10	0.87932	D	0	.	10.4056	0.44254	0.4062:0.0:0.5938:0.0	.	79;162	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	N	146;146;162;162;79;16	ENSP00000440737:K146N;ENSP00000432576:K146N;ENSP00000256737:K162N;ENSP00000435275:K162N;ENSP00000432394:K16N	ENSP00000256737:K162N	K	+	3	2	ANO3	26486280	1.000000	0.71417	0.840000	0.33206	0.973000	0.67179	1.495000	0.35627	-0.320000	0.08640	-0.224000	0.12420	AAG		0.348	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		19	22	0	0	0	1	0	19	22					C	26529704	G	C	26529704	3	2	17	1	0	0	0	0	1	0	0	0	698	933	33	5	504	5	ANO3	11	26529704	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08	21307986	26529704	108476812	10	330										
AP4E1	23431	broad.mit.edu	37	chr15	51285806	51285806	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	atttgttggtctaggatcagAaagtacaatcaacctggtaa	9	6	3	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr15:51285806A>G	ENST00000261842.5	+	17	2436	c.2330A>G	c.(2329-2331)gAa>gGa	p.E777G	AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	777					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTAGGATCAGAAAGTACAATC	0.378																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2329-2331)gAa>gGa		adaptor-related protein complex 4, epsilon 1 subunit							115	111	112					15																	51285806		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51285806A>G	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2330A>G	15.37:g.51285806A>G	ENSP00000261842:p.Glu777Gly					AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G	p.E777G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	17	2436	+			777					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2330A>G	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536178	0.27475	.	.	ENSG00000081014	ENST00000261842	T	0.19250	2.16	5.28	5.28	0.74379	.	0.366441	0.31082	N	0.008285	T	0.13157	0.0319	N	0.19112	0.55	0.30140	N	0.804032	B	0.26318	0.146	B	0.24974	0.057	T	0.09015	-1.0694	10	0.33940	T	0.23	-11.4487	9.1287	0.36833	0.9148:0.0:0.0852:0.0	.	777	Q9UPM8	AP4E1_HUMAN	G	777	ENSP00000261842:E777G	ENSP00000261842:E777G	E	+	2	0	AP4E1	49073098	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	3.433000	0.52834	1.984000	0.57885	0.455000	0.32223	GAA		0.378	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			32	61	0	0	0	1	0	32	61					G	51285806	A	G	51285806	3	3	17	1	0	0	0	0	1	0	0	0	752	246	9	4	2396	4	AP4E1	15	51285806	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08		51285806	51245586	11	331										
CORO7	79585	broad.mit.edu	37	chr16	4412682	4412682	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	ggtgctggagagtgagggccCcaggctggagggcgtggagg	23	7	0	2			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:4412682C>A	ENST00000251166.4	-	15	1478	c.1333G>T	c.(1333-1335)Ggg>Tgg	p.G445W	CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000423908.2_Missense_Mutation_p.G277W	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	445					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGTGAGGGCCCCAGGCTGGAG	0.667																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(1333-1335)Ggg>Tgg		coronin 7							41	39	40					16																	4412682		2195	4297	6492	SO:0001583	missense	79585							g.chr16:4412682C>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1333G>T	16.37:g.4412682C>A	ENSP00000251166:p.Gly445Trp					CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W|CORO7_ENST00000423908.2_Missense_Mutation_p.G277W	p.G445W	NM_024535.4	NP_078811.3					15	1478	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1333G>T	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435263	0.83885	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.63417	-0.04;-0.04;-0.04	4.95	4.95	0.65309	.	1.658450	0.04002	U	0.296622	T	0.79879	0.4522	L	0.60455	1.87	0.41715	D	0.989479	D;D;D;D;D;D	0.71674	0.997;0.998;0.992;0.99;0.998;0.99	D;D;P;P;D;P	0.71656	0.944;0.971;0.817;0.869;0.974;0.763	T	0.65216	-0.6222	10	0.72032	D	0.01	-27.0525	15.9524	0.79850	0.0:1.0:0.0:0.0	.	360;427;225;225;445;426	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	W	445;360;225;277	ENSP00000251166:G445W;ENSP00000446221:G225W;ENSP00000391530:G277W	ENSP00000251166:G445W	G	-	1	0	CORO7	4352683	0.816000	0.29132	1.000000	0.80357	0.939000	0.58152	0.508000	0.22692	2.275000	0.75901	0.555000	0.69702	GGG		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		3	40	1	0	0.004672	1	0.004672	3	40					A	4412682	C	A	4412682	3	1	17	1	0	0	0	0	1	0	0	0	3759	623	22	5	1500	5	CORO7	16	4412682	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08		4412682	85942071	12	332										
CDH5	1003	broad.mit.edu	37	chr16	66437025	66437025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	ggggacccaggtttaagatgCtggctgagctgtacggctcg	16	9	0	2			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr16:66437025C>T	ENST00000341529.3	+	12	2456	c.2308C>T	c.(2308-2310)Ctg>Ttg	p.L770L	CDH5_ENST00000539168.1_Silent_p.L209L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	770					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GTTTAAGATGCTGGCTGAGCT	0.632																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2308-2310)Ctg>Ttg		cadherin 5, type 2 (vascular endothelium)							50	47	48					16																	66437025		2201	4300	6501	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66437025C>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2308C>T	16.37:g.66437025C>T						CDH5_ENST00000539168.1_Silent_p.L209L	p.L770L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2456	+		Ovarian(137;0.0955)	770					Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.2308C>T	CCDS10804.1																																																																																				0.632	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		3	18	0	0	0	1	0	3	18					T	66437025	C	T	66437025	2	4	17	1	0	0	0	0	0	0	0	1	3113	796	28	3		3	CDH5	16	66437025	Silent	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08	62024343	66437025	23917728	13	333										
PRPF8	10594	broad.mit.edu	37	chr17	1554459	1554459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	catgaagaagccaaggaaacGgtccgacagcagcatctgca	11	11	1	2			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:1554459G>A	ENST00000572621.1	-	41	7061	c.6796C>T	c.(6796-6798)Cgt>Tgt	p.R2266C	RILP_ENST00000301336.6_5'Flank|PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2266					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAAGGAAACGGTCCGACAGC	0.572																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(6796-6798)Cgt>Tgt		pre-mRNA processing factor 8							75	61	66					17																	1554459		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1554459G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6796C>T	17.37:g.1554459G>A	ENSP00000460348:p.Arg2266Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C	p.R2266C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	41	7061	-			2266					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.6796C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072957	0.55646	.	.	ENSG00000174231	ENST00000304992	D	0.94828	-3.53	5.58	4.61	0.57282	PRO, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	M	0.88775	2.98	0.80722	D	1	D	0.64830	0.994	P	0.54026	0.74	D	0.96791	0.9582	10	0.87932	D	0	.	13.5789	0.61890	0.0746:0.0:0.9254:0.0	.	2266	Q6P2Q9	PRP8_HUMAN	C	2266	ENSP00000304350:R2266C	ENSP00000304350:R2266C	R	-	1	0	PRPF8	1501209	1.000000	0.71417	0.976000	0.42696	0.191000	0.23601	7.592000	0.82676	1.366000	0.46076	-0.140000	0.14226	CGT		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			3	29	0	0	0	1	0	3	29					A	1554459	G	A	1554459	3	1	17	1	0	0	0	0	1	0	0	0	12575	1116	39	2	219	2	PRPF8	17	1554459	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		1554459	79640751	14	334										
TP53	7157	broad.mit.edu	37	chr17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tcttgcggagattctcttccTctgtgcgccggtctctccca	9	15	4	1	rs121912667		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr17:7577084T>A	ENST00000269305.4	-	8	1043	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000420246.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E285V	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	ATTCTCTTCCTCTGTGCGCCG	0.562		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"		46	Substitution - Missense(22)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	liver(7)|upper_aerodigestive_tract(5)|lung(5)|soft_tissue(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|biliary_tract(1)|salivary_gland(1)|skin(1)|ovary(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	GRCh37	CM083790	TP53	M	rs121912667	c.(853-855)gAg>gTg	Other conserved DNA damage response genes	tumor protein p53							92	79	83					17																	7577084		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.chr17:7577084T>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.854A>T	17.37:g.7577084T>A	ENSP00000269305:p.Glu285Val	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.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000269305.4_Missense_Mutation_p.E285V	p.E285V	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)	8	986	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.854A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367808	0.82463	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	4.99	4.99	0.66335	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	0.99792	0.9912	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.85130	0.994;0.976;0.994;0.997	D	0.96880	0.9645	10	0.87932	D	0	-38.0538	12.6799	0.56916	0.0:0.0:0.0:1.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	285;285;285;285;285;274;153	ENSP00000352610:E285V;ENSP00000269305:E285V;ENSP00000398846:E285V;ENSP00000391127:E285V;ENSP00000391478:E285V;ENSP00000425104:E153V	ENSP00000269305:E285V	E	-	2	0	TP53	7517809	1.000000	0.71417	0.939000	0.37840	0.649000	0.38597	7.802000	0.85969	2.085000	0.62840	0.379000	0.24179	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	5	0	0	0	1	0	21	5					A	7577084	T	A	7577084	3	1	17	1	0	0	0	0	1	0	0	0	16378	1551	54	5	432	5	TP53	17	7577084	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08	6022625	7577084	73618126	15	335										
TTC39C	125488	broad.mit.edu	37	chr18	21710341	21710341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	cttatatgttcagccgtatgCctgttatgaacttggctgtc	9	9	1	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:21710341C>T	ENST00000317571.3	+	12	1819	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V|TTC39C_ENST00000540918.2_Missense_Mutation_p.A221V	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	528										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CAGCCGTATGCCTGTTATGAA	0.313																																						ENST00000540918.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(661-663)gCc>gTc		tetratricopeptide repeat domain 39C							159	151	154					18																	21710341		2202	4300	6502	SO:0001583	missense	125488						binding	g.chr18:21710341C>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1583C>T	18.37:g.21710341C>T	ENSP00000323645:p.Ala528Val					TTC39C_ENST00000317571.3_Missense_Mutation_p.A528V|TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V	p.A221V			Q8N584	TT39C_HUMAN			7	912	+			528					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.662C>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	36	5.689535	0.96784	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.79033	-1.23;0.67;-1.23	6.08	6.08	0.98989	.	0.095259	0.64402	D	0.000001	D	0.89371	0.6696	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	D	0.89505	0.3767	10	0.87932	D	0	-0.3533	20.6647	0.99678	0.0:1.0:0.0:0.0	.	528	Q8N584	TT39C_HUMAN	V	467;528;221	ENSP00000306598:A467V;ENSP00000323645:A528V;ENSP00000443016:A221V	ENSP00000306598:A467V	A	+	2	0	TTC39C	19964339	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.487000	0.81328	2.890000	0.99128	0.655000	0.94253	GCC		0.313	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		5	139	0	0	0	1	0	5	139					T	21710341	C	T	21710341	3	4	17	1	0	0	0	0	1	0	0	0	16706	739	26	3	1629	3	TTC39C	18	21710341	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08		21710341	56366907	16	336										
NOL4	8715	broad.mit.edu	37	chr18	31432959	31432959	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	gagctgctggaggatcctgaGctagtcgccaattgtctctt	12	10	1	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr18:31432959G>C	ENST00000261592.5	-	11	2061	c.1764C>G	c.(1762-1764)agC>agG	p.S588R	NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	588						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGATCCTGAGCTAGTCGCCA	0.443																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1762-1764)agC>agG		nucleolar protein 4							98	90	93					18																	31432959		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31432959G>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1764C>G	18.37:g.31432959G>C	ENSP00000261592:p.Ser588Arg					NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R	p.S588R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			11	2061	-			588					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1764C>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620516	0.28801	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.75	4.88	0.63580	.	0.057281	0.64402	D	0.000001	T	0.60702	0.2289	L	0.53249	1.67	0.34715	D	0.728123	P;P;P;P;D;B	0.62365	0.573;0.879;0.573;0.573;0.991;0.214	B;P;B;B;P;B	0.56088	0.259;0.448;0.277;0.259;0.791;0.158	T	0.73534	-0.3952	9	0.72032	D	0.01	-8.1417	11.6821	0.51463	0.1415:0.0:0.8585:0.0	.	303;514;588;303;486;369	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	588;372;303;369;514	.	ENSP00000261592:S588R	S	-	3	2	NOL4	29686957	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.501000	0.53325	1.430000	0.47334	0.655000	0.94253	AGC		0.443	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		5	58	0	0	0	1	0	5	58					C	31432959	G	C	31432959	3	2	17	1	0	0	0	0	1	0	0	0	10524	962	34	5	156	5	NOL4	18	31432959	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08	9722618	31432959	46644289	17	337										
VAV1	7409	broad.mit.edu	37	chr19	6833230	6833230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	ggagaatgccaccgccaacgGgcatgacttccagatgttct	11	12	1	3			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:6833230G>A	ENST00000602142.1	+	16	1626	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000304076.2_Missense_Mutation_p.G515E	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	515					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACCGCCAACGGGCATGACTTC	0.468																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1543-1545)gGg>gAg		vav 1 guanine nucleotide exchange factor							57	51	53					19																	6833230		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6833230G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1544G>A	19.37:g.6833230G>A	ENSP00000472929:p.Gly515Glu					VAV1_ENST00000602142.1_Missense_Mutation_p.G515E|VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E	p.G515E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			16	1638	+			515					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1544G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	9.759	1.169520	0.21621	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75704	0.03;-0.96	4.85	4.85	0.62838	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Pleckstrin homology-type (1);	0.407209	0.25598	N	0.029562	T	0.61590	0.2359	L	0.33485	1.01	0.40445	D	0.98008	D;D;B;P	0.55172	0.96;0.97;0.211;0.896	B;B;B;B	0.38842	0.283;0.261;0.059;0.084	T	0.63134	-0.6705	10	0.22706	T	0.39	.	15.4697	0.75432	0.0:0.0:1.0:0.0	.	418;515;460;515	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	E	515;418	ENSP00000302269:G515E;ENSP00000443242:G418E	ENSP00000302269:G515E	G	+	2	0	VAV1	6784230	0.872000	0.30054	0.195000	0.23364	0.521000	0.34408	2.552000	0.45828	2.242000	0.73789	0.650000	0.86243	GGG		0.468	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			18	24	0	0	0	1	0	18	24					A	6833230	G	A	6833230	3	1	17	1	0	0	0	0	1	0	0	0	17128	1232	43	3	1606	3	VAV1	19	6833230	Missense_Mutation	SNP	G	TCGA-QR-A6GY-01A-11D-A35D-08		6833230	52295753	18	338										
ZNF676	163223	broad.mit.edu	37	chr19	22363510	22363510	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	cccgcattcttcacatttgtAgggtttctctccagcatgaa	7	12	3	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:22363510A>G	ENST00000397121.2	-	3	1326	c.1009T>C	c.(1009-1011)Tac>Cac	p.Y337H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCACATTTGTAGGGTTTCTCT	0.413																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1009-1011)Tac>Cac		zinc finger protein 676							71	77	75					19																	22363510		2170	4281	6451	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363510A>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1009T>C	19.37:g.22363510A>G	ENSP00000380310:p.Tyr337His						p.Y337H	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1326	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	337					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1009T>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.483984	0.26598	.	.	ENSG00000196109	ENST00000397121	T	0.21734	1.99	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26448	0.0646	N	0.17723	0.515	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.12426	-1.0548	9	0.66056	D	0.02	.	6.592	0.22651	1.0:0.0:0.0:0.0	.	337	Q8N7Q3	ZN676_HUMAN	H	337	ENSP00000380310:Y337H	ENSP00000380310:Y337H	Y	-	1	0	ZNF676	22155350	0.017000	0.18338	0.026000	0.17262	0.026000	0.11368	2.739000	0.47409	0.166000	0.19597	0.164000	0.16699	TAC		0.413	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		14	142	0	0	0	1	0	14	142					G	22363510	A	G	22363510	3	3	17	1	0	0	0	0	1	0	0	0	18080	420	15	4	761	4	ZNF676	19	22363510	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	15530280	22363510	36765473	19	339										
CYP2B6	1555	broad.mit.edu	37	chr19	41516036	41516036	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	atgctcaaataccctcatgtTgcaggtgggccagggacagc	12	11	2	0			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr19:41516036T>C	ENST00000324071.4	+	6	967	c.960T>C	c.(958-960)gtT>gtC	p.V320V	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	320					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACCCTCATGTTGCAGGTGGGC	0.572																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(958-960)gtT>gtC		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						77	61	66					19																	41516036		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41516036T>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.960T>C	19.37:g.41516036T>C						CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	p.V320V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	967	+			320					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.960T>C	CCDS12570.1																																																																																				0.572	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		8	52	0	0	0	1	0	8	52					C	41516036	T	C	41516036	2	2	17	1	0	0	0	0	0	0	0	1	4164	1799	63	4		4	CYP2B6	19	41516036	Silent	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08	19152526	41516036	17612947	20	340										
SLC5A1	6523	broad.mit.edu	37	chr22	32480635	32480635	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tccttaccttgtggtactggTgcacagatcaggtacccaag	10	11	1	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chr22:32480635T>A	ENST00000266088.4	+	8	1124	c.874T>A	c.(874-876)Tgc>Agc	p.C292S	SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	292					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GTGGTACTGGTGCACAGATCA	0.567																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(874-876)Tgc>Agc		solute carrier family 5 (sodium/glucose cotransporter), member 1							76	74	75					22																	32480635		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32480635T>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.874T>A	22.37:g.32480635T>A	ENSP00000266088:p.Cys292Ser					SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S	p.C292S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			8	1124	+			292					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.874T>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297952	0.81025	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.90069	-2.26;-2.61	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.89534	3.04	0.80722	D	1	D	0.55605	0.972	P	0.60415	0.874	D	0.95480	0.8559	10	0.87932	D	0	.	14.0254	0.64582	0.0:0.0:0.0:1.0	.	292	P13866	SC5A1_HUMAN	S	292;165	ENSP00000266088:C292S;ENSP00000444898:C165S	ENSP00000266088:C292S	C	+	1	0	SLC5A1	30810635	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.814000	0.86154	1.968000	0.57251	0.402000	0.26972	TGC		0.567	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		3	39	0	0	0	1	0	3	39					A	32480635	T	A	32480635	3	1	17	1	0	0	0	0	1	0	0	0	14661	1696	59	5	904	5	SLC5A1	22	32480635	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08		32480635	18823931	21	341										
FAM47A	158724	broad.mit.edu	37	chrX	34149314	34149314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tgggaggcgctaggcggagaCgggacactccagtctcggaa	17	10	1	1	rs374052739		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647																																						ENST00000346193.3																			1	Substitution - Missense(1)	p.R361H(1)	urinary_tract(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1081-1083)cGt>cAt		family with sequence similarity 47, member A		T	HIS/ARG	2,3823		0,2,0,1625,571	29	31	30		1082	0.2	0	X		30	1,6723		0,0,1,2427,1869	no	missense	FAM47A	NM_203408.3	29	0,2,1,4052,2440	TT,TC,T,CC,C		0.0149,0.0523,0.0284	benign	361/792	34149314	3,10546	2198	4297	6495	SO:0001583	missense	158724							g.chrX:34149314C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1082G>A	X.37:g.34149314C>T	ENSP00000345029:p.Arg361His						p.R361H	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1133	-			361					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1082G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.829422	0.00584	5.23E-4	1.49E-4	ENSG00000185448	ENST00000346193	T	0.09538	2.97	0.226	0.226	0.15353	.	.	.	.	.	T	0.02083	0.0065	N	0.00230	-1.795	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	8	0.38643	T	0.18	.	.	.	.	.	361	Q5JRC9	FA47A_HUMAN	H	361	ENSP00000345029:R361H	ENSP00000345029:R361H	R	-	2	0	FAM47A	34059235	0.024000	0.19004	0.006000	0.13384	0.006000	0.05464	-1.385000	0.02540	-0.914000	0.03827	-0.947000	0.02670	CGT		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		4	69	0	0	0	1	0	4	69					T	34149314	C	T	34149314	3	4	17	1	0	0	0	0	1	0	0	0	5569	536	19	1	1297	1	FAM47A	23	34149314	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08		34149314	121121246	22	342										
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	159	0	0	0	1	0	4	159					G	37028425	A	G	37028425	3	3	17	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-QR-A6GY-01A-11D-A35D-08	2879111	37028425	118242135	23	343										
LPAR4	2846	broad.mit.edu	37	chrX	78010713	78010713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	cctctgcaagatctctggaaCtgcattccttaccaacatct	5	14	3	1			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:78010713C>T	ENST00000435339.3	+	2	733	c.347C>T	c.(346-348)aCt>aTt	p.T116I		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATCTCTGGAACTGCATTCCTT	0.423																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(346-348)aCt>aTt		lysophosphatidic acid receptor 4							185	149	161					X																	78010713		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010713C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.347C>T	X.37:g.78010713C>T	ENSP00000408205:p.Thr116Ile					LPAR4_ENST00000373301.2_Missense_Mutation_p.T116I	p.T116I	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	752	+			116					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.347C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450361	0.43531	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.36878	1.23;1.23	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.139718	0.47852	D	0.000201	T	0.39835	0.1093	L	0.47716	1.5	0.43347	D	0.995406	P	0.44281	0.831	P	0.48425	0.577	T	0.12142	-1.0559	10	0.25106	T	0.35	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	116	Q99677	LPAR4_HUMAN	I	116	ENSP00000408205:T116I;ENSP00000362398:T116I	ENSP00000362398:T116I	T	+	2	0	LPAR4	77897369	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.355000	0.66046	1.943000	0.56356	0.422000	0.28245	ACT		0.423	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		33	113	0	0	0	1	0	33	113					T	78010713	C	T	78010713	3	4	17	1	0	0	0	0	1	0	0	0	8907	565	20	3	349	3	LPAR4	23	78010713	Missense_Mutation	SNP	C	TCGA-QR-A6GY-01A-11D-A35D-08	40982288	78010713	77259847	24	344										
ENOX2	10495	broad.mit.edu	37	chrX	129803980	129803980	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tgctgcattcatgatctgaaTagtggaccactgggggtgga	14	7	2	2			TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:129803980T>G	ENST00000370927.1	-	5	761	c.740A>C	c.(739-741)tAt>tCt	p.Y247S	ENOX2_ENST00000338144.3_Missense_Mutation_p.Y247S|ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	247					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATGATCTGAATAGTGGACCAC	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(739-741)tAt>tCt		ecto-NOX disulfide-thiol exchanger 2							175	139	151					X																	129803980		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129803980T>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.740A>C	X.37:g.129803980T>G	ENSP00000359965:p.Tyr247Ser					ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370927.1_Missense_Mutation_p.Y247S|ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S	p.Y247S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			8	1157	-			247					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.740A>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051679	0.75960	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	L	0.46741	1.465	0.58432	D	0.999997	P;P	0.45212	0.853;0.853	B;B	0.42112	0.376;0.376	T	0.43861	-0.9365	8	.	.	.	-12.7953	12.0185	0.53329	0.0:0.0:0.0:1.0	.	247;275	Q16206;A4QPE1	ENOX2_HUMAN;.	S	218;218;247;218;275;247;218	.	.	Y	-	2	0	ENOX2	129631661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.622000	0.67750	1.968000	0.57251	0.486000	0.48141	TAT		0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		37	60	0	0	0	1	0	37	60					G	129803980	T	G	129803980	3	3	17	1	0	0	0	0	1	0	0	0	5127	1406	49	5	1128	5	ENOX2	23	129803980	Missense_Mutation	SNP	T	TCGA-QR-A6GY-01A-11D-A35D-08	51793267	129803980	25466580	25	345										
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													0.0384615384615385	1	1	0.633802816901408	2.32394366197183	0	1	1	0	tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-QR-A6GY-01A-11D-A35D-08	TCGA-QR-A6GY-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86338271-40b0-4a06-82c5-1ed79b637423	a43fd969-ffd2-4085-9a2f-81bb5b805c09	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	219						7	219	---	---	---	---	-	149984526	GTG	-	149984524	7	5	17	1	0	1	0	1	0	0	0	0	3051	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-QR-A6GY-01A-11D-A35D-08	20180544	149984524	5286036	26	346										
EPHB2	2048	broad.mit.edu	37	chr1	23235625	23235625	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtcatgtgggaggtgatgtcCtatggggagcggccctactg	17	8	1	1			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr1:23235625C>T	ENST00000400191.3	+	13	2481	c.2463C>T	c.(2461-2463)tcC>tcT	p.S821S	EPHB2_ENST00000374632.3_Silent_p.S822S|EPHB2_ENST00000374627.1_Silent_p.S816S|EPHB2_ENST00000374630.3_Silent_p.S821S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGGTGATGTCCTATGGGGAGC	0.597																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2461-2463)tcC>tcT		EPH receptor B2							131	116	121					1																	23235625		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23235625C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2463C>T	1.37:g.23235625C>T						EPHB2_ENST00000374630.3_Silent_p.S821S|EPHB2_ENST00000374627.1_Silent_p.S816S|EPHB2_ENST00000374632.3_Silent_p.S822S	p.S821S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	13	2481	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	821			Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2463C>T																																																																																					0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		13	37	0	0	0	1	0	13	37					T	23235625	C	T	23235625	2	4	18	1	0	0	0	0	0	0	0	1	5175	668	24	3		3	EPHB2	1	23235625	Silent	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		23235625	226014996	1	347										
GULP1	51454	broad.mit.edu	37	chr2	189342446	189342446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	catcatgaaccgtgcttttaGcaggaagaaaggtaagtgtg	12	6	1	2			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr2:189342446G>A	ENST00000409580.1	+	4	731	c.17G>A	c.(16-18)aGc>aAc	p.S6N	GULP1_ENST00000410051.1_Missense_Mutation_p.S6N|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_Missense_Mutation_p.S6N|GULP1_ENST00000409843.1_Missense_Mutation_p.S6N|GULP1_ENST00000409805.1_Missense_Mutation_p.S6N|GULP1_ENST00000409637.3_Missense_Mutation_p.S6N|GULP1_ENST00000409609.1_Missense_Mutation_p.S6N|GULP1_ENST00000359135.3_Missense_Mutation_p.S6N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	6					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CGTGCTTTTAGCAGGAAGAAA	0.348																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(16-18)aGc>aAc		GULP, engulfment adaptor PTB domain containing 1							165	160	162					2																	189342446		2203	4299	6502	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189342446G>A	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.17G>A	2.37:g.189342446G>A	ENSP00000386289:p.Ser6Asn					GULP1_ENST00000409637.3_Missense_Mutation_p.S6N|GULP1_ENST00000410051.1_Missense_Mutation_p.S6N|GULP1_ENST00000409843.1_Missense_Mutation_p.S6N|GULP1_ENST00000409830.1_Missense_Mutation_p.S6N|GULP1_ENST00000409609.1_Missense_Mutation_p.S6N|GULP1_ENST00000359135.3_Missense_Mutation_p.S6N|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409805.1_Missense_Mutation_p.S6N	p.S6N			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		4	731	+			6					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.17G>A	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.030001	0.35797	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T;T	0.42900	0.96;0.97;2.56;2.56;0.97;0.97;2.56;0.97	4.6	3.7	0.42460	.	0.236286	0.41001	D	0.000963	T	0.12347	0.0300	N	0.00707	-1.245	0.27771	N	0.943481	B;B;B;B	0.09022	0.0;0.0;0.0;0.002	B;B;B;B	0.11329	0.004;0.0;0.001;0.006	T	0.18524	-1.0334	10	0.18276	T	0.48	-0.0176	7.9345	0.29923	0.1131:0.0:0.8869:0.0	.	6;6;6;6	E9PB86;Q9UBP9;B8ZZ72;Q9UBP9-2	.;GULP1_HUMAN;.;.	N	6	ENSP00000387144:S6N;ENSP00000386732:S6N;ENSP00000387013:S6N;ENSP00000386809:S6N;ENSP00000352047:S6N;ENSP00000386289:S6N;ENSP00000386402:S6N;ENSP00000386867:S6N	ENSP00000352047:S6N	S	+	2	0	GULP1	189050691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.650000	0.37292	2.257000	0.74773	0.655000	0.94253	AGC		0.348	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		4	74	0	0	0	1	0	4	74					A	189342446	G	A	189342446	3	1	18	1	0	0	0	0	1	0	0	0	6901	971	34	3	19	3	GULP1	2	189342446	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		189342446	53856927	2	348										
AQP12A	375318	broad.mit.edu	37	chr2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctcttcctggcgcacgggGtcaccttggacggggcctcg	15	14	2	0	rs199880904		TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr2:241631584G>T	ENST00000337801.4	+	2	286	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	AQP12A_ENST00000429564.1_Missense_Mutation_p.V85F|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(253-255)Gtc>Ttc		aquaporin 12A							30	45	40					2																	241631584		2151	4265	6416	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631584G>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.217G>T	2.37:g.241631584G>T	ENSP00000337144:p.Val73Phe					AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F	p.V85F			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	316	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	73						Missense_Mutation	SNP	ENST00000337801.4	37	c.253G>T		.	.	.	.	.	.	.	.	.	.	.	1.073	-0.669235	0.03403	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.11277	2.79;2.79	2.58	2.58	0.30949	Aquaporin-like (2);	0.350897	0.29198	N	0.012848	T	0.03434	0.0099	N	0.02916	-0.46	0.09310	N	0.999998	B	0.11235	0.004	B	0.12837	0.008	T	0.45600	-0.9250	10	0.09843	T	0.71	.	6.7793	0.23636	0.0:0.0:0.7211:0.2789	.	73	Q8IXF9	AQ12A_HUMAN	F	73;85;58	ENSP00000337144:V73F;ENSP00000405899:V85F	ENSP00000337144:V73F	V	+	1	0	AQP12A	241280257	0.003000	0.15002	0.643000	0.29450	0.067000	0.16453	1.019000	0.30014	1.474000	0.48178	0.186000	0.17326	GTC		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		4	66	1	0	0.00307968	1	0.00307968	4	66					T	241631584	G	T	241631584	3	4	18	1	0	0	0	0	1	0	0	0	824	1261	44	5	223	5	AQP12A	2	241631584	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08	52289138	241631584	1567789	3	349										
SLC33A1	9197	broad.mit.edu	37	chr3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgaagttcttaacgtagaccGcatcaaccaacggggcccag	10	13	2	1			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr3:155571395G>A	ENST00000392845.3	-	1	772	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	131					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438																																						ENST00000392845.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(391-393)gCg>gTg		solute carrier family 33 (acetyl-CoA transporter), member 1							62	67	65					3																	155571395		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571395G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"Solute carriers"	95	protein-coding gene	gene with protein product		603690	"acetyl-Coenzyme A transporter", "spastic paraplegia 42 (autosomal dominant)"	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.392C>T	3.37:g.155571395G>A	ENSP00000376587:p.Ala131Val					SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V	p.A131V	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	772	-			131					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.392C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283162	0.80803	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80566	-1.39;-1.39	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);	0.111009	0.64402	D	0.000006	T	0.78966	0.4367	L	0.55213	1.73	0.53688	D	0.999976	P	0.38020	0.615	B	0.36186	0.219	T	0.79636	-0.1721	10	0.49607	T	0.09	-12.5777	19.6435	0.95767	0.0:0.0:1.0:0.0	.	131	O00400	ACATN_HUMAN	V	131	ENSP00000376587:A131V;ENSP00000352456:A131V	ENSP00000352456:A131V	A	-	2	0	SLC33A1	157054089	1.000000	0.71417	0.351000	0.25721	0.847000	0.48162	9.529000	0.98049	2.712000	0.92718	0.650000	0.86243	GCG		0.438	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		3	36	0	0	0	1	0	3	36					A	155571395	G	A	155571395	3	1	18	1	0	0	0	0	1	0	0	0	14566	1087	38	1	1281	1	SLC33A1	3	155571395	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		155571395	42451035	4	350										
THEMIS	387357	broad.mit.edu	37	chr6	128134119	128134119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgaggggtgtttcggagggCgaggtgggggatgtgaggct	23	4	0	2			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr6:128134119C>T	ENST00000368248.2	-	4	1815	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	THEMIS_ENST00000543064.1_Missense_Mutation_p.R556H|THEMIS_ENST00000368250.1_Missense_Mutation_p.R477H|THEMIS_ENST00000537166.1_Missense_Mutation_p.R521H	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	556					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTTCGGAGGGCGAGGTGGGGG	0.493																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1429-1431)cGc>cAc		thymocyte selection associated							111	114	113					6																	128134119		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134119C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1667G>A	6.37:g.128134119C>T	ENSP00000357231:p.Arg556His					THEMIS_ENST00000543064.1_Missense_Mutation_p.R556H|THEMIS_ENST00000537166.1_Missense_Mutation_p.R521H|THEMIS_ENST00000368248.2_Missense_Mutation_p.R556H	p.R477H			Q8N1K5	THMS1_HUMAN			5	1928	-			556			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1430G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294707	0.60086	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.32988	1.43;1.58;1.48;1.44	5.83	2.91	0.33838	.	0.258158	0.36482	N	0.002576	T	0.38904	0.1058	M	0.65498	2.005	0.36638	D	0.876665	D;D	0.89917	1.0;0.999	D;P	0.63597	0.916;0.763	T	0.46261	-0.9204	10	0.72032	D	0.01	-0.4145	14.6116	0.68519	0.3819:0.6181:0.0:0.0	.	556;556	F5H1J9;Q8N1K5	.;THMS1_HUMAN	H	477;556;556;521	ENSP00000357233:R477H;ENSP00000439594:R556H;ENSP00000357231:R556H;ENSP00000439863:R521H	ENSP00000357231:R556H	R	-	2	0	THEMIS	128175812	0.985000	0.35326	0.907000	0.35723	0.898000	0.52572	2.713000	0.47194	0.293000	0.22520	0.563000	0.77884	CGC		0.493	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		4	106	0	0	0	1	0	4	106					T	128134119	C	T	128134119	3	4	18	1	0	0	0	0	1	0	0	0	15857	768	27	1	391	1	THEMIS	6	128134119	Missense_Mutation	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		128134119	42980948	5	351										
WNK2	65268	broad.mit.edu	37	chr9	96002081	96002081	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	agccacgccttcttcgcagaGgacacaggcgtgagggtgga							TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr9:96002081delG	ENST00000297954.4	+	6	1365	c.1365delG	c.(1363-1365)gagfs	p.E455fs	WNK2_ENST00000427277.2_Frame_Shift_Del_p.E67fs|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Frame_Shift_Del_p.E455fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.E67fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.E441fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	455					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCTTCGCAGAGGACACAGGCG	0.647																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(1363-1365)gafs		WNK lysine deficient protein kinase 2							33	24	27					9																	96002081		2197	4282	6479	SO:0001589	frameshift_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96002081delG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1365delG	9.37:g.96002081delG	ENSP00000297954:p.Glu455fs					WNK2_ENST00000427277.2_Frame_Shift_Del_p.E67fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.E67fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.E441fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.E455fs|WNK2_ENST00000356055.3_5'UTR	p.E455fs			Q9Y3S1	WNK2_HUMAN			6	1365	+			455					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	ENST00000297954.4	37	c.1365delG																																																																																					0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		2	4						2	4	---	---	---	---	-	96002081	G	-	96002081	7	5	18	1	0	1	0	1	0	0	0	0	17375	991	35	0	1387	0	WNK2	9	96002081	Frame_Shift_Del	DEL	G	TCGA-QR-A6GZ-01A-11D-A35D-08		96002081	45211350	6	352										
OR10A5	144124	broad.mit.edu	37	chr11	6867636	6867636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aagcataaagccttctctacGtgctcctcacacctccttgt	5	15	2	0			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr11:6867636G>A	ENST00000299454.4	+	1	754	c.723G>A	c.(721-723)acG>acA	p.T241T	OR10A5_ENST00000379831.2_Silent_p.T245T			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	241					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTTCTCTACGTGCTCCTCAC	0.443																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(721-723)acG>acA		olfactory receptor, family 10, subfamily A, member 5							259	227	238					11																	6867636		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867636G>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.723G>A	11.37:g.6867636G>A						OR10A5_ENST00000379831.2_Silent_p.T245T	p.T241T			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	754	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	241					O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.723G>A	CCDS7773.1																																																																																				0.443	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		4	107	0	0	0	1	0	4	107					A	6867636	G	A	6867636	2	1	18	1	0	0	0	0	0	0	0	1	10893	1132	40	1		1	OR10A5	11	6867636	Silent	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		6867636	128138880	7	353										
PTPRCAP	5790	broad.mit.edu	37	chr11	67203697	67203699	+	In_Frame_Del	DEL	AGC	AGC	-													0	0	1	0	NA	0	1	1	0	ggccagtggccagcagtaggAgcagcagcagcagcaggaca							TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr11:67203697_67203699delAGC	ENST00000326294.3	-	2	573_575	c.126_128delGCT	c.(124-129)ctgctc>ctc	p.42_43LL>L	CORO1B_ENST00000539724.1_5'Flank|AP003419.16_ENST00000535922.1_RNA	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	42					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			cagcagtaggagcagcagcagca	0.714																																						ENST00000326294.3																			0				skin(1)|upper_aerodigestive_tract(1)	2						c.(124-129)ctc>ct		protein tyrosine phosphatase, receptor type, C-associated protein				68,3844		14,40,1902						-9.9	0			6	131,7505		23,85,3710	no	coding	PTPRCAP	NM_005608.2		37,125,5612	A1A1,A1R,RR		1.7156,1.7382,1.7232				199,11349				SO:0001651	inframe_deletion	5790				defense response	integral to membrane|plasma membrane		g.chr11:67203697_67203699delAGC		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.126_128delGCT	11.37:g.67203706_67203708delAGC	ENSP00000325589:p.Leu46del						p.LL44del	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		2	573_575	-			44					B2R512|O00643|Q6I9S6	In_Frame_Del	DEL	ENST00000326294.3	37	c.126_128delGCT	CCDS8163.1																																																																																				0.714	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317563.1	NM_005608		2	4						2	4	---	---	---	---	-	67203699	AGC	-	67203697	7	5	18	1	0	1	0	1	0	0	0	0	12798	304	11	0	496	0	PTPRCAP	11	67203697	In_Frame_Del	DEL	AGC	TCGA-QR-A6GZ-01A-11D-A35D-08	60336061	67203697	67802819	8	354										
MMP19	4327	broad.mit.edu	37	chr12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagtggtatccaaggttatgCccgtacctgagggagtggta	15	7	0	1			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr12:56230872C>T	ENST00000322569.4	-	9	1566	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	MMP19_ENST00000548629.1_Missense_Mutation_p.G469D|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Missense_Mutation_p.G206D	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	492					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CAAGGTTATGCCCGTACCTGA	0.507																																						ENST00000394182.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						c.(616-618)gGc>gAc		matrix metallopeptidase 19							254	240	245					12																	56230872		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56230872C>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"matrix metalloproteinase 19"	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1475G>A	12.37:g.56230872C>T	ENSP00000313437:p.Gly492Asp					MMP19_ENST00000548629.1_Missense_Mutation_p.G469D|MMP19_ENST00000322569.4_Missense_Mutation_p.G492D|MMP19_ENST00000409200.3_3'UTR	p.G206D			Q99542	MMP19_HUMAN			4	616	-			492					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.617G>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388699	0.25118	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.16196	4.61;2.52;2.36	5.08	-1.03	0.10102	.	380.668000	0.00166	N	0.000000	T	0.09905	0.0243	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.27262	-1.0079	10	0.08381	T	0.77	.	8.2874	0.31937	0.0:0.4412:0.0:0.5588	.	492;206	Q99542;Q99542-3	MMP19_HUMAN;.	D	206;492;469	ENSP00000377736:G206D;ENSP00000313437:G492D;ENSP00000446979:G469D	ENSP00000313437:G492D	G	-	2	0	MMP19	54517139	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.224000	0.02959	-0.161000	0.10983	-0.291000	0.09656	GGC		0.507	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		4	156	0	0	0	1	0	4	156					T	56230872	C	T	56230872	3	4	18	1	0	0	0	0	1	0	0	0	9657	739	26	3	55	3	MMP19	12	56230872	Missense_Mutation	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		56230872	77621023	9	355										
TPCN1	53373	broad.mit.edu	37	chr12	113714812	113714812	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caagcgaaccgctatccagcAtgcctaccgcctgctcatca	7	17	2	0			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr12:113714812A>G	ENST00000335509.6	+	11	1345	c.1031A>G	c.(1030-1032)cAt>cGt	p.H344R	TPCN1_ENST00000550785.1_Missense_Mutation_p.H416R|TPCN1_ENST00000392569.4_Missense_Mutation_p.H276R|TPCN1_ENST00000541517.1_Missense_Mutation_p.H416R	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	344					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GCTATCCAGCATGCCTACCGC	0.567																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1246-1248)cAt>cGt		two pore segment channel 1							197	195	196					12																	113714812		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113714812A>G	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1031A>G	12.37:g.113714812A>G	ENSP00000335300:p.His344Arg					TPCN1_ENST00000392569.4_Missense_Mutation_p.H276R|TPCN1_ENST00000541517.1_Missense_Mutation_p.H416R|TPCN1_ENST00000335509.6_Missense_Mutation_p.H344R	p.H416R	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			12	1416	+			344					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.1247A>G	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	A	8.548	0.874813	0.17395	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.96491	-3.93;-4.03;-4.03;-3.99	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	L	0.38531	1.155	0.58432	D	0.999993	B;P;B	0.39352	0.126;0.669;0.185	B;B;B	0.38020	0.027;0.263;0.057	D	0.91657	0.5339	10	0.10111	T	0.7	-28.1955	15.4089	0.74902	1.0:0.0:0.0:0.0	.	344;416;344	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	R	344;416;416;276	ENSP00000335300:H344R;ENSP00000448083:H416R;ENSP00000438125:H416R;ENSP00000376350:H276R	ENSP00000335300:H344R	H	+	2	0	TPCN1	112199195	1.000000	0.71417	0.977000	0.42913	0.363000	0.29612	8.333000	0.90026	2.117000	0.64856	0.496000	0.49642	CAT		0.567	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		63	159	0	0	0	1	0	63	159					G	113714812	A	G	113714812	3	3	18	1	0	0	0	0	1	0	0	0	16392	217	8	4	1289	4	TPCN1	12	113714812	Missense_Mutation	SNP	A	TCGA-QR-A6GZ-01A-11D-A35D-08	57483940	113714812	20137083	10	356										
SALL1	6299	broad.mit.edu	37	chr16	51173041	51173041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agccacgattgcaaactgtgCaaataaatggtctctctttg	8	9	2	0			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr16:51173041C>T	ENST00000251020.4	-	2	3125	c.3092G>A	c.(3091-3093)tGc>tAc	p.C1031Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C934Y|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1031					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCAAACTGTGCAAATAAATGG	0.423																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2800-2802)tGc>tAc		spalt-like transcription factor 1							86	84	85					16																	51173041		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173041C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3092G>A	16.37:g.51173041C>T	ENSP00000251020:p.Cys1031Tyr					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.C1031Y	p.C934Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3232	-		all_cancers(37;0.0322)	1031					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2801G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210209	0.39003	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	D;D	0.85088	-1.94;-1.94	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94776	0.7949	10	0.72032	D	0.01	.	20.1337	0.98010	0.0:1.0:0.0:0.0	.	1031	Q9NSC2	SALL1_HUMAN	Y	1031;934;995	ENSP00000251020:C1031Y;ENSP00000407914:C934Y	ENSP00000251020:C1031Y	C	-	2	0	SALL1	49730542	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	7.818000	0.86416	2.753000	0.94483	0.650000	0.86243	TGC		0.423	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		8	36	0	0	0	1	0	8	36					T	51173041	C	T	51173041	3	4	18	1	0	0	0	0	1	0	0	0	13810	710	25	3	890	3	SALL1	16	51173041	Missense_Mutation	SNP	C	TCGA-QR-A6GZ-01A-11D-A35D-08		51173041	39181712	11	357										
CDH20	28316	broad.mit.edu	37	chr18	59221533	59221533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctacgacgacgagggcggcGgcgaggaggacaccgaggcc	19	12	0	0			TCGA-QR-A6GZ-01A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3bfaaf-b42e-4279-a234-da6b29fffb5f	dc831897-5afc-4187-860f-4ac7b570871d	g.chr18:59221533G>A	ENST00000262717.4	+	12	2409	c.2011G>A	c.(2011-2013)Ggc>Agc	p.G671S	CDH20_ENST00000536675.2_Missense_Mutation_p.G671S|CDH20_ENST00000538374.1_Missense_Mutation_p.G671S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	671					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGAGGGCGGCGGCGAGGAGGA	0.652																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(2011-2013)Ggc>Agc		cadherin 20, type 2							102	102	102					18																	59221533		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221533G>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2011G>A	18.37:g.59221533G>A	ENSP00000262717:p.Gly671Ser					CDH20_ENST00000536675.2_Missense_Mutation_p.G671S|CDH20_ENST00000538374.1_Missense_Mutation_p.G671S	p.G671S			Q9HBT6	CAD20_HUMAN			12	2409	+		Colorectal(73;0.186)	671					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2011G>A	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047846	0.93740	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	D;D;D	0.98701	-5.08;-5.08;-5.08	5.39	4.46	0.54185	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98720	1.0708	10	0.87932	D	0	.	15.8931	0.79315	0.0:0.1353:0.8647:0.0	.	671	Q9HBT6	CAD20_HUMAN	S	671	ENSP00000444767:G671S;ENSP00000442226:G671S;ENSP00000262717:G671S	ENSP00000262717:G671S	G	+	1	0	CDH20	57372513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.943000	0.87716	2.699000	0.92147	0.655000	0.94253	GGC		0.652	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		29	96	0	0	0	1	0	29	96					A	59221533	G	A	59221533	3	1	18	1	0	0	0	0	1	0	0	0	3106	1116	39	2	2053	2	CDH20	18	59221533	Missense_Mutation	SNP	G	TCGA-QR-A6GZ-01A-11D-A35D-08		59221533	18855715	12	358										
TCHH	7062	broad.mit.edu	37	chr1	152082552	152082552	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	tcttcctcccgatattgcctCtcccgctcctggagtcttct	6	17	4	0	rs375526947		TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr1:152082552C>T	ENST00000368804.1	-	2	3140	c.3141G>A	c.(3139-3141)gaG>gaA	p.E1047E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1047	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATATTGCCTCTCCCGCTCCT	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3139-3141)gaG>gaA		trichohyalin							122	125	124					1																	152082552		1959	4139	6098	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082552C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3141G>A	1.37:g.152082552C>T							p.E1047E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3140	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1047			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3141G>A	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	105	0	0	0	1	0	4	105					T	152082552	C	T	152082552	2	4	19	1	0	0	0	0	0	0	0	1	15697	912	32	3		3	TCHH	1	152082552	Silent	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		152082552	97168069	1	359										
SLC25A44	9673	broad.mit.edu	37	chr1	156177746	156177746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	agctgtctcggggcccctggCtgcagccactgcctccatcc	11	18	1	0			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr1:156177746C>T	ENST00000359511.4	+	3	867	c.695C>T	c.(694-696)gCt>gTt	p.A232V	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.A209V	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	232					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGGCCCCTGGCTGCAGCCACT	0.557																																						ENST00000359511.4																			0				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(694-696)gCt>gTt		solute carrier family 25, member 44							98	82	87					1																	156177746		2203	4300	6503	SO:0001583	missense	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156177746C>T	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.695C>T	1.37:g.156177746C>T	ENSP00000352497:p.Ala232Val					SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.A209V	p.A232V	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN			3	867	+	Hepatocellular(266;0.158)		232					O75034	Missense_Mutation	SNP	ENST00000359511.4	37	c.695C>T	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955019	0.92726	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	D;D	0.87256	-2.23;-2.23	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.056219	0.64402	D	0.000001	D	0.94062	0.8097	M	0.91612	3.225	0.80722	D	1	D;D;D	0.67145	0.992;0.996;0.989	P;D;D	0.71656	0.894;0.962;0.974	D	0.94855	0.8017	10	0.87932	D	0	-7.6045	16.2196	0.82251	0.0:1.0:0.0:0.0	.	209;209;232	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	V	232;209	ENSP00000352497:A232V;ENSP00000407560:A209V	ENSP00000352497:A232V	A	+	2	0	SLC25A44	154444370	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.435000	0.80391	2.677000	0.91161	0.637000	0.83480	GCT		0.557	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		9	41	0	0	0	1	0	9	41					T	156177746	C	T	156177746	3	4	19	1	0	0	0	0	1	0	0	0	14509	797	28	3	701	3	SLC25A44	1	156177746	Missense_Mutation	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08	4095194	156177746	93072875	2	360										
MED12L	116931	broad.mit.edu	37	chr3	151067935	151067935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	tgaagcaaggcatcagctgaAgaagattaccaaagatatcc	9	8	1	5			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr3:151067935A>C	ENST00000474524.1	+	15	2272	c.2234A>C	c.(2233-2235)aAg>aCg	p.K745T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.K605T|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	745						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCAGCTGAAGAAGATTACC	0.418																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2233-2235)aAg>aCg		mediator complex subunit 12-like							154	159	157					3																	151067935		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151067935A>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2234A>C	3.37:g.151067935A>C	ENSP00000417235:p.Lys745Thr					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.K605T|MED12L_ENST00000491549.1_3'UTR	p.K745T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		15	2272	+			745					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2234A>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383166	0.61845	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.69561	-0.23;-0.41	5.81	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	L	0.52126	1.63	0.80722	D	1	D;B	0.69078	0.997;0.384	D;B	0.71184	0.972;0.159	T	0.77305	-0.2637	10	0.87932	D	0	-29.2242	12.5486	0.56214	0.8606:0.1394:0.0:0.0	.	605;745	F8WAE6;Q86YW9	.;MD12L_HUMAN	T	745;605	ENSP00000417235:K745T;ENSP00000273432:K605T	ENSP00000273432:K605T	K	+	2	0	MED12L	152550625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.693000	0.74582	0.979000	0.38497	0.455000	0.32223	AAG		0.418	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	88	0	0	0	1	0	4	88					C	151067935	A	C	151067935	3	2	19	1	0	0	0	0	1	0	0	0	9429	72	3	5	2292	5	MED12L	3	151067935	Missense_Mutation	SNP	A	TCGA-QR-A6H0-01A-11D-A35D-08		151067935	46954495	3	361										
NLGN1	22871	broad.mit.edu	37	chr3	173322724	173322724	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	gatatcagaaatgccactcaAtttgctcctgtgtgtcccca	7	12	2	1			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr3:173322724A>G	ENST00000457714.1	+	3	765	c.336A>G	c.(334-336)caA>caG	p.Q112Q	NLGN1_ENST00000361589.4_Silent_p.Q112Q|NLGN1_ENST00000401917.3_Silent_p.Q112Q|NLGN1_ENST00000545397.1_Silent_p.Q112Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	112					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATGCCACTCAATTTGCTCCTG	0.463																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(334-336)caA>caG		neuroligin 1							167	162	164					3																	173322724		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322724A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.336A>G	3.37:g.173322724A>G						NLGN1_ENST00000545397.1_Silent_p.Q112Q|NLGN1_ENST00000401917.3_Silent_p.Q112Q|NLGN1_ENST00000361589.4_Silent_p.Q112Q	p.Q112Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	765	+	Ovarian(172;0.0025)		112					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.336A>G	CCDS3222.1																																																																																				0.463	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		18	69	0	0	0	1	0	18	69					G	173322724	A	G	173322724	2	3	19	1	0	0	0	0	0	0	0	1	10461	98	4	4		4	NLGN1	3	173322724	Silent	SNP	A	TCGA-QR-A6H0-01A-11D-A35D-08	22254789	173322724	24699706	4	362										
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	22	0	0	0	1	0	4	22					T	140811108	C	T	140811108	2	4	19	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		140811108	50343168	5	363										
TRIML1	339976	broad.mit.edu	37	chr4	189060901	189060901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	tggaggaccttggagggcccGcatttccagtcaaacgagcg	14	11	1	0	rs147444946	byFrequency	TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602													G|||	4	0.000798722	0.003	0	5008	,	,		18184	0		0	False		,,,				2504	0				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(187-189)ccG>ccA		tripartite motif family-like 1		G		5,4401	9.9+/-24.2	0,5,2198	83	88	86		189	-11.2	0	4	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	TRIML1	NM_178556.3		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		63/469	189060901	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060901G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.189G>A	4.37:g.189060901G>A							p.P63P	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	329	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	63					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.189G>A	CCDS3851.1																																																																																				0.602	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		7	73	0	0	0	1	0	7	73					A	189060901	G	A	189060901	2	1	19	1	0	0	0	0	0	0	0	1	16547	1074	38	1		1	TRIML1	4	189060901	Silent	SNP	G	TCGA-QR-A6H0-01A-11D-A35D-08	48249793	189060901	2093375	6	364										
TULP1	7287	broad.mit.edu	37	chr6	35473863	35473863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	gtcccgggtcagccggcagcGcaccgtgcggccctgggggg	19	15	1	0			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr6:35473863G>A	ENST00000229771.6	-	10	995	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	TULP1_ENST00000322263.4_Missense_Mutation_p.R253C	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	306					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGCAGCGCACCGTGCGG	0.677																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(916-918)Cgc>Tgc		tubby like protein 1							48	55	53					6																	35473863		2203	4299	6502	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35473863G>A	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.916C>T	6.37:g.35473863G>A	ENSP00000229771:p.Arg306Cys					TULP1_ENST00000322263.4_Missense_Mutation_p.R253C	p.R306C	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			10	995	-			306					O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.916C>T	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591678	0.66219	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.96716	-4.1;-4.1	4.88	4.88	0.63580	Tubby, C-terminal (3);	0.394694	0.25639	N	0.029286	D	0.91185	0.7223	L	0.60845	1.875	0.54753	D	0.999985	P;B	0.42161	0.772;0.1	B;B	0.32864	0.154;0.063	D	0.92612	0.6100	10	0.87932	D	0	-3.0E-4	10.9973	0.47585	0.0:0.0:0.6892:0.3108	.	253;306	O00294-2;O00294	.;TULP1_HUMAN	C	306;253	ENSP00000229771:R306C;ENSP00000319414:R253C	ENSP00000229771:R306C	R	-	1	0	TULP1	35581841	1.000000	0.71417	0.964000	0.40570	0.975000	0.68041	5.589000	0.67523	2.543000	0.85770	0.484000	0.47621	CGC		0.677	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			14	42	0	0	0	1	0	14	42					A	35473863	G	A	35473863	3	1	19	1	0	0	0	0	1	0	0	0	16770	1087	38	1	736	1	TULP1	6	35473863	Missense_Mutation	SNP	G	TCGA-QR-A6H0-01A-11D-A35D-08		35473863	135641204	7	365										
LCA5	167691	broad.mit.edu	37	chr6	80201370	80201370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	aattgtttctggagttaaagGatattcttctggcttgaagt	10	4	3	1			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr6:80201370G>A	ENST00000392959.1	-	7	1644	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	LCA5_ENST00000467898.3_Missense_Mutation_p.P345S|LCA5_ENST00000369846.4_Missense_Mutation_p.P345S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	345					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GGAGTTAAAGGATATTCTTCT	0.373																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1033-1035)Cct>Tct		Leber congenital amaurosis 5							219	206	211					6																	80201370		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80201370G>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1033C>T	6.37:g.80201370G>A	ENSP00000376686:p.Pro345Ser					LCA5_ENST00000369846.4_Missense_Mutation_p.P345S|LCA5_ENST00000467898.2_Missense_Mutation_p.P345S	p.P345S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	7	1644	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	345					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1033C>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	4.324	0.059431	0.08339	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.42131	0.98;0.98	5.11	0.893	0.19236	.	0.411149	0.26227	N	0.025586	T	0.19725	0.0474	M	0.61703	1.905	0.09310	N	0.999997	P	0.34724	0.465	B	0.37198	0.243	T	0.12578	-1.0542	10	0.45353	T	0.12	-0.418	7.5233	0.27641	0.4027:0.0:0.5973:0.0	.	345	Q86VQ0	LCA5_HUMAN	S	345	ENSP00000358861:P345S;ENSP00000376686:P345S	ENSP00000358861:P345S	P	-	1	0	LCA5	80258089	0.613000	0.27009	0.011000	0.14972	0.002000	0.02628	1.281000	0.33214	0.032000	0.15435	-0.229000	0.12294	CCT		0.373	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		21	111	0	0	0	1	0	21	111					A	80201370	G	A	80201370	3	1	19	1	0	0	0	0	1	0	0	0	8656	1174	41	3	1072	3	LCA5	6	80201370	Missense_Mutation	SNP	G	TCGA-QR-A6H0-01A-11D-A35D-08	44727507	80201370	90913697	8	366										
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	cataatcaagaactccagccTttttttccacaaaagaaatt	3	10	1	2	rs35128811		TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr6:152539540T>C	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125	136	132					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22045-2A>G	6.37:g.152539540T>C		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192011	0.38707	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9247	0.79606	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152581233	1.000000	0.71417	0.823000	0.32752	0.548000	0.35241	6.065000	0.71176	2.160000	0.67779	0.528000	0.53228	.		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	4	131	0	0	0	1	0	4	131					C	152539540	T	C	152539540	5	2	19	1	0	0	0	0	0	0	1	0	15442	1623	56	4	4527	4	SYNE1	6	152539540	Splice_Site	SNP	T	TCGA-QR-A6H0-01A-11D-A35D-08	72338170	152539540	18575527	9	367										
ARMC3	219681	broad.mit.edu	37	chr10	23248052	23248052	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	tcatgaattctgtcattgccCagctcgctccagaaggtaac	8	12	3	2			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr10:23248052C>G	ENST00000298032.5	+	5	430	c.346C>G	c.(346-348)Cag>Gag	p.Q116E	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q116E|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q116E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	116						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTCATTGCCCAGCTCGCTCC	0.284																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(346-348)Cag>Gag		armadillo repeat containing 3							108	110	110					10																	23248052		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23248052C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.346C>G	10.37:g.23248052C>G	ENSP00000298032:p.Gln116Glu					ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q116E|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q116E	p.Q116E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			5	430	+			116					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.346C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	4.372	0.068543	0.08436	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000447081	T;T;T;T	0.51574	0.79;0.79;1.45;0.7	5.15	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.782790	0.12558	N	0.458421	T	0.41604	0.1166	L	0.44542	1.39	0.80722	D	1	B;B;B	0.28971	0.218;0.005;0.229	B;B;B	0.27076	0.076;0.008;0.058	T	0.13202	-1.0518	10	0.22706	T	0.39	-20.9269	14.7577	0.69579	0.1567:0.8433:0.0:0.0	.	116;28;116	Q5W041-4;C9JC46;Q5W041	.;.;ARMC3_HUMAN	E	116;116;116;116;28	ENSP00000298032:Q116E;ENSP00000386943:Q116E;ENSP00000387288:Q116E;ENSP00000396629:Q28E	ENSP00000298032:Q116E	Q	+	1	0	ARMC3	23288058	1.000000	0.71417	0.862000	0.33874	0.196000	0.23810	2.962000	0.49176	1.224000	0.43551	0.650000	0.86243	CAG		0.284	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		9	73	0	0	0	1	0	9	73					G	23248052	C	G	23248052	3	3	19	1	0	0	0	0	1	0	0	0	952	595	21	5	360	5	ARMC3	10	23248052	Missense_Mutation	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		23248052	112286695	10	368										
TRUB1	142940	broad.mit.edu	37	chr10	116698250	116698250	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	ccgtgcacaagcccaaagggCccacttcagccgagctgctg							TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr10:116698250delC	ENST00000298746.3	+	1	299	c.238delC	c.(238-240)cccfs	p.P80fs	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	80					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GCCCAAAGGGCCCACTTCAGC	0.657																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(238-240)ccfs		TruB pseudouridine (psi) synthase family member 1							12	13	13					10																	116698250		2202	4298	6500	SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116698250delC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.238delC	10.37:g.116698250delC	ENSP00000298746:p.Pro80fs					TRUB1_ENST00000485065.1_3'UTR	p.P80fs	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	1	299	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	80					B2R716|Q53ES2	Frame_Shift_Del	DEL	ENST00000298746.3	37	c.238delC	CCDS7591.1																																																																																				0.657	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		2	4						2	4	---	---	---	---	-	116698250	C	-	116698250	7	5	19	1	0	1	0	1	0	0	0	0	16599	739	26	0	240	0	TRUB1	10	116698250	Frame_Shift_Del	DEL	C	TCGA-QR-A6H0-01A-11D-A35D-08	93450198	116698250	18836497	11	369										
APOA1	335	broad.mit.edu	37	chr11	116706628	116706628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	ttggcggaggtcctcgagcgCgggcttggccttctcgctga	16	12	1	1			TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr11:116706628C>T	ENST00000236850.4	-	4	1065	c.700G>A	c.(700-702)Gcg>Acg	p.A234T	APOA1_ENST00000359492.2_Missense_Mutation_p.A234T|APOA1_ENST00000375323.1_Missense_Mutation_p.A234T|APOA1_ENST00000375329.2_Missense_Mutation_p.A212T|APOA1_ENST00000375320.1_Missense_Mutation_p.A234T|AP006216.12_ENST00000444200.1_RNA	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	234	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCTCGAGCGCGGGCTTGGCC	0.642																																						ENST00000236850.4																			0				cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9						c.(700-702)Gcg>Acg		apolipoprotein A-I							38	42	41					11																	116706628		2200	4287	6487	SO:0001583	missense	335				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding	g.chr11:116706628C>T	X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"Apolipoproteins"	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.700G>A	11.37:g.116706628C>T	ENSP00000236850:p.Ala234Thr					APOA1_ENST00000375320.1_Missense_Mutation_p.A234T|APOA1_ENST00000375323.1_Missense_Mutation_p.A234T|APOA1_ENST00000375329.2_Missense_Mutation_p.A212T|APOA1_ENST00000359492.2_Missense_Mutation_p.A234T	p.A234T	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	4	1065	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	234			10 X approximate tandem repeats.		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	c.700G>A	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967438	0.18659	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	4.78	-0.0197	0.13958	.	0.849622	0.09829	U	0.750468	T	0.59390	0.2190	L	0.52364	1.645	0.09310	N	1	B	0.23891	0.093	B	0.19148	0.024	T	0.43782	-0.9370	10	0.25751	T	0.34	-14.8559	7.1552	0.25632	0.0:0.229:0.5581:0.213	.	234	P02647	APOA1_HUMAN	T	234;234;212;234;234	ENSP00000364469:A234T;ENSP00000352471:A234T;ENSP00000364478:A212T;ENSP00000364472:A234T;ENSP00000236850:A234T	ENSP00000236850:A234T	A	-	1	0	APOA1	116211838	0.000000	0.05858	0.014000	0.15608	0.420000	0.31355	0.029000	0.13666	0.147000	0.19030	-0.264000	0.10439	GCG		0.642	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		3	54	0	0	0	1	0	3	54					T	116706628	C	T	116706628	3	4	19	1	0	0	0	0	1	0	0	0	780	768	27	1	107	1	APOA1	11	116706628	Missense_Mutation	SNP	C	TCGA-QR-A6H0-01A-11D-A35D-08		116706628	18299888	12	370										
CCDC137	339230	broad.mit.edu	37	chr17	79639622	79639622	+	Frame_Shift_Del	DEL	A	A	-													0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	ccgccagcggattgtggaggAggagagagagcgggccgtgc					rs35963091		TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chr17:79639622delA	ENST00000329214.8	+	6	1161	c.758delA	c.(757-759)gagfs	p.E254fs		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	254							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATTGTGGAGGAGGAGAGAGAG	0.672																																						ENST00000329214.8																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12						c.(757-759)ggfs		coiled-coil domain containing 137							13	17	16					17																	79639622		2001	4148	6149	SO:0001589	frameshift_variant	339230							g.chr17:79639622delA	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.758delA	17.37:g.79639622delA	ENSP00000329360:p.Glu254fs						p.E254fs	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		6	1161	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		254						Frame_Shift_Del	DEL	ENST00000329214.8	37	c.758delA	CCDS42400.1																																																																																				0.672	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			2	4						2	4	---	---	---	---	-	79639622	A	-	79639622	7	5	19	1	0	1	0	1	0	0	0	0	2771	304	11	0	780	0	CCDC137	17	79639622	Frame_Shift_Del	DEL	A	TCGA-QR-A6H0-01A-11D-A35D-08		79639622	1555588	13	371										
EFNB1	1947	broad.mit.edu	37	chrX	68058545	68058545	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	1.03333333333333	0	1.18095238095238	1	1	0	cccgagcagaagcagggcggCcctatgagtactacaagctg							TCGA-QR-A6H0-01A-11D-A35D-08	TCGA-QR-A6H0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7beead6-bfb3-41cd-8d66-b630a1d927ca	8c64013f-3fef-4ace-ae3d-75f927c4c567	g.chrX:68058545delC	ENST00000204961.4	+	2	994	c.214delC	c.(214-216)cccfs	p.P72fs		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	72	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCAGGGCGGCCCTATGAGTA	0.572																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(214-216)ccfs		ephrin-B1							61	47	52					X																	68058545		2203	4300	6503	SO:0001589	frameshift_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058545delC	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"Ephrins"	3226	protein-coding gene	gene with protein product		300035	"craniofrontonasal syndrome (craniofrontonasal dysplasia)"	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.214delC	X.37:g.68058545delC	ENSP00000204961:p.Pro72fs						p.P72fs	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			2	994	+			72					D3DVU0	Frame_Shift_Del	DEL	ENST00000204961.4	37	c.214delC	CCDS14391.1																																																																																				0.572	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		2	4						2	4	---	---	---	---	-	68058545	C	-	68058545	7	5	19	1	0	1	0	1	0	0	0	0	4955	739	26	0	220	0	EFNB1	23	68058545	Frame_Shift_Del	DEL	C	TCGA-QR-A6H0-01A-11D-A35D-08		68058545	87212015	14	372										
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	atgagtctcatctttcttcaTggagctactgctctgctcct	7	12	5	1	rs200282759	byFrequency	TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	229						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(685-687)Atg>Gtg		heterogeneous nuclear ribonucleoprotein C-like 1							110	112	112					1																	12907458		2203	4297	6500	SO:0001583	missense	343069							g.chr1:12907458T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.685A>G	1.37:g.12907458T>C	ENSP00000365370:p.Met229Val						p.M229V	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	910	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.685A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.367597	0.00015	.	.	ENSG00000179172	ENST00000317869	T	0.08807	3.05	1.09	-1.67	0.08238	.	33.202900	0.00166	N	0.000000	T	0.02727	0.0082	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	10	0.24483	T	0.36	.	3.6976	0.08371	0.0:0.2307:0.2991:0.4701	.	229	O60812	HNRCL_HUMAN	V	229	ENSP00000365370:M229V	ENSP00000365370:M229V	M	-	1	0	HNRNPCL1	12830045	0.986000	0.35501	0.919000	0.36401	0.078000	0.17371	0.226000	0.17776	-0.440000	0.07211	-2.072000	0.00384	ATG		0.458	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		5	68	0	0	0	1	0	5	68					C	12907458	T	C	12907458	3	2	20	1	0	0	0	0	1	0	0	0	7263	1464	51	4	198	4	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08		12907458	236343163	1	373										
SOX13	9580	broad.mit.edu	37	chr1	204083473	204083473	+	Frame_Shift_Del	DEL	G	G	-													0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	gtagctctccagagggtaatGggtccccagaacccaagaga							TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:204083473delG	ENST00000367204.1	+	3	353	c.244delG	c.(244-246)gggfs	p.G82fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	82					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAGGGTAATGGGTCCCCAGA	0.552																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(244-246)ggfs		SRY (sex determining region Y)-box 13							37	38	38					1																	204083473		1906	4124	6030	SO:0001589	frameshift_variant	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204083473delG		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.244delG	1.37:g.204083473delG	ENSP00000356172:p.Gly82fs					SOX13_ENST00000367203.4_3'UTR	p.G82fs	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	353	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		82					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Frame_Shift_Del	DEL	ENST00000367204.1	37	c.244delG	CCDS44299.1																																																																																				0.552	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		2	4						2	4	---	---	---	---	-	204083473	G	-	204083473	7	5	20	1	0	1	0	1	0	0	0	0	14944	1348	47	0	250	0	SOX13	1	204083473	Frame_Shift_Del	DEL	G	TCGA-QR-A6H1-01A-11D-A35D-08	191176015	204083473	45167148	2	374										
COG2	22796	broad.mit.edu	37	chr1	230825896	230825896	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	cactctcagtgaaagcactcAtaagtaagtaaattaaaagc	6	8	2	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr1:230825896A>G	ENST00000366669.4	+	16	2046	c.1931A>G	c.(1930-1932)cAt>cGt	p.H644R	COG2_ENST00000534989.1_Missense_Mutation_p.H585R|COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000366668.3_Missense_Mutation_p.H643R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R|COG2_ENST00000490900.1_3'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	644					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAAAGCACTCATAAGTAAGTA	0.473																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1753-1755)cAt>cGt		component of oligomeric golgi complex 2							77	77	77					1																	230825896		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230825896A>G	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1931A>G	1.37:g.230825896A>G	ENSP00000355629:p.His644Arg					COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R|COG2_ENST00000366669.4_Missense_Mutation_p.H644R|COG2_ENST00000366668.3_Missense_Mutation_p.H643R	p.H585R			Q14746	COG2_HUMAN			16	2089	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	644					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1754A>G	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	A	6.848	0.525659	0.13066	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.91	4.8	0.61643	COG complex component, COG2, C-terminal (1);	0.286853	0.45867	D	0.000335	T	0.29850	0.0746	L	0.40543	1.245	0.45704	D	0.998618	B;B	0.13594	0.008;0.001	B;B	0.11329	0.006;0.006	T	0.10965	-1.0607	10	0.19590	T	0.45	-24.5155	7.4743	0.27368	0.7849:0.1438:0.0713:0.0	.	643;644	Q86U99;Q14746	.;COG2_HUMAN	R	644;528;643;585;333	ENSP00000355629:H644R;ENSP00000445724:H528R;ENSP00000355628:H643R;ENSP00000440349:H585R;ENSP00000442147:H333R	ENSP00000355628:H643R	H	+	2	0	COG2	228892519	0.997000	0.39634	0.960000	0.40013	0.076000	0.17211	4.592000	0.61027	2.266000	0.75297	0.533000	0.62120	CAT		0.473	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		34	47	0	0	0	1	0	34	47					G	230825896	A	G	230825896	3	3	20	1	0	0	0	0	1	0	0	0	3658	217	8	4	1993	4	COG2	1	230825896	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08	26742423	230825896	18424725	3	375										
SMC6	79677	broad.mit.edu	37	chr2	17883154	17883154	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	tctcaagttcccgaatttcaGaaatattttttcttattttc	3	8	3	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:17883154G>A	ENST00000448223.2	-	20	2434	c.2165C>T	c.(2164-2166)tCt>tTt	p.S722F	SMC6_ENST00000402989.1_Missense_Mutation_p.S722F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F|SMC6_ENST00000381272.4_Missense_Mutation_p.S748F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	722					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCGAATTTCAGAAATATTTTT	0.249																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2164-2166)tCt>tTt		structural maintenance of chromosomes 6							37	37	37					2																	17883154		2195	4286	6481	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17883154G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2165C>T	2.37:g.17883154G>A	ENSP00000404092:p.Ser722Phe					SMC6_ENST00000402989.1_Missense_Mutation_p.S722F|SMC6_ENST00000381272.4_Missense_Mutation_p.S748F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F	p.S722F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			20	2434	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		722					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.2165C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339736	0.41398	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.17	4.27	0.50696	RecF/RecN/SMC (1);	0.522298	0.21488	N	0.073730	T	0.19127	0.0459	N	0.08118	0	0.28377	N	0.919737	P;P	0.41214	0.557;0.742	B;B	0.43536	0.359;0.423	T	0.05037	-1.0910	10	0.51188	T	0.08	.	10.2774	0.43519	0.1528:0.0:0.8472:0.0	.	748;722	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	F	722;722;748;722	ENSP00000404092:S722F;ENSP00000323439:S722F;ENSP00000370672:S748F;ENSP00000384539:S722F	ENSP00000323439:S722F	S	-	2	0	SMC6	17746635	0.318000	0.24598	0.996000	0.52242	0.960000	0.62799	1.736000	0.38187	2.565000	0.86533	0.585000	0.79938	TCT		0.249	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		12	26	0	0	0	1	0	12	26					A	17883154	G	A	17883154	3	1	20	1	0	0	0	0	1	0	0	0	14787	942	33	3	1146	3	SMC6	2	17883154	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		17883154	225316219	4	376										
XDH	7498	broad.mit.edu	37	chr2	31628832	31628832	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	ctgcatttttctccaccaccTattaaaataaatgaaagaaa	3	9	1	2			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:31628832T>C	ENST00000379416.3	-	2	91		c.e2-2			NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CTCCACCACCTATTAAAATAA	0.383																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.e2-2		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						94	90	91					2																	31628832		2203	4300	6503	SO:0001630	splice_region_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31628832T>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.43-2A>G	2.37:g.31628832T>C								NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			2	91	-	Acute lymphoblastic leukemia(172;0.155)							Q16681|Q16712|Q4PJ16	Splice_Site	SNP	ENST00000379416.3	37		CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456614	0.63401	.	.	ENSG00000158125	ENST00000379416	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0379	0.64656	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	XDH	31482336	1.000000	0.71417	0.932000	0.37286	0.728000	0.41692	6.726000	0.74758	2.194000	0.70268	0.379000	0.24179	.		0.383	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	Intron	17	40	0	0	0	1	0	17	40					C	31628832	T	C	31628832	5	2	20	1	0	0	0	0	0	0	1	0	17423	1536	53	4	4100	4	XDH	2	31628832	Splice_Site	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08	13745678	31628832	211570541	5	377										
LRP1B	53353	broad.mit.edu	37	chr2	141092044	141092044	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	gtgggtctctgtaagttcttTtgtactaaaatccttctcag	8	8	3	0			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:141092044T>C	ENST00000389484.3	-	79	13172	c.12201A>G	c.(12199-12201)caA>caG	p.Q4067Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4067					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAAGTTCTTTTGTACTAAAA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12199-12201)caA>caG		low density lipoprotein receptor-related protein 1B							174	160	164					2																	141092044		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092044T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12201A>G	2.37:g.141092044T>C		TSP Lung(27;0.18)					p.Q4067Q	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13172	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4067					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12201A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198930	0.22121	.	.	ENSG00000168702	ENST00000437977	.	.	.	6.08	2.43	0.29744	.	.	.	.	.	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53457	-0.8436	4	.	.	.	.	9.9331	0.41534	0.0:0.2437:0.0:0.7563	.	.	.	.	R	299	.	.	K	-	2	0	LRP1B	140808514	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	0.228000	0.17814	0.542000	0.28846	0.482000	0.46254	AAA		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	33	0	0	0	1	0	22	33					C	141092044	T	C	141092044	2	2	20	1	0	0	0	0	0	0	0	1	8955	1838	64	4		4	LRP1B	2	141092044	Silent	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08	109463212	141092044	102107329	6	378										
NCKAP1	10787	broad.mit.edu	37	chr2	183832016	183832016	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	ccatttttgtatgaaaaattAttgtattcatcatctttcca	3	7	3	1	rs536354356		TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr2:183832016A>G	ENST00000361354.4	-	16	1928	c.1556T>C	c.(1555-1557)aTa>aCa	p.I519T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.I525T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	519					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGAAAAATTATTGTATTCAT	0.333													A|||	1	0.000199681	0	0	5008	,	,		18409	0.001		0	False		,,,				2504	0					ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1573-1575)aTa>aCa		NCK-associated protein 1							111	114	113					2																	183832016		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183832016A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1556T>C	2.37:g.183832016A>G	ENSP00000355348:p.Ile519Thr					NCKAP1_ENST00000361354.3_Missense_Mutation_p.I519T	p.I525T	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		17	2332	-			519					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1574T>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820161	0.50633	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.32515	1.45;1.45	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	L	0.28458	0.855	0.80722	D	1	B;B	0.30914	0.3;0.256	B;B	0.34242	0.178;0.112	T	0.05419	-1.0886	10	0.20046	T	0.44	-20.0477	15.4424	0.75195	1.0:0.0:0.0:0.0	.	519;525	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	519;525	ENSP00000355348:I519T;ENSP00000354251:I525T	ENSP00000354251:I525T	I	-	2	0	NCKAP1	183540261	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.287000	0.95975	2.039000	0.60335	0.482000	0.46254	ATA		0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		41	53	0	0	0	1	0	41	53					G	183832016	A	G	183832016	3	3	20	1	0	0	0	0	1	0	0	0	10221	449	16	4	1894	4	NCKAP1	2	183832016	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08	42739972	183832016	59367357	7	379										
P4HTM	54681	broad.mit.edu	37	chr3	49027893	49027894	+	Frame_Shift_Ins	INS	-	-	CA													0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	tggtgctgatggtgttcgtgINScacctgtacctgggtaacgt							TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr3:49027893_49027894insCA	ENST00000383729.4	+	1	575_576	c.204_205insCA	c.(205-207)cacfs	p.H69fs	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Frame_Shift_Ins_p.H69fs	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	69						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGGTGTTCGTGCACCTGTACCT	0.693																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(202-207)gtacctfs		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49027893_49027894insCA		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.205_206dupCA	3.37:g.49027894_49027895dupCA	ENSP00000373235:p.His69fs					P4HTM_ENST00000383729.4_Frame_Shift_Ins_p.P69fs	p.P69fs	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			1	572_573	+			69					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Frame_Shift_Ins	INS	ENST00000383729.4	37	c.204_205insCA	CCDS43089.1																																																																																				0.693	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		7	34						7	34	---	---	---	---	CA	49027894	-	CA	49027893	7	5	20	1	0	1	1	0	0	0	0	0	11360	1306	46	0	206	0	P4HTM	3	49027893	Frame_Shift_Ins	INS	-	TCGA-QR-A6H1-01A-11D-A35D-08		49027893	148994537	8	380										
EVC	2121	broad.mit.edu	37	chr4	5720980	5720980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	accttcgggttttagaaagaCgacactcaaaatctgctcaa	7	10	3	2			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr4:5720980C>T	ENST00000264956.6	+	2	364	c.180C>T	c.(178-180)gaC>gaT	p.D60D	EVC_ENST00000382674.2_Silent_p.D60D|EVC_ENST00000509451.1_Silent_p.D60D	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	60					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TTTAGAAAGACGACACTCAAA	0.522																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(178-180)gaC>gaT		Ellis van Creveld syndrome							145	153	151					4																	5720980		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5720980C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.180C>T	4.37:g.5720980C>T						EVC_ENST00000509451.1_Silent_p.D60D|EVC_ENST00000264956.6_Silent_p.D60D	p.D60D			P57679	EVC_HUMAN			2	364	+		Myeloproliferative disorder(84;0.117)	60						Silent	SNP	ENST00000264956.6	37	c.180C>T	CCDS3383.1																																																																																				0.522	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			44	70	0	0	0	1	0	44	70					T	5720980	C	T	5720980	2	4	20	1	0	0	0	0	0	0	0	1	5285	535	19	1		1	EVC	4	5720980	Silent	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		5720980	185433296	9	381										
PCDHA10	56139	broad.mit.edu	37	chr5	140236490	140236490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	atttagctctttggtcccacCcacgataagaaggaaatttt	7	9	1	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr5:140236490C>T	ENST00000307360.5	+	1	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCCCACCCACGATAAGA	0.358																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(856-858)cCc>cTc									71	71	71					5																	140236490		2196	4268	6464	SO:0001583	missense	56139							g.chr5:140236490C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.857C>T	5.37:g.140236490C>T	ENSP00000304234:p.Pro286Leu					PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.P286L	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	857	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.857C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0.352	-0.944440	0.02304	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61510	0.1;0.1	4.29	2.46	0.29980	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47563	0.1452	L	0.56396	1.775	0.09310	N	1	B;B;B	0.18741	0.019;0.03;0.0	B;B;B	0.21917	0.037;0.033;0.005	T	0.39187	-0.9626	9	0.30078	T	0.28	.	2.6923	0.05124	0.2877:0.394:0.2283:0.09	.	286;286;286	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	L	286	ENSP00000421030:P286L;ENSP00000304234:P286L	ENSP00000304234:P286L	P	+	2	0	PCDHA10	140216674	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	-2.324000	0.01116	0.534000	0.28695	0.561000	0.74099	CCC		0.358	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		25	4	0	0	0	1	0	25	4					T	140236490	C	T	140236490	3	4	20	1	0	0	0	0	1	0	0	0	11520	623	22	3	859	3	PCDHA10	5	140236490	Missense_Mutation	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		140236490	40678770	10	382										
C1GALT1	56913	broad.mit.edu	37	chr7	7283232	7283232	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	atgtatgagttagaatacctCgtttatcatcttcgtccata	6	8	2	2			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr7:7283232C>T	ENST00000223122.3	+	3	1028	c.966C>T	c.(964-966)ctC>ctT	p.L322L	C1GALT1_ENST00000436587.2_Silent_p.L322L			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	322					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGAATACCTCGTTTATCATC	0.353																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(964-966)ctC>ctT		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1							178	167	170					7																	7283232		2203	4300	6503	SO:0001819	synonymous_variant	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283232C>T	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.966C>T	7.37:g.7283232C>T						C1GALT1_ENST00000223122.2_Silent_p.L322L	p.L322L	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	4	1189	+			322					Q96QH4|Q9BTU1	Silent	SNP	ENST00000223122.3	37	c.966C>T	CCDS5355.1																																																																																				0.353	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		4	152	0	0	0	1	0	4	152					T	7283232	C	T	7283232	2	4	20	1	0	0	0	0	0	0	0	1	1952	871	31	2		2	C1GALT1	7	7283232	Silent	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		7283232	151855431	11	383										
ZAN	7455	broad.mit.edu	37	chr7	100363053	100363053	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	ctgccattcaggattctccgGcatgttctgctcagaccggt	10	13	4	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr7:100363053G>A	ENST00000348028.3	+	0	4511				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_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)				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)			GGATTCTCCGGCATGTTCTGC	0.617																																						ENST00000542585.1																			0				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)							53	56	55					7																	100363053		2129	4247	6376			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363053G>A	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.100363053G>A						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4494	+	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			.	.	.	.	.	.	.	.	.	.	G	16.18	3.051045	0.55218	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	3.99	-0.0472	0.13844	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.190116	0.26079	N	0.026473	D	0.83454	0.5258	L	0.49126	1.545	0.09310	N	1	B;B	0.22146	0.053;0.065	B;B	0.29598	0.063;0.104	T	0.70124	-0.4958	10	0.39692	T	0.17	.	0.9326	0.01338	0.1781:0.2071:0.4031:0.2117	.	1449;1449	F5H0T8;Q9Y493	.;ZAN_HUMAN	D	1449;1449;1449;26	ENSP00000445943:G1449D;ENSP00000445091:G1449D;ENSP00000444427:G1449D;ENSP00000441117:G26D	ENSP00000423579:G1449D	G	+	2	0	ZAN	100200989	0.000000	0.05858	0.026000	0.17262	0.631000	0.37964	0.301000	0.19174	0.199000	0.20427	0.462000	0.41574	GGC		0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	31	0	0	0	1	0	3	31					A	100363053	G	A	100363053	1	1	20	0	1	0	0	0	0	0	0	0	17510	1203	42	3		3	ZAN	7	100363053	RNA	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08	93079821	100363053	58775610	12	384										
IPPK	64768	broad.mit.edu	37	chr9	95414857	95414857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	taagttaaacacccttacctGgtctttcagattgtatcttt	5	9	3	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:95414857G>C	ENST00000287996.3	-	4	566	c.290C>G	c.(289-291)cCa>cGa	p.P97R		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	97					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACCCTTACCTGGTCTTTCAGA	0.313																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(289-291)cCa>cGa		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							84	84	84					9																	95414857		2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95414857G>C	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.290C>G	9.37:g.95414857G>C	ENSP00000287996:p.Pro97Arg						p.P97R	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			4	566	-			97					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.290C>G	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355046	0.61293	.	.	ENSG00000127080	ENST00000287996	T	0.36520	1.25	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66830	-0.5824	10	0.87932	D	0	-21.5322	16.6593	0.85237	0.0:0.0:1.0:0.0	.	97	Q9H8X2	IPPK_HUMAN	R	97	ENSP00000287996:P97R	ENSP00000287996:P97R	P	-	2	0	IPPK	94454678	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.088000	0.76901	2.306000	0.77630	0.195000	0.17529	CCA		0.313	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		40	61	0	0	0	1	0	40	61					C	95414857	G	C	95414857	3	2	20	1	0	0	0	0	1	0	0	0	7801	1348	47	5	1225	5	IPPK	9	95414857	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		95414857	45798574	13	385										
ZNF367	195828	broad.mit.edu	37	chr9	99180259	99180261	+	In_Frame_Del	DEL	GGC	GGC	-													0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	agtcgtggcagaagatgacgGgcggcggcggcggcggcggg							TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:99180259_99180261delGGC	ENST00000375256.4	-	1	350_352	c.54_56delGCC	c.(52-57)ccgccc>ccc	p.18_19PP>P		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	18	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAGATGACGggcggcggcggcg	0.749																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(52-57)ccc>cc		zinc finger protein 367				4,25,1685		2,0,0,5,15,835						-6.2	0.8			4	71,80,4193		15,1,40,6,67,2043	no	codingComplex	ZNF367	NM_153695.3		17,1,40,11,82,2878	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4761,1.6919,2.9713				75,105,5878				SO:0001651	inframe_deletion	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180259_99180261delGGC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.54_56delGCC	9.37:g.99180268_99180270delGGC	ENSP00000364405:p.Pro19del						p.PP18del	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			1	350_352	-		Acute lymphoblastic leukemia(62;0.0167)	18			Pro-rich.		Q6Q7C8	In_Frame_Del	DEL	ENST00000375256.4	37	c.54_56delGCC	CCDS6718.1																																																																																				0.749	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			2	4						2	4	---	---	---	---	-	99180261	GGC	-	99180259	7	5	20	1	0	1	0	1	0	0	0	0	17868	1232	43	0	1016	0	ZNF367	9	99180259	In_Frame_Del	DEL	GGC	TCGA-QR-A6H1-01A-11D-A35D-08	3765402	99180259	42033172	14	386										
ZNF462	58499	broad.mit.edu	37	chr9	109688235	109688235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	agcctctaggaagctcgccaAtgactttcctctagatttgt	8	11	2	2			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr9:109688235A>G	ENST00000277225.5	+	3	2331	c.2042A>G	c.(2041-2043)aAt>aGt	p.N681S	ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	681					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGCTCGCCAATGACTTTCCT	0.448																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2041-2043)aAt>aGt		zinc finger protein 462							186	191	190					9																	109688235		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688235A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2042A>G	9.37:g.109688235A>G	ENSP00000277225:p.Asn681Ser					ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S	p.N681S			Q96JM2	ZN462_HUMAN			3	2331	+			681					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2042A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	8.970	0.972659	0.18736	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07688	3.17;3.61	5.87	0.839	0.18907	.	0.132003	0.64402	N	0.000002	T	0.05502	0.0145	L	0.29908	0.895	0.80722	D	1	B;B	0.26081	0.141;0.001	B;B	0.22753	0.041;0.003	T	0.45071	-0.9286	9	.	.	.	.	8.9195	0.35604	0.723:0.0:0.277:0.0	.	681;681	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	681	ENSP00000277225:N681S;ENSP00000414570:N681S	.	N	+	2	0	ZNF462	108728056	1.000000	0.71417	0.957000	0.39632	0.928000	0.56348	4.956000	0.63645	-0.088000	0.12506	-0.256000	0.11100	AAT		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		18	145	0	0	0	1	0	18	145					G	109688235	A	G	109688235	3	3	20	1	0	0	0	0	1	0	0	0	17923	101	4	4	2048	4	ZNF462	9	109688235	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08	10507976	109688235	31525196	15	387										
COX15	1355	broad.mit.edu	37	chr10	101473220	101473220	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	cactgattttaaaagtaaagTtgaataagacagggccctat	8	6	0	3			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr10:101473220T>C	ENST00000016171.5	-	0	2356				COX15_ENST00000497381.1_5'Flank|CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.N373S			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)						cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		aaaagtaaagttgaataagac	0.358																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(1117-1119)aAc>aGc		cytochrome c oxidase assembly homolog 15 (yeast)							74	71	72					10																	101473220		2203	4300	6503	SO:0001628	intergenic_variant	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101473220T>C	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893		10.37:g.101473220T>C						CUTC_ENST00000493385.1_Intron	p.N373S	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	9	1168	-		Colorectal(252;0.234)	0					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.1118A>G	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	T	1.000	-0.691161	0.03303	.	.	ENSG00000014919	ENST00000370483	.	.	.	2.13	-0.445	0.12242	.	.	.	.	.	T	0.17534	0.0421	.	.	.	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.23440	-1.0188	7	0.22706	T	0.39	.	2.5153	0.04667	0.0:0.1791:0.2915:0.5294	.	373	Q7KZN9-2	.	S	373	.	ENSP00000359514:N373S	N	-	2	0	COX15	101463210	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-0.402000	0.07223	-0.112000	0.11979	0.459000	0.35465	AAC		0.358	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		10	37	0	0	0	1	0	10	37					C	101473220	T	C	101473220	1	2	20	0	1	0	0	0	0	0	0	0	3764	1725	60	4		4	COX15	10	101473220	IGR	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08		101473220	34061527	16	388										
AHNAK	79026	broad.mit.edu	37	chr11	62295869	62295869	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	ccttgggcacagacacatccAtatcccctttgactttgggg	9	13	0	2			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr11:62295869A>T	ENST00000378024.4	-	5	6294	c.6020T>A	c.(6019-6021)aTg>aAg	p.M2007K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2007					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGACACATCCATATCCCCTTT	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6019-6021)aTg>aAg		AHNAK nucleoprotein							347	349	348					11																	62295869		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295869A>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6020T>A	11.37:g.62295869A>T	ENSP00000367263:p.Met2007Lys					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M2007K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6294	-		Melanoma(852;0.155)	2007					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6020T>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	8.776	0.927168	0.18056	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00940	5.52	3.45	2.28	0.28536	.	0.799354	0.10222	N	0.700743	T	0.01421	0.0046	L	0.54323	1.7	0.09310	N	1	B	0.32425	0.371	B	0.31869	0.137	T	0.46205	-0.9208	10	0.87932	D	0	.	7.2991	0.26409	0.8034:0.0:0.0:0.1966	.	2007	Q09666	AHNK_HUMAN	K	96;2007	ENSP00000367263:M2007K	ENSP00000244934:M96K	M	-	2	0	AHNAK	62052445	0.000000	0.05858	0.001000	0.08648	0.663000	0.39108	0.283000	0.18846	0.232000	0.21100	0.248000	0.18094	ATG		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	353	0	0	0	1	0	5	353					T	62295869	A	T	62295869	3	4	20	1	0	0	0	0	1	0	0	0	414	217	8	5	11772	5	AHNAK	11	62295869	Missense_Mutation	SNP	A	TCGA-QR-A6H1-01A-11D-A35D-08		62295869	72710647	17	389										
RFC5	5985	broad.mit.edu	37	chr12	118463630	118463630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	cgtagggctctgaacattttGcaggtatggtctcaagcaaa	11	8	2	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr12:118463630G>T	ENST00000454402.2	+	7	778	c.660G>T	c.(658-660)ttG>ttT	p.L220F	RFC5_ENST00000392542.2_Missense_Mutation_p.L199F|RFC5_ENST00000229043.3_Missense_Mutation_p.L135F	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	220					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAACATTTTGCAGGTATGGT	0.418																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(595-597)ttG>ttT		replication factor C (activator 1) 5, 36.5kDa							113	108	109					12																	118463630		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118463630G>T		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.660G>T	12.37:g.118463630G>T	ENSP00000408295:p.Leu220Phe					RFC5_ENST00000229043.3_Missense_Mutation_p.L135F|RFC5_ENST00000454402.2_Missense_Mutation_p.L220F	p.L199F	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			8	1130	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		220					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.597G>T	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708144	0.68615	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.53857	0.63;0.6;0.89	5.7	2.89	0.33648	.	0.000000	0.64402	D	0.000001	T	0.79557	0.4466	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76113	-0.3078	10	0.87932	D	0	-5.1354	4.454	0.11635	0.2971:0.0:0.5563:0.1466	.	199;234;220	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	F	135;220;199	ENSP00000229043:L135F;ENSP00000408295:L220F;ENSP00000376325:L199F	ENSP00000229043:L135F	L	+	3	2	RFC5	116948013	1.000000	0.71417	0.930000	0.37139	0.993000	0.82548	3.010000	0.49559	0.335000	0.23614	-0.157000	0.13467	TTG		0.418	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		4	60	1	0	2.56e-06	1	2.73655e-06	4	60					T	118463630	G	T	118463630	3	4	20	1	0	0	0	0	1	0	0	0	13248	1310	46	5	692	5	RFC5	12	118463630	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		118463630	15388265	18	390										
ZNF629	23361	broad.mit.edu	37	chr16	30793592	30793592	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	gaaagagaaagggcttttcgTtgccgtgggtgagctgatgc	16	6	0	3			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr16:30793592T>C	ENST00000262525.4	-	3	2264	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGCTTTTCGTTGCCGTGGGT	0.572																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2056-2058)aAc>aGc		zinc finger protein 629							27	28	28					16																	30793592		2020	4177	6197	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793592T>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2057A>G	16.37:g.30793592T>C	ENSP00000262525:p.Asn686Ser						p.N686S	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2264	-			686					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2057A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003778	0.19199	.	.	ENSG00000102870	ENST00000262525	T	0.60040	0.22	5.18	-4.49	0.03504	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.344488	0.20762	N	0.086147	T	0.32346	0.0826	N	0.11724	0.165	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.08452	-1.0721	10	0.66056	D	0.02	-16.9187	9.8371	0.40975	0.0:0.5331:0.1243:0.3426	.	686	Q9UEG4	ZN629_HUMAN	S	686	ENSP00000262525:N686S	ENSP00000262525:N686S	N	-	2	0	ZNF629	30701093	0.000000	0.05858	0.010000	0.14722	0.981000	0.71138	-0.375000	0.07475	-1.170000	0.02769	0.459000	0.35465	AAC		0.572	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	14	0	0	0	1	0	3	14					C	30793592	T	C	30793592	3	2	20	1	0	0	0	0	1	0	0	0	18050	1725	60	4	556	4	ZNF629	16	30793592	Missense_Mutation	SNP	T	TCGA-QR-A6H1-01A-11D-A35D-08		30793592	59561161	19	391										
KRT14	3861	broad.mit.edu	37	chr17	39740077	39740077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	catcttctcatactggtcacGcatctcgttcagaatgcggc	8	13	5	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr17:39740077G>A	ENST00000167586.6	-	4	948	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	288	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TACTGGTCACGCATCTCGTTC	0.557																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(862-864)Cgt>Tgt		keratin 14							202	171	182					17																	39740077		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740077G>A	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.862C>T	17.37:g.39740077G>A	ENSP00000167586:p.Arg288Cys						p.R288C	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	948	-		Breast(137;0.000307)	288			Coil 2.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.862C>T	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725912	0.69074	.	.	ENSG00000186847	ENST00000167586	D	0.93426	-3.22	5.11	5.11	0.69529	Prefoldin (1);Filament (1);	0.000000	0.51477	D	0.000089	D	0.97511	0.9185	H	0.99682	4.7	0.58432	D	0.999999	D	0.56746	0.977	P	0.53809	0.735	D	0.97915	1.0311	10	0.87932	D	0	.	11.0536	0.47905	0.0:0.138:0.7192:0.1429	.	288	P02533	K1C14_HUMAN	C	288	ENSP00000167586:R288C	ENSP00000167586:R288C	R	-	1	0	KRT14	36993603	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	0.994000	0.29693	2.523000	0.85059	0.655000	0.94253	CGT		0.557	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		4	123	0	0	0	1	0	4	123					A	39740077	G	A	39740077	3	1	20	1	0	0	0	0	1	0	0	0	8451	1087	38	1	576	1	KRT14	17	39740077	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		39740077	41455133	20	392										
MAN2B1	4125	broad.mit.edu	37	chr19	12758270	12758271	+	Frame_Shift_Ins	INS	-	-	T													0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	tctcaccctcaagttcaaggINStaacgggggcgctcaggtta							TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:12758270_12758271insT	ENST00000456935.2	-	22	2846_2847	c.2806_2807insA	c.(2806-2808)accfs	p.T936fs	CTD-2192J16.22_ENST00000597692.1_Frame_Shift_Ins_p.Y122fs|MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.T935fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	936					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAAGTTCAAGGTAACGGGGGCG	0.579																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2806-2808)cttfs		mannosidase, alpha, class 2B, member 1																																				SO:0001589	frameshift_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12758270_12758271insT		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2807dupA	19.37:g.12758271_12758271dupT	ENSP00000395473:p.Thr936fs					MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.L935fs|CTD-2192J16.22_ENST00000597692.1_Frame_Shift_Ins_p.S122fs	p.L936fs	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			22	2846_2847	-			936					G5E928|O15330|Q16680|Q93094|Q9BW13	Frame_Shift_Ins	INS	ENST00000456935.2	37	c.2806_2807insA	CCDS32919.1																																																																																				0.579	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			52	80						52	80	---	---	---	---	T	12758271	-	T	12758270	7	5	20	1	0	1	1	0	0	0	0	0	9216	1261	44	0	240	0	MAN2B1	19	12758270	Frame_Shift_Ins	INS	-	TCGA-QR-A6H1-01A-11D-A35D-08		12758270	46370713	21	393										
CC2D1A	54862	broad.mit.edu	37	chr19	14031583	14031583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	cccagcagcagctggccttcCtagagggccgcaagaagcag	13	14	0	2			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:14031583C>A	ENST00000318003.7	+	14	1730	c.1489C>A	c.(1489-1491)Cta>Ata	p.L497I	CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	497					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGGCCTTCCTAGAGGGCCG	0.647																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1489-1491)Cta>Ata		coiled-coil and C2 domain containing 1A							27	32	30					19																	14031583		1912	4127	6039	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14031583C>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1489C>A	19.37:g.14031583C>A	ENSP00000313601:p.Leu497Ile					CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I	p.L497I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		14	1730	+			497					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1489C>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057218	0.76074	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.59638	0.25	5.18	4.14	0.48551	Domain of unknown function DM14 (1);	0.000000	0.64402	D	0.000003	T	0.77519	0.4142	M	0.86502	2.82	0.52501	D	0.999958	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.997;0.997	T	0.81473	-0.0917	10	0.72032	D	0.01	-17.231	12.9732	0.58524	0.0:0.9184:0.0:0.0816	.	119;497;497	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	I	497;120;251	ENSP00000313601:L497I	ENSP00000254346:L120I	L	+	1	2	CC2D1A	13892583	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.610000	0.36869	2.420000	0.82092	0.555000	0.69702	CTA		0.647	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		12	11	1	0	6.40141e-05	1	6.61479e-05	12	11					A	14031583	C	A	14031583	3	1	20	1	0	0	0	0	1	0	0	0	2726	680	24	5	1543	5	CC2D1A	19	14031583	Missense_Mutation	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08	1273313	14031583	45097400	22	394										
FCAR	2204	broad.mit.edu	37	chr19	55401054	55401054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	cacgacgcagaacttgatccGcatggccgtggcaggactgg	14	12	0	2	rs373544789		TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr19:55401054G>A	ENST00000355524.3	+	5	699	c.689G>A	c.(688-690)cGc>cAc	p.R230H	FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000391726.3_Missense_Mutation_p.R122H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	230					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R230H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AACTTGATCCGCATGGCCGTG	0.532																																						ENST00000355524.3																			1	Substitution - Missense(1)	p.R230H(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(688-690)cGc>cAc		Fc fragment of IgA, receptor for		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG	0,4406		0,0,2203	331	324	326		689,623,401,653,365,579,362,587	1.6	0	19		326	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,coding-synonymous,missense,missense	FCAR	NM_002000.2,NM_133269.2,NM_133271.2,NM_133272.2,NM_133273.2,NM_133274.2,NM_133277.2,NM_133278.2	29,29,29,29,29,,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging,probably-damaging	230/288,208/266,134/192,218/276,122/180,193/210,121/179,196/254	55401054	2,13004	2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401054G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.689G>A	19.37:g.55401054G>A	ENSP00000347714:p.Arg230His					FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H|FCAR_ENST00000391726.3_Missense_Mutation_p.R122H	p.R230H	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	699	+			230					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.689G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457348	0.43634	0.0	2.33E-4	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.07021	3.23;6.57;5.7;4.23;6.17;6.46;5.58	3.9	1.58	0.23477	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	1	D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;0.839;1.0;1.0;0.906	D;D;D;B;D;D;B	0.87578	0.998;0.996;0.96;0.265;0.998;0.96;0.442	T	0.05886	-1.0858	8	0.72032	D	0.01	.	5.5752	0.17218	0.2885:0.0:0.7115:0.0	.	121;196;122;218;208;134;230	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	H	122;230;208;134;121;218;196	ENSP00000375606:R122H;ENSP00000347714:R230H;ENSP00000375605:R208H;ENSP00000338257:R134H;ENSP00000338058:R121H;ENSP00000352218:R218H;ENSP00000375604:R196H	ENSP00000338257:R134H	R	+	2	0	FCAR	60092866	0.033000	0.19621	0.002000	0.10522	0.095000	0.18619	0.647000	0.24812	0.332000	0.23536	0.557000	0.71058	CGC		0.532	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		5	355	0	0	0	1	0	5	355					A	55401054	G	A	55401054	3	1	20	1	0	0	0	0	1	0	0	0	5773	1087	38	1	778	1	FCAR	19	55401054	Missense_Mutation	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08	41369471	55401054	3727929	23	395										
FAM113A	64773	broad.mit.edu	37	chr20	2819277	2819277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	acccccagtgatacgttcccCgaggggcatcgccatgttcc	10	16	0	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chr20:2819277C>T	ENST00000360652.2	-	5	1061	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.G136R|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	187																	ATACGTTCCCCGAGGGGCATC	0.577																																						ENST00000360652.2																			0											c.(559-561)Ggg>Agg		PC-esterase domain containing 1A							119	103	108					20																	2819277		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2819277C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.559G>A	20.37:g.2819277C>T	ENSP00000353868:p.Gly187Arg					PCED1A_ENST00000356872.3_Missense_Mutation_p.G136R	p.G187R	NM_022760.3	NP_073597.2					5	1061	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.559G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652387	0.67472	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.7	3.7	0.42460	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.969;0.987	T	0.29243	-1.0018	10	0.87932	D	0	-10.7896	11.1451	0.48426	0.0:1.0:0.0:0.0	.	136;187	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	R	136;187;136;187	ENSP00000349334:G136R;ENSP00000353868:G187R;ENSP00000388935:G136R;ENSP00000401711:G187R	ENSP00000349334:G136R	G	-	1	0	FAM113A	2767277	1.000000	0.71417	0.959000	0.39883	0.836000	0.47400	5.890000	0.69774	2.101000	0.63845	0.462000	0.41574	GGG		0.577	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		27	45	0	0	0	1	0	27	45					T	2819277	C	T	2819277	3	4	20	1	0	0	0	0	1	0	0	0	5401	652	23	2	821	2	FAM113A	20	2819277	Missense_Mutation	SNP	C	TCGA-QR-A6H1-01A-11D-A35D-08		2819277	60206243	24	396										
PLP1	5354	broad.mit.edu	37	chrX	103040511	103040511	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.531944444444444	0	0.591049382716049	1	1	0	ttccccttcttcttccccagGcttgttagagtgctgtgcaa	8	13	2	1			TCGA-QR-A6H1-01A-11D-A35D-08	TCGA-QR-A6H1-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48af468f-3639-463b-ac97-9ce3032a965e	a3f547ad-3e04-4448-93c7-458be8e87b22	g.chrX:103040511G>A	ENST00000303958.2	+	2	151	c.5G>A	c.(4-6)gGc>gAc	p.G2D	PLP1_ENST00000361621.2_Splice_Site_p.G2D|PLP1_ENST00000418604.1_Splice_Site_p.G2D	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	2					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCTTCCCCAGGCTTGTTAGAG	0.562																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.e3-1		proteolipid protein 1							170	164	166					X																	103040511		2203	4300	6503	SO:0001630	splice_region_variant	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040511G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.5-1G>A	X.37:g.103040511G>A						PLP1_ENST00000303958.2_Splice_Site_p.G2_splice|PLP1_ENST00000361621.2_Splice_Site_p.G2_splice	p.G2_splice	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			3	285	+			2					P04400|P06905|Q502Y1|Q6FHZ6	Splice_Site	SNP	ENST00000303958.2	37	c.4_splice	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655077	0.88056	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	D	0.98487	1.0608	9	.	.	.	.	15.5899	0.76521	0.0:0.0:1.0:0.0	.	2;2	P60201;P60201-2	MYPR_HUMAN;.	D	2	ENSP00000403335:G2D;ENSP00000399913:G2D;ENSP00000409802:G2D;ENSP00000413931:G2D;ENSP00000393391:G2D;ENSP00000405750:G2D;ENSP00000391853:G2D;ENSP00000305152:G2D;ENSP00000354860:G2D	.	G	+	2	0	PLP1	102927167	1.000000	0.71417	0.973000	0.42090	0.953000	0.61014	9.410000	0.97335	2.275000	0.75901	0.600000	0.82982	GGC		0.562	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2		Missense_Mutation	65	19	0	0	0	1	0	65	19					A	103040511	G	A	103040511	5	1	20	1	0	0	0	0	0	0	1	0	12104	1217	42	3	11	3	PLP1	23	103040511	Splice_Site	SNP	G	TCGA-QR-A6H1-01A-11D-A35D-08		103040511	52230049	25	397										
WDR52	55779	broad.mit.edu	37	chr3	113145101	113145101	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	ctcctctgcttcttccacagCtggagcaggggtttgctgag	12	12	2	1			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr3:113145101C>A	ENST00000295868.2	-	4	439	c.277G>T	c.(277-279)Gct>Tct	p.A93S	WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.A93S	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TCTTCCACAGCTGGAGCAGGG	0.398																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(277-279)Gct>Tct		WD repeat domain 52							113	116	115					3																	113145101		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113145101C>A																												ENST00000295868.2:c.277G>T	3.37:g.113145101C>A	ENSP00000295868:p.Ala93Ser					WDR52_ENST00000295868.2_Missense_Mutation_p.A93S|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	p.A93S	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			4	343	-			93						Missense_Mutation	SNP	ENST00000295868.2	37	c.277G>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	9.619	1.133221	0.21041	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.44083	2.85;0.93	5.24	-0.59	0.11679	.	.	.	.	.	T	0.27384	0.0672	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.22941	-1.0202	9	0.20046	T	0.44	.	12.8912	0.58071	0.1111:0.3345:0.5545:0.0	.	93	Q96MT7	WDR52_HUMAN	S	93	ENSP00000377428:A93S;ENSP00000295868:A93S	ENSP00000295868:A93S	A	-	1	0	WDR52	114627791	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.164000	0.09983	-0.108000	0.12066	-0.188000	0.12872	GCT		0.398	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			4	84	1	0	0.00909568	1	0.00952881	4	84					A	113145101	C	A	113145101	3	1	21	1	0	0	0	0	1	0	0	0	17301	797	28	5	5430	5	WDR52	3	113145101	Missense_Mutation	SNP	C	TCGA-QR-A6H2-01A-11D-A35D-08		113145101	84877329	1	398										
MEPE	56955	broad.mit.edu	37	chr4	88767438	88767438	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	cagaaaatatcattatgtacCccacagacaaaataattcta	3	9	2	2			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr4:88767438C>A	ENST00000424957.3	+	4	1491	c.1418C>A	c.(1417-1419)cCc>cAc	p.P473H	MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H|MEPE_ENST00000497649.2_Missense_Mutation_p.P449H|MEPE_ENST00000395102.4_Missense_Mutation_p.P504H	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	473					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CATTATGTACCCCACAGACAA	0.413																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1345-1347)cCc>cAc		matrix extracellular phosphoglycoprotein							72	72	72					4																	88767438		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767438C>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1418C>A	4.37:g.88767438C>A	ENSP00000416984:p.Pro473His					MEPE_ENST00000395102.4_Missense_Mutation_p.P504H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.P473H|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H	p.P449H			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1724	+		Hepatocellular(203;0.114)	473					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1346C>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	C	9.749	1.167077	0.21621	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.89;0.88	4.28	2.36	0.29203	.	0.554981	0.15099	N	0.280660	T	0.33673	0.0871	L	0.56396	1.775	0.09310	N	1	P	0.39883	0.693	B	0.32393	0.145	T	0.19386	-1.0307	10	0.52906	T	0.07	0.0636	9.0641	0.36453	0.393:0.607:0.0:0.0	.	473	Q9NQ76	MEPE_HUMAN	H	473;504;449;360;473	ENSP00000416984:P473H;ENSP00000378534:P504H;ENSP00000422747:P449H;ENSP00000443491:P360H;ENSP00000354341:P473H	ENSP00000354341:P473H	P	+	2	0	MEPE	88986462	0.000000	0.05858	0.060000	0.19600	0.018000	0.09664	0.169000	0.16641	0.940000	0.37473	0.563000	0.77884	CCC		0.413	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			6	45	1	0	3.59834e-05	1	3.95817e-05	6	45					A	88767438	C	A	88767438	3	1	21	1	0	0	0	0	1	0	0	0	9478	623	22	5	1428	5	MEPE	4	88767438	Missense_Mutation	SNP	C	TCGA-QR-A6H2-01A-11D-A35D-08		88767438	102386838	2	399										
ZFPM2	23414	broad.mit.edu	37	chr8	106815687	106815687	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	atattgccggctatgtgataTccagttcaacaacctttcaa	6	10	2	1			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr8:106815687T>C	ENST00000407775.2	+	8	3627	c.3377T>C	c.(3376-3378)aTc>aCc	p.I1126T	ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1126					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTATGTGATATCCAGTTCAAC	0.418																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(3376-3378)aTc>aCc		zinc finger protein, FOG family member 2							39	39	39					8																	106815687		1884	4107	5991	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815687T>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3377T>C	8.37:g.106815687T>C	ENSP00000384179:p.Ile1126Thr					ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000509144.2_RNA	p.I1126T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3627	+			1126					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3377T>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977155	0.53720	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61992	-0.6948	10	0.51188	T	0.08	.	16.1671	0.81777	0.0:0.0:0.0:1.0	.	1126	Q8WW38	FOG2_HUMAN	T	1126;994;994;857	ENSP00000384179:I1126T;ENSP00000430757:I994T;ENSP00000428720:I994T;ENSP00000367733:I857T	ENSP00000367733:I857T	I	+	2	0	ZFPM2	106884863	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.224000	0.72417	0.528000	0.53228	ATC		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	19	0	0	0	1	0	3	19					C	106815687	T	C	106815687	3	2	21	1	0	0	0	0	1	0	0	0	17655	1435	50	4	3407	4	ZFPM2	8	106815687	Missense_Mutation	SNP	T	TCGA-QR-A6H2-01A-11D-A35D-08		106815687	39548335	3	400										
FAM188A	80013	broad.mit.edu	37	chr10	15883458	15883458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	ttggcaactagactctgcagGactcccagaaatactagcag	9	11	1	2			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr10:15883458G>A	ENST00000277632.3	-	4	596	c.376C>T	c.(376-378)Cct>Tct	p.P126S	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	126					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GACTCTGCAGGACTCCCAGAA	0.348																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(376-378)Cct>Tct		family with sequence similarity 188, member A							89	85	87					10																	15883458		2203	4300	6503	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15883458G>A	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"caspase recruitment domain containing pro-apoptotic protein", "CARD-containing protein"	611649	"chromosome 10 open reading frame 97"	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.376C>T	10.37:g.15883458G>A	ENSP00000277632:p.Pro126Ser					FAM188A_ENST00000477891.1_5'UTR	p.P126S	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			4	596	-			126					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.376C>T	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552885	0.45487	.	.	ENSG00000148481	ENST00000277632	T	0.29655	1.56	5.5	5.5	0.81552	.	0.325020	0.38381	N	0.001720	T	0.31071	0.0785	L	0.47716	1.5	0.80722	D	1	B	0.30851	0.297	B	0.32211	0.142	T	0.05037	-1.0910	10	0.16896	T	0.51	-7.5283	19.7538	0.96281	0.0:0.0:1.0:0.0	.	126	Q9H8M7	F188A_HUMAN	S	126	ENSP00000277632:P126S	ENSP00000277632:P126S	P	-	1	0	FAM188A	15923464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.739000	0.93911	0.561000	0.74099	CCT		0.348	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		5	36	0	0	0	1	0	5	36					A	15883458	G	A	15883458	3	1	21	1	0	0	0	0	1	0	0	0	5514	1174	41	3	1009	3	FAM188A	10	15883458	Missense_Mutation	SNP	G	TCGA-QR-A6H2-01A-11D-A35D-08		15883458	119651289	4	401										
MORN4	118812	broad.mit.edu	37	chr10	99376082	99376082	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	ccgctgaacaatggcagaacActtctcacgtcgcagcagct	9	14	1	2			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr10:99376082A>C	ENST00000307450.6	-	5	542	c.379T>G	c.(379-381)Tgt>Ggt	p.C127G	PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000335628.3_Missense_Mutation_p.C185G|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	127										large_intestine(1)|lung(1)|stomach(2)	4						ATGGCAGAACACTTCTCACGT	0.542																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(553-555)Tgt>Ggt		MORN repeat containing 4							63	60	61					10																	99376082		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376082A>C	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"44050 protein"		"chromosome 10 open reading frame 83"	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.379T>G	10.37:g.99376082A>C	ENSP00000307636:p.Cys127Gly					PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000307450.6_Missense_Mutation_p.C127G	p.C185G			Q8NDC4	MORN4_HUMAN			4	552	-			127					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.553T>G	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678305	0.47886	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.58652	0.71;0.32	5.03	5.03	0.67393	.	0.048373	0.85682	D	0.000000	T	0.69833	0.3155	M	0.63843	1.955	0.80722	D	1	D;P	0.71674	0.998;0.601	D;B	0.64237	0.923;0.08	T	0.67643	-0.5618	10	0.28530	T	0.3	-13.2655	14.9245	0.70866	1.0:0.0:0.0:0.0	.	185;127	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	G	127;127;185	ENSP00000307636:C127G;ENSP00000335498:C185G	ENSP00000307636:C127G	C	-	1	0	MORN4	99366072	1.000000	0.71417	0.996000	0.52242	0.746000	0.42486	3.067000	0.50010	2.119000	0.64992	0.459000	0.35465	TGT		0.542	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		9	17	0	0	0	1	0	9	17					C	99376082	A	C	99376082	3	2	21	1	0	0	0	0	1	0	0	0	9710	159	6	5	65	5	MORN4	10	99376082	Missense_Mutation	SNP	A	TCGA-QR-A6H2-01A-11D-A35D-08	83492624	99376082	36158665	5	402										
CUL4A	8451	broad.mit.edu	37	chr13	113888241	113888241	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	attcatttgaactgaaatttTtggaagagactaattgctta	7	4	1	3			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr13:113888241T>C	ENST00000375440.4	+	7	790	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	CUL4A_ENST00000451881.1_Silent_p.L136L|CUL4A_ENST00000375441.3_Silent_p.L136L|CUL4A_ENST00000326335.4_Silent_p.L136L	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	236					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			ACTGAAATTTTTGGAAGAGAC	0.403																																						ENST00000451881.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17						c.(406-408)Ttg>Ctg		cullin 4A							123	118	120					13																	113888241		2203	4300	6503	SO:0001819	synonymous_variant	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113888241T>C	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.706T>C	13.37:g.113888241T>C						CUL4A_ENST00000375440.4_Silent_p.L236L|CUL4A_ENST00000375441.3_Silent_p.L136L|CUL4A_ENST00000326335.4_Silent_p.L136L	p.L136L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		7	655	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	236					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	c.406T>C	CCDS41908.1																																																																																				0.403	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589		5	46	0	0	0	1	0	5	46					C	113888241	T	C	113888241	2	2	21	1	0	0	0	0	0	0	0	1	4057	1838	64	4		4	CUL4A	13	113888241	Silent	SNP	T	TCGA-QR-A6H2-01A-11D-A35D-08		113888241	1281637	6	403										
MAP4K5	11183	broad.mit.edu	37	chr14	50904710	50904710	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	gctataagattgtgagagtaGagctgaaaggtttttcctat	11	4	0	4	rs540339833		TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr14:50904710G>C	ENST00000013125.4	-	24	2043	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	575	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGTGAGAGTAGAGCTGAAAGG	0.348																																						ENST00000013125.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1723-1725)ctC>ctG		mitogen-activated protein kinase kinase kinase kinase 5							97	90	92					14																	50904710		1801	4064	5865	SO:0001819	synonymous_variant	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50904710G>C	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1725C>G	14.37:g.50904710G>C							p.L575L	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN			24	2043	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		575			CNH.		Q8IYF6	Silent	SNP	ENST00000013125.4	37	c.1725C>G																																																																																					0.348	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		3	39	0	0	0	1	0	3	39					C	50904710	G	C	50904710	2	2	21	1	0	0	0	0	0	0	0	1	9263	929	33	5		5	MAP4K5	14	50904710	Silent	SNP	G	TCGA-QR-A6H2-01A-11D-A35D-08		50904710	56444830	7	404										
AGBL1	123624	broad.mit.edu	37	chr15	86810268	86810268	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	tttacggttcttctccaaatTtgagtcaggaaatcttcgca	7	9	4	1			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr15:86810268T>G	ENST00000441037.2	+	12	1756	c.1661T>G	c.(1660-1662)tTt>tGt	p.F554C	AGBL1_ENST00000389298.3_Missense_Mutation_p.F285C|AGBL1_ENST00000421325.2_Missense_Mutation_p.F554C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	554					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTCCAAATTTGAGTCAGGA	0.408																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(1660-1662)tTt>tGt		ATP/GTP binding protein-like 1							89	81	83					15																	86810268		1910	4116	6026	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86810268T>G	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1661T>G	15.37:g.86810268T>G	ENSP00000413001:p.Phe554Cys					AGBL1_ENST00000389298.3_Missense_Mutation_p.F285C|AGBL1_ENST00000421325.2_Missense_Mutation_p.F554C	p.F554C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			12	1756	+			554					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1661T>G	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481694	0.63849	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.35421	1.31;1.31	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	H	0.97291	3.975	0.47407	D	0.99941	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.83584	0.0119	10	0.87932	D	0	-15.5317	14.4553	0.67413	0.0:0.0:0.0:1.0	.	253;285;554	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	C	583;554;285	ENSP00000397173:F554C;ENSP00000373949:F285C	ENSP00000373949:F285C	F	+	2	0	AGBL1	84611272	1.000000	0.71417	0.989000	0.46669	0.528000	0.34623	6.754000	0.74909	2.004000	0.58718	0.533000	0.62120	TTT		0.408	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		4	1	0	0	0	1	0	4	1					G	86810268	T	G	86810268	3	3	21	1	0	0	0	0	1	0	0	0	375	1841	64	5	1703	5	AGBL1	15	86810268	Missense_Mutation	SNP	T	TCGA-QR-A6H2-01A-11D-A35D-08		86810268	15721124	8	405										
ZNF519	162655	broad.mit.edu	37	chr18	14106297	14106297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	tactttcccagtttttccatAagcatatattttcaaggcca	4	10	1	0			TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr18:14106297A>G	ENST00000590202.1	-	3	394	c.242T>C	c.(241-243)tTa>tCa	p.L81S	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	81					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTTTTTCCATAAGCATATATT	0.353																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(241-243)tTa>tCa		zinc finger protein 519							70	69	70					18																	14106297		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14106297A>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"Zinc fingers, C2H2-type", "-"	30574	protein-coding gene	gene with protein product	"similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.242T>C	18.37:g.14106297A>G	ENSP00000464872:p.Leu81Ser					ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.L81S	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	394	-			81						Missense_Mutation	SNP	ENST00000590202.1	37	c.242T>C	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	A	2.389	-0.340312	0.05243	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.328	-0.656	0.11436	.	.	.	.	.	T	0.33294	0.0858	L	0.60455	1.87	0.09310	N	1	B	0.20052	0.041	B	0.14578	0.011	T	0.28870	-1.0030	8	0.54805	T	0.06	.	3.3913	0.07290	0.6526:0.0:0.0:0.3474	.	81	Q8TB69	ZN519_HUMAN	S	81	.	ENSP00000307908:L81S	L	-	2	0	ZNF519	14096297	0.001000	0.12720	0.000000	0.03702	0.417000	0.31264	0.336000	0.19823	-0.921000	0.03794	0.076000	0.15429	TTA		0.353	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		17	19	0	0	0	1	0	17	19					G	14106297	A	G	14106297	3	3	21	1	0	0	0	0	1	0	0	0	17961	372	13	4	1384	4	ZNF519	18	14106297	Missense_Mutation	SNP	A	TCGA-QR-A6H2-01A-11D-A35D-08		14106297	63970951	9	406										
MED25	81857	broad.mit.edu	37	chr19	50338834	50338834	+	Frame_Shift_Del	DEL	A	A	-													0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	agggctggggcccattctggAggaccaagccaggccctcac							TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chr19:50338834delA	ENST00000312865.6	+	15	1771	c.1718delA	c.(1717-1719)gagfs	p.E573fs	MED25_ENST00000538643.1_Frame_Shift_Del_p.E360fs	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	573	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCCATTCTGGAGGACCAAGCC	0.667																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1717-1719)ggfs		mediator complex subunit 25							8	9	9					19																	50338834		2168	4258	6426	SO:0001589	frameshift_variant	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50338834delA	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1718delA	19.37:g.50338834delA	ENSP00000326767:p.Glu573fs					MED25_ENST00000538643.1_Frame_Shift_Del_p.E360fs	p.E573fs	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	15	1771	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	573			Interaction with RARA.|Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Frame_Shift_Del	DEL	ENST00000312865.6	37	c.1718delA	CCDS33075.1																																																																																				0.667	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		2	4						2	4	---	---	---	---	-	50338834	A	-	50338834	7	5	21	1	0	1	0	1	0	0	0	0	9443	304	11	0	1776	0	MED25	19	50338834	Frame_Shift_Del	DEL	A	TCGA-QR-A6H2-01A-11D-A35D-08		50338834	8790149	10	407										
MBTPS2	51360	broad.mit.edu	37	chrX	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-													0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	cgccatgattccggtgtcgcTggtggtggtggtggtgggtg					rs398124305		TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chrX:21857869_21857871delTGG	ENST00000379484.5	+	1	116_118	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_In_Frame_Del_p.V11del	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685																																						ENST00000365779.2																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(16-21)ctg>c		membrane-bound transcription factor peptidase, site 2				318,3361		136,29,17,1421,490						2.4	1			49	402,6025		122,56,102,2168,1633	no	coding	MBTPS2	NM_015884.3		258,85,119,3589,2123	A1A1,A1R,A1,RR,R		6.2549,8.6437,7.1245				720,9386				SO:0001651	inframe_deletion	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21857869_21857871delTGG	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.17_19delTGG	X.37:g.21857878_21857880delTGG	ENSP00000368798:p.Val11del					MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del	p.LV6del			O43462	MBTP2_HUMAN			1	98_100	+			6					Q9UM70|Q9UMD3	In_Frame_Del	DEL	ENST00000379484.5	37	c.17_19delTGG	CCDS14201.1																																																																																				0.685	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			3	5						3	5	---	---	---	---	-	21857871	TGG	-	21857869	7	5	21	1	0	1	0	1	0	0	0	0	9362	1580	55	0	19	0	MBTPS2	23	21857869	In_Frame_Del	DEL	TGG	TCGA-QR-A6H2-01A-11D-A35D-08		21857869	133412691	11	408										
PCYT1B	9468	broad.mit.edu	37	chrX	24637194	24637195	+	Frame_Shift_Del	DEL	GT	GT	-													0.0833333333333333	1	1	2.51666666666667	5.03333333333333	0	1	1	0	cagcaaatggggcaggtgcaGtcagggtctagaagggagaa							TCGA-QR-A6H2-01A-11D-A35D-08	TCGA-QR-A6H2-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b	bb232599-25b5-450c-ad06-07c2393d0e15	g.chrX:24637194_24637195delGT	ENST00000379144.2	-	2	254_255	c.124_125delAC	c.(124-126)actfs	p.T42fs	PCYT1B_ENST00000379145.1_Frame_Shift_Del_p.T24fs|PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	42					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	GGCAGGTGCAGTCAGGGTCTAG	0.48																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(70-72)tfs		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)																																			SO:0001589	frameshift_variant	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24637194_24637195delGT	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.124_125delAC	X.37:g.24637194_24637195delGT	ENSP00000368439:p.Thr42fs					PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.T42fs|PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs	p.T24fs	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			2	114_115	-			42					A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Frame_Shift_Del	DEL	ENST00000379144.2	37	c.70_71delAC	CCDS14213.1																																																																																				0.48	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		10	2						10	2	---	---	---	---	-	24637195	GT	-	24637194	7	5	21	1	0	1	0	1	0	0	0	0	11611	1029	36	0	1049	0	PCYT1B	23	24637194	Frame_Shift_Del	DEL	GT	TCGA-QR-A6H2-01A-11D-A35D-08	2779325	24637194	130633366	12	409										
ELF3	1999	broad.mit.edu	37	chr1	201982405	201982405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	aagagtactgggactgtctcGagggcaagaagagcaagcac	14	8	1	3			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr1:201982405G>A	ENST00000359651.3	+	6	3976	c.784G>A	c.(784-786)Gag>Aag	p.E262K	ELF3_ENST00000367284.5_Missense_Mutation_p.E262K|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.E262*(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGACTGTCTCGAGGGCAAGAA	0.632																																						ENST00000359651.3																			1	Substitution - Nonsense(1)	p.E262*(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(784-786)Gag>Aag		E74-like factor 3 (ets domain transcription factor, epithelial-specific )							71	77	75					1																	201982405		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982405G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.784G>A	1.37:g.201982405G>A	ENSP00000352673:p.Glu262Lys					ELF3_ENST00000367284.5_Missense_Mutation_p.E262K|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.E262K	p.E262K			P78545	ELF3_HUMAN			6	3976	+			262						Missense_Mutation	SNP	ENST00000359651.3	37	c.784G>A	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845112	0.71603	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044	T;T;T	0.13538	2.58;2.58;2.58	5.6	5.6	0.85130	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.419500	0.03867	N	0.275079	T	0.21674	0.0522	M	0.67953	2.075	0.46376	D	0.999015	B	0.22541	0.071	B	0.21360	0.034	T	0.57888	-0.7733	10	0.06891	T	0.86	.	17.4077	0.87477	0.0:0.0:1.0:0.0	.	262	P78545	ELF3_HUMAN	K	262;262;262;239	ENSP00000352673:E262K;ENSP00000356253:E262K;ENSP00000356252:E262K	ENSP00000311348:E239K	E	+	1	0	ELF3	200249028	0.468000	0.25839	0.994000	0.49952	0.974000	0.67602	1.618000	0.36954	2.633000	0.89246	0.561000	0.74099	GAG		0.632	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		10	30	0	0	0	1	0	10	30					A	201982405	G	A	201982405	3	1	22	1	0	0	0	0	1	0	0	0	5055	1059	37	2	806	2	ELF3	1	201982405	Missense_Mutation	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08		201982405	47268216	1	410										
EIF2AK1	27102	broad.mit.edu	37	chr7	6085711	6085711	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaaatcataccttcatgcaAactgttttagttgcaccctt	4	10	2	0			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr7:6085711A>C	ENST00000199389.6	-	6	767	c.621T>G	c.(619-621)gtT>gtG	p.V207V	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.V83V|RN7SL851P_ENST00000480512.2_RNA	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CCTTCATGCAAACTGTTTTAG	0.254																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(619-621)gtT>gtG		eukaryotic translation initiation factor 2-alpha kinase 1							77	75	76					7																	6085711		2200	4297	6497	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6085711A>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"heme regulated initiation factor 2 alpha kinase"	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.621T>G	7.37:g.6085711A>C						EIF2AK1_ENST00000536084.1_Silent_p.V83V|EIF2AK1_ENST00000495565.1_5'UTR	p.V207V	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	6	767	-		Ovarian(82;0.0423)	207			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.621T>G	CCDS5345.1																																																																																				0.254	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		6	18	0	0	0	1	0	6	18					C	6085711	A	C	6085711	2	2	22	1	0	0	0	0	0	0	0	1	4996	1	1	5		5	EIF2AK1	7	6085711	Silent	SNP	A	TCGA-QR-A6H3-01A-11D-A35D-08		6085711	153052952	2	411										
RP1	6101	broad.mit.edu	37	chr8	55541350	55541350	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agggcaatagaaaaactgtaCggtaaagcagatattatcaa	9	5	1	2	rs200942439	byFrequency	TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr8:55541350C>T	ENST00000220676.1	+	4	5056	c.4908C>T	c.(4906-4908)taC>taT	p.Y1636Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1636					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAAACTGTACGGTAAAGCAG	0.373													C|||	4	0.000798722	0.0015	0.0029	5008	,	,		20634	0		0	False		,,,				2504	0				Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4906-4908)taC>taT		retinitis pigmentosa 1 (autosomal dominant)		C		0,4406		0,0,2203	89	93	92		4908	2.1	1	8		92	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RP1	NM_006269.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1636/2157	55541350	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541350C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4908C>T	8.37:g.55541350C>T							p.Y1636Y	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5056	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1636						Silent	SNP	ENST00000220676.1	37	c.4908C>T	CCDS6160.1																																																																																				0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	96	0	0	0	1	0	5	96					T	55541350	C	T	55541350	2	4	22	1	0	0	0	0	0	0	0	1	13532	547	19	1		1	RP1	8	55541350	Silent	SNP	C	TCGA-QR-A6H3-01A-11D-A35D-08		55541350	90822672	3	412										
C8orf33	65265	broad.mit.edu	37	chr8	146278159	146278159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccgttgggcgatgaaggcgGcacagcgtcgaaaaaacaaa	13	10	0	1			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr8:146278159G>A	ENST00000331434.6	+	2	308	c.194G>A	c.(193-195)gGc>gAc	p.G65D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	65										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GATGAAGGCGGCACAGCGTCG	0.557																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(193-195)gGc>gAc		chromosome 8 open reading frame 33							53	55	54					8																	146278159		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146278159G>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.194G>A	8.37:g.146278159G>A	ENSP00000330361:p.Gly65Asp						p.G65D	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	2	308	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		65					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.194G>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	7.402	0.632927	0.14322	.	.	ENSG00000182307	ENST00000331434	.	.	.	2.45	-4.09	0.03951	.	1.940650	0.02738	N	0.115994	T	0.07999	0.0200	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10359	-1.0633	8	.	.	.	0.1822	0.2734	0.00235	0.2576:0.1986:0.1508:0.393	.	65	Q9H7E9	CH033_HUMAN	D	65	.	.	G	+	2	0	C8orf33	146248963	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.397000	0.07269	-0.954000	0.03640	-0.367000	0.07326	GGC		0.557	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		3	55	0	0	0	1	0	3	55					A	146278159	G	A	146278159	3	1	22	1	0	0	0	0	1	0	0	0	2421	1203	42	3	200	3	C8orf33	8	146278159	Missense_Mutation	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08	90736809	146278159	85863	4	413										
STXBP1	6812	broad.mit.edu	37	chr9	130434339	130434339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcccttacagaccaccatgCgggacctgtcccagatgctg	9	15	0	2			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr9:130434339C>T	ENST00000373299.1	+	12	1088	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R325W|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	325					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GACCACCATGCGGGACCTGTC	0.502																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(973-975)Cgg>Tgg		syntaxin binding protein 1							123	114	117					9																	130434339		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130434339C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.973C>T	9.37:g.130434339C>T	ENSP00000362396:p.Arg325Trp					STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Missense_Mutation_p.R325W	p.R325W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			12	1112	+			325					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.973C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898006	0.52227	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80653	-1.4;-1.4	5.41	2.03	0.26663	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.81112	2.525	0.58432	D	0.999999	P;P	0.46656	0.882;0.857	B;B	0.39379	0.298;0.197	T	0.76024	-0.3110	10	0.87932	D	0	-21.1243	6.3381	0.21306	0.4759:0.4339:0.0:0.0902	.	325;325	P61764;P61764-2	STXB1_HUMAN;.	W	279;325;157;325	ENSP00000362399:R325W;ENSP00000362396:R325W	ENSP00000362396:R325W	R	+	1	2	STXBP1	129474160	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.962000	0.49176	0.740000	0.32651	-0.258000	0.10820	CGG		0.502	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		3	52	0	0	0	1	0	3	52					T	130434339	C	T	130434339	3	4	22	1	0	0	0	0	1	0	0	0	15351	759	27	1	1019	1	STXBP1	9	130434339	Missense_Mutation	SNP	C	TCGA-QR-A6H3-01A-11D-A35D-08		130434339	10779092	5	414										
DLG5	9231	broad.mit.edu	37	chr10	79580907	79580907	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aactgggagcagattttggcCggcgacgcttctgccccagc	13	13	1	1	rs372580241	byFrequency	TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr10:79580907C>A	ENST00000372391.2	-	15	3340	c.3335G>T	c.(3334-3336)cGg>cTg	p.R1112L	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1112					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGATTTTGGCCGGCGACGCTT	0.602																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3334-3336)cGg>cTg		discs, large homolog 5 (Drosophila)							49	53	51					10																	79580907		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79580907C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3335G>T	10.37:g.79580907C>A	ENSP00000361467:p.Arg1112Leu					DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	p.R1112L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3340	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1112					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3335G>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773090	0.90108	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.12255	2.7	5.69	5.69	0.88448	.	0.000000	0.33534	N	0.004809	T	0.32194	0.0821	L	0.59436	1.845	0.80722	D	1	D;P	0.61697	0.99;0.856	P;P	0.58210	0.835;0.454	T	0.00605	-1.1648	10	0.59425	D	0.04	.	19.8062	0.96532	0.0:1.0:0.0:0.0	.	1002;1112	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	L	1112;661	ENSP00000361467:R1112L	ENSP00000361467:R1112L	R	-	2	0	DLG5	79250913	1.000000	0.71417	0.989000	0.46669	0.897000	0.52465	7.267000	0.78462	2.679000	0.91253	0.655000	0.94253	CGG		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			7	36	1	0	1.12685e-05	1	1.19728e-05	7	36					A	79580907	C	A	79580907	3	1	22	1	0	0	0	0	1	0	0	0	4558	652	23	5	2496	5	DLG5	10	79580907	Missense_Mutation	SNP	C	TCGA-QR-A6H3-01A-11D-A35D-08		79580907	55953840	6	415										
AHNAK2	113146	broad.mit.edu	37	chr14	105409427	105409427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtcacatccttgtcggccaGggacaggtccccctccagct	10	16	1	0			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12361-12363)Ctg>Ttg		AHNAK nucleoprotein 2							247	258	254					14																	105409427		2014	4154	6168	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409427G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12361C>T	14.37:g.105409427G>A						AHNAK2_ENST00000557457.1_Intron	p.L4121L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4121					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12361C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	409	0	0	0	1	0	8	409					A	105409427	G	A	105409427	2	1	22	1	0	0	0	0	0	0	0	1	415	991	35	3		3	AHNAK2	14	105409427	Silent	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08		105409427	1940113	7	416										
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197281	39197281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggcaggtaccctccacacgGcagtctgggcggcaccacct	12	16	1	0			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr17:39197281G>A	ENST00000306271.4	-	1	432	c.369C>T	c.(367-369)tgC>tgT	p.C123C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	123						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCTCCACACGGCAGTCTGGGC	0.677																																						ENST00000306271.4																			0				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(367-369)tgC>tgT		keratin associated protein 1-1							22	27	25					17																	39197281		2052	4168	6220	SO:0001819	synonymous_variant	81851					extracellular region|keratin filament		g.chr17:39197281G>A	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.369C>T	17.37:g.39197281G>A							p.C123C	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	432	-		Breast(137;0.000496)	123					A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	c.369C>T	CCDS42324.1																																																																																				0.677	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		7	26	0	0	0	1	0	7	26					A	39197281	G	A	39197281	2	1	22	1	0	0	0	0	0	0	0	1	8502	1195	42	3		3	KRTAP1-1	17	39197281	Silent	SNP	G	TCGA-QR-A6H3-01A-11D-A35D-08		39197281	41997929	8	417										
BPTF	2186	broad.mit.edu	37	chr17	65916168	65916168	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcacaacaacagaaataatTaagaggagagatgttggtcc	9	6	1	3			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr17:65916168T>G	ENST00000321892.4	+	15	5905	c.5844T>G	c.(5842-5844)atT>atG	p.I1948M	BPTF_ENST00000306378.6_Missense_Mutation_p.I1822M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1948					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAATAATTAAGAGGAGAG	0.333																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(5842-5844)atT>atG		bromodomain PHD finger transcription factor							137	139	138					17																	65916168		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65916168T>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5844T>G	17.37:g.65916168T>G	ENSP00000315454:p.Ile1948Met					BPTF_ENST00000306378.6_Missense_Mutation_p.I1822M|BPTF_ENST00000424123.3_Missense_Mutation_p.I1809M|BPTF_ENST00000335221.5_Missense_Mutation_p.I1948M	p.I1948M			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		15	5905	+	all_cancers(12;6e-11)		1948					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.5844T>G		.	.	.	.	.	.	.	.	.	.	T	13.44	2.237192	0.39498	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.13538	2.58;2.58;2.58	5.65	4.58	0.56647	.	.	.	.	.	T	0.27098	0.0664	L	0.50333	1.59	0.50467	D	0.999872	D;D	0.89917	0.998;1.0	D;D	0.91635	0.996;0.999	T	0.01472	-1.1346	9	0.72032	D	0.01	-15.1665	6.8063	0.23779	0.0:0.2529:0.0:0.7471	.	1822;1948	Q12830-2;Q12830-4	.;.	M	1822;1948;1948	ENSP00000307208:I1822M;ENSP00000334351:I1948M;ENSP00000315454:I1948M	ENSP00000307208:I1822M	I	+	3	3	BPTF	63346630	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.857000	0.27831	2.154000	0.67381	0.533000	0.62120	ATT		0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	101	0	0	0	1	0	4	101					G	65916168	T	G	65916168	3	3	22	1	0	0	0	0	1	0	0	0	1495	1742	61	5	5902	5	BPTF	17	65916168	Missense_Mutation	SNP	T	TCGA-QR-A6H3-01A-11D-A35D-08	26718887	65916168	15279042	9	418										
LILRB5	10990	broad.mit.edu	37	chr19	54760448	54760448	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcactgtcatacaccgtggAtggaatgtggaacttggcct	12	9	1	0			TCGA-QR-A6H3-01A-11D-A35D-08	TCGA-QR-A6H3-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdebdcda-b632-47d0-b0d1-b6b88e9e06c8	2b45c73f-cb97-478e-8b4b-9b71354dd075	g.chr19:54760448A>T	ENST00000316219.5	-	3	366	c.259T>A	c.(259-261)Tcc>Acc	p.S87T	LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T|LILRB5_ENST00000450632.1_Missense_Mutation_p.S87T|LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	87	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TACACCGTGGATGGAATGTGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(259-261)Tcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							241	229	233					19																	54760448		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760448A>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.259T>A	19.37:g.54760448A>T	ENSP00000320390:p.Ser87Thr					LILRB5_ENST00000345866.6_Missense_Mutation_p.S87T|LILRB5_ENST00000316219.5_Missense_Mutation_p.S87T|LILRB5_ENST00000449561.2_Missense_Mutation_p.S87T	p.S87T			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	336	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		87			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.259T>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	9.137	1.012775	0.19277	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	3.29	-6.58	0.01836	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.157160	0.01998	N	0.046032	T	0.17152	0.0412	M	0.63843	1.955	0.09310	N	1	D;B;B;P;P	0.55172	0.97;0.06;0.01;0.751;0.617	P;B;B;B;B	0.55222	0.771;0.024;0.009;0.297;0.291	T	0.43458	-0.9390	10	0.45353	T	0.12	.	0.9926	0.01460	0.2636:0.1259:0.3605:0.2501	.	87;78;87;87;87	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	T	87	ENSP00000320390:S87T;ENSP00000414225:S87T;ENSP00000406478:S87T;ENSP00000263430:S87T	ENSP00000320390:S87T	S	-	1	0	LILRB5	59452260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.953000	0.00676	-2.159000	0.00787	-0.361000	0.07541	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			53	208	0	0	0	1	0	53	208					T	54760448	A	T	54760448	3	4	22	1	0	0	0	0	1	0	0	0	8794	333	12	5	1560	5	LILRB5	19	54760448	Missense_Mutation	SNP	A	TCGA-QR-A6H3-01A-11D-A35D-08		54760448	4368535	10	419										
GATAD2B	57459	broad.mit.edu	37	chr1	153784291	153784291	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagcgggcagatgtgggtaTgccacgctggaggctgctct	18	9	1	1			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr1:153784291T>C	ENST00000368655.4	-	10	1807	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	522					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGTGGGTATGCCACGCTGG	0.517																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(1564-1566)Ata>Gta		GATA zinc finger domain containing 2B							59	57	58					1																	153784291		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153784291T>C	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1564A>G	1.37:g.153784291T>C	ENSP00000357644:p.Ile522Val						p.I522V	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	1807	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		522					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1564A>G	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	6.791	0.514980	0.12944	.	.	ENSG00000143614	ENST00000368655	T	0.31247	1.5	5.52	5.52	0.82312	.	0.172208	0.51477	D	0.000084	T	0.06234	0.0161	N	0.11427	0.14	0.30365	N	0.783436	B	0.18461	0.028	B	0.14578	0.011	T	0.15292	-1.0442	10	0.08599	T	0.76	-16.6883	14.7594	0.69593	0.0:0.0:0.0:1.0	.	522	Q8WXI9	P66B_HUMAN	V	522	ENSP00000357644:I522V	ENSP00000357644:I522V	I	-	1	0	GATAD2B	152050915	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.206000	0.42779	2.317000	0.78254	0.460000	0.39030	ATA		0.517	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		17	17	0	0	0	1	0	17	17					C	153784291	T	C	153784291	3	2	23	1	0	0	0	0	1	0	0	0	6261	1464	51	4	225	4	GATAD2B	1	153784291	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		153784291	95466330	1	420										
SEC16B	89866	broad.mit.edu	37	chr1	177928060	177928060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctcagatttgcagctctgaGctgctttctgctggcaaaac	9	11	3	2			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr1:177928060G>T	ENST00000308284.6	-	9	1138	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	SEC16B_ENST00000464631.2_Missense_Mutation_p.A351D|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	350					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGCTCTGAGCTGCTTTCTG	0.483																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1048-1050)gCt>gAt		SEC16 homolog B (S. cerevisiae)							66	66	66					1																	177928060		1916	4134	6050	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177928060G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1049C>A	1.37:g.177928060G>T	ENSP00000308339:p.Ala350Asp					RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.A351D|RP4-798P15.3_ENST00000528461.1_3'UTR	p.A350D	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			9	1138	-			350					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1049C>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926504	0.52759	.	.	ENSG00000120341	ENST00000308284;ENST00000239472;ENST00000464631	T;T	0.46819	0.86;0.86	5.08	1.08	0.20341	Sec16, central conserved domain (1);	0.486350	0.20662	N	0.088011	T	0.52306	0.1726	M	0.69823	2.125	0.24323	N	0.995034	D;P;B;P	0.53745	0.962;0.909;0.066;0.909	P;P;B;P	0.56088	0.791;0.791;0.155;0.751	T	0.43972	-0.9358	10	0.19590	T	0.45	-0.0032	6.1247	0.20172	0.2105:0.2476:0.5419:0.0	.	351;351;350;47	E9PK14;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	D	350;65;351	ENSP00000308339:A350D;ENSP00000431727:A351D	ENSP00000239472:A65D	A	-	2	0	AL359075.1	176194683	0.420000	0.25457	0.707000	0.30419	0.946000	0.59487	0.465000	0.22004	0.012000	0.14892	-0.812000	0.03155	GCT		0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		3	29	1	0	1	1	1	3	29					T	177928060	G	T	177928060	3	4	23	1	0	0	0	0	1	0	0	0	13987	971	34	5	2205	5	SEC16B	1	177928060	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08	24143769	177928060	71322561	2	421										
USP34	9736	broad.mit.edu	37	chr2	61544839	61544839	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtagccaatcgagccaagtTacagagatgctgaaacaggt	12	8	0	2			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr2:61544839T>A	ENST00000398571.2	-	23	3308	c.3232A>T	c.(3232-3234)Aac>Tac	p.N1078Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1078					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CGAGCCAAGTTACAGAGATGC	0.398																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(3232-3234)Aac>Tac		ubiquitin specific peptidase 34							99	95	96					2																	61544839		1862	4107	5969	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61544839T>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3232A>T	2.37:g.61544839T>A	ENSP00000381577:p.Asn1078Tyr						p.N1078Y	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		23	3308	-			1078					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3232A>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525099	0.85600	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03982	3.74	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.01617	-1.1311	10	0.54805	T	0.06	.	15.1398	0.72601	0.0:0.0:0.0:1.0	.	1078	Q70CQ2	UBP34_HUMAN	Y	926;926;1078	ENSP00000381577:N1078Y	ENSP00000263989:N926Y	N	-	1	0	USP34	61398343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.736000	0.84948	1.974000	0.57490	0.477000	0.44152	AAC		0.398	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			25	53	0	0	0	1	0	25	53					A	61544839	T	A	61544839	3	1	23	1	0	0	0	0	1	0	0	0	17062	1754	61	5	7640	5	USP34	2	61544839	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		61544839	181654534	3	422										
HPS3	84343	broad.mit.edu	37	chr3	148868448	148868448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctcgtgaggaggacccgtAcatggacaccaccctgaagg	13	12	0	2			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr3:148868448A>G	ENST00000296051.2	+	6	1366	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	HPS3_ENST00000460120.1_Missense_Mutation_p.Y244C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	409					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAGGACCCGTACATGGACACC	0.517									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(1225-1227)tAc>tGc		Hermansky-Pudlak syndrome 3							129	115	120					3																	148868448		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148868448A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1226A>G	3.37:g.148868448A>G	ENSP00000296051:p.Tyr409Cys					HPS3_ENST00000460120.1_Missense_Mutation_p.Y244C	p.Y409C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1366	+			409					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1226A>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202960	0.79127	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64260	-0.09;-0.09	5.27	5.27	0.74061	.	0.133611	0.52532	D	0.000068	T	0.78046	0.4222	M	0.70275	2.135	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.986	T	0.80968	-0.1145	10	0.87932	D	0	-8.1335	15.4791	0.75511	1.0:0.0:0.0:0.0	.	244;409	G5E9V4;Q969F9	.;HPS3_HUMAN	C	409;244	ENSP00000296051:Y409C;ENSP00000418230:Y244C	ENSP00000296051:Y409C	Y	+	2	0	HPS3	150351138	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	7.825000	0.86693	2.119000	0.64992	0.528000	0.53228	TAC		0.517	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		24	28	0	0	0	1	0	24	28					G	148868448	A	G	148868448	3	3	23	1	0	0	0	0	1	0	0	0	7340	391	14	4	1248	4	HPS3	3	148868448	Missense_Mutation	SNP	A	TCGA-QR-A6H4-01A-11D-A35D-08		148868448	49153982	4	423										
ADAMTS16	170690	broad.mit.edu	37	chr5	5239326	5239326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgtctgtggggtgtgtaaCgggaataactcagcctgcac	14	9	2	0	rs202019608		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512																																						ENST00000274181.7																			4	Substitution - coding silent(4)	p.N739N(4)	lung(4)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2215-2217)aaC>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 16		C		3,4121		0,3,2059	258	253	255		2217	0.4	0.6	5		255	2,8424		0,2,4211	no	coding-synonymous	ADAMTS16	NM_139056.2		0,5,6270	TT,TC,CC		0.0237,0.0727,0.0398		739/1225	5239326	5,12545	2062	4213	6275	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239326C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2217C>T	5.37:g.5239326C>T							p.N739N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			15	2355	+			739			Cys-rich.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2217C>T	CCDS43299.1																																																																																				0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		88	102	0	0	0	1	0	88	102					T	5239326	C	T	5239326	2	4	23	1	0	0	0	0	0	0	0	1	261	535	19	1		1	ADAMTS16	5	5239326	Silent	SNP	C	TCGA-QR-A6H4-01A-11D-A35D-08		5239326	175675934	5	424										
PTPRK	5796	broad.mit.edu	37	chr6	128643275	128643275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacattccaaattggattgGcaagaggtcctttattcacc	7	10	2	1	rs200718777		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr6:128643275G>A	ENST00000368215.3	-	3	403	c.404C>T	c.(403-405)gCc>gTc	p.A135V	PTPRK_ENST00000368226.4_Missense_Mutation_p.A135V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368227.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A135V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.A135V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A135V|PTPRK_ENST00000525459.1_Missense_Mutation_p.A135V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	135	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AATTGGATTGGCAAGAGGTCC	0.433													G|||	1	0.000199681	0	0.0014	5008	,	,		19387	0		0	False		,,,				2504	0					ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(403-405)gCc>gTc		protein tyrosine phosphatase, receptor type, K							131	125	127					6																	128643275		2203	4299	6502	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128643275G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.404C>T	6.37:g.128643275G>A	ENSP00000357198:p.Ala135Val					PTPRK_ENST00000368207.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A135V|PTPRK_ENST00000525459.1_Missense_Mutation_p.A135V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A135V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.A135V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A135V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A135V	p.A135V			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	3	770	-			135			MAM.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.404C>T		0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	20.3|20.3	3.973739|3.973739	0.74246|0.74246	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459|ENST00000490332	T;T;T;T;T;T;T;T|.	0.02197|.	4.4;4.4;4.4;4.4;4.4;4.4;4.4;4.4|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61035|0.61035	0.2315|0.2315	L|L	0.43152|0.43152	1.355|1.355	0.43782|0.43782	D|D	0.996311|0.996311	B;B;B;D;B;B|.	0.52996|.	0.021;0.174;0.38;0.957;0.003;0.002|.	B;B;B;P;B;B|.	0.46758|.	0.019;0.328;0.22;0.526;0.007;0.004|.	T|T	0.54296|0.54296	-0.8315|-0.8315	10|5	0.72032|.	D|.	0.01|.	.|.	19.6279|19.6279	0.95687|0.95687	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	135;135;135;135;135;135|.	B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2|.	.;.;.;.;PTPRK_HUMAN;.|.	V|S	135|18	ENSP00000357209:A135V;ENSP00000357210:A135V;ENSP00000432973:A135V;ENSP00000357196:A135V;ENSP00000357193:A135V;ENSP00000357198:A135V;ENSP00000357190:A135V;ENSP00000434116:A135V|.	ENSP00000357190:A135V|.	A|P	-|-	2|1	0|0	PTPRK|PTPRK	128684968|128684968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.274000|4.274000	0.58921|0.58921	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.433	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	64	0	0	0	1	0	4	64					A	128643275	G	A	128643275	3	1	23	1	0	0	0	0	1	0	0	0	12805	1203	42	3	4052	3	PTPRK	6	128643275	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08		128643275	42471792	6	425										
MRPL13	28998	broad.mit.edu	37	chr8	121432125	121432125	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agatgcaacctttccatcatTgttcttctgtgaaggttttt	7	8	3	2			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr8:121432125T>G	ENST00000306185.3	-	5	651	c.360A>C	c.(358-360)acA>acC	p.T120T		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	120					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTCCATCATTGTTCTTCTGT	0.323																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(358-360)acA>acC		mitochondrial ribosomal protein L13							94	88	90					8																	121432125		2203	4299	6502	SO:0001819	synonymous_variant	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121432125T>G	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.360A>C	8.37:g.121432125T>G							p.T120T	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		5	651	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		120					B2R4R8|Q9UI04	Silent	SNP	ENST00000306185.3	37	c.360A>C	CCDS6332.1																																																																																				0.323	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		11	23	0	0	0	1	0	11	23					G	121432125	T	G	121432125	2	3	23	1	0	0	0	0	0	0	0	1	9778	1799	63	5		5	MRPL13	8	121432125	Silent	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		121432125	24931897	7	426										
NOTCH1	4851	broad.mit.edu	37	chr9	139395286	139395286	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcaggaggcgatcatgagCggggtgaagccatctgcaga	16	9	2	3			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr9:139395286C>T	ENST00000277541.6	-	31	5727	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1884					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5650-5652)ccG>ccA		notch 1							12	15	14					9																	139395286		1987	4152	6139	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395286C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5652G>A	9.37:g.139395286C>T		HNSCC(8;0.001)					p.P1884P	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5727	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1884					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5652G>A	CCDS43905.1																																																																																				0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	8	0	0	0	1	0	7	8					T	139395286	C	T	139395286	2	4	23	1	0	0	0	0	0	0	0	1	10547	755	27	1		1	NOTCH1	9	139395286	Silent	SNP	C	TCGA-QR-A6H4-01A-11D-A35D-08		139395286	1818145	8	427										
TACC2	10579	broad.mit.edu	37	chr10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaaaggaagcagcaggacaCgcccggaagccctgaccaca	11	13	0	1	rs540521848		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr10:123810032C>T	ENST00000369005.1	+	3	453	c.113C>T	c.(112-114)aCg>aTg	p.T38M	TACC2_ENST00000515603.1_Missense_Mutation_p.T38M|TACC2_ENST00000515273.1_Missense_Mutation_p.T38M|TACC2_ENST00000453444.2_Missense_Mutation_p.T38M|TACC2_ENST00000358010.1_Missense_Mutation_p.T38M|TACC2_ENST00000513429.1_Missense_Mutation_p.T38M|TACC2_ENST00000334433.3_Missense_Mutation_p.T38M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	38					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.T38M(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCAGGACACGCCCGGAAGC	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		16991	0		0	False		,,,				2504	0					ENST00000369005.1																			1	Substitution - Missense(1)	p.T38M(1)	kidney(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(112-114)aCg>aTg		transforming, acidic coiled-coil containing protein 2							48	50	49					10																	123810032		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123810032C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.113C>T	10.37:g.123810032C>T	ENSP00000358001:p.Thr38Met					TACC2_ENST00000515603.1_Missense_Mutation_p.T38M|TACC2_ENST00000453444.2_Missense_Mutation_p.T38M|TACC2_ENST00000515273.1_Missense_Mutation_p.T38M|TACC2_ENST00000513429.1_Missense_Mutation_p.T38M|TACC2_ENST00000358010.1_Missense_Mutation_p.T38M|TACC2_ENST00000334433.3_Missense_Mutation_p.T38M	p.T38M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			3	453	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	38					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.113C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999316	0.35226	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076	T;T;T;T;T;T;T	0.56444	0.46;0.46;4.05;4.05;0.46;0.46;4.05	4.39	1.01	0.19927	.	.	.	.	.	T	0.27027	0.0662	N	0.14661	0.345	0.09310	N	1	P;P;B;P	0.45715	0.865;0.865;0.434;0.865	B;B;B;B	0.32805	0.153;0.153;0.055;0.153	T	0.10474	-1.0628	9	0.59425	D	0.04	2.2023	6.1553	0.20334	0.2884:0.5869:0.0:0.1246	.	38;38;38;38	E9PBC6;E7EMZ9;O95359-5;O95359	.;.;.;TACC2_HUMAN	M	38;38;38;38;38;38;38;28	ENSP00000358001:T38M;ENSP00000425062:T38M;ENSP00000424467:T38M;ENSP00000427618:T38M;ENSP00000334280:T38M;ENSP00000350701:T38M;ENSP00000395048:T38M	ENSP00000334280:T38M	T	+	2	0	TACC2	123800022	0.000000	0.05858	0.000000	0.03702	0.463000	0.32649	0.086000	0.14935	0.096000	0.17463	0.655000	0.94253	ACG		0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			6	36	0	0	0	1	0	6	36					T	123810032	C	T	123810032	3	4	23	1	0	0	0	0	1	0	0	0	15499	536	19	1	119	1	TACC2	10	123810032	Missense_Mutation	SNP	C	TCGA-QR-A6H4-01A-11D-A35D-08		123810032	11724715	9	428										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		28	58	0	0	0	1	0	28	58					C	533874	T	C	533874	3	2	23	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08		533874	134472642	10	429										
TMEM45B	120224	broad.mit.edu	37	chr11	129728510	129728510	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	acacggaaggggagaaatcaTtggaattcagaagctgaatt							TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr11:129728510delT	ENST00000524567.1	+	6	1039	c.758delT	c.(757-759)attfs	p.I253fs	TMEM45B_ENST00000281441.3_Frame_Shift_Del_p.I253fs			Q96B21	TM45B_HUMAN	transmembrane protein 45B	253						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GGAGAAATCATTGGAATTCAG	0.478																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(757-759)atfs		transmembrane protein 45B							59	58	59					11																	129728510		2201	4296	6497	SO:0001589	frameshift_variant	120224					integral to membrane		g.chr11:129728510delT	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.758delT	11.37:g.129728510delT	ENSP00000436293:p.Ile253fs					TMEM45B_ENST00000524567.1_Frame_Shift_Del_p.I253fs	p.I253fs	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	6	846	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	253					A8K2L8	Frame_Shift_Del	DEL	ENST00000524567.1	37	c.758delT	CCDS8482.1																																																																																				0.478	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		2	4						2	4	---	---	---	---	-	129728510	T	-	129728510	7	5	23	1	0	1	0	1	0	0	0	0	16167	1493	52	0	776	0	TMEM45B	11	129728510	Frame_Shift_Del	DEL	T	TCGA-QR-A6H4-01A-11D-A35D-08	129194636	129728510	5278006	11	430										
AHNAK2	113146	broad.mit.edu	37	chr14	105406664	105406664	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaggatccacgtctctctGtggcaggctgaccccactct	11	14	3	1			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr14:105406664G>C	ENST00000333244.5	-	7	15243	c.15124C>G	c.(15124-15126)Cag>Gag	p.Q5042E	AHNAK2_ENST00000557457.1_Missense_Mutation_p.Q40E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5042						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCTCTCTGTGGCAGGCTG	0.552																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15124-15126)Cag>Gag		AHNAK nucleoprotein 2							107	112	110					14																	105406664		1995	4178	6173	SO:0001583	missense	113146					nucleus		g.chr14:105406664G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15124C>G	14.37:g.105406664G>C	ENSP00000353114:p.Gln5042Glu					AHNAK2_ENST00000557457.1_Missense_Mutation_p.Q40E	p.Q5042E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15243	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5042					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15124C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	2.911	-0.225406	0.06022	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01821	4.62;5.42	3.62	-0.876	0.10624	.	3.052920	0.02092	U	0.053205	T	0.01353	0.0044	L	0.33485	1.01	0.09310	N	1	B	0.33103	0.397	B	0.30316	0.114	T	0.42649	-0.9439	10	0.06757	T	0.87	.	0.2922	0.00260	0.214:0.2374:0.2371:0.3114	.	5042	Q8IVF2	AHNK2_HUMAN	E	40;5042	ENSP00000450998:Q40E;ENSP00000353114:Q5042E	ENSP00000353114:Q5042E	Q	-	1	0	AHNAK2	104477709	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.201000	0.17276	0.171000	0.19730	0.561000	0.74099	CAG		0.552	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		36	54	0	0	0	1	0	36	54					C	105406664	G	C	105406664	3	2	23	1	0	0	0	0	1	0	0	0	415	1386	48	5	2267	5	AHNAK2	14	105406664	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08		105406664	1942876	12	431										
GDE1	51573	broad.mit.edu	37	chr16	19533268	19533268	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	agggcccaggaggccgccctGgtcctcccacagccacatgc							TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr16:19533268delG	ENST00000353258.3	-	1	199	c.19delC	c.(19-21)cagfs	p.Q7fs	CCP110_ENST00000396208.2_5'Flank|CCP110_ENST00000381396.5_5'Flank|CCP110_ENST00000396212.2_5'Flank	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	7					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGGCCGCCCTGGTCCTCCCAC	0.706																																						ENST00000353258.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						c.(19-21)agfs		glycerophosphodiester phosphodiesterase 1							9	11	10					16																	19533268		2143	4218	6361	SO:0001589	frameshift_variant	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19533268delG		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.19delC	16.37:g.19533268delG	ENSP00000261386:p.Gln7fs						p.Q7fs	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN			1	199	-			7					O43334|Q6PKF7|Q7KYR4	Frame_Shift_Del	DEL	ENST00000353258.3	37	c.19delC	CCDS10578.1																																																																																				0.706	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		2	4						2	4	---	---	---	---	-	19533268	G	-	19533268	7	5	23	1	0	1	0	1	0	0	0	0	6310	1357	47	0	1000	0	GDE1	16	19533268	Frame_Shift_Del	DEL	G	TCGA-QR-A6H4-01A-11D-A35D-08		19533268	70821485	13	432										
RAI1	10743	broad.mit.edu	37	chr17	17696337	17696350	+	Frame_Shift_Del	DEL	ACGCCTAGAGAATT	ACGCCTAGAGAATT	-													0	0	1	0	0	0	1	1	0	cagacctcgcaggaaacatcAcgcctagagaattacaggca					rs139160898|rs376964045		TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr17:17696337_17696350delACGCCTAGAGAATT	ENST00000353383.1	+	3	544_557	c.75_88delACGCCTAGAGAATT	c.(73-90)tcacgcctagagaattacfs	p.RLENY26fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.RLENY26fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	26					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAAACATCACGCCTAGAGAATTACAGGCAGCC	0.556																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(73-90)tcacfs		retinoic acid induced 1																																				SO:0001589	frameshift_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696337_17696350delACGCCTAGAGAATT	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.75_88delACGCCTAGAGAATT	17.37:g.17696337_17696350delACGCCTAGAGAATT	ENSP00000323074:p.Arg26fs					RAI1_ENST00000261641.6_Frame_Shift_Del_p.SRLENY25fs	p.SRLENY25fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	544_557	+			25					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	c.75_88delACGCCTAGAGAATT	CCDS11188.1																																																																																				0.556	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		11	7						11	7	---	---	---	---	-	17696350	ACGCCTAGAGAATT	-	17696337	7	5	23	1	0	1	0	1	0	0	0	0	13007	146	6	0	77	0	RAI1	17	17696337	Frame_Shift_Del	DEL	ACGCCTAGAGAATT	TCGA-QR-A6H4-01A-11D-A35D-08		17696337	63498873	14	433										
HNRNPM	4670	broad.mit.edu	37	chr19	8550556	8550556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaccgcctcgggggtgccgGcatggagcgcatgggcgcgg	20	12	0	1			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:8550556G>A	ENST00000325495.4	+	14	1285	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	HNRNPM_ENST00000348943.3_Missense_Mutation_p.G376D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	415	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGGGGTGCCGGCATGGAGCGC	0.672																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1126-1128)gGc>gAc		heterogeneous nuclear ribonucleoprotein M							89	98	95					19																	8550556		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550556G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1244G>A	19.37:g.8550556G>A	ENSP00000325376:p.Gly415Asp					HNRNPM_ENST00000325495.4_Missense_Mutation_p.G415D	p.G376D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1359	+			415					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1127G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663675	0.47572	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.15718	2.4;2.72	5.76	5.76	0.90799	.	0.148764	0.64402	D	0.000011	T	0.33147	0.0853	M	0.76170	2.325	0.58432	D	0.999998	P;D;B;B	0.64830	0.954;0.994;0.383;0.265	P;P;B;B	0.51229	0.554;0.663;0.165;0.099	T	0.02156	-1.1204	10	0.28530	T	0.3	.	18.534	0.91002	0.0:0.0:1.0:0.0	.	255;415;376;300	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	D	415;376;300	ENSP00000325376:G415D;ENSP00000325732:G376D	ENSP00000325376:G415D	G	+	2	0	HNRNPM	8456556	1.000000	0.71417	0.999000	0.59377	0.694000	0.40290	4.703000	0.61824	2.724000	0.93272	0.491000	0.48974	GGC		0.672	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	167	0	0	0	1	0	4	167					A	8550556	G	A	8550556	3	1	23	1	0	0	0	0	1	0	0	0	7271	1203	42	3	1298	3	HNRNPM	19	8550556	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08		8550556	50578427	15	434										
OR10H2	26538	broad.mit.edu	37	chr19	15839173	15839173	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgttcttctccttcagctTcggcttcacccactccttcc	5	17	4	0			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:15839173T>C	ENST00000305899.3	+	1	340	c.320T>C	c.(319-321)tTc>tCc	p.F107S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTTCAGCTTCGGCTTCACC	0.642																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(319-321)tTc>tCc		olfactory receptor, family 10, subfamily H, member 2							61	57	59					19																	15839173		2202	4277	6479	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839173T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.320T>C	19.37:g.15839173T>C	ENSP00000306095:p.Phe107Ser						p.F107S	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	340	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		107					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.320T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	12.87	2.067799	0.36470	.	.	ENSG00000171942	ENST00000305899	T	0.01287	5.05	3.4	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.03608	0.0103	M	0.77616	2.38	0.09310	N	1	P	0.52692	0.955	P	0.52267	0.694	T	0.28586	-1.0039	10	0.72032	D	0.01	.	4.4973	0.11844	0.0:0.1175:0.1962:0.6863	.	107	O60403	O10H2_HUMAN	S	107	ENSP00000306095:F107S	ENSP00000306095:F107S	F	+	2	0	OR10H2	15700173	0.001000	0.12720	0.102000	0.21198	0.550000	0.35303	1.187000	0.32090	0.243000	0.21327	0.438000	0.28831	TTC		0.642	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			22	22	0	0	0	1	0	22	22					C	15839173	T	C	15839173	3	2	23	1	0	0	0	0	1	0	0	0	10906	1783	62	4	322	4	OR10H2	19	15839173	Missense_Mutation	SNP	T	TCGA-QR-A6H4-01A-11D-A35D-08	7288617	15839173	43289810	16	435										
PRMT1	199800	broad.mit.edu	37	chr19	50189933	50189933	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actacctgaccgtgaagacgGgcgaggagatcttcggcacc	13	12	1	4			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:50189933G>T	ENST00000420022.3	+	0	0				PRMT1_ENST00000532489.1_Missense_Mutation_p.G282C|CTB-33G10.6_ENST00000596472.1_RNA|PRMT1_ENST00000454376.2_Missense_Mutation_p.G328C|PRMT1_ENST00000391851.4_Missense_Mutation_p.G310C	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)							extracellular region (GO:0005576)											CGTGAAGACGGGCGAGGAGAT	0.682																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(844-846)Ggc>Tgc		protein arginine methyltransferase 1							51	45	47					19																	50189933		2203	4300	6503	SO:0001631	upstream_gene_variant	3276					cytoplasm	protein methyltransferase activity	g.chr19:50189933G>T	BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 76", "adrenomedullin 5 homolog (pig)"	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6			19.37:g.50189933G>T	Exception_encountered					PRMT1_ENST00000391851.4_Missense_Mutation_p.G310C|PRMT1_ENST00000454376.2_Missense_Mutation_p.G328C	p.G282C			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	10	1350	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	309						Missense_Mutation	SNP	ENST00000420022.3	37	c.844G>T	CCDS46146.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.473786	0.63737	.	.	ENSG00000126457	ENST00000532489;ENST00000391851;ENST00000454376	D;D;D	0.86865	-2.18;-2.18;-2.18	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.984;0.984;0.993;0.989	D	0.95924	0.8933	10	0.87932	D	0	-16.1853	14.3935	0.66996	0.0:0.0:1.0:0.0	.	318;282;310;304	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	C	282;310;328	ENSP00000433556:G282C;ENSP00000375724:G310C;ENSP00000406162:G328C	ENSP00000375724:G310C	G	+	1	0	PRMT1	54881745	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	9.356000	0.97091	2.250000	0.74265	0.447000	0.29281	GGC		0.682	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		20	23	1	0	6.12954e-19	1	7.11817e-19	20	23					T	50189933	G	T	50189933	1	4	23	0	1	0	0	0	0	0	0	0	12535	1232	43	5		5	PRMT1	19	50189933	5'Flank	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08	34350760	50189933	8939050	17	436										
LILRB1	10859	broad.mit.edu	37	chr19	55144196	55144196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cggcccccagcgaccccctgGacatcctgatcgcaggtgag	12	17	0	2			TCGA-QR-A6H4-01A-11D-A35D-08	TCGA-QR-A6H4-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7410ae79-39b1-4022-93b3-2adc9437c57c	3d83a509-b5b1-4a16-8a99-05b4f94876b7	g.chr19:55144196G>A	ENST00000396331.1	+	7	1300	c.943G>A	c.(943-945)Gac>Aac	p.D315N	LILRB1_ENST00000396332.4_Missense_Mutation_p.D315N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D315N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D315N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D351N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D315N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D315N|LILRB1_ENST00000396317.1_Missense_Mutation_p.D315N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D315N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D315N|LILRB1_ENST00000448689.1_Missense_Mutation_p.D315N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	315	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGACCCCCTGGACATCCTGAT	0.677										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(943-945)Gac>Aac		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144196G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.943G>A	19.37:g.55144196G>A	ENSP00000379622:p.Asp315Asn	HNSCC(37;0.09)				LILRB1_ENST00000396317.1_Missense_Mutation_p.D315N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D351N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D315N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D315N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D315N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D315N|LILRB1_ENST00000448689.1_Missense_Mutation_p.D315N|LILRB1_ENST00000396332.4_Missense_Mutation_p.D315N|LILRB1_ENST00000324602.7_Missense_Mutation_p.D315N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D315N	p.D315N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1300	+			315			Ig-like C2-type 4.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.943G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478583	0.26511	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85	2.03	2.03	0.26663	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.431758	0.17093	N	0.187282	T	0.14527	0.0351	M	0.72624	2.21	0.09310	N	1	B;B;P;B;B	0.36438	0.094;0.301;0.553;0.301;0.2	B;B;B;B;B	0.39971	0.077;0.315;0.295;0.315;0.216	T	0.08269	-1.0730	10	0.51188	T	0.08	.	7.5354	0.27708	0.0:0.0:1.0:0.0	.	315;315;315;315;315	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	N	315;315;315;315;315;315;315;315;351;315;315	ENSP00000379614:D315N;ENSP00000391514:D315N;ENSP00000409968:D315N;ENSP00000379622:D315N;ENSP00000379618:D315N;ENSP00000315997:D315N;ENSP00000405243:D315N;ENSP00000379623:D315N;ENSP00000395004:D351N;ENSP00000379610:D315N;ENSP00000379608:D315N	ENSP00000315997:D315N	D	+	1	0	LILRB1	59836008	0.748000	0.28294	0.012000	0.15200	0.038000	0.13279	1.300000	0.33436	1.141000	0.42275	0.194000	0.17425	GAC		0.677	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	60	0	0	0	1	0	4	60					A	55144196	G	A	55144196	3	1	23	1	0	0	0	0	1	0	0	0	8790	1174	41	3	961	3	LILRB1	19	55144196	Missense_Mutation	SNP	G	TCGA-QR-A6H4-01A-11D-A35D-08	4954263	55144196	3984787	18	437										
ALMS1	7840	broad.mit.edu	37	chr2	73675507	73675507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactggcatgtcaactctaaCctctacttcctactcacata	3	14	4	0			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr2:73675507C>T	ENST00000264448.6	+	8	1961	c.1850C>T	c.(1849-1851)aCc>aTc	p.T617I	ALMS1_ENST00000377715.1_Missense_Mutation_p.T617I|ALMS1_ENST00000409009.1_Missense_Mutation_p.T575I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	617	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAACTCTAACCTCTACTTCC	0.463																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1849-1851)aCc>aTc		Alstrom syndrome 1							117	119	118					2																	73675507		1891	4109	6000	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675507C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1850C>T	2.37:g.73675507C>T	ENSP00000264448:p.Thr617Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.T575I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T617I	p.T617I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	1961	+			617			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.1850C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	5.684	0.310791	0.10733	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.21;3.21;2.33	3.93	-0.295	0.12828	.	1.990460	0.02273	N	0.068611	T	0.10637	0.0260	N	0.22421	0.69	0.09310	N	1	P;P;P	0.37038	0.579;0.579;0.579	B;B;B	0.34093	0.175;0.175;0.175	T	0.13764	-1.0497	10	0.32370	T	0.25	.	3.0348	0.06118	0.3618:0.4136:0.0:0.2246	.	617;575;617	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	575;617;617	ENSP00000386627:T575I;ENSP00000264448:T617I;ENSP00000366944:T617I	ENSP00000264448:T617I	T	+	2	0	ALMS1	73529015	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.436000	0.21526	-0.070000	0.12908	0.655000	0.94253	ACC		0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		28	117	0	0	0	1	0	28	117					T	73675507	C	T	73675507	3	4	24	1	0	0	0	0	1	0	0	0	535	507	18	3	1880	3	ALMS1	2	73675507	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		73675507	169523866	1	438										
VHL	7428	broad.mit.edu	37	chr3	10191489	10191489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	agtgtatactctgaaagagcGatgcctccaggttgtccgga	12	9	1	2			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr3:10191489G>A	ENST00000256474.2	+	3	1322	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.R120Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	161	Interaction with Elongin BC complex.		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040}.|R -> Q (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.R161P(4)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.C162fs*12(1)|p.?fs(1)|p.C162fs*9(1)|p.L158fs*6(1)|p.R161Q(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTGAAAGAGCGATGCCTCCAG	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		12	Substitution - Missense(5)|Deletion - Frameshift(4)|Insertion - Frameshift(2)|Deletion - In frame(1)	p.R161P(4)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.C162fs*12(1)|p.?fs(1)|p.C162fs*9(1)|p.L158fs*6(1)|p.R161Q(1)	kidney(11)|adrenal_gland(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM951290|CM961431	VHL	M		c.(481-483)cGa>cAa		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							94	85	88					3																	10191489		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10191489G>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.482G>A	3.37:g.10191489G>A	ENSP00000256474:p.Arg161Gln					VHL_ENST00000345392.2_Missense_Mutation_p.R120Q|VHL_ENST00000477538.1_3'UTR	p.R161Q	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	3	1322	+			161		R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II).	Interaction with Elongin BC complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.482G>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898538	0.91962	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99826	-6.98;-6.98	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	L	0.60455	1.87	0.46823	D	0.999215	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97408	1.0000	10	0.42905	T	0.14	-3.8766	15.8663	0.79067	0.0:0.0:1.0:0.0	.	120;161	P40337-2;P40337	.;VHL_HUMAN	Q	161;120;79	ENSP00000256474:R161Q;ENSP00000344757:R120Q	ENSP00000256474:R161Q	R	+	2	0	VHL	10166489	1.000000	0.71417	0.914000	0.36105	0.805000	0.45488	7.062000	0.76706	2.676000	0.91093	0.655000	0.94253	CGA		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		10	19	0	0	0	1	0	10	19					A	10191489	G	A	10191489	3	1	24	1	0	0	0	0	1	0	0	0	17159	1058	37	2	492	2	VHL	3	10191489	Missense_Mutation	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08		10191489	187830941	2	439										
COL11A2	1302	broad.mit.edu	37	chr6	33147561	33147561	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccacagggcccttgtcacCcccaccactgccaaaccgga	7	20	1	0			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr6:33147561C>G	ENST00000374708.4	-	11	1381	c.1123G>C	c.(1123-1125)Ggt>Cgt	p.G375R	COL11A2_ENST00000374712.1_Missense_Mutation_p.G380R|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000357486.1_Missense_Mutation_p.G440R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G461R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G414R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G354R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G401R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G435R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	461	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTGTCACCCCCACCACTG	0.637																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1381-1383)Ggt>Cgt		collagen, type XI, alpha 2							46	55	52					6																	33147561		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33147561C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1123G>C	6.37:g.33147561C>G	ENSP00000363840:p.Gly375Arg					COL11A2_ENST00000374712.1_Missense_Mutation_p.G380R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G375R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G354R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G401R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G414R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G435R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G440R	p.G461R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			13	1608	-			461			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1381G>C	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.120245	0.77323	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.91295	-2.41;-2.33;-2.36;-2.37;-2.36;-2.37;-2.46;-2.38;-2.82	4.54	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.75447	2.3	0.50467	D	0.999878	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.994;1.0	D	0.92172	0.5744	10	0.62326	D	0.03	.	8.3072	0.32049	0.0:0.8924:0.0:0.1076	.	354;375;461	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	375;461;440;435;414;401;380;354;461	ENSP00000363840:G375R;ENSP00000339915:G461R;ENSP00000350079:G440R;ENSP00000363846:G435R;ENSP00000363845:G414R;ENSP00000378623:G401R;ENSP00000363844:G380R;ENSP00000355123:G354R;ENSP00000405520:G461R	ENSP00000339915:G461R	G	-	1	0	COL11A2	33255539	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.604000	0.67626	1.137000	0.42214	0.543000	0.68304	GGT		0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			3	43	0	0	0	1	0	3	43					G	33147561	C	G	33147561	3	3	24	1	0	0	0	0	1	0	0	0	3668	623	22	5	4045	5	COL11A2	6	33147561	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		33147561	137967506	3	440										
SMARCC2	6601	broad.mit.edu	37	chr12	56578857	56578857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcataaacatttccacattgCggtccatgcgtgatggattc	8	10	1	1			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr12:56578857C>T	ENST00000267064.4	-	4	442	c.356G>A	c.(355-357)cGc>cAc	p.R119H	SMARCC2_ENST00000347471.4_Missense_Mutation_p.R119H|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.R119H|SMARCC2_ENST00000394023.3_Missense_Mutation_p.R119H|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	119					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCCACATTGCGGTCCATGCG	0.468																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(355-357)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							137	118	124					12																	56578857		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56578857C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.356G>A	12.37:g.56578857C>T	ENSP00000267064:p.Arg119His					SMARCC2_ENST00000550164.1_Missense_Mutation_p.R119H|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R119H|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.R119H	p.R119H	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		4	461	-			119					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.356G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	36	5.687984	0.96784	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	M	0.72353	2.195	0.53688	D	0.999978	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.987;0.994;0.987;0.987;0.994	T	0.50355	-0.8838	10	0.66056	D	0.02	-10.6913	18.3142	0.90213	0.0:1.0:0.0:0.0	.	8;119;124;119;119	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	H	119	ENSP00000377591:R119H;ENSP00000449396:R119H;ENSP00000302919:R119H;ENSP00000267064:R119H	ENSP00000267064:R119H	R	-	2	0	SMARCC2	54865124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.317000	0.79018	2.941000	0.99782	0.655000	0.94253	CGC		0.468	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			4	143	0	0	0	1	0	4	143					T	56578857	C	T	56578857	3	4	24	1	0	0	0	0	1	0	0	0	14776	768	27	1	3485	1	SMARCC2	12	56578857	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		56578857	77273038	4	441										
FEM1B	10116	broad.mit.edu	37	chr15	68581943	68581943	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcttattcttttcatgtgtAggtatgtcattgatggtgcc	10	6	3	1	rs111343207		TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr15:68581943A>G	ENST00000306917.4	+	2	863		c.e2-1			NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)						apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTTCATGTGTAGGTATGTCAT	0.453																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.e2-1		fem-1 homolog b (C. elegans)							55	50	52					15																	68581943		2199	4298	6497	SO:0001630	splice_region_variant	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68581943A>G		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.249-1A>G	15.37:g.68581943A>G								NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	863	+								O43146	Splice_Site	SNP	ENST00000306917.4	37		CCDS10228.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772734	0.49680	.	.	ENSG00000169018	ENST00000306917	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0888	0.72177	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FEM1B	66368997	1.000000	0.71417	0.956000	0.39512	0.984000	0.73092	8.864000	0.92294	2.149000	0.67028	0.454000	0.30748	.		0.453	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1		Intron	7	25	0	0	0	1	0	7	25					G	68581943	A	G	68581943	5	3	24	1	0	0	0	0	0	0	1	0	5810	434	15	4	253	4	FEM1B	15	68581943	Splice_Site	SNP	A	TCGA-QR-A6H5-01A-11D-A35D-08		68581943	33949449	5	442										
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	12	13	1	3	rs16962973		TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Silent_p.T90T	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75	76	75					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	117	0	0	0	1	0	6	117					T	16285491	C	T	16285491	2	4	24	1	0	0	0	0	0	0	0	1	16838	610	22	3		3	UBB	17	16285491	Silent	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		16285491	64909719	6	443										
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	126	0	0	0	1	0	4	126					C	33520392	G	C	33520392	3	2	24	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08	17234901	33520392	47674818	7	444										
C20orf85	128602	broad.mit.edu	37	chr20	56730543	56730543	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgatcaagtgtgaagaagAtctccccaccccaaagccca	8	13	2	4	rs532382153		TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr20:56730543A>G	ENST00000371168.3	+	3	231	c.170A>G	c.(169-171)gAt>gGt	p.D57G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	57										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TGTGAAGAAGATCTCCCCACC	0.493																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(169-171)gAt>gGt		chromosome 20 open reading frame 85							90	86	88					20																	56730543		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56730543A>G	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"Low in Lung Cancer 1"						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.170A>G	20.37:g.56730543A>G	ENSP00000360210:p.Asp57Gly						p.D57G	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		3	231	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		57						Missense_Mutation	SNP	ENST00000371168.3	37	c.170A>G	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562790	0.27915	.	.	ENSG00000124237	ENST00000371168	T	0.21543	2.0	4.4	0.655	0.17839	.	0.436673	0.20125	N	0.098707	T	0.09598	0.0236	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.23891	T	0.37	-2.5366	5.8338	0.18594	0.5901:0.323:0.0869:0.0	.	57	Q9H1P6	CT085_HUMAN	G	57	ENSP00000360210:D57G	ENSP00000360210:D57G	D	+	2	0	C20orf85	56163949	0.017000	0.18338	0.002000	0.10522	0.607000	0.37147	1.829000	0.39121	-0.177000	0.10690	0.460000	0.39030	GAT		0.493	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		8	44	0	0	0	1	0	8	44					G	56730543	A	G	56730543	3	3	24	1	0	0	0	0	1	0	0	0	2120	333	12	4	180	4	C20orf85	20	56730543	Missense_Mutation	SNP	A	TCGA-QR-A6H5-01A-11D-A35D-08		56730543	6294977	8	445										
CXADR	1525	broad.mit.edu	37	chr21	18937753	18937753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttgctttgcagggaagatGtgccacctccaaagagccgt	11	10	0	2			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr21:18937753G>A	ENST00000284878.7	+	7	1589	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	CXADR_ENST00000400165.1_Missense_Mutation_p.M141I|CXADR_ENST00000356275.6_Missense_Mutation_p.C73Y|CXADR_ENST00000400166.1_Missense_Mutation_p.M193I|CXADR_ENST00000400169.1_Missense_Mutation_p.V281M|CXADR_ENST00000306618.10_Missense_Mutation_p.V240M	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	281					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CAGGGAAGATGTGCCACCTCC	0.438																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(841-843)Gtg>Atg		coxsackie virus and adenovirus receptor							75	79	78					21																	18937753		2203	4300	6503	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18937753G>A	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.841G>A	21.37:g.18937753G>A	ENSP00000284878:p.Val281Met					CXADR_ENST00000400166.1_Missense_Mutation_p.M193I|CXADR_ENST00000306618.10_Missense_Mutation_p.V240M|CXADR_ENST00000400169.1_Missense_Mutation_p.V281M|CXADR_ENST00000400165.1_Missense_Mutation_p.M141I|CXADR_ENST00000356275.6_Missense_Mutation_p.C73Y	p.V281M	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	7	1589	+			281					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.841G>A	CCDS33519.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.14|19.14|19.14	3.770503|3.770503|3.770503	0.69992|0.69992|0.69992	.|.|.	.|.|.	ENSG00000154639|ENSG00000154639|ENSG00000154639	ENST00000356275|ENST00000400166;ENST00000400165|ENST00000284878;ENST00000400169;ENST00000306618	.|D;D|T;T;D	.|0.90261|0.87256	.|-2.45;-2.64|-1.07;-1.19;-2.23	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.93406|0.93406|0.93406	0.7897|0.7897|0.7897	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|B;B|D;D	0.40875|0.26845|0.89917	0.731|0.161;0.161|1.0;1.0	B|B;B|D;D	0.43478|0.24394|0.91635	0.421|0.053;0.053|0.999;0.991	D|D|D	0.92793|0.92793|0.92793	0.6250|0.6250|0.6250	7|8|9	0.72032|0.35671|0.44086	D|T|T	0.01|0.21|0.13	.|.|.	18.3313|18.3313|18.3313	0.90270|0.90270|0.90270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	73|141;193|281;281	P78310-3|P78310-4;P78310-5|B7WPI3;P78310	.|.;.|.;CXAR_HUMAN	Y|I|M	73|193;141|281;281;240	.|ENSP00000383030:M193I;ENSP00000383029:M141I|ENSP00000284878:V281M;ENSP00000383033:V281M;ENSP00000303395:V240M	ENSP00000348620:C73Y|ENSP00000383029:M141I|ENSP00000284878:V281M	C|M|V	+|+|+	2|3|1	0|0|0	CXADR|CXADR|CXADR	17859624|17859624|17859624	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.738000|0.738000|0.738000	0.30950|0.30950|0.30950	0.564000|0.564000|0.564000	0.35744|0.35744|0.35744	9.132000|9.132000|9.132000	0.94455|0.94455|0.94455	2.644000|2.644000|2.644000	0.89710|0.89710|0.89710	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	TGT|ATG|GTG		0.438	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			13	52	0	0	0	1	0	13	52					A	18937753	G	A	18937753	3	1	24	1	0	0	0	0	1	0	0	0	4076	1377	48	3	867	3	CXADR	21	18937753	Missense_Mutation	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08		18937753	29192142	9	446										
SIK1	150094	broad.mit.edu	37	chr21	44837473	44837473	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccagccctcccggctgccGgctgcgccgccgtgcaggcc	13	21	0	0			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chr21:44837473G>A	ENST00000270162.6	-	13	2058	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	642					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCCGGCTGCCGGCTGCGCCGC	0.756																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(1924-1926)gcC>gcT		salt-inducible kinase 1							7	10	9					21																	44837473		2089	4063	6152	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44837473G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1926C>T	21.37:g.44837473G>A							p.A642A	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			13	2058	-			642					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.1926C>T	CCDS33575.1																																																																																				0.756	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		4	7	0	0	0	1	0	4	7					A	44837473	G	A	44837473	2	1	24	1	0	0	0	0	0	0	0	1	14317	1103	39	2		2	SIK1	21	44837473	Silent	SNP	G	TCGA-QR-A6H5-01A-11D-A35D-08	25899720	44837473	3292422	10	447										
SPANXN2	494119	broad.mit.edu	37	chrX	142795397	142795397	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcgtcctcctgtgaagatCcttcagctgagtctaggcct	9	13	2	3			TCGA-QR-A6H5-01A-11D-A35D-08	TCGA-QR-A6H5-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03b4fb36-83b8-4482-9847-313f5b25fe61	61abdecd-d8a4-4784-a6e9-c4ff8e355a37	g.chrX:142795397C>A	ENST00000370498.1	-	2	1034	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	94								p.G94V(1)|p.I76I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGCTGA	0.502																																						ENST00000370498.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G94V(1)|p.I76I(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(280-282)gGa>gTa		SPANX family, member N2							328	296	307					X																	142795397		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795397C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.281G>T	X.37:g.142795397C>A	ENSP00000359529:p.Gly94Val						p.G94V	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1034	-	Acute lymphoblastic leukemia(192;6.56e-05)		94					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.281G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.261648	0.00262	.	.	ENSG00000203924	ENST00000370498	T	0.07021	3.23	0.628	-1.26	0.09376	.	.	.	.	.	T	0.03783	0.0107	L	0.36672	1.1	0.09310	N	1	P	0.42456	0.78	B	0.33454	0.164	T	0.39563	-0.9608	8	0.11182	T	0.66	.	.	.	.	.	94	Q5MJ10	SPXN2_HUMAN	V	94	ENSP00000359529:G94V	ENSP00000359529:G94V	G	-	2	0	SPANXN2	142623063	0.993000	0.37304	0.000000	0.03702	0.000000	0.00434	1.462000	0.35266	-2.912000	0.00307	-3.171000	0.00057	GGA		0.502	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		7	471	1	0	5.18039e-06	1	5.75599e-06	7	471					A	142795397	C	A	142795397	3	1	24	1	0	0	0	0	1	0	0	0	14991	855	30	5	265	5	SPANXN2	23	142795397	Missense_Mutation	SNP	C	TCGA-QR-A6H5-01A-11D-A35D-08		142795397	12475163	11	448										
HRNR	388697	broad.mit.edu	37	chr1	152192788	152192788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagccagtcccatgttggccGgagctgggagactgccctga	14	12	0	2			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1315-1317)tcC>tcT		hornerin							93	97	96					1																	152192788		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192788G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1317C>T	1.37:g.152192788G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S439S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1392	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		439					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1317C>T	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	131	0	0	0	1	0	4	131					A	152192788	G	A	152192788	2	1	25	1	0	0	0	0	0	0	0	1	7359	1103	39	2		2	HRNR	1	152192788	Silent	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		152192788	97057833	1	449										
SHC1	6464	broad.mit.edu	37	chr1	154940727	154940727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattgcatgtggtggttggCgatgatctgagaattagggc	16	4	1	3			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr1:154940727C>T	ENST00000368445.5	-	5	971	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000368453.4_Missense_Mutation_p.A143T|SHC1_ENST00000448116.2_Missense_Mutation_p.A253T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368450.1_Missense_Mutation_p.A143T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	253	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTGGTTGGCGATGATCTGA	0.567																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(757-759)Gcc>Acc		SHC (Src homology 2 domain containing) transforming protein 1							242	237	239					1																	154940727		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940727C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.757G>A	1.37:g.154940727C>T	ENSP00000357430:p.Ala253Thr					SHC1_ENST00000368450.1_Missense_Mutation_p.A143T|SHC1_ENST00000368445.5_Missense_Mutation_p.A253T|SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T|SHC1_ENST00000368453.4_Missense_Mutation_p.A143T	p.A253T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	977	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		253			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.757G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539305	0.96474	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000444179	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.97	4.97	0.65823	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.122077	0.53938	D	0.000053	T	0.45796	0.1360	M	0.90650	3.135	0.80722	D	1	D;P;P	0.76494	0.999;0.875;0.897	P;P;P	0.62435	0.902;0.692;0.502	T	0.56559	-0.7959	10	0.59425	D	0.04	-21.1739	18.4191	0.90582	0.0:1.0:0.0:0.0	.	32;253;253	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	253;253;54;143;143;189;24	ENSP00000357430:A253T;ENSP00000401303:A253T;ENSP00000357434:A54T;ENSP00000357438:A143T;ENSP00000357435:A143T;ENSP00000398864:A24T	ENSP00000357428:A189T	A	-	1	0	SHC1	153207351	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.307000	0.78920	2.574000	0.86865	0.563000	0.77884	GCC		0.567	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	279	0	0	0	1	0	5	279					T	154940727	C	T	154940727	3	4	25	1	0	0	0	0	1	0	0	0	14270	768	27	1	1029	1	SHC1	1	154940727	Missense_Mutation	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08	2747939	154940727	94309894	2	450										
STK11IP	114790	broad.mit.edu	37	chr2	220466101	220466101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gccctcccatcctgccgactCccctgttattcttcagcttc	5	19	2	0			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr2:220466101C>T	ENST00000456909.1	+	3	296	c.206C>T	c.(205-207)tCc>tTc	p.S69F	STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	80					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCCGACTCCCCTGTTATT	0.567																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(205-207)tCc>tTc		serine/threonine kinase 11 interacting protein							62	65	64					2																	220466101		2088	4228	6316	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220466101C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.206C>T	2.37:g.220466101C>T	ENSP00000389383:p.Ser69Phe					STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F|STK11IP_ENST00000459692.1_3'UTR	p.S69F			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	296	+		Renal(207;0.0183)	80					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.206C>T		.	.	.	.	.	.	.	.	.	.	C	15.28	2.787082	0.49997	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.06687	3.28;3.27	4.83	4.83	0.62350	.	0.142496	0.44688	D	0.000427	T	0.23410	0.0566	L	0.55743	1.74	0.51767	D	0.999936	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.76071	0.98;0.923;0.974;0.987;0.981	T	0.00169	-1.1962	10	0.87932	D	0	-19.9789	13.4775	0.61316	0.0:0.843:0.157:0.0	.	80;80;69;80;80	B4DUE4;B4DII2;E7ERV2;Q8N1F8-2;Q8N1F8	.;.;.;.;S11IP_HUMAN	F	69;80;80	ENSP00000389383:S69F;ENSP00000295641:S80F	ENSP00000295641:S80F	S	+	2	0	STK11IP	220174345	1.000000	0.71417	0.937000	0.37676	0.120000	0.20174	5.275000	0.65575	2.511000	0.84671	0.650000	0.86243	TCC		0.567	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		5	37	0	0	0	1	0	5	37					T	220466101	C	T	220466101	3	4	25	1	0	0	0	0	1	0	0	0	15287	855	30	3	249	3	STK11IP	2	220466101	Missense_Mutation	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		220466101	22733272	3	451										
RASL11B	65997	broad.mit.edu	37	chr4	53731672	53731672	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	acccggctgcctgtggtggtCgtggccaacaaagctgacct	13	13	0	1			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr4:53731672C>T	ENST00000248706.3	+	4	665	c.447C>T	c.(445-447)gtC>gtT	p.V149V	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTGTGGTGGTCGTGGCCAACA	0.547																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(445-447)gtC>gtT		RAS-like, family 11, member B							108	100	103					4																	53731672		2203	4300	6503	SO:0001819	synonymous_variant	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731672C>T	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.447C>T	4.37:g.53731672C>T						RASL11B_ENST00000505041.1_3'UTR	p.V149V	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	665	+			149			Small GTPase-like.			Silent	SNP	ENST00000248706.3	37	c.447C>T	CCDS3490.1																																																																																				0.547	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		5	138	0	0	0	1	0	5	138					T	53731672	C	T	53731672	2	4	25	1	0	0	0	0	0	0	0	1	13082	871	31	2		2	RASL11B	4	53731672	Silent	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		53731672	137422604	4	452										
HEATR7B2	133558	broad.mit.edu	37	chr5	41038870	41038870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccatgaagagacaggacttGggatatgatatcttgattaa	11	5	1	4	rs202186507		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr5:41038870G>T	ENST00000399564.4	-	21	2632	c.2182C>A	c.(2182-2184)Caa>Aaa	p.Q728K	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q283K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	728																	GACAGGACTTGGGATATGATA	0.517																																						ENST00000399564.4																			0											c.(2182-2184)Caa>Aaa		maestro heat-like repeat family member 2B							66	67	67					5																	41038870		1948	4146	6094	SO:0001583	missense	133558							g.chr5:41038870G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2182C>A	5.37:g.41038870G>T	ENSP00000382476:p.Gln728Lys					MROH2B_ENST00000506092.2_Missense_Mutation_p.Q283K	p.Q728K	NM_173489.4	NP_775760.3					21	2632	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2182C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.791127	0.16258	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05996	3.36;3.36	5.73	5.73	0.89815	Armadillo-type fold (1);	0.270105	0.26796	N	0.022444	T	0.04137	0.0115	N	0.15975	0.35	0.31701	N	0.640711	P	0.36837	0.571	B	0.35770	0.21	T	0.10314	-1.0635	10	0.05721	T	0.95	.	15.7506	0.77983	0.0:0.0:1.0:0.0	.	728	Q7Z745	HTRB2_HUMAN	K	283;433;728	ENSP00000441504:Q283K;ENSP00000382476:Q728K	ENSP00000296803:Q433K	Q	-	1	0	HEATR7B2	41074627	0.998000	0.40836	0.975000	0.42487	0.116000	0.19942	3.036000	0.49767	2.861000	0.98227	0.655000	0.94253	CAA		0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	33	1	0	0.115264	1	0.115264	3	33					T	41038870	G	T	41038870	3	4	25	1	0	0	0	0	1	0	0	0	7035	1357	47	5	2663	5	HEATR7B2	5	41038870	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		41038870	139876390	5	453										
ZNF323	64288	broad.mit.edu	37	chr6	28294493	28294493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgctgcttttctgccttgCtgtctcgtttacaagtttct	7	12	3	0			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:28294493C>T	ENST00000414429.1	-	8	1574	c.671G>A	c.(670-672)aGc>aAc	p.S224N	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S224N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S224N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S224N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S65N|ZSCAN31_ENST00000481934.1_5'UTR			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	224					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTGCCTTGCTGTCTCGTTT	0.423																																						ENST00000414429.1																			0											c.(670-672)aGc>aAc		zinc finger and SCAN domain containing 31							135	128	131					6																	28294493		2203	4300	6503	SO:0001583	missense	64288							g.chr6:28294493C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.671G>A	6.37:g.28294493C>T	ENSP00000390076:p.Ser224Asn					ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S224N|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S65N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S224N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S224N	p.S224N							8	1574	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.671G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	5.059	0.196595	0.09599	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431	T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.43;5.83	4.13	0.973	0.19710	.	.	.	.	.	T	0.01661	0.0053	L	0.39397	1.21	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45440	-0.9261	9	0.32370	T	0.25	.	6.5351	0.22348	0.3082:0.5959:0.0:0.0959	.	224	Q96LW9	ZN323_HUMAN	N	224;224;224;65;224;65;65	ENSP00000380050:S224N;ENSP00000413705:S224N;ENSP00000390076:S224N;ENSP00000402937:S65N;ENSP00000345339:S224N;ENSP00000391235:S65N;ENSP00000407529:S65N	ENSP00000345339:S224N	S	-	2	0	ZNF323	28402472	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.315000	0.08081	0.292000	0.22492	-0.518000	0.04402	AGC		0.423	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		6	124	0	0	0	1	0	6	124					T	28294493	C	T	28294493	3	4	25	1	0	0	0	0	1	0	0	0	17840	797	28	3	553	3	ZNF323	6	28294493	Missense_Mutation	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		28294493	142820574	6	454										
COL21A1	81578	broad.mit.edu	37	chr6	56044743	56044743	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tctcctgaatcatagcttccGagaggaatctccagcacagg	9	12	3	2	rs182718262		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:56044743G>A	ENST00000244728.5	-	3	670	c.273C>T	c.(271-273)ctC>ctT	p.L91L	COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	91	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATAGCTTCCGAGAGGAATCT	0.453													G|||	1	0.000199681	0	0	5008	,	,		19698	0		0.001	False		,,,				2504	0					ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(271-273)ctC>ctT		collagen, type XXI, alpha 1							63	61	61					6																	56044743		1894	4118	6012	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044743G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.273C>T	6.37:g.56044743G>A						COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L	p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	670	-	Lung NSC(77;0.0483)		91			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.273C>T	CCDS55025.1																																																																																				0.453	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			9	22	0	0	0	1	0	9	22					A	56044743	G	A	56044743	2	1	25	1	0	0	0	0	0	0	0	1	3680	1045	37	2		2	COL21A1	6	56044743	Silent	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08	27750250	56044743	115070324	7	455										
RBM16	22828	broad.mit.edu	37	chr6	155154083	155154083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	atgaagaaagaggtagatttCggtctggaaactatcgattt	11	4	1	4			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:155154083C>T	ENST00000367178.3	+	20	3946	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.R1124W|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1190W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1124	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGTAGATTTCGGTCTGGAAA	0.478																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(3370-3372)Cgg>Tgg		SR-related CTD-associated factor 8							75	82	80					6																	155154083		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155154083C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3370C>T	6.37:g.155154083C>T	ENSP00000356146:p.Arg1124Trp					SCAF8_ENST00000417268.1_Missense_Mutation_p.R1124W|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1190W	p.R1124W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	3946	+			1124			Arg-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.3370C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109876	0.56398	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.47869	0.85;0.85;0.83	5.79	4.84	0.62591	.	0.852335	0.09913	U	0.739508	T	0.48390	0.1497	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.64687	0.928;0.928;0.874	T	0.52193	-0.8608	10	0.66056	D	0.02	.	17.566	0.87920	0.132:0.868:0.0:0.0	.	1169;1190;1124	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	W	1124;1124;1190;85	ENSP00000356146:R1124W;ENSP00000413098:R1124W;ENSP00000356154:R1190W	ENSP00000356146:R1124W	R	+	1	2	TIAM2;SCAF8	155195775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.233000	0.58651	2.726000	0.93360	0.655000	0.94253	CGG		0.478	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		23	39	0	0	0	1	0	23	39					T	155154083	C	T	155154083	3	4	25	1	0	0	0	0	1	0	0	0	13118	875	31	2	3448	2	RBM16	6	155154083	Missense_Mutation	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08	99109340	155154083	15960984	8	456										
WBSCR17	64409	broad.mit.edu	37	chr7	71142222	71142222	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaacaaggcaaaagacgtCtgcttggaccaggggccgct	12	11	1	1			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr7:71142222C>A	ENST00000333538.5	+	9	2065	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	477	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAAAGACGTCTGCTTGGACC	0.542																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1429-1431)gtC>gtA		Williams-Beuren syndrome chromosome region 17							234	232	232					7																	71142222		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142222C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1431C>A	7.37:g.71142222C>A						WBSCR17_ENST00000498380.2_3'UTR	p.V477V	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			9	2065	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	477			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1431C>A	CCDS5540.1																																																																																				0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		5	262	1	0	2.0095e-06	1	2.08127e-06	5	262					A	71142222	C	A	71142222	2	1	25	1	0	0	0	0	0	0	0	1	17261	900	32	5		5	WBSCR17	7	71142222	Silent	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		71142222	87996441	9	457										
CDKN2A	1029	broad.mit.edu	37	chr9	21970988	21970988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	caggtaccgtgcgacatcgcGatggcccagctcctcagcca	11	16	1	0	rs34170727	byFrequency	TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr9:21970988G>A	ENST00000304494.5	-	2	640	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000530628.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	124			R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGACATCGCGATGGCCCAGC	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			G|||	4	0.000798722	0	0	5008	,	,		6904	0		0.001	False		,,,				2504	0.0031					ENST00000304494.5		17																	1333	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(4)	p.0?(1315)|p.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(49)|upper_aerodigestive_tract(48)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM056562	CDKN2A	M	rs34170727	c.(370-372)Cgc>Tgc		cyclin-dependent kinase inhibitor 2A							27	29	29					9																	21970988		2202	4298	6500	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21970988G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.370C>T	9.37:g.21970988G>A	ENSP00000307101:p.Arg124Cys	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73C	p.R124C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	640	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	124		R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.370C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134560	0.09032	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.93859	-3.3;-3.3	5.93	1.0	0.19881	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.87493	0.6191	L	0.50847	1.595	0.39731	D	0.971609	B	0.16396	0.017	B	0.08055	0.003	T	0.77122	-0.2704	9	0.44086	T	0.13	-3.998	1.7222	0.02914	0.292:0.1279:0.4484:0.1317	rs34170727	124	P42771	CD2A1_HUMAN	C	124	ENSP00000307101:R124C;ENSP00000394932:R124C	ENSP00000307101:R124C	R	-	1	0	CDKN2A	21960988	0.005000	0.15991	0.030000	0.17652	0.027000	0.11550	-0.044000	0.12023	-0.074000	0.12820	-0.812000	0.03155	CGC		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	21	0	0	0	1	0	21	21					A	21970988	G	A	21970988	3	1	25	1	0	0	0	0	1	0	0	0	3161	1058	37	2	108	2	CDKN2A	9	21970988	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		21970988	119242443	10	458										
GOLGA1	2800	broad.mit.edu	37	chr9	127674230	127674230	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgataagttctgttctaGtctcttctccaaggatgcaa	7	10	4	1			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr9:127674230G>C	ENST00000373555.4	-	11	1252	c.919C>G	c.(919-921)Cta>Gta	p.L307V		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	307					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCTGTTCTAGTCTCTTCTCC	0.453																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(919-921)Cta>Gta		golgin A1							239	211	220					9																	127674230		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127674230G>C	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.919C>G	9.37:g.127674230G>C	ENSP00000362656:p.Leu307Val						p.L307V	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			11	1252	-			307					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.919C>G	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463920	0.63513	.	.	ENSG00000136935	ENST00000373555	T	0.78595	-1.19	5.84	2.97	0.34412	.	0.000000	0.34435	U	0.003972	D	0.84151	0.5409	M	0.76002	2.32	0.53688	D	0.999975	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.81829	-0.0753	10	0.49607	T	0.09	-4.5618	5.8189	0.18516	0.2241:0.1441:0.6318:0.0	.	206;307	Q59HA1;Q92805	.;GOGA1_HUMAN	V	307	ENSP00000362656:L307V	ENSP00000362656:L307V	L	-	1	2	GOLGA1	126714051	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.736000	0.26130	0.806000	0.34183	0.643000	0.83706	CTA		0.453	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		7	66	0	0	0	1	0	7	66					C	127674230	G	C	127674230	3	2	25	1	0	0	0	0	1	0	0	0	6551	1020	36	5	1436	5	GOLGA1	9	127674230	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08	105703242	127674230	13539201	11	459										
NUMA1	10068	broad.mit.edu	37	chr11	71715362	71715362	+	IGR	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ctcggggagtcatggggcgtGggaaacagctggtggccttc							TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr11:71715362delG	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs|NUMA1_ENST00000393695.3_Frame_Shift_Del_p.P2011fs	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CATGGGGCGTGGGAAACAGCT	0.542																																						ENST00000393695.3										T					RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(6031-6033)cafs		nuclear mitotic apparatus protein 1							146	136	140					11																	71715362		2200	4293	6493	SO:0001628	intergenic_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715362delG	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715362delG						NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs	p.P2011fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			25	6363	-			2011					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Frame_Shift_Del	DEL	ENST00000393703.4	37	c.6032delC	CCDS8206.2																																																																																				0.542	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		21	49						21	49	---	---	---	---	-	71715362	G	-	71715362	6	5	25	0	1	1	0	1	0	0	0	0	10750	1348	47	0		0	NUMA1	11	71715362	IGR	DEL	G	TCGA-QR-A6H6-01A-11D-A35D-08		71715362	63291154	12	460										
OR6T1	219874	broad.mit.edu	37	chr11	123814297	123814297	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tgatcccccgtgaggatgacGacaagcatcttgggaaccac	11	12	1	3	rs371540555		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr11:123814297G>A	ENST00000321252.2	-	1	283	c.249C>T	c.(247-249)gtC>gtT	p.V83V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V83V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGGATGACGACAAGCATCT	0.507																																						ENST00000321252.2																			1	Substitution - coding silent(1)	p.V83V(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(247-249)gtC>gtT		olfactory receptor, family 6, subfamily T, member 1		G		2,4402	4.2+/-10.8	0,2,2200	123	103	110		249	-0.4	0	11		110	1,8597		0,1,4298	no	coding-synonymous	OR6T1	NM_001005187.1		0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231		83/324	123814297	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814297G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.249C>T	11.37:g.123814297G>A							p.V83V	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	283	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	83					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.249C>T	CCDS31700.1																																																																																				0.507	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		4	75	0	0	0	1	0	4	75					A	123814297	G	A	123814297	2	1	25	1	0	0	0	0	0	0	0	1	11210	1045	37	2		2	OR6T1	11	123814297	Silent	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08	52098935	123814297	11192219	13	461										
TEAD4	7004	broad.mit.edu	37	chr12	3131089	3131089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcgaagccgtggacatccGccaaatctatgacaaattcc	7	14	1	1			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr12:3131089G>A	ENST00000397122.2	+	8	701	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TEAD4_ENST00000359864.2_Missense_Mutation_p.R268H|TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	268					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTGGACATCCGCCAAATCTAT	0.527																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(802-804)cGc>cAc		TEA domain family member 4							142	144	143					12																	3131089		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3131089G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.416G>A	12.37:g.3131089G>A	ENSP00000380311:p.Arg139His					TEAD4_ENST00000397122.2_Missense_Mutation_p.R139H|TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H	p.R268H	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		10	993	+	Ovarian(42;0.211)		268					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.803G>A	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986426	0.35036	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.35236	1.32;1.32;1.32	4.19	1.08	0.20341	.	0.423325	0.25068	N	0.033385	T	0.38878	0.1057	M	0.82517	2.595	0.58432	D	0.999995	B	0.11235	0.004	B	0.04013	0.001	T	0.39901	-0.9591	10	0.66056	D	0.02	-10.1873	9.3324	0.38030	0.2884:0.0:0.7116:0.0	.	268	Q15561	TEAD4_HUMAN	H	225;268;139	ENSP00000351184:R225H;ENSP00000352926:R268H;ENSP00000380311:R139H	ENSP00000351184:R225H	R	+	2	0	TEAD4	3001350	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	3.876000	0.56115	0.426000	0.26116	-0.136000	0.14681	CGC		0.527	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		5	151	0	0	0	1	0	5	151					A	3131089	G	A	3131089	3	1	25	1	0	0	0	0	1	0	0	0	15738	1087	38	1	833	1	TEAD4	12	3131089	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		3131089	130720806	14	462										
DIS3L	115752	broad.mit.edu	37	chr15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgggatgaaggctcgaaaccGctcaattcatggagatgtgg	14	8	2	2	rs200076422		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr15:66607419G>A	ENST00000319212.4	+	7	910	c.860G>A	c.(859-861)cGc>cAc	p.R287H	DIS3L_ENST00000319194.5_Missense_Mutation_p.R204H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	287					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTCGAAACCGCTCAATTCAT	0.478																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(610-612)cGc>cAc		DIS3 mitotic control homolog (S. cerevisiae)-like							144	125	131					15																	66607419		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66607419G>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.860G>A	15.37:g.66607419G>A	ENSP00000321711:p.Arg287His					DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H	p.R204H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			7	872	+			287					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.611G>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664037	0.96745	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212	T;T;T	0.36699	1.24;1.24;1.24	5.34	5.34	0.76211	.	0.156269	0.56097	D	0.000038	T	0.72566	0.3476	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81061	-0.1103	10	0.66056	D	0.02	-15.751	18.3807	0.90449	0.0:0.0:1.0:0.0	.	287;287	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	H	204;153;287	ENSP00000321583:R204H;ENSP00000388980:R153H;ENSP00000321711:R287H	ENSP00000321583:R204H	R	+	2	0	DIS3L	64394473	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.386000	0.97228	2.655000	0.90218	0.561000	0.74099	CGC		0.478	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		4	100	0	0	0	1	0	4	100					A	66607419	G	A	66607419	3	1	25	1	0	0	0	0	1	0	0	0	4536	1087	38	1	886	1	DIS3L	15	66607419	Missense_Mutation	SNP	G	TCGA-QR-A6H6-01A-11D-A35D-08		66607419	35923973	15	463										
FKBP8	23770	broad.mit.edu	37	chr19	18648510	18648510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagtggtcgagcttcagctgCgaggccgccaggttgttcag	15	10	2	0	rs146804732	byFrequency	TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr19:18648510C>T	ENST00000596558.2	-	6	952	c.843G>A	c.(841-843)tcG>tcA	p.S281S	FKBP8_ENST00000222308.4_Silent_p.S281S|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000610101.1_Silent_p.S122S|FKBP8_ENST00000597960.3_Silent_p.S282S|FKBP8_ENST00000608443.1_Silent_p.S282S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	281					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCTTCAGCTGCGAGGCCGCCA	0.617													C|||	3	0.000599042	0.0023	0	5008	,	,		18452	0		0	False		,,,				2504	0					ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(844-846)tcG>tcA		FK506 binding protein 8, 38kDa		C		4,4402	8.1+/-20.4	0,4,2199	83	65	71		846	-9.3	0.2	19	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	FKBP8	NM_012181.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		282/414	18648510	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648510C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.843G>A	19.37:g.18648510C>T						FKBP8_ENST00000222308.3_Silent_p.S282S|FKBP8_ENST00000544835.2_Silent_p.S122S|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000596558.1_Silent_p.S281S	p.S282S			Q14318	FKBP8_HUMAN			6	966	-			281					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.846G>A																																																																																					0.617	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		22	62	0	0	0	1	0	22	62					T	18648510	C	T	18648510	2	4	25	1	0	0	0	0	0	0	0	1	5914	755	27	1		1	FKBP8	19	18648510	Silent	SNP	C	TCGA-QR-A6H6-01A-11D-A35D-08		18648510	40480473	16	464										
PREX1	57580	broad.mit.edu	37	chr20	47444201	47444201	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	actgcaagaagcgcaaggtgCccacgtagtccctctcggtg							TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr20:47444201delC	ENST00000371941.3	-	1	219	c.197delG	c.(196-198)ggcfs	p.G66fs	PREX1_ENST00000396220.1_Frame_Shift_Del_p.G66fs	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	66	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGCAAGGTGCCCACGTAGTC	0.716																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(196-198)gcfs		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							12	15	14					20																	47444201		2190	4290	6480	SO:0001589	frameshift_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47444201delC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.197delG	20.37:g.47444201delC	ENSP00000361009:p.Gly66fs					PREX1_ENST00000371941.3_Frame_Shift_Del_p.G66fs	p.G66fs			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		1	219	-			66			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Frame_Shift_Del	DEL	ENST00000371941.3	37	c.197delG	CCDS13410.1																																																																																				0.716	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		2	4						2	4	---	---	---	---	-	47444201	C	-	47444201	7	5	25	1	0	1	0	1	0	0	0	0	12476	739	26	0	4942	0	PREX1	20	47444201	Frame_Shift_Del	DEL	C	TCGA-QR-A6H6-01A-11D-A35D-08		47444201	15581319	17	465										
DNASE2B	58511	broad.mit.edu	37	chr1	84878060	84878060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcttggtctgcaaccccaaCgtctatagctgctccatccc	6	17	3	0			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr1:84878060C>T	ENST00000370665.3	+	5	609	c.576C>T	c.(574-576)aaC>aaT	p.N192N	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	192					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCAACCCCAACGTCTATAGCT	0.478																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(574-576)aaC>aaT		deoxyribonuclease II beta							81	82	82					1																	84878060		2203	4300	6503	SO:0001819	synonymous_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84878060C>T	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.576C>T	1.37:g.84878060C>T						DNASE2B_ENST00000370662.3_5'UTR	p.N192N	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	5	609	+			192					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	c.576C>T	CCDS44167.1																																																																																				0.478	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		15	34	0	0	0	1	0	15	34					T	84878060	C	T	84878060	2	4	26	1	0	0	0	0	0	0	0	1	4665	535	19	1		1	DNASE2B	1	84878060	Silent	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		84878060	164372561	1	466										
RGS8	85397	broad.mit.edu	37	chr1	182635109	182635109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgaattctacttacacttaTgagagagaagcacatcaaag	7	8	2	3			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr1:182635109T>C	ENST00000483095.2	-	5	445	c.188A>G	c.(187-189)cAt>cGt	p.H63R	RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R|RGS8_ENST00000367556.1_Missense_Mutation_p.H63R			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	63	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTTACACTTATGAGAGAGAAG	0.393																																					Ovarian(189;1262 3804 41973)	ENST00000483095.2																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						c.(187-189)cAt>cGt		regulator of G-protein signaling 8							175	175	175					1																	182635109		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182635109T>C	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.188A>G	1.37:g.182635109T>C	ENSP00000426289:p.His63Arg					RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.H81R|RGS8_ENST00000367556.1_Missense_Mutation_p.H63R|RGS8_ENST00000367557.4_Missense_Mutation_p.H63R	p.H63R			P57771	RGS8_HUMAN			5	445	-			63			RGS.		B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.188A>G	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175834	0.57692	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.47	5.47	0.80525	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.051141	0.85682	D	0.000000	T	0.33440	0.0863	L	0.58101	1.795	0.41652	D	0.989137	P;P	0.48694	0.914;0.904	B;B	0.42495	0.309;0.389	T	0.21861	-1.0233	10	0.59425	D	0.04	.	13.0605	0.59003	0.0:0.0:0.0:1.0	.	63;81	P57771;P57771-2	RGS8_HUMAN;.	R	63;81;63;63	ENSP00000426289:H63R;ENSP00000258302:H81R;ENSP00000356528:H63R;ENSP00000356527:H63R	ENSP00000258302:H81R	H	-	2	0	RGS8	180901732	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.848000	0.62874	2.070000	0.61991	0.533000	0.62120	CAT		0.393	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		4	112	0	0	0	1	0	4	112					C	182635109	T	C	182635109	3	2	26	1	0	0	0	0	1	0	0	0	13312	1464	51	4	366	4	RGS8	1	182635109	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08	97757049	182635109	66615512	2	467										
ALK	238	broad.mit.edu	37	chr2	29551323	29551323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aagtgaaggagctctgcaggGccatcttggagcctggggat	16	8	2	1			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr2:29551323G>A	ENST00000389048.3	-	6	2213	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	436					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A436V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTCTGCAGGGCCATCTTGGA	0.592			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	1	Substitution - Missense(1)	p.A436V(1)	large_intestine(1)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1306-1308)gCc>gTc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						78	70	73					2																	29551323		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29551323G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1307C>T	2.37:g.29551323G>A	ENSP00000373700:p.Ala436Val					ALK_ENST00000431873.1_Intron	p.A436V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			6	2213	-	Acute lymphoblastic leukemia(172;0.155)		436					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1307C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.267837	0.80469	.	.	ENSG00000171094	ENST00000389048	T	0.77620	-1.11	5.2	5.2	0.72013	.	0.000000	0.47455	U	0.000222	T	0.62539	0.2436	N	0.24115	0.695	0.80722	D	1	B	0.32071	0.355	B	0.23419	0.046	T	0.61242	-0.7102	9	.	.	.	.	14.2651	0.66113	0.0:0.0:1.0:0.0	.	436	Q9UM73	ALK_HUMAN	V	436	ENSP00000373700:A436V	.	A	-	2	0	ALK	29404827	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.300000	0.59079	2.445000	0.82738	0.394000	0.25966	GCC		0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	31	0	0	0	1	0	3	31					A	29551323	G	A	29551323	3	1	26	1	0	0	0	0	1	0	0	0	525	1203	42	3	3651	3	ALK	2	29551323	Missense_Mutation	SNP	G	TCGA-QR-A6ZZ-01A-11D-A35D-08		29551323	213648050	3	468										
CACNA2D3	55799	broad.mit.edu	37	chr3	54871235	54871235	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaccactgtagccatgcctgTgtttagtaagcagaacgaaa	10	9	0	1			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr3:54871235T>C	ENST00000474759.1	+	15	1496	c.1448T>C	c.(1447-1449)gTg>gCg	p.V483A	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	483	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GCCATGCCTGTGTTTAGTAAG	0.542																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(1447-1449)gTg>gCg		calcium channel, voltage-dependent, alpha 2/delta subunit 3							209	204	206					3																	54871235		2006	4176	6182	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54871235T>C	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1448T>C	3.37:g.54871235T>C	ENSP00000419101:p.Val483Ala					CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V483A|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V483A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V389A	p.V483A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	15	1496	+			483			Cache.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1448T>C	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720671	0.89205	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12984	2.63;2.63;2.63;2.66	6.06	6.06	0.98353	Cache (1);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.81497	2.545	0.47511	D	0.999443	D	0.57899	0.981	D	0.72338	0.977	T	0.18023	-1.0350	10	0.48119	T	0.1	0.0	15.1804	0.72952	0.0:0.0:0.0:1.0	.	483	Q8IZS8	CA2D3_HUMAN	A	483;483;483;389;389;382	ENSP00000389506:V483A;ENSP00000419101:V483A;ENSP00000288197:V483A;ENSP00000417279:V389A	ENSP00000288197:V483A	V	+	2	0	CACNA2D3	54846275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.119000	0.77145	2.324000	0.78689	0.533000	0.62120	GTG		0.542	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	76	0	0	0	1	0	4	76					C	54871235	T	C	54871235	3	2	26	1	0	0	0	0	1	0	0	0	2550	1696	59	4	1506	4	CACNA2D3	3	54871235	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		54871235	143151195	4	469										
YEATS2	55689	broad.mit.edu	37	chr3	183504057	183504057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caactgccacttcccctgccGtggccctctcagcaaacggt	8	18	1	0	rs187815385		TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr3:183504057G>A	ENST00000305135.5	+	20	3076	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	961					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCCCCTGCCGTGGCCCTCTC	0.517													G|||	1	0.000199681	0	0	5008	,	,		18407	0.001		0	False		,,,				2504	0					ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2881-2883)Gtg>Atg		YEATS domain containing 2		G	MET/VAL	2,4018		0,2,2008	68	69	69		2881	2.1	0.2	3		69	0,8356		0,0,4178	no	missense	YEATS2	NM_018023.4	21	0,2,6186	AA,AG,GG		0.0,0.0498,0.0162	probably-damaging	961/1423	183504057	2,12374	2010	4178	6188	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183504057G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2881G>A	3.37:g.183504057G>A	ENSP00000306983:p.Val961Met						p.V961M	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		20	3076	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		961					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2881G>A	CCDS43175.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	12.18|12.18	1.860188|1.860188	0.32884|0.32884	4.98E-4|4.98E-4	0.0|0.0	ENSG00000163872|ENSG00000163872	ENST00000432781|ENST00000421660;ENST00000305135	.|T	.|0.22134	.|1.97	5.88|5.88	2.08|2.08	0.27032|0.27032	.|.	.|0.406531	.|0.24708	.|N	.|0.036257	T|T	0.12518|0.12518	0.0304|0.0304	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22003	.|0.063;0.017	.|B;B	.|0.15870	.|0.014;0.003	T|T	0.19418|0.19418	-1.0306|-1.0306	5|10	.|0.48119	.|T	.|0.1	-2.9561|-2.9561	6.108|6.108	0.20084|0.20084	0.2055:0.2512:0.5433:0.0|0.2055:0.2512:0.5433:0.0	.|.	.|123;961	.|Q8N5H6;Q9ULM3	.|.;YETS2_HUMAN	H|M	146|961	.|ENSP00000306983:V961M	.|ENSP00000306983:V961M	R|V	+|+	2|1	0|0	YEATS2|YEATS2	184986751|184986751	0.501000|0.501000	0.26099|0.26099	0.205000|0.205000	0.23548|0.23548	0.955000|0.955000	0.61496|0.61496	0.697000|0.697000	0.25556|0.25556	0.102000|0.102000	0.17638|0.17638	-0.136000|-0.136000	0.14681|0.14681	CGT|GTG		0.517	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		3	31	0	0	0	1	0	3	31					A	183504057	G	A	183504057	3	1	26	1	0	0	0	0	1	0	0	0	17469	1145	40	1	2955	1	YEATS2	3	183504057	Missense_Mutation	SNP	G	TCGA-QR-A6ZZ-01A-11D-A35D-08	128632822	183504057	14518373	5	470										
PRMT10	90826	broad.mit.edu	37	chr4	148575325	148575325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggttcaaggatgttctgtaCagtattactctgtccagttc	9	8	3	0			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr4:148575325C>T	ENST00000322396.6	-	9	1965	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		575	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATGTTCTGTACAGTATTACTC	0.448																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1723-1725)Gta>Ata		protein arginine methyltransferase 10 (putative)							143	131	135					4																	148575325		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575325C>T																												ENST00000322396.6:c.1723G>A	4.37:g.148575325C>T	ENSP00000314396:p.Val575Ile					PRMT10_ENST00000541232.1_Missense_Mutation_p.V462I|TMEM184C_ENST00000508208.1_Intron	p.V575I	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			9	1965	-			575					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1723G>A	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	1.138	-0.650303	0.03506	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.30714	1.52;1.52	5.86	1.13	0.20643	.	1.522720	0.03102	N	0.161288	T	0.12220	0.0297	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18777	-1.0326	10	0.23302	T	0.38	-38.9013	4.1968	0.10447	0.1032:0.4138:0.3334:0.1496	.	575	Q6P2P2	ANM10_HUMAN	I	575;462	ENSP00000314396:V575I;ENSP00000439508:V462I	ENSP00000314396:V575I	V	-	1	0	PRMT10	148794775	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-1.689000	0.01923	0.764000	0.33197	0.655000	0.94253	GTA		0.448	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			5	52	0	0	0	1	0	5	52					T	148575325	C	T	148575325	3	4	26	1	0	0	0	0	1	0	0	0	12536	478	17	3	830	3	PRMT10	4	148575325	Missense_Mutation	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		148575325	42578951	6	471										
PCDHB4	56131	broad.mit.edu	37	chr5	140501812	140501812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	agcagcgtttgcagctggatCgtcagactggagatttgctt	13	8	1	2			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:140501812C>T	ENST00000194152.1	+	1	232	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCTGGATCGTCAGACTGG	0.552																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(232-234)Cgt>Tgt									62	65	64					5																	140501812		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501812C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.232C>T	5.37:g.140501812C>T	ENSP00000194152:p.Arg78Cys						p.R78C	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	232	+			78			Cadherin 1.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.232C>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	9.635	1.137437	0.21123	.	.	ENSG00000081818	ENST00000194152	T	0.39229	1.09	4.66	0.684	0.18003	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.39759	0.1090	M	0.64997	1.995	0.09310	N	1	P	0.41643	0.758	B	0.40825	0.341	T	0.19451	-1.0305	9	0.41790	T	0.15	.	9.5148	0.39098	0.0:0.2952:0.5555:0.1492	.	78	Q9Y5E5	PCDB4_HUMAN	C	78	ENSP00000194152:R78C	ENSP00000194152:R78C	R	+	1	0	PCDHB4	140481996	0.000000	0.05858	0.084000	0.20598	0.952000	0.60782	-2.812000	0.00754	0.004000	0.14682	-0.150000	0.13652	CGT		0.552	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		19	26	0	0	0	1	0	19	26					T	140501812	C	T	140501812	3	4	26	1	0	0	0	0	1	0	0	0	11544	884	31	2	234	2	PCDHB4	5	140501812	Missense_Mutation	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		140501812	40413448	7	472										
MXD3	83463	broad.mit.edu	37	chr5	176737513	176737513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggcatctgctgcttcagccGctccaggcaccgcttcaact	10	16	3	0			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr5:176737513G>A	ENST00000439742.2	-	4	713	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	MXD3_ENST00000427908.2_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W|MXD3_ENST00000513063.1_Missense_Mutation_p.R79W	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	79	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTCAGCCGCTCCAGGCAC	0.692																																						ENST00000427908.2																			0											c.(235-237)Cgg>Tgg		MAX dimerization protein 3							22	27	25					5																	176737513		2202	4299	6501	SO:0001583	missense	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176737513G>A	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.235C>T	5.37:g.176737513G>A	ENSP00000401867:p.Arg79Trp					MXD3_ENST00000513063.1_Missense_Mutation_p.R79W|MXD3_ENST00000423571.2_Missense_Mutation_p.R79W|MXD3_ENST00000439742.2_Missense_Mutation_p.R79W	p.R79W	NM_001142935.1	NP_001136407.1	Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	302	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	79			Helix-loop-helix motif.		B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Missense_Mutation	SNP	ENST00000439742.2	37	c.235C>T	CCDS4416.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559404	0.86335	.	.	ENSG00000213347	ENST00000427908;ENST00000423571;ENST00000439742;ENST00000303165;ENST00000513063;ENST00000502529	D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71	4.75	3.88	0.44766	Helix-loop-helix DNA-binding (5);	0.124595	0.56097	D	0.000035	D	0.97685	0.9241	L	0.39245	1.2	0.36578	D	0.873389	D;D;D;D	0.89917	0.999;0.987;0.99;1.0	D;P;P;D	0.77557	0.941;0.528;0.636;0.99	D	0.99952	1.1558	10	0.87932	D	0	-6.4933	14.781	0.69766	0.0:0.1452:0.8548:0.0	.	79;70;79;79	Q9BW11-3;F8W9D2;Q9BW11;B4E0J1	.;.;MAD3_HUMAN;.	W	79;79;79;70;79;69	ENSP00000416921:R79W;ENSP00000389716:R79W;ENSP00000401867:R79W;ENSP00000421463:R79W;ENSP00000425029:R69W	ENSP00000307720:R70W	R	-	1	2	MXD3	176670119	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.548000	0.60718	1.207000	0.43291	0.561000	0.74099	CGG		0.692	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			5	9	0	0	0	1	0	5	9					A	176737513	G	A	176737513	3	1	26	1	0	0	0	0	1	0	0	0	10000	1086	38	1	478	1	MXD3	5	176737513	Missense_Mutation	SNP	G	TCGA-QR-A6ZZ-01A-11D-A35D-08	36235701	176737513	4177747	8	473										
C9orf68	55064	broad.mit.edu	37	chr9	4605438	4605438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggactgagaaccaggatggAacctgctcaacagatggaac	12	9	1	2			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr9:4605438A>C	ENST00000454239.2	-	11	1243	c.998T>G	c.(997-999)tTc>tGc	p.F333C	SPATA6L_ENST00000381890.5_Missense_Mutation_p.S273A|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F210C|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F275C			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	333																	ACCAGGATGGAACCTGCTCAA	0.413																																						ENST00000454239.2																			0											c.(997-999)tTc>tGc		spermatogenesis associated 6-like							100	93	95					9																	4605438		1901	4147	6048	SO:0001583	missense	55064							g.chr9:4605438A>C	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 68"	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.998T>G	9.37:g.4605438A>C	ENSP00000404277:p.Phe333Cys					SPATA6L_ENST00000381890.5_Missense_Mutation_p.S273A|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F275C|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F210C	p.F333C			B4DIY4	B4DIY4_HUMAN			11	1243	-			275					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.998T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.93|10.93	1.491055|1.491055	0.26774|0.26774	.|.	.|.	ENSG00000106686|ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895|ENST00000381890	T;T;T|T	0.29142|0.48522	1.63;1.58;1.58|0.81	4.81|4.81	-0.184|-0.184	0.13280|0.13280	.|.	2.941040|.	0.01032|.	N|.	0.004158|.	T|T	0.35537|0.35537	0.0935|0.0935	M|M	0.63843|0.63843	1.955|1.955	0.20074|0.20074	N|N	0.999936|0.999936	B;B;B|.	0.20261|.	0.02;0.043;0.023|.	B;B;B|.	0.21546|.	0.025;0.035;0.015|.	T|T	0.36286|0.36286	-0.9754|-0.9754	10|7	0.87932|0.02654	D|T	0|1	-10.3562|-10.3562	3.9481|3.9481	0.09356|0.09356	0.5259:0.1834:0.2907:0.0|0.5259:0.1834:0.2907:0.0	.|.	275;210;333|.	B4DIY4;E7ENB5;Q8N4H0|.	.;.;CI068_HUMAN|.	C|A	333;275;210|273	ENSP00000404277:F333C;ENSP00000417063:F275C;ENSP00000371319:F210C|ENSP00000371314:S273A	ENSP00000371319:F210C|ENSP00000371314:S273A	F|S	-|-	2|1	0|0	C9orf68|C9orf68	4595438|4595438	0.840000|0.840000	0.29493|0.29493	0.161000|0.161000	0.22692|0.22692	0.246000|0.246000	0.25737|0.25737	1.025000|1.025000	0.30090|0.30090	0.082000|0.082000	0.17018|0.17018	-0.290000|-0.290000	0.09829|0.09829	TTC|TCC		0.413	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		18	34	0	0	0	1	0	18	34					C	4605438	A	C	4605438	3	2	26	1	0	0	0	0	1	0	0	0	2491	246	9	5	188	5	C9orf68	9	4605438	Missense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08		4605438	136607993	9	474										
PAPSS2	9060	broad.mit.edu	37	chr10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaaacaacgataagttttgCcctggaggagtaccttgtct	9	8	1	0			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(181-183)gCc>gTc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							148	151	150					10																	89472868		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89472868C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.182C>T	10.37:g.89472868C>T	ENSP00000354436:p.Ala61Val					PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR	p.A61V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	551	+		Melanoma(5;0.019)|Colorectal(252;0.123)	61					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.182C>T	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929172	0.92389	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.78364	-1.17;-1.17;-1.17	5.87	5.87	0.94306	Adenylylsulphate kinase, C-terminal (3);	0.046950	0.85682	N	0.000000	D	0.89942	0.6861	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.98;0.999	P;P	0.61477	0.717;0.889	D	0.91189	0.4982	10	0.87932	D	0	-17.7869	20.2245	0.98337	0.0:1.0:0.0:0.0	.	61;61	O95340;O95340-2	PAPS2_HUMAN;.	V	61;61;65;60	ENSP00000354436:A61V;ENSP00000406157:A61V;ENSP00000397123:A65V	ENSP00000354436:A61V	A	+	2	0	PAPSS2	89462848	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	GCC		0.473	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			4	131	0	0	0	1	0	4	131					T	89472868	C	T	89472868	3	4	26	1	0	0	0	0	1	0	0	0	11435	739	26	3	192	3	PAPSS2	10	89472868	Missense_Mutation	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		89472868	46061879	10	475										
MMS19	64210	broad.mit.edu	37	chr10	99220451	99220451	+	Splice_Site	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	ctgtctccagaaaggacgtaCccgggctgtaaggcaggagc							TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr10:99220451delC	ENST00000438925.2	-	25	2805		c.e25+1		MMS19_ENST00000327238.10_Splice_Site|MMS19_ENST00000370782.2_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000355839.6_Splice_Site	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)						cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAAGGACGTACCCGGGCTGTA	0.493								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.e25+1	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							71	67	68					10																	99220451		2202	4300	6502	SO:0001630	splice_region_variant	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99220451delC	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2469+1G>-	10.37:g.99220451delC						MMS19_ENST00000355839.6_Splice_Site|MMS19_ENST00000370782.2_Splice_Site|MMS19_ENST00000327277.7_Splice_Site|MMS19_ENST00000327238.10_Splice_Site		NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	25	2805	-		Colorectal(252;0.0846)						B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Splice_Site	DEL	ENST00000438925.2	37		CCDS7464.1																																																																																				0.493	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2		Intron	2	4						2	4	---	---	---	---	-	99220451	C	-	99220451	8	5	26	1	0	1	0	1	0	0	1	0	9672	521	18	0	650	0	MMS19	10	99220451	Splice_Site	DEL	C	TCGA-QR-A6ZZ-01A-11D-A35D-08	9747583	99220451	36314296	11	476										
DENND5A	23258	broad.mit.edu	37	chr11	9225671	9225671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagggggagcatgtaggacaTcatactcagcattgtgcatg	13	8	2	0			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr11:9225671T>C	ENST00000328194.3	-	4	805	c.485A>G	c.(484-486)gAt>gGt	p.D162G	DENND5A_ENST00000530044.1_Missense_Mutation_p.D162G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	162					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTAGGACATCATACTCAGC	0.507																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(484-486)gAt>gGt		DENN/MADD domain containing 5A							185	140	155					11																	9225671		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225671T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.485A>G	11.37:g.9225671T>C	ENSP00000328524:p.Asp162Gly					DENND5A_ENST00000530044.1_Missense_Mutation_p.D162G	p.D162G	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	805	-			162					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.485A>G	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258085	0.39896	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.03951	3.75;3.75	5.54	5.54	0.83059	.	0.097853	0.64402	D	0.000001	T	0.08179	0.0204	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.12837	-1.0532	10	0.29301	T	0.29	.	15.6969	0.77506	0.0:0.0:0.0:1.0	.	162;162	E9PS91;Q6IQ26	.;DEN5A_HUMAN	G	162	ENSP00000328524:D162G;ENSP00000435866:D162G	ENSP00000328524:D162G	D	-	2	0	DENND5A	9182247	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.168000	0.64978	2.108000	0.64289	0.533000	0.62120	GAT		0.507	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		3	25	0	0	0	1	0	3	25					C	9225671	T	C	9225671	3	2	26	1	0	0	0	0	1	0	0	0	4436	1435	50	4	3458	4	DENND5A	11	9225671	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		9225671	125780845	12	477										
PC	5091	broad.mit.edu	37	chr11	66638898	66638898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggcaggcctgggcgaagtcCgctcgctcagagaggaaccc	15	13	1	1			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr11:66638898C>T	ENST00000393958.2	-	5	468	c.375G>A	c.(373-375)gcG>gcA	p.A125A	PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000393955.2_Silent_p.A125A|PC_ENST00000355677.3_Silent_p.A125A|PC_ENST00000393960.1_Silent_p.A125A	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	125	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGCGAAGTCCGCTCGCTCAG	0.632																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(373-375)gcG>gcA		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						88	94	92					11																	66638898		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638898C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.375G>A	11.37:g.66638898C>T						PC_ENST00000524491.1_Silent_p.A85A|PC_ENST00000393958.2_Silent_p.A125A|PC_ENST00000355677.3_Silent_p.A125A|PC_ENST00000393955.2_Silent_p.A125A	p.A125A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	6	656	-		Melanoma(852;0.0525)	125			Biotin carboxylation.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.375G>A	CCDS8152.1																																																																																				0.632	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		17	72	0	0	0	1	0	17	72					T	66638898	C	T	66638898	2	4	26	1	0	0	0	0	0	0	0	1	11497	639	23	2		2	PC	11	66638898	Silent	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08	57413227	66638898	68367618	13	478										
KIAA0748	9840	broad.mit.edu	37	chr12	55359857	55359857	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	cttgaactagtcttgttggtCcccccagtcatgctgctgga							TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr12:55359857delC	ENST00000449076.1	-	7	558	c.426delG	c.(424-426)gggfs	p.G142fs	TESPA1_ENST00000532804.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000524959.1_Intron|TESPA1_ENST00000524622.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.G142fs	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	142					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCTTGTTGGTCCCCCCAGTCA	0.512																																						ENST00000524622.1																			0											c.(10-12)ggfs		thymocyte expressed, positive selection associated 1							64	63	63					12																	55359857		1941	4148	6089	SO:0001589	frameshift_variant	9840							g.chr12:55359857delC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.426delG	12.37:g.55359857delC	ENSP00000400892:p.Gly142fs					TESPA1_ENST00000449076.1_Frame_Shift_Del_p.G142fs|TESPA1_ENST00000316577.8_Frame_Shift_Del_p.G142fs|TESPA1_ENST00000531122.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000532804.1_Frame_Shift_Del_p.G4fs|TESPA1_ENST00000524959.1_Intron	p.G4fs	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			5	673	-			142					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Frame_Shift_Del	DEL	ENST00000449076.1	37	c.12delG	CCDS44913.1																																																																																				0.512	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		2	4						2	4	---	---	---	---	-	55359857	C	-	55359857	7	5	26	1	0	1	0	1	0	0	0	0	8190	842	30	0	1155	0	KIAA0748	12	55359857	Frame_Shift_Del	DEL	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		55359857	78492038	14	479										
VEZT	55591	broad.mit.edu	37	chr12	95660174	95660174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttcattagcttgctcgttaTgcttcccacttggtggattg	9	10	1	0			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr12:95660174T>G	ENST00000436874.1	+	5	581	c.476T>G	c.(475-477)aTg>aGg	p.M159R	VEZT_ENST00000261219.6_Missense_Mutation_p.M111R|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	159					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTGCTCGTTATGCTTCCCACT	0.408																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(475-477)aTg>aGg		vezatin, adherens junctions transmembrane protein							303	289	293					12																	95660174		1906	4135	6041	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660174T>G	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.476T>G	12.37:g.95660174T>G	ENSP00000410083:p.Met159Arg					VEZT_ENST00000261219.6_Missense_Mutation_p.M111R|VEZT_ENST00000356859.4_3'UTR	p.M159R	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			5	581	+			159					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.476T>G	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455531	0.43634	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.47869	1.07;0.91;1.07;0.83;0.87;1.07	5.39	5.39	0.77823	.	0.193646	0.64402	D	0.000020	T	0.54224	0.1845	L	0.54323	1.7	0.41378	D	0.987536	D;P;P;P	0.55800	0.973;0.873;0.547;0.602	P;P;B;B	0.54590	0.756;0.5;0.26;0.378	T	0.57242	-0.7845	10	0.52906	T	0.07	-17.0707	9.8707	0.41172	0.0:0.0764:0.0:0.9236	.	159;159;111;111	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	R	159;129;111;178;150;81;111;159	ENSP00000410083:M159R;ENSP00000449591:M129R;ENSP00000261219:M111R;ENSP00000449701:M178R;ENSP00000447151:M81R;ENSP00000380894:M111R	ENSP00000261219:M111R	M	+	2	0	VEZT	94184305	1.000000	0.71417	0.981000	0.43875	0.039000	0.13416	3.477000	0.53151	2.023000	0.59567	0.528000	0.53228	ATG		0.408	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		96	106	0	0	0	1	0	96	106					G	95660174	T	G	95660174	3	3	26	1	0	0	0	0	1	0	0	0	17153	1464	51	5	494	5	VEZT	12	95660174	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08	40300317	95660174	38191721	15	480										
POTEG	404785	broad.mit.edu	37	chr14	19553785	19553785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgggcccttggggagactaCgacgacagcgctttcatgga	15	10	1	1	rs377102807		TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr14:19553785C>T	ENST00000409832.3	+	1	421	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	123										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGAGACTACGACGACAGCG	0.592													C|||	1	0.000199681	0	0	5008	,	,		63003	0		0.001	False		,,,				2504	0					ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(367-369)taC>taT		POTE ankyrin domain family, member G		C		1,4401		0,1,2200	335	369	358		369	-1.6	0	14		358	0,8594		0,0,4297	no	coding-synonymous	POTEG	NM_001005356.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		123/509	19553785	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	404785							g.chr14:19553785C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.369C>T	14.37:g.19553785C>T							p.Y123Y	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	421	+			123					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.369C>T	CCDS32018.1																																																																																				0.592	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		5	576	0	0	0	1	0	5	576					T	19553785	C	T	19553785	2	4	26	1	0	0	0	0	0	0	0	1	12266	547	19	1		1	POTEG	14	19553785	Silent	SNP	C	TCGA-QR-A6ZZ-01A-11D-A35D-08		19553785	87795755	16	481										
C14orf28	122525	broad.mit.edu	37	chr14	45369991	45369991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caagatggaaaaacagcaatAcaaatctgaagtccataaag	7	7	1	2			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr14:45369991A>G	ENST00000325192.3	+	2	628	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.Y118C|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	118										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AAACAGCAATACAAATCTGAA	0.323																																						ENST00000325192.3																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						c.(352-354)tAc>tGc		chromosome 14 open reading frame 28							40	43	42					14																	45369991		2203	4300	6503	SO:0001583	missense	122525							g.chr14:45369991A>G	AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.353A>G	14.37:g.45369991A>G	ENSP00000326846:p.Tyr118Cys					C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.Y118C|RP11-857B24.5_ENST00000555157.1_RNA	p.Y118C	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN			2	628	+			118						Missense_Mutation	SNP	ENST00000325192.3	37	c.353A>G	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548864	0.45383	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.32753	1.44;1.44	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41395	-0.9511	10	0.87932	D	0	.	14.5065	0.67755	1.0:0.0:0.0:0.0	.	118	Q4W4Y0	CN028_HUMAN	C	118	ENSP00000326846:Y118C;ENSP00000451791:Y118C	ENSP00000326846:Y118C	Y	+	2	0	C14orf28	44439741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.697000	0.84279	2.367000	0.80283	0.528000	0.53228	TAC		0.323	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923		3	40	0	0	0	1	0	3	40					G	45369991	A	G	45369991	3	3	26	1	0	0	0	0	1	0	0	0	1770	391	14	4	355	4	C14orf28	14	45369991	Missense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08	25816206	45369991	61979549	17	482										
OR4F6	390648	broad.mit.edu	37	chr15	102346304	102346304	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accgatatgtggccatatgtAagcctctccactacctgacc	7	14	1	1			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr15:102346304A>T	ENST00000328882.4	+	1	403	c.382A>T	c.(382-384)Aag>Tag	p.K128*		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GGCCATATGTAAGCCTCTCCA	0.448																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(382-384)Aag>Tag		olfactory receptor, family 4, subfamily F, member 6							255	226	236					15																	102346304		2203	4300	6503	SO:0001587	stop_gained	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346304A>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"GPCR / Class A : Olfactory receptors"	15372	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily F, member 12"	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.382A>T	15.37:g.102346304A>T	ENSP00000327525:p.Lys128*						p.K128*	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	403	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		128					B9EH28|Q6IF95	Nonsense_Mutation	SNP	ENST00000328882.4	37	c.382A>T	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	26.3	4.724148	0.89298	.	.	ENSG00000184140	ENST00000328882	.	.	.	4.78	4.78	0.61160	.	0.137951	0.32055	N	0.006647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2347	0.26064	0.9018:0.0:0.0982:0.0	.	.	.	.	X	128	.	ENSP00000327525:K128X	K	+	1	0	OR4F6	100163827	0.001000	0.12720	1.000000	0.80357	0.989000	0.77384	0.011000	0.13264	2.139000	0.66308	0.482000	0.46254	AAG		0.448	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			51	138	0	0	0	1	0	51	138					T	102346304	A	T	102346304	4	4	26	1	0	0	0	0	0	1	0	0	11066	363	13	5	384	5	OR4F6	15	102346304	Nonsense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08		102346304	185088	18	483										
ACACA	31	broad.mit.edu	37	chr17	35627724	35627724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctccctctgaggccttgatcAttactggatatccaacttcc	6	14	2	2			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chr17:35627724A>G	ENST00000394406.2	-	10	1116	c.926T>C	c.(925-927)aTg>aCg	p.M309T	ACACA_ENST00000335166.5_Missense_Mutation_p.M231T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000353139.5_Missense_Mutation_p.M346T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCCTTGATCATTACTGGATA	0.398																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1036-1038)aTg>aCg		acetyl-CoA carboxylase alpha	Biotin(DB00121)						219	211	213					17																	35627724		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35627724A>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.926T>C	17.37:g.35627724A>G	ENSP00000377928:p.Met309Thr					ACACA_ENST00000394406.2_Missense_Mutation_p.M309T|ACACA_ENST00000360679.3_Missense_Mutation_p.M251T|ACACA_ENST00000335166.5_Missense_Mutation_p.M231T	p.M346T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			10	1518	-		Breast(25;0.00157)|Ovarian(249;0.15)	309			ATP-grasp.|Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1037T>C	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457031	0.84317	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.56	5.56	0.83823	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.98351	4.21	0.80722	D	1	P;D;D	0.89917	0.917;1.0;1.0	P;D;D	0.87578	0.64;0.998;0.984	D	0.98977	1.0803	10	0.87932	D	0	-20.9179	15.7051	0.77573	1.0:0.0:0.0:0.0	.	346;309;251	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	346;251;309;333;231;231	ENSP00000344789:M346T;ENSP00000353898:M251T;ENSP00000377928:M309T;ENSP00000335323:M231T	ENSP00000335323:M231T	M	-	2	0	ACACA	32701837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.115000	0.64714	0.477000	0.44152	ATG		0.398	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		12	85	0	0	0	1	0	12	85					G	35627724	A	G	35627724	3	3	26	1	0	0	0	0	1	0	0	0	106	217	8	4	6302	4	ACACA	17	35627724	Missense_Mutation	SNP	A	TCGA-QR-A6ZZ-01A-11D-A35D-08		35627724	45567486	19	484										
CXorf22	170063	broad.mit.edu	37	chrX	35989875	35989875	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tagcatctcaggaggaagagTctgtgagaagaaaggcacgt	14	6	2	3			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chrX:35989875T>A	ENST00000297866.5	+	12	2209	c.2143T>A	c.(2143-2145)Tct>Act	p.S715T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	715										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGAGGAAGAGTCTGTGAGAAG	0.383																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2143-2145)Tct>Act		chromosome X open reading frame 22							56	51	53					X																	35989875		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989875T>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2143T>A	X.37:g.35989875T>A	ENSP00000297866:p.Ser715Thr						p.S715T	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2209	+			715					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2143T>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	3.023	-0.201409	0.06219	.	.	ENSG00000165164	ENST00000297866	T	0.14516	2.5	5.84	0.46	0.16684	.	0.238971	0.43416	D	0.000575	T	0.10680	0.0261	L	0.42245	1.32	0.09310	N	1	B	0.28419	0.211	B	0.31442	0.13	T	0.38067	-0.9678	10	0.06625	T	0.88	-18.8154	12.9555	0.58425	0.0:0.0:0.6128:0.3872	.	715	Q6ZTR5	CX022_HUMAN	T	715	ENSP00000297866:S715T	ENSP00000297866:S715T	S	+	1	0	CXorf22	35899796	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	1.018000	0.30002	-0.271000	0.09272	0.486000	0.48141	TCT		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		18	27	0	0	0	1	0	18	27					A	35989875	T	A	35989875	3	1	26	1	0	0	0	0	1	0	0	0	4102	1667	58	5	2189	5	CXorf22	23	35989875	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08		35989875	119280685	20	485										
KDM5C	8242	broad.mit.edu	37	chrX	53231143	53231143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaactctcctgcacactggtTtgtgcggacaacctgaagaa	9	11	1	2			TCGA-QR-A6ZZ-01A-11D-A35D-08	TCGA-QR-A6ZZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42d183e8-221b-4e70-8f87-5945d04bfcc3	b7d26f9e-964c-436f-9e04-437792522c0b	g.chrX:53231143T>C	ENST00000375401.3	-	13	2291	c.1759A>G	c.(1759-1761)Aac>Gac	p.N587D	KDM5C_ENST00000452825.3_Missense_Mutation_p.N520D|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000375379.3_Missense_Mutation_p.N587D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	587	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCACACTGGTTTGTGCGGACA	0.478			"N, F, S"		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(1558-1560)Aac>Gac		lysine (K)-specific demethylase 5C							111	97	102					X																	53231143		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53231143T>C	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1759A>G	X.37:g.53231143T>C	ENSP00000364550:p.Asn587Asp					KDM5C_ENST00000404049.3_Missense_Mutation_p.N586D|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.N587D|KDM5C_ENST00000375383.3_Missense_Mutation_p.N546D|KDM5C_ENST00000375401.3_Missense_Mutation_p.N587D	p.N520D	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			11	2090	-			587			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1558A>G	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011094	0.54361	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.68	5.68	0.88126	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	N	0.00729	-1.24	0.51482	D	0.99992	B;B;B	0.25521	0.023;0.065;0.128	B;B;B	0.34138	0.023;0.134;0.176	T	0.44952	-0.9294	10	0.23891	T	0.37	-10.9174	12.6825	0.56930	0.0:0.0:0.0:1.0	.	520;586;587	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	D	520;587;586;587;546	ENSP00000445176:N520D;ENSP00000364550:N587D;ENSP00000385394:N586D;ENSP00000364528:N587D;ENSP00000364532:N546D	ENSP00000364528:N587D	N	-	1	0	KDM5C	53247868	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.902000	0.55061	0.486000	0.48141	AAC		0.478	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		10	36	0	0	0	1	0	10	36					C	53231143	T	C	53231143	3	2	26	1	0	0	0	0	1	0	0	0	8135	1841	64	4	3077	4	KDM5C	23	53231143	Missense_Mutation	SNP	T	TCGA-QR-A6ZZ-01A-11D-A35D-08	17241268	53231143	102039417	21	486										
VAMP3	9341	broad.mit.edu	37	chr1	7837366	7837366	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ttgaagaggaaatattggtgGaagaattgcaaggtaattat	12	1	0	3			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:7837366G>A	ENST00000054666.6	+	3	334	c.219G>A	c.(217-219)tgG>tgA	p.W73*	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W45*	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	73	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AATATTGGTGGAAGAATTGCA	0.448																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(217-219)tgG>tgA		vesicle-associated membrane protein 3							86	84	85					1																	7837366		2203	4300	6503	SO:0001587	stop_gained	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7837366G>A	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"Vesicle-associated membrane proteins"	12644	protein-coding gene	gene with protein product	"cellubrevin"	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.219G>A	1.37:g.7837366G>A	ENSP00000054666:p.Trp73*					VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W45*	p.W73*	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	334	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	73			v-SNARE coiled-coil homology.		Q9BRV4	Nonsense_Mutation	SNP	ENST00000054666.6	37	c.219G>A	CCDS88.1	.	.	.	.	.	.	.	.	.	.	G	38	6.794772	0.97845	.	.	ENSG00000049245	ENST00000054666	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1432	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000054666:W73X	W	+	3	0	VAMP3	7759953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.760000	0.98935	2.941000	0.99782	0.655000	0.94253	TGG		0.448	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		13	21	0	0	0	1	0	13	21					A	7837366	G	A	7837366	4	1	27	1	0	0	0	0	0	1	0	0	17111	1183	41	3	229	3	VAMP3	1	7837366	Nonsense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		7837366	241413255	1	487										
TCEB3	6924	broad.mit.edu	37	chr1	24080933	24080933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	cacctgatcagctgtatcgcAtagaggaatacaatcatgtg	9	9	2	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:24080933A>T	ENST00000418390.2	+	7	2123	c.1852A>T	c.(1852-1854)Ata>Tta	p.I618L	TCEB3_ENST00000609199.1_Missense_Mutation_p.I592L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	618	Activation domain. {ECO:0000250}.|F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCTGTATCGCATAGAGGAATA	0.478																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1852-1854)Ata>Tta		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							141	128	132					1																	24080933		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080933A>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1852A>T	1.37:g.24080933A>T	ENSP00000395574:p.Ile618Leu						p.I618L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	7	2123	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	618			Activation domain (By similarity).|F-box.		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1852A>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514675	0.85389	.	.	ENSG00000011007	ENST00000418390	T	0.26957	1.7	5.41	5.41	0.78517	F-box domain, cyclin-like (1);	0.185215	0.37219	N	0.002198	T	0.26376	0.0644	N	0.25890	0.77	0.80722	D	1	P	0.47604	0.898	P	0.49192	0.602	T	0.01951	-1.1241	10	0.22706	T	0.39	-9.8063	15.7353	0.77837	1.0:0.0:0.0:0.0	.	618	Q14241	ELOA1_HUMAN	L	618	ENSP00000395574:I618L	ENSP00000395574:I618L	I	+	1	0	TCEB3	23953520	1.000000	0.71417	0.942000	0.38095	0.978000	0.69477	9.307000	0.96226	2.179000	0.69175	0.379000	0.24179	ATA		0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		17	33	0	0	0	1	0	17	33					T	24080933	A	T	24080933	3	4	27	1	0	0	0	0	1	0	0	0	15678	217	8	5	1878	5	TCEB3	1	24080933	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08	16243567	24080933	225169688	2	488										
CYP4A11	1579	broad.mit.edu	37	chr1	47407091	47407091	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	aggagtctgctggggctcagCacagagacactcatggtgca	14	10	3	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:47407091C>G	ENST00000310638.4	-	1	46	c.15G>C	c.(13-15)gtG>gtC	p.V5V	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000462347.1_Silent_p.V5V|CYP4A11_ENST00000371904.4_Silent_p.V5V	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	5				V -> A (in Ref. 8; AA sequence). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGGGGCTCAGCACAGAGACAC	0.587																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(13-15)gtG>gtC		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						83	83	83					1																	47407091		2203	4300	6503	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47407091C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.15G>C	1.37:g.47407091C>G						CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000475477.1_5'UTR	p.V5V	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			1	46	-			5	V -> A (in Ref. 8; AA sequence).				Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.15G>C	CCDS543.1																																																																																				0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		5	65	0	0	0	1	0	5	65					G	47407091	C	G	47407091	2	3	27	1	0	0	0	0	0	0	0	1	4183	697	25	5		5	CYP4A11	1	47407091	Silent	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	23326158	47407091	201843530	3	489										
RC3H1	149041	broad.mit.edu	37	chr1	173950089	173950089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gttctcgccgcagagcttcaTaggttctaaattcttctttc	7	11	5	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:173950089T>C	ENST00000367696.2	-	6	1178	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	RC3H1_ENST00000367694.2_Missense_Mutation_p.Y276C|RC3H1_ENST00000258349.4_Missense_Mutation_p.Y276C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	276					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGAGCTTCATAGGTTCTAAA	0.418																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(826-828)tAt>tGt		ring finger and CCCH-type domains 1							109	103	105					1																	173950089		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173950089T>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.827A>G	1.37:g.173950089T>C	ENSP00000356669:p.Tyr276Cys					RC3H1_ENST00000258349.4_Missense_Mutation_p.Y276C|RC3H1_ENST00000367694.2_Missense_Mutation_p.Y276C	p.Y276C			Q5TC82	RC3H1_HUMAN			6	1178	-			276					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.827A>G	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867022	0.91511	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95821	-3.82;-3.82;-3.82	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-11.2987	15.9528	0.79855	0.0:0.0:0.0:1.0	.	276;276;276;276	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	C	276	ENSP00000356669:Y276C;ENSP00000258349:Y276C;ENSP00000356667:Y276C	ENSP00000258349:Y276C	Y	-	2	0	RC3H1	172216712	1.000000	0.71417	0.927000	0.36925	0.970000	0.65996	7.977000	0.88081	2.159000	0.67721	0.533000	0.62120	TAT		0.418	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		5	33	0	0	0	1	0	5	33					C	173950089	T	C	173950089	3	2	27	1	0	0	0	0	1	0	0	0	13166	1406	49	4	2634	4	RC3H1	1	173950089	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08	126542998	173950089	75300532	4	490										
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		21104	0		0	False		,,,				2504	0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	117	0	0	0	1	0	4	117					T	223176649	C	T	223176649	3	4	27	1	0	0	0	0	1	0	0	0	4539	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	49226560	223176649	26073972	5	491										
C1orf150	148823	broad.mit.edu	37	chr1	247737617	247737617	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gacagaatatgcccttcttaGgacttctgttagtaggcctt	9	9	2	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:247737617G>T	ENST00000366488.4	+	5	445	c.341G>T	c.(340-342)aGg>aTg	p.R114M	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.R82M|GCSAML_ENST00000536561.1_Missense_Mutation_p.R94M|GCSAML_ENST00000366489.1_Missense_Mutation_p.R94M|GCSAML_ENST00000463359.1_Missense_Mutation_p.R82M|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366491.2_Missense_Mutation_p.R94M|GCSAML_ENST00000527084.1_Missense_Mutation_p.R82M	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	114																	GCCCTTCTTAGGACTTCTGTT	0.438																																						ENST00000366491.2																			0											c.(280-282)aGg>aTg		germinal center-associated, signaling and motility-like							153	128	137					1																	247737617		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737617G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.341G>T	1.37:g.247737617G>T	ENSP00000355444:p.Arg114Met					GCSAML_ENST00000366488.4_Missense_Mutation_p.R114M|GCSAML_ENST00000366489.1_Missense_Mutation_p.R94M|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.R94M|GCSAML_ENST00000527084.1_Missense_Mutation_p.R82M|GCSAML_ENST00000527541.1_Missense_Mutation_p.R82M|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.R82M	p.R94M							7	778	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.281G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.110907	0.37242	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	0.961	0.19638	.	0.322809	0.22380	N	0.060830	T	0.50939	0.1645	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	D	0.63703	0.917	T	0.37641	-0.9697	9	0.72032	D	0.01	-3.8815	6.4156	0.21715	0.324:0.0:0.676:0.0	.	114	Q5JQS6	CA150_HUMAN	M	82;82;94;94;82;114;94	.	ENSP00000355444:R114M	R	+	2	0	C1orf150	245804240	0.021000	0.18746	0.030000	0.17652	0.606000	0.37113	-0.065000	0.11617	0.106000	0.17784	-0.194000	0.12790	AGG		0.438	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		6	33	1	0	8.12818e-05	1	9.33236e-05	6	33					T	247737617	G	T	247737617	3	4	27	1	0	0	0	0	1	0	0	0	2004	1000	35	5	359	5	C1orf150	1	247737617	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	24560968	247737617	1513004	6	492										
SFTPB	6439	broad.mit.edu	37	chr2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gagggtctggcagagggtccCgcagaggtttgggcaggggg	22	7	1	2	rs370750455		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:85892817C>T	ENST00000519937.2	-	5	513	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	SFTPB_ENST00000342375.3_Missense_Mutation_p.R165Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q|SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q			P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667													c|||	1	0.000199681	0	0	5008	,	,		17274	0		0.001	False		,,,				2504	0					ENST00000342375.3																			1	Substitution - Missense(1)	p.R165Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(493-495)cGg>cAg		surfactant protein B			GLN/ARG,GLN/ARG	0,4406		0,0,2203	53	55	54		530,530	0.2	0	2		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SFTPB	NM_000542.3,NM_198843.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	177/394,177/394	85892817	1,13005	2203	4300	6503	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892817C>T	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.494G>A	2.37:g.85892817C>T	ENSP00000428719:p.Arg165Gln					SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q|SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q	p.R165Q	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN			6	629	-			165					Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.494G>A		.	.	.	.	.	.	.	.	.	.	c	1.599	-0.526996	0.04141	0.0	1.16E-4	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	T;T;T;T	0.68903	0.68;-0.18;-0.36;-0.18	1.21	0.164	0.14990	.	1.074710	0.07470	N	0.902121	T	0.37865	0.1019	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.0;0.039	B;B	0.06405	0.0;0.002	T	0.22347	-1.0219	10	0.13108	T	0.6	.	2.8028	0.05419	0.0:0.6223:0.0:0.3777	.	177;165	D6W5L6;P07988	.;PSPB_HUMAN	Q	167;177;165;177;133	ENSP00000428719:R167Q;ENSP00000377409:R177Q;ENSP00000345161:R165Q;ENSP00000386346:R177Q	ENSP00000345161:R165Q	R	-	2	0	SFTPB	85746328	0.000000	0.05858	0.022000	0.16811	0.044000	0.14063	-1.761000	0.01805	0.503000	0.28060	0.506000	0.49869	CGG		0.667	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		18	76	0	0	0	1	0	18	76					T	85892817	C	T	85892817	3	4	27	1	0	0	0	0	1	0	0	0	14191	652	23	2	675	2	SFTPB	2	85892817	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08		85892817	157306556	7	493										
SLC9A4	389015	broad.mit.edu	37	chr2	103120167	103120167	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	tatctctccggcatcctggcGtgagtacaaaccaaggatca	9	12	2	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:103120167G>A	ENST00000295269.4	+	3	1437		c.e3+1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATCCTGGCGTGAGTACAAA	0.433																																						ENST00000295269.4																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e3+1		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							102	100	100					2																	103120167		2203	4300	6503	SO:0001630	splice_region_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120167G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.980+1G>A	2.37:g.103120167G>A								NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			3	1437	+								Q69YK0	Splice_Site	SNP	ENST00000295269.4	37		CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510328	0.85389	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A4	102486599	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	.		0.433	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	Intron	21	78	0	0	0	1	0	21	78					A	103120167	G	A	103120167	5	1	27	1	0	0	0	0	0	0	1	0	14716	1159	40	1	991	1	SLC9A4	2	103120167	Splice_Site	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	17227350	103120167	140079206	8	494										
POLR1B	84172	broad.mit.edu	37	chr2	113306903	113306903	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gtcatccgaatgttgattatGcctcggagaaattttcccat	8	9	1	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:113306903G>T	ENST00000263331.5	+	4	1132	c.552G>T	c.(550-552)atG>atT	p.M184I	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.M222I|POLR1B_ENST00000417433.2_Missense_Mutation_p.M128I|POLR1B_ENST00000409894.3_Missense_Mutation_p.M184I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	184					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGTTGATTATGCCTCGGAGAA	0.358																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(550-552)atG>atT		polymerase (RNA) I polypeptide B, 128kDa							77	81	80					2																	113306903		2202	4300	6502	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113306903G>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.552G>T	2.37:g.113306903G>T	ENSP00000263331:p.Met184Ile					POLR1B_ENST00000409894.3_Missense_Mutation_p.M184I|POLR1B_ENST00000541869.1_Missense_Mutation_p.M222I|POLR1B_ENST00000417433.2_Missense_Mutation_p.M128I|POLR1B_ENST00000537335.1_Intron	p.M184I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			4	1132	+			184					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.552G>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183546	0.78677	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.63	5.63	0.86233	RNA polymerase, beta subunit, protrusion (1);	0.035798	0.85682	D	0.000000	T	0.75598	0.3871	M	0.68952	2.095	0.80722	D	1	B;P;B;B	0.34864	0.359;0.473;0.008;0.051	B;B;B;B	0.35688	0.132;0.208;0.037;0.159	T	0.77003	-0.2749	10	0.59425	D	0.04	-21.7374	18.4811	0.90812	0.0:0.0:1.0:0.0	.	222;184;128;184	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	I	184;222;184;128	ENSP00000263331:M184I;ENSP00000444136:M222I;ENSP00000387143:M184I;ENSP00000405358:M128I	ENSP00000263331:M184I	M	+	3	0	POLR1B	113023374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.797000	0.99108	2.652000	0.90054	0.655000	0.94253	ATG		0.358	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		8	79	1	0	7.48243e-07	1	9.09629e-07	8	79					T	113306903	G	T	113306903	3	4	27	1	0	0	0	0	1	0	0	0	12210	1319	46	5	566	5	POLR1B	2	113306903	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	10186736	113306903	129892470	9	495										
CYTIP	9595	broad.mit.edu	37	chr2	158300465	158300465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gtgtggagtaagagctatacGctggcccagcgcagaagtcc	14	10	0	2	rs371636217		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:158300465G>A	ENST00000264192.3	-	1	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V	AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	23					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGAGCTATACGCTGGCCCAGC	0.512																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(67-69)gCg>gTg		cytohesin 1 interacting protein		G	VAL/ALA	0,4406		0,0,2203	165	152	157		68	4.8	0	2		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTIP	NM_004288.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	23/360	158300465	1,13005	2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300465G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.68C>T	2.37:g.158300465G>A	ENSP00000264192:p.Ala23Val					CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	p.A23V	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			1	189	-			23					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.68C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408227	0.25378	0.0	1.16E-4	ENSG00000115165	ENST00000264192	T	0.22134	1.97	5.72	4.84	0.62591	.	0.452988	0.21575	N	0.072345	T	0.12732	0.0309	L	0.27053	0.805	0.33753	D	0.620837	P	0.42161	0.772	B	0.30943	0.122	T	0.19321	-1.0309	10	0.33940	T	0.23	-3.0089	12.7687	0.57408	0.0:0.1645:0.8355:0.0	.	23	O60759	CYTIP_HUMAN	V	23	ENSP00000264192:A23V	ENSP00000264192:A23V	A	-	2	0	CYTIP	158008711	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	0.125000	0.15749	1.399000	0.46721	0.655000	0.94253	GCG		0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	76	0	0	0	1	0	7	76					A	158300465	G	A	158300465	3	1	27	1	0	0	0	0	1	0	0	0	4207	1087	38	1	1043	1	CYTIP	2	158300465	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	44993562	158300465	84898908	10	496										
MARCH7	64844	broad.mit.edu	37	chr2	160604779	160604779	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	atcttgacagcttcacagtcCcgtagtaatgtaccatcagc	7	12	3	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:160604779C>T	ENST00000259050.4	+	5	1100	c.978C>T	c.(976-978)tcC>tcT	p.S326S	MARCH7_ENST00000539065.1_Silent_p.S270S|MARCH7_ENST00000409591.1_Silent_p.S288S|MARCH7_ENST00000409175.1_Silent_p.S326S	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	326	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CTTCACAGTCCCGTAGTAATG	0.403																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(976-978)tcC>tcT		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							53	56	55					2																	160604779		2202	4300	6502	SO:0001819	synonymous_variant	64844						ligase activity|zinc ion binding	g.chr2:160604779C>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.978C>T	2.37:g.160604779C>T						MARCH7_ENST00000539065.1_Silent_p.S270S|MARCH7_ENST00000409175.1_Silent_p.S326S|MARCH7_ENST00000409591.1_Silent_p.S288S	p.S326S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1100	+			326			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	c.978C>T	CCDS2210.1																																																																																				0.403	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		4	53	0	0	0	1	0	4	53					T	160604779	C	T	160604779	2	4	27	1	0	0	0	0	0	0	0	1	9306	610	22	3		3	MARCH7	2	160604779	Silent	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	2304314	160604779	82594594	11	497										
SGOL1	151648	broad.mit.edu	37	chr3	20215850	20215850	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ctatctgaattgctcgtgggAttctgaatgtacttgcaagt	10	7	2	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:20215850A>T	ENST00000263753.4	-	6	1312	c.1173T>A	c.(1171-1173)aaT>aaA	p.N391K	SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.N391K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.N391K|SGOL1_ENST00000412868.1_Missense_Mutation_p.N391K|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	391					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGCTCGTGGGATTCTGAATGT	0.443																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1171-1173)aaT>aaA		shugoshin-like 1 (S. pombe)							149	145	146					3																	20215850		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215850A>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1173T>A	3.37:g.20215850A>T	ENSP00000263753:p.Asn391Lys					SGOL1_ENST00000421451.1_Missense_Mutation_p.N391K|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.N391K|SGOL1_ENST00000306698.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.N391K|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron	p.N391K	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1524	-			391					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.1173T>A	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	A	3.287	-0.145726	0.06627	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.28255	1.62;1.62;1.64;1.64	5.61	1.19	0.21007	.	1.432790	0.03697	N	0.248041	T	0.17746	0.0426	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.30763	0.294;0.294	B;B	0.24974	0.057;0.057	T	0.12889	-1.0530	10	0.25106	T	0.35	.	1.2845	0.02048	0.5292:0.1443:0.187:0.1395	.	391;391	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	K	391	ENSP00000263753:N391K;ENSP00000414129:N391K;ENSP00000410458:N391K;ENSP00000406880:N391K	ENSP00000263753:N391K	N	-	3	2	SGOL1	20190854	0.006000	0.16342	0.001000	0.08648	0.035000	0.12851	1.205000	0.32308	-0.030000	0.13804	0.459000	0.35465	AAT		0.443	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		24	78	0	0	0	1	0	24	78					T	20215850	A	T	20215850	3	4	27	1	0	0	0	0	1	0	0	0	14216	330	12	5	548	5	SGOL1	3	20215850	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08		20215850	177806580	12	498										
NPHP3	27031	broad.mit.edu	37	chr3	132407600	132407600	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ttccaacgcctgtttatacaGttgttctgcattgccaaact	6	11	1	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:132407600G>T	ENST00000337331.5	-	21	3105	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1007					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTTTATACAGTTGTTCTGCA	0.453																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3019-3021)Ctg>Atg		nephronophthisis 3 (adolescent)							140	136	138					3																	132407600		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132407600G>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3019C>A	3.37:g.132407600G>T	ENSP00000338766:p.Leu1007Met					NPHP3_ENST00000326682.8_3'UTR	p.L1007M	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			21	3105	-			1007					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3019C>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480723	0.44044	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	D	0.95001	-3.58	5.57	1.81	0.25067	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93510	0.6852	10	0.51188	T	0.08	-11.9624	9.5964	0.39576	0.3437:0.0:0.6563:0.0	.	1007	Q7Z494	NPHP3_HUMAN	M	287;69;1007	ENSP00000338766:L1007M	ENSP00000338766:L1007M	L	-	1	2	NPHP3	133890290	0.974000	0.33945	0.464000	0.27143	0.547000	0.35210	1.707000	0.37888	0.321000	0.23259	0.491000	0.48974	CTG		0.453	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		4	91	1	0	0.00909568	1	0.00924479	4	91					T	132407600	G	T	132407600	3	4	27	1	0	0	0	0	1	0	0	0	10580	1020	36	5	1001	5	NPHP3	3	132407600	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	112191750	132407600	65614830	13	499										
GPR149	344758	broad.mit.edu	37	chr3	154055525	154055525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	cttcctctctttttctgtaaGctttatttaacaactggatt	4	9	2	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:154055525G>A	ENST00000389740.2	-	4	2258	c.2159C>T	c.(2158-2160)gCt>gTt	p.A720V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	720					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A720V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTGTAAGCTTTATTTAA	0.433																																						ENST00000389740.2																			1	Substitution - Missense(1)	p.A720V(1)	ovary(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(2158-2160)gCt>gTt		G protein-coupled receptor 149							315	291	299					3																	154055525		1914	4119	6033	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055525G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2159C>T	3.37:g.154055525G>A	ENSP00000374390:p.Ala720Val						p.A720V	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2258	-			720						Missense_Mutation	SNP	ENST00000389740.2	37	c.2159C>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468079	0.84533	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	N	0.24115	0.695	0.58432	D	0.999994	D	0.56521	0.976	P	0.50192	0.634	T	0.55412	-0.8145	9	0.87932	D	0	-11.7316	14.7238	0.69329	0.0692:0.0:0.9308:0.0	.	720	Q86SP6	GP149_HUMAN	V	720	.	ENSP00000374390:A720V	A	-	2	0	GPR149	155538219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.433000	0.66520	1.456000	0.47831	0.650000	0.86243	GCT		0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		27	63	0	0	0	1	0	27	63					A	154055525	G	A	154055525	3	1	27	1	0	0	0	0	1	0	0	0	6654	971	34	3	40	3	GPR149	3	154055525	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	21647925	154055525	43966905	14	500										
GRIA2	2891	broad.mit.edu	37	chr4	158255181	158255181	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gattggctactggagtgaagTggacaaaatggttgttaccc	13	6	0	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr4:158255181T>C	ENST00000264426.9	+	9	1454	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	GRIA2_ENST00000393815.2_Missense_Mutation_p.V345A|GRIA2_ENST00000296526.7_Missense_Mutation_p.V392A|GRIA2_ENST00000507898.1_Missense_Mutation_p.V345A|GRIA2_ENST00000449365.1_Missense_Mutation_p.V345A	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	392					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGAGTGAAGTGGACAAAATG	0.398																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1174-1176)gTg>gCg		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						149	138	142					4																	158255181		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158255181T>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1175T>C	4.37:g.158255181T>C	ENSP00000264426:p.Val392Ala					GRIA2_ENST00000264426.9_Missense_Mutation_p.V392A|GRIA2_ENST00000449365.1_Missense_Mutation_p.V345A|GRIA2_ENST00000393815.2_Missense_Mutation_p.V345A|GRIA2_ENST00000507898.1_Missense_Mutation_p.V345A	p.V392A	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	9	1500	+	all_hematologic(180;0.24)	Renal(120;0.0458)	392					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1175T>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318713	0.23994	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.12147	2.71;2.71;2.76;2.76;2.71	5.5	5.5	0.81552	.	0.120060	0.56097	D	0.000032	T	0.08358	0.0208	N	0.11255	0.115	0.58432	D	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.30297	-0.9983	10	0.15952	T	0.53	.	15.8958	0.79333	0.0:0.0:0.0:1.0	.	392;392;345	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	A	345;345;392;392;345	ENSP00000426845:V345A;ENSP00000377403:V345A;ENSP00000296526:V392A;ENSP00000264426:V392A;ENSP00000389837:V345A	ENSP00000264426:V392A	V	+	2	0	GRIA2	158474631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.162000	0.58177	2.209000	0.71365	0.482000	0.46254	GTG		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			69	34	0	0	0	1	0	69	34					C	158255181	T	C	158255181	3	2	27	1	0	0	0	0	1	0	0	0	6768	1696	59	4	1209	4	GRIA2	4	158255181	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08		158255181	32899095	15	501										
PHF15	23338	broad.mit.edu	37	chr5	133914681	133914681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	tggcccctgagaccccggacGaggcagcctcagtagctgct	13	15	1	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr5:133914681G>A	ENST00000282605.4	+	12	2265	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Missense_Mutation_p.E684K|PHF15_ENST00000395003.1_Missense_Mutation_p.E683K																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCCGGACGAGGCAGCCTC	0.667																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(2047-2049)Gag>Aag									53	64	61					5																	133914681		2202	4299	6501	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914681G>A																												ENST00000282605.4:c.2179G>A	5.37:g.133914681G>A	ENSP00000282605:p.Glu727Lys					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Missense_Mutation_p.E727K|PHF15_ENST00000361895.2_Missense_Mutation_p.E684K	p.E683K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2226	+			683			Pro-rich.			Missense_Mutation	SNP	ENST00000282605.4	37	c.2047G>A		.	.	.	.	.	.	.	.	.	.	G	7.586	0.669852	0.14776	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.46819	0.86;0.89;0.89	4.89	1.8	0.24995	.	1.633890	0.03467	N	0.213030	T	0.25232	0.0613	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22941	-1.0202	10	0.07325	T	0.83	.	5.9915	0.19470	0.2302:0.1369:0.6329:0.0	.	683;684;743	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	K	686;743;727;684;684;683	ENSP00000282605:E727K;ENSP00000354425:E684K;ENSP00000378451:E683K	ENSP00000282605:E727K	E	+	1	0	PHF15	133942580	1.000000	0.71417	0.943000	0.38184	0.759000	0.43091	4.312000	0.59154	1.027000	0.39758	0.313000	0.20887	GAG		0.667	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			15	102	0	0	0	1	0	15	102					A	133914681	G	A	133914681	3	1	27	1	0	0	0	0	1	0	0	0	11826	1059	37	2	2085	2	PHF15	5	133914681	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		133914681	47000579	16	502										
PCDHB12	56124	broad.mit.edu	37	chr5	140590412	140590412	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	acaggctggtggtgctggtcAaggacaatggcgagcctccg	16	10	1	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr5:140590412A>G	ENST00000239450.2	+	1	2122	c.1933A>G	c.(1933-1935)Aag>Gag	p.K645E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.K308E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGTCAAGGACAATGG	0.721																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1933-1935)Aag>Gag									10	14	12					5																	140590412		1854	3633	5487	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590412A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1933A>G	5.37:g.140590412A>G	ENSP00000239450:p.Lys645Glu					PCDHB12_ENST00000541609.1_Missense_Mutation_p.K308E	p.K645E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2122	+			645			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1933A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068275	0.55539	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.52295	0.67;0.67	3.77	-0.46	0.12175	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54464	0.1860	M	0.63428	1.95	0.09310	N	1	P	0.46621	0.881	P	0.56216	0.794	T	0.47935	-0.9078	9	0.72032	D	0.01	.	6.086	0.19968	0.6015:0.3114:0.087:0.0	.	645	Q9Y5F1	PCDBC_HUMAN	E	308;645;265	ENSP00000440199:K308E;ENSP00000239450:K645E	ENSP00000239450:K645E	K	+	1	0	PCDHB12	140570596	0.000000	0.05858	0.214000	0.23707	0.965000	0.64279	-1.556000	0.02168	-0.275000	0.09219	0.392000	0.25879	AAG		0.721	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	63	0	0	0	1	0	12	63					G	140590412	A	G	140590412	3	3	27	1	0	0	0	0	1	0	0	0	11537	131	5	4	1935	4	PCDHB12	5	140590412	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08	6675731	140590412	40324848	17	503										
MAS1L	116511	broad.mit.edu	37	chr6	29454798	29454798	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	aaggaaattaaataggaggtGgtgacaaacattttgaaatc	10	3	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr6:29454798G>T	ENST00000377127.3	-	1	940	c.882C>A	c.(880-882)acC>acA	p.T294T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	294					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AATAGGAGGTGGTGACAAACA	0.483																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(880-882)acC>acA		MAS1 oncogene-like							42	47	45					6																	29454798		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454798G>T	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"GPCR / Class A : Orphans"	13961	protein-coding gene	gene with protein product		607235	"MAS1 oncogene-like"				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.882C>A	6.37:g.29454798G>T							p.T294T	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	940	-			294					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.882C>A	CCDS4661.1																																																																																				0.483	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		10	34	1	0	0.000978159	1	0.00108296	10	34					T	29454798	G	T	29454798	2	4	27	1	0	0	0	0	0	0	0	1	9321	1335	47	5		5	MAS1L	6	29454798	Silent	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		29454798	141660269	18	504										
SFRS18	25957	broad.mit.edu	37	chr6	99854007	99854007	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ctttcccactacttgcagccTcaacattttcagtgtcttct	4	14	4	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr6:99854007T>G	ENST00000369239.5	-	8	1106	c.902A>C	c.(901-903)gAg>gCg	p.E301A	PNISR_ENST00000438806.1_Missense_Mutation_p.E301A	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	301						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACTTGCAGCCTCAACATTTTC	0.393																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(901-903)gAg>gCg		PNN-interacting serine/arginine-rich protein							207	185	193					6																	99854007		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99854007T>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.902A>C	6.37:g.99854007T>G	ENSP00000358242:p.Glu301Ala					PNISR_ENST00000438806.1_Missense_Mutation_p.E301A	p.E301A	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			8	1106	-			301					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.902A>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469371	0.84533	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	.	0.046027	0.85682	D	0.000000	T	0.47710	0.1460	L	0.46741	1.465	0.80722	D	1	D	0.60160	0.987	P	0.53954	0.738	T	0.37842	-0.9688	10	0.27785	T	0.31	.	16.0108	0.80402	0.0:0.0:0.0:1.0	.	301	Q8TF01	PNISR_HUMAN	A	301	ENSP00000358242:E301A;ENSP00000387997:E301A	ENSP00000358242:E301A	E	-	2	0	PNISR	99960728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.302000	0.72788	2.242000	0.73789	0.482000	0.46254	GAG		0.393	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		7	52	0	0	0	1	0	7	52					G	99854007	T	G	99854007	3	3	27	1	0	0	0	0	1	0	0	0	14174	1551	54	5	1535	5	SFRS18	6	99854007	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08	70399209	99854007	71261060	19	505										
URGCP	55665	broad.mit.edu	37	chr7	43917245	43917245	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	cccctaggggctcaggccagAgcggctcccccacgtctgtg	13	17	2	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:43917245A>C	ENST00000453200.1	-	6	2310	c.1817T>G	c.(1816-1818)cTc>cGc	p.L606R	URGCP_ENST00000447717.3_Missense_Mutation_p.L563R|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.L563R|URGCP_ENST00000223341.7_Missense_Mutation_p.L563R|URGCP_ENST00000402306.3_Missense_Mutation_p.L597R|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L563R			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	606					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCAGGCCAGAGCGGCTCCCC	0.657																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1687-1689)cTc>cGc		upregulator of cell proliferation							51	59	57					7																	43917245		2010	4160	6170	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917245A>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1817T>G	7.37:g.43917245A>C	ENSP00000396918:p.Leu606Arg					URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L563R|URGCP_ENST00000402306.3_Missense_Mutation_p.L597R|URGCP_ENST00000223341.7_Missense_Mutation_p.L563R|URGCP_ENST00000453200.1_Missense_Mutation_p.L606R|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.L563R	p.L563R			Q8TCY9	URGCP_HUMAN			4	3924	-			606					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1688T>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	A	6.393	0.440684	0.12104	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.12255	2.71;2.71;2.71;2.71;2.7;2.71	5.79	0.488	0.16848	.	0.549649	0.18557	N	0.137727	T	0.09158	0.0226	L	0.36672	1.1	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.14578	0.011;0.011	T	0.23368	-1.0190	10	0.46703	T	0.11	-9.063	4.98	0.14160	0.5907:0.148:0.2613:0.0	.	597;606	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	R	563;563;597;563;606;563	ENSP00000223341:L563R;ENSP00000336872:L563R;ENSP00000384955:L597R;ENSP00000392136:L563R;ENSP00000396918:L606R;ENSP00000402803:L563R	ENSP00000223341:L563R	L	-	2	0	URGCP	43883770	0.001000	0.12720	0.013000	0.15412	0.514000	0.34195	0.533000	0.23082	0.121000	0.18284	0.533000	0.62120	CTC		0.657	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		21	62	0	0	0	1	0	21	62					C	43917245	A	C	43917245	3	2	27	1	0	0	0	0	1	0	0	0	17023	304	11	5	982	5	URGCP	7	43917245	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08		43917245	115221418	20	506										
ZSCAN21	7589	broad.mit.edu	37	chr7	99661935	99661935	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gcaaggctttcagcgggaaaGgcagcctcattcgtcactat	11	11	3	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:99661935G>T	ENST00000292450.4	+	4	1281	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K338N|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K338N	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	373					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAGCGGGAAAGGCAGCCTCAT	0.517																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1117-1119)Ggc>Tgc		zinc finger and SCAN domain containing 21							72	68	69					7																	99661935		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661935G>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1117G>T	7.37:g.99661935G>T	ENSP00000292450:p.Gly373Cys					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K338N|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K338N	p.G373C	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1281	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		373					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1117G>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517461|2.517461	0.44763|0.44763	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.07800|0.02236	3.16|4.38;4.38	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.358004|.	0.20632|.	N|.	0.088576|.	T|T	0.03651|0.03651	0.0104|0.0104	L|L	0.51853|0.51853	1.615|1.615	0.09310|0.09310	N|N	0.999996|0.999996	B|B	0.27229|0.21520	0.172|0.057	B|B	0.18871|0.24155	0.023|0.051	T|T	0.21008|0.21008	-1.0258|-1.0258	10|9	0.49607|0.87932	T|D	0.09|0	.|.	10.9123|10.9123	0.47116|0.47116	0.0:0.1902:0.8098:0.0|0.0:0.1902:0.8098:0.0	.|.	373|338	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	C|N	373;348|338	ENSP00000292450:G373C|ENSP00000441212:K338N;ENSP00000390960:K338N	ENSP00000292450:G373C|ENSP00000390960:K338N	G|K	+|+	1|3	0|2	ZSCAN21|ZSCAN21	99499871|99499871	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.919000|0.919000	0.55068|0.55068	-0.050000|-0.050000	0.11904|0.11904	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GGC|AAG		0.517	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		13	56	1	0	0.000151284	1	0.000170539	13	56					T	99661935	G	T	99661935	3	4	27	1	0	0	0	0	1	0	0	0	18230	1000	35	5	1127	5	ZSCAN21	7	99661935	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	55744690	99661935	59476728	21	507										
ORC5L	5001	broad.mit.edu	37	chr7	103807333	103807333	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	atgagtatgcgctgagaggcCtatataacaaaacactttga	9	7	0	3			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:103807333C>T	ENST00000297431.4	-	10	1020		c.e10-1		ORC5_ENST00000545943.1_Splice_Site	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GCTGAGAGGCCTATATAACAA	0.363																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.e11-1		origin recognition complex, subunit 5							83	86	85					7																	103807333		2203	4299	6502	SO:0001630	splice_region_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103807333C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 117"	602331	"origin recognition complex, subunit 5 (yeast homolog)-like", "origin recognition complex, subunit 5-like (yeast)", "origin recognition complex, subunit 5 homolog (yeast)"	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.878-1G>A	7.37:g.103807333C>T						ORC5_ENST00000297431.4_Splice_Site				O43913	ORC5_HUMAN			11	1107	-								A4D0P8|O60590|O95268	Splice_Site	SNP	ENST00000297431.4	37		CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327956	0.81690	.	.	ENSG00000164815	ENST00000297431;ENST00000545943	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7273	0.91718	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ORC5	103594569	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.092000	0.76930	2.515000	0.84797	0.491000	0.48974	.		0.363	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553	Intron	8	91	0	0	0	1	0	8	91					T	103807333	C	T	103807333	5	4	27	1	0	0	0	0	0	0	1	0	11265	695	24	3	450	3	ORC5L	7	103807333	Splice_Site	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	4145398	103807333	55331330	22	508										
PNPLA8	50640	broad.mit.edu	37	chr7	108143061	108143061	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	catccttaatttgtctcagtCgtaataaatatggaataatt	5	6	1	0	rs376735749		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:108143061C>A	ENST00000422087.1	-	6	1638	c.1232G>T	c.(1231-1233)cGa>cTa	p.R411L	PNPLA8_ENST00000426128.2_Missense_Mutation_p.R411L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R311L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R411L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R411L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	411					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTGTCTCAGTCGTAATAAATA	0.333																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1231-1233)cGa>cTa		patatin-like phospholipase domain containing 8							69	72	71					7																	108143061		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108143061C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1232G>T	7.37:g.108143061C>A	ENSP00000410804:p.Arg411Leu					PNPLA8_ENST00000436062.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R311L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R411L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R411L	p.R411L	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			4	1357	-			411					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1232G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468355	0.96274	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	M	0.76002	2.32	0.80722	D	1	D	0.55172	0.97	P	0.54664	0.758	T	0.08146	-1.0736	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	411	Q9NP80	PLPL8_HUMAN	L	411;411;411;411;311;411;311	ENSP00000394988:R411L;ENSP00000257694:R411L;ENSP00000373380:R411L;ENSP00000410804:R411L;ENSP00000387789:R311L;ENSP00000406779:R411L;ENSP00000402274:R311L	ENSP00000257694:R411L	R	-	2	0	PNPLA8	107930297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.054000	0.71096	2.894000	0.99253	0.591000	0.81541	CGA		0.333	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		15	32	1	0	0.00244969	1	0.00261864	15	32					A	108143061	C	A	108143061	3	1	27	1	0	0	0	0	1	0	0	0	12171	884	31	5	1144	5	PNPLA8	7	108143061	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	4335728	108143061	50995602	23	509										
ZFHX4	79776	broad.mit.edu	37	chr8	77763289	77763289	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ccgacacactgcaagatcaaTtaaatgaacagcaaaaaagg	7	9	1	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr8:77763289T>G	ENST00000521891.2	+	10	4580	c.4132T>G	c.(4132-4134)Tta>Gta	p.L1378V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1352V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1333V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1333V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAGATCAATTAAATGAACA	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4132-4134)Tta>Gta		zinc finger homeobox 4							103	96	98					8																	77763289		1869	4108	5977	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763289T>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4132T>G	8.37:g.77763289T>G	ENSP00000430497:p.Leu1378Val	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1333V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1352V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1333V	p.L1378V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4580	+			1333					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4132T>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	9.778	1.174524	0.21704	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.75;0.72;0.72	4.65	-5.25	0.02781	.	0.000000	0.34460	U	0.003946	T	0.59636	0.2208	M	0.68317	2.08	0.33218	D	0.554333	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.80764	0.987;0.994;0.994	T	0.65825	-0.6074	10	0.31617	T	0.26	.	16.2638	0.82563	0.0:0.7346:0.0:0.2654	.	1333;1333;1378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	1378;1378;1333;1333;1352	ENSP00000430497:L1378V;ENSP00000399605:L1333V;ENSP00000050961:L1333V;ENSP00000430848:L1352V	ENSP00000050961:L1333V	L	+	1	2	ZFHX4	77925844	0.124000	0.22315	0.013000	0.15412	0.740000	0.42216	0.060000	0.14342	-0.963000	0.03600	0.454000	0.30748	TTA		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	17	0	0	0	1	0	11	17					G	77763289	T	G	77763289	3	3	27	1	0	0	0	0	1	0	0	0	17632	1490	52	5	4166	5	ZFHX4	8	77763289	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08		77763289	68600733	24	510										
DCAF4L2	138009	broad.mit.edu	37	chr8	88886083	88886083	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gctatacggcaatagttggcGaatctgaggaaacctagctg	12	8	1	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522																																						ENST00000319675.3																			2	Substitution - coding silent(2)	p.F39F(2)	large_intestine(2)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(115-117)ttC>ttT		DDB1 and CUL4 associated factor 4-like 2							90	81	84					8																	88886083		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88886083G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.117C>T	8.37:g.88886083G>A							p.F39F	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	213	-			39						Silent	SNP	ENST00000319675.3	37	c.117C>T	CCDS6245.1																																																																																				0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		10	32	0	0	0	1	0	10	32					A	88886083	G	A	88886083	2	1	27	1	0	0	0	0	0	0	0	1	4272	1049	37	2		2	DCAF4L2	8	88886083	Silent	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	11122794	88886083	57477939	25	511										
RALGDS	5900	broad.mit.edu	37	chr9	135976954	135976954	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gtccacgtccaggctgacgcGgatgatacagcagtcgccca	12	14	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr9:135976954G>C	ENST00000372050.3	-	16	2428	c.2407C>G	c.(2407-2409)Cgc>Ggc	p.R803G	RALGDS_ENST00000372062.3_Missense_Mutation_p.R774G|RALGDS_ENST00000393160.3_Missense_Mutation_p.R748G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R791G|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.R802G|RALGDS_ENST00000542690.1_Missense_Mutation_p.R874G	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2242-2244)Cgc>Ggc		ral guanine nucleotide dissociation stimulator							98	101	100					9																	135976954		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135976954G>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2407C>G	9.37:g.135976954G>C	ENSP00000361120:p.Arg803Gly					RALGDS_ENST00000372062.3_Missense_Mutation_p.R774G|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.R803G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R791G|RALGDS_ENST00000393157.3_Missense_Mutation_p.R802G|RALGDS_ENST00000542690.1_Missense_Mutation_p.R874G	p.R748G	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2595	-			803					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2242C>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776380	0.70107	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.12	4.13	0.48395	Ras-association (3);	0.000000	0.64402	D	0.000002	T	0.54287	0.1849	M	0.86028	2.79	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.966;0.99;0.999;0.955;0.997;0.997;1.0	T	0.61983	-0.6950	10	0.87932	D	0	.	13.3443	0.60564	0.0:0.0:0.7929:0.2071	.	874;774;791;748;802;791;803	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	G	803;791;748;802;874;774	ENSP00000361120:R803G;ENSP00000361117:R791G;ENSP00000376867:R748G;ENSP00000376864:R802G;ENSP00000437518:R874G;ENSP00000361132:R774G	ENSP00000361117:R791G	R	-	1	0	RALGDS	134966775	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	4.196000	0.58407	1.059000	0.40554	0.462000	0.41574	CGC		0.642	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		5	90	0	0	0	1	0	5	90					C	135976954	G	C	135976954	3	2	27	1	0	0	0	0	1	0	0	0	13016	1116	39	5	349	5	RALGDS	9	135976954	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		135976954	5236477	26	512										
OR51B4	79339	broad.mit.edu	37	chr11	5323027	5323027	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	atgggctcatggaggctgtgAtcattccaaatgaggacaag	13	7	2	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:5323027A>T	ENST00000380224.1	-	1	199	c.150T>A	c.(148-150)gaT>gaA	p.D50E	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	50					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGCTGTGATCATTCCAAA	0.502																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(148-150)gaT>gaA		olfactory receptor, family 51, subfamily B, member 4							100	95	97					11																	5323027		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5323027A>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"GPCR / Class A : Olfactory receptors"	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.150T>A	11.37:g.5323027A>T	ENSP00000369573:p.Asp50Glu					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.D50E	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	199	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	50					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.150T>A	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.123425	0.00346	.	.	ENSG00000183251	ENST00000380224	T	0.03951	3.75	4.39	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.120271	0.37178	N	0.002211	T	0.02571	0.0078	L	0.35542	1.07	0.09310	N	1	B	0.23735	0.09	B	0.27076	0.076	T	0.44065	-0.9352	10	0.02654	T	1	.	1.731	0.02931	0.2428:0.1402:0.4731:0.1439	.	50	Q9Y5P0	O51B4_HUMAN	E	50	ENSP00000369573:D50E	ENSP00000369573:D50E	D	-	3	2	OR51B4	5279603	0.000000	0.05858	0.006000	0.13384	0.071000	0.16799	-2.563000	0.00919	0.126000	0.18424	-0.146000	0.13790	GAT		0.502	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		17	39	0	0	0	1	0	17	39					T	5323027	A	T	5323027	3	4	27	1	0	0	0	0	1	0	0	0	11090	330	12	5	785	5	OR51B4	11	5323027	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08		5323027	129683489	27	513										
C2CD3	26005	broad.mit.edu	37	chr11	73760382	73760382	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	atgtgaatctccatacatacCagtgattttgaggtctccac	7	10	2	3			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:73760382C>A	ENST00000334126.7	-	27	5587	c.5361G>T	c.(5359-5361)ctG>ctT	p.L1787L	C2CD3_ENST00000313663.7_Splice_Site_p.L1787L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1787					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATACATACCAGTGATTTTG	0.438																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.e27+1		C2 calcium-dependent domain containing 3							181	138	153					11																	73760382		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73760382C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5361+1G>T	11.37:g.73760382C>A						C2CD3_ENST00000313663.7_Splice_Site_p.L1787_splice	p.L1787_splice			Q4AC94	C2CD3_HUMAN			27	5587	-	Breast(11;4.16e-06)		1787					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Splice_Site	SNP	ENST00000334126.7	37	c.5361_splice		.	.	.	.	.	.	.	.	.	.	C	4.895	0.166419	0.09339	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.83	3.87	0.44632	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-1.7467	4.9681	0.14100	0.0:0.6393:0.2017:0.159	.	.	.	.	Y	21	.	.	D	-	1	0	C2CD3	73438030	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	0.725000	0.25970	2.756000	0.94617	0.655000	0.94253	GAT		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Silent	8	23	1	0	0.00448238	1	0.0047103	8	23					A	73760382	C	A	73760382	5	1	27	1	0	0	0	0	0	0	1	0	2154	608	21	5	550	5	C2CD3	11	73760382	Splice_Site	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	68437355	73760382	61246134	28	514										
ARHGEF12	23365	broad.mit.edu	37	chr11	120349003	120349003	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ggaacaacatacagatgggaCactaaaggaagttggagaag	13	5	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:120349003C>T	ENST00000397843.2	+	37	3837	c.3671C>T	c.(3670-3672)aCa>aTa	p.T1224I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1121I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1205I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1224					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACAGATGGGACACTAAAGGAA	0.443			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3670-3672)aCa>aTa		Rho guanine nucleotide exchange factor (GEF) 12							99	92	94					11																	120349003		1919	4142	6061	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120349003C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3671C>T	11.37:g.120349003C>T	ENSP00000380942:p.Thr1224Ile					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1121I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1205I	p.T1224I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	37	3837	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1224					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3671C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412045	0.42817	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66638	-0.12;-0.22;-0.11	5.48	5.48	0.80851	.	0.267525	0.26578	N	0.023595	T	0.51873	0.1700	N	0.14661	0.345	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.24394	0.053;0.024	T	0.41161	-0.9524	10	0.32370	T	0.25	-2.2724	16.866	0.86029	0.0:1.0:0.0:0.0	.	1205;1224	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	I	1224;1205;1121	ENSP00000380942:T1224I;ENSP00000349056:T1205I;ENSP00000432984:T1121I	ENSP00000349056:T1205I	T	+	2	0	ARHGEF12	119854213	0.006000	0.16342	0.178000	0.23040	0.918000	0.54935	1.303000	0.33470	2.722000	0.93159	0.655000	0.94253	ACA		0.443	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		10	37	0	0	0	1	0	10	37					T	120349003	C	T	120349003	3	4	27	1	0	0	0	0	1	0	0	0	897	478	17	3	3817	3	ARHGEF12	11	120349003	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	46588621	120349003	14657513	29	515										
METTL1	25895	broad.mit.edu	37	chr12	58163425	58163425	+	5'Flank	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	cttgtgctttgtccgcttgaAatgtgggtcggggaagagga	16	6	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:58163425A>C	ENST00000300209.8	+	0	0				METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000257848.7_Missense_Mutation_p.F104C|CYP27B1_ENST00000228606.4_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.F166V	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GTCCGCTTGAAATGTGGGTCG	0.547																																						ENST00000324871.7																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(496-498)Ttc>Gtc		methyltransferase like 1							168	153	158					12																	58163425		2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58163425A>C	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163425A>C	Exception_encountered					METTL1_ENST00000257848.7_Missense_Mutation_p.F104C	p.F166V	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		4	1205	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		166					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.496T>G	CCDS8957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.695902|4.695902	0.88830|0.88830	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000257848;ENST00000547653|ENST00000324871	.|T	.|0.42513	.|0.97	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.051811|0.051811	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76428|0.76428	0.3986|0.3986	H|H	0.97340|0.97340	3.985|3.985	0.37676|0.37676	D|D	0.923321|0.923321	D|D	0.60575|0.59357	0.988|0.985	P|D	0.56514|0.71414	0.8|0.973	D|D	0.86854|0.86854	0.2025|0.2025	9|10	0.87932|0.72032	D|D	0|0.01	-15.0823|-15.0823	14.9401|14.9401	0.70986|0.70986	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	104|166	Q53FS9|Q9UBP6	.|TRMB_HUMAN	C|V	104;5|166	.|ENSP00000314441:F166V	ENSP00000257848:F104C|ENSP00000314441:F166V	F|F	-|-	2|1	0|0	METTL1|METTL1	56449692|56449692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.781000|8.781000	0.91805|0.91805	2.172000|2.172000	0.68678|0.68678	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.547	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		21	114	0	0	0	1	0	21	114					C	58163425	A	C	58163425	1	2	27	0	1	0	0	0	0	0	0	0	9493	14	1	5		5	METTL1	12	58163425	5'Flank	SNP	A	TCGA-QR-A700-01A-11D-A35D-08		58163425	75688470	30	516										
KIAA1033	23325	broad.mit.edu	37	chr12	105540917	105540917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	acatggcacgggaattatgaAtacaactgtaagaacttttc	8	7	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:105540917A>G	ENST00000332180.5	+	24	2594	c.2507A>G	c.(2506-2508)aAt>aGt	p.N836S		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGAATTATGAATACAACTGTA	0.353																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2506-2508)aAt>aGt		KIAA1033							68	63	65					12																	105540917		1823	4075	5898	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105540917A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2507A>G	12.37:g.105540917A>G	ENSP00000328062:p.Asn836Ser						p.N836S	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			24	2594	+			836						Missense_Mutation	SNP	ENST00000332180.5	37	c.2507A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555297	0.45487	.	.	ENSG00000136051	ENST00000332180	T	0.52526	0.66	5.68	4.52	0.55395	.	0.039324	0.85682	D	0.000000	T	0.38374	0.1038	L	0.41961	1.31	0.58432	D	0.999999	B;P	0.42556	0.241;0.783	B;B	0.39771	0.138;0.309	T	0.27088	-1.0084	10	0.62326	D	0.03	.	7.673	0.28470	0.7881:0.1419:0.0699:0.0	.	837;836	B7ZKT9;Q2M389	.;WASH7_HUMAN	S	836	ENSP00000328062:N836S	ENSP00000328062:N836S	N	+	2	0	KIAA1033	104065047	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.524000	0.81866	1.071000	0.40834	-0.438000	0.05819	AAT		0.353	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		22	85	0	0	0	1	0	22	85					G	105540917	A	G	105540917	3	3	27	1	0	0	0	0	1	0	0	0	8206	101	4	4	2601	4	KIAA1033	12	105540917	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08	47377492	105540917	28310978	31	517										
GIT2	9815	broad.mit.edu	37	chr12	110385263	110385263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gcacctgatatacattggttGtggcctgtttcctgaggttc	11	9	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:110385263G>C	ENST00000355312.3	-	15	1438	c.1439C>G	c.(1438-1440)aCa>aGa	p.T480R	GIT2_ENST00000551209.1_Missense_Mutation_p.T429R|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.T430R|GIT2_ENST00000457474.2_Missense_Mutation_p.T432R|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.T432R|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.T480R|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.T400R	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	480					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TACATTGGTTGTGGCCTGTTT	0.468																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1288-1290)aCa>aGa		G protein-coupled receptor kinase interacting ArfGAP 2							152	145	147					12																	110385263		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110385263G>C	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1439C>G	12.37:g.110385263G>C	ENSP00000347464:p.Thr480Arg					TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.T432R|GIT2_ENST00000361006.5_Missense_Mutation_p.T480R|GIT2_ENST00000354574.4_Missense_Mutation_p.T432R|GIT2_ENST00000343646.5_Missense_Mutation_p.T400R|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.T480R|GIT2_ENST00000551209.1_Missense_Mutation_p.T429R|GIT2_ENST00000547815.1_3'UTR	p.T430R			Q14161	GIT2_HUMAN			14	1453	-			480					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1289C>G	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281740	0.40394	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.74526	-0.62;-0.71;-0.85;-0.77;-0.81;-0.62;-0.74	5.97	5.07	0.68467	.	0.239258	0.48767	D	0.000172	T	0.69088	0.3072	L	0.57536	1.79	0.80722	D	1	P;P;B;B;P	0.39940	0.534;0.534;0.028;0.029;0.696	B;B;B;B;B	0.35813	0.142;0.211;0.024;0.01;0.189	T	0.67197	-0.5731	10	0.20046	T	0.44	.	16.3183	0.82936	0.0:0.1323:0.8676:0.0	.	432;432;480;418;480	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	R	480;430;432;400;432;480;429;418	ENSP00000347464:T480R;ENSP00000353312:T430R;ENSP00000346585:T432R;ENSP00000340938:T400R;ENSP00000391813:T432R;ENSP00000354282:T480R;ENSP00000448832:T429R	ENSP00000340938:T400R	T	-	2	0	GIT2	108869646	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	8.991000	0.93514	1.519000	0.48950	-0.310000	0.09108	ACA		0.468	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		18	80	0	0	0	1	0	18	80					C	110385263	G	C	110385263	3	2	27	1	0	0	0	0	1	0	0	0	6397	1377	48	5	864	5	GIT2	12	110385263	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	4844346	110385263	23466632	32	518										
POLE	5426	broad.mit.edu	37	chr12	133225531	133225531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ctaccttgcgatacgaagcaCcctcctccgctttagcgact	7	16	0	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:133225531C>T	ENST00000320574.5	-	32	4176	c.4133G>A	c.(4132-4134)gGt>gAt	p.G1378D	POLE_ENST00000535270.1_Missense_Mutation_p.G1351D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1378					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATACGAAGCACCCTCCTCCGC	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4132-4134)gGt>gAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							141	97	112					12																	133225531		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225531C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4133G>A	12.37:g.133225531C>T	ENSP00000322570:p.Gly1378Asp					POLE_ENST00000535270.1_Missense_Mutation_p.G1351D	p.G1378D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	32	4176	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1378					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4133G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868598	0.32977	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	T;T;T;T	0.16743	2.32;2.32;2.32;2.51	5.55	5.55	0.83447	.	0.048502	0.85682	D	0.000000	T	0.23611	0.0571	L	0.60067	1.865	0.58432	D	0.999999	B;B	0.20368	0.044;0.002	B;B	0.23574	0.047;0.003	T	0.02070	-1.1219	10	0.39692	T	0.17	.	19.5576	0.95358	0.0:1.0:0.0:0.0	.	1351;1378	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1378;1389;1351;1158	ENSP00000322570:G1378D;ENSP00000406383:G1389D;ENSP00000445753:G1351D;ENSP00000442519:G1158D	ENSP00000322570:G1378D	G	-	2	0	POLE	131735604	1.000000	0.71417	0.704000	0.30370	0.010000	0.07245	5.893000	0.69798	2.627000	0.88993	0.505000	0.49811	GGT		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		19	74	0	0	0	1	0	19	74					T	133225531	C	T	133225531	3	4	27	1	0	0	0	0	1	0	0	0	12196	507	18	3	2799	3	POLE	12	133225531	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	22840268	133225531	626364	33	519										
GPR180	160897	broad.mit.edu	37	chr13	95278279	95278279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	tgcatttctgtcatttttagCgactaccaaagagacaaggt	8	8	2	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr13:95278279C>T	ENST00000376958.4	+	8	1171	c.1146C>T	c.(1144-1146)agC>agT	p.S382S		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	382					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCATTTTTAGCGACTACCAAA	0.338																																						ENST00000376958.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.(1144-1146)agC>agT		G protein-coupled receptor 180							139	121	127					13																	95278279		2203	4300	6503	SO:0001819	synonymous_variant	160897					integral to membrane		g.chr13:95278279C>T	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.1146C>T	13.37:g.95278279C>T							p.S382S	NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN			8	1171	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		382					A8K1D5	Silent	SNP	ENST00000376958.4	37	c.1146C>T	CCDS9472.1																																																																																				0.338	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		3	43	0	0	0	1	0	3	43					T	95278279	C	T	95278279	2	4	27	1	0	0	0	0	0	0	0	1	6676	767	27	1		1	GPR180	13	95278279	Silent	SNP	C	TCGA-QR-A700-01A-11D-A35D-08		95278279	19891599	34	520										
OR4K1	79544	broad.mit.edu	37	chr14	20404202	20404202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	atatgacagatttatagccaTatgtaagcctctgcactaca	6	9	1	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr14:20404202T>C	ENST00000285600.4	+	1	436	c.377T>C	c.(376-378)aTa>aCa	p.I126T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTATAGCCATATGTAAGCCT	0.448																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(376-378)aTa>aCa		olfactory receptor, family 4, subfamily K, member 1							135	129	131					14																	20404202		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404202T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.377T>C	14.37:g.20404202T>C	ENSP00000285600:p.Ile126Thr						p.I126T	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	436	+	all_cancers(95;0.00108)		126					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.377T>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	17.52	3.408920	0.62399	.	.	ENSG00000155249	ENST00000285600	T	0.59224	0.28	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.82632	0.5079	H	0.96861	3.895	0.42982	D	0.994463	D	0.76494	0.999	D	0.72982	0.979	D	0.88178	0.2869	10	0.87932	D	0	.	12.5899	0.56437	0.0:0.0:0.0:1.0	.	126	Q8NGD4	OR4K1_HUMAN	T	126	ENSP00000285600:I126T	ENSP00000285600:I126T	I	+	2	0	OR4K1	19474042	1.000000	0.71417	0.889000	0.34880	0.743000	0.42351	7.091000	0.76923	2.066000	0.61787	0.533000	0.62120	ATA		0.448	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			23	209	0	0	0	1	0	23	209					C	20404202	T	C	20404202	3	2	27	1	0	0	0	0	1	0	0	0	11067	1406	49	4	379	4	OR4K1	14	20404202	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08		20404202	86945338	35	521										
NYNRIN	57523	broad.mit.edu	37	chr14	24879189	24879189	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gggtccccagtccagtggcaCcttggccctcagcagtaagc	12	15	1	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr14:24879189C>T	ENST00000382554.3	+	4	2507	c.2189C>T	c.(2188-2190)aCc>aTc	p.T730I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	730					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCAGTGGCACCTTGGCCCTC	0.637																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2188-2190)aCc>aTc		NYN domain and retroviral integrase containing							24	28	27					14																	24879189		1959	4137	6096	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24879189C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2189C>T	14.37:g.24879189C>T	ENSP00000371994:p.Thr730Ile						p.T730I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	2507	+			730					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2189C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806350	0.70682	.	.	ENSG00000205978	ENST00000382554	T	0.11821	2.74	4.48	3.57	0.40892	.	.	.	.	.	T	0.15176	0.0366	L	0.27053	0.805	0.25441	N	0.988094	D	0.58620	0.983	P	0.50314	0.637	T	0.07947	-1.0746	9	0.87932	D	0	.	9.8008	0.40764	0.2056:0.7944:0.0:0.0	.	730	Q9P2P1	NYNRI_HUMAN	I	730	ENSP00000371994:T730I	ENSP00000371994:T730I	T	+	2	0	NYNRIN	23949029	0.003000	0.15002	0.884000	0.34674	0.315000	0.28087	0.299000	0.19138	1.211000	0.43351	0.655000	0.94253	ACC		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			17	9	0	0	0	1	0	17	9					T	24879189	C	T	24879189	3	4	27	1	0	0	0	0	1	0	0	0	10796	507	18	3	2199	3	NYNRIN	14	24879189	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	4474987	24879189	82470351	36	522										
SCNN1B	6338	broad.mit.edu	37	chr16	23366679	23366679	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	accagtgctacccaggcattGacagagtggtacatcctgca	10	12	0	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:23366679G>A	ENST00000343070.2	+	4	821	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000568085.1_Silent_p.L215L|SCNN1B_ENST00000307331.5_Silent_p.L260L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	215					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCAGGCATTGACAGAGTGGT	0.577																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(643-645)ttG>ttA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						143	104	117					16																	23366679		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23366679G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.645G>A	16.37:g.23366679G>A						SCNN1B_ENST00000307331.5_Silent_p.L260L|SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000568085.1_Silent_p.L215L	p.L215L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	4	821	+			215					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.645G>A	CCDS10609.1																																																																																				0.577	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			7	33	0	0	0	1	0	7	33					A	23366679	G	A	23366679	2	1	27	1	0	0	0	0	0	0	0	1	13928	1281	45	3		3	SCNN1B	16	23366679	Silent	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		23366679	66988074	37	523										
SNX20	124460	broad.mit.edu	37	chr16	50707709	50707709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gaaagcctcgcgcagctccgGccgcgtgaggaagtccagga	15	13	0	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:50707709G>T	ENST00000330943.4	-	4	730	c.559C>A	c.(559-561)Ccg>Acg	p.P187T	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	187	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGCAGCTCCGGCCGCGTGAGG	0.726																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(559-561)Ccg>Acg		sorting nexin 20							11	13	12					16																	50707709		2190	4291	6481	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707709G>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.559C>A	16.37:g.50707709G>T	ENSP00000332062:p.Pro187Thr					SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.P187T	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	730	-			187			PX.		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.559C>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961304	0.53400	.	.	ENSG00000167208	ENST00000330943	T	0.30182	1.54	5.63	4.65	0.58169	Phox homologous domain (4);	0.476115	0.23870	N	0.043754	T	0.52789	0.1756	M	0.75264	2.295	0.20926	N	0.999826	D	0.64830	0.994	D	0.63793	0.918	T	0.44636	-0.9315	10	0.40728	T	0.16	-37.9801	15.7	0.77536	0.0:0.171:0.829:0.0	.	187	Q7Z614	SNX20_HUMAN	T	187	ENSP00000332062:P187T	ENSP00000332062:P187T	P	-	1	0	SNX20	49265210	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	4.083000	0.57643	2.664000	0.90586	0.561000	0.74099	CCG		0.726	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		3	8	1	0	0.004672	1	0.00482773	3	8					T	50707709	G	T	50707709	3	4	27	1	0	0	0	0	1	0	0	0	14892	1203	42	5	538	5	SNX20	16	50707709	Missense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08	27341030	50707709	39647044	38	524										
BCAR1	9564	broad.mit.edu	37	chr16	75263909	75263909	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	cacctcctgttccagtcgttCaaactgcttcagctggggca	9	14	2	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:75263909C>A	ENST00000162330.5	-	7	2239	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*	BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E723*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E703*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E705*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E557*|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E723*|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E723*|BCAR1_ENST00000546196.1_Nonsense_Mutation_p.E676*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E751*	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	705					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCAGTCGTTCAAACTGCTTC	0.667																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2026-2028)Gaa>Taa		breast cancer anti-estrogen resistance 1							29	34	33					16																	75263909		2157	4228	6385	SO:0001587	stop_gained	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263909C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2113G>T	16.37:g.75263909C>A	ENSP00000162330:p.Glu705*					BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E557*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E703*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E723*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E723*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E705*|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E705*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E751*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E723*	p.E676*			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3678	-			705					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Nonsense_Mutation	SNP	ENST00000162330.5	37	c.2026G>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	38	7.163784	0.98107	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-40.4241	16.6397	0.85068	0.0:1.0:0.0:0.0	.	.	.	.	X	705;723;723;705;751;557;723;703;676	.	ENSP00000162330:E705X	E	-	1	0	BCAR1	73821410	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.983000	0.49345	2.328000	0.79073	0.557000	0.71058	GAA		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		6	32	1	0	0.00198382	1	0.00215784	6	32					A	75263909	C	A	75263909	4	1	27	1	0	0	0	0	0	1	0	0	1348	835	29	5	503	5	BCAR1	16	75263909	Nonsense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	24556200	75263909	15090844	39	525										
SERPINF1	5176	broad.mit.edu	37	chr17	1675256	1675256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gggcaaccctcgcttggaccTgcaagagatcaacaactggg	12	12	1	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr17:1675256T>G	ENST00000254722.4	+	5	693	c.530T>G	c.(529-531)cTg>cGg	p.L177R		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	177					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CGCTTGGACCTGCAAGAGATC	0.542																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(529-531)cTg>cGg		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							82	76	78					17																	1675256		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1675256T>G	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.530T>G	17.37:g.1675256T>G	ENSP00000254722:p.Leu177Arg						p.L177R	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			5	693	+			177					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.530T>G	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747907	0.49257	.	.	ENSG00000132386	ENST00000254722	D	0.82433	-1.61	5.79	4.71	0.59529	Serpin domain (3);	0.181464	0.49305	D	0.000148	D	0.87589	0.6215	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84513	0.0623	10	0.08179	T	0.78	.	12.4497	0.55671	0.1257:0.0:0.0:0.8743	.	177	P36955	PEDF_HUMAN	R	177	ENSP00000254722:L177R	ENSP00000254722:L177R	L	+	2	0	SERPINF1	1622006	1.000000	0.71417	0.991000	0.47740	0.014000	0.08584	2.956000	0.49129	1.018000	0.39521	-0.378000	0.06908	CTG		0.542	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		8	26	0	0	0	1	0	8	26					G	1675256	T	G	1675256	3	3	27	1	0	0	0	0	1	0	0	0	14114	1580	55	5	544	5	SERPINF1	17	1675256	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08		1675256	79519954	40	526										
SETBP1	26040	broad.mit.edu	37	chr18	42532687	42532687	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ttagcatgggccttggtgacAtgcagccttctctgaaccct	10	12	1	2			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr18:42532687A>G	ENST00000282030.5	+	4	3678	c.3382A>G	c.(3382-3384)Atg>Gtg	p.M1128V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1128						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTTGGTGACATGCAGCCTTC	0.522									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(3382-3384)Atg>Gtg		SET binding protein 1							110	89	96					18																	42532687		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532687A>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3382A>G	18.37:g.42532687A>G	ENSP00000282030:p.Met1128Val						p.M1128V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3678	+			1128					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3382A>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	4.895	0.166281	0.09339	.	.	ENSG00000152217	ENST00000282030	T	0.66995	-0.24	5.88	3.35	0.38373	.	0.289185	0.39615	N	0.001307	T	0.41627	0.1167	N	0.24115	0.695	0.22199	N	0.999296	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	10	0.06494	T	0.89	.	4.2198	0.10552	0.6746:0.1316:0.0678:0.1259	.	1128	Q9Y6X0	SETBP_HUMAN	V	1128	ENSP00000282030:M1128V	ENSP00000282030:M1128V	M	+	1	0	SETBP1	40786685	1.000000	0.71417	0.923000	0.36655	0.954000	0.61252	2.228000	0.42981	1.040000	0.40099	0.459000	0.35465	ATG		0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		13	70	0	0	0	1	0	13	70					G	42532687	A	G	42532687	3	3	27	1	0	0	0	0	1	0	0	0	14129	217	8	4	3585	4	SETBP1	18	42532687	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08		42532687	35544561	41	527										
PGLYRP2	114770	broad.mit.edu	37	chr19	15582761	15582761	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	agcgctgcatggagcgcatgTtggctgcgcagcgcgtgaag	17	10	0	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr19:15582761T>C	ENST00000340880.4	-	3	1763	c.1283A>G	c.(1282-1284)aAc>aGc	p.N428S	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.N428S	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	428					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGCGCATGTTGGCTGCGCA	0.677																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1282-1284)aAc>aGc		peptidoglycan recognition protein 2							60	50	54					19																	15582761		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15582761T>C	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1283A>G	19.37:g.15582761T>C	ENSP00000345968:p.Asn428Ser					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.N428S	p.N428S			Q96PD5	PGRP2_HUMAN			3	1412	-			428					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1283A>G	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584867	0.46110	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.13778	2.56;2.56	4.62	2.51	0.30379	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.284770	0.37857	N	0.001914	T	0.09113	0.0225	L	0.28115	0.83	0.25133	N	0.990552	B;B	0.25007	0.027;0.116	B;B	0.25759	0.024;0.063	T	0.25328	-1.0135	10	0.44086	T	0.13	-12.6412	7.2827	0.26320	0.0:0.1914:0.0:0.8086	.	428;428	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	S	428	ENSP00000345968:N428S;ENSP00000292609:N428S	ENSP00000292609:N428S	N	-	2	0	PGLYRP2	15443761	0.992000	0.36948	0.944000	0.38274	0.699000	0.40488	2.224000	0.42945	0.167000	0.19631	-0.379000	0.06801	AAC		0.677	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		14	29	0	0	0	1	0	14	29					C	15582761	T	C	15582761	3	2	27	1	0	0	0	0	1	0	0	0	11794	1725	60	4	459	4	PGLYRP2	19	15582761	Missense_Mutation	SNP	T	TCGA-QR-A700-01A-11D-A35D-08		15582761	43546222	42	528										
LRRC25	126364	broad.mit.edu	37	chr19	18507760	18507760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gcaacagcagcgtccatgccAgggtgccccccattcaagca	10	16	1	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr19:18507760A>C	ENST00000339007.3	-	1	667	c.14T>G	c.(13-15)cTg>cGg	p.L5R	LRRC25_ENST00000595840.1_Missense_Mutation_p.L5R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	5						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CGTCCATGCCAGGGTGCCCCC	0.617																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(13-15)cTg>cGg		leucine rich repeat containing 25							27	25	26					19																	18507760		2202	4298	6500	SO:0001583	missense	126364					integral to membrane		g.chr19:18507760A>C	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.14T>G	19.37:g.18507760A>C	ENSP00000340983:p.Leu5Arg					LRRC25_ENST00000595840.1_Missense_Mutation_p.L5R	p.L5R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	667	-			5					Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.14T>G	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934349	0.52866	.	.	ENSG00000175489	ENST00000339007	T	0.52754	0.65	4.0	2.96	0.34315	.	0.000000	0.30859	N	0.008739	T	0.53916	0.1826	L	0.52573	1.65	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.43310	-0.9399	10	0.87932	D	0	-2.8434	6.8455	0.23987	0.8851:0.0:0.1149:0.0	.	5	Q8N386	LRC25_HUMAN	R	5	ENSP00000340983:L5R	ENSP00000340983:L5R	L	-	2	0	LRRC25	18368760	0.002000	0.14202	0.007000	0.13788	0.119000	0.20118	0.822000	0.27352	0.643000	0.30638	0.459000	0.35465	CTG		0.617	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		3	19	0	0	0	1	0	3	19					C	18507760	A	C	18507760	3	2	27	1	0	0	0	0	1	0	0	0	8980	188	7	5	911	5	LRRC25	19	18507760	Missense_Mutation	SNP	A	TCGA-QR-A700-01A-11D-A35D-08	2924999	18507760	40621223	43	529										
AGPAT3	56894	broad.mit.edu	37	chr21	45401061	45401061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ctgactttcttggggtttgtGggagcaggtaatggacactg	15	6	1	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr21:45401061G>A	ENST00000398063.2	+	8	1527	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000327505.2_Silent_p.V345V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	345					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGGGTTTGTGGGAGCAGGTA	0.562																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1033-1035)gtG>gtA		1-acylglycerol-3-phosphate O-acyltransferase 3							127	108	114					21																	45401061		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45401061G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1035G>A	21.37:g.45401061G>A						AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000327505.2_Silent_p.V345V	p.V345V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	8	1527	+			345					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.1035G>A	CCDS13703.1																																																																																				0.562	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		26	36	0	0	0	1	0	26	36					A	45401061	G	A	45401061	2	1	27	1	0	0	0	0	0	0	0	1	388	1335	47	3		3	AGPAT3	21	45401061	Silent	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		45401061	2728834	44	530										
SBF1	6305	broad.mit.edu	37	chr22	50903079	50903079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	gcacggtgccctcatccagcCgggggaagggtcggggcacc	17	14	1	0			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr22:50903079C>A	ENST00000390679.3	-	14	1704	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	SBF1_ENST00000348911.6_Missense_Mutation_p.R508L|SBF1_ENST00000380817.3_Missense_Mutation_p.R507L			O95248	MTMR5_HUMAN	SET binding factor 1	507					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCATCCAGCCGGGGGAAGGG	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1519-1521)cGg>cTg		SET binding factor 1							55	61	59					22																	50903079		1987	4155	6142	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903079C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1520G>T	22.37:g.50903079C>A	ENSP00000375097:p.Arg507Leu					SBF1_ENST00000348911.6_Missense_Mutation_p.R508L|SBF1_ENST00000390679.3_Missense_Mutation_p.R507L	p.R507L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	14	1703	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	507					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1520G>T		.	.	.	.	.	.	.	.	.	.	C	12.00	1.805398	0.31961	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86097	-2.07;-2.07;-2.07	4.32	3.3	0.37823	.	0.363029	0.25762	N	0.028476	T	0.68933	0.3055	N	0.12182	0.205	0.26811	N	0.968993	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.14578	0.003;0.011;0.003	T	0.56475	-0.7973	10	0.30078	T	0.28	.	7.17	0.25712	0.1682:0.7429:0.0:0.089	.	507;508;507	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	507;508;518;517;507	ENSP00000370196:R507L;ENSP00000252027:R508L;ENSP00000375097:R507L	ENSP00000336522:R517L	R	-	2	0	SBF1	49249945	0.001000	0.12720	1.000000	0.80357	0.786000	0.44442	0.653000	0.24902	1.034000	0.39945	0.313000	0.20887	CGG		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				6	79	1	0	0.0215528	1	0.0215528	6	79					A	50903079	C	A	50903079	3	1	27	1	0	0	0	0	1	0	0	0	13858	652	23	5	4273	5	SBF1	22	50903079	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08		50903079	401487	45	531										
MXRA5	25878	broad.mit.edu	37	chrX	3239395	3239395	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ccacctccacttttatgcttGagagagttgtggaagaacca	9	10	0	3			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:3239395G>T	ENST00000217939.6	-	5	4485	c.4331C>A	c.(4330-4332)tCa>tAa	p.S1444*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1444						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTATGCTTGAGAGAGTTGT	0.448																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(4330-4332)tCa>tAa		matrix-remodelling associated 5							65	58	60					X																	3239395		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3239395G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4331C>A	X.37:g.3239395G>T	ENSP00000217939:p.Ser1444*						p.S1444*	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	4485	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1444					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.4331C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	40	8.210194	0.98706	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.0	-2.24	0.06909	.	3.368940	0.01447	U	0.015342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	0.842	0.01152	0.2546:0.3364:0.2372:0.1718	.	.	.	.	X	1444	.	ENSP00000217939:S1444X	S	-	2	0	MXRA5	3249395	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.229000	0.17833	-0.493000	0.06678	0.423000	0.28283	TCA		0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	22	1	0	1.23904e-05	1	1.47732e-05	4	22					T	3239395	G	T	3239395	4	4	27	1	0	0	0	0	0	1	0	0	10003	1294	45	5	4167	5	MXRA5	23	3239395	Nonsense_Mutation	SNP	G	TCGA-QR-A700-01A-11D-A35D-08		3239395	152031165	46	532										
AKAP4	8852	broad.mit.edu	37	chrX	49963360	49963360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0212765957446809	1	1	0.426754385964912	0	0.502063983488132	1	1	0	ggttgtagagatctaccttgCacacacccctgtggctgcgt	11	12	1	1			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:49963360C>T	ENST00000376056.2	-	2	194	c.44G>A	c.(43-45)tGc>tAc	p.C15Y	AKAP4_ENST00000358526.2_Missense_Mutation_p.C24Y|AKAP4_ENST00000376064.3_Missense_Mutation_p.C15Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.C15Y					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATCTACCTTGCACACACCCCT	0.428																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(43-45)tGc>tAc		A kinase (PRKA) anchor protein 4							114	86	96					X																	49963360		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49963360C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.44G>A	X.37:g.49963360C>T	ENSP00000365224:p.Cys15Tyr					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.C15Y|AKAP4_ENST00000376058.2_Missense_Mutation_p.C15Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.C24Y	p.C15Y			Q5JQC9	AKAP4_HUMAN			2	194	-	Ovarian(276;0.236)		24						Missense_Mutation	SNP	ENST00000376056.2	37	c.44G>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762925	0.31228	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000024	T	0.59851	0.2224	M	0.78801	2.425	0.27136	N	0.961784	D;D	0.71674	0.995;0.998	D;D	0.80764	0.986;0.994	T	0.57579	-0.7787	9	.	.	.	-8.4532	13.1603	0.59540	0.0:1.0:0.0:0.0	.	24;15	Q5JQC9;A6ND82	AKAP4_HUMAN;.	Y	15;15;24;15;15;15	ENSP00000365224:C15Y;ENSP00000365226:C15Y;ENSP00000351327:C24Y;ENSP00000365232:C15Y;ENSP00000402403:C15Y;ENSP00000412279:C15Y	.	C	-	2	0	AKAP4	49850100	1.000000	0.71417	0.998000	0.56505	0.278000	0.26855	3.889000	0.56212	2.168000	0.68352	0.600000	0.82982	TGC		0.428	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		6	8	0	0	0	1	0	6	8					T	49963360	C	T	49963360	3	4	27	1	0	0	0	0	1	0	0	0	453	710	25	3	2513	3	AKAP4	23	49963360	Missense_Mutation	SNP	C	TCGA-QR-A700-01A-11D-A35D-08	46723965	49963360	105307200	47	533										
ARHGEF10L	55160	broad.mit.edu	37	chr1	17930054	17930054	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	ggatgtgatttatgacgacgTcccctgcgagagcccagatg	13	10	0	4			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr1:17930054T>G	ENST00000361221.3	+	6	560	c.401T>G	c.(400-402)gTc>gGc	p.V134G	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375420.3_5'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	134						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TATGACGACGTCCCCTGCGAG	0.617																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(400-402)gTc>gGc		Rho guanine nucleotide exchange factor (GEF) 10-like							116	94	101					1																	17930054		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17930054T>G	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.401T>G	1.37:g.17930054T>G	ENSP00000355060:p.Val134Gly					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V134G|ARHGEF10L_ENST00000375420.3_5'UTR	p.V134G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	6	560	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	134					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.401T>G	CCDS182.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879999	0.72294	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.78364	-0.65;-1.17;-0.82;-1.17	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	D	0.85609	0.5736	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	1.0;0.921;0.999;0.999	D	0.86792	0.1986	10	0.72032	D	0.01	-38.9925	11.6684	0.51387	0.0:0.0:0.0:1.0	.	134;134;134;134	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	G	134	ENSP00000355060:V134G;ENSP00000399401:V134G;ENSP00000394621:V134G;ENSP00000364564:V134G	ENSP00000355060:V134G	V	+	2	0	ARHGEF10L	17802641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.048000	0.64238	1.782000	0.52362	0.533000	0.62120	GTC		0.617	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		9	13	0	0	0	1	0	9	13					G	17930054	T	G	17930054	3	3	28	1	0	0	0	0	1	0	0	0	895	1667	58	5	419	5	ARHGEF10L	1	17930054	Missense_Mutation	SNP	T	TCGA-QR-A702-01A-11D-A35D-08		17930054	231320567	1	534										
PQLC2	54896	broad.mit.edu	37	chr1	19644309	19644309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	ggcctgggcttgatctccatTctctgctttgctgcatctac	9	13	3	1			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr1:19644309T>G	ENST00000375153.3	+	2	778	c.138T>G	c.(136-138)atT>atG	p.I46M	RN7SL85P_ENST00000583604.1_RNA|PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.I46M	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	46	PQ-loop 1.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGATCTCCATTCTCTGCTTTG	0.617																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(136-138)atT>atG		PQ loop repeat containing 2							288	279	282					1																	19644309		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19644309T>G	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.138T>G	1.37:g.19644309T>G	ENSP00000364295:p.Ile46Met					PQLC2_ENST00000375155.3_Missense_Mutation_p.I46M|PQLC2_ENST00000400548.2_Intron	p.I46M	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	778	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	46			PQ-loop 1.		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.138T>G	CCDS195.2	.	.	.	.	.	.	.	.	.	.	T	16.93	3.256795	0.59321	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	D;D	0.98381	-4.9;-4.9	5.5	-3.68	0.04463	.	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	M	0.73372	2.23	0.80722	D	1	P	0.51057	0.941	P	0.57548	0.823	D	0.95218	0.8331	10	0.42905	T	0.14	-12.9651	10.1331	0.42691	0.1468:0.6633:0.0:0.1899	.	46	Q6ZP29	PQLC2_HUMAN	M	46	ENSP00000364297:I46M;ENSP00000364295:I46M	ENSP00000364295:I46M	I	+	3	3	PQLC2	19516896	0.000000	0.05858	0.737000	0.30932	0.990000	0.78478	-0.240000	0.08952	-0.222000	0.09958	0.391000	0.25812	ATT		0.617	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		27	153	0	0	0	1	0	27	153					G	19644309	T	G	19644309	3	3	28	1	0	0	0	0	1	0	0	0	12419	1771	62	5	140	5	PQLC2	1	19644309	Missense_Mutation	SNP	T	TCGA-QR-A702-01A-11D-A35D-08	1714255	19644309	229606312	2	535										
ZNF131	7690	broad.mit.edu	37	chr5	43174694	43174694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	gcatctcagtgatgctcacaAtatttcagagcgtctagtaa	8	9	4	2			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr5:43174694A>G	ENST00000399534.1	+	7	1375	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N410S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N444S|ZNF131_ENST00000509634.1_Missense_Mutation_p.N410S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N410S			P52739	ZN131_HUMAN	zinc finger protein 131	444					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GATGCTCACAATATTTCAGAG	0.378																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1228-1230)aAt>aGt		zinc finger protein 131							119	109	112					5																	43174694		1919	4125	6044	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174694A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1331A>G	5.37:g.43174694A>G	ENSP00000382450:p.Asn444Ser					ZNF131_ENST00000505606.2_Missense_Mutation_p.N410S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.N444S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N444S|ZNF131_ENST00000306938.4_Missense_Mutation_p.N410S	p.N410S			P52739	ZN131_HUMAN			7	1685	+			444					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1229A>G		.	.	.	.	.	.	.	.	.	.	A	7.271	0.607235	0.14002	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39	5.61	5.61	0.85477	.	0.250952	0.40554	N	0.001065	T	0.09379	0.0231	N	0.12887	0.27	0.33836	D	0.630915	D;B	0.63880	0.993;0.376	D;B	0.68192	0.956;0.084	T	0.05533	-1.0879	10	0.02654	T	1	-18.9149	15.8002	0.78447	1.0:0.0:0.0:0.0	.	444;410	P52739;P52739-2	ZN131_HUMAN;.	S	444;410;444;410;410	ENSP00000426504:N444S;ENSP00000305804:N410S;ENSP00000382450:N444S;ENSP00000423945:N410S;ENSP00000421246:N410S	ENSP00000305804:N410S	N	+	2	0	ZNF131	43210451	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.478000	0.45189	2.135000	0.66039	0.377000	0.23210	AAT		0.378	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		3	54	0	0	0	1	0	3	54					G	43174694	A	G	43174694	3	3	28	1	0	0	0	0	1	0	0	0	17718	101	4	4	1255	4	ZNF131	5	43174694	Missense_Mutation	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		43174694	137740566	3	536										
EIF3B	8662	broad.mit.edu	37	chr7	2412395	2412395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	gcggatatctgtgtctttctAccacgtcaaaaacaacggga	9	10	4	0	rs150678614		TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:2412395A>G	ENST00000360876.4	+	12	1831	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	EIF3B_ENST00000397011.2_Missense_Mutation_p.Y592C	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGTCTTTCTACCACGTCAAA	0.483																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1774-1776)tAc>tGc		eukaryotic translation initiation factor 3, subunit B		A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	108	95	99		1775,1775	5.6	1	7	dbSNP_134	99	0,8600		0,0,4300	no	missense,missense	EIF3B	NM_001037283.1,NM_003751.3	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	592/815,592/815	2412395	1,13005	2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2412395A>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1775A>G	7.37:g.2412395A>G	ENSP00000354125:p.Tyr592Cys					EIF3B_ENST00000397011.2_Missense_Mutation_p.Y592C	p.Y592C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	12	1831	+		Ovarian(82;0.0253)	592						Missense_Mutation	SNP	ENST00000360876.4	37	c.1775A>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574218	0.86542	2.27E-4	0.0	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.06933	3.24;3.24	5.55	5.55	0.83447	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52117	-0.8618	10	0.87932	D	0	-35.384	15.6886	0.77430	1.0:0.0:0.0:0.0	.	592	P55884	EIF3B_HUMAN	C	592;592;592;516	ENSP00000354125:Y592C;ENSP00000380206:Y592C	ENSP00000316638:Y592C	Y	+	2	0	EIF3B	2378921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.105000	0.94246	2.110000	0.64415	0.533000	0.62120	TAC		0.483	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			4	30	0	0	0	1	0	4	30					G	2412395	A	G	2412395	3	3	28	1	0	0	0	0	1	0	0	0	5013	391	14	4	1821	4	EIF3B	7	2412395	Missense_Mutation	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		2412395	156726268	4	537										
CRHR2	1395	broad.mit.edu	37	chr7	30695314	30695314	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	ggaggggcaggagcaccaggGtggccttcactgccttcctg	16	12	1	0			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:30695314G>C	ENST00000471646.1	-	10	1352	c.935C>G	c.(934-936)aCc>aGc	p.T312S	CRHR2_ENST00000348438.4_Missense_Mutation_p.T339S|CRHR2_ENST00000506074.2_Missense_Mutation_p.T312S|CRHR2_ENST00000341843.4_Missense_Mutation_p.T298S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCACCAGGGTGGCCTTCAC	0.622																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(934-936)aCc>aGc		corticotropin releasing hormone receptor 2							137	133	134					7																	30695314		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695314G>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"GPCR / Class B : Corticotropin-releasing factor receptors"	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.935C>G	7.37:g.30695314G>C	ENSP00000418722:p.Thr312Ser					CRHR2_ENST00000341843.4_Missense_Mutation_p.T298S|CRHR2_ENST00000506074.2_Missense_Mutation_p.T312S|CRHR2_ENST00000348438.4_Missense_Mutation_p.T339S	p.T312S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			10	1352	-			312					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.935C>G	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982530	0.74474	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.88979	2.995	0.80722	D	1	D;D;D;P;D	0.59767	0.986;0.986;0.982;0.951;0.986	D;D;P;P;P	0.65323	0.934;0.91;0.854;0.769;0.889	T	0.72404	-0.4304	10	0.72032	D	0.01	.	16.4065	0.83671	0.0:0.0:1.0:0.0	.	311;312;339;298;312	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	S	312;339;298;312	ENSP00000418722:T312S;ENSP00000340943:T339S;ENSP00000344304:T298S;ENSP00000426498:T312S	ENSP00000344304:T298S	T	-	2	0	CRHR2	30661839	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.830000	0.99415	2.533000	0.85409	0.561000	0.74099	ACC		0.622	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			47	66	0	0	0	1	0	47	66					C	30695314	G	C	30695314	3	2	28	1	0	0	0	0	1	0	0	0	3872	1261	44	5	312	5	CRHR2	7	30695314	Missense_Mutation	SNP	G	TCGA-QR-A702-01A-11D-A35D-08	28282919	30695314	128443349	5	538										
MGAM	8972	broad.mit.edu	37	chr7	141764301	141764301	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	gcacaacctgtatgggtggtCccagaccagacccacatacg							TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr7:141764301delC	ENST00000549489.2	+	37	4558	c.4463delC	c.(4462-4464)tccfs	p.S1488fs	MGAM_ENST00000475668.2_Frame_Shift_Del_p.S1488fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1488	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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGGGTGGTCCCAGACCAGA	0.552																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4462-4464)tcfs		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						23	25	24					7																	141764301		1998	4170	6168	SO:0001589	frameshift_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.chr7:141764301delC	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.4463delC	7.37:g.141764301delC	ENSP00000447378:p.Ser1488fs					MGAM_ENST00000549489.2_Frame_Shift_Del_p.S1488fs	p.S1488fs			O43451	MGA_HUMAN			37	4517	+	Melanoma(164;0.0272)		1488			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000549489.2	37	c.4463delC	CCDS47727.1																																																																																				0.552	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			2	4						2	4	---	---	---	---	-	141764301	C	-	141764301	7	5	28	1	0	1	0	1	0	0	0	0	9541	855	30	0	4605	0	MGAM	7	141764301	Frame_Shift_Del	DEL	C	TCGA-QR-A702-01A-11D-A35D-08	111068987	141764301	17374362	6	539										
WDR67	93594	broad.mit.edu	37	chr8	124146352	124146352	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	acagtttgttgtttggccatAggtatatatgagagatcgag	12	4	0	2			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr8:124146352A>G	ENST00000287380.1	+	17	2496		c.e17-1		TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000327098.5_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GTTTGGCCATAGGTATATATG	0.328																																						ENST00000287380.1																			0											c.e17-1		TBC1 domain family, member 31							85	90	88					8																	124146352		2203	4300	6503	SO:0001630	splice_region_variant	93594							g.chr8:124146352A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2407-1A>G	8.37:g.124146352A>G						TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site		NM_145647.3	NP_663622.2					17	2496	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	SNP	ENST00000287380.1	37		CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.725255	0.48833	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000522420;ENST00000521676;ENST00000518805	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8355	0.63406	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR67	124215533	1.000000	0.71417	0.845000	0.33349	0.025000	0.11179	7.044000	0.76578	2.089000	0.63090	0.533000	0.62120	.		0.328	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	3	49	0	0	0	1	0	3	49					G	124146352	A	G	124146352	5	3	28	1	0	0	0	0	0	0	1	0	17315	434	15	4	2471	4	WDR67	8	124146352	Splice_Site	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		124146352	22217670	7	540										
PIK3C2A	5286	broad.mit.edu	37	chr11	17170220	17170220	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	ttaaataaacttacttctgcAgcacttcctcttgaccacaa	3	12	2	1			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr11:17170220A>C	ENST00000265970.7	-	4	1441	c.1442T>G	c.(1441-1443)cTg>cGg	p.L481R	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L101R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	481	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTACTTCTGCAGCACTTCCTC	0.323																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1441-1443)cTg>cGg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						101	91	94					11																	17170220		2200	4292	6492	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17170220A>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1442T>G	11.37:g.17170220A>C	ENSP00000265970:p.Leu481Arg					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L101R	p.L481R	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			4	1441	-			481					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1442T>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412266	0.83340	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.63096	-0.02;-0.02	5.11	5.11	0.69529	Phosphoinositide 3-kinase, ras-binding (2);	0.000000	0.64402	D	0.000001	T	0.80523	0.4639	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83986	0.0335	10	0.87932	D	0	-5.4831	15.1796	0.72945	1.0:0.0:0.0:0.0	.	481;481	F5H5W9;O00443	.;P3C2A_HUMAN	R	481;101;481	ENSP00000265970:L481R;ENSP00000438687:L101R	ENSP00000265970:L481R	L	-	2	0	PIK3C2A	17126796	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.810000	0.91950	2.056000	0.61249	0.482000	0.46254	CTG		0.323	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		3	28	0	0	0	1	0	3	28					C	17170220	A	C	17170220	3	2	28	1	0	0	0	0	1	0	0	0	11909	188	7	5	3734	5	PIK3C2A	11	17170220	Missense_Mutation	SNP	A	TCGA-QR-A702-01A-11D-A35D-08		17170220	117836296	8	541										
SPTB	6710	broad.mit.edu	37	chr14	65220494	65220494	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	tgctgcaggttctgaggccaCgttccctcttcttccccctg	9	16	3	1			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr14:65220494C>T	ENST00000556626.1	-	33	6505	c.6363G>A	c.(6361-6363)acG>acA	p.T2121T	SPTB_ENST00000389722.3_Silent_p.T2121T|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTGAGGCCACGTTCCCTCTT	0.592																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6361-6363)acG>acA		spectrin, beta, erythrocytic							50	51	51					14																	65220494		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65220494C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6363G>A	14.37:g.65220494C>T						SPTB_ENST00000556626.1_Silent_p.T2121T|SPTB_ENST00000342835.4_5'UTR	p.T2121T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	32	6416	-		all_lung(585;4.15e-09)	0					Q15510|Q15519	Silent	SNP	ENST00000556626.1	37	c.6363G>A	CCDS32099.1																																																																																				0.592	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			4	55	0	0	0	1	0	4	55					T	65220494	C	T	65220494	2	4	28	1	0	0	0	0	0	0	0	1	15117	523	19	1		1	SPTB	14	65220494	Silent	SNP	C	TCGA-QR-A702-01A-11D-A35D-08		65220494	42129046	9	542										
BCAR1	9564	broad.mit.edu	37	chr16	75263909	75263909	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	cacctcctgttccagtcgttCaaactgcttcagctggggca	9	14	2	0			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr16:75263909C>T	ENST00000162330.5	-	7	2239	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	BCAR1_ENST00000546196.1_Missense_Mutation_p.E676K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E705K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E723K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E557K|BCAR1_ENST00000566982.1_5'UTR|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000418647.3_Missense_Mutation_p.E751K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E723K|BCAR1_ENST00000393420.6_Missense_Mutation_p.E723K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E703K	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	705					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCAGTCGTTCAAACTGCTTC	0.667																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2026-2028)Gaa>Aaa		breast cancer anti-estrogen resistance 1							29	34	33					16																	75263909		2157	4228	6385	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263909C>T	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2113G>A	16.37:g.75263909C>T	ENSP00000162330:p.Glu705Lys					BCAR1_ENST00000393420.6_Missense_Mutation_p.E723K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E723K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E703K|BCAR1_ENST00000538440.2_Missense_Mutation_p.E705K|BCAR1_ENST00000162330.5_Missense_Mutation_p.E705K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E557K|BCAR1_ENST00000420641.3_Missense_Mutation_p.E723K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E751K|BCAR1_ENST00000566982.1_5'UTR	p.E676K			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3678	-			705					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2026G>A	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714474	0.68730	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	4.72	4.72	0.59763	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.45581	1.43	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.992;0.999;0.992;0.99;0.99;0.992;0.999;0.992;0.999	D;D;D;D;D;D;D;D;D	0.85130	0.987;0.994;0.987;0.979;0.979;0.987;0.994;0.987;0.997	T	0.21314	-1.0249	10	0.38643	T	0.18	-40.4241	16.6397	0.85068	0.0:1.0:0.0:0.0	.	723;557;751;703;723;723;705;705;495	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	K	705;723;723;705;751;557;723;703;676	ENSP00000162330:E705K;ENSP00000377074:E723K;ENSP00000392708:E723K;ENSP00000443841:E705K;ENSP00000391669:E751K;ENSP00000440370:E557K;ENSP00000377072:E723K;ENSP00000440415:E703K;ENSP00000442161:E676K	ENSP00000162330:E705K	E	-	1	0	BCAR1	73821410	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.983000	0.49345	2.328000	0.79073	0.557000	0.71058	GAA		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		20	19	0	0	0	1	0	20	19					T	75263909	C	T	75263909	3	4	28	1	0	0	0	0	1	0	0	0	1348	835	29	3	503	3	BCAR1	16	75263909	Missense_Mutation	SNP	C	TCGA-QR-A702-01A-11D-A35D-08		75263909	15090844	10	543										
RTN4RL1	146760	broad.mit.edu	37	chr17	1839884	1839884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	gctgcaccccgctgggggcaCggatgggggtcctgcgggca	19	13	0	0	rs563904841	byFrequency	TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr17:1839884C>T	ENST00000331238.6	-	2	1711	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCTGGGGGCACGGATGGGGGT	0.672													C|||	2	0.000399361	0	0.0029	5008	,	,		13890	0		0	False		,,,				2504	0				GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(1231-1233)cGt>cAt		reticulon 4 receptor-like 1							13	14	14					17																	1839884		1916	4119	6035	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1839884C>T	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.1232G>A	17.37:g.1839884C>T	ENSP00000330631:p.Arg411His						p.R411H	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	1250	-			411						Missense_Mutation	SNP	ENST00000331238.6	37	c.1232G>A	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671333	0.67814	.	.	ENSG00000185924	ENST00000331238	T	0.68479	-0.33	5.48	4.42	0.53409	.	0.201610	0.24912	N	0.034615	T	0.65165	0.2665	L	0.32530	0.975	0.45718	D	0.998623	D	0.67145	0.996	P	0.50490	0.642	T	0.70051	-0.4978	10	0.66056	D	0.02	.	16.1114	0.81266	0.1904:0.8096:0.0:0.0	.	411	Q86UN2	R4RL1_HUMAN	H	411	ENSP00000330631:R411H	ENSP00000330631:R411H	R	-	2	0	RTN4RL1	1786634	0.962000	0.33011	1.000000	0.80357	0.995000	0.86356	2.241000	0.43097	2.597000	0.87782	0.549000	0.68633	CGT		0.672	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		3	1	0	0	0	1	0	3	1					T	1839884	C	T	1839884	3	4	28	1	0	0	0	0	1	0	0	0	13731	536	19	1	97	1	RTN4RL1	17	1839884	Missense_Mutation	SNP	C	TCGA-QR-A702-01A-11D-A35D-08		1839884	79355326	11	544										
NF1	4763	broad.mit.edu	37	chr17	29552214	29552215	+	Frame_Shift_Ins	INS	-	-	G													0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	tgtccatggatcatgaagaaINSttactacgtactcctggagc							TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chr17:29552214_29552215insG	ENST00000358273.4	+	17	2330_2331	c.1947_1948insG	c.(1948-1950)ttafs	p.L650fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.L650fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	650					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATGAAGAATTACTACGTAC	0.421			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1945-1950)gatactfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29552214_29552215insG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	Exception_encountered	17.37:g.29552214_29552215insG	ENSP00000351015:p.Leu650fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.DT649fs	p.DT649fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	17	2330_2331	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	649					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.1947_1948insG	CCDS42292.1																																																																																				0.421	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		45	12						45	12	---	---	---	---	G	29552215	-	G	29552214	7	5	28	1	0	1	1	0	0	0	0	0	10356	98	4	0	2074	0	NF1	17	29552214	Frame_Shift_Ins	INS	-	TCGA-QR-A702-01A-11D-A35D-08	27712330	29552214	51642996	12	545										
MXRA5	25878	broad.mit.edu	37	chrX	3238548	3238548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	aagaaagggagtcttccattGgaataatgaggaattcttgg	12	4	2	2			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chrX:3238548G>A	ENST00000217939.6	-	5	5332	c.5178C>T	c.(5176-5178)tcC>tcT	p.S1726S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1726						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCTTCCATTGGAATAATGAG	0.463																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5176-5178)tcC>tcT		matrix-remodelling associated 5							69	65	67					X																	3238548		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238548G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5178C>T	X.37:g.3238548G>A							p.S1726S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5332	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1726					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5178C>T	CCDS14124.1																																																																																				0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		13	26	0	0	0	1	0	13	26					A	3238548	G	A	3238548	2	1	28	1	0	0	0	0	0	0	0	1	10003	1335	47	3		3	MXRA5	23	3238548	Silent	SNP	G	TCGA-QR-A702-01A-11D-A35D-08		3238548	152032012	13	546										
FAM123B	139285	broad.mit.edu	37	chrX	63412960	63412960	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.34736842105263	0	1.68421052631579	1	1	0	ccccctccaaagaaactaggCagagtacagatacccttctt	6	14	1	3			TCGA-QR-A702-01A-11D-A35D-08	TCGA-QR-A702-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a8557fb-9487-4f47-a15b-2a2da8282092	8e591104-bd61-4595-bc0c-54a0f0368e34	g.chrX:63412960C>A	ENST00000330258.3	-	2	479	c.207G>T	c.(205-207)ctG>ctT	p.L69L	AMER1_ENST00000374869.3_Silent_p.L69L|AMER1_ENST00000403336.1_Silent_p.L69L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	69					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AGAAACTAGGCAGAGTACAGA	0.537																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(205-207)ctG>ctT		APC membrane recruitment protein 1							148	119	129					X																	63412960		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63412960C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.207G>T	X.37:g.63412960C>A						AMER1_ENST00000403336.1_Silent_p.L69L|AMER1_ENST00000374869.3_Silent_p.L69L	p.L69L	NM_152424.3	NP_689637.3					2	479	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.207G>T	CCDS14377.2																																																																																				0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		36	32	1	0	5.43694e-19	1	5.43694e-19	36	32					A	63412960	C	A	63412960	2	1	28	1	0	0	0	0	0	0	0	1	5423	697	25	5		5	FAM123B	23	63412960	Silent	SNP	C	TCGA-QR-A702-01A-11D-A35D-08	60174412	63412960	91857600	14	547										
PTCH2	8643	broad.mit.edu	37	chr1	45288335	45288335	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgggctttccttgtacatctGtatcacctgtggggagacac	11	10	2	1			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:45288335G>A	ENST00000372192.3	-	22	3494	c.3364C>T	c.(3364-3366)Cag>Tag	p.Q1122*	PTCH2_ENST00000447098.2_Nonsense_Mutation_p.Q1122*|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1122					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTGTACATCTGTATCACCTGT	0.622									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3364-3366)Cag>Tag		patched 2							81	90	87					1																	45288335		2203	4300	6503	SO:0001587	stop_gained	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288335G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3364C>T	1.37:g.45288335G>A	ENSP00000361266:p.Gln1122*					PTCH2_ENST00000372192.3_Nonsense_Mutation_p.Q1122*	p.Q1122*	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			22	3375	-	Acute lymphoblastic leukemia(166;0.155)		1122					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Nonsense_Mutation	SNP	ENST00000372192.3	37	c.3364C>T	CCDS516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	39|39	7.430215|7.430215	0.98279|0.98279	.|.	.|.	ENSG00000117425|ENSG00000117425	ENST00000447098;ENST00000372192|ENST00000438067	.|.	.|.	.|.	4.33|4.33	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.45126|.	D|.	0.000385|.	.|T	.|0.52108	.|0.1714	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61811	.|-0.6986	.|3	0.38643|.	T|.	0.18|.	-8.5294|-8.5294	9.5986|9.5986	0.39589|0.39589	0.0:0.0:0.7912:0.2088|0.0:0.0:0.7912:0.2088	.|.	.|.	.|.	.|.	X|I	1122|42	.|.	ENSP00000361266:Q1122X|.	Q|T	-|-	1|2	0|0	PTCH2|PTCH2	45060922|45060922	0.999000|0.999000	0.42202|0.42202	0.990000|0.990000	0.47175|0.47175	0.914000|0.914000	0.54420|0.54420	3.685000|3.685000	0.54678|0.54678	2.237000|2.237000	0.73441|0.73441	0.645000|0.645000	0.84053|0.84053	CAG|ACA		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		4	82	0	0	0	1	0	4	82					A	45288335	G	A	45288335	4	1	29	1	0	0	0	0	0	1	0	0	12731	1386	48	3	271	3	PTCH2	1	45288335	Nonsense_Mutation	SNP	G	TCGA-QR-A703-01A-11D-A35D-08		45288335	203962286	1	548										
NASP	4678	broad.mit.edu	37	chr1	46073584	46073584	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcggttcttgaacaactggTaggtcaagaagtaccacctg	12	9	2	2			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr1:46073584T>G	ENST00000350030.3	+	6	1088	c.1001T>G	c.(1000-1002)gTa>gGa	p.V334G	NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V270G|NASP_ENST00000402363.3_Missense_Mutation_p.V336G|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	334	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAACAACTGGTAGGTCAAGAA	0.542																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1000-1002)gTa>gGa		nuclear autoantigenic sperm protein (histone-binding)							68	69	69					1																	46073584		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073584T>G	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"Tetratricopeptide (TTC) repeat domain containing"	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1001T>G	1.37:g.46073584T>G	ENSP00000255120:p.Val334Gly					NASP_ENST00000402363.3_Missense_Mutation_p.V336G|NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V270G	p.V334G	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1088	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		334			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1001T>G	CCDS524.1	.	.	.	.	.	.	.	.	.	.	T	1.507	-0.550605	0.03996	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D	0.94793	-3.52;-3.52;-3.52	5.13	-0.43	0.12299	.	0.799548	0.11019	N	0.608546	D	0.87346	0.6154	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.003	T	0.73972	-0.3814	9	.	.	.	0.1712	7.1263	0.25473	0.0:0.0821:0.436:0.4819	.	270;334;234;334;336	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	G	270;336;234;334;297	ENSP00000438871:V270G;ENSP00000384529:V336G;ENSP00000255120:V334G	.	V	+	2	0	NASP	45846171	0.930000	0.31532	0.058000	0.19502	0.116000	0.19942	0.134000	0.15932	0.100000	0.17581	0.455000	0.32223	GTA		0.542	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		3	41	0	0	0	1	0	3	41					G	46073584	T	G	46073584	3	3	29	1	0	0	0	0	1	0	0	0	10172	1638	57	5	1100	5	NASP	1	46073584	Missense_Mutation	SNP	T	TCGA-QR-A703-01A-11D-A35D-08	785249	46073584	203177037	2	549										
ZC3H6	376940	broad.mit.edu	37	chr2	113089358	113089358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aacaatttggagactcacacGgttcaggagctaaattagga	10	7	2	1	rs199593500		TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr2:113089358G>A	ENST00000409871.1	+	12	3264	c.2863G>A	c.(2863-2865)Ggt>Agt	p.G955S	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	955							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGACTCACACGGTTCAGGAGC	0.393													G|||	1	0.000199681	0	0	5008	,	,		20616	0		0.001	False		,,,				2504	0					ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2863-2865)Ggt>Agt		zinc finger CCCH-type containing 6							82	76	78					2																	113089358		1850	4095	5945	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089358G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2863G>A	2.37:g.113089358G>A	ENSP00000386764:p.Gly955Ser					ZC3H6_ENST00000343936.4_Missense_Mutation_p.G955S	p.G955S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			12	3264	+			955					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.2863G>A	CCDS46393.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.059	-1.229732	0.01518	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.12255	2.7;2.7	5.27	1.58	0.23477	.	0.306550	0.41194	N	0.000931	T	0.03178	0.0093	N	0.00633	-1.31	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.45279	-0.9272	10	0.11485	T	0.65	-5.1045	9.0975	0.36647	0.6408:0.0:0.3592:0.0	.	955	P61129	ZC3H6_HUMAN	S	955	ENSP00000386764:G955S;ENSP00000340298:G955S	ENSP00000340298:G955S	G	+	1	0	ZC3H6	112805829	0.996000	0.38824	0.932000	0.37286	0.921000	0.55340	1.347000	0.33975	0.108000	0.17862	-0.383000	0.06682	GGT		0.393	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		3	25	0	0	0	1	0	3	25					A	113089358	G	A	113089358	3	1	29	1	0	0	0	0	1	0	0	0	17568	1116	39	2	2909	2	ZC3H6	2	113089358	Missense_Mutation	SNP	G	TCGA-QR-A703-01A-11D-A35D-08		113089358	130110015	3	550										
AGBL2	79841	broad.mit.edu	37	chr11	47712201	47712201	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tttcatttccttctctcctcCagccaatattgcgggtgttg	7	12	2	0			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:47712201C>T	ENST00000525123.1	-	10	1343	c.1058G>A	c.(1057-1059)tGg>tAg	p.W353*	AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353*|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353*|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Nonsense_Mutation_p.W315*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	353						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTCTCTCCTCCAGCCAATATT	0.453																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(1057-1059)tGg>tAg		ATP/GTP binding protein-like 2							136	127	130					11																	47712201		2201	4298	6499	SO:0001587	stop_gained	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712201C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1058G>A	11.37:g.47712201C>T	ENSP00000435582:p.Trp353*					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.W353*|AGBL2_ENST00000528244.1_Nonsense_Mutation_p.W315*|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.W353*	p.W353*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			10	1343	-			353					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Nonsense_Mutation	SNP	ENST00000525123.1	37	c.1058G>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	38	6.835127	0.97873	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2279	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	353;353;353;315;297	.	ENSP00000298861:W353X	W	-	2	0	AGBL2	47668777	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.280000	0.78610	2.785000	0.95823	0.655000	0.94253	TGG		0.453	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		22	20	0	0	0	1	0	22	20					T	47712201	C	T	47712201	4	4	29	1	0	0	0	0	0	1	0	0	376	595	21	3	1690	3	AGBL2	11	47712201	Nonsense_Mutation	SNP	C	TCGA-QR-A703-01A-11D-A35D-08		47712201	87294315	4	551										
SPTBN2	6712	broad.mit.edu	37	chr11	66475224	66475224	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgctgtaggccacgatgtcCgtctcaatggcttcgtgctt	11	13	1	0	rs145249947	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr11:66475224C>T	ENST00000533211.1	-	13	1747	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	472					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCACGATGTCCGTCTCAATGG	0.672													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		17694	0		0	False		,,,				2504	0					ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1414-1416)acG>acA		spectrin, beta, non-erythrocytic 2		C		44,4356	46.7+/-81.2	0,44,2156	60	55	56		1416	-8.9	0.9	11	dbSNP_134	56	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SPTBN2	NM_006946.2		0,45,6450	TT,TC,CC		0.0116,1.0,0.3464		472/2391	66475224	45,12945	2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66475224C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1416G>A	11.37:g.66475224C>T						SPTBN2_ENST00000529997.1_Silent_p.T472T|SPTBN2_ENST00000309996.2_Silent_p.T472T	p.T472T			O15020	SPTN2_HUMAN			13	1747	-			472					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1416G>A	CCDS8150.1																																																																																				0.672	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	67	0	0	0	1	0	5	67					T	66475224	C	T	66475224	2	4	29	1	0	0	0	0	0	0	0	1	15119	639	23	2		2	SPTBN2	11	66475224	Silent	SNP	C	TCGA-QR-A703-01A-11D-A35D-08	18763023	66475224	68531292	5	552										
PABPN1	8106	broad.mit.edu	37	chr14	23791016	23791016	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	gggtgacccgggggacggcgCcattgaggacccggtgaggg							TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr14:23791016delC	ENST00000216727.4	+	1	519	c.338delC	c.(337-339)gccfs	p.A113fs	PABPN1_ENST00000397276.2_Frame_Shift_Del_p.A113fs|PABPN1_ENST00000557702.1_5'Flank|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.W34fs|PABPN1_ENST00000556821.1_5'UTR|BCL2L2-PABPN1_ENST00000557008.1_Intron|BCL2L2-PABPN1_ENST00000553781.1_Intron	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	113	Interacts with SKIP.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGACGGCGCCATTGAGGAC	0.771																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(337-339)gcfs		poly(A) binding protein, nuclear 1							5	6	6					14																	23791016		1951	3823	5774	SO:0001589	frameshift_variant	8106							g.chr14:23791016delC	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.338delC	14.37:g.23791016delC	ENSP00000216727:p.Ala113fs					BCL2L2-PABPN1_ENST00000557008.1_Intron|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.W34fs|PABPN1_ENST00000216727.4_Frame_Shift_Del_p.A113fs|BCL2L2-PABPN1_ENST00000553781.1_Intron|PABPN1_ENST00000556821.1_5'UTR	p.A113fs						GBM - Glioblastoma multiforme(265;0.00643)	1	351	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Frame_Shift_Del	DEL	ENST00000216727.4	37	c.338delC	CCDS9592.1																																																																																				0.771	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		2	4						2	4	---	---	---	---	-	23791016	C	-	23791016	7	5	29	1	0	1	0	1	0	0	0	0	11368	739	26	0	340	0	PABPN1	14	23791016	Frame_Shift_Del	DEL	C	TCGA-QR-A703-01A-11D-A35D-08		23791016	83558524	6	553										
HOMER3	9454	broad.mit.edu	37	chr19	19042905	19042906	+	Frame_Shift_Del	DEL	GA	GA	-													0	0	1	0	NA	0	1	1	0	ttgttgctgtcctgcagtgcGaaaaactcggcctcccactg					rs80104014	byFrequency	TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr19:19042905_19042906delGA	ENST00000539827.1	-	6	1221_1222	c.569_570delTC	c.(568-570)ttcfs	p.F190fs	HOMER3_ENST00000594794.1_Intron|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	190					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			CCTGCAGTGCGAAAAACTCGGC	0.688																																						ENST00000539827.1																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(568-570)tfs		homer homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19042905_19042906delGA	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.569_570delTC	19.37:g.19042905_19042906delGA	ENSP00000439937:p.Phe190fs					HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs	p.F190fs			Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		6	1221_1222	-			190					E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Frame_Shift_Del	DEL	ENST00000539827.1	37	c.569_570delTC	CCDS12391.1																																																																																				0.688	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			2	4						2	4	---	---	---	---	-	19042906	GA	-	19042905	7	5	29	1	0	1	0	1	0	0	0	0	7280	1049	37	0	531	0	HOMER3	19	19042905	Frame_Shift_Del	DEL	GA	TCGA-QR-A703-01A-11D-A35D-08		19042905	40086078	7	554										
SSTR3	6753	broad.mit.edu	37	chr22	37602845	37602845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcctggctgcgcacacggCgggagggccgcagcaggacc	17	15	0	0			TCGA-QR-A703-01A-11D-A35D-08	TCGA-QR-A703-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d9bdbe4-49c3-4010-8e42-8673307e02c7	eed74c07-ea35-4095-becc-cd65cd2f1f25	g.chr22:37602845C>T	ENST00000328544.3	-	2	1531	c.998G>A	c.(997-999)cGc>cAc	p.R333H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	333					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R333H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCGCACACGGCGGGAGGGCCG	0.667																																						ENST00000328544.3																			1	Substitution - Missense(1)	p.R333H(1)	NS(1)	NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(997-999)cGc>cAc		somatostatin receptor 3							32	38	36					22																	37602845		2203	4297	6500	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602845C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.998G>A	22.37:g.37602845C>T	ENSP00000330138:p.Arg333His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R333H	p.R333H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1531	-			333					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.998G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109578	0.56398	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38401	1.14;1.14	5.29	5.29	0.74685	.	0.476428	0.22757	N	0.056007	T	0.53190	0.1781	M	0.66939	2.045	0.22620	N	0.998924	D	0.89917	1.0	D	0.67382	0.951	T	0.48234	-0.9053	10	0.15066	T	0.55	.	13.8588	0.63548	0.1527:0.8473:0.0:0.0	.	333	P32745	SSR3_HUMAN	H	333	ENSP00000330138:R333H;ENSP00000384904:R333H	ENSP00000330138:R333H	R	-	2	0	SSTR3	35932791	1.000000	0.71417	0.932000	0.37286	0.743000	0.42351	5.910000	0.69931	2.460000	0.83146	0.563000	0.77884	CGC		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			5	43	0	0	0	1	0	5	43					T	37602845	C	T	37602845	3	4	29	1	0	0	0	0	1	0	0	0	15198	768	27	1	262	1	SSTR3	22	37602845	Missense_Mutation	SNP	C	TCGA-QR-A703-01A-11D-A35D-08		37602845	13701721	8	555										
PLCL1	5334	broad.mit.edu	37	chr2	198948751	198948751	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagagatcagactggggaaAaacacggaaacatttagaaa	10	5	1	3			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr2:198948751A>G	ENST00000428675.1	+	2	908	c.510A>G	c.(508-510)aaA>aaG	p.K170K	PLCL1_ENST00000437704.2_Silent_p.K72K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	170	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GACTGGGGAAAAACACGGAAA	0.463																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(508-510)aaA>aaG		phospholipase C-like 1	Quinacrine(DB01103)						109	116	114					2																	198948751		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948751A>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.510A>G	2.37:g.198948751A>G						PLCL1_ENST00000437704.2_Silent_p.K72K	p.K170K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	908	+			170			Interaction with PPP1C.|PH.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.510A>G	CCDS2326.2																																																																																				0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		5	65	0	0	0	1	0	5	65					G	198948751	A	G	198948751	2	3	30	1	0	0	0	0	0	0	0	1	12039	11	1	4		4	PLCL1	2	198948751	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		198948751	44250622	1	556										
APEH	327	broad.mit.edu	37	chr3	49717042	49717042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaggacctgtttgctgtggAcacccaagtgggcactgtga	13	10	1	1			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr3:49717042A>G	ENST00000296456.5	+	13	1575	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	APEH_ENST00000438011.1_Missense_Mutation_p.D392G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	392					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTGCTGTGGACACCCAAGTG	0.612																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1174-1176)gAc>gGc		acylaminoacyl-peptide hydrolase							270	214	233					3																	49717042		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49717042A>G	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1175A>G	3.37:g.49717042A>G	ENSP00000296456:p.Asp392Gly					APEH_ENST00000438011.1_Missense_Mutation_p.D392G	p.D392G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	13	1575	+			392					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1175A>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894130	0.72639	.	.	ENSG00000164062	ENST00000296456;ENST00000438011	T;T	0.56611	0.45;0.45	4.59	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.092377	0.64402	D	0.000001	T	0.55162	0.1903	M	0.73598	2.24	0.54753	D	0.999986	B;B	0.31009	0.303;0.303	B;B	0.35899	0.213;0.213	T	0.59606	-0.7423	10	0.52906	T	0.07	-42.2769	11.4431	0.50109	1.0:0.0:0.0:0.0	.	392;392	C9JIF9;P13798	.;ACPH_HUMAN	G	392	ENSP00000296456:D392G;ENSP00000415862:D392G	ENSP00000296456:D392G	D	+	2	0	APEH	49692046	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.777000	0.62361	1.919000	0.55581	0.379000	0.24179	GAC		0.612	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	59	0	0	0	1	0	3	59					G	49717042	A	G	49717042	3	3	30	1	0	0	0	0	1	0	0	0	768	275	10	4	1225	4	APEH	3	49717042	Missense_Mutation	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		49717042	148305388	2	557										
RGS12	6002	broad.mit.edu	37	chr4	3441319	3441319	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ggaggtcgcaggccagtggtGggcctcctacatcagacctc					rs202034488		TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr4:3441319delG	ENST00000344733.5	+	18	5156	c.4252delG	c.(4252-4254)gggfs	p.G1418fs	HGFAC_ENST00000511533.1_5'Flank|RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1418					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCCAGTGGTGGGCCTCCTAC	0.667																																						ENST00000344733.5																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4252-4254)ggfs		regulator of G-protein signaling 12							30	29	29					4																	3441319		2201	4295	6496	SO:0001589	frameshift_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441319delG	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4252delG	4.37:g.3441319delG	ENSP00000339381:p.Gly1418fs					RGS12_ENST00000338806.4_Frame_Shift_Del_p.G770fs	p.G1418fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5156	+			1418					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	c.4252delG	CCDS3366.1																																																																																				0.667	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		7	20						7	20	---	---	---	---	-	3441319	G	-	3441319	7	5	30	1	0	1	0	1	0	0	0	0	13295	1348	47	0	4393	0	RGS12	4	3441319	Frame_Shift_Del	DEL	G	TCGA-QR-A705-01A-11D-A35D-08		3441319	187712957	3	558										
MBLAC2	153364	broad.mit.edu	37	chr5	89770075	89770076	+	Frame_Shift_Del	DEL	AG	AG	-													0	0	1	0	0	0	1	1	0	tccagaagataccatcgcctAgagacttgtgggcgtaccac					rs373346589		TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr5:89770075_89770076delAG	ENST00000316610.6	-	1	509_510	c.34_35delCT	c.(34-36)ctafs	p.L12fs	MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs|POLR3G_ENST00000504930.1_5'Flank|POLR3G_ENST00000399107.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	12						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						ACCATCGCCTAGAGACTTGTGG	0.619																																						ENST00000316610.6																			0				kidney(1)|liver(1)|lung(3)	5						c.(34-36)afs		metallo-beta-lactamase domain containing 2																																				SO:0001589	frameshift_variant	153364						hydrolase activity|metal ion binding	g.chr5:89770075_89770076delAG	BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.34_35delCT	5.37:g.89770077_89770078delAG	ENSP00000314776:p.Leu12fs					MBLAC2_ENST00000514906.1_Frame_Shift_Del_p.L12fs	p.L12fs	NM_203406.1	NP_981951.1	Q68D91	MBLC2_HUMAN			1	509_510	-			12					D6RJI1|Q8IY16|Q8N8D8	Frame_Shift_Del	DEL	ENST00000316610.6	37	c.34_35delCT	CCDS4067.1																																																																																				0.619	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254098.2	NM_203406		9	23						9	23	---	---	---	---	-	89770076	AG	-	89770075	7	5	30	1	0	1	0	1	0	0	0	0	9352	420	15	0	812	0	MBLAC2	5	89770075	Frame_Shift_Del	DEL	AG	TCGA-QR-A705-01A-11D-A35D-08		89770075	91145185	4	559										
KIAA0141	9812	broad.mit.edu	37	chr5	141309157	141309157	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctttccagcactgcgacaAcacatcctccccagccccga	5	20	1	0			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr5:141309157A>G	ENST00000432126.2	+	5	557	c.423A>G	c.(421-423)caA>caG	p.Q141Q	KIAA0141_ENST00000194118.4_Silent_p.Q141Q	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	141					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCGACAACACATCCTCC	0.632																																						ENST00000432126.2																			0				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16						c.(421-423)caA>caG		KIAA0141							69	72	71					5																	141309157		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141309157A>G	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.423A>G	5.37:g.141309157A>G						KIAA0141_ENST00000194118.4_Silent_p.Q141Q	p.Q141Q	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	557	+		all_hematologic(541;0.118)	141					Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.423A>G	CCDS4268.1																																																																																				0.632	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		4	60	0	0	0	1	0	4	60					G	141309157	A	G	141309157	2	3	30	1	0	0	0	0	0	0	0	1	8156	40	2	4		4	KIAA0141	5	141309157	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08	51539082	141309157	39606103	5	560										
SLC17A1	6568	broad.mit.edu	37	chr6	25799051	25799051	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttctttagcccagtcctGaatttctgctgtagcaacta	6	10	2	1			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:25799051G>T	ENST00000244527.4	-	12	1481	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	456					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCAGTCCTGAATTTCTGCT	0.428																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1366-1368)Cag>Aag		solute carrier family 17 (organic anion transporter), member 1							116	110	112					6																	25799051		2203	4300	6503	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25799051G>T		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"Solute carriers"	10929	protein-coding gene	gene with protein product		182308	"solute carrier family 17 (sodium phosphate), member 1"	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1366C>A	6.37:g.25799051G>T	ENSP00000244527:p.Gln456Lys					SLC17A1_ENST00000427328.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000468082.1_Missense_Mutation_p.Q402K|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Q456K	p.Q456K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			12	1481	-			456					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.1366C>A	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500154	0.64298	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	3.97	3.97	0.46021	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.35585	N	0.003108	T	0.72104	0.3419	M	0.93016	3.37	0.37866	D	0.929891	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79262	-0.1876	10	0.87932	D	0	.	11.7678	0.51941	0.0:0.0:1.0:0.0	.	402;456	Q14916-2;Q14916	.;NPT1_HUMAN	K	456;402;456;402	ENSP00000244527:Q456K;ENSP00000410549:Q402K;ENSP00000420614:Q456K;ENSP00000420546:Q402K	ENSP00000244527:Q456K	Q	-	1	0	SLC17A1	25907030	0.995000	0.38212	0.994000	0.49952	0.792000	0.44763	3.863000	0.56016	2.216000	0.71823	0.655000	0.94253	CAG		0.428	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			4	83	1	0	0.014758	1	0.014758	4	83					T	25799051	G	T	25799051	3	4	30	1	0	0	0	0	1	0	0	0	14416	1299	45	5	41	5	SLC17A1	6	25799051	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08		25799051	145316016	6	561										
ABCC10	89845	broad.mit.edu	37	chr6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accccaccagctgggcaccgGctggctgacccaggggggcg	16	16	0	1			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:43415432G>A	ENST00000372530.4	+	18	3931	c.3716G>A	c.(3715-3717)gGc>gAc	p.G1239D	ABCC10_ENST00000244533.3_Missense_Mutation_p.G1211D	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTGGGCACCGGCTGGCTGACC	0.632																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3631-3633)gGc>gAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							145	172	163					6																	43415432		2203	4298	6501	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415432G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3716G>A	6.37:g.43415432G>A	ENSP00000361608:p.Gly1239Asp					ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	p.G1211D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	3991	+	all_lung(25;0.00536)		1239					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3632G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991602	0.18966	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90900	-2.74;-2.75	5.61	4.74	0.60224	.	0.479972	0.23496	N	0.047559	T	0.60327	0.2260	N	0.12746	0.255	0.34207	D	0.673873	B;B	0.11235	0.001;0.004	B;B	0.10450	0.005;0.004	T	0.51458	-0.8703	10	0.02654	T	1	-22.9541	5.3476	0.16018	0.2734:0.0:0.7266:0.0	.	1211;1239	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	D	1239;1211	ENSP00000361608:G1239D;ENSP00000244533:G1211D	ENSP00000244533:G1211D	G	+	2	0	ABCC10	43523410	0.921000	0.31238	0.967000	0.41034	0.517000	0.34286	1.539000	0.36104	2.641000	0.89580	0.591000	0.81541	GGC		0.632	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		6	308	0	0	0	1	0	6	308					A	43415432	G	A	43415432	3	1	30	1	0	0	0	0	1	0	0	0	50	1203	42	3	3694	3	ABCC10	6	43415432	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08	17616381	43415432	127699635	7	562										
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctttcacagttaggtccaGcataattttcgttacaaatg	6	9	1	0			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282	295	291					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	329	0	0	0	1	0	5	329					A	112522827	G	A	112522827	3	1	30	1	0	0	0	0	1	0	0	0	8608	971	34	3	5126	3	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08	69107395	112522827	58592240	8	563										
HEATR2	54919	broad.mit.edu	37	chr7	803452	803452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaacctccaggcacaggagAcgatggactcactggccatg	12	12	1	1			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr7:803452A>G	ENST00000297440.6	+	8	1644	c.1624A>G	c.(1624-1626)Acg>Gcg	p.T542A	HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	542						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGCACAGGAGACGATGGACTC	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1624-1626)Acg>Gcg		HEAT repeat containing 2							126	106	113					7																	803452		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:803452A>G	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1624A>G	7.37:g.803452A>G	ENSP00000297440:p.Thr542Ala					HEATR2_ENST00000313147.5_Missense_Mutation_p.T542A	p.T542A	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1644	+		Ovarian(82;0.0112)	542					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1624A>G	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.39|12.39	1.923209|1.923209	0.33908|0.33908	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.64260	.|-0.09;-0.09	5.03|5.03	1.2|1.2	0.21068|0.21068	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.186576	.|0.45361	.|N	.|0.000373	T|T	0.65344|0.65344	0.2682|0.2682	L|L	0.60012|0.60012	1.86|1.86	0.45403|0.45403	D|D	0.998387|0.998387	.|D;D	.|0.63046	.|0.963;0.992	.|P;P	.|0.59487	.|0.621;0.858	T|T	0.59841|0.59841	-0.7378|-0.7378	5|10	.|0.18276	.|T	.|0.48	-27.7328|-27.7328	8.5625|8.5625	0.33520|0.33520	0.7597:0.0:0.2403:0.0|0.7597:0.0:0.2403:0.0	.|.	.|542;288	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	G|A	343|542;542;288	.|ENSP00000297440:T542A;ENSP00000321451:T542A	.|ENSP00000297440:T542A	D|T	+|+	2|1	0|0	HEATR2|HEATR2	769978|769978	1.000000|1.000000	0.71417|0.71417	0.598000|0.598000	0.28837|0.28837	0.015000|0.015000	0.08874|0.08874	2.779000|2.779000	0.47734|0.47734	0.021000|0.021000	0.15133|0.15133	-0.366000|-0.366000	0.07423|0.07423	GAC|ACG		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		33	55	0	0	0	1	0	33	55					G	803452	A	G	803452	3	3	30	1	0	0	0	0	1	0	0	0	7028	275	10	4	1654	4	HEATR2	7	803452	Missense_Mutation	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		803452	158335211	9	564										
FBXO32	114907	broad.mit.edu	37	chr8	124526522	124526522	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatattcatgaagttcttttGggcgatgccactcagggatg	11	7	3	1			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr8:124526522G>C	ENST00000517956.1	-	5	615	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	FBXO32_ENST00000443022.2_Intron	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	142					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTTCTTTTGGGCGATGCCA	0.443																																						ENST00000517956.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.(424-426)Caa>Gaa		F-box protein 32							80	67	71					8																	124526522		2203	4300	6503	SO:0001583	missense	114907							g.chr8:124526522G>C	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"F-boxes /  "other""	16731	protein-coding gene	gene with protein product		606604	"F-box only protein 32"			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.424C>G	8.37:g.124526522G>C	ENSP00000428205:p.Gln142Glu					FBXO32_ENST00000443022.2_Intron	p.Q142E	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		5	615	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		142					A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	c.424C>G	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976027	0.92982	.	.	ENSG00000156804	ENST00000517956	T	0.19105	2.17	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62224	-0.6899	10	0.59425	D	0.04	-5.9057	19.5555	0.95345	0.0:0.0:1.0:0.0	.	142	Q969P5	FBX32_HUMAN	E	142	ENSP00000428205:Q142E	ENSP00000428205:Q142E	Q	-	1	0	FBXO32	124595703	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.619000	0.88677	0.491000	0.48974	CAA		0.443	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			9	20	0	0	0	1	0	9	20					C	124526522	G	C	124526522	3	2	30	1	0	0	0	0	1	0	0	0	5742	1357	47	5	663	5	FBXO32	8	124526522	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08		124526522	21837500	10	565										
PRUNE2	158471	broad.mit.edu	37	chr9	79267432	79267432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ctcaaaagaatctgcttcatCgggggtatcaagttcatcca	8	10	5	1	rs535266328		TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:79267432C>T	ENST00000376718.3	-	11	8647	c.8524G>A	c.(8524-8526)Gat>Aat	p.D2842N	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2483N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2842					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTTCATCGGGGGTATCA	0.393																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7447-7449)Gat>Aat		prune homolog 2 (Drosophila)							255	235	241					9																	79267432		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79267432C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8524G>A	9.37:g.79267432C>T	ENSP00000365908:p.Asp2842Asn					PRUNE2_ENST00000443509.2_Missense_Mutation_p.D91N|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D106N|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2842N	p.D2483N			Q8WUY3	PRUN2_HUMAN			11	8647	-			2842					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7447G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844204|4.844204	0.91197|0.91197	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.60171|.	0.67;0.6;0.46;0.78;0.21;0.7|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;0.989;1.0|.	D;D;D;P;D|.	0.97110|.	0.993;0.951;0.991;0.882;1.0|.	T|T	0.77574|0.77574	-0.2537|-0.2537	10|5	0.31617|.	T|.	0.26|.	-29.0138|-29.0138	19.9659|19.9659	0.97266|0.97266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106;106;91;2842;2842|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	N|Q	106;2842;2483;60;91;12;106;2841|2163	ENSP00000365907:D106N;ENSP00000365908:D2842N;ENSP00000397425:D2483N;ENSP00000393843:D91N;ENSP00000393657:D12N;ENSP00000223609:D106N|.	ENSP00000223609:D106N|.	D|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78457252|78457252	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.627000|0.627000	0.37826|0.37826	5.656000|5.656000	0.67988|0.67988	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.393	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	173	0	0	0	1	0	8	173					T	79267432	C	T	79267432	3	4	30	1	0	0	0	0	1	0	0	0	12641	884	31	2	778	2	PRUNE2	9	79267432	Missense_Mutation	SNP	C	TCGA-QR-A705-01A-11D-A35D-08		79267432	61945999	11	566										
PTGS1	5742	broad.mit.edu	37	chr9	125145882	125145882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccccagagccagatggctgTgggccaggaggtgtttgggc	18	10	0	2			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:125145882T>C	ENST00000362012.2	+	8	862	c.857T>C	c.(856-858)gTg>gCg	p.V286A	PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A|PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	286					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGATGGCTGTGGGCCAGGAG	0.617																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(856-858)gTg>gCg		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						80	68	72					9																	125145882		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125145882T>C	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.857T>C	9.37:g.125145882T>C	ENSP00000354612:p.Val286Ala					PTGS1_ENST00000373698.5_Missense_Mutation_p.V177A|PTGS1_ENST00000540753.1_Missense_Mutation_p.V261A|PTGS1_ENST00000223423.4_Missense_Mutation_p.V286A	p.V286A	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			8	862	+			286					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.857T>C	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514825	0.64634	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.31	4.17	0.49024	.	0.227351	0.46758	D	0.000264	T	0.72061	0.3414	M	0.62266	1.93	0.42906	D	0.994249	B;B;B	0.28324	0.023;0.207;0.128	B;P;B	0.48770	0.202;0.589;0.272	T	0.71500	-0.4574	10	0.51188	T	0.08	-19.7193	11.8348	0.52316	0.0:0.0:0.1467:0.8532	.	261;286;286	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	A	261;286;286;177	ENSP00000437709:V261A;ENSP00000354612:V286A;ENSP00000223423:V286A;ENSP00000362802:V177A	ENSP00000223423:V286A	V	+	2	0	PTGS1	124185703	1.000000	0.71417	0.920000	0.36463	0.539000	0.34962	6.306000	0.72810	0.849000	0.35215	-0.375000	0.07067	GTG		0.617	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			21	40	0	0	0	1	0	21	40					C	125145882	T	C	125145882	3	2	30	1	0	0	0	0	1	0	0	0	12755	1696	59	4	887	4	PTGS1	9	125145882	Missense_Mutation	SNP	T	TCGA-QR-A705-01A-11D-A35D-08	45878450	125145882	16067549	12	567										
TOR1A	1861	broad.mit.edu	37	chr9	132576411	132576411	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgcatttccactcggataCacatttttaggtgtttgtat	7	8	0	0			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr9:132576411C>A	ENST00000351698.4	-	5	887	c.839G>T	c.(838-840)tGt>tTt	p.C280F		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	280	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CACTCGGATACACATTTTTAG	0.453																																						ENST00000351698.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(838-840)tGt>tTt		torsin family 1, member A (torsin A)							179	171	174					9																	132576411		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132576411C>A	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.839G>T	9.37:g.132576411C>A	ENSP00000345719:p.Cys280Phe						p.C280F	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			5	887	-		Ovarian(14;0.00556)	280					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.839G>T	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090895	0.76756	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.39056	1.1	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83054	-0.0151	10	0.87932	D	0	-10.6772	17.8532	0.88754	0.0:1.0:0.0:0.0	.	280	O14656	TOR1A_HUMAN	F	249;280	ENSP00000345719:C280F	ENSP00000345719:C280F	C	-	2	0	TOR1A	131616232	1.000000	0.71417	0.994000	0.49952	0.604000	0.37047	7.487000	0.81328	2.439000	0.82584	0.561000	0.74099	TGT		0.453	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		4	173	1	0	3.59834e-05	1	3.73673e-05	4	173					A	132576411	C	A	132576411	3	1	30	1	0	0	0	0	1	0	0	0	16368	478	17	5	163	5	TOR1A	9	132576411	Missense_Mutation	SNP	C	TCGA-QR-A705-01A-11D-A35D-08	7430529	132576411	8637020	13	568										
ZEB1	6935	broad.mit.edu	37	chr10	31812941	31812941	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattctacaccgcccaaaaaGaaaatgcggaagacagaaaa	8	9	1	3			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr10:31812941G>T	ENST00000320985.10	+	8	2792	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N|ZEB1_ENST00000446923.2_Missense_Mutation_p.K878N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	894					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CGCCCAAAAAGAAAATGCGGA	0.378																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2632-2634)aaG>aaT		zinc finger E-box binding homeobox 1							102	102	102					10																	31812941		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31812941G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2682G>T	10.37:g.31812941G>T	ENSP00000319248:p.Lys894Asn					ZEB1_ENST00000361642.5_Missense_Mutation_p.K895N|ZEB1_ENST00000320985.10_Missense_Mutation_p.K894N|ZEB1_ENST00000542815.3_Missense_Mutation_p.K827N|ZEB1_ENST00000560721.2_Missense_Mutation_p.K874N	p.K878N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			8	3025	+		Prostate(175;0.0156)	894					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2634G>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411449	0.83340	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58	5.72	4.82	0.62117	.	0.206483	0.34025	N	0.004340	T	0.17280	0.0415	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.972;0.999;0.999	D;D;P;D;D	0.97110	1.0;0.991;0.76;0.991;0.991	T	0.00230	-1.1897	10	0.62326	D	0.03	-21.4158	11.3922	0.49822	0.1558:0.0:0.8442:0.0	.	827;878;874;895;894	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	N	676;894;895;889;827;894;874;785;878	ENSP00000444282:K676N;ENSP00000354487:K895N;ENSP00000444891:K827N;ENSP00000319248:K894N;ENSP00000391612:K878N	ENSP00000319248:K894N	K	+	3	2	ZEB1	31852947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.976000	0.88070	1.441000	0.47550	0.585000	0.79938	AAG		0.378	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		12	108	1	0	1.08611e-07	1	1.22187e-07	12	108					T	31812941	G	T	31812941	3	4	30	1	0	0	0	0	1	0	0	0	17620	933	33	5	2726	5	ZEB1	10	31812941	Missense_Mutation	SNP	G	TCGA-QR-A705-01A-11D-A35D-08		31812941	103721806	14	569										
SERPINB2	5055	broad.mit.edu	37	chr18	61565020	61565020	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccaggcagtagacttcctAgaatgtgcagaagaagctag	11	10	0	4			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chr18:61565020A>G	ENST00000299502.4	+	5	557	c.477A>G	c.(475-477)ctA>ctG	p.L159L	SERPINB2_ENST00000457692.1_Silent_p.L159L|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	159					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)			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)	TAGACTTCCTAGAATGTGCAG	0.338																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(475-477)ctA>ctG		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						60	64	63					18																	61565020		2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61565020A>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.477A>G	18.37:g.61565020A>G						SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.L159L	p.L159L	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			6	810	+		Esophageal squamous(42;0.131)	159					Q96E96	Silent	SNP	ENST00000299502.4	37	c.477A>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	A	7.914	0.737108	0.15574	.	.	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.6	1.65	0.23941	.	.	.	.	.	T	0.24699	0.0599	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23547	-1.0185	4	.	.	.	.	4.2545	0.10710	0.4858:0.0:0.3582:0.1561	.	.	.	.	G	36	.	.	R	+	1	2	SERPINB10	59716000	0.000000	0.05858	0.942000	0.38095	0.890000	0.51754	0.298000	0.19120	0.081000	0.16988	0.528000	0.53228	AGA		0.338	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		33	59	0	0	0	1	0	33	59					G	61565020	A	G	61565020	2	3	30	1	0	0	0	0	0	0	0	1	14101	407	15	4		4	SERPINB2	18	61565020	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		61565020	16512228	15	570										
KAL1	3730	broad.mit.edu	37	chrX	8536370	8536370	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggcttgcaattccacaacAtagtcacagtctggctggag	10	10	2	0			TCGA-QR-A705-01A-11D-A35D-08	TCGA-QR-A705-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01fb89f0-23bc-42fe-9089-cff2328a7366	e97ed982-0b79-4019-b01c-3fad7dd97944	g.chrX:8536370A>G	ENST00000262648.3	-	8	1259	c.1110T>C	c.(1108-1110)taT>taC	p.Y370Y		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	370	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ATTCCACAACATAGTCACAGT	0.443																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1108-1110)taT>taC		Kallmann syndrome 1 sequence							162	103	123					X																	8536370		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8536370A>G		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1110T>C	X.37:g.8536370A>G							p.Y370Y	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			8	1259	-			370			Fibronectin type-III 2.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.1110T>C	CCDS14130.1																																																																																				0.443	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		4	48	0	0	0	1	0	4	48					G	8536370	A	G	8536370	2	3	30	1	0	0	0	0	0	0	0	1	7974	224	8	4		4	KAL1	23	8536370	Silent	SNP	A	TCGA-QR-A705-01A-11D-A35D-08		8536370	146734190	16	571										
CAMTA1	23261	broad.mit.edu	37	chr1	7725039	7725039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	acagtcagaggacggggcgcGggcccccttcacccaggcag	15	15	2	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr1:7725039G>A	ENST00000303635.7	+	9	2639	c.2432G>A	c.(2431-2433)cGg>cAg	p.R811Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	811					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACGGGGCGCGGGCCCCCTTC	0.687			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2431-2433)cGg>cAg		calmodulin binding transcription activator 1							66	81	76					1																	7725039		2203	4296	6499	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725039G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2432G>A	1.37:g.7725039G>A	ENSP00000306522:p.Arg811Gln					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811Q	p.R811Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2639	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	811					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2432G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.360749	0.24598	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21543	2.0;2.0	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.47716	1.5	0.29915	N	0.823262	D	0.76494	0.999	D	0.72625	0.978	T	0.09122	-1.0689	10	0.14252	T	0.57	-16.616	12.0148	0.53307	0.0798:0.0:0.9202:0.0	.	811	Q9Y6Y1	CMTA1_HUMAN	Q	811	ENSP00000306522:R811Q;ENSP00000402561:R811Q	ENSP00000306522:R811Q	R	+	2	0	CAMTA1	7647626	1.000000	0.71417	0.337000	0.25536	0.388000	0.30384	9.067000	0.93955	2.406000	0.81754	0.478000	0.44815	CGG		0.687	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		6	160	0	0	0	1	0	6	160					A	7725039	G	A	7725039	3	1	31	1	0	0	0	0	1	0	0	0	2613	1116	39	2	2466	2	CAMTA1	1	7725039	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		7725039	241525582	1	572										
GBA	2629	broad.mit.edu	37	chr1	155207218	155207218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	agtactgttggcgagggtagGacctaggtcacgggcaatga	16	7	1	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr1:155207218G>A	ENST00000327247.5	-	8	1145	c.913C>T	c.(913-915)Cct>Tct	p.P305S	GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.P218S|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.P305S|GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000427500.3_Missense_Mutation_p.P256S	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	305			P -> R (in GD; mild).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GCGAGGGTAGGACCTAGGTCA	0.572									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CM057095	GBA	M		c.(652-654)Cct>Tct		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						145	118	127					1																	155207218		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207218G>A	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.913C>T	1.37:g.155207218G>A	ENSP00000314508:p.Pro305Ser					GBA_ENST00000327247.5_Missense_Mutation_p.P305S|GBA_ENST00000427500.2_Missense_Mutation_p.P256S|GBA_ENST00000536770.1_Missense_Mutation_p.P192S|GBA_ENST00000368373.3_Missense_Mutation_p.P305S	p.P218S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1154	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		305					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.652C>T	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	17.50	3.404367	0.62288	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43;-6.43	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.99687	0.9882	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.97680	1.0172	10	0.87932	D	0	-11.7654	10.6675	0.45739	0.0:0.0:1.0:0.0	.	256;192;305	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	S	256;218;305;305;192;262;290	ENSP00000402577:P256S;ENSP00000397986:P218S;ENSP00000357357:P305S;ENSP00000314508:P305S;ENSP00000445560:P192S	ENSP00000314508:P305S	P	-	1	0	GBA	153473842	1.000000	0.71417	0.812000	0.32479	0.492000	0.33523	8.739000	0.91574	1.948000	0.56530	0.313000	0.20887	CCT		0.572	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		14	40	0	0	0	1	0	14	40					A	155207218	G	A	155207218	3	1	31	1	0	0	0	0	1	0	0	0	6266	1174	41	3	717	3	GBA	1	155207218	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	147482179	155207218	94043403	2	573										
LEPREL1	55214	broad.mit.edu	37	chr3	189704595	189704595	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	accggttcagtgtatgaaaaCcccagaccttctgcagctga	9	12	2	3			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr3:189704595C>A	ENST00000319332.5	-	6	1367	c.1170G>T	c.(1168-1170)ggG>ggT	p.G390G	LEPREL1_ENST00000427335.2_Silent_p.G209G	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	390					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGTATGAAAACCCCAGACCTT	0.353																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1168-1170)ggG>ggT		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						110	119	116					3																	189704595		2203	4300	6503	SO:0001819	synonymous_variant	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189704595C>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1170G>T	3.37:g.189704595C>A						LEPREL1_ENST00000427335.2_Silent_p.G209G	p.G390G	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	6	1367	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		390					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Silent	SNP	ENST00000319332.5	37	c.1170G>T	CCDS3294.1																																																																																				0.353	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		10	173	1	0	7.03913e-09	1	7.82125e-09	10	173					A	189704595	C	A	189704595	2	1	31	1	0	0	0	0	0	0	0	1	8730	494	18	5		5	LEPREL1	3	189704595	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		189704595	8317835	3	574										
HTT	3064	broad.mit.edu	37	chr4	3214432	3214432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	gaaattcgtggtggcaacccTtgaggtaagaggcagctcgg	15	8	0	2			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr4:3214432T>G	ENST00000355072.5	+	49	6915	c.6770T>G	c.(6769-6771)cTt>cGt	p.L2257R		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2257					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCAACCCTTGAGGTAAGA	0.527																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(6769-6771)cTt>cGt		huntingtin							87	90	89					4																	3214432		1986	4160	6146	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3214432T>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6770T>G	4.37:g.3214432T>G	ENSP00000347184:p.Leu2257Arg						p.L2257R	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	49	6915	+		all_epithelial(65;0.18)	2257					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.6770T>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.537812	0.27475	.	.	ENSG00000197386	ENST00000355072	T	0.09255	3.0	5.51	5.51	0.81932	.	0.467264	0.21529	N	0.073080	T	0.14960	0.0361	L	0.53249	1.67	0.09310	N	1	P	0.34837	0.472	B	0.35470	0.203	T	0.10268	-1.0637	10	0.87932	D	0	.	15.6241	0.76840	0.0:0.0:0.0:1.0	.	2257	P42858	HD_HUMAN	R	2257	ENSP00000347184:L2257R	ENSP00000347184:L2257R	L	+	2	0	HTT	3184230	0.303000	0.24463	0.029000	0.17559	0.362000	0.29581	3.928000	0.56506	2.083000	0.62718	0.496000	0.49642	CTT		0.527	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		4	62	0	0	0	1	0	4	62					G	3214432	T	G	3214432	3	3	31	1	0	0	0	0	1	0	0	0	7457	1609	56	5	6964	5	HTT	4	3214432	Missense_Mutation	SNP	T	TCGA-QR-A706-01A-11D-A35D-08		3214432	187939844	4	575										
BDP1	55814	broad.mit.edu	37	chr5	70818186	70818186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	aattccaaaaggctaagccaAatttgggaagagcacacagt	9	8	0	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr5:70818186A>G	ENST00000358731.4	+	23	5325	c.5062A>G	c.(5062-5064)Aat>Gat	p.N1688D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1688					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGCTAAGCCAAATTTGGGAAG	0.383																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5062-5064)Aat>Gat		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							147	147	147					5																	70818186		1855	4096	5951	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70818186A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5062A>G	5.37:g.70818186A>G	ENSP00000351575:p.Asn1688Asp					BDP1_ENST00000380675.2_5'UTR	p.N1688D	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	23	5325	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1688					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5062A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174657	0.38413	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.13089	2.62	5.21	1.48	0.22813	.	0.342976	0.25169	N	0.032611	T	0.10423	0.0255	L	0.38531	1.155	0.80722	D	1	B;B	0.24576	0.106;0.044	B;B	0.28991	0.097;0.041	T	0.19386	-1.0307	10	0.30854	T	0.27	.	7.4575	0.27274	0.743:0.0:0.257:0.0	.	1688;1688	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	D	1688;1268	ENSP00000351575:N1688D	ENSP00000351575:N1688D	N	+	1	0	BDP1	70853942	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	2.126000	0.42026	0.016000	0.14998	0.454000	0.30748	AAT		0.383	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		4	174	0	0	0	1	0	4	174					G	70818186	A	G	70818186	3	3	31	1	0	0	0	0	1	0	0	0	1395	14	1	4	5152	4	BDP1	5	70818186	Missense_Mutation	SNP	A	TCGA-QR-A706-01A-11D-A35D-08		70818186	110097074	5	576										
HIST1H2BD	3017	broad.mit.edu	37	chr6	26158564	26158564	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	ccatcccgacaccggcatctCttccaaggcaatggggatca	9	15	2	0			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr6:26158564C>G	ENST00000289316.2	+	1	191	c.167C>G	c.(166-168)tCt>tGt	p.S56C	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	56					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						ACCGGCATCTCTTCCAAGGCA	0.567																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(166-168)tCt>tGt		histone cluster 1, H2bd							198	184	188					6																	26158564		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158564C>G	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"Histones / Replication-dependent"	4747	protein-coding gene	gene with protein product		602799	"H2B histone family, member B", "histone 1, H2bd"	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.167C>G	6.37:g.26158564C>G	ENSP00000289316:p.Ser56Cys					HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S56C	p.S56C	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	191	+			56						Missense_Mutation	SNP	ENST00000289316.2	37	c.167C>G	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	17.37	3.371665	0.61624	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.73789	-0.78;-0.78	5.19	4.3	0.51218	Histone-fold (2);Histone core (1);	0.000000	0.37906	N	0.001894	D	0.89146	0.6632	H	0.99626	4.665	0.39139	D	0.962005	D	0.65815	0.995	P	0.59221	0.854	D	0.92884	0.6325	10	0.87932	D	0	.	12.2024	0.54333	0.0:0.8519:0.0:0.1481	.	56	P58876	H2B1D_HUMAN	C	56	ENSP00000367008:S56C;ENSP00000289316:S56C	ENSP00000289316:S56C	S	+	2	0	HIST1H2BD	26266543	1.000000	0.71417	0.995000	0.50966	0.364000	0.29643	6.043000	0.71004	1.492000	0.48499	0.650000	0.86243	TCT		0.567	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		4	223	0	0	0	1	0	4	223					G	26158564	C	G	26158564	3	3	31	1	0	0	0	0	1	0	0	0	7143	913	32	5	169	5	HIST1H2BD	6	26158564	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		26158564	144956503	6	577										
AP4M1	9179	broad.mit.edu	37	chr7	99701079	99701079	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	acggagatgctgaggaatttCatccagacggaagctgtggt	14	7	1	3			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr7:99701079C>T	ENST00000359593.4	+	5	557	c.399C>T	c.(397-399)ttC>ttT	p.F133F	AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000421755.1_Silent_p.F133F|MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Silent_p.F140F	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	133					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAGGAATTTCATCCAGACGG	0.517																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(418-420)ttC>ttT		adaptor-related protein complex 4, mu 1 subunit							123	113	116					7																	99701079		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701079C>T	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"mu-adaptin-related protein-2", "mu subunit of AP-4", "AP-4 adapter complex mu subunit", "adaptor-related protein complex AP-4 mu4 subunit"	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.399C>T	7.37:g.99701079C>T						AP4M1_ENST00000421755.1_Silent_p.F133F|AP4M1_ENST00000422582.1_Silent_p.F5F|AP4M1_ENST00000359593.4_Silent_p.F133F	p.F140F			O00189	AP4M1_HUMAN			5	578	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		133					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.420C>T	CCDS5685.1																																																																																				0.517	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		4	93	0	0	0	1	0	4	93					T	99701079	C	T	99701079	2	4	31	1	0	0	0	0	0	0	0	1	753	825	29	3		3	AP4M1	7	99701079	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		99701079	59437584	7	578										
OR1J1	347168	broad.mit.edu	37	chr9	125239396	125239396	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	atcactgaagcaattatgttCttgtcattggtgttgctgga	10	6	3	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr9:125239396C>T	ENST00000259357.2	-	1	839	c.810G>A	c.(808-810)aaG>aaA	p.K270K	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAATTATGTTCTTGTCATTGG	0.418																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(808-810)aaG>aaA		olfactory receptor, family 1, subfamily J, member 1							158	152	154					9																	125239396		2203	4300	6503	SO:0001819	synonymous_variant	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239396C>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.810G>A	9.37:g.125239396C>T							p.K270K	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	839	-			270					A3KFL8|Q6IF10|Q96R88	Silent	SNP	ENST00000259357.2	37	c.810G>A	CCDS35120.1																																																																																				0.418	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			4	166	0	0	0	1	0	4	166					T	125239396	C	T	125239396	2	4	31	1	0	0	0	0	0	0	0	1	10959	912	32	3		3	OR1J1	9	125239396	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		125239396	15974035	8	579										
RASGRP2	10235	broad.mit.edu	37	chr11	64494798	64494798	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	aagtggatgtcaaacaccccAtcctccaccgtctgtacctc	6	16	2	0			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr11:64494798A>T	ENST00000354024.3	-	16	2058	c.1806T>A	c.(1804-1806)gaT>gaA	p.D602E	RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000377494.1_Missense_Mutation_p.D603E	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	602					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAACACCCCATCCTCCACCG	0.592																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1807-1809)gaT>gaA		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							148	106	120					11																	64494798		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64494798A>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1806T>A	11.37:g.64494798A>T	ENSP00000338864:p.Asp602Glu					RASGRP2_ENST00000377497.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000394432.3_Missense_Mutation_p.D602E|RASGRP2_ENST00000354024.3_Missense_Mutation_p.D602E	p.D603E			Q7LDG7	GRP2_HUMAN			15	2731	-			602					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1809T>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394853	0.25205	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.71579	-0.57;-0.58;-0.58;-0.58	5.54	-11.1	0.00147	.	0.377447	0.26130	N	0.026177	T	0.50514	0.1620	N	0.14661	0.345	0.80722	D	1	B;B	0.20261	0.043;0.043	B;B	0.15870	0.014;0.014	T	0.42464	-0.9450	10	0.72032	D	0.01	-24.3728	23.5442	0.99984	0.2015:0.0:0.7985:0.0	.	602;603	Q7LDG7;A6NDC7	GRP2_HUMAN;.	E	603;602;602;602	ENSP00000366714:D603E;ENSP00000377953:D602E;ENSP00000366717:D602E;ENSP00000338864:D602E	ENSP00000338864:D602E	D	-	3	2	RASGRP2	64251374	0.000000	0.05858	0.049000	0.19019	0.226000	0.24999	-4.331000	0.00251	-2.635000	0.00432	-0.411000	0.06167	GAT		0.592	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		4	80	0	0	0	1	0	4	80					T	64494798	A	T	64494798	3	4	31	1	0	0	0	0	1	0	0	0	13075	214	8	5	27	5	RASGRP2	11	64494798	Missense_Mutation	SNP	A	TCGA-QR-A706-01A-11D-A35D-08		64494798	70511718	9	580										
ADAMTS8	11095	broad.mit.edu	37	chr11	130297993	130297993	+	Frame_Shift_Del	DEL	G	G	-													0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	ggcgccaggcgcagcacgaaGcccttgccgaaggcggacag							TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr11:130297993delG	ENST00000257359.6	-	1	895	c.189delC	c.(187-189)ggcfs	p.G63fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	63					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGCACGAAGCCCTTGCCGA	0.776																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(187-189)ggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 8							2	3	2					11																	130297993		1278	3091	4369	SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130297993delG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.189delC	11.37:g.130297993delG	ENSP00000257359:p.Gly63fs						p.G63fs	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	1	895	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	63					Q9NZS0	Frame_Shift_Del	DEL	ENST00000257359.6	37	c.189delC	CCDS41732.1																																																																																				0.776	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		2	4						2	4	---	---	---	---	-	130297993	G	-	130297993	7	5	31	1	0	1	0	1	0	0	0	0	272	958	34	0	2516	0	ADAMTS8	11	130297993	Frame_Shift_Del	DEL	G	TCGA-QR-A706-01A-11D-A35D-08	65803195	130297993	4708523	10	581										
CACNA2D4	93589	broad.mit.edu	37	chr12	2017138	2017138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	gactccaggaggaactcggcGcccagctccacgaagttgcc	12	15	0	0			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr12:2017138G>A	ENST00000382722.5	-	5	914	c.552C>T	c.(550-552)ggC>ggT	p.G184G	CACNA2D4_ENST00000587995.1_Silent_p.G184G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000588077.1_Silent_p.G120G|CACNA2D4_ENST00000586184.1_Silent_p.G184G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	184					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGAACTCGGCGCCCAGCTCCA	0.602																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(550-552)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							58	63	61					12																	2017138		2109	4220	6329	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2017138G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.552C>T	12.37:g.2017138G>A						CACNA2D4_ENST00000586184.1_Silent_p.G184G|CACNA2D4_ENST00000587995.1_Silent_p.G184G|CACNA2D4_ENST00000585732.1_Silent_p.G184G|CACNA2D4_ENST00000585708.1_Silent_p.G120G|CACNA2D4_ENST00000588077.1_Silent_p.G120G	p.G184G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	5	914	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	184					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.552C>T	CCDS44785.1																																																																																				0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			4	68	0	0	0	1	0	4	68					A	2017138	G	A	2017138	2	1	31	1	0	0	0	0	0	0	0	1	2551	1074	38	1		1	CACNA2D4	12	2017138	Silent	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		2017138	131834757	11	582										
KLHDC5	57542	broad.mit.edu	37	chr12	27950726	27950726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	aacatgtgacgtccacattcGcaagcagcagatggtgtctg	11	10	1	2			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr12:27950726G>A	ENST00000381271.2	+	3	1456	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	382					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTCCACATTCGCAAGCAGCAG	0.542																																						ENST00000381271.2																			0											c.(1144-1146)cGc>cAc		kelch-like family member 42							159	154	156					12																	27950726		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950726G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1145G>A	12.37:g.27950726G>A	ENSP00000370671:p.Arg382His						p.R382H	NM_020782.1	NP_065833.1					3	1456	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1145G>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536505	0.85812	.	.	ENSG00000087448	ENST00000381271	T	0.67523	-0.27	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73297	-0.4027	10	0.15066	T	0.55	.	17.9151	0.88947	0.0:0.0:1.0:0.0	.	382	Q9P2K6	KLDC5_HUMAN	H	382	ENSP00000370671:R382H	ENSP00000370671:R382H	R	+	2	0	KLHDC5	27841993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.193000	0.94954	2.452000	0.82932	0.561000	0.74099	CGC		0.542	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		6	279	0	0	0	1	0	6	279					A	27950726	G	A	27950726	3	1	31	1	0	0	0	0	1	0	0	0	8359	1087	38	1	1155	1	KLHDC5	12	27950726	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	25933588	27950726	105901169	12	583										
OR4K15	81127	broad.mit.edu	37	chr14	20444562	20444562	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	tactcagttgacaaagtcctTgctgtattctacaccatctt	5	11	3	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr14:20444562T>G	ENST00000305051.5	+	1	960	c.885T>G	c.(883-885)ctT>ctG	p.L295L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAAAGTCCTTGCTGTATTCT	0.418																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(883-885)ctT>ctG		olfactory receptor, family 4, subfamily K, member 15							126	120	122					14																	20444562		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444562T>G		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"GPCR / Class A : Olfactory receptors"	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.885T>G	14.37:g.20444562T>G							p.L295L	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	960	+	all_cancers(95;0.00108)		295					B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.885T>G	CCDS32026.1																																																																																				0.418	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			4	133	0	0	0	1	0	4	133					G	20444562	T	G	20444562	2	3	31	1	0	0	0	0	0	0	0	1	11070	1799	63	5		5	OR4K15	14	20444562	Silent	SNP	T	TCGA-QR-A706-01A-11D-A35D-08		20444562	86904978	13	584										
TRPM1	4308	broad.mit.edu	37	chr15	31342749	31342749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	cttcttctccttctccgtggCtttgctgtccgtcgggggtg	12	13	3	0			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr15:31342749C>A	ENST00000256552.6	-	12	1447	c.1300G>T	c.(1300-1302)Gcc>Tcc	p.A434S	TRPM1_ENST00000542188.1_Missense_Mutation_p.A451S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCTCCGTGGCTTTGCTGTCC	0.557																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(1351-1353)Gcc>Tcc		transient receptor potential cation channel, subfamily M, member 1							93	91	92					15																	31342749		1952	4141	6093	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31342749C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1300G>T	15.37:g.31342749C>A	ENSP00000256552:p.Ala434Ser					TRPM1_ENST00000256552.6_Missense_Mutation_p.A434S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A412S	p.A451S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	11	1664	-		all_lung(180;1.92e-11)	412						Missense_Mutation	SNP	ENST00000256552.6	37	c.1351G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	0.804	-0.754389	0.03041	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52295	0.69;0.67;0.7	4.97	3.08	0.35506	.	1.583790	0.03430	N	0.207621	T	0.31295	0.0792	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.14578	0.011;0.005	T	0.24297	-1.0164	10	0.49607	T	0.09	-1.0063	6.777	0.23624	0.0:0.7084:0.0:0.2915	.	406;412	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	S	412;451;434;412	ENSP00000380897:A412S;ENSP00000437849:A451S;ENSP00000256552:A434S	ENSP00000256552:A434S	A	-	1	0	TRPM1	29130041	0.015000	0.18098	0.145000	0.22337	0.124000	0.20399	0.625000	0.24477	0.499000	0.27970	0.313000	0.20887	GCC		0.557	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		3	39	1	0	0.115264	1	0.115264	3	39					A	31342749	C	A	31342749	3	1	31	1	0	0	0	0	1	0	0	0	16582	797	28	5	3645	5	TRPM1	15	31342749	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		31342749	71188643	14	585										
PRKCB	5579	broad.mit.edu	37	chr16	24104120	24104120	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	tttctttttcagtaagagatGctaaaaaccttgtacctatg	6	7	2	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr16:24104120G>T	ENST00000321728.7	+	6	713	c.538G>T	c.(538-540)Gct>Tct	p.A180S	PRKCB_ENST00000303531.7_Missense_Mutation_p.A180S|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	180	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGTAAGAGATGCTAAAAACCT	0.418																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(538-540)Gct>Tct		protein kinase C, beta	Vitamin E(DB00163)						144	127	133					16																	24104120		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104120G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.538G>T	16.37:g.24104120G>T	ENSP00000318315:p.Ala180Ser					PRKCB_ENST00000321728.7_Missense_Mutation_p.A180S|PRKCB_ENST00000482000.1_3'UTR	p.A180S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	690	+			180			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.538G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224129	0.95139	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.64085	-0.08;-0.08	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.065087	0.64402	D	0.000015	T	0.80701	0.4673	M	0.91872	3.25	0.80722	D	1	D;P	0.53619	0.961;0.759	P;P	0.59357	0.856;0.794	T	0.80188	-0.1486	10	0.21014	T	0.42	.	18.0382	0.89311	0.0:0.0:1.0:0.0	.	180;180	P05771-2;P05771	.;KPCB_HUMAN	S	180	ENSP00000318315:A180S;ENSP00000305355:A180S	ENSP00000305355:A180S	A	+	1	0	PRKCB	24011621	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.378000	0.97191	2.577000	0.86979	0.555000	0.69702	GCT		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		5	115	1	0	0.000602214	1	0.00062298	5	115					T	24104120	G	T	24104120	3	4	31	1	0	0	0	0	1	0	0	0	12508	1319	46	5	560	5	PRKCB	16	24104120	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		24104120	66250633	15	586										
DBNDD1	79007	broad.mit.edu	37	chr16	90072754	90072754	+	Frame_Shift_Del	DEL	G	G	-													0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	ggagatggtctagtcctcctGgggcctctccacagtgagaa							TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr16:90072754delG	ENST00000002501.6	-	4	597	c.466delC	c.(466-468)cagfs	p.Q156fs	DBNDD1_ENST00000392973.3_Frame_Shift_Del_p.Q162fs|DBNDD1_ENST00000304733.3_Frame_Shift_Del_p.Q176fs|DBNDD1_ENST00000568838.1_Frame_Shift_Del_p.Q276fs	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	156						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		TAGTCCTCCTGGGGCCTCTCC	0.637																																						ENST00000392973.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(484-486)agfs		dysbindin (dystrobrevin binding protein 1) domain containing 1							38	46	44					16																	90072754		2075	4198	6273	SO:0001589	frameshift_variant	79007					cytoplasm		g.chr16:90072754delG	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.466delC	16.37:g.90072754delG	ENSP00000002501:p.Gln156fs					DBNDD1_ENST00000304733.3_Frame_Shift_Del_p.Q176fs|DBNDD1_ENST00000568838.1_Frame_Shift_Del_p.Q276fs|DBNDD1_ENST00000002501.6_Frame_Shift_Del_p.Q156fs	p.Q162fs			Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	1215	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	156					B4DQS3|Q69YT2|Q9BW25	Frame_Shift_Del	DEL	ENST00000002501.6	37	c.484delC	CCDS42223.1																																																																																				0.637	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		2	4						2	4	---	---	---	---	-	90072754	G	-	90072754	7	5	31	1	0	1	0	1	0	0	0	0	4253	1357	47	0	14	0	DBNDD1	16	90072754	Frame_Shift_Del	DEL	G	TCGA-QR-A706-01A-11D-A35D-08	65968634	90072754	281999	16	587										
ABCA9	10350	broad.mit.edu	37	chr17	66982411	66982411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	ccacagcgcattctcctgagGgcagtaccccaggaagccca	10	16	1	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr17:66982411G>A	ENST00000340001.4	-	32	4313	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1368	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCTCCTGAGGGCAGTACCCC	0.537																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4102-4104)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 9							117	99	105					17																	66982411		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982411G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4102C>T	17.37:g.66982411G>A	ENSP00000342216:p.Pro1368Ser					ABCA9_ENST00000453985.2_Missense_Mutation_p.P1330S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1368S	p.P1368S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4313	-	Breast(10;1.47e-12)		1368			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4102C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738364	0.69304	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	T;T	0.15017	2.46;2.46	4.87	3.84	0.44239	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.284029	0.24925	N	0.034508	T	0.41858	0.1177	M	0.75884	2.315	0.47994	D	0.999563	D;D	0.76494	0.999;0.999	D;D	0.83275	0.982;0.996	T	0.42599	-0.9442	10	0.87932	D	0	.	14.8597	0.70372	0.0:0.1435:0.8565:0.0	.	1368;1368	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1368;1313;1368	ENSP00000342216:P1368S;ENSP00000359767:P1368S	ENSP00000342216:P1368S	P	-	1	0	ABCA9	64494006	1.000000	0.71417	0.993000	0.49108	0.453000	0.32348	7.060000	0.76692	2.424000	0.82194	0.655000	0.94253	CCT		0.537	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		18	56	0	0	0	1	0	18	56					A	66982411	G	A	66982411	3	1	31	1	0	0	0	0	1	0	0	0	39	1232	43	3	804	3	ABCA9	17	66982411	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		66982411	14212799	17	588										
C17orf80	55028	broad.mit.edu	37	chr17	71232433	71232433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	tgttacagttactgagactcCagaaaagaacacagaatccc	7	10	0	4			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr17:71232433C>T	ENST00000535032.2	+	2	925	c.812C>T	c.(811-813)cCa>cTa	p.P271L	C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|C17orf80_ENST00000359042.2_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	271						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACTGAGACTCCAGAAAAGAAC	0.413																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(811-813)cCa>cTa		chromosome 17 open reading frame 80							45	46	45					17																	71232433		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232433C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.812C>T	17.37:g.71232433C>T	ENSP00000440551:p.Pro271Leu					C17orf80_ENST00000426147.2_Missense_Mutation_p.P271L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P271L|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P271L|C17orf80_ENST00000268942.8_Missense_Mutation_p.P271L|C17orf80_ENST00000535032.2_Missense_Mutation_p.P271L	p.P271L	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1006	+			271					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.812C>T	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960047	0.18507	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	4.21	-2.73	0.05950	.	1.874850	0.02257	N	0.067186	T	0.66117	0.2757	N	0.08118	0	0.09310	N	1	B;B;B;B	0.11235	0.001;0.004;0.002;0.001	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.51553	-0.8691	10	0.26408	T	0.33	2.3701	0.0473	0.00010	0.304:0.1709:0.2192:0.3058	.	271;271;271;271	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	L	271	ENSP00000255557:P271L;ENSP00000351937:P271L;ENSP00000268942:P271L;ENSP00000396970:P271L;ENSP00000440551:P271L	ENSP00000255557:P271L	P	+	2	0	C17orf80	68744028	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.598000	0.02087	-0.859000	0.04105	-0.410000	0.06199	CCA		0.413	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		3	32	0	0	0	1	0	3	32					T	71232433	C	T	71232433	3	4	31	1	0	0	0	0	1	0	0	0	1885	594	21	3	814	3	C17orf80	17	71232433	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08	4250022	71232433	9962777	18	589										
MAP1S	55201	broad.mit.edu	37	chr19	17831773	17831773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	tcttgggatgtcgatcctggCgtctgcaaccttgatgaaca	11	10	2	2			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:17831773C>T	ENST00000324096.4	+	2	298	c.147C>T	c.(145-147)ggC>ggT	p.G49G	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.G23G	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	49	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCGATCCTGGCGTCTGCAACC	0.572																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(145-147)ggC>ggT		microtubule-associated protein 1S							144	128	133					19																	17831773		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17831773C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.147C>T	19.37:g.17831773C>T						MAP1S_ENST00000544059.2_Silent_p.G23G|MAP1S_ENST00000597681.1_Intron	p.G49G	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			2	298	+			49			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.147C>T	CCDS32954.1																																																																																				0.572	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		10	176	0	0	0	1	0	10	176					T	17831773	C	T	17831773	2	4	31	1	0	0	0	0	0	0	0	1	9234	755	27	1		1	MAP1S	19	17831773	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		17831773	41297210	19	590										
ZNF599	148103	broad.mit.edu	37	chr19	35251041	35251041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	actcatagggcttcactccaGcatgaatctgttgatgccga	9	11	3	2			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:35251041G>A	ENST00000329285.8	-	4	1038	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTTCACTCCAGCATGAATCTG	0.478																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(664-666)gCt>gTt		zinc finger protein 599							189	186	187					19																	35251041		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251041G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.665C>T	19.37:g.35251041G>A	ENSP00000333802:p.Ala222Val						p.A222V	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1038	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		222					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.665C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672265	0.47781	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.17691	2.26	2.26	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13756	0.0333	L	0.28192	0.835	0.80722	D	1	B	0.29481	0.245	B	0.34489	0.184	T	0.15492	-1.0435	9	0.72032	D	0.01	.	10.6	0.45360	0.0:0.0:1.0:0.0	.	222	Q96NL3	ZN599_HUMAN	V	221;222;24	ENSP00000333802:A222V	ENSP00000333802:A222V	A	-	2	0	ZNF599	39942881	0.375000	0.25089	0.973000	0.42090	0.843000	0.47879	2.438000	0.44837	1.584000	0.49913	0.313000	0.20887	GCT		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		4	180	0	0	0	1	0	4	180					A	35251041	G	A	35251041	3	1	31	1	0	0	0	0	1	0	0	0	18026	971	34	3	1105	3	ZNF599	19	35251041	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	17419268	35251041	23877942	20	591										
SIPA1L3	23094	broad.mit.edu	37	chr19	38643532	38643532	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	ttgatccccacttcagccacGatgggacgtccagcggcgac	11	15	1	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr19:38643532G>C	ENST00000222345.6	+	13	4095	c.3586G>C	c.(3586-3588)Gat>Cat	p.D1196H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1196					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCAGCCACGATGGGACGTC	0.632																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3586-3588)Gat>Cat		signal-induced proliferation-associated 1 like 3							136	126	129					19																	38643532		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38643532G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3586G>C	19.37:g.38643532G>C	ENSP00000222345:p.Asp1196His						p.D1196H	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		13	4095	+			1196					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.3586G>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410921	0.62399	.	.	ENSG00000105738	ENST00000222345	T	0.44881	0.91	5.2	5.2	0.72013	.	0.254436	0.37483	N	0.002064	T	0.39279	0.1072	L	0.29908	0.895	0.52099	D	0.999941	P	0.50710	0.938	P	0.46299	0.511	T	0.35847	-0.9772	10	0.72032	D	0.01	-18.7771	15.6558	0.77133	0.0:0.0:1.0:0.0	.	1196	O60292	SI1L3_HUMAN	H	1196	ENSP00000222345:D1196H	ENSP00000222345:D1196H	D	+	1	0	SIPA1L3	43335372	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.546000	0.67243	2.430000	0.82344	0.467000	0.42956	GAT		0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	137	0	0	0	1	0	5	137					C	38643532	G	C	38643532	3	2	31	1	0	0	0	0	1	0	0	0	14331	1058	37	5	3628	5	SIPA1L3	19	38643532	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	3392491	38643532	20485451	21	592										
RFPL1	5988	broad.mit.edu	37	chr22	29837976	29837976	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	gtctatacattcaggagtgtCtctgctgaggagccactgca	11	10	3	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																						ENST00000354373.2																			2	Substitution - coding silent(2)	p.V273V(2)	lung(1)|endometrium(1)	endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(817-819)gtC>gtA		ret finger protein-like 1							116	96	103					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29837976C>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A						RFPL1S_ENST00000461286.2_RNA	p.V273V	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	1028	+			273			B30.2/SPRY.		Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.819C>A	CCDS13857.2																																																																																				0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		4	63	1	0	3.59834e-05	1	3.85536e-05	4	63					A	29837976	C	A	29837976	2	1	31	1	0	0	0	0	0	0	0	1	13253	900	32	5		5	RFPL1	22	29837976	Silent	SNP	C	TCGA-QR-A706-01A-11D-A35D-08		29837976	21466590	22	593										
DMC1	11144	broad.mit.edu	37	chr22	38916082	38916082	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	gcgaaggtggcttcattttcAggcatctcaggactaacaga	11	9	3	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chr22:38916082A>T	ENST00000216024.2	-	14	1242	c.966T>A	c.(964-966)ccT>ccA	p.P322P	DMC1_ENST00000428462.2_Silent_p.P267P	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	322					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CTTCATTTTCAGGCATCTCAG	0.403								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(964-966)ccT>ccA	Homologous recombination	DNA meiotic recombinase 1							107	99	102					22																	38916082		2203	4300	6503	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38916082A>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.966T>A	22.37:g.38916082A>T						DMC1_ENST00000428462.2_Silent_p.P267P	p.P322P	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			14	1242	-	Melanoma(58;0.0286)		322					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.966T>A	CCDS13973.1																																																																																				0.403	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		3	53	0	0	0	1	0	3	53					T	38916082	A	T	38916082	2	4	31	1	0	0	0	0	0	0	0	1	4579	175	7	5		5	DMC1	22	38916082	Silent	SNP	A	TCGA-QR-A706-01A-11D-A35D-08	9078106	38916082	12388484	23	594										
TRO	7216	broad.mit.edu	37	chrX	54949634	54949634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	gctagtgccaccgaggtctcGctggctgcaactgccaccca	11	16	1	0			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:54949634G>A	ENST00000173898.7	+	3	781	c.669G>A	c.(667-669)tcG>tcA	p.S223S	TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000319167.8_Silent_p.S223S	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	223					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCGAGGTCTCGCTGGCTGCAA	0.522																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(667-669)tcG>tcA		trophinin							48	52	50					X																	54949634		2119	4204	6323	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949634G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.669G>A	X.37:g.54949634G>A						TRO_ENST00000375022.4_Silent_p.S223S|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Silent_p.S223S|TRO_ENST00000399736.1_Intron	p.S223S	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			3	781	+			223					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.669G>A	CCDS43959.1																																																																																				0.522	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		3	28	0	0	0	1	0	3	28					A	54949634	G	A	54949634	2	1	31	1	0	0	0	0	0	0	0	1	16571	1074	38	1		1	TRO	23	54949634	Silent	SNP	G	TCGA-QR-A706-01A-11D-A35D-08		54949634	100320926	24	595										
ATP7A	538	broad.mit.edu	37	chrX	77258626	77258626	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	aggcagaagtaaggtataatCctgctgttatacaaccccca	8	10	0	1			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:77258626C>G	ENST00000341514.6	+	6	1755	c.1600C>G	c.(1600-1602)Cct>Gct	p.P534A	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	534	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGGTATAATCCTGCTGTTAT	0.393																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1600-1602)Cct>Gct		ATPase, Cu++ transporting, alpha polypeptide							179	163	169					X																	77258626		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77258626C>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1600C>G	X.37:g.77258626C>G	ENSP00000345728:p.Pro534Ala					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.P534A	p.P534A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			6	1755	+			534			HMA 5.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1600C>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697535	0.30142	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.88277	-2.36;-2.36	5.15	3.2	0.36748	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.125811	0.56097	N	0.000039	D	0.86426	0.5930	L	0.52011	1.625	0.80722	D	1	B;B	0.34103	0.437;0.362	B;B	0.37267	0.245;0.133	D	0.84620	0.0683	10	0.39692	T	0.17	-0.8192	14.9769	0.71281	0.0:0.7388:0.2612:0.0	.	534;544	Q04656;Q59HD1	ATP7A_HUMAN;.	A	534;534;544	ENSP00000343026:P534A;ENSP00000345728:P534A	ENSP00000345728:P534A	P	+	1	0	ATP7A	77145282	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	2.277000	0.43417	1.037000	0.40024	0.429000	0.28392	CCT		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		9	313	0	0	0	1	0	9	313					G	77258626	C	G	77258626	3	3	31	1	0	0	0	0	1	0	0	0	1190	855	30	5	1618	5	ATP7A	23	77258626	Missense_Mutation	SNP	C	TCGA-QR-A706-01A-11D-A35D-08	22308992	77258626	78011934	25	596										
MTM1	4534	broad.mit.edu	37	chrX	149807485	149807485	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.153846153846154	4	1	2.04179104477612	2.55223880597015	1.91417910447761	0.523809523809524	1	0	cagtttacaatccagtggaaGaatacaggaggcaggtaaga	12	6	0	2			TCGA-QR-A706-01A-11D-A35D-08	TCGA-QR-A706-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eb85fa4-db21-4218-99c8-13f214d68222	8a2d6255-25ae-463f-98ab-eeb976337d81	g.chrX:149807485G>A	ENST00000370396.2	+	7	568	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	MTM1_ENST00000413012.2_Missense_Mutation_p.E135K|MTM1_ENST00000542741.1_Missense_Mutation_p.E77K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	172	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTGGAAGAATACAGGAG	0.353																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(514-516)Gaa>Aaa		myotubularin 1							204	180	188					X																	149807485		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149807485G>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.514G>A	X.37:g.149807485G>A	ENSP00000359423:p.Glu172Lys					MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.E77K|MTM1_ENST00000413012.2_Missense_Mutation_p.E135K|MTM1_ENST00000543350.1_Missense_Mutation_p.E57K	p.E172K	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			7	568	+	Acute lymphoblastic leukemia(192;6.56e-05)		172			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.514G>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	34	5.338184	0.95758	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000424519;ENST00000413012	D;D;D;D;D	0.97016	-3.77;-3.77;-3.77;-4.21;-3.77	5.27	5.27	0.74061	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.99325	4.515	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.91635	0.983;0.999	D	0.99026	1.0819	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	135;172	B7Z491;Q13496	.;MTM1_HUMAN	K	172;77;57;101;135	ENSP00000359423:E172K;ENSP00000444015:E77K;ENSP00000439784:E57K;ENSP00000400699:E101K;ENSP00000389157:E135K	ENSP00000359423:E172K	E	+	1	0	MTM1	149558143	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.127000	0.94417	2.321000	0.78463	0.594000	0.82650	GAA		0.353	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	141	0	0	0	1	0	4	141					A	149807485	G	A	149807485	3	1	31	1	0	0	0	0	1	0	0	0	9937	943	33	3	536	3	MTM1	23	149807485	Missense_Mutation	SNP	G	TCGA-QR-A706-01A-11D-A35D-08	72548859	149807485	5463075	26	597										
KCNT2	343450	broad.mit.edu	37	chr1	196254823	196254823	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	tccaacatactgatgctaaaCaccctcccagcagcaaaagg	6	14	0	1			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr1:196254823C>A	ENST00000294725.9	-	23	3576	c.2661G>T	c.(2659-2661)gtG>gtT	p.V887V	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.V813V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.V813V|KCNT2_ENST00000367433.5_Silent_p.V863V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	887					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGATGCTAAACACCCTCCCAG	0.353																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2587-2589)gtG>gtT		potassium channel, subfamily T, member 2							86	83	84					1																	196254823		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254823C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2661G>T	1.37:g.196254823C>A						KCNT2_ENST00000367431.4_Silent_p.V813V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.V887V|KCNT2_ENST00000498426.1_5'UTR	p.V863V			Q6UVM3	KCNT2_HUMAN			22	2690	-			887					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2589G>T	CCDS1384.1																																																																																				0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	43	1	0	0.150653	1	0.150653	4	43					A	196254823	C	A	196254823	2	1	32	1	0	0	0	0	0	0	0	1	8092	465	17	5		5	KCNT2	1	196254823	Silent	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		196254823	52995798	1	598										
FAHD2A	51011	broad.mit.edu	37	chr2	96072903	96072903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	tggtcctcccaccacagagcCaggtcagtgtctccccactg	9	17	2	1			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr2:96072903C>A	ENST00000233379.4	+	3	613	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	154							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						ACCACAGAGCCAGGTCAGTGT	0.582																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(460-462)Cag>Aag		fumarylacetoacetate hydrolase domain containing 2A							99	100	100					2																	96072903		2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96072903C>A	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.460C>A	2.37:g.96072903C>A	ENSP00000233379:p.Gln154Lys					FAHD2A_ENST00000447036.1_Missense_Mutation_p.Q154K	p.Q154K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN			3	613	+			154					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.460C>A	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	C	6.712	0.500081	0.12762	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.94537	-3.45;-3.45	3.35	1.16	0.20824	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.560224	0.18836	N	0.129832	T	0.78910	0.4358	N	0.01679	-0.765	0.27020	N	0.964493	B	0.02656	0.0	B	0.06405	0.002	T	0.69187	-0.5211	10	0.06236	T	0.91	.	8.2512	0.31724	0.5974:0.4026:0.0:0.0	.	154	Q96GK7	FAH2A_HUMAN	K	154	ENSP00000406424:Q154K;ENSP00000233379:Q154K	ENSP00000233379:Q154K	Q	+	1	0	FAHD2A	95436630	0.991000	0.36638	0.983000	0.44433	0.874000	0.50279	0.475000	0.22164	0.657000	0.30906	0.561000	0.74099	CAG		0.582	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		4	64	1	0	1.23904e-05	1	1.39392e-05	4	64					A	96072903	C	A	96072903	3	1	32	1	0	0	0	0	1	0	0	0	5373	595	21	5	466	5	FAHD2A	2	96072903	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		96072903	147126470	2	599										
TTN	7273	broad.mit.edu	37	chr2	179397305	179397305	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	tcttcttcaagacgcagcctCtcttcctctgttcttttcat	4	14	7	1			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr2:179397305C>G	ENST00000591111.1	-	308	99338	c.99114G>C	c.(99112-99114)gaG>gaC	p.E33038D	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34679D|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33038					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACGCAGCCTCTCTTCCTCTG	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(104035-104037)gaG>gaC		titin							104	101	102					2																	179397305		1897	4135	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397305C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99114G>C	2.37:g.179397305C>G	ENSP00000465570:p.Glu33038Asp					TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32111D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33038D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25739D|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25806D|TTN_ENST00000460472.2_Missense_Mutation_p.E25614D|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.E34679D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	104261	-			33038					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.104037G>C		.	.	.	.	.	.	.	.	.	.	C	12.76	2.033771	0.35893	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;0.07;0.05;0.04	6.08	2.53	0.30540	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.61502	0.2352	N	0.19112	0.55	0.39925	D	0.974201	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.72625	0.978;0.978;0.978;0.978	T	0.63220	-0.6686	9	0.87932	D	0	.	7.3903	0.26905	0.0:0.5076:0.0:0.4924	.	25614;25739;25806;33038	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	32111;25614;25806;25739;25611	ENSP00000343764:E32111D;ENSP00000434586:E25614D;ENSP00000340554:E25806D;ENSP00000352154:E25739D	ENSP00000340554:E25806D	E	-	3	2	TTN	179105551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.764000	0.26532	0.715000	0.32103	0.655000	0.94253	GAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	139	0	0	0	1	0	5	139					G	179397305	C	G	179397305	3	3	32	1	0	0	0	0	1	0	0	0	16732	912	32	5	3962	5	TTN	2	179397305	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08	83324402	179397305	63802068	3	600										
CAND2	23066	broad.mit.edu	37	chr3	12851594	12851594	+	Frame_Shift_Del	DEL	C	C	-													0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	ggcgccttccacgccagcctCctgcactgtctgctgccaca							TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr3:12851594delC	ENST00000456430.2	+	5	569	c.528delC	c.(526-528)ctcfs	p.L177fs	CAND2_ENST00000295989.5_Frame_Shift_Del_p.L84fs|CAND2_ENST00000466558.1_3'UTR	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	177					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGCCAGCCTCCTGCACTGTC	0.751																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(526-528)ctfs		cullin-associated and neddylation-dissociated 2 (putative)							3	4	3					3																	12851594		1694	3696	5390	SO:0001589	frameshift_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12851594delC		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.528delC	3.37:g.12851594delC	ENSP00000387641:p.Leu177fs					CAND2_ENST00000295989.5_Frame_Shift_Del_p.L84fs|CAND2_ENST00000466558.1_3'UTR	p.L177fs	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			5	569	+			177					B9EGM9|E9KL24	Frame_Shift_Del	DEL	ENST00000456430.2	37	c.528delC	CCDS54554.1																																																																																				0.751	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		2	4						2	4	---	---	---	---	-	12851594	C	-	12851594	7	5	32	1	0	1	0	1	0	0	0	0	2616	842	30	0	546	0	CAND2	3	12851594	Frame_Shift_Del	DEL	C	TCGA-QR-A707-01A-11D-A35D-08		12851594	185170836	4	601										
SLC15A2	6565	broad.mit.edu	37	chr3	121647372	121647372	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	gtgggaaatgaaaacaattcTctgttgatagagtccatcaa	9	6	2	3			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr3:121647372T>A	ENST00000489711.1	+	15	1699	c.1311T>A	c.(1309-1311)tcT>tcA	p.S437S	SLC15A2_ENST00000295605.2_Silent_p.S406S|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	437					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAAACAATTCTCTGTTGATAG	0.428																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1309-1311)tcT>tcA		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						181	189	186					3																	121647372		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121647372T>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1311T>A	3.37:g.121647372T>A						SLC15A2_ENST00000295605.2_Silent_p.S406S|SLC15A2_ENST00000465060.1_3'UTR	p.S437S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	15	1699	+			437					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.1311T>A	CCDS3007.1																																																																																				0.428	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		5	89	0	0	0	1	0	5	89					A	121647372	T	A	121647372	2	1	32	1	0	0	0	0	0	0	0	1	14399	1538	54	5		5	SLC15A2	3	121647372	Silent	SNP	T	TCGA-QR-A707-01A-11D-A35D-08	108795778	121647372	76375058	5	602										
CD180	4064	broad.mit.edu	37	chr5	66479625	66479625	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	cgttgcctctgatgtagaggTgtgtaagggaggggaaattg	17	4	1	2			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr5:66479625T>A	ENST00000256447.4	-	3	1203	c.1046A>T	c.(1045-1047)cAc>cTc	p.H349L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	349					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GATGTAGAGGTGTGTAAGGGA	0.423																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(1045-1047)cAc>cTc		CD180 molecule							114	108	110					5																	66479625		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479625T>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1046A>T	5.37:g.66479625T>A	ENSP00000256447:p.His349Leu						p.H349L	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1203	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	349					B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1046A>T	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873425	0.51695	.	.	ENSG00000134061	ENST00000256447	T	0.56776	0.44	4.94	4.94	0.65067	.	0.149149	0.43260	D	0.000593	T	0.46425	0.1392	N	0.20766	0.605	0.47065	D	0.999307	D	0.69078	0.997	P	0.58130	0.833	T	0.33240	-0.9876	10	0.11485	T	0.65	.	9.3023	0.37853	0.0:0.0802:0.0:0.9198	.	349	Q99467	CD180_HUMAN	L	349	ENSP00000256447:H349L	ENSP00000256447:H349L	H	-	2	0	CD180	66515381	0.726000	0.28059	0.993000	0.49108	0.692000	0.40212	0.821000	0.27338	2.075000	0.62263	0.533000	0.62120	CAC		0.423	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		17	144	0	0	0	1	0	17	144					A	66479625	T	A	66479625	3	1	32	1	0	0	0	0	1	0	0	0	2972	1696	59	5	943	5	CD180	5	66479625	Missense_Mutation	SNP	T	TCGA-QR-A707-01A-11D-A35D-08		66479625	114435635	6	603										
ZNF184	7738	broad.mit.edu	37	chr6	27419847	27419847	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	cattcaaagggcttttctctCgtgtgaattctccgatgttg	9	9	3	1	rs199612610		TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:27419847C>T	ENST00000211936.6	-	6	1775	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	ZNF184_ENST00000377419.1_Silent_p.T497T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTTTTCTCTCGTGTGAATTC	0.393																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1489-1491)acG>acA		zinc finger protein 184							82	78	79					6																	27419847		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419847C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1491G>A	6.37:g.27419847C>T						ZNF184_ENST00000377419.1_Silent_p.T497T	p.T497T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1775	-			497					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.1491G>A	CCDS4624.1																																																																																				0.393	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		4	66	0	0	0	1	0	4	66					T	27419847	C	T	27419847	2	4	32	1	0	0	0	0	0	0	0	1	17748	871	31	2		2	ZNF184	6	27419847	Silent	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		27419847	143695220	7	604										
MUC21	394263	broad.mit.edu	37	chr6	30954121	30954121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	ccagtgtgacctccagtgggGtcagcacagccaccatctca	10	15	2	1	rs137862032	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:30954121G>A	ENST00000376296.3	+	2	410	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	57	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGTGGGGTCAGCACAGC	0.567																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(169-171)Gtc>Atc		mucin 21, cell surface associated		G	ILE/VAL	0,4406		0,0,2203	151	136	141		169	-3.4	0	6	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	no	missense	MUC21	NM_001010909.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	57/567	30954121	2,13004	2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954121G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.169G>A	6.37:g.30954121G>A	ENSP00000365473:p.Val57Ile					MUC21_ENST00000486149.2_5'UTR	p.V57I	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	410	+			57			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.169G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	7.413	0.635179	0.14322	0.0	2.33E-4	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01804	4.63	2.02	-3.37	0.04898	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.20368	0.044	B	0.21546	0.035	T	0.41610	-0.9499	9	0.32370	T	0.25	3.4664	2.7644	0.05316	0.4888:0.0:0.3016:0.2096	.	57	Q5SSG8	MUC21_HUMAN	I	57	ENSP00000365473:V57I	ENSP00000365473:V57I	V	+	1	0	MUC21	31062100	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.398000	0.07259	-0.650000	0.05423	-0.436000	0.05848	GTC		0.567	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		9	166	0	0	0	1	0	9	166					A	30954121	G	A	30954121	3	1	32	1	0	0	0	0	1	0	0	0	9977	1261	44	3	175	3	MUC21	6	30954121	Missense_Mutation	SNP	G	TCGA-QR-A707-01A-11D-A35D-08	3534274	30954121	140160946	8	605										
LACE1	246269	broad.mit.edu	37	chr6	108840904	108840904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	ttttcttctatttcaggtgcGtataatttgctctgcgtcga	8	8	4	0	rs141756676	byFrequency	TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr6:108840904G>A	ENST00000368977.4	+	12	1394	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	403						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTTCAGGTGCGTATAATTTGC	0.353																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1207-1209)cGt>cAt		lactation elevated 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	141	134	137		1208	5.8	1	6	dbSNP_134	137	5,8595	3.7+/-12.6	0,5,4295	yes	missense	LACE1	NM_145315.3	29	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	403/482	108840904	6,13000	2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108840904G>A	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1208G>A	6.37:g.108840904G>A	ENSP00000357973:p.Arg403His						p.R403H	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	12	1394	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	403					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.1208G>A	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.768032|3.768032	0.69878|0.69878	2.27E-4|2.27E-4	5.81E-4|5.81E-4	ENSG00000135537|ENSG00000135537	ENST00000368977|ENST00000421954	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83105|0.83105	0.5182|0.5182	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.84565|0.84565	0.0652|0.0652	9|5	0.87932|.	D|.	0|.	-7.3946|-7.3946	19.6956|19.6956	0.96023|0.96023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	403|.	Q8WV93|.	LACE1_HUMAN|.	H|I	403|271	.|.	ENSP00000357973:R403H|.	R|V	+|+	2|1	0|0	LACE1|LACE1	108947597|108947597	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.180000|0.180000	0.23129|0.23129	8.206000|8.206000	0.89745|0.89745	2.757000|2.757000	0.94681|0.94681	0.561000|0.561000	0.74099|0.74099	CGT|GTA		0.353	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		20	52	0	0	0	1	0	20	52					A	108840904	G	A	108840904	3	1	32	1	0	0	0	0	1	0	0	0	8595	1145	40	1	1254	1	LACE1	6	108840904	Missense_Mutation	SNP	G	TCGA-QR-A707-01A-11D-A35D-08	77886783	108840904	62274163	9	606										
LIPJ	142910	broad.mit.edu	37	chr10	90365406	90365406	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	tcagcttttaaattctactcAtttgaaagcttatgactggg	7	7	3	2			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr10:90365406A>T	ENST00000371939.3	+	10	1126	c.812A>T	c.(811-813)cAt>cTt	p.H271L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	271					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		AATTCTACTCATTTGAAAGCT	0.338																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(811-813)cAt>cTt		lipase, family member J							91	92	91					10																	90365406		2203	4300	6503	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90365406A>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.812A>T	10.37:g.90365406A>T	ENSP00000361007:p.His271Leu						p.H271L	NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	10	1126	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	271					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.812A>T	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	A	7.165	0.586462	0.13749	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.70164	0.18;-0.46	3.69	1.2	0.21068	Alpha/beta hydrolase fold-1 (1);	1.354340	0.04888	N	0.448900	T	0.58807	0.2148	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39722	-0.9600	10	0.42905	T	0.14	-6.4428	4.24	0.10643	0.7176:0.0:0.1051:0.1773	.	271	Q5W064	LIPJ_HUMAN	L	271;86	ENSP00000361007:H271L;ENSP00000434211:H86L	ENSP00000361007:H271L	H	+	2	0	LIPJ	90355386	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	1.488000	0.35551	0.112000	0.17975	-0.350000	0.07774	CAT		0.338	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		4	80	0	0	0	1	0	4	80					T	90365406	A	T	90365406	3	4	32	1	0	0	0	0	1	0	0	0	8826	217	8	5	842	5	LIPJ	10	90365406	Missense_Mutation	SNP	A	TCGA-QR-A707-01A-11D-A35D-08		90365406	45169341	10	607										
ZZEF1	23140	broad.mit.edu	37	chr17	3981268	3981268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	gatagcaggctgccttggacGgaccagaacagggagaagag	16	8	0	3			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:3981268G>A	ENST00000381638.2	-	19	3022	c.2898C>T	c.(2896-2898)tcC>tcT	p.S966S	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	966							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCTTGGACGGACCAGAACA	0.547																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(2896-2898)tcC>tcT		zinc finger, ZZ-type with EF-hand domain 1							81	74	77					17																	3981268		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3981268G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2898C>T	17.37:g.3981268G>A						ZZEF1_ENST00000574474.1_5'UTR	p.S966S	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			19	3022	-			966					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.2898C>T	CCDS11043.1																																																																																				0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		3	45	0	0	0	1	0	3	45					A	3981268	G	A	3981268	2	1	32	1	0	0	0	0	0	0	0	1	18252	1103	39	2		2	ZZEF1	17	3981268	Silent	SNP	G	TCGA-QR-A707-01A-11D-A35D-08		3981268	77213942	11	608										
SLC13A5	284111	broad.mit.edu	37	chr17	6589585	6589585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	atgatccaagtcaaatatggCccgtccccaggtgttgacag	10	11	1	2			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr17:6589585C>T	ENST00000433363.2	-	12	1881	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	550					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCAAATATGGCCCGTCCCCAG	0.473																																						ENST00000433363.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.(1648-1650)Gcc>Acc		solute carrier family 13 (sodium-dependent citrate transporter), member 5							178	159	165					17																	6589585		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6589585C>T	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"Solute carriers"	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1648G>A	17.37:g.6589585C>T	ENSP00000406220:p.Ala550Thr					SLC13A5_ENST00000381074.4_Missense_Mutation_p.A507T|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A533T|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A504T	p.A550T	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN			12	1881	-			550					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.1648G>A	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365448	0.24684	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T	0.02944	4.1	5.2	1.93	0.25924	.	0.545495	0.20825	N	0.084988	T	0.02767	0.0083	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.15473	0.006;0.01;0.006;0.013	B;B;B;B	0.19666	0.007;0.015;0.026;0.026	T	0.45381	-0.9265	10	0.15066	T	0.55	.	2.9295	0.05795	0.1424:0.5482:0.1392:0.1702	.	504;507;533;550	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	T	550;504;507	ENSP00000370464:A507T	ENSP00000293800:A550T	A	-	1	0	SLC13A5	6530309	0.001000	0.12720	0.560000	0.28344	0.944000	0.59088	0.636000	0.24644	0.698000	0.31739	-0.140000	0.14226	GCC		0.473	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		3	48	0	0	0	1	0	3	48					T	6589585	C	T	6589585	3	4	32	1	0	0	0	0	1	0	0	0	14395	739	26	3	62	3	SLC13A5	17	6589585	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08	2608317	6589585	74605625	12	609										
HIC2	23119	broad.mit.edu	37	chr22	21800664	21800664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	aggccgaggacctgtcagcaCccagtgcggcctacacggct	13	15	1	0			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chr22:21800664C>T	ENST00000443632.2	+	2	1852	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	HIC2_ENST00000407464.2_Missense_Mutation_p.P494S|HIC2_ENST00000407598.2_Missense_Mutation_p.P494S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	494					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CCTGTCAGCACCCAGTGCGGC	0.642																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1480-1482)Ccc>Tcc		hypermethylated in cancer 2							38	38	38					22																	21800664		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800664C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1480C>T	22.37:g.21800664C>T	ENSP00000387757:p.Pro494Ser					HIC2_ENST00000407464.2_Missense_Mutation_p.P494S|HIC2_ENST00000407598.2_Missense_Mutation_p.P494S	p.P494S			Q96JB3	HIC2_HUMAN			2	1852	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	494					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1480C>T	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.520695	0.00967	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.11930	2.73;2.73;2.73	4.39	4.39	0.52855	.	0.127163	0.53938	D	0.000047	T	0.11623	0.0283	L	0.29908	0.895	0.47905	D	0.999548	B	0.29862	0.259	B	0.29524	0.103	T	0.11372	-1.0590	10	0.40728	T	0.16	.	14.4823	0.67592	0.0:1.0:0.0:0.0	.	494	Q96JB3	HIC2_HUMAN	S	494	ENSP00000385319:P494S;ENSP00000384889:P494S;ENSP00000387757:P494S	ENSP00000385319:P494S	P	+	1	0	HIC2	20130664	0.966000	0.33281	0.547000	0.28179	0.054000	0.15201	2.478000	0.45189	2.282000	0.76494	0.563000	0.77884	CCC		0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			20	24	0	0	0	1	0	20	24					T	21800664	C	T	21800664	3	4	32	1	0	0	0	0	1	0	0	0	7102	507	18	3	1486	3	HIC2	22	21800664	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08		21800664	29503902	13	610										
NXF3	56000	broad.mit.edu	37	chrX	102339403	102339403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	aactgcctttccgattatagGgtgaaatagtatagggagtg	12	5	0	1			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chrX:102339403G>A	ENST00000395065.3	-	3	319	c.218C>T	c.(217-219)cCc>cTc	p.P73L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	73					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGATTATAGGGTGAAATAGT	0.438																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(217-219)cCc>cTc		nuclear RNA export factor 3							157	129	139					X																	102339403		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339403G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.218C>T	X.37:g.102339403G>A	ENSP00000378504:p.Pro73Leu					NXF3_ENST00000425463.2_5'UTR|NXF3_ENST00000425644.1_5'UTR	p.P73L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			3	319	-			73					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.218C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	4.311	0.057109	0.08339	.	.	ENSG00000147206	ENST00000395065	T	0.44083	0.93	3.94	0.0526	0.14303	.	1.178530	0.05871	N	0.624605	T	0.24812	0.0602	L	0.43152	1.355	0.09310	N	0.999999	P;B	0.40970	0.734;0.048	B;B	0.32533	0.147;0.009	T	0.11891	-1.0569	10	0.11182	T	0.66	5.279	1.6649	0.02799	0.1131:0.1779:0.3394:0.3696	.	73;73	B4DYI1;Q9H4D5	.;NXF3_HUMAN	L	73	ENSP00000378504:P73L	ENSP00000378504:P73L	P	-	2	0	NXF3	102226059	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.208000	0.01229	-0.118000	0.11851	0.544000	0.68410	CCC		0.438	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		12	98	0	0	0	1	0	12	98					A	102339403	G	A	102339403	3	1	32	1	0	0	0	0	1	0	0	0	10785	1232	43	3	1445	3	NXF3	23	102339403	Missense_Mutation	SNP	G	TCGA-QR-A707-01A-11D-A35D-08		102339403	52931157	14	611										
PLXNA3	55558	broad.mit.edu	37	chrX	153695647	153695647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	0.723456790123457	6.51111111111111	0	1	1	0	ttcttgggcggccccagcctCgggcgcaaggcgagcaccct	14	16	1	0			TCGA-QR-A707-01A-11D-A35D-08	TCGA-QR-A707-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1451182a-ba33-4966-aad0-066d77006065	682d0a33-6110-4bc9-94c6-a233330fbbc9	g.chrX:153695647C>T	ENST00000369682.3	+	19	3449	c.3274C>T	c.(3274-3276)Cgg>Tgg	p.R1092W		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCAGCCTCGGGCGCAAGG	0.617																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3274-3276)Cgg>Tgg		plexin A3							49	49	49					X																	153695647		2201	4299	6500	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695647C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3274C>T	X.37:g.153695647C>T	ENSP00000358696:p.Arg1092Trp						p.R1092W	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			19	3449	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1092			IPT/TIG 3.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3274C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051044	0.55218	.	.	ENSG00000130827	ENST00000369682	T	0.01025	5.43	5.67	2.8	0.32819	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.292311	0.20047	U	0.100399	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	P	0.44816	0.844	P	0.51453	0.67	T	0.50346	-0.8839	10	0.56958	D	0.05	.	13.1185	0.59313	0.4135:0.5865:0.0:0.0	.	1092	P51805	PLXA3_HUMAN	W	1092	ENSP00000358696:R1092W	ENSP00000358696:R1092W	R	+	1	2	PLXNA3	153348841	0.001000	0.12720	0.010000	0.14722	0.791000	0.44710	1.663000	0.37429	0.139000	0.18822	0.529000	0.55759	CGG		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		33	41	0	0	0	1	0	33	41					T	153695647	C	T	153695647	3	4	32	1	0	0	0	0	1	0	0	0	12121	875	31	2	3344	2	PLXNA3	23	153695647	Missense_Mutation	SNP	C	TCGA-QR-A707-01A-11D-A35D-08	51356244	153695647	1574913	15	612										
ZC3H12A	80149	broad.mit.edu	37	chr1	37948042	37948042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	gcaccctctgcaggtttatgCcccctgatgacccactgggc	10	16	1	2			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:37948042C>T	ENST00000373087.6	+	5	942	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGGTTTATGCCCCCTGATGA	0.592																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(826-828)Ccc>Tcc		zinc finger CCCH-type containing 12A							80	92	88					1																	37948042		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948042C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.826C>T	1.37:g.37948042C>T	ENSP00000362179:p.Pro276Ser						p.P276S	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			5	942	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	276						Missense_Mutation	SNP	ENST00000373087.6	37	c.826C>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146008	0.77888	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.44083	0.93	5.05	5.05	0.67936	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81446	-0.0929	10	0.87932	D	0	-25.2062	18.7673	0.91878	0.0:1.0:0.0:0.0	.	276	Q5D1E8	ZC12A_HUMAN	S	276	ENSP00000362179:P276S	ENSP00000362174:P276S	P	+	1	0	ZC3H12A	37720629	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	7.729000	0.84864	2.477000	0.83638	0.563000	0.77884	CCC		0.592	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		4	106	0	0	0	1	0	4	106					T	37948042	C	T	37948042	3	4	33	1	0	0	0	0	1	0	0	0	17558	739	26	3	840	3	ZC3H12A	1	37948042	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		37948042	211302579	1	613										
OR6Y1	391112	broad.mit.edu	37	chr1	158517139	158517139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	catggaatagaagagaattaCgacggtcaggtgggaggcac	15	6	1	2			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:158517139C>T	ENST00000302617.3	-	1	756	c.757G>A	c.(757-759)Gta>Ata	p.V253I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGAATTACGACGGTCAGG	0.507																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(757-759)Gta>Ata		olfactory receptor, family 6, subfamily Y, member 1							182	175	178					1																	158517139		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517139C>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.757G>A	1.37:g.158517139C>T	ENSP00000304807:p.Val253Ile						p.V253I	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	756	-	all_hematologic(112;0.0378)		253					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.757G>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296578	0.60086	.	.	ENSG00000197532	ENST00000302617	T	0.00340	8.04	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001850	T	0.00412	0.0013	M	0.78344	2.41	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48969	-0.8987	10	0.62326	D	0.03	.	13.5049	0.61479	0.1568:0.8431:0.0:0.0	.	253	Q8NGX8	OR6Y1_HUMAN	I	253	ENSP00000304807:V253I	ENSP00000304807:V253I	V	-	1	0	OR6Y1	156783763	0.544000	0.26441	0.885000	0.34714	0.927000	0.56198	1.332000	0.33805	2.763000	0.94921	0.655000	0.94253	GTA		0.507	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		8	61	0	0	0	1	0	8	61					T	158517139	C	T	158517139	3	4	33	1	0	0	0	0	1	0	0	0	11213	536	19	1	222	1	OR6Y1	1	158517139	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	120569097	158517139	90733482	2	614										
IL19	29949	broad.mit.edu	37	chr1	207014409	207014409	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	atgccaccagagtcatccatGacaactatgatcaggtaaga	8	10	2	4			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr1:207014409G>A	ENST00000270218.6	+	6	1363	c.424G>A	c.(424-426)Gac>Aac	p.D142N	IL19_ENST00000340758.2_Missense_Mutation_p.D180N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	142					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTCATCCATGACAACTATGA	0.512																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(424-426)Gac>Aac		interleukin 19							119	91	100					1																	207014409		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207014409G>A	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.424G>A	1.37:g.207014409G>A	ENSP00000270218:p.Asp142Asn					IL19_ENST00000340758.2_Missense_Mutation_p.D180N	p.D142N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	1363	+			142					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	c.424G>A	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	G	6.861	0.528254	0.13127	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.16743	2.32;2.32	5.71	-1.02	0.10135	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.361790	0.04145	N	0.320234	T	0.16727	0.0402	L	0.57536	1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.40327	-0.9569	10	0.07813	T	0.8	.	9.4711	0.38842	0.6398:0.0:0.3602:0.0	.	142;180	Q9UHD0;Q5VUT3	IL19_HUMAN;.	N	180;142	ENSP00000343000:D180N;ENSP00000270218:D142N	ENSP00000270218:D142N	D	+	1	0	IL19	205081032	0.004000	0.15560	0.046000	0.18839	0.160000	0.22226	0.077000	0.14738	-0.090000	0.12462	0.591000	0.81541	GAC		0.512	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		10	29	0	0	0	1	0	10	29					A	207014409	G	A	207014409	3	1	33	1	0	0	0	0	1	0	0	0	7649	1290	45	3	556	3	IL19	1	207014409	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	48497270	207014409	42236212	3	615										
PPIG	9360	broad.mit.edu	37	chr2	170492941	170492945	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-													0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	aggagtgagttgaatgaaatAaaagaaaatcagagaagtcc							TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:170492941_170492945delAAAAG	ENST00000260970.3	+	14	1393_1397	c.1173_1177delAAAAG	c.(1171-1179)ataaaagaafs	p.KE392fs	PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Frame_Shift_Del_p.KE392fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.KE377fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	392					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TGAATGAAATAAAAGAAAATCAGAG	0.288																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1171-1179)ataafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170492941_170492945delAAAAG	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1173_1177delAAAAG	2.37:g.170492941_170492945delAAAAG	ENSP00000260970:p.Lys392fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.IKE391fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.IKE376fs|PPIG_ENST00000482772.1_3'UTR	p.IKE391fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1393_1397	+			391					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.1173_1177delAAAAG	CCDS2235.1																																																																																				0.288	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			24	63						24	63	---	---	---	---	-	170492945	AAAAG	-	170492941	7	5	33	1	0	1	0	1	0	0	0	0	12324	352	13	0	1219	0	PPIG	2	170492941	Frame_Shift_Del	DEL	AAAAG	TCGA-QR-A708-01A-11D-A35D-08		170492941	72706432	4	616										
TTN	7273	broad.mit.edu	37	chr2	179469737	179469737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	atacttcaacgtgaacatttCggaacactgagccaaggcga	9	10	1	2	rs376932266		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr2:179469737C>T	ENST00000591111.1	-	230	49468	c.49244G>A	c.(49243-49245)cGa>cAa	p.R16415Q	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18056Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16415	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAACATTTCGGAACACTGA	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54166-54168)cGa>cAa		titin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3884		0,0,1942	259	241	247		26972,46463,27347,27548	5.1	1	2		247	1,8263		0,1,4131	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,6073	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	8991/26927,15488/33424,9116/27052,9183/27119	179469737	1,12147	1942	4132	6074	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469737C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49244G>A	2.37:g.179469737C>T	ENSP00000465570:p.Arg16415Gln					TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16415Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.R18056Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		280	54391	-			16415			Fibronectin type-III 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54167G>A		.	.	.	.	.	.	.	.	.	.	C	14.53	2.563247	0.45694	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.95	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.31476	0.935	0.44652	D	0.997631	P;P;P;P	0.46142	0.873;0.873;0.873;0.774	B;B;B;B	0.35655	0.207;0.207;0.207;0.207	T	0.60959	-0.7159	9	0.87932	D	0	.	15.0246	0.71659	0.0:0.9319:0.0:0.0681	.	8991;9116;9183;16415	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15488;8991;9183;9116;8991	ENSP00000343764:R15488Q;ENSP00000434586:R8991Q;ENSP00000340554:R9183Q;ENSP00000352154:R9116Q	ENSP00000340554:R9183Q	R	-	2	0	TTN	179177982	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.754000	0.55189	1.517000	0.48917	0.563000	0.77884	CGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		79	116	0	0	0	1	0	79	116					T	179469737	C	T	179469737	3	4	33	1	0	0	0	0	1	0	0	0	16732	884	31	2	53858	2	TTN	2	179469737	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	8976796	179469737	63729636	5	617										
LAMB2	3913	broad.mit.edu	37	chr3	49160646	49160646	+	Missense_Mutation	SNP	G	G	T													0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	cgctggttggccatgtgtttGctgttgaagtcctccttctg							TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:49160646G>T	ENST00000418109.1	-	27	4307	c.4143C>A	c.(4141-4143)agC>agA	p.S1381R	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1381	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATGTGTTTGCTGTTGAAGT	0.562																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4141-4143)agC>agA		laminin, beta 2 (laminin S)							196	161	173					3																	49160646		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160646G>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4143C>A	3.37:g.49160646G>T	ENSP00000388325:p.Ser1381Arg					LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R	p.S1381R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4307	-			1381			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4143C>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.474459	0.01044	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.33654	1.4;1.4	5.78	-1.18	0.09617	.	0.175337	0.49916	N	0.000136	T	0.04998	0.0134	N	0.00128	-2.045	0.22866	N	0.998637	B	0.02656	0.0	B	0.01281	0.0	T	0.40251	-0.9573	10	0.06099	T	0.92	.	4.1881	0.10407	0.1351:0.2855:0.4213:0.1582	.	1381	P55268	LAMB2_HUMAN	R	1381;1381;148	ENSP00000388325:S1381R;ENSP00000307156:S1381R	ENSP00000307156:S1381R	S	-	3	2	LAMB2	49135650	0.078000	0.21339	0.165000	0.22776	0.802000	0.45316	-0.627000	0.05521	-0.141000	0.11374	-0.182000	0.12963	AGC		0.562	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		38	25	1	0	1.38162e-09	1	1.60567e-09	38	25					T	49160646	G	T	49160646	3	4	33	1	0	0	0	0	1	0	0	0	8611	1310	46	5	1281	5	LAMB2	3	49160646	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		49160646	148861784	6	618	3	2								
LAMB2	3913	broad.mit.edu	37	chr3	49160648	49160648	+	Missense_Mutation	SNP	T	T	A													0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	ctggttggccatgtgtttgcTgttgaagtcctccttctgag							TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:49160648T>A	ENST00000418109.1	-	27	4305	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C|USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1381	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGTGTTTGCTGTTGAAGTCC	0.557																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4141-4143)Agc>Tgc		laminin, beta 2 (laminin S)							195	161	172					3																	49160648		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160648T>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4141A>T	3.37:g.49160648T>A	ENSP00000388325:p.Ser1381Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C	p.S1381C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4305	-			1381			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4141A>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327119	0.41197	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.36157	1.27;1.27	5.78	4.88	0.63580	.	0.175337	0.49916	D	0.000136	T	0.19805	0.0476	N	0.08118	0	0.27349	N	0.956301	P	0.36495	0.556	B	0.32393	0.145	T	0.11036	-1.0604	10	0.62326	D	0.03	.	13.3539	0.60617	0.0:0.0:0.6788:0.3212	.	1381	P55268	LAMB2_HUMAN	C	1381;1381;148	ENSP00000388325:S1381C;ENSP00000307156:S1381C	ENSP00000307156:S1381C	S	-	1	0	LAMB2	49135652	1.000000	0.71417	0.819000	0.32651	0.779000	0.44077	5.022000	0.64078	1.373000	0.46208	0.533000	0.62120	AGC		0.557	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		37	25	0	0	0	1	0	37	25					A	49160648	T	A	49160648	3	1	33	1	0	0	0	0	1	0	0	0	8611	1580	55	5	1283	5	LAMB2	3	49160648	Missense_Mutation	SNP	T	TCGA-QR-A708-01A-11D-A35D-08	2	49160648	148861782	7	619	3	2								
CGGBP1	8545	broad.mit.edu	37	chr3	88104673	88104673	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	ctcattctcatatccatcagGaagatatgccctccgtagct	6	13	3	1			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:88104673G>T	ENST00000398392.2	-	1	1786	c.454C>A	c.(454-456)Cct>Act	p.P152T	CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T|CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000474441.1_5'Flank			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	152					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		TATCCATCAGGAAGATATGCC	0.448																																						ENST00000398392.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(454-456)Cct>Act		CGG triplet repeat binding protein 1							133	126	128					3																	88104673		1950	4160	6110	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104673G>T	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.454C>A	3.37:g.88104673G>T	ENSP00000381429:p.Pro152Thr					CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T|CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T	p.P152T			Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	1	1786	-		Lung NSC(201;0.0283)	152					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.454C>A	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894465	0.52121	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.7	5.7	0.88788	.	0.000000	0.38959	U	0.001505	T	0.63177	0.2489	L	0.27053	0.805	0.45118	D	0.998133	D	0.69078	0.997	D	0.68483	0.958	T	0.56890	-0.7904	9	0.21540	T	0.41	-8.68	17.0533	0.86525	0.0:0.0:1.0:0.0	.	152	Q9UFW8	CGBP1_HUMAN	T	152	.	ENSP00000381428:P152T	P	-	1	0	CGGBP1	88187363	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.234000	0.72326	2.711000	0.92665	0.650000	0.86243	CCT		0.448	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390		7	72	1	0	5.18039e-06	1	5.71171e-06	7	72					T	88104673	G	T	88104673	3	4	33	1	0	0	0	0	1	0	0	0	3302	1174	41	5	53	5	CGGBP1	3	88104673	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	38944025	88104673	109917757	8	620										
PHLDB2	90102	broad.mit.edu	37	chr3	111603238	111603238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	aactgacaaaaatattcctaTgaaacctccaactcctttac	2	12	0	2			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:111603238T>C	ENST00000431670.2	+	2	725	c.314T>C	c.(313-315)aTg>aCg	p.M105T	PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	105						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATATTCCTATGAAACCTCCA	0.463																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(313-315)aTg>aCg		pleckstrin homology-like domain, family B, member 2							214	233	227					3																	111603238		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603238T>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.314T>C	3.37:g.111603238T>C	ENSP00000405405:p.Met105Thr					PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T	p.M105T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	725	+			105					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.314T>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.271473	0.00257	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.28895	1.59;1.61;1.6;1.6;1.61;1.6	5.77	0.68	0.17980	.	1.047270	0.07356	N	0.883269	T	0.11623	0.0283	N	0.08118	0	0.23144	N	0.998229	B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.32268	-0.9913	10	0.02654	T	1	.	3.5088	0.07700	0.1625:0.2881:0.0:0.5494	.	105;105;105;105;132	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	T	132;132;105;105;105;105;105;105;105	ENSP00000377500:M132T;ENSP00000405405:M105T;ENSP00000405292:M105T;ENSP00000418296:M105T;ENSP00000377502:M105T;ENSP00000418319:M105T	ENSP00000352764:M132T	M	+	2	0	PHLDB2	113085928	0.616000	0.27035	0.928000	0.36995	0.288000	0.27193	0.051000	0.14141	0.549000	0.28973	0.533000	0.62120	ATG		0.463	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		142	117	0	0	0	1	0	142	117					C	111603238	T	C	111603238	3	2	33	1	0	0	0	0	1	0	0	0	11852	1464	51	4	401	4	PHLDB2	3	111603238	Missense_Mutation	SNP	T	TCGA-QR-A708-01A-11D-A35D-08	23498565	111603238	86419192	9	621										
PRKCI	5584	broad.mit.edu	37	chr3	169993051	169993051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	ccttcaagtcatgagagtttGgatcaagttggtgaagaaaa	11	5	3	3			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr3:169993051G>A	ENST00000295797.4	+	8	986	c.681G>A	c.(679-681)ttG>ttA	p.L227L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	227	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	ATGAGAGTTTGGATCAAGTTG	0.289																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(679-681)ttG>ttA		protein kinase C, iota							135	149	144					3																	169993051		2203	4295	6498	SO:0001819	synonymous_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169993051G>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.681G>A	3.37:g.169993051G>A							p.L227L	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		8	986	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		227			Regulatory domain.		D3DNQ4|Q8WW06	Silent	SNP	ENST00000295797.4	37	c.681G>A	CCDS3212.2																																																																																				0.289	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		7	162	0	0	0	1	0	7	162					A	169993051	G	A	169993051	2	1	33	1	0	0	0	0	0	0	0	1	12514	1339	47	3		3	PRKCI	3	169993051	Silent	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	58389813	169993051	28029379	10	622										
VCP	7415	broad.mit.edu	37	chr9	35060506	35060506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	caaacttcaggaatttgtctGggtgctccacaggatactag	10	9	2	0			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr9:35060506G>A	ENST00000358901.6	-	13	2394	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	500					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAATTTGTCTGGGTGCTCCAC	0.453																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1498-1500)cCa>cTa		valosin containing protein							82	67	72					9																	35060506		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35060506G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1499C>T	9.37:g.35060506G>A	ENSP00000351777:p.Pro500Leu						p.P500L	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		13	2394	-			500					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1499C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835338	0.91117	.	.	ENSG00000165280	ENST00000358901	D	0.94723	-3.5	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99338	1.0911	10	0.87932	D	0	-29.4237	19.8449	0.96704	0.0:0.0:1.0:0.0	.	500	P55072	TERA_HUMAN	L	500	ENSP00000351777:P500L	ENSP00000351777:P500L	P	-	2	0	VCP	35050506	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.680000	0.91292	0.655000	0.94253	CCA		0.453	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		15	37	0	0	0	1	0	15	37					A	35060506	G	A	35060506	3	1	33	1	0	0	0	0	1	0	0	0	17137	1348	47	3	941	3	VCP	9	35060506	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		35060506	106152925	11	623										
OR9G4	283189	broad.mit.edu	37	chr11	56511186	56511186	+	Frame_Shift_Del	DEL	T	T	-													0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	atcggctgccactgggaatcTgctgagaaacccaacaagat							TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr11:56511186delT	ENST00000302957.3	-	1	101	c.102delA	c.(100-102)gcafs	p.A34fs		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACTGGGAATCTGCTGAGAAAC	0.433																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(100-102)gcfs		olfactory receptor, family 9, subfamily G, member 4							76	70	72					11																	56511186		2201	4296	6497	SO:0001589	frameshift_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511186delT	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"GPCR / Class A : Olfactory receptors"	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.102delA	11.37:g.56511186delT	ENSP00000307515:p.Ala34fs						p.A34fs	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	101	-			34					Q6IF62|Q96RA9	Frame_Shift_Del	DEL	ENST00000302957.3	37	c.102delA	CCDS31537.1																																																																																				0.433	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		7	64						7	64	---	---	---	---	-	56511186	T	-	56511186	7	5	33	1	0	1	0	1	0	0	0	0	11251	1567	55	0	884	0	OR9G4	11	56511186	Frame_Shift_Del	DEL	T	TCGA-QR-A708-01A-11D-A35D-08		56511186	78495330	12	624										
A2M	2	broad.mit.edu	37	chr12	9256869	9256869	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	aggtacccataacattggtgGtgttgatagagaactgtaca	11	6	0	2			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr12:9256869G>C	ENST00000318602.7	-	11	1539	c.1232C>G	c.(1231-1233)aCc>aGc	p.T411S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	411					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AACATTGGTGGTGTTGATAGA	0.403																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1231-1233)aCc>aGc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						150	148	148					12																	9256869		1932	4141	6073	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9256869G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1232C>G	12.37:g.9256869G>C	ENSP00000323929:p.Thr411Ser						p.T411S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			11	1539	-			411					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1232C>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485061	0.63962	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.35973	1.28	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.92219	3.285	0.33491	D	0.588744	D	0.89917	1.0	D	0.91635	0.999	T	0.81450	-0.0927	10	0.66056	D	0.02	.	15.2722	0.73712	0.0:0.0:1.0:0.0	.	411	P01023	A2MG_HUMAN	S	411;426	ENSP00000323929:T411S	ENSP00000323929:T411S	T	-	2	0	A2M	9148136	1.000000	0.71417	0.996000	0.52242	0.485000	0.33311	3.931000	0.56529	2.736000	0.93811	0.655000	0.94253	ACC		0.403	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	23	0	0	0	1	0	3	23					C	9256869	G	C	9256869	3	2	33	1	0	0	0	0	1	0	0	0	4	1261	44	5	3296	5	A2M	12	9256869	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		9256869	124595026	13	625										
FAM179B	23116	broad.mit.edu	37	chr14	45523651	45523651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	cagggtttgggggagataccAttagatactccttcagcaaa	11	8	1	2			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr14:45523651A>G	ENST00000361577.3	+	15	4513	c.4299A>G	c.(4297-4299)ccA>ccG	p.P1433P	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Silent_p.P1486P	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1433										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGGAGATACCATTAGATACTC	0.323																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4456-4458)ccA>ccG		family with sequence similarity 179, member B							84	81	82					14																	45523651		2203	4300	6503	SO:0001819	synonymous_variant	23116						binding	g.chr14:45523651A>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4299A>G	14.37:g.45523651A>G						FAM179B_ENST00000361577.3_Silent_p.P1433P|FAM179B_ENST00000382233.2_3'UTR	p.P1486P			Q9Y4F4	F179B_HUMAN			16	4641	+			1433					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.4458A>G	CCDS9681.1																																																																																				0.323	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		17	59	0	0	0	1	0	17	59					G	45523651	A	G	45523651	2	3	33	1	0	0	0	0	0	0	0	1	5506	204	8	4		4	FAM179B	14	45523651	Silent	SNP	A	TCGA-QR-A708-01A-11D-A35D-08		45523651	61825889	14	626										
NEDD4	4734	broad.mit.edu	37	chr15	56142797	56142797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	ggcctcccatttggtgcatgCcggacttcccagcctttagg	11	14	0	0			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr15:56142797C>T	ENST00000508342.1	-	10	2846	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	849	Mediates interaction with TNIK. {ECO:0000250}.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGGTGCATGCCGGACTTCCC	0.453																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2545-2547)cgG>cgA		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							175	186	182					15																	56142797		2193	4292	6485	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56142797C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2547G>A	15.37:g.56142797C>T						NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R	p.R849R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	10	2846	-			849			Mediates interaction with TNIK (By similarity).|WW 3.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.2547G>A		.	.	.	.	.	.	.	.	.	.	C	0.614	-0.823869	0.02755	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.45	-0.523	0.11924	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37596	-0.9699	4	.	.	.	.	5.4306	0.16450	0.0:0.3682:0.2525:0.3793	.	.	.	.	D	440	.	.	G	-	2	0	NEDD4	53930089	0.974000	0.33945	0.982000	0.44146	0.001000	0.01503	0.073000	0.14640	-0.121000	0.11787	-1.151000	0.01829	GGC		0.453	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	194	0	0	0	1	0	4	194					T	56142797	C	T	56142797	2	4	33	1	0	0	0	0	0	0	0	1	10310	726	26	3		3	NEDD4	15	56142797	Silent	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		56142797	46388595	15	627										
TELO2	9894	broad.mit.edu	37	chr16	1551468	1551468	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	ctgctggccttggcctccccCcagcctgcgggtgacggcgc	14	18	0	1	rs541069927		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr16:1551468C>G	ENST00000262319.6	+	10	1608	c.1329C>G	c.(1327-1329)ccC>ccG	p.P443P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	443					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGCCTCCCCCCAGCCTGCGG	0.701													c|||	1	0.000199681	0	0	5008	,	,		13681	0.001		0	False		,,,				2504	0					ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1327-1329)ccC>ccG		telomere maintenance 2							32	31	31					16																	1551468		2196	4298	6494	SO:0001819	synonymous_variant	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1551468C>G	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1329C>G	16.37:g.1551468C>G							p.P443P	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			10	1608	+		Hepatocellular(780;0.219)	443					D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	c.1329C>G	CCDS32363.1																																																																																				0.701	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		9	5	0	0	0	1	0	9	5					G	1551468	C	G	1551468	2	3	33	1	0	0	0	0	0	0	0	1	15754	610	22	5		5	TELO2	16	1551468	Silent	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		1551468	88803285	16	628										
AMAC1	146861	broad.mit.edu	37	chr17	33520580	33520580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	acacaactccaactcaggagGtcactgggcaacacgggggc	12	13	2	0			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:33520580G>A	ENST00000297307.5	-	1	832	c.747C>T	c.(745-747)gaC>gaT	p.D249D	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	249						integral component of membrane (GO:0016021)											AACTCAGGAGGTCACTGGGCA	0.642																																						ENST00000297307.5																			0											c.(745-747)gaC>gaT		solute carrier family 35, member G3							91	88	89					17																	33520580		2203	4298	6501	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520580G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.747C>T	17.37:g.33520580G>A							p.D249D	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	832	-			249					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.747C>T	CCDS11293.1																																																																																				0.642	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	100	0	0	0	1	0	4	100					A	33520580	G	A	33520580	2	1	33	1	0	0	0	0	0	0	0	1	559	1252	44	3		3	AMAC1	17	33520580	Silent	SNP	G	TCGA-QR-A708-01A-11D-A35D-08		33520580	47674630	17	629										
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334038	39334038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	gccactagagcaggttgggcGgcagcaggtggacacacagc	16	11	0	1	rs367648183		TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:39334038G>A	ENST00000377726.2	-	1	422	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	127	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGGTTGGGCGGCAGCAGGTG	0.582																																						ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(379-381)Cgc>Tgc		keratin associated protein 4-2		G	CYS/ARG	1,4397		0,1,2198	93	109	104		379	-1.9	0.1	17		104	0,8594		0,0,4297	no	missense	KRTAP4-2	NM_033062.3	180	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	127/137	39334038	1,12991	2199	4297	6496	SO:0001583	missense	85291					keratin filament		g.chr17:39334038G>A	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.379C>T	17.37:g.39334038G>A	ENSP00000366955:p.Arg127Cys						p.R127C	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	422	-		Breast(137;0.000496)	127			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.379C>T	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.799188	0.31777	2.27E-4	0.0	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.00637	6.05	4.12	-1.9	0.07665	.	0.672907	0.10691	U	0.645180	T	0.01124	0.0037	M	0.85373	2.75	0.35938	D	0.833009	B	0.12013	0.005	B	0.08055	0.003	T	0.25882	-1.0119	10	0.66056	D	0.02	.	4.3553	0.11176	0.4649:0.0:0.3806:0.1545	.	127	Q9BYR5	KRA42_HUMAN	C	127;244	ENSP00000366955:R127C	ENSP00000366955:R127C	R	-	1	0	KRTAP4-2	36587564	0.705000	0.27846	0.062000	0.19696	0.039000	0.13416	-0.873000	0.04214	-0.611000	0.05709	-0.362000	0.07510	CGC		0.582	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			40	89	0	0	0	1	0	40	89					A	39334038	G	A	39334038	3	1	33	1	0	0	0	0	1	0	0	0	8551	1116	39	2	35	2	KRTAP4-2	17	39334038	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	5813458	39334038	41861172	18	630										
OSBPL7	114881	broad.mit.edu	37	chr17	45894036	45894036	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	ccaggtagcgagacaggttgGgaacagagccatggagacga	16	8	0	3			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr17:45894036G>C	ENST00000007414.3	-	10	1012	c.821C>G	c.(820-822)cCc>cGc	p.P274R	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	274					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGACAGGTTGGGAACAGAGCC	0.652																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)cCc>cGc		oxysterol binding protein-like 7							46	48	47					17																	45894036		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45894036G>C	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.821C>G	17.37:g.45894036G>C	ENSP00000007414:p.Pro274Arg					OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R	p.P274R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			10	1012	-			274					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.821C>G	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790046	0.50102	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.19250	2.16;2.16	5.44	5.44	0.79542	.	0.719415	0.13525	N	0.381393	T	0.48021	0.1477	M	0.75615	2.305	0.52501	D	0.999956	D	0.76494	0.999	D	0.66716	0.946	T	0.35101	-0.9802	10	0.59425	D	0.04	-37.1624	16.5557	0.84484	0.0:0.0:1.0:0.0	.	274	Q9BZF2	OSBL7_HUMAN	R	274	ENSP00000007414:P274R;ENSP00000376295:P274R	ENSP00000007414:P274R	P	-	2	0	OSBPL7	43249035	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.386000	0.79775	2.732000	0.93576	0.655000	0.94253	CCC		0.652	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		4	31	0	0	0	1	0	4	31					C	45894036	G	C	45894036	3	2	33	1	0	0	0	0	1	0	0	0	11282	1232	43	5	1763	5	OSBPL7	17	45894036	Missense_Mutation	SNP	G	TCGA-QR-A708-01A-11D-A35D-08	6559998	45894036	35301174	19	631										
SLC25A23	79085	broad.mit.edu	37	chr19	6454709	6454709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	actcgtccggcactgtcaggCactcgccaatgtccaggacc	10	16	1	0			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr19:6454709C>A	ENST00000301454.4	-	5	609	c.503G>T	c.(502-504)tGc>tTc	p.C168F	SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F|SLC25A23_ENST00000414491.2_5'Flank	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	168					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CACTGTCAGGCACTCGCCAAT	0.582																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(502-504)tGc>tTc		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							55	49	51					19																	6454709		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454709C>A	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.503G>T	19.37:g.6454709C>A	ENSP00000301454:p.Cys168Phe					SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F	p.C168F	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			5	609	-			168					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.503G>T	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	7.837	0.721135	0.15372	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.76968	-1.04;-1.06;-0.91	5.79	3.64	0.41730	.	0.521572	0.23682	N	0.045604	T	0.61924	0.2386	N	0.25647	0.755	0.32996	D	0.525578	B	0.22414	0.069	B	0.14578	0.011	T	0.63594	-0.6602	10	0.62326	D	0.03	-32.7254	5.6294	0.17501	0.1451:0.6394:0.1401:0.0754	.	168	Q9BV35	SCMC3_HUMAN	F	215;168;168	ENSP00000264088:C215F;ENSP00000301454:C168F;ENSP00000334537:C168F	ENSP00000264088:C215F	C	-	2	0	SLC25A23	6405709	1.000000	0.71417	0.988000	0.46212	0.071000	0.16799	1.403000	0.34612	0.773000	0.33404	0.655000	0.94253	TGC		0.582	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		24	63	1	0	3.28513e-13	1	4.15472e-13	24	63					A	6454709	C	A	6454709	3	1	33	1	0	0	0	0	1	0	0	0	14486	710	25	5	927	5	SLC25A23	19	6454709	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		6454709	52674274	20	632										
ZNF99	7652	broad.mit.edu	37	chr19	22940079	22940079	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	aattgttaaaagctttgccaCattcttcacatttgtagggt	7	7	2	0			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr19:22940079C>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.C751F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGCTTTGCCACATTCTTCACA	0.343																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2251-2253)tGt>tTt		zinc finger protein 99							43	49	47					19																	22940079		2034	4211	6245	SO:0001628	intergenic_variant	7652							g.chr19:22940079C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940079C>A							p.C751F							6	2251	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2252G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.233784	0.39498	.	.	ENSG00000213973	ENST00000397104	D	0.85861	-2.04	1.14	1.14	0.20703	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94407	0.8201	H	0.98629	4.285	0.44918	D	0.997935	D	0.89917	1.0	D	0.85130	0.997	D	0.93266	0.6647	9	0.87932	D	0	.	9.1856	0.37168	0.0:1.0:0.0:0.0	.	751	A8MXY4	ZNF99_HUMAN	F	751	ENSP00000380293:C751F	ENSP00000380293:C751F	C	-	2	0	ZNF99	22731919	0.998000	0.40836	0.048000	0.18961	0.401000	0.30781	3.766000	0.55280	0.585000	0.29608	0.173000	0.16961	TGT		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		20	64	1	0	1.56452e-12	1	1.92213e-12	20	64					A	22940079	C	A	22940079	1	1	33	0	1	0	0	0	0	0	0	0	18201	478	17	5		5	ZNF99	19	22940079	IGR	SNP	C	TCGA-QR-A708-01A-11D-A35D-08	16485370	22940079	36188904	21	633										
CST5	1473	broad.mit.edu	37	chr20	23860252	23860252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0476190476190476	1	1	0.702898550724638	0	0.93719806763285	1	1	0	tagattgggccgaggcactcCcggccacggccaccatcaag	12	15	1	1			TCGA-QR-A708-01A-11D-A35D-08	TCGA-QR-A708-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d09ee8c7-192b-410e-b222-7e1f23d68105	0f893a84-c320-47b8-b18b-a9f7ae480221	g.chr20:23860252C>A	ENST00000304710.4	-	1	135	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	21					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CGAGGCACTCCCGGCCACGGC	0.597																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(61-63)gGg>gTg		cystatin D							80	74	76					20																	23860252		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860252C>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.62G>T	20.37:g.23860252C>A	ENSP00000307132:p.Gly21Val						p.G21V	NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN			1	135	-			21					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.62G>T	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.340512	0.01277	.	.	ENSG00000170367	ENST00000304710	T	0.09350	2.99	1.47	-2.94	0.05581	.	4.135600	0.00935	N	0.002768	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.17098	0.017	T	0.26780	-1.0093	10	0.16896	T	0.51	.	3.3279	0.07074	0.3816:0.2497:0.3687:0.0	.	21	P28325	CYTD_HUMAN	V	21	ENSP00000307132:G21V	ENSP00000307132:G21V	G	-	2	0	CST5	23808252	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.260000	0.02858	-1.131000	0.02910	-0.573000	0.04149	GGG		0.597	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		29	59	1	0	4.59853e-10	1	5.49269e-10	29	59					A	23860252	C	A	23860252	3	1	33	1	0	0	0	0	1	0	0	0	3975	623	22	5	378	5	CST5	20	23860252	Missense_Mutation	SNP	C	TCGA-QR-A708-01A-11D-A35D-08		23860252	39165268	22	634										
AADACL4	343066	broad.mit.edu	37	chr1	12726517	12726517	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	cctgatagcagatgatgaggTcatcgctcagcttcctgagg	12	10	2	5			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr1:12726517T>A	ENST00000376221.1	+	4	995	c.995T>A	c.(994-996)gTc>gAc	p.V332D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	332						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATGATGAGGTCATCGCTCAG	0.507																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(994-996)gTc>gAc		arylacetamide deacetylase-like 4							106	104	105					1																	12726517		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726517T>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.995T>A	1.37:g.12726517T>A	ENSP00000365395:p.Val332Asp						p.V332D	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	995	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	332						Missense_Mutation	SNP	ENST00000376221.1	37	c.995T>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675171	0.47781	.	.	ENSG00000204518	ENST00000376221	T	0.61510	0.1	4.38	-7.75	0.01236	Alpha/beta hydrolase fold-3 (1);	0.949461	0.08793	N	0.892927	T	0.53077	0.1774	N	0.13235	0.315	0.19300	N	0.99998	D	0.57899	0.981	P	0.62885	0.908	T	0.55711	-0.8098	10	0.17832	T	0.49	-4.2289	18.4468	0.90686	0.0:0.1024:0.0:0.8976	.	332	Q5VUY2	ADCL4_HUMAN	D	332	ENSP00000365395:V332D	ENSP00000365395:V332D	V	+	2	0	AADACL4	12649104	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.129000	0.10515	-1.774000	0.01288	-0.408000	0.06270	GTC		0.507	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		32	116	0	0	0	1	0	32	116					A	12726517	T	A	12726517	3	1	34	1	0	0	0	0	1	0	0	0	13	1667	58	5	1009	5	AADACL4	1	12726517	Missense_Mutation	SNP	T	TCGA-QR-A70A-01A-11D-A35D-08		12726517	236524104	1	635										
OR2L2	26246	broad.mit.edu	37	chr1	248202163	248202163	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	tgggtctatgagagcacagtGtttttgagcagcaccatctt	11	8	2	2			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr1:248202163G>A	ENST00000366479.2	+	1	690	c.594G>A	c.(592-594)gtG>gtA	p.V198V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGAGCACAGTGTTTTTGAGCA	0.478																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(592-594)gtG>gtA		olfactory receptor, family 2, subfamily L, member 2							310	267	281					1																	248202163		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202163G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.594G>A	1.37:g.248202163G>A						OR2L13_ENST00000366478.2_Intron	p.V198V	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	690	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		198					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.594G>A	CCDS31103.1																																																																																				0.478	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		4	131	0	0	0	1	0	4	131					A	248202163	G	A	248202163	2	1	34	1	0	0	0	0	0	0	0	1	11007	1364	48	3		3	OR2L2	1	248202163	Silent	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	235475646	248202163	1048458	2	636										
KCMF1	56888	broad.mit.edu	37	chr2	85276609	85276609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	gcagctagaacggcagcatgCccaggcagcacggcaacaac	12	14	0	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr2:85276609C>T	ENST00000409785.4	+	6	1081	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	241							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CGGCAGCATGCCCAGGCAGCA	0.552																																						ENST00000409785.3																			0				ovary(3)	3						c.(721-723)gCc>gTc		potassium channel modulatory factor 1							89	100	96					2																	85276609		2190	4287	6477	SO:0001583	missense	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85276609C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.722C>T	2.37:g.85276609C>T	ENSP00000386738:p.Ala241Val						p.A241V	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			6	1081	+			241					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.722C>T	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228303	0.58777	.	.	ENSG00000176407	ENST00000409785	T	0.42513	0.97	5.96	5.96	0.96718	Drought induced 19/ RING finger protein 114 (1);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.14661	0.345	0.80722	D	1	B	0.23442	0.085	B	0.28849	0.095	T	0.09729	-1.0661	10	0.07813	T	0.8	-10.879	17.9158	0.88950	0.0:1.0:0.0:0.0	.	241	Q9P0J7	KCMF1_HUMAN	V	241	ENSP00000386738:A241V	ENSP00000386738:A241V	A	+	2	0	KCMF1	85130120	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.442000	0.80503	2.832000	0.97577	0.655000	0.94253	GCC		0.552	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		5	60	0	0	0	1	0	5	60					T	85276609	C	T	85276609	3	4	34	1	0	0	0	0	1	0	0	0	8000	739	26	3	744	3	KCMF1	2	85276609	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		85276609	157922764	3	637										
GPR128	84873	broad.mit.edu	37	chr3	100413790	100413790	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	taggctactggaaacctctcCgagtactgaggaaatcacac	9	11	2	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr3:100413790C>G	ENST00000273352.3	+	16	2607	c.2339C>G	c.(2338-2340)cCg>cGg	p.P780R	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P485R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	780					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P780L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAAACCTCTCCGAGTACTGAG	0.443																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			1	Substitution - Missense(1)	p.P780L(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(2338-2340)cCg>cGg		G protein-coupled receptor 128							124	119	120					3																	100413790		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100413790C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2339C>G	3.37:g.100413790C>G	ENSP00000273352:p.Pro780Arg					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P485R	p.P780R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			16	2607	+			780					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.2339C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	c	0.719	-0.784364	0.02907	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.38401	1.14;1.51	5.2	-10.4	0.00318	.	16.475400	0.00166	N	0.000000	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26985	-1.0087	10	0.10377	T	0.69	.	1.1229	0.01728	0.3686:0.2922:0.1868:0.1524	.	485;780	E9PHI0;Q96K78	.;GP128_HUMAN	R	780;485	ENSP00000273352:P780R;ENSP00000419788:P485R	ENSP00000273352:P780R	P	+	2	0	GPR128	101896480	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.539000	0.00219	-2.785000	0.00359	-4.252000	0.00008	CCG		0.443	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			11	64	0	0	0	1	0	11	64					G	100413790	C	G	100413790	3	3	34	1	0	0	0	0	1	0	0	0	6641	652	23	5	2401	5	GPR128	3	100413790	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		100413790	97608640	4	638										
ANKHD1	54882	broad.mit.edu	37	chr5	139908666	139908666	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	gcaaacctatgtaccccatcTtcaactgcaaacagttgcag	6	13	2	0			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr5:139908666T>G	ENST00000360839.2	+	29	6289	c.6135T>G	c.(6133-6135)tcT>tcG	p.S2045S	ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Silent_p.S2045S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2045	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCCCATCTTCAACTGCAA	0.512																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6133-6135)tcT>tcG		ankyrin repeat and KH domain containing 1							102	108	106					5																	139908666		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139908666T>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6135T>G	5.37:g.139908666T>G						ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.S2045S|ANKHD1_ENST00000544120.1_Silent_p.S428S|ANKHD1_ENST00000360839.2_Silent_p.S2045S	p.S2045S	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6259	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.6135T>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	T	2.773	-0.255158	0.05829	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.06	2.61	0.31194	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29212	-1.0019	4	.	.	.	.	3.8237	0.08846	0.1292:0.0716:0.1348:0.6644	.	.	.	.	V	536;496	.	.	F	+	1	0	ANKHD1	139888850	0.998000	0.40836	1.000000	0.80357	0.852000	0.48524	0.462000	0.21956	0.387000	0.25024	0.533000	0.62120	TTC		0.512	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		19	32	0	0	0	1	0	19	32					G	139908666	T	G	139908666	2	3	34	1	0	0	0	0	0	0	0	1	628	1596	56	5		5	ANKHD1	5	139908666	Silent	SNP	T	TCGA-QR-A70A-01A-11D-A35D-08		139908666	41006594	5	639										
RNF8	9025	broad.mit.edu	37	chr6	37328329	37328329	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	aagcagaatcctgagggccaAtggacaattatggacaacaa	10	8	0	2	rs184803752	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr6:37328329A>G	ENST00000373479.4	+	2	412	c.219A>G	c.(217-219)caA>caG	p.Q73Q	RNF8_ENST00000479516.1_3'UTR|RN7SL273P_ENST00000481561.2_RNA|RNF8_ENST00000469731.1_Silent_p.Q73Q|RNF8_ENST00000394443.4_Silent_p.Q73Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	73	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTGAGGGCCAATGGACAATTA	0.368													A|||	2	0.000399361	0	0	5008	,	,		19529	0.002		0	False		,,,				2504	0					ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(217-219)caA>caG		ring finger protein 8, E3 ubiquitin protein ligase							108	100	103					6																	37328329		2203	4300	6503	SO:0001819	synonymous_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328329A>G	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.219A>G	6.37:g.37328329A>G						RNF8_ENST00000394443.4_Silent_p.Q73Q|RNF8_ENST00000469731.1_Silent_p.Q73Q|RNF8_ENST00000479516.1_3'UTR	p.Q73Q	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			2	412	+			73			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	ENST00000373479.4	37	c.219A>G	CCDS4834.1																																																																																				0.368	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			14	64	0	0	0	1	0	14	64					G	37328329	A	G	37328329	2	3	34	1	0	0	0	0	0	0	0	1	13500	98	4	4		4	RNF8	6	37328329	Silent	SNP	A	TCGA-QR-A70A-01A-11D-A35D-08		37328329	133786738	6	640										
COL12A1	1303	broad.mit.edu	37	chr6	75799877	75799877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	tgtgcccgggaagcctggccGccccccaggcccaggttctc	13	18	1	0			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr6:75799877G>A	ENST00000322507.8	-	63	9199	c.8890C>T	c.(8890-8892)Cgg>Tgg	p.R2964W	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2964	Collagen-like 4.|Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGCCTGGCCGCCCCCCAGGC	0.617																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8890-8892)Cgg>Tgg		collagen, type XII, alpha 1							91	101	98					6																	75799877		1838	4088	5926	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75799877G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8890C>T	6.37:g.75799877G>A	ENSP00000325146:p.Arg2964Trp					COL12A1_ENST00000416123.2_Missense_Mutation_p.R2888W|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.R1800W|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2960W	p.R2964W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			63	9199	-			2964			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8890C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460074	0.63401	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.48	4.53	0.55603	.	0.055900	0.64402	D	0.000002	D	0.92358	0.7575	L	0.49455	1.56	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.61397	0.821;0.888	D	0.86504	0.1805	10	0.66056	D	0.02	.	10.995	0.47571	0.0:0.0:0.5854:0.4146	.	1800;2964	Q99715-2;Q99715	.;COCA1_HUMAN	W	2964;602;2888;1800;2888;2960	ENSP00000325146:R2964W;ENSP00000399812:R602W;ENSP00000305147:R1800W;ENSP00000412864:R2888W;ENSP00000421216:R2960W	ENSP00000325146:R2964W	R	-	1	2	COL12A1	75856597	0.960000	0.32886	0.867000	0.34043	0.876000	0.50452	2.911000	0.48774	2.567000	0.86603	0.655000	0.94253	CGG		0.617	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		8	168	0	0	0	1	0	8	168					A	75799877	G	A	75799877	3	1	34	1	0	0	0	0	1	0	0	0	3669	1086	38	1	317	1	COL12A1	6	75799877	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	38471548	75799877	95315190	7	641										
KCNMA1	3778	broad.mit.edu	37	chr10	78943220	78943220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	acacagacacaaacacggggGgcaccgtgaagaaatccact	10	12	0	3			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr10:78943220G>A	ENST00000286628.8	-	5	766	c.767C>T	c.(766-768)cCc>cTc	p.P256L	KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	256					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AAACACGGGGGGCACCGTGAA	0.458																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(766-768)cCc>cTc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						96	85	89					10																	78943220		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78943220G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.767C>T	10.37:g.78943220G>A	ENSP00000286628:p.Pro256Leu					KCNMA1_ENST00000286628.8_Missense_Mutation_p.P256L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P256L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P256L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P256L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P256L	p.P256L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	1719	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		256					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.767C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.045683|5.045683	0.93685|0.93685	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|T	0.51817|0.51071	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69|0.72	5.92|5.92	5.92|5.92	0.95590|0.95590	Ion transport (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.40196|0.40196	0.1107|0.1107	N|N	0.03177|0.03177	-0.4|-0.4	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;0.998;0.999;0.998;0.999;0.998|.	T|T	0.53215|0.53215	-0.8470|-0.8470	10|8	0.87932|0.87932	D|D	0|0	-14.3615|-14.3615	20.3151|20.3151	0.98650|0.98650	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	256;256;256;256;256;256|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	L|S	256;193;191;230;193;256;256;230;256;256;256;38|207	ENSP00000361517:P256L;ENSP00000361485:P193L;ENSP00000361514:P191L;ENSP00000396608:P230L;ENSP00000361520:P256L;ENSP00000286627:P256L;ENSP00000385552:P256L;ENSP00000346321:P256L;ENSP00000385806:P256L|ENSP00000361480:P207S	ENSP00000286627:P256L|ENSP00000361480:P207S	P|P	-|-	2|1	0|0	KCNMA1|KCNMA1	78613226|78613226	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.824000|0.824000	0.46624|0.46624	9.756000|9.756000	0.98918|0.98918	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	CCC|CCC		0.458	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		3	56	0	0	0	1	0	3	56					A	78943220	G	A	78943220	3	1	34	1	0	0	0	0	1	0	0	0	8073	1232	43	3	3211	3	KCNMA1	10	78943220	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08		78943220	56591527	8	642										
FGFR2	2263	broad.mit.edu	37	chr10	123245036	123245036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	gatctcccacattaacacccCgaaggaccagctgcaacaaa	6	15	1	0			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr10:123245036C>T	ENST00000358487.5	-	16	2340	c.2068G>A	c.(2068-2070)Ggg>Agg	p.G690R	FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATTAACACCCCGAAGGACCAG	0.512		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(2068-2070)Ggg>Agg		fibroblast growth factor receptor 2	Palifermin(DB00039)						90	82	84					10																	123245036		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123245036C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2068G>A	10.37:g.123245036C>T	ENSP00000351276:p.Gly690Arg					FGFR2_ENST00000346997.2_Missense_Mutation_p.G688R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G601R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G578R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G688R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G691R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G602R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G573R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G574R|FGFR2_ENST00000369059.1_Missense_Mutation_p.G576R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G691R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G462R	p.G690R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	16	2340	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	690			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2068G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159076	0.94686	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68	5.17	5.17	0.71159	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.99806	4.795	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;0.999;0.999;1.0	D	0.96539	0.9399	10	0.87932	D	0	.	19.0288	0.92946	0.0:1.0:0.0:0.0	.	707;689;601;573;690;602;691;593	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	R	601;691;578;690;573;574;576;282;688;691;688;602;691;691;599	ENSP00000350166:G601R;ENSP00000358057:G578R;ENSP00000351276:G690R;ENSP00000348559:G573R;ENSP00000358056:G574R;ENSP00000358055:G576R;ENSP00000404219:G282R;ENSP00000263451:G688R;ENSP00000410294:G691R;ENSP00000309878:G688R;ENSP00000353262:G602R;ENSP00000358052:G691R;ENSP00000358054:G691R;ENSP00000337665:G599R	ENSP00000337665:G599R	G	-	1	0	FGFR2	123235026	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.690000	0.84178	2.544000	0.85801	0.655000	0.94253	GGG		0.512	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		8	55	0	0	0	1	0	8	55					T	123245036	C	T	123245036	3	4	34	1	0	0	0	0	1	0	0	0	5866	652	23	2	513	2	FGFR2	10	123245036	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08	44301816	123245036	12289711	9	643										
DTX4	23220	broad.mit.edu	37	chr11	58959666	58959666	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	ctggtagggaagctgtccagAtgcggccacgtctaccacat	12	12	1	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr11:58959666A>G	ENST00000227451.3	+	6	1421	c.1317A>G	c.(1315-1317)agA>agG	p.R439R	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.R333R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	439					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGCTGTCCAGATGCGGCCACG	0.592																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1315-1317)agA>agG		deltex homolog 4 (Drosophila)							121	120	120					11																	58959666		2035	4168	6203	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58959666A>G	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1317A>G	11.37:g.58959666A>G						DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.R333R	p.R439R	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			6	1421	+		all_epithelial(135;0.125)	439					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.1317A>G	CCDS44612.1																																																																																				0.592	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		23	120	0	0	0	1	0	23	120					G	58959666	A	G	58959666	2	3	34	1	0	0	0	0	0	0	0	1	4797	330	12	4		4	DTX4	11	58959666	Silent	SNP	A	TCGA-QR-A70A-01A-11D-A35D-08		58959666	76046850	10	644										
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	1	20	5	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		3	55	0	0	0	1	0	3	55					T	39735383	C	T	39735383	2	4	34	1	0	0	0	0	0	0	0	1	8288	680	24	3		3	KIF21A	12	39735383	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		39735383	94116512	11	645										
ABCC4	10257	broad.mit.edu	37	chr13	95818472	95818472	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	gaagattgttgagaccaaacCgaagactctgagaaggtacg	12	7	1	4			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr13:95818472C>T	ENST00000376887.4	-	15	2088	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	ABCC4_ENST00000536256.1_Silent_p.S583S|ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	658					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GAGACCAAACCGAAGACTCTG	0.453																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1972-1974)tcG>tcA		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						183	165	171					13																	95818472		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95818472C>T	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1974G>A	13.37:g.95818472C>T						ABCC4_ENST00000536256.1_Silent_p.S583S|ABCC4_ENST00000431522.1_Silent_p.S658S|ABCC4_ENST00000412704.1_Silent_p.S658S	p.S658S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			15	2088	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		658					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.1974G>A	CCDS9474.1																																																																																				0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		11	133	0	0	0	1	0	11	133					T	95818472	C	T	95818472	2	4	34	1	0	0	0	0	0	0	0	1	55	639	23	2		2	ABCC4	13	95818472	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		95818472	19351406	12	646										
TEP1	7011	broad.mit.edu	37	chr14	20837625	20837625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	ccctggagtttgggtttctgGagtgtttgcttttttctgcc	12	8	2	0			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr14:20837625G>A	ENST00000262715.5	-	53	7574	c.7534C>T	c.(7534-7536)Cca>Tca	p.P2512S	TEP1_ENST00000556935.1_Missense_Mutation_p.P2404S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2512					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGTTTCTGGAGTGTTTGCT	0.507																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(7534-7536)Cca>Tca		telomerase-associated protein 1							237	213	221					14																	20837625		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20837625G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.7534C>T	14.37:g.20837625G>A	ENSP00000262715:p.Pro2512Ser					TEP1_ENST00000556935.1_Missense_Mutation_p.P2404S	p.P2512S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	53	7574	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2512					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.7534C>T	CCDS9548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.884436|1.884436	0.33255|0.33255	.|.	.|.	ENSG00000129566|ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935|ENST00000553984	T;T|.	0.50277|.	0.75;0.8|.	4.15|4.15	3.25|3.25	0.37280|0.37280	.|.	1.175540|.	0.05955|.	N|.	0.639553|.	T|T	0.35307|0.35307	0.0927|0.0927	L|L	0.36672|0.36672	1.1|1.1	0.20703|0.20703	N|N	0.999869|0.999869	B;B;B|.	0.30851|.	0.297;0.297;0.197|.	B;B;B|.	0.28784|.	0.094;0.094;0.043|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.15499|.	T|.	0.54|.	-4.4877|-4.4877	7.8705|7.8705	0.29563|0.29563	0.1118:0.0:0.8882:0.0|0.1118:0.0:0.8882:0.0	.|.	2404;1855;2512|.	G3V5X7;G3V2A4;Q99973|.	.;.;TEP1_HUMAN|.	S|F	2512;2504;2404|168	ENSP00000262715:P2512S;ENSP00000452574:P2404S|.	ENSP00000262715:P2512S|.	P|S	-|-	1|2	0|0	TEP1|TEP1	19907465|19907465	0.108000|0.108000	0.22018|0.22018	0.013000|0.013000	0.15412|0.15412	0.024000|0.024000	0.10985|0.10985	1.050000|1.050000	0.30404|0.30404	1.321000|1.321000	0.45227|0.45227	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	102	0	0	0	1	0	4	102					A	20837625	G	A	20837625	3	1	34	1	0	0	0	0	1	0	0	0	15756	1174	41	3	361	3	TEP1	14	20837625	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08		20837625	86511915	13	647										
NYNRIN	57523	broad.mit.edu	37	chr14	24884876	24884876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	ttctctgacctgtccacgttCgtctgcatccacatgtcggg	9	14	2	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr14:24884876C>T	ENST00000382554.3	+	9	4239	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1307					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGTCCACGTTCGTCTGCATCC	0.622																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3919-3921)ttC>ttT		NYN domain and retroviral integrase containing							173	180	178					14																	24884876		2144	4246	6390	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884876C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3921C>T	14.37:g.24884876C>T							p.F1307F	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	4239	+			1307					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3921C>T	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	211	0	0	0	1	0	4	211					T	24884876	C	T	24884876	2	4	34	1	0	0	0	0	0	0	0	1	10796	883	31	2		2	NYNRIN	14	24884876	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08	4047251	24884876	82464664	14	648										
ARNT2	9915	broad.mit.edu	37	chr15	80767549	80767549	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	gagagcaactgtgcacctcaGaaaactcaatgacaggtcag	10	10	3	3			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr15:80767549G>A	ENST00000303329.4	+	5	772	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ARNT2_ENST00000533983.1_Missense_Mutation_p.E192K|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	203	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTGCACCTCAGAAAACTCAAT	0.507																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(574-576)Gaa>Aaa		aryl-hydrocarbon receptor nuclear translocator 2							79	79	79					15																	80767549		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80767549G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.607G>A	15.37:g.80767549G>A	ENSP00000307479:p.Glu203Lys					ARNT2_ENST00000303329.4_Missense_Mutation_p.E203K|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.E192K	p.E192K			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		6	913	+			203			PAS 1.		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.574G>A	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532256	0.85812	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.06933	3.24	4.37	4.37	0.52481	PAS (2);PAS fold (1);	0.232862	0.43747	D	0.000521	T	0.30103	0.0754	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.973	T	0.08576	-1.0715	10	0.87932	D	0	.	17.1224	0.86705	0.0:0.0:1.0:0.0	.	203;203	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	K	192;203;203	ENSP00000307479:E203K	ENSP00000307479:E203K	E	+	1	0	ARNT2	78554604	1.000000	0.71417	0.933000	0.37362	0.722000	0.41435	8.792000	0.91856	2.253000	0.74438	0.448000	0.29417	GAA		0.507	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			18	71	0	0	0	1	0	18	71					A	80767549	G	A	80767549	3	1	34	1	0	0	0	0	1	0	0	0	966	943	33	3	625	3	ARNT2	15	80767549	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08		80767549	21763843	15	649										
ADAM11	4185	broad.mit.edu	37	chr17	42854139	42854139	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	cctaacctgcacaagctggaCggttactactgtgaccatga	9	12	0	2			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr17:42854139C>T	ENST00000200557.6	+	19	1762	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	ADAM11_ENST00000535346.1_Silent_p.D331D	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	531	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACAAGCTGGACGGTTACTACT	0.607																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1591-1593)gaC>gaT		ADAM metallopeptidase domain 11							117	102	107					17																	42854139		2203	4300	6503	SO:0001819	synonymous_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42854139C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1593C>T	17.37:g.42854139C>T						ADAM11_ENST00000535346.1_Silent_p.D331D	p.D531D	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			19	1762	+		Prostate(33;0.0959)	531			Disintegrin.		Q14808|Q14809|Q14810	Silent	SNP	ENST00000200557.6	37	c.1593C>T	CCDS11486.1																																																																																				0.607	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		31	53	0	0	0	1	0	31	53					T	42854139	C	T	42854139	2	4	34	1	0	0	0	0	0	0	0	1	235	535	19	1		1	ADAM11	17	42854139	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		42854139	38341071	16	650										
ABHD8	79575	broad.mit.edu	37	chr19	17412054	17412054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	aagcggccatcgctgcccgcCggatctgccagctccacctc	10	19	1	0			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chr19:17412054C>T	ENST00000247706.3	-	2	611	c.372G>A	c.(370-372)ccG>ccA	p.P124P	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	124							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGCTGCCCGCCGGATCTGCCA	0.746																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(370-372)ccG>ccA		abhydrolase domain containing 8							9	10	9					19																	17412054		1912	3829	5741	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17412054C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.372G>A	19.37:g.17412054C>T						MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P124P	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	611	-			124					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.372G>A	CCDS12355.1																																																																																				0.746	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		3	29	0	0	0	1	0	3	29					T	17412054	C	T	17412054	2	4	34	1	0	0	0	0	0	0	0	1	87	639	23	2		2	ABHD8	19	17412054	Silent	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		17412054	41716929	17	651										
PQBP1	10084	broad.mit.edu	37	chrX	48759214	48759214	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	tgcggccccacagcgggctcCcttactactggaatgcagac	11	15	0	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:48759214C>A	ENST00000376563.1	+	4	387	c.187C>A	c.(187-189)Cct>Act	p.P63T	PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000218224.4_Missense_Mutation_p.P63T	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	63	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAGCGGGCTCCCTTACTACTG	0.547																																						ENST00000218224.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						c.(187-189)Cct>Act		polyglutamine binding protein 1							79	67	71					X																	48759214		2203	4300	6503	SO:0001583	missense	10084				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	g.chrX:48759214C>A	AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"Sutherland-Haan X-linked mental retardation syndrome", "mental retardation, X-linked 55", "mental retardation, X-linked 2 (non-dysmorphic)"	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.187C>A	X.37:g.48759214C>A	ENSP00000365747:p.Pro63Thr					PQBP1_ENST00000396763.1_Missense_Mutation_p.P63T|PQBP1_ENST00000247140.4_Missense_Mutation_p.P63T|PQBP1_ENST00000447146.2_Missense_Mutation_p.P63T|PQBP1_ENST00000376566.4_Missense_Mutation_p.P63T|PQBP1_ENST00000376563.1_Missense_Mutation_p.P63T|PQBP1_ENST00000473764.1_3'UTR	p.P63T	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN			3	441	+			63			WW.		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	ENST00000376563.1	37	c.187C>A	CCDS14309.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277501	0.40294	.	.	ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.24	5.24	0.73138	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;B;D;D	0.89917	0.997;1.0;0.999;1.0;1.0;0.42;1.0;1.0	D;D;D;D;D;B;D;D	0.91635	0.991;0.999;0.961;0.994;0.998;0.099;0.999;0.999	D	0.85483	0.1180	10	0.22706	T	0.39	-15.4909	14.5549	0.68094	0.0:1.0:0.0:0.0	.	63;63;63;63;63;63;63;63	O60828-5;O60828-6;O60828-2;C9JQA1;O60828-7;O60828-4;O60828-3;O60828	.;.;.;.;.;.;.;PQBP1_HUMAN	T	63	ENSP00000365747:P63T;ENSP00000365750:P63T;ENSP00000391759:P63T;ENSP00000247140:P63T;ENSP00000218224:P63T;ENSP00000379985:P63T;ENSP00000414861:P63T	ENSP00000218224:P63T	P	+	1	0	PQBP1	48644158	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.541000	0.73865	2.413000	0.81919	0.600000	0.82982	CCT		0.547	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060777.1	NM_001032381.1		5	82	1	0	1.23904e-05	1	1.27444e-05	5	82					A	48759214	C	A	48759214	3	1	34	1	0	0	0	0	1	0	0	0	12417	623	22	5	197	5	PQBP1	23	48759214	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08		48759214	106511346	18	652										
HUWE1	10075	broad.mit.edu	37	chrX	53570843	53570843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	ccgcgccctttgaccctcacGtaccatttgtataatggcat	7	14	1	1			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:53570843G>A	ENST00000342160.3	-	72	11795	c.11338C>T	c.(11338-11340)Cgt>Tgt	p.R3780C	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3780					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R3670C(1)|p.R3780C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCCTCACGTACCATTTGT	0.557																																						ENST00000342160.3																			2	Substitution - Missense(2)	p.R3670C(1)|p.R3780C(1)	endometrium(2)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11338-11340)Cgt>Tgt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							88	53	65					X																	53570843		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53570843G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11338C>T	X.37:g.53570843G>A	ENSP00000340648:p.Arg3780Cys					HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.R3780C	p.R3780C			Q7Z6Z7	HUWE1_HUMAN			72	11795	-			3780					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.11338C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.12|11.12	1.544374|1.544374	0.27563|0.27563	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.38240|.	1.15;1.15|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.160068|.	0.37761|.	N|.	0.001951|.	T|T	0.61426|0.61426	0.2346|0.2346	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.975;1.0|.	B;D|.	0.76575|.	0.165;0.988|.	T|T	0.59010|0.59010	-0.7534|-0.7534	10|5	0.56958|.	D|.	0.05|.	.|.	16.1273|16.1273	0.81404|0.81404	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3780;3764|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|M	3780|2813	ENSP00000340648:R3780C;ENSP00000262854:R3780C|.	ENSP00000262854:R3780C|.	R|T	-|-	1|2	0|0	HUWE1|HUWE1	53587568|53587568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.356000|6.356000	0.73046|0.73046	2.057000|2.057000	0.61298|0.61298	0.534000|0.534000	0.68092|0.68092	CGT|ACG		0.557	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		19	21	0	0	0	1	0	19	21					A	53570843	G	A	53570843	3	1	34	1	0	0	0	0	1	0	0	0	7461	1145	40	1	1834	1	HUWE1	23	53570843	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	4811629	53570843	101699717	19	653										
ATRX	546	broad.mit.edu	37	chrX	76931778	76931778	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	ctgtgacaggcactgatttaGataaggcttcatctccttga	9	9	2	4			TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:76931778G>C	ENST00000373344.5	-	10	3966	c.3752C>G	c.(3751-3753)tCt>tGt	p.S1251C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1251	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CACTGATTTAGATAAGGCTTC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3751-3753)tCt>tGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						125	100	108					X																	76931778		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76931778G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3752C>G	X.37:g.76931778G>C	ENSP00000362441:p.Ser1251Cys					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1213C	p.S1251C	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			10	3966	-			1251					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3752C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048180	0.36181	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93076	-3.16;-3.16	4.74	3.81	0.43845	.	0.527345	0.17702	N	0.164888	D	0.93621	0.7963	L	0.47716	1.5	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.985	P;P;P	0.56216	0.794;0.794;0.527	D	0.93606	0.6934	10	0.56958	D	0.05	-6.2841	13.9761	0.64275	0.0:0.0:0.8486:0.1514	.	1183;1213;1251	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	C	1251;1213;1178	ENSP00000362441:S1251C;ENSP00000378967:S1213C	ENSP00000362441:S1251C	S	-	2	0	ATRX	76818434	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.677000	0.54619	2.068000	0.61886	0.506000	0.49869	TCT		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	213	0	0	0	1	0	4	213					C	76931778	G	C	76931778	3	2	34	1	0	0	0	0	1	0	0	0	1208	942	33	5	3830	5	ATRX	23	76931778	Missense_Mutation	SNP	G	TCGA-QR-A70A-01A-11D-A35D-08	23360935	76931778	78338782	20	654										
SLITRK4	139065	broad.mit.edu	37	chrX	142717979	142717979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	0.977777777777778	3.66666666666667	0.564102564102564	1	1	0	ggagagggctttgcctgcaaCgattccagagatcttggaag	14	8	1	2	rs142699085	byFrequency	TCGA-QR-A70A-01A-11D-A35D-08	TCGA-QR-A70A-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4315499d-34e8-46ac-a2b1-16f433fd25ea	d36d3888-4c19-4c74-81b0-11f19e52550c	g.chrX:142717979C>A	ENST00000381779.4	-	2	1171	c.946G>T	c.(946-948)Gtt>Ttt	p.V316F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	316						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCAACGATTCCAGAG	0.473																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(946-948)Gtt>Ttt		SLIT and NTRK-like family, member 4		C	PHE/VAL,PHE/VAL,PHE/VAL	0,3835		0,0,0,1632,571	156	140	145		946,946,946	5.9	1	X	dbSNP_134	145	1,6727		0,0,1,2428,1871	no	missense,missense,missense	SLITRK4	NM_001184749.1,NM_001184750.1,NM_173078.3	50,50,50	0,0,1,4060,2442	AA,AC,A,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	316/838,316/838,316/838	142717979	1,10562	2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717979C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.946G>T	X.37:g.142717979C>A	ENSP00000371198:p.Val316Phe					SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316F	p.V316F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		316					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.946G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.405941	0.25378	0.0	1.49E-4	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.53857	0.6;0.6;0.6	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.45955	0.1368	L	0.29908	0.895	0.80722	D	1	B	0.33135	0.399	B	0.34346	0.18	T	0.45804	-0.9236	10	0.56958	D	0.05	-8.7004	17.551	0.87875	0.0:1.0:0.0:0.0	.	316	Q8IW52	SLIK4_HUMAN	F	316	ENSP00000371198:V316F;ENSP00000349400:V316F;ENSP00000336627:V316F	ENSP00000336627:V316F	V	-	1	0	SLITRK4	142545645	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	4.627000	0.61276	2.471000	0.83476	0.600000	0.82982	GTT		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		27	121	1	0	2.79863e-10	1	2.96326e-10	27	121					A	142717979	C	A	142717979	3	1	34	1	0	0	0	0	1	0	0	0	14745	536	19	5	1571	5	SLITRK4	23	142717979	Missense_Mutation	SNP	C	TCGA-QR-A70A-01A-11D-A35D-08	65786201	142717979	12552581	21	655										
LGR6	59352	broad.mit.edu	37	chr1	202287753	202287753	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	gactgcgccatggtgaggcaCgtggcctggctcatcttcgc	14	13	2	1	rs199692167		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr1:202287753C>G	ENST00000367278.3	+	18	2411	c.2322C>G	c.(2320-2322)caC>caG	p.H774Q	LGR6_ENST00000255432.7_Missense_Mutation_p.H722Q|LGR6_ENST00000439764.2_Missense_Mutation_p.H635Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	774					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGAGGCACGTGGCCTGGC	0.642																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2320-2322)caC>caG		leucine-rich repeat containing G protein-coupled receptor 6							100	79	86					1																	202287753		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287753C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2322C>G	1.37:g.202287753C>G	ENSP00000356247:p.His774Gln					LGR6_ENST00000439764.2_Missense_Mutation_p.H635Q|LGR6_ENST00000255432.7_Missense_Mutation_p.H722Q	p.H774Q	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2411	+			774					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2322C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875179	0.51695	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.39056	1.1;1.1;1.1	4.49	-0.877	0.10621	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	M	0.65975	2.015	0.36511	D	0.86956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.62656	-0.6808	10	0.72032	D	0.01	.	11.165	0.48537	0.0:0.4402:0.0:0.5598	.	635;722;774	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	Q	774;722;635	ENSP00000356247:H774Q;ENSP00000255432:H722Q;ENSP00000387869:H635Q	ENSP00000255432:H722Q	H	+	3	2	LGR6	200554376	0.186000	0.23225	0.965000	0.40720	0.983000	0.72400	-0.479000	0.06567	-0.228000	0.09869	-0.350000	0.07774	CAC		0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		3	35	0	0	0	1	0	3	35					G	202287753	C	G	202287753	3	3	35	1	0	0	0	0	1	0	0	0	8758	535	19	5	2539	5	LGR6	1	202287753	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		202287753	46962868	1	656										
OR2W3	343171	broad.mit.edu	37	chr1	248059477	248059477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	tcagcactgtggccatcgaaGgcaccgtctttgtcctggcg	12	13	2	0			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr1:248059477G>A	ENST00000360358.3	+	1	589	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	OR2W3_ENST00000537741.1_Missense_Mutation_p.G197S	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCATCGAAGGCACCGTCTT	0.597																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(589-591)Ggc>Agc		olfactory receptor, family 2, subfamily W, member 3							155	135	142					1																	248059477		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059477G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.589G>A	1.37:g.248059477G>A	ENSP00000353516:p.Gly197Ser					OR2W3_ENST00000360358.3_Missense_Mutation_p.G197S	p.G197S			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	846	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		197					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.589G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	3.184	-0.167196	0.06461	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00069	8.77;8.77	5.29	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.475764	0.20138	N	0.098430	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.16166	0.016	B	0.24006	0.05	T	0.06954	-1.0798	10	0.31617	T	0.26	.	5.3935	0.16257	0.2226:0.0:0.632:0.1454	.	197	Q7Z3T1	OR2W3_HUMAN	S	197	ENSP00000445853:G197S;ENSP00000353516:G197S	ENSP00000353516:G197S	G	+	1	0	OR2W3	246126100	0.002000	0.14202	0.160000	0.22671	0.021000	0.10359	0.510000	0.22723	1.477000	0.48234	0.609000	0.83330	GGC		0.597	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		6	106	0	0	0	1	0	6	106					A	248059477	G	A	248059477	3	1	35	1	0	0	0	0	1	0	0	0	11033	1000	35	3	591	3	OR2W3	1	248059477	Missense_Mutation	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08	45771724	248059477	1191144	2	657										
NFE2L2	4780	broad.mit.edu	37	chr2	178095651	178095651	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	atgctgaaaacttcgagataTaaggtgctgagttgtttttt	10	4	0	3	rs372010034		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr2:178095651T>C	ENST00000397062.3	-	5	2234	c.1680A>G	c.(1678-1680)ttA>ttG	p.L560L	NFE2L2_ENST00000446151.2_Silent_p.L537L|NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000397063.4_Silent_p.L544L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	560	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTCGAGATATAAGGTGCTGA	0.358			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"NSCLC, HNSCC"		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1678-1680)ttA>ttG		nuclear factor, erythroid 2-like 2		T	,,	0,3708		0,0,1854	206	186	192		1632,1611,1680	0.9	1	2		192	1,8183		0,1,4091	no	coding-synonymous,coding-synonymous,coding-synonymous	NFE2L2	NM_001145412.1,NM_001145413.1,NM_006164.3	,,	0,1,5945	CC,CT,TT		0.0122,0.0,0.0084	,,	544/590,537/583,560/606	178095651	1,11891	1854	4092	5946	SO:0001819	synonymous_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095651T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1680A>G	2.37:g.178095651T>C		HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Silent_p.L544L|NFE2L2_ENST00000446151.2_Silent_p.L537L|NFE2L2_ENST00000397063.4_Silent_p.L544L	p.L560L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2234	-			560					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	c.1680A>G	CCDS42782.1																																																																																				0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		6	103	0	0	0	1	0	6	103					C	178095651	T	C	178095651	2	2	35	1	0	0	0	0	0	0	0	1	10368	1403	49	4		4	NFE2L2	2	178095651	Silent	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08		178095651	65103722	3	658										
INPP1	3628	broad.mit.edu	37	chr2	191231466	191231466	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ttcaacagaggaggaaacagCagagcttcttagcaaagtcc	10	9	2	2			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr2:191231466C>G	ENST00000322522.4	+	4	767	c.311C>G	c.(310-312)gCa>gGa	p.A104G	INPP1_ENST00000392329.2_Missense_Mutation_p.A104G|INPP1_ENST00000541441.1_Missense_Mutation_p.A104G	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	104					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GAGGAAACAGCAGAGCTTCTT	0.448																																					Melanoma(130;184 1743 2185 19805 38428)	ENST00000392329.2																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11						c.(310-312)gCa>gGa		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						162	160	161					2																	191231466		2203	4300	6503	SO:0001583	missense	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191231466C>G		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.311C>G	2.37:g.191231466C>G	ENSP00000325423:p.Ala104Gly					INPP1_ENST00000322522.4_Missense_Mutation_p.A104G|INPP1_ENST00000541441.1_Missense_Mutation_p.A104G	p.A104G	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		5	1011	+			104						Missense_Mutation	SNP	ENST00000322522.4	37	c.311C>G	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047487	0.36085	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441;ENST00000431594;ENST00000444194;ENST00000458647;ENST00000423767;ENST00000409027	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.61	-2.27	0.06846	.	0.589442	0.18513	N	0.138997	T	0.22666	0.0547	L	0.49778	1.585	0.09310	N	1	B	0.17667	0.023	B	0.21360	0.034	T	0.25117	-1.0141	10	0.25106	T	0.35	-3.9546	9.05	0.36369	0.0:0.6077:0.2573:0.135	.	104	P49441	INPP_HUMAN	G	104	ENSP00000376142:A104G;ENSP00000325423:A104G;ENSP00000440650:A104G;ENSP00000409786:A104G;ENSP00000404732:A104G;ENSP00000392814:A104G;ENSP00000395424:A104G;ENSP00000387079:A104G	ENSP00000325423:A104G	A	+	2	0	INPP1	190939711	0.002000	0.14202	0.002000	0.10522	0.989000	0.77384	0.109000	0.15417	-0.351000	0.08249	-0.355000	0.07637	GCA		0.448	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			5	71	0	0	0	1	0	5	71					G	191231466	C	G	191231466	3	3	35	1	0	0	0	0	1	0	0	0	7751	710	25	5	321	5	INPP1	2	191231466	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	13135815	191231466	51967907	4	659										
ENAM	10117	broad.mit.edu	37	chr4	71500137	71500137	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	atggcatccacggaaatcctCagcacccaaacgtcataaca	6	14	2	0			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr4:71500137C>G	ENST00000396073.3	+	6	604	c.323C>G	c.(322-324)tCa>tGa	p.S108*		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	108					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CGGAAATCCTCAGCACCCAAA	0.522																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(322-324)tCa>tGa		enamelin							123	124	124					4																	71500137		2203	4296	6499	SO:0001587	stop_gained	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71500137C>G	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.323C>G	4.37:g.71500137C>G	ENSP00000379383:p.Ser108*						p.S108*	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		6	604	+			108					Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	ENST00000396073.3	37	c.323C>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847896	0.71603	.	.	ENSG00000132464	ENST00000396073	.	.	.	4.84	2.97	0.34412	.	0.958181	0.08564	N	0.927145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-0.7878	5.5419	0.17043	0.1954:0.7027:0.0:0.1019	.	.	.	.	X	108	.	ENSP00000379383:S108X	S	+	2	0	ENAM	71719001	0.005000	0.15991	0.250000	0.24296	0.058000	0.15608	1.455000	0.35190	1.184000	0.42957	-0.384000	0.06662	TCA		0.522	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		19	100	0	0	0	1	0	19	100					G	71500137	C	G	71500137	4	3	35	1	0	0	0	0	0	1	0	0	5112	838	29	5	341	5	ENAM	4	71500137	Nonsense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		71500137	119654139	5	660										
IL6ST	3572	broad.mit.edu	37	chr5	55259298	55259298	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	tactagacagttcctctgagTtgatcactgataaattatgt	7	7	2	4			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr5:55259298T>C	ENST00000381298.2	-	7	1007	c.695A>G	c.(694-696)aAc>aGc	p.N232S	IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000577363.1_5'Flank|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	232	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTCCTCTGAGTTGATCACTGA	0.294			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(694-696)aAc>aGc		interleukin 6 signal transducer (gp130, oncostatin M receptor)							97	100	99					5																	55259298		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55259298T>C	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.695A>G	5.37:g.55259298T>C	ENSP00000370698:p.Asn232Ser					IL6ST_ENST00000381287.4_Missense_Mutation_p.N232S|IL6ST_ENST00000381294.3_Missense_Mutation_p.N232S|IL6ST_ENST00000522633.2_Missense_Mutation_p.N232S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.N232S|IL6ST_ENST00000536319.1_Missense_Mutation_p.N232S|IL6ST_ENST00000502326.3_Missense_Mutation_p.N232S|IL6ST_ENST00000381293.2_Missense_Mutation_p.N66S	p.N232S	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			7	1007	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	232			Fibronectin type-III 2.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.695A>G	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	9.449	1.090049	0.20390	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000381293;ENST00000522633;ENST00000542298	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.91	3.57	0.40892	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.816425	0.11492	N	0.558609	T	0.32164	0.0820	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.24576	0.106;0.0;0.0;0.0	B;B;B;B	0.23574	0.047;0.0;0.0;0.001	T	0.12319	-1.0552	10	0.05436	T	0.98	.	5.8146	0.18486	0.0:0.1445:0.1417:0.7138	.	66;232;232;232	Q5FC05;Q5FC04;P40189-2;P40189	.;.;.;IL6RB_HUMAN	S	232;232;232;232;232;66;232;232	ENSP00000370698:N232S;ENSP00000338799:N232S;ENSP00000370694:N232S;ENSP00000370687:N232S;ENSP00000444456:N232S;ENSP00000370693:N66S;ENSP00000435399:N232S	ENSP00000338799:N232S	N	-	2	0	IL6ST	55295055	0.581000	0.26741	1.000000	0.80357	0.992000	0.81027	0.017000	0.13399	1.067000	0.40740	0.533000	0.62120	AAC		0.294	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		12	41	0	0	0	1	0	12	41					C	55259298	T	C	55259298	3	2	35	1	0	0	0	0	1	0	0	0	7703	1725	60	4	2105	4	IL6ST	5	55259298	Missense_Mutation	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08		55259298	125655962	6	661										
KLHL7	55975	broad.mit.edu	37	chr7	23213904	23213904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ttgtggagcaaatgaagagaCccttgaaacatgaaaaatga	10	5	0	5			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr7:23213904C>A	ENST00000339077.5	+	11	1991	c.1748C>A	c.(1747-1749)aCc>aAc	p.T583N	KLHL7_ENST00000322231.7_Missense_Mutation_p.T561N|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	583					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGAAGAGACCCTTGAAACA	0.408																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1681-1683)aCc>aAc		kelch-like family member 7							110	110	110					7																	23213904		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23213904C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1748C>A	7.37:g.23213904C>A	ENSP00000343273:p.Thr583Asn					KLHL7_ENST00000539124.1_Missense_Mutation_p.T507N|KLHL7_ENST00000409689.1_Missense_Mutation_p.T535N|KLHL7_ENST00000339077.4_Missense_Mutation_p.T583N|KLHL7_ENST00000545443.1_Missense_Mutation_p.T561N|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000542558.1_Missense_Mutation_p.T358N	p.T561N			Q8IXQ5	KLHL7_HUMAN			12	2172	+			583					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1682C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332027	0.60853	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.73363	-0.61;-0.61;-0.56;-0.74;-0.6;-0.61	5.05	5.05	0.67936	.	0.109676	0.64402	D	0.000005	T	0.68256	0.2981	N	0.08118	0	0.58432	D	0.999997	P;P;P	0.42039	0.659;0.659;0.769	B;B;P	0.49332	0.403;0.403;0.607	T	0.75382	-0.3337	10	0.66056	D	0.02	.	18.775	0.91908	0.0:1.0:0.0:0.0	.	358;583;561	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	N	424;561;583;507;358;535;561	ENSP00000322958:T561N;ENSP00000343273:T583N;ENSP00000441136:T507N;ENSP00000442367:T358N;ENSP00000386263:T535N;ENSP00000442366:T561N	ENSP00000322958:T561N	T	+	2	0	KLHL7	23180429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.565000	0.73974	2.506000	0.84524	0.655000	0.94253	ACC		0.408	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		20	35	1	0	1.28384e-07	1	1.38655e-07	20	35					A	23213904	C	A	23213904	3	1	35	1	0	0	0	0	1	0	0	0	8394	507	18	5	1853	5	KLHL7	7	23213904	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		23213904	135924759	7	662										
FAM75A6	389730	broad.mit.edu	37	chr9	43625500	43625500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	atgtagctcctgggaagcccGcatgttcccagtaggcatgc	12	12	0	0	rs542356915	byFrequency	TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr9:43625500G>A	ENST00000332857.6	-	4	3215	c.3187C>T	c.(3187-3189)Cgg>Tgg	p.R1063W	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1063					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGAAGCCCGCATGTTCCCA	0.557													G|||	5	0.000998403	0.003	0	5008	,	,		14133	0.001		0	False		,,,				2504	0					ENST00000332857.6																			0											c.(3187-3189)Cgg>Tgg		SPATA31 subfamily A, member 6							1	1	1					9																	43625500		185	659	844	SO:0001583	missense	389730							g.chr9:43625500G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3187C>T	9.37:g.43625500G>A	ENSP00000329825:p.Arg1063Trp						p.R1063W	NM_001145196.1	NP_001138668.1					4	3215	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.3187C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165371	0.21538	.	.	ENSG00000185775	ENST00000332857	T	0.03772	3.81	1.9	-3.79	0.04320	.	2.867030	0.01597	N	0.021847	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	P	0.49559	0.925	B	0.34873	0.191	T	0.42749	-0.9433	10	0.62326	D	0.03	.	9.8271	0.40919	0.7723:0.0:0.2277:0.0	.	1063	Q5VVP1	F75A6_HUMAN	W	1063	ENSP00000329825:R1063W	ENSP00000329825:R1063W	R	-	1	2	FAM75A6	43565496	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.446000	0.00232	-2.125000	0.00821	-1.979000	0.00458	CGG		0.557	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		4	91	0	0	0	1	0	4	91					A	43625500	G	A	43625500	3	1	35	1	0	0	0	0	1	0	0	0	5622	1086	38	1	848	1	FAM75A6	9	43625500	Missense_Mutation	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		43625500	97587931	8	663										
SDCCAG3	10807	broad.mit.edu	37	chr9	139302344	139302344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ttcttggtcttcagaaactcTctaaaagagaatggatttgc	8	7	4	2			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr9:139302344T>C	ENST00000357365.3	-	4	465	c.336A>G	c.(334-336)agA>agG	p.R112R	PMPCA_ENST00000371720.1_5'Flank|SDCCAG3_ENST00000461693.1_5'Flank|SDCCAG3_ENST00000298537.7_Silent_p.R89R|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000371725.3_Silent_p.R39R|PMPCA_ENST00000371717.3_5'Flank	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	112						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCAGAAACTCTCTAAAAGAGA	0.453																																						ENST00000298537.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16						c.(265-267)agA>agG		serologically defined colon cancer antigen 3							103	106	105					9																	139302344		1869	4102	5971	SO:0001819	synonymous_variant	10807					cytoplasm		g.chr9:139302344T>C	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.336A>G	9.37:g.139302344T>C						SDCCAG3_ENST00000371725.3_Silent_p.R39R|SDCCAG3_ENST00000357365.3_Silent_p.R112R	p.R89R	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	3	478	-		Myeloproliferative disorder(178;0.0511)	112					A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Silent	SNP	ENST00000357365.3	37	c.267A>G	CCDS43904.1																																																																																				0.453	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643		5	62	0	0	0	1	0	5	62					C	139302344	T	C	139302344	2	2	35	1	0	0	0	0	0	0	0	1	13958	1548	54	4		4	SDCCAG3	9	139302344	Silent	SNP	T	TCGA-QR-A70C-01A-21D-A35D-08	95676844	139302344	1911087	9	664										
ZNF485	220992	broad.mit.edu	37	chr10	44112593	44112593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	aggcctttacaaagagctcaAcccttactggacatcagaga	8	11	2	2			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr10:44112593A>G	ENST00000361807.3	+	5	1296	c.1102A>G	c.(1102-1104)Acc>Gcc	p.T368A	ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AAAGAGCTCAACCCTTACTGG	0.443																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(1102-1104)Acc>Gcc		zinc finger protein 485							97	86	89					10																	44112593		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112593A>G	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1102A>G	10.37:g.44112593A>G	ENSP00000354694:p.Thr368Ala					ZNF485_ENST00000374435.3_Missense_Mutation_p.T368A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T277A	p.T368A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	1296	+			368					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.1102A>G	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	A	1.304	-0.604060	0.03717	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.06849	3.25;3.25;3.25	1.86	-0.72	0.11195	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.16066	0.365	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.45440	-0.9261	9	0.05351	T	0.99	.	3.648	0.08192	0.3384:0.4835:0.1781:0.0	.	368	Q8NCK3	ZN485_HUMAN	A	368;277;368	ENSP00000354694:T368A;ENSP00000363560:T277A;ENSP00000363558:T368A	ENSP00000354694:T368A	T	+	1	0	ZNF485	43432599	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.463000	0.00996	-0.196000	0.10366	0.260000	0.18958	ACC		0.443	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		9	33	0	0	0	1	0	9	33					G	44112593	A	G	44112593	3	3	35	1	0	0	0	0	1	0	0	0	17935	43	2	4	1116	4	ZNF485	10	44112593	Missense_Mutation	SNP	A	TCGA-QR-A70C-01A-21D-A35D-08		44112593	91422154	10	665										
ANKK1	255239	broad.mit.edu	37	chr11	113268739	113268740	+	Splice_Site	DEL	GT	GT	-													0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ccaggaactgatggacagtgGtgagtctgggtgccacgggc							TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr11:113268739_113268740delGT	ENST00000303941.3	+	7	1088		c.e7+1			NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ATGGACAGTGGTGAGTCTGGGT	0.599																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.e7+1		ankyrin repeat and kinase domain containing 1																																				SO:0001630	splice_region_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113268739_113268740delGT	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.994+1GT>-	11.37:g.113268739_113268740delGT								NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	7	1088	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)							Splice_Site	DEL	ENST00000303941.3	37		CCDS44734.1																																																																																				0.599	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	Intron	2	4						2	4	---	---	---	---	-	113268740	GT	-	113268739	8	5	35	1	0	1	0	1	0	0	1	0	631	1275	44	0	1021	0	ANKK1	11	113268739	Splice_Site	DEL	GT	TCGA-QR-A70C-01A-21D-A35D-08		113268739	21737777	11	666										
BEST3	144453	broad.mit.edu	37	chr12	70048984	70048984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ttgaatatattttcctcagcGctggctgaaactgtctgggg	11	8	2	2	rs376220817		TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1708-1710)agC>agT		bestrophin 3		G	,	1,3703		0,1,1851	42	42	42		1710,1071	-7.7	0	12		42	0,8188		0,0,4094	no	coding-synonymous,coding-synonymous	BEST3	NM_032735.2,NM_152439.2	,	0,1,5945	AA,AG,GG		0.0,0.027,0.0084	,	570/669,357/456	70048984	1,11891	1852	4094	5946	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048984G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1710C>T	12.37:g.70048984G>A						BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000488961.1_Silent_p.S357S	p.S570S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1936	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		570					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.1710C>T	CCDS8992.2																																																																																				0.557	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		21	28	0	0	0	1	0	21	28					A	70048984	G	A	70048984	2	1	35	1	0	0	0	0	0	0	0	1	1406	1078	38	1		1	BEST3	12	70048984	Silent	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		70048984	63802911	12	667										
MYO1C	4641	broad.mit.edu	37	chr17	1381197	1381197	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ggactcaccaaaatcgagatGatgcccttaaacttctcctc	6	13	2	2			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr17:1381197G>A	ENST00000575158.1	-	13	1541	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Silent_p.I490I|MYO1C_ENST00000438665.2_Silent_p.I471I|MYO1C_ENST00000545534.2_Silent_p.I466I			Q12965	MYO1E_HUMAN	myosin IC	459	Myosin motor.				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)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATCGAGATGATGCCCTTAA	0.567																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1468-1470)atC>atT		myosin IC							147	138	141					17																	1381197		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1381197G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1365C>T	17.37:g.1381197G>A						MYO1C_ENST00000575158.1_Silent_p.I455I|MYO1C_ENST00000361007.2_Silent_p.I455I|MYO1C_ENST00000438665.2_Silent_p.I471I|MYO1C_ENST00000545534.2_Silent_p.I466I	p.I490I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	13	1794	-			490			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1470C>T	CCDS11003.1																																																																																				0.567	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			6	111	0	0	0	1	0	6	111					A	1381197	G	A	1381197	2	1	35	1	0	0	0	0	0	0	0	1	10070	1280	45	3		3	MYO1C	17	1381197	Silent	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		1381197	79814013	13	668										
CDK5RAP3	80279	broad.mit.edu	37	chr17	46053346	46053346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	gtggtggaacgaccccacctCgaggagcttcctgagcaggt	14	12	0	1			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr17:46053346C>T	ENST00000338399.4	+	8	871	c.765C>T	c.(763-765)ctC>ctT	p.L255L	CDK5RAP3_ENST00000536708.2_Silent_p.L280L|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	255					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GACCCCACCTCGAGGAGCTTC	0.602																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(838-840)ctC>ctT		CDK5 regulatory subunit associated protein 3							56	57	57					17																	46053346		2084	4201	6285	SO:0001819	synonymous_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46053346C>T	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.765C>T	17.37:g.46053346C>T						CDK5RAP3_ENST00000338399.4_Silent_p.L255L	p.L280L	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			8	949	+			255					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	c.840C>T	CCDS42356.1																																																																																				0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		3	28	0	0	0	1	0	3	28					T	46053346	C	T	46053346	2	4	35	1	0	0	0	0	0	0	0	1	3147	871	31	2		2	CDK5RAP3	17	46053346	Silent	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	44672149	46053346	35141864	14	669										
ZNF574	64763	broad.mit.edu	37	chr19	42584442	42584442	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	actgtggcaaggctttcacgCaaagctccacactgaggcag	11	12	1	1			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr19:42584442C>T	ENST00000600245.1	+	2	2339	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCTTTCACGCAAAGCTCCAC	0.632																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1684-1686)Caa>Taa		zinc finger protein 574							86	85	86					19																	42584442		2203	4300	6503	SO:0001587	stop_gained	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584442C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1684C>T	19.37:g.42584442C>T	ENSP00000469029:p.Gln562*					ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Q652*|ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Q562*	p.Q562*			Q6ZN55	ZN574_HUMAN			2	2339	+		Prostate(69;0.059)	562					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Nonsense_Mutation	SNP	ENST00000600245.1	37	c.1684C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872875	0.51695	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	.	.	.	5.18	5.18	0.71444	.	0.156455	0.43110	D	0.000616	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-15.3739	17.4592	0.87615	0.0:1.0:0.0:0.0	.	.	.	.	X	652;562;169	.	ENSP00000222339:Q652X	Q	+	1	0	ZNF574	47276282	0.185000	0.23213	0.129000	0.21949	0.024000	0.10985	2.144000	0.42197	2.418000	0.82041	0.650000	0.86243	CAA		0.632	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		5	74	0	0	0	1	0	5	74					T	42584442	C	T	42584442	4	4	35	1	0	0	0	0	0	1	0	0	18003	711	25	3	1686	3	ZNF574	19	42584442	Nonsense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08		42584442	16544541	15	670										
ZMYND8	23613	broad.mit.edu	37	chr20	45910870	45910870	+	Missense_Mutation	SNP	G	G	A													0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	catgttgtccaaagaatcggGcatcgacctgcccgtcttta							TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr20:45910870G>A	ENST00000311275.7	-	10	1167	c.914C>T	c.(913-915)gCc>gTc	p.A305V	ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325V|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300V	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	305	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAAGAATCGGGCATCGACCTG	0.448																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(913-915)gCc>gTc		zinc finger, MYND-type containing 8							108	107	107					20																	45910870		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45910870G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.914C>T	20.37:g.45910870G>A	ENSP00000312237:p.Ala305Val					ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242V|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300V|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325V|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300V|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332V|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325V|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305V|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300V|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305V	p.A305V			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		10	1167	-			305			PWWP.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.914C>T		.	.	.	.	.	.	.	.	.	.	G	14.74	2.625415	0.46840	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	6.03	6.03	0.97812	PWWP (2);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.00808	-1.17	0.52099	D	0.999949	B;B;P;B;P;B;B;B;B;P;P;P;B;P;P;B;B	0.40970	0.169;0.053;0.702;0.338;0.488;0.052;0.433;0.027;0.006;0.604;0.656;0.505;0.338;0.541;0.734;0.034;0.066	B;B;P;B;B;B;B;B;B;B;B;B;B;P;B;B;B	0.46629	0.267;0.061;0.522;0.394;0.394;0.017;0.273;0.061;0.017;0.273;0.394;0.394;0.394;0.522;0.203;0.134;0.134	T	0.32929	-0.9888	10	0.07325	T	0.83	-25.4729	18.7558	0.91832	0.0:0.0:1.0:0.0	.	300;332;300;300;299;325;305;300;325;325;305;242;300;300;325;300;305	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	V	300;305;300;305;325;325;305;332;305;242;325;300;300	ENSP00000354166:A300V;ENSP00000312237:A305V;ENSP00000392964:A300V;ENSP00000262975:A305V;ENSP00000420095:A325V;ENSP00000335537:A325V;ENSP00000379577:A305V;ENSP00000439800:A332V;ENSP00000348246:A305V;ENSP00000396725:A242V;ENSP00000418210:A325V;ENSP00000361093:A300V;ENSP00000443086:A300V	ENSP00000262975:A305V	A	-	2	0	ZMYND8	45344277	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	8.062000	0.89475	2.868000	0.98415	0.557000	0.71058	GCC		0.448	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		5	68	0	0	0	1	0	5	68					A	45910870	G	A	45910870	3	1	35	1	0	0	0	0	1	0	0	0	17708	1203	42	3	2648	3	ZMYND8	20	45910870	Missense_Mutation	SNP	G	TCGA-QR-A70C-01A-21D-A35D-08		45910870	17114650	16	671	4	2								
ZMYND8	23613	broad.mit.edu	37	chr20	45910871	45910871	+	Missense_Mutation	SNP	C	C	T													0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	atgttgtccaaagaatcgggCatcgacctgcccgtctttat							TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chr20:45910871C>T	ENST00000311275.7	-	10	1166	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	305	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAGAATCGGGCATCGACCTGC	0.448																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(913-915)Gcc>Acc		zinc finger, MYND-type containing 8							108	107	107					20																	45910871		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45910871C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.913G>A	20.37:g.45910871C>T	ENSP00000312237:p.Ala305Thr					ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A242T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.A300T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A325T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A300T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A332T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A325T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A305T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A300T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A305T	p.A305T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		10	1166	-			305			PWWP.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.913G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.678897|5.678897	0.96764|0.96764	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71222|.	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55|.	6.03|6.03	6.03|6.03	0.97812|0.97812	PWWP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69593|0.69593	0.3128|0.3128	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999992|0.999992	D;P;D;D;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.67145|.	0.996;0.913;0.964;0.964;0.98;0.911;0.975;0.913;0.69;0.975;0.98;0.964;0.964;0.964;0.993;0.929;0.929|.	D;P;D;D;D;P;P;P;P;P;D;D;D;D;P;P;P|.	0.67725|.	0.953;0.708;0.938;0.938;0.938;0.614;0.898;0.708;0.614;0.898;0.938;0.938;0.938;0.938;0.879;0.853;0.853|.	T|T	0.63642|0.63642	-0.6591|-0.6591	10|5	0.62326|.	D|.	0.03|.	-25.4729|-25.4729	18.7558|18.7558	0.91832|0.91832	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	300;332;300;300;299;325;305;300;325;325;305;242;300;300;325;300;305|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	T|Y	300;305;300;305;325;325;305;332;305;242;325;300;300|231	ENSP00000354166:A300T;ENSP00000312237:A305T;ENSP00000392964:A300T;ENSP00000262975:A305T;ENSP00000420095:A325T;ENSP00000335537:A325T;ENSP00000379577:A305T;ENSP00000439800:A332T;ENSP00000348246:A305T;ENSP00000396725:A242T;ENSP00000418210:A325T;ENSP00000361093:A300T;ENSP00000443086:A300T|.	ENSP00000262975:A305T|.	A|C	-|-	1|2	0|0	ZMYND8|ZMYND8	45344278|45344278	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.987000|0.987000	0.75469|0.75469	7.818000|7.818000	0.86416|0.86416	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GCC|TGC		0.448	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		5	67	0	0	0	1	0	5	67					T	45910871	C	T	45910871	3	4	35	1	0	0	0	0	1	0	0	0	17708	710	25	3	2649	3	ZMYND8	20	45910871	Missense_Mutation	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	1	45910871	17114649	17	672	4	2								
SCML2	10389	broad.mit.edu	37	chrX	18283726	18283726	+	Frame_Shift_Del	DEL	T	T	-													0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	ttttttcctgagtttggaccTtttttccttggtgtgatatt							TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chrX:18283726delT	ENST00000251900.4	-	8	1086	c.927delA	c.(925-927)aaafs	p.K309fs	SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	309					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGTTTGGACCTTTTTTCCTTG	0.358																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(925-927)aafs		sex comb on midleg-like 2 (Drosophila)							204	191	195					X																	18283726		2203	4300	6503	SO:0001589	frameshift_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18283726delT	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.927delA	X.37:g.18283726delT	ENSP00000251900:p.Lys309fs					SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs	p.K309fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			8	1086	-	Hepatocellular(33;0.183)		309					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Frame_Shift_Del	DEL	ENST00000251900.4	37	c.927delA	CCDS14185.1																																																																																				0.358	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		7	162						7	162	---	---	---	---	-	18283726	T	-	18283726	7	5	35	1	0	1	0	1	0	0	0	0	13910	1606	56	0	1207	0	SCML2	23	18283726	Frame_Shift_Del	DEL	T	TCGA-QR-A70C-01A-21D-A35D-08		18283726	136986834	18	673										
OGT	8473	broad.mit.edu	37	chrX	70756122	70756122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.1843137254902	1.97385620915033	0.84593837535014	1	1	0	gaggcagctgagagacactgCatgcagctctggagacaaga	14	9	1	4			TCGA-QR-A70C-01A-21D-A35D-08	TCGA-QR-A70C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4765d0df-a878-4492-8744-14674ed5fd2e	9def449a-5289-4f58-8bb7-5684a7dc9f64	g.chrX:70756122C>T	ENST00000373719.3	+	2	349	c.132C>T	c.(130-132)tgC>tgT	p.C44C	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Silent_p.C34C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	44					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGAGACACTGCATGCAGCTCT	0.478																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(130-132)tgC>tgT		O-linked N-acetylglucosamine (GlcNAc) transferase							121	94	103					X																	70756122		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70756122C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.132C>T	X.37:g.70756122C>T						OGT_ENST00000373701.3_Silent_p.C34C|OGT_ENST00000498566.1_3'UTR	p.C44C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			2	349	+	Renal(35;0.156)		44					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.132C>T	CCDS14414.1																																																																																				0.478	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		18	24	0	0	0	1	0	18	24					T	70756122	C	T	70756122	2	4	35	1	0	0	0	0	0	0	0	1	10847	718	25	3		3	OGT	23	70756122	Silent	SNP	C	TCGA-QR-A70C-01A-21D-A35D-08	52472396	70756122	84514438	19	674										
PLCD4	84812	broad.mit.edu	37	chr2	219483500	219483500	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	gctgttggtggatcttgtcaCcagcatggaccatcaggagc							TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr2:219483500delC	ENST00000450993.2	+	4	719	c.380delC	c.(379-381)accfs	p.T127fs	U3_ENST00000516996.1_RNA|PLCD4_ENST00000417849.1_Frame_Shift_Del_p.T127fs|PLCD4_ENST00000432688.1_Frame_Shift_Del_p.T127fs	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	127					acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GATCTTGTCACCAGCATGGAC	0.602																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(379-381)acfs		phospholipase C, delta 4							25	26	26					2																	219483500		2066	4201	6267	SO:0001589	frameshift_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219483500delC	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.380delC	2.37:g.219483500delC	ENSP00000388631:p.Thr127fs					PLCD4_ENST00000417849.1_Frame_Shift_Del_p.T127fs|PLCD4_ENST00000432688.1_Frame_Shift_Del_p.T127fs	p.T127fs	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	719	+		Renal(207;0.0915)	127					Q53FS8	Frame_Shift_Del	DEL	ENST00000450993.2	37	c.380delC	CCDS46516.1																																																																																				0.602	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			2	4						2	4	---	---	---	---	-	219483500	C	-	219483500	7	5	36	1	0	1	0	1	0	0	0	0	12033	507	18	0	390	0	PLCD4	2	219483500	Frame_Shift_Del	DEL	C	TCGA-QR-A70D-01A-11D-A35D-08		219483500	23715873	1	675										
PIK3CB	5291	broad.mit.edu	37	chr3	138382751	138382751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctgaggagcagctcacctgGccagtttttttgaccatgat	10	11	1	3			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr3:138382751G>A	ENST00000477593.1	-	20	2866	c.2793C>T	c.(2791-2793)ggC>ggT	p.G931G	PIK3CB_ENST00000544716.1_Silent_p.G382G|PIK3CB_ENST00000289153.2_Silent_p.G931G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	931	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGCTCACCTGGCCAGTTTTTT	0.433																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(2791-2793)ggC>ggT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							108	102	104					3																	138382751		2203	4300	6503	SO:0001819	synonymous_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138382751G>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2793C>T	3.37:g.138382751G>A						PIK3CB_ENST00000544716.1_Silent_p.G382G|PIK3CB_ENST00000289153.2_Silent_p.G931G	p.G931G			P42338	PK3CB_HUMAN			20	2866	-			931			PI3K/PI4K.		D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	c.2793C>T	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145193	0.21288	.	.	ENSG00000051382	ENST00000493568	.	.	.	5.78	1.7	0.24286	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-16.0574	2.298	0.04155	0.2431:0.3259:0.3187:0.1123	.	.	.	.	V	563	.	.	A	-	2	0	PIK3CB	139865441	0.073000	0.21202	1.000000	0.80357	0.985000	0.73830	-0.599000	0.05700	0.430000	0.26230	0.655000	0.94253	GCC		0.433	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			3	22	0	0	0	1	0	3	22					A	138382751	G	A	138382751	2	1	36	1	0	0	0	0	0	0	0	1	11914	1190	42	3		3	PIK3CB	3	138382751	Silent	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		138382751	59639679	2	676										
RFX3	5991	broad.mit.edu	37	chr9	3263080	3263080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggcaaaggcacttacagcgGcaacctgtaacgcaatccaa	10	12	0	0			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr9:3263080G>A	ENST00000382004.3	-	14	1771	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	487					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ACTTACAGCGGCAACCTGTAA	0.448																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1459-1461)gCc>gTc		regulatory factor X, 3 (influences HLA class II expression)							119	103	108					9																	3263080		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263080G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1460C>T	9.37:g.3263080G>A	ENSP00000371434:p.Ala487Val					RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V	p.A487V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1771	-			487					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1460C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091911	0.76756	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.16	6.16	0.99307	.	0.104953	0.64402	D	0.000003	T	0.40015	0.1100	N	0.20685	0.6	0.80722	D	1	B;P	0.36789	0.014;0.57	B;B	0.43225	0.022;0.412	T	0.08006	-1.0743	10	0.33940	T	0.23	-13.7307	20.8598	0.99761	0.0:0.0:1.0:0.0	.	487;487	P48380-2;P48380	.;RFX3_HUMAN	V	487;487;487;60	ENSP00000371434:A487V;ENSP00000351574:A487V;ENSP00000303847:A487V;ENSP00000400026:A60V	ENSP00000303847:A487V	A	-	2	0	RFX3	3253080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.017000	0.88712	2.937000	0.99478	0.650000	0.86243	GCC		0.448	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		3	40	0	0	0	1	0	3	40					A	3263080	G	A	3263080	3	1	36	1	0	0	0	0	1	0	0	0	13264	1203	42	3	965	3	RFX3	9	3263080	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		3263080	137950351	3	677										
IPO8	10526	broad.mit.edu	37	chr12	30818753	30818753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggtctgtcaggatttgataAcagaatgccatcatttttgg	11	6	3	2			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:30818753A>G	ENST00000256079.4	-	12	1586	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	IPO8_ENST00000544829.1_Silent_p.C211C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	416					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGATTTGATAACAGAATGCCA	0.378																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1246-1248)tgT>tgC		importin 8							93	94	94					12																	30818753		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818753A>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1248T>C	12.37:g.30818753A>G						IPO8_ENST00000544829.1_Silent_p.C211C	p.C416C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			12	1586	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		416					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.1248T>C	CCDS8719.1																																																																																				0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		17	26	0	0	0	1	0	17	26					G	30818753	A	G	30818753	2	3	36	1	0	0	0	0	0	0	0	1	7798	41	2	4		4	IPO8	12	30818753	Silent	SNP	A	TCGA-QR-A70D-01A-11D-A35D-08		30818753	103033142	4	678										
KCNH3	23416	broad.mit.edu	37	chr12	49938149	49938149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagatcgagagcagcgaatcCgagctgcctgagattggtac	14	9	0	3			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:49938149C>T	ENST00000257981.6	+	7	1433	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	391					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCAGCGAATCCGAGCTGCCTG	0.612																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1171-1173)tcC>tcT		potassium voltage-gated channel, subfamily H (eag-related), member 3							52	45	47					12																	49938149		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49938149C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1173C>T	12.37:g.49938149C>T							p.S391S	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			7	1433	+			391					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1173C>T	CCDS8786.1																																																																																				0.612	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		14	19	0	0	0	1	0	14	19					T	49938149	C	T	49938149	2	4	36	1	0	0	0	0	0	0	0	1	8033	639	23	2		2	KCNH3	12	49938149	Silent	SNP	C	TCGA-QR-A70D-01A-11D-A35D-08	19119396	49938149	83913746	5	679										
BAZ2A	11176	broad.mit.edu	37	chr12	57009121	57009121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagcccgaaggttagtgttaTgacttggggatgaaggttgc	15	6	0	2			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:57009121T>C	ENST00000551812.1	-	3	606	c.413A>G	c.(412-414)cAt>cGt	p.H138R	BAZ2A_ENST00000179765.5_Missense_Mutation_p.H136R|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H136R|BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	138					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTTAGTGTTATGACTTGGGGA	0.547																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(406-408)cAt>cGt		bromodomain adjacent to zinc finger domain, 2A							78	78	78					12																	57009121		1920	4126	6046	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009121T>C	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.413A>G	12.37:g.57009121T>C	ENSP00000446880:p.His138Arg					BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R|BAZ2A_ENST00000551812.1_Missense_Mutation_p.H138R|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H136R	p.H136R			Q9UIF9	BAZ2A_HUMAN			3	606	-			138					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.407A>G	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861259	0.51482	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.75	4.75	0.60458	.	0.219149	0.38663	N	0.001619	T	0.11665	0.0284	N	0.14661	0.345	0.30897	N	0.729663	B;B;B	0.28636	0.103;0.218;0.139	B;B;B	0.31101	0.039;0.124;0.058	T	0.07385	-1.0775	10	0.59425	D	0.04	.	12.1768	0.54190	0.0:0.0:0.0:1.0	.	138;136;138	B7Z8F7;F8VU39;Q9UIF9	.;.;BAZ2A_HUMAN	R	138;136;138;136	ENSP00000368754:H138R;ENSP00000179765:H136R;ENSP00000446880:H138R;ENSP00000447941:H136R	ENSP00000179765:H136R	H	-	2	0	BAZ2A	55295388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.037000	0.49775	2.126000	0.65437	0.533000	0.62120	CAT		0.547	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		5	41	0	0	0	1	0	5	41					C	57009121	T	C	57009121	3	2	36	1	0	0	0	0	1	0	0	0	1331	1464	51	4	5412	4	BAZ2A	12	57009121	Missense_Mutation	SNP	T	TCGA-QR-A70D-01A-11D-A35D-08	7070972	57009121	76842774	6	680										
AHNAK2	113146	broad.mit.edu	37	chr14	105417094	105417094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggccggctccctcggacacaGggccctctgggagtttcacg	14	15	2	0			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr14:105417094G>T	ENST00000333244.5	-	7	4813	c.4694C>A	c.(4693-4695)cCt>cAt	p.P1565H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1565						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCGGACACAGGGCCCTCTGG	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4693-4695)cCt>cAt		AHNAK nucleoprotein 2							99	102	101					14																	105417094		1874	4057	5931	SO:0001583	missense	113146					nucleus		g.chr14:105417094G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4694C>A	14.37:g.105417094G>T	ENSP00000353114:p.Pro1565His					AHNAK2_ENST00000557457.1_Intron	p.P1565H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4813	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1565					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4694C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	1.710	-0.499229	0.04291	.	.	ENSG00000185567	ENST00000333244	T	0.00724	5.78	3.66	-7.33	0.01431	.	.	.	.	.	T	0.00210	0.0006	N	0.00063	-2.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49995	-0.8879	9	0.38643	T	0.18	.	0.8871	0.01246	0.2124:0.2311:0.3212:0.2353	.	1565	Q8IVF2	AHNK2_HUMAN	H	1565	ENSP00000353114:P1565H	ENSP00000353114:P1565H	P	-	2	0	AHNAK2	104488139	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-1.672000	0.01464	-2.718000	0.00132	CCT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	145	1	0	0.150653	1	0.150653	4	145					T	105417094	G	T	105417094	3	4	36	1	0	0	0	0	1	0	0	0	415	1000	35	5	12697	5	AHNAK2	14	105417094	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		105417094	1932446	7	681										
PRKACA	5566	broad.mit.edu	37	chr19	14208594	14208594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctgaatgtagccctgctgGtcaatgagcagattctccgg	11	11	2	3			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr19:14208594G>A	ENST00000308677.4	-	6	724	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.D168D	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGCCCTGCTGGTCAATGAGCA	0.612																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(526-528)gaC>gaT		protein kinase, cAMP-dependent, catalytic, alpha							73	71	72					19																	14208594		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208594G>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.528C>T	19.37:g.14208594G>A						PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.D168D|PRKACA_ENST00000350356.3_5'UTR	p.D176D	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			6	724	-			176			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.528C>T	CCDS12304.1																																																																																				0.612	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		19	31	0	0	0	1	0	19	31					A	14208594	G	A	14208594	2	1	36	1	0	0	0	0	0	0	0	1	12497	1252	44	3		3	PRKACA	19	14208594	Silent	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		14208594	44920389	8	682										
MYH14	79784	broad.mit.edu	37	chr19	50720881	50720881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acccactgcagacgtactccGgccttttctgtgtggtcatc	9	14	2	1			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr19:50720881G>A	ENST00000596571.1	+	2	415	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	MYH14_ENST00000601313.1_Missense_Mutation_p.G139S|MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000440075.2_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S|MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	139	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGTACTCCGGCCTTTTCTG	0.602																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(415-417)Ggc>Agc		myosin, heavy chain 14, non-muscle							115	126	122					19																	50720881		2200	4296	6496	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50720881G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.415G>A	19.37:g.50720881G>A	ENSP00000472819:p.Gly139Ser					MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000596571.1_Missense_Mutation_p.G139S|MYH14_ENST00000601313.1_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S|MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S	p.G139S			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	462	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	139			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.415G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734538	0.69189	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	4.36	4.36	0.52297	Myosin head, motor domain (3);	.	.	.	.	D	0.97120	0.9059	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98016	1.0368	9	0.87932	D	0	.	14.7762	0.69734	0.0:0.0:1.0:0.0	.	139;139;139	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	139	ENSP00000406273:G139S;ENSP00000366169:G139S;ENSP00000407879:G139S;ENSP00000262269:G139S	ENSP00000262269:G139S	G	+	1	0	MYH14	55412693	1.000000	0.71417	0.978000	0.43139	0.166000	0.22503	9.596000	0.98267	2.439000	0.82584	0.655000	0.94253	GGC		0.602	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		28	50	0	0	0	1	0	28	50					A	50720881	G	A	50720881	3	1	36	1	0	0	0	0	1	0	0	0	10033	1116	39	2	421	2	MYH14	19	50720881	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08	36512287	50720881	8408102	9	683										
ZC3H7B	23264	broad.mit.edu	37	chr22	41735127	41735127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gcaggaccctccccagcaccGacagcctggatgacttctca	9	17	1	1			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr22:41735127G>A	ENST00000352645.4	+	9	1005	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	266					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCCAGCACCGACAGCCTGGA	0.662																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(748-750)Gac>Aac		zinc finger CCCH-type containing 7B							98	84	88					22																	41735127		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41735127G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.748G>A	22.37:g.41735127G>A	ENSP00000345793:p.Asp250Asn					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			9	1005	+			266					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.748G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048891	0.36181	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.11604	2.76;2.76	4.98	4.98	0.66077	.	0.185402	0.45867	D	0.000323	T	0.07143	0.0181	N	0.14661	0.345	0.31091	N	0.71081	B	0.28933	0.228	B	0.20184	0.028	T	0.09975	-1.0650	10	0.15066	T	0.55	-25.9826	18.2407	0.89967	0.0:0.0:1.0:0.0	.	250	Q9UGR2-2	.	N	250	ENSP00000345793:D250N;ENSP00000263243:D250N	ENSP00000263243:D250N	D	+	1	0	ZC3H7B	40065073	1.000000	0.71417	0.852000	0.33557	0.604000	0.37047	6.674000	0.74487	2.286000	0.76751	0.561000	0.74099	GAC		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		25	40	0	0	0	1	0	25	40					A	41735127	G	A	41735127	3	1	36	1	0	0	0	0	1	0	0	0	17570	1058	37	2	778	2	ZC3H7B	22	41735127	Missense_Mutation	SNP	G	TCGA-QR-A70D-01A-11D-A35D-08		41735127	9569439	10	684										
TAF1	6872	broad.mit.edu	37	chrX	70603867	70603867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agagatgttttttatgcgcaCacctcaggacctcacaggca	9	11	2	1			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chrX:70603867C>T	ENST00000373790.4	+	13	2051	c.2000C>T	c.(1999-2001)aCa>aTa	p.T667I	TAF1_ENST00000276072.3_Missense_Mutation_p.T688I|TAF1_ENST00000449580.1_Missense_Mutation_p.T667I|TAF1_ENST00000423759.1_Missense_Mutation_p.T688I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	667	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTATGCGCACACCTCAGGAC	0.448																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1999-2001)aCa>aTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							221	178	192					X																	70603867		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603867C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2000C>T	X.37:g.70603867C>T	ENSP00000362895:p.Thr667Ile					TAF1_ENST00000423759.1_Missense_Mutation_p.T688I|TAF1_ENST00000276072.3_Missense_Mutation_p.T688I|TAF1_ENST00000373790.4_Missense_Mutation_p.T667I	p.T667I			P21675	TAF1_HUMAN			13	2051	+	Renal(35;0.156)	all_lung(315;0.000321)	667					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2000C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	26.8	4.774156	0.90108	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.83312	2.635	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.953	T	0.51942	-0.8641	10	0.72032	D	0.01	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	667;688	P21675;P21675-2	TAF1_HUMAN;.	I	667;667;688;688	ENSP00000362895:T667I;ENSP00000389000:T667I;ENSP00000406549:T688I;ENSP00000276072:T688I	ENSP00000276072:T688I	T	+	2	0	TAF1	70520592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.299000	0.78831	2.474000	0.83562	0.600000	0.82982	ACA		0.448	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		26	35	0	0	0	1	0	26	35					T	70603867	C	T	70603867	3	4	36	1	0	0	0	0	1	0	0	0	15510	478	17	3	2113	3	TAF1	23	70603867	Missense_Mutation	SNP	C	TCGA-QR-A70D-01A-11D-A35D-08		70603867	84666693	11	685										
COL4A5	1287	broad.mit.edu	37	chrX	107936078	107936078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcaagaaatgactattcttaCtggctctctaccccagagcc	6	13	3	3			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chrX:107936078C>T	ENST00000361603.2	+	48	4855	c.4611C>T	c.(4609-4611)taC>taT	p.Y1537Y	COL4A5_ENST00000328300.6_Silent_p.Y1543Y	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1537	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTATTCTTACTGGCTCTCTA	0.478									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4627-4629)taC>taT		collagen, type IV, alpha 5							117	96	103					X																	107936078		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936078C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4611C>T	X.37:g.107936078C>T						COL4A5_ENST00000361603.2_Silent_p.Y1537Y	p.Y1543Y	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			50	4873	+			1537			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.4629C>T	CCDS14543.1																																																																																				0.478	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			29	43	0	0	0	1	0	29	43					T	107936078	C	T	107936078	2	4	36	1	0	0	0	0	0	0	0	1	3694	576	20	3		3	COL4A5	23	107936078	Silent	SNP	C	TCGA-QR-A70D-01A-11D-A35D-08	37332211	107936078	47334482	12	686										
VPRBP	9730	broad.mit.edu	37	chr3	51455620	51455620	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtgcagacaaaggctggctCcaagtagcagatgtcagcag	13	9	1	2			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr3:51455620C>A	ENST00000335891.5	-	9	2130	c.2121G>T	c.(2119-2121)tgG>tgT	p.W707C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1156					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AAGGCTGGCTCCAAGTAGCAG	0.423																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2119-2121)tgG>tgT		Vpr (HIV-1) binding protein							57	54	55					3																	51455620		1920	4126	6046	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51455620C>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2121G>T	3.37:g.51455620C>A	ENSP00000338857:p.Trp707Cys						p.W707C			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	9	2130	-			1156					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.2121G>T		.	.	.	.	.	.	.	.	.	.	C	24.5	4.535880	0.85812	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.57595	0.39;0.39	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.65940	-0.6046	10	0.52906	T	0.07	-10.0922	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1156	Q9Y4B6	VPRBP_HUMAN	C	727;707	ENSP00000393183:W727C;ENSP00000338857:W707C	ENSP00000338857:W707C	W	-	3	0	VPRBP	51430660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	TGG		0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		3	9	1	0	0.004672	1	0.004672	3	9					A	51455620	C	A	51455620	3	1	37	1	0	0	0	0	1	0	0	0	17182	856	30	5	1091	5	VPRBP	3	51455620	Missense_Mutation	SNP	C	TCGA-QR-A70E-01A-11D-A35D-08		51455620	146566810	1	687										
RXRB	6257	broad.mit.edu	37	chr6	33163151	33163151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcctcttacctggattaaacAgaatgattgccctcaggcag	8	11	2	2			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr6:33163151A>G	ENST00000374680.3	-	8	1548	c.1337T>C	c.(1336-1338)cTg>cCg	p.L446P	RXRB_ENST00000544186.1_Missense_Mutation_p.L260P|COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000395197.1_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|RXRB_ENST00000374685.4_Missense_Mutation_p.L450P|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000395194.1_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	446	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGATTAAACAGAATGATTGC	0.527																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(1336-1338)cTg>cCg		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						128	123	125					6																	33163151		1510	2709	4219	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33163151A>G	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1337T>C	6.37:g.33163151A>G	ENSP00000363812:p.Leu446Pro					RXRB_ENST00000374685.4_Missense_Mutation_p.L450P|RXRB_ENST00000544186.1_Missense_Mutation_p.L260P	p.L446P	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			8	1548	-			446			Ligand-binding (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.1337T>C	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366725	0.61513	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	D;D;D	0.82167	-1.58;-1.58;-1.58	5.12	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.94231	0.8148	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96035	0.9020	10	0.87932	D	0	.	12.9206	0.58230	1.0:0.0:0.0:0.0	.	260;446;490;446	E9PK95;Q5STP9;Q59G65;P28702	.;.;.;RXRB_HUMAN	P	450;446;260	ENSP00000363817:L450P;ENSP00000363812:L446P;ENSP00000439222:L260P	ENSP00000363812:L446P	L	-	2	0	RXRB	33271129	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.752000	0.91632	2.139000	0.66308	0.523000	0.50628	CTG		0.527	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		27	40	0	0	0	1	0	27	40					G	33163151	A	G	33163151	3	3	37	1	0	0	0	0	1	0	0	0	13764	188	7	4	276	4	RXRB	6	33163151	Missense_Mutation	SNP	A	TCGA-QR-A70E-01A-11D-A35D-08		33163151	137951916	2	688										
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	80	0	0	0	1	0	4	80					C	66479413	T	C	66479413	2	2	37	1	0	0	0	0	0	0	0	1	16815	1567	55	4		4	TYW1	7	66479413	Silent	SNP	T	TCGA-QR-A70E-01A-11D-A35D-08		66479413	92659250	3	689										
TEX10	54881	broad.mit.edu	37	chr9	103109543	103109543	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcgtacattagcatctttaTctgtaaacacagcagtcact	5	10	3	0			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr9:103109543T>A	ENST00000374902.4	-	3	502	c.326A>T	c.(325-327)gAt>gTt	p.D109V	TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	109						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGCATCTTTATCTGTAAACAC	0.368																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(325-327)gAt>gTt		testis expressed 10							145	152	150					9																	103109543		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109543T>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.326A>T	9.37:g.103109543T>A	ENSP00000364037:p.Asp109Val					TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V	p.D109V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	502	-		Acute lymphoblastic leukemia(62;0.0527)	109					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.326A>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740337	0.69304	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.70631	-0.5;-0.5;-0.5	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.91252	0.5030	10	0.87932	D	0	-11.3728	15.6679	0.77247	0.0:0.0:0.0:1.0	.	44;112;109	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	V	112;109;44	ENSP00000444555:D112V;ENSP00000364037:D109V;ENSP00000438120:D44V	ENSP00000364037:D109V	D	-	2	0	TEX10	102149364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.092000	0.63282	0.482000	0.46254	GAT		0.368	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		24	136	0	0	0	1	0	24	136					A	103109543	T	A	103109543	3	1	37	1	0	0	0	0	1	0	0	0	15769	1435	50	5	2515	5	TEX10	9	103109543	Missense_Mutation	SNP	T	TCGA-QR-A70E-01A-11D-A35D-08		103109543	38103888	4	690										
MKI67	4288	broad.mit.edu	37	chr10	129913862	129913862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcactttctttctctgttgcGtaatcagtttgtaatccaga	7	9	3	1	rs201621002		TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr10:129913862G>A	ENST00000368654.3	-	7	1185	c.810C>T	c.(808-810)taC>taT	p.Y270Y	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	270					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTCTGTTGCGTAATCAGTTT	0.428													G|||	1	0.000199681	0	0	5008	,	,		20366	0		0.001	False		,,,				2504	0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(808-810)taC>taT		marker of proliferation Ki-67							85	88	87					10																	129913862		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913862G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.810C>T	10.37:g.129913862G>A						MKI67_ENST00000368653.3_Intron	p.Y270Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1185	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	270					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.810C>T	CCDS7659.1																																																																																				0.428	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		3	37	0	0	0	1	0	3	37					A	129913862	G	A	129913862	2	1	37	1	0	0	0	0	0	0	0	1	9598	1140	40	1		1	MKI67	10	129913862	Silent	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		129913862	5620885	5	691										
SLC22A12	116085	broad.mit.edu	37	chr11	64359373	64359373	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcgaggccgacacggagccGtgtgtggatggctgggtcta	18	9	1	0			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr11:64359373G>A	ENST00000377574.1	+	1	1092	c.345G>A	c.(343-345)ccG>ccA	p.P115P	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P|SLC22A12_ENST00000377567.2_Silent_p.P115P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	115					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	ACACGGAGCCGTGTGTGGATG	0.662																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(343-345)ccG>ccA		solute carrier family 22 (organic anion/urate transporter), member 12							32	35	34					11																	64359373		2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359373G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.345G>A	11.37:g.64359373G>A						SLC22A12_ENST00000377567.2_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.P115P	p.P115P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			1	1092	+			115					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.345G>A	CCDS8075.1																																																																																				0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		26	3	0	0	0	1	0	26	3					A	64359373	G	A	64359373	2	1	37	1	0	0	0	0	0	0	0	1	14443	1132	40	1		1	SLC22A12	11	64359373	Silent	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		64359373	70647143	6	692										
ME3	10873	broad.mit.edu	37	chr11	86382833	86382833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	atgagggttcctggtgacatCgtatccgcgcttcttcaggg	13	10	2	2			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr11:86382833C>T	ENST00000393324.3	-	1	407	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ME3_ENST00000543262.1_Missense_Mutation_p.D52N|ME3_ENST00000359636.2_Missense_Mutation_p.D52N	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	52					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CTGGTGACATCGTATCCGCGC	0.701																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(154-156)Gat>Aat		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						49	47	48					11																	86382833		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86382833C>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.154G>A	11.37:g.86382833C>T	ENSP00000376998:p.Asp52Asn					ME3_ENST00000359636.2_Missense_Mutation_p.D52N|ME3_ENST00000393324.3_Missense_Mutation_p.D52N	p.D52N	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			2	480	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	52					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.154G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421899	0.96111	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000530335;ENST00000532471;ENST00000526834;ENST00000526944	T;T;T;T;T;T;T;T	0.56275	2.44;2.44;2.44;2.44;2.44;0.47;0.47;0.47	5.16	5.16	0.70880	.	0.101483	0.64402	N	0.000004	T	0.46073	0.1374	L	0.39245	1.2	0.80722	D	1	B	0.32010	0.351	B	0.35655	0.207	T	0.36261	-0.9755	9	.	.	.	.	14.2024	0.65712	0.0:1.0:0.0:0.0	.	52	Q16798	MAON_HUMAN	N	52	ENSP00000352657:D52N;ENSP00000440246:D52N;ENSP00000376998:D52N;ENSP00000431182:D52N;ENSP00000434690:D52N;ENSP00000435427:D52N;ENSP00000437204:D52N;ENSP00000434431:D52N	.	D	-	1	0	ME3	86060481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.300000	0.59079	2.408000	0.81797	0.555000	0.69702	GAT		0.701	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			6	54	0	0	0	1	0	6	54					T	86382833	C	T	86382833	3	4	37	1	0	0	0	0	1	0	0	0	9419	884	31	2	1716	2	ME3	11	86382833	Missense_Mutation	SNP	C	TCGA-QR-A70E-01A-11D-A35D-08	22023460	86382833	48623683	7	693										
KLRC2	3823	broad.mit.edu	37	chr12	10587970	10587970	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggacaatgcaaatgattcctAggacctcggcagtgagcttc	11	10	0	2			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr12:10587970A>T	ENST00000539033.1	-	2	241	c.227T>A	c.(226-228)cTa>cAa	p.L76Q	KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000381902.2_Missense_Mutation_p.L76Q|KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q																							AATGATTCCTAGGACCTCGGC	0.423																																						ENST00000381902.2																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(226-228)cTa>cAa		killer cell lectin-like receptor subfamily C, member 2							183	204	197					12																	10587970		2202	4298	6500	SO:0001583	missense	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10587970A>T																												ENST00000539033.1:c.227T>A	12.37:g.10587970A>T	ENSP00000437563:p.Leu76Gln					KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q|NKG2-E_ENST00000539033.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q	p.L76Q	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN			2	233	-			76						Missense_Mutation	SNP	ENST00000539033.1	37	c.227T>A		.	.	.	.	.	.	.	.	.	.	A	14.29	2.490623	0.44249	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901;ENST00000536833	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	2.99	2.99	0.34606	C-type lectin fold (1);	0.000000	0.40144	N	0.001178	T	0.38161	0.1030	M	0.94021	3.485	0.32719	N	0.510577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57021	-0.7882	10	0.87932	D	0	.	8.1179	0.30955	1.0:0.0:0.0:0.0	.	62;76;76	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	Q	76;76;76;17	ENSP00000437563:L76Q;ENSP00000371327:L76Q;ENSP00000371326:L76Q;ENSP00000444754:L17Q	ENSP00000371326:L76Q	L	-	2	0	KLRC2;RP11-277P12.6	10479237	0.824000	0.29247	0.083000	0.20561	0.009000	0.06853	3.090000	0.50191	1.341000	0.45600	0.414000	0.27820	CTA		0.423	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			32	79	0	0	0	1	0	32	79					T	10587970	A	T	10587970	3	4	37	1	0	0	0	0	1	0	0	0	8416	420	15	5	488	5	KLRC2	12	10587970	Missense_Mutation	SNP	A	TCGA-QR-A70E-01A-11D-A35D-08		10587970	123263925	8	694										
RSRC2	65117	broad.mit.edu	37	chr12	122999719	122999724	+	In_Frame_Del	DEL	TCCGGC	TCCGGC	-													0	0	1	0	NA	0	1	1	0	gaagggaggtggacttggagTccggcttaaacttctgctaa					rs202041060	byFrequency	TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr12:122999719_122999724delTCCGGC	ENST00000331738.7	-	6	798_803	c.653_658delGCCGGA	c.(652-660)agccggact>act	p.SR218del	RSRC2_ENST00000392442.2_5'Flank|RSRC2_ENST00000354654.2_In_Frame_Del_p.SR170del	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	218							poly(A) RNA binding (GO:0044822)	p.S218S(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGACTTGGAGTCCGGCTTAAACTTCT	0.383																																						ENST00000331738.7																			1	Substitution - coding silent(1)	p.S218S(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(652-660)act>a		arginine/serine-rich coiled-coil 2																																				SO:0001651	inframe_deletion	65117							g.chr12:122999719_122999724delTCCGGC	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.653_658delGCCGGA	12.37:g.122999719_122999724delTCCGGC	ENSP00000330188:p.Ser218_Arg219del					RSRC2_ENST00000354654.2_In_Frame_Del_p.SRT170del	p.SRT218del	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	6	798_803	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		218					Q6N040|Q6NW16|Q9H864	In_Frame_Del	DEL	ENST00000331738.7	37	c.653_658delGCCGGA	CCDS31920.1																																																																																				0.383	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		8	72						8	72	---	---	---	---	-	122999724	TCCGGC	-	122999719	7	5	37	1	0	1	0	1	0	0	0	0	13715	1667	58	0	666	0	RSRC2	12	122999719	In_Frame_Del	DEL	TCCGGC	TCGA-QR-A70E-01A-11D-A35D-08	112411749	122999719	10852176	9	695										
SYNE2	23224	broad.mit.edu	37	chr14	64450466	64450466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tttgtataggaaatgaacctGccactgatgataaaaaaaca	7	6	0	3	rs371320284	byFrequency	TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr14:64450466G>A	ENST00000344113.4	+	18	2225	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L671L|SYNE2_ENST00000358025.3_Silent_p.L671L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	671					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGAACCTGCCACTGATGA	0.284													G|||	5	0.000998403	0	0	5008	,	,		14120	0		0	False		,,,				2504	0.0051					ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2011-2013)ctG>ctA		spectrin repeat containing, nuclear envelope 2		G	,	0,3590		0,0,1795	39	37	38		2013,2013	-3.2	0	14		38	1,8119		0,1,4059	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	0,1,5854	AA,AG,GG		0.0123,0.0,0.0085	,	671/6886,671/6908	64450466	1,11709	1795	4060	5855	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64450466G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2013G>A	14.37:g.64450466G>A						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L671L|SYNE2_ENST00000554584.1_Silent_p.L671L	p.L671L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	18	2243	+			671					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2013G>A	CCDS41963.1																																																																																				0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	46	0	0	0	1	0	8	46					A	64450466	G	A	64450466	2	1	37	1	0	0	0	0	0	0	0	1	15443	1306	46	3		3	SYNE2	14	64450466	Silent	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		64450466	42899074	10	696										
TMC7	79905	broad.mit.edu	37	chr16	19063129	19063129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aataatacctctgacaatcaGcatatcacggtaaatgtgac	6	9	3	2			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr16:19063129G>A	ENST00000304381.5	+	13	1992	c.1862G>A	c.(1861-1863)aGc>aAc	p.S621N	TMC7_ENST00000569532.1_Missense_Mutation_p.S621N|TMC7_ENST00000421369.3_Missense_Mutation_p.S511N	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	621					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGACAATCAGCATATCACGG	0.403																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1531-1533)aGc>aAc		transmembrane channel-like 7							245	230	235					16																	19063129		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19063129G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1862G>A	16.37:g.19063129G>A	ENSP00000304710:p.Ser621Asn					TMC7_ENST00000304381.5_Missense_Mutation_p.S621N|TMC7_ENST00000569532.1_Missense_Mutation_p.S621N	p.S511N	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			13	2090	+			621					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1532G>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938721	0.92526	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72835	-0.61;-0.69	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.80422	2.495	0.50039	D	0.999843	P;B	0.38420	0.63;0.431	B;B	0.40602	0.334;0.254	T	0.78909	-0.2018	10	0.52906	T	0.07	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	621;621	Q7Z402;B3KSZ3	TMC7_HUMAN;.	N	621;511	ENSP00000304710:S621N;ENSP00000397081:S511N	ENSP00000304710:S621N	S	+	2	0	TMC7	18970630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.738000	0.91569	2.634000	0.89283	0.655000	0.94253	AGC		0.403	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	167	0	0	0	1	0	4	167					A	19063129	G	A	19063129	3	1	37	1	0	0	0	0	1	0	0	0	15987	971	34	3	1912	3	TMC7	16	19063129	Missense_Mutation	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		19063129	71291624	11	697										
LAMA3	3909	broad.mit.edu	37	chr18	21474265	21474265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttattttctgattttagactGcataaaccaagaacccaaag	5	8	1	3			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr18:21474265G>A	ENST00000313654.9	+	43	5655	c.5414G>A	c.(5413-5415)tGc>tAc	p.C1805Y	LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y|LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y|AC010754.1_ENST00000408462.1_RNA|LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1805	Domain III A.|Laminin EGF-like 15; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATTTTAGACTGCATAAACCAA	0.373																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(5413-5415)tGc>tAc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						93	91	92					18																	21474265		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21474265G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5414G>A	18.37:g.21474265G>A	ENSP00000324532:p.Cys1805Tyr					LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y|LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y	p.C1805Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			43	5655	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1805			Domain III A.|Laminin EGF-like 15; truncated.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5414G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783142	0.70222	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.57595	0.39;0.81;2.16	5.63	5.63	0.86233	.	.	.	.	.	T	0.71459	0.3342	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.989;0.991;0.999;0.992	P;P;D;P	0.68192	0.768;0.822;0.956;0.907	T	0.73531	-0.3953	9	0.87932	D	0	.	16.9486	0.86237	0.0:0.0:1.0:0.0	.	196;196;1805;1805	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Y	1805;1805;196	ENSP00000324532:C1805Y;ENSP00000382432:C1805Y;ENSP00000269217:C196Y	ENSP00000269217:C196Y	C	+	2	0	LAMA3	19728263	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	5.405000	0.66351	2.797000	0.96272	0.655000	0.94253	TGC		0.373	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	36	0	0	0	1	0	3	36					A	21474265	G	A	21474265	3	1	37	1	0	0	0	0	1	0	0	0	8607	1319	46	3	5759	3	LAMA3	18	21474265	Missense_Mutation	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		21474265	56602983	12	698										
PRICKLE3	4007	broad.mit.edu	37	chrX	49034506	49034506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtggcggccctcagcctccGtgcactcaggggagaagatg	15	12	2	2	rs148273554		TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chrX:49034506G>A	ENST00000376317.3	-	7	885	c.791C>T	c.(790-792)aCg>aTg	p.T264M	PRICKLE3_ENST00000538114.1_Splice_Site_p.T251M|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	264	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CTCAGCCTCCGTGCACTCAGG	0.632																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(790-792)aCg>aTg		prickle homolog 3 (Drosophila)		G	MET/THR	0,3835		0,0,0,1632,571	37	32	34		791	3.8	1	X	dbSNP_134	34	2,6726		0,1,1,2427,1871	yes	missense	PRICKLE3	NM_006150.3	81	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging	264/616	49034506	2,10561	2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49034506G>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.791C>T	X.37:g.49034506G>A	ENSP00000365494:p.Thr264Met					PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M|PRICKLE3_ENST00000538114.1_Splice_Site_p.T251_splice|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M	p.T264M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			7	885	-			264			LIM zinc-binding 2.		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.791C>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527864	0.64860	0.0	2.97E-4	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	D;D;D;T	0.88354	-2.37;-2.37;-2.37;-0.78	4.67	3.78	0.43462	Zinc finger, LIM-type (5);	0.000000	0.39341	N	0.001387	D	0.92873	0.7733	M	0.75884	2.315	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;0.996	D;D;D;D	0.81914	0.981;0.97;0.995;0.91	D	0.92957	0.6385	10	0.87932	D	0	0.0076	9.9126	0.41415	0.1064:0.0:0.8936:0.0	.	264;226;183;264	B2RBS3;B7Z6S4;B7Z8F2;O43900	.;.;.;PRIC3_HUMAN	M	264;183;196;251	ENSP00000365494:T264M;ENSP00000441385:T183M;ENSP00000446051:T196M;ENSP00000441743:T251M	ENSP00000365494:T264M	T	-	2	0	PRICKLE3	48921450	1.000000	0.71417	0.972000	0.41901	0.862000	0.49288	7.618000	0.83043	2.138000	0.66242	0.416000	0.27883	ACG		0.632	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		15	21	0	0	0	1	0	15	21					A	49034506	G	A	49034506	3	1	37	1	0	0	0	0	1	0	0	0	12488	1145	40	1	1068	1	PRICKLE3	23	49034506	Missense_Mutation	SNP	G	TCGA-QR-A70E-01A-11D-A35D-08		49034506	106236054	13	699										
HUWE1	10075	broad.mit.edu	37	chrX	53588818	53588818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgttcatatcaggataatccTcatccaattccatctcagag	5	12	4	1			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chrX:53588818T>C	ENST00000342160.3	-	54	7863	c.7406A>G	c.(7405-7407)gAg>gGg	p.E2469G	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2469	Asp-rich.|Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGATAATCCTCATCCAATTC	0.468																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7405-7407)gAg>gGg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							175	130	145					X																	53588818		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53588818T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7406A>G	X.37:g.53588818T>C	ENSP00000340648:p.Glu2469Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G	p.E2469G			Q7Z6Z7	HUWE1_HUMAN			54	7863	-			2469			Asp-rich.|Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7406A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.22|12.22	1.872221|1.872221	0.33069|0.33069	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.54071|.	0.59;0.59|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.180655|.	0.38663|.	N|.	0.001609|.	T|.	0.42017|.	0.1184|.	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.61080|.	0.981;0.989|.	D;D|.	0.70487|.	0.932;0.969|.	T|.	0.33727|.	-0.9857|.	10|.	0.66056|.	D|.	0.02|.	.|.	13.3489|13.3489	0.60591|0.60591	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2469;2469|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	G|W	2469|1502	ENSP00000340648:E2469G;ENSP00000262854:E2469G|.	ENSP00000262854:E2469G|.	E|X	-|-	2|3	0|0	HUWE1|HUWE1	53605543|53605543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.328000|7.328000	0.79160|0.79160	1.794000|1.794000	0.52575|0.52575	0.412000|0.412000	0.27726|0.27726	GAG|TGA		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	63	0	0	0	1	0	12	63					C	53588818	T	C	53588818	3	2	37	1	0	0	0	0	1	0	0	0	7461	1551	54	4	5838	4	HUWE1	23	53588818	Missense_Mutation	SNP	T	TCGA-QR-A70E-01A-11D-A35D-08	4554312	53588818	101681742	14	700										
FNDC7	163479	broad.mit.edu	37	chr1	109270464	109270464	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	agtgacattaaccccgtgttGgtgtccagtgacagagttga	12	8	0	4	rs142706173	byFrequency	TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr1:109270464G>T	ENST00000370017.3	+	7	1423	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F	FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	382	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ACCCCGTGTTGGTGTCCAGTG	0.522																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1144-1146)ttG>ttT		fibronectin type III domain containing 7							298	262	274					1																	109270464		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109270464G>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"Fibronectin type III domain containing"	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1146G>T	1.37:g.109270464G>T	ENSP00000359034:p.Leu382Phe					FNDC7_ENST00000271311.2_Missense_Mutation_p.L383F	p.L382F	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	7	1423	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	383			Fibronectin type-III 5.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1146G>T	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.486085|1.486085	0.26686|0.26686	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000445274|ENST00000370017;ENST00000271311	.|T;T	.|0.47869	.|0.83;0.83	5.73|5.73	0.683|0.683	0.17998|0.17998	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.682071	.|0.15384	.|N	.|0.265157	T|T	0.06600|0.06600	0.0169|0.0169	N|N	0.12182|0.12182	0.205|0.205	0.28422|0.28422	N|N	0.917692|0.917692	.|B;B	.|0.11235	.|0.003;0.004	.|B;B	.|0.12156	.|0.007;0.005	T|T	0.30475|0.30475	-0.9977|-0.9977	5|10	.|0.09338	.|T	.|0.73	-2.791|-2.791	1.6266|1.6266	0.02724|0.02724	0.1545:0.2324:0.3493:0.2639|0.1545:0.2324:0.3493:0.2639	.|.	.|383;382	.|Q5VTL7;E9PAZ5	.|FNDC7_HUMAN;.	C|F	158|382;383	.|ENSP00000359034:L382F;ENSP00000271311:L383F	.|ENSP00000271311:L383F	G|L	+|+	1|3	0|2	FNDC7|FNDC7	109071987|109071987	0.798000|0.798000	0.28890|0.28890	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	0.171000|0.171000	0.16685|0.16685	0.364000|0.364000	0.24374|0.24374	0.561000|0.561000	0.74099|0.74099	GGT|TTG		0.522	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		18	112	1	0	1.45105e-14	1	1.69289e-14	18	112					T	109270464	G	T	109270464	3	4	38	1	0	0	0	0	1	0	0	0	5973	1339	47	5	1172	5	FNDC7	1	109270464	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		109270464	139980157	1	701										
TTN	7273	broad.mit.edu	37	chr2	179596174	179596174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	aaggtcattcttatattatcGtcttcagtgatttcatcgct	6	8	5	1			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:179596174G>A	ENST00000591111.1	-	57	16592	c.16368C>T	c.(16366-16368)gaC>gaT	p.D5456D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.D5773D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.D4529D			Q8WZ42	TITIN_HUMAN	titin	12275	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTATCGTCTTCAGTGA	0.483																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17317-17319)gaC>gaT		titin							114	108	110					2																	179596174		1928	4141	6069	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596174G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16368C>T	2.37:g.179596174G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D4529D|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.D5456D	p.D5773D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		59	17543	-			5456			Ig-like 38.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.17319C>T																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	51	0	0	0	1	0	23	51					A	179596174	G	A	179596174	2	1	38	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179596174	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		179596174	63603199	2	702										
PIKFYVE	200576	broad.mit.edu	37	chr2	209150561	209150561	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	tctttcagattctgcttgctCtgtgtctgtgcttgatccaa	8	10	5	2			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:209150561C>T	ENST00000264380.4	+	6	883	c.725C>T	c.(724-726)tCt>tTt	p.S242F	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S145F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	242					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCTGCTTGCTCTGTGTCTGTG	0.428																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(724-726)tCt>tTt		phosphoinositide kinase, FYVE finger containing							149	146	147					2																	209150561		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209150561C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.725C>T	2.37:g.209150561C>T	ENSP00000264380:p.Ser242Phe					PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S242F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S156F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S145F	p.S242F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			6	883	+			242					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.725C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409595	0.62399	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.67698	1.44;-0.28;1.59	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	L	0.29908	0.895	0.58432	D	0.999997	P;P;D;B;D	0.54207	0.895;0.877;0.965;0.38;0.965	P;P;P;B;P	0.51135	0.548;0.467;0.66;0.191;0.66	T	0.68142	-0.5487	10	0.59425	D	0.04	-19.4426	16.5534	0.84478	0.0:0.8697:0.1303:0.0	.	242;242;156;242;145	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	F	145;242;242;156;242	ENSP00000264380:S242F;ENSP00000384356:S242F;ENSP00000405736:S242F	ENSP00000264380:S242F	S	+	2	0	PIKFYVE	208858806	1.000000	0.71417	0.827000	0.32855	0.864000	0.49448	3.998000	0.57024	2.809000	0.96659	0.655000	0.94253	TCT		0.428	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		4	88	0	0	0	1	0	4	88					T	209150561	C	T	209150561	3	4	38	1	0	0	0	0	1	0	0	0	11924	913	32	3	743	3	PIKFYVE	2	209150561	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	29554387	209150561	34048812	3	703										
PER2	8864	broad.mit.edu	37	chr2	239186523	239186523	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ctggctgggctggggctccaCgggctccttggtggggttac	18	11	0	0			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr2:239186523C>A	ENST00000254657.3	-	2	334	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	PER2_ENST00000440245.1_Missense_Mutation_p.V19L|PER2_ENST00000355768.2_Missense_Mutation_p.V19L|PER2_ENST00000254658.3_Missense_Mutation_p.V19L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	19					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGGGCTCCACGGGCTCCTTG	0.612																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(55-57)Gtg>Ttg		period circadian clock 2							47	49	48					2																	239186523		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239186523C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.55G>T	2.37:g.239186523C>A	ENSP00000254657:p.Val19Leu					PER2_ENST00000254658.3_Missense_Mutation_p.V19L|PER2_ENST00000355768.2_Missense_Mutation_p.V19L|PER2_ENST00000440245.1_Missense_Mutation_p.V19L	p.V19L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	2	334	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	19					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.55G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	0.493	-0.874511	0.02550	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.43294	2.9;0.95;1.98;0.95;0.95	4.86	-9.73	0.00512	.	1.410840	0.04426	N	0.368353	T	0.24812	0.0602	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.001;0.0	T	0.20338	-1.0278	10	0.07813	T	0.8	0.1016	9.4303	0.38606	0.0:0.3399:0.4303:0.2298	.	19;19;19;19	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	L	19	ENSP00000254657:V19L;ENSP00000254658:V19L;ENSP00000397516:V19L;ENSP00000348013:V19L;ENSP00000405891:V19L	ENSP00000254657:V19L	V	-	1	0	PER2	238851262	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.949000	0.03893	-1.959000	0.01018	-1.391000	0.01154	GTG		0.612	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		3	27	1	0	6.4e-05	1	7.168e-05	3	27					A	239186523	C	A	239186523	3	1	38	1	0	0	0	0	1	0	0	0	11730	536	19	5	3800	5	PER2	2	239186523	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	30035962	239186523	4012850	4	704										
BOC	91653	broad.mit.edu	37	chr3	112987285	112987285	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	aaacaagagtggctggaggcCtccagaggtgagtgggcagg	18	7	0	3			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr3:112987285C>A	ENST00000495514.1	+	5	1220	c.516C>A	c.(514-516)gcC>gcA	p.A172A	BOC_ENST00000273395.4_Silent_p.A172A|BOC_ENST00000355385.3_Silent_p.A172A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	172	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCTGGAGGCCTCCAGAGGTG	0.617																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(514-516)gcC>gcA		BOC cell adhesion associated, oncogene regulated							56	50	52					3																	112987285		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112987285C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.516C>A	3.37:g.112987285C>A						BOC_ENST00000273395.4_Silent_p.A172A|BOC_ENST00000355385.3_Silent_p.A172A	p.A172A			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		5	1220	+			172			Ig-like C2-type 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.516C>A	CCDS2971.1																																																																																				0.617	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		3	15	1	0	0.00024832	1	0.000257517	3	15					A	112987285	C	A	112987285	2	1	38	1	0	0	0	0	0	0	0	1	1481	668	24	5		5	BOC	3	112987285	Silent	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08		112987285	85035145	5	705										
GABRA2	2555	broad.mit.edu	37	chr4	46252463	46252463	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ctgttgaaagttttctttgcTtcagctggcttgttttctgg	10	7	3	1			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr4:46252463T>G	ENST00000510861.1	-	10	1391	c.1218A>C	c.(1216-1218)gaA>gaC	p.E406D	GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D|GABRA2_ENST00000507069.1_Missense_Mutation_p.E466D|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	406					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTTCTTTGCTTCAGCTGGCT	0.403																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1216-1218)gaA>gaC		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						204	207	206					4																	46252463		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252463T>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1218A>C	4.37:g.46252463T>G	ENSP00000421828:p.Glu406Asp					GABRA2_ENST00000507069.1_Missense_Mutation_p.E466D|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406D|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406D|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406D|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411D	p.E406D			P47869	GBRA2_HUMAN			10	1391	-			406					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1218A>C	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781779	0.31502	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.96	3.58	0.41010	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.043351	0.85682	D	0.000000	T	0.75199	0.3817	L	0.33093	0.98	0.39836	D	0.973041	B;B	0.22480	0.04;0.07	B;B	0.25140	0.039;0.058	T	0.67719	-0.5598	10	0.27082	T	0.32	.	7.5695	0.27898	0.0:0.2263:0.0:0.7737	.	411;406	B7Z1H8;P47869	.;GBRA2_HUMAN	D	406;406;406;406;411;466	ENSP00000421828:E406D;ENSP00000421300:E406D;ENSP00000371033:E406D;ENSP00000348897:E406D;ENSP00000444409:E411D;ENSP00000427603:E466D	ENSP00000348897:E406D	E	-	3	2	GABRA2	45947220	0.995000	0.38212	1.000000	0.80357	0.932000	0.56968	0.289000	0.18957	1.085000	0.41206	0.533000	0.62120	GAA		0.403	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			25	144	0	0	0	1	0	25	144					G	46252463	T	G	46252463	3	3	38	1	0	0	0	0	1	0	0	0	6161	1606	56	5	141	5	GABRA2	4	46252463	Missense_Mutation	SNP	T	TCGA-QR-A70G-01B-11D-A35D-08		46252463	144901813	6	706										
NPY1R	4886	broad.mit.edu	37	chr4	164246696	164246696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	atatcattgctgtgaggtggCagagcaggaataacagattg	13	5	1	3			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr4:164246696C>G	ENST00000296533.2	-	3	1445	c.914G>C	c.(913-915)tGc>tCc	p.C305S	NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	305					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTGAGGTGGCAGAGCAGGAA	0.423																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(913-915)tGc>tCc		neuropeptide Y receptor Y1							89	96	94					4																	164246696		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246696C>G		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.914G>C	4.37:g.164246696C>G	ENSP00000354652:p.Cys305Ser					NPY1R_ENST00000509586.1_Missense_Mutation_p.C62S	p.C305S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1445	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	305					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.914G>C	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022262	0.75275	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.72835	-0.69;-0.69;1.41	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82762	-0.0297	10	0.48119	T	0.1	.	19.9311	0.97118	0.0:1.0:0.0:0.0	.	305	P25929	NPY1R_HUMAN	S	305;62;62	ENSP00000354652:C305S;ENSP00000427284:C62S;ENSP00000422963:C62S	ENSP00000354652:C305S	C	-	2	0	NPY1R	164466146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.714000	0.92807	0.655000	0.94253	TGC		0.423	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			6	47	0	0	0	1	0	6	47					G	164246696	C	G	164246696	3	3	38	1	0	0	0	0	1	0	0	0	10608	710	25	5	244	5	NPY1R	4	164246696	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	117994233	164246696	26907580	7	707										
KIAA0240	23506	broad.mit.edu	37	chr6	42832767	42832767	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	cccggccctgaggggcaccgGaaaacctcatccagatcgga	12	15	1	2			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr6:42832767G>T	ENST00000314073.5	+	13	2999	c.2823G>T	c.(2821-2823)cgG>cgT	p.R941R	GLTSCR1L_ENST00000394168.1_Silent_p.R941R			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	941																	AGGGGCACCGGAAAACCTCAT	0.547																																						ENST00000314073.5																			0											c.(2821-2823)cgG>cgT		GLTSCR1-like							62	63	63					6																	42832767		2203	4300	6503	SO:0001819	synonymous_variant	23506							g.chr6:42832767G>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2823G>T	6.37:g.42832767G>T						GLTSCR1L_ENST00000394168.1_Silent_p.R941R	p.R941R							13	2999	+								A1L3W2|Q5TFZ3|Q92514	Silent	SNP	ENST00000314073.5	37	c.2823G>T	CCDS34451.1																																																																																				0.547	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		3	34	1	0	0.00024832	1	0.000257517	3	34					T	42832767	G	T	42832767	2	4	38	1	0	0	0	0	0	0	0	1	8164	1161	41	5		5	KIAA0240	6	42832767	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		42832767	128282300	8	708										
SLC22A2	6582	broad.mit.edu	37	chr6	160645781	160645781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	atggtctcaggcaaagctttCcctttagtttctggaagcaa	9	9	2	0			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr6:160645781C>T	ENST00000366953.3	-	10	1815	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	519					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GCAAAGCTTTCCCTTTAGTTT	0.418																																						ENST00000366953.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(1555-1557)ggG>ggA		solute carrier family 22 (organic cation transporter), member 2							121	122	122					6																	160645781		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160645781C>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1557G>A	6.37:g.160645781C>T						SLC22A2_ENST00000491092.1_5'UTR	p.G519G	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	10	1815	-		Breast(66;0.000776)|Ovarian(120;0.0303)	519					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.1557G>A	CCDS5276.1																																																																																				0.418	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		23	70	0	0	0	1	0	23	70					T	160645781	C	T	160645781	2	4	38	1	0	0	0	0	0	0	0	1	14450	842	30	3		3	SLC22A2	6	160645781	Silent	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	117813014	160645781	10469286	9	709										
IGFBP3	3486	broad.mit.edu	37	chr7	45956263	45956263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ttccatttctctacggcaggGaccctggggatcaggaagga	13	10	2	0			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr7:45956263G>A	ENST00000275521.6	-	3	767	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P218S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	212	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CTACGGCAGGGACCCTGGGGA	0.468																																						ENST00000275521.6																			0				large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(634-636)Ccc>Tcc		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						148	133	138					7																	45956263		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956263G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.634C>T	7.37:g.45956263G>A	ENSP00000275521:p.Pro212Ser					IGFBP3_ENST00000381086.5_Missense_Mutation_p.P115S|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P218S	p.P212S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			3	767	-			212			Thyroglobulin type-1.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.634C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.617462|4.617462	0.87359|0.87359	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000417621	T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Thyroglobulin type-1 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73497|0.73497	0.3594|0.3594	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.992;0.992|.	T|T	0.74109|0.74109	-0.3771|-0.3771	10|5	0.56958|.	D|.	0.05|.	-32.6798|-32.6798	15.4189|15.4189	0.74995|0.74995	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	115;212;197|.	B3KWK7;P17936;B4DN53|.	.;IBP3_HUMAN;.|.	S|F	189;212;115;198;110;218;184;102|73	ENSP00000275521:P212S;ENSP00000370476:P115S;ENSP00000370473:P218S;ENSP00000389668:P102S|.	ENSP00000275521:P212S|.	P|S	-|-	1|2	0|0	IGFBP3|IGFBP3	45922788|45922788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	9.272000|9.272000	0.95707|0.95707	2.236000|2.236000	0.73375|0.73375	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.468	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		5	83	0	0	0	1	0	5	83					A	45956263	G	A	45956263	3	1	38	1	0	0	0	0	1	0	0	0	7580	1174	41	3	249	3	IGFBP3	7	45956263	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		45956263	113182400	10	710										
PTPN3	5774	broad.mit.edu	37	chr9	112182720	112182720	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ttactcttggtgcgggcttcGgttctgagaaacttcagaat	11	8	3	2	rs375004037		TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr9:112182720G>T	ENST00000374541.2	-	14	1401	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	PTPN3_ENST00000446349.1_Silent_p.R257R|PTPN3_ENST00000412145.1_Silent_p.R302R|PTPN3_ENST00000262539.3_Silent_p.R279R|PTPN3_ENST00000394827.3_5'Flank	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	433					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCGGGCTTCGGTTCTGAGAA	0.453																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(904-906)Cga>Aga		protein tyrosine phosphatase, non-receptor type 3							88	82	84					9																	112182720		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112182720G>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1297C>A	9.37:g.112182720G>T						PTPN3_ENST00000374541.2_Silent_p.R433R|PTPN3_ENST00000262539.3_Silent_p.R279R|PTPN3_ENST00000446349.1_Silent_p.R257R	p.R302R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			9	3457	-			433			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.904C>A	CCDS6776.1																																																																																				0.453	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			4	47	1	0	0.00909568	1	0.00909568	4	47					T	112182720	G	T	112182720	2	4	38	1	0	0	0	0	0	0	0	1	12789	1124	39	5		5	PTPN3	9	112182720	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		112182720	29030711	11	711										
MUC5B	727897	broad.mit.edu	37	chr11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	tcccggggaccacccacaccGccagagtgctgaccaccacc	9	20	0	2	rs373476136		TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr11:1272055G>A	ENST00000529681.1	+	31	14003	c.13945G>A	c.(13945-13947)Gcc>Acc	p.A4649T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4652T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612																																						ENST00000447027.1																			2	Substitution - Missense(2)	p.A4649T(1)|p.A4604T(1)	endometrium(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13954-13956)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming		C	THR/ALA	1,4241		0,1,2120	123	151	141		13945	-0.8	0	11		141	0,8448		0,0,4224	no	missense	MUC5B	NM_002458.2	58	0,1,6344	AA,AG,GG		0.0,0.0236,0.0079		4649/5763	1272055	1,12689	2121	4224	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272055G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13945G>A	11.37:g.1272055G>A	ENSP00000436812:p.Ala4649Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T	p.A4652T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14012	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4649			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13954G>A	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.668|3.668	-0.068133|-0.068133	0.07228|0.07228	2.36E-4|2.36E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637|ENST00000535652	T;T|.	0.15834|.	2.39;2.57|.	0.976|0.976	-0.754|-0.754	0.11065|0.11065	.|.	.|.	.|.	.|.	.|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.25235|.	0.121|.	B|.	0.12156|.	0.007|.	T|T	0.18366|0.18366	-1.0339|-1.0339	9|6	0.87932|0.45353	D|T	0|0.12	.|.	4.0397|4.0397	0.09745|0.09745	0.0:0.3403:0.4612:0.1985|0.0:0.3403:0.4612:0.1985	.|.	4652|.	E9PBJ0|.	.|.	T|H	4649;4652;4593|423	ENSP00000436812:A4649T;ENSP00000415793:A4652T|.	ENSP00000343037:A4593T|ENSP00000439776:R423H	A|R	+|+	1|2	0|0	MUC5B|MUC5B	1228631|1228631	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	-5.897000|-5.897000	0.00092|0.00092	-1.423000|-1.423000	0.02002|0.02002	-1.123000|-1.123000	0.02005|0.02005	GCC|CGC		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	11	0	0	0	1	0	11	11					A	1272055	G	A	1272055	3	1	38	1	0	0	0	0	1	0	0	0	9979	1087	38	1	14076	1	MUC5B	11	1272055	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		1272055	133734461	12	712										
MMP14	4323	broad.mit.edu	37	chr14	23311796	23311796	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ttctttgccgagggcttccaTggcgacagcacgcccttcga	11	14	1	0			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:23311796T>A	ENST00000311852.6	+	4	819	c.558T>A	c.(556-558)caT>caA	p.H186Q	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	186					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AGGGCTTCCATGGCGACAGCA	0.617																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(556-558)caT>caA		matrix metallopeptidase 14 (membrane-inserted)							99	79	86					14																	23311796		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311796T>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.558T>A	14.37:g.23311796T>A	ENSP00000308208:p.His186Gln					MMP14_ENST00000548162.1_3'UTR	p.H186Q	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	819	+	all_cancers(95;9.47e-05)		186					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.558T>A	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283259	0.80803	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	T;T	0.26957	1.7;1.7	5.67	-0.0364	0.13888	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	H	0.97315	3.98	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.66337	-0.5949	10	0.87932	D	0	.	9.4758	0.38871	0.0:0.5212:0.0:0.4788	.	186	P50281	MMP14_HUMAN	Q	186;192	ENSP00000308208:H186Q;ENSP00000446989:H192Q	ENSP00000308208:H186Q	H	+	3	2	MMP14	22381636	0.190000	0.23276	0.993000	0.49108	0.987000	0.75469	-0.385000	0.07379	0.019000	0.15079	0.533000	0.62120	CAT		0.617	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		11	32	0	0	0	1	0	11	32					A	23311796	T	A	23311796	3	1	38	1	0	0	0	0	1	0	0	0	9653	1461	51	5	572	5	MMP14	14	23311796	Missense_Mutation	SNP	T	TCGA-QR-A70G-01B-11D-A35D-08		23311796	84037744	13	713										
POLE2	5427	broad.mit.edu	37	chr14	50146494	50146494	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ggactgctgcttccaccacaGatcgttcaatcatgtttgat	8	11	2	2			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:50146494G>C	ENST00000216367.5	-	3	293	c.194C>G	c.(193-195)tCt>tGt	p.S65C	POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000539565.2_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000553805.2_Missense_Mutation_p.S65C	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	65					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TTCCACCACAGATCGTTCAAT	0.368																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(193-195)tCt>tGt		polymerase (DNA directed), epsilon 2, accessory subunit							100	85	90					14																	50146494		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50146494G>C	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.194C>G	14.37:g.50146494G>C	ENSP00000216367:p.Ser65Cys					POLE2_ENST00000553805.2_Missense_Mutation_p.S65C|POLE2_ENST00000216367.5_Missense_Mutation_p.S65C|POLE2_ENST00000554396.1_Missense_Mutation_p.S65C|POLE2_ENST00000556584.1_5'UTR	p.S65C	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN			3	412	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		65					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.194C>G	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875742	0.51695	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.32515	1.86;1.84;1.45	5.44	5.44	0.79542	DNA polymerase epsilon subunit B, N-terminal (1);	0.055833	0.64402	D	0.000001	T	0.32556	0.0833	L	0.45581	1.43	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.05289	-1.0894	10	0.49607	T	0.09	-30.9224	18.8619	0.92276	0.0:0.0:1.0:0.0	.	65	P56282	DPOE2_HUMAN	C	65	ENSP00000216367:S65C;ENSP00000446313:S65C;ENSP00000451621:S65C	ENSP00000216367:S65C	S	-	2	0	POLE2	49216244	0.963000	0.33076	1.000000	0.80357	0.812000	0.45895	5.184000	0.65070	2.537000	0.85549	0.655000	0.94253	TCT		0.368	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		12	20	0	0	0	1	0	12	20					C	50146494	G	C	50146494	3	2	38	1	0	0	0	0	1	0	0	0	12197	942	33	5	1457	5	POLE2	14	50146494	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	26834698	50146494	57203046	14	714										
KCNH5	27133	broad.mit.edu	37	chr14	63174996	63174996	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	gcggctctctacctggagttGgttcctctcagggtcaccct	11	14	3	0			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:63174996G>A	ENST00000322893.7	-	11	2465	c.2197C>T	c.(2197-2199)Caa>Taa	p.Q733*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	733					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCTGGAGTTGGTTCCTCTCA	0.557																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2197-2199)Caa>Taa		potassium voltage-gated channel, subfamily H (eag-related), member 5							112	102	105					14																	63174996		2203	4300	6503	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174996G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2197C>T	14.37:g.63174996G>A	ENSP00000321427:p.Gln733*					KCNH5_ENST00000420622.2_3'UTR	p.Q733*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2465	-			733					C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.2197C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443040	0.83993	.	.	ENSG00000140015	ENST00000322893	.	.	.	5.52	4.58	0.56647	.	0.171112	0.41500	D	0.000869	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.6405	0.51230	0.0:0.1332:0.7289:0.1379	.	.	.	.	X	733	.	ENSP00000321427:Q733X	Q	-	1	0	KCNH5	62244749	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	3.188000	0.50958	2.611000	0.88343	0.655000	0.94253	CAA		0.557	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		19	60	0	0	0	1	0	19	60					A	63174996	G	A	63174996	4	1	38	1	0	0	0	0	0	1	0	0	8035	1357	47	3	773	3	KCNH5	14	63174996	Nonsense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	13028502	63174996	44174544	15	715										
CCDC88C	440193	broad.mit.edu	37	chr14	91875056	91875056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ggtcaaattctgaatgcgaaGgttcacatcattgttgacgt	10	7	4	2			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr14:91875056G>A	ENST00000389857.6	-	3	303	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F|CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	73				L -> F (in Ref. 1; CQ719279). {ECO:0000305}.	protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGAATGCGAAGGTTCACATCA	0.458																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(217-219)Ctt>Ttt		coiled-coil domain containing 88C							172	178	176					14																	91875056		2027	4176	6203	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91875056G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.217C>T	14.37:g.91875056G>A	ENSP00000374507:p.Leu73Phe					CCDC88C_ENST00000389856.5_Missense_Mutation_p.L65F|CCDC88C_ENST00000553403.1_Missense_Mutation_p.L73F|CCDC88C_ENST00000554165.1_5'UTR	p.L73F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			3	303	-		all_cancers(154;0.0468)	73	L -> F (in Ref. 1; CQ719279).				Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.217C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360854	0.61403	.	.	ENSG00000015133	ENST00000389857;ENST00000541408;ENST00000389856;ENST00000553403	T;T;T	0.50001	1.55;0.76;0.76	5.02	5.02	0.67125	.	0.000000	0.32015	U	0.006711	T	0.71350	0.3329	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.948	T	0.75811	-0.3186	10	0.72032	D	0.01	-11.4815	18.2924	0.90135	0.0:0.0:1.0:0.0	.	73;73	Q9P219;G3V3S0	DAPLE_HUMAN;.	F	73;37;65;73	ENSP00000374507:L73F;ENSP00000374506:L65F;ENSP00000451392:L73F	ENSP00000374506:L65F	L	-	1	0	CCDC88C	90944809	1.000000	0.71417	0.997000	0.53966	0.105000	0.19272	8.022000	0.88759	2.501000	0.84356	0.650000	0.86243	CTT		0.458	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		4	30	0	0	0	1	0	4	30					A	91875056	G	A	91875056	3	1	38	1	0	0	0	0	1	0	0	0	2865	1000	35	3	5981	3	CCDC88C	14	91875056	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	28700060	91875056	15474484	16	716										
DNAH3	55567	broad.mit.edu	37	chr16	21098274	21098274	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	cttcacattctctgctaagcGcctgggtgcaggcacatcag	10	13	3	0			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr16:21098274G>C	ENST00000261383.3	-	19	2772	c.2773C>G	c.(2773-2775)Cgc>Ggc	p.R925G	DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	925	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTGCTAAGCGCCTGGGTGCA	0.463																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2773-2775)Cgc>Ggc		dynein, axonemal, heavy chain 3							253	229	237					16																	21098274		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21098274G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2773C>G	16.37:g.21098274G>C	ENSP00000261383:p.Arg925Gly					DNAH3_ENST00000415178.1_Missense_Mutation_p.R925G	p.R925G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	19	2772	-			925			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2773C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672397	0.67928	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61274	0.12;0.12	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.178143	0.38605	N	0.001635	T	0.63153	0.2487	L	0.52266	1.64	0.80722	D	1	P	0.49783	0.928	P	0.51385	0.668	T	0.55692	-0.8101	10	0.17369	T	0.5	.	19.5697	0.95407	0.0:0.0:1.0:0.0	.	925	Q8TD57	DYH3_HUMAN	G	925	ENSP00000261383:R925G;ENSP00000394245:R925G	ENSP00000261383:R925G	R	-	1	0	DNAH3	21005775	1.000000	0.71417	0.954000	0.39281	0.953000	0.61014	5.925000	0.70062	2.631000	0.89168	0.655000	0.94253	CGC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	211	0	0	0	1	0	4	211					C	21098274	G	C	21098274	3	2	38	1	0	0	0	0	1	0	0	0	4603	1087	38	5	9752	5	DNAH3	16	21098274	Missense_Mutation	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08		21098274	69256479	17	717										
PODNL1	79883	broad.mit.edu	37	chr19	14043665	14043665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	ccgatgtcgccgacccggagCcggttgtgcgccaggctgag	16	14	0	1			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:14043665C>T	ENST00000339560.5	-	8	1665	c.1392G>A	c.(1390-1392)cgG>cgA	p.R464R	PODNL1_ENST00000254320.3_Silent_p.R382R|PODNL1_ENST00000538517.2_Silent_p.R373R|PODNL1_ENST00000538371.2_Silent_p.R462R	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	464						proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGACCCGGAGCCGGTTGTGCG	0.692																																						ENST00000538517.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(1117-1119)cgG>cgA		podocan-like 1							14	18	17					19																	14043665		2194	4292	6486	SO:0001819	synonymous_variant	79883					proteinaceous extracellular matrix		g.chr19:14043665C>T	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.1392G>A	19.37:g.14043665C>T						PODNL1_ENST00000339560.5_Silent_p.R464R|PODNL1_ENST00000538371.2_Silent_p.R462R|PODNL1_ENST00000254320.3_Silent_p.R382R	p.R373R	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		6	1363	-			464			Leu-rich.		B7Z564|Q9H5G9	Silent	SNP	ENST00000339560.5	37	c.1119G>A	CCDS12300.1																																																																																				0.692	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		5	13	0	0	0	1	0	5	13					T	14043665	C	T	14043665	2	4	38	1	0	0	0	0	0	0	0	1	12179	726	26	3		3	PODNL1	19	14043665	Silent	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08		14043665	45085318	18	718										
STRN4	29888	broad.mit.edu	37	chr19	47228840	47228840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	gccagggaacgaatgccgtcGtagtgcgagcgcagggtgaa	17	9	0	1	rs148663953		TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:47228840G>A	ENST00000263280.6	-	10	1363	c.1314C>T	c.(1312-1314)taC>taT	p.Y438Y	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Silent_p.Y319Y|STRN4_ENST00000391910.3_Silent_p.Y445Y	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	438						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GAATGCCGTCGTAGTGCGAGC	0.607													G|||	1	0.000199681	0	0	5008	,	,		15420	0		0.001	False		,,,				2504	0					ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1333-1335)taC>taT		striatin, calmodulin binding protein 4		G	,	1,4405	2.1+/-5.4	0,1,2202	100	99	99		1335,1314	-1	1	19	dbSNP_134	99	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	,	445/761,438/754	47228840	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228840G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1314C>T	19.37:g.47228840G>A						STRN4_ENST00000539396.1_Silent_p.Y319Y|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.Y438Y	p.Y445Y			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1785	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	438					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1335C>T	CCDS12690.1																																																																																				0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			16	23	0	0	0	1	0	16	23					A	47228840	G	A	47228840	2	1	38	1	0	0	0	0	0	0	0	1	15330	1140	40	1		1	STRN4	19	47228840	Silent	SNP	G	TCGA-QR-A70G-01B-11D-A35D-08	33185175	47228840	11900143	19	719										
NCR1	9437	broad.mit.edu	37	chr19	55421398	55421398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	gcgacattgagaacaccagcCttgcacctgaagaccccacc	8	16	0	3			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr19:55421398C>T	ENST00000291890.4	+	5	693	c.655C>T	c.(655-657)Ctt>Ttt	p.L219F	NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000594765.1_Missense_Mutation_p.L219F	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	219					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAACACCAGCCTTGCACCTGA	0.433																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(655-657)Ctt>Ttt		natural cytotoxicity triggering receptor 1							188	190	190					19																	55421398		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55421398C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.655C>T	19.37:g.55421398C>T	ENSP00000291890:p.Leu219Phe					NCR1_ENST00000338835.5_Missense_Mutation_p.L219F|NCR1_ENST00000350790.5_Missense_Mutation_p.L124F|NCR1_ENST00000291890.4_Missense_Mutation_p.L219F|NCR1_ENST00000357397.5_Missense_Mutation_p.L112F|NCR1_ENST00000447255.1_Missense_Mutation_p.L219F|NCR1_ENST00000598576.1_Missense_Mutation_p.L207F	p.L219F			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	5	680	+			219					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.655C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	5.213	0.224786	0.09916	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00587	6.82;6.77;6.84;6.61;6.38	3.1	-4.38	0.03622	.	7.553560	0.00166	N	0.000005	T	0.00666	0.0022	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B;B	0.22746	0.069;0.035;0.009;0.074;0.009;0.032	B;B;B;B;B;B	0.27076	0.031;0.013;0.008;0.02;0.067;0.076	T	0.45512	-0.9256	10	0.45353	T	0.12	.	9.0201	0.36195	0.0:0.3298:0.0:0.6702	.	112;124;219;124;219;219	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	F	219;219;219;124;112	ENSP00000291890:L219F;ENSP00000404434:L219F;ENSP00000339515:L219F;ENSP00000344358:L124F;ENSP00000349972:L112F	ENSP00000291890:L219F	L	+	1	0	NCR1	60113210	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.187000	0.09656	-0.903000	0.03881	-0.496000	0.04628	CTT		0.433	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			16	135	0	0	0	1	0	16	135					T	55421398	C	T	55421398	3	4	38	1	0	0	0	0	1	0	0	0	10237	681	24	3	673	3	NCR1	19	55421398	Missense_Mutation	SNP	C	TCGA-QR-A70G-01B-11D-A35D-08	8192558	55421398	3707585	20	720										
MACROD2	140733	broad.mit.edu	37	chr20	15480461	15480461	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.06773823191734	2.3134328358209	0.694029850746269	1	1	0	agtcattgccctcaacaccaTtaaggaatggcttgccaaga	8	11	2	1			TCGA-QR-A70G-01B-11D-A35D-08	TCGA-QR-A70G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464e014a-8df6-4ba6-b0f7-128a1030f757	b19a1c1b-4ef5-4159-a158-e1c3ae0cc556	g.chr20:15480461T>C	ENST00000310348.4	+	8	614	c.614T>C	c.(613-615)aTt>aCt	p.I205T	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.I205T			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	205	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCAACACCATTAAGGAATGG	0.448																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(613-615)aTt>aCt		MACRO domain containing 2							137	127	130					20																	15480461		1959	4159	6118	SO:0001583	missense	140733							g.chr20:15480461T>C	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.614T>C	20.37:g.15480461T>C	ENSP00000309809:p.Ile205Thr					MACROD2_ENST00000310348.4_Missense_Mutation_p.I205T|MACROD2_ENST00000402914.1_5'UTR	p.I205T	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			8	1009	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	205			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.614T>C	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872620	0.33069	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.27402	1.67;1.67	5.86	3.61	0.41365	Appr-1-p processing (1);	0.134388	0.34386	N	0.004005	T	0.23649	0.0572	L	0.33753	1.03	0.80722	D	1	B;B	0.32467	0.007;0.372	B;B	0.35413	0.003;0.202	T	0.03423	-1.1038	10	0.42905	T	0.14	-1.0966	8.9465	0.35762	0.0:0.2111:0.0:0.7889	.	205;205	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	T	205	ENSP00000217246:I205T;ENSP00000309809:I205T	ENSP00000217246:I205T	I	+	2	0	MACROD2	15428461	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	1.047000	0.30367	0.482000	0.27582	-0.263000	0.10527	ATT		0.448	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		20	26	0	0	0	1	0	20	26					C	15480461	T	C	15480461	3	2	38	1	0	0	0	0	1	0	0	0	9146	1493	52	4	644	4	MACROD2	20	15480461	Missense_Mutation	SNP	T	TCGA-QR-A70G-01B-11D-A35D-08		15480461	47545059	21	721										
RAPH1	65059	broad.mit.edu	37	chr2	204354775	204354775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gagcaaagatcagccatcaaGgcatccagatccacagtctc	8	13	3	2			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:204354775G>A	ENST00000319170.5	-	4	563	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A|RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	88					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCCATCAAGGCATCCAGAT	0.393																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(262-264)gcC>gcT		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							120	117	118					2																	204354775		2203	4299	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204354775G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.264C>T	2.37:g.204354775G>A						RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A	p.A88A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			4	563	-			88					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.264C>T	CCDS2359.1																																																																																				0.393	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		4	111	0	0	0	1	0	4	111					A	204354775	G	A	204354775	2	1	39	1	0	0	0	0	0	0	0	1	13050	987	35	3		3	RAPH1	2	204354775	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		204354775	38844598	1	722										
IHH	3549	broad.mit.edu	37	chr2	219924911	219924911	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	tcggcgcctgtgttctcctcGtccttgaagatgatgtctgg	12	11	2	3			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:219924911G>C	ENST00000295731.6	-	1	278	c.279C>G	c.(277-279)gaC>gaG	p.D93E	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	93					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTCTCCTCGTCCTTGAAGA	0.657																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(277-279)gaC>gaG		indian hedgehog							63	63	63					2																	219924911		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219924911G>C	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.279C>G	2.37:g.219924911G>C	ENSP00000295731:p.Asp93Glu						p.D93E	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	278	-		Renal(207;0.0915)	93					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.279C>G	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674368	0.67928	.	.	ENSG00000163501	ENST00000295731	D	0.99571	-6.19	4.22	3.32	0.38043	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.054006	0.64402	N	0.000001	D	0.99468	0.9811	M	0.91818	3.245	0.45554	D	0.998505	D	0.61697	0.99	P	0.56216	0.794	D	0.98905	1.0778	10	0.87932	D	0	-10.2086	9.8323	0.40950	0.0:0.1513:0.6925:0.1562	.	93	Q14623	IHH_HUMAN	E	93	ENSP00000295731:D93E	ENSP00000295731:D93E	D	-	3	2	IHH	219633155	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.802000	0.27069	0.944000	0.37579	0.555000	0.69702	GAC		0.657	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		22	72	0	0	0	1	0	22	72					C	219924911	G	C	219924911	3	2	39	1	0	0	0	0	1	0	0	0	7607	1136	40	5	968	5	IHH	2	219924911	Missense_Mutation	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08	15570136	219924911	23274462	2	723										
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	9	16	2	0	rs376418550	byFrequency	TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40	45	44					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	40	0	0	0	1	0	3	40					C	79792085	G	C	79792085	3	2	39	1	0	0	0	0	1	0	0	0	1460	962	34	5	1422	5	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		79792085	111362191	3	724										
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0	0	5008	,	,		16269	0		0.001	False		,,,				2504	0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	102	1	0	3.59834e-05	1	3.7619e-05	5	102					T	140553994	G	T	140553994	2	4	39	1	0	0	0	0	0	0	0	1	11547	1132	40	5		5	PCDHB7	5	140553994	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		140553994	40361266	4	725										
NUDCD2	134492	broad.mit.edu	37	chr5	162886940	162886940	+	Silent	SNP	G	G	T													0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	ccgcactggatatcctgggcGcgcgtgcctggcggcacctg					rs141206788		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:162886940G>T	ENST00000302764.4	-	1	206	c.117C>A	c.(115-117)cgC>cgA	p.R39R	HMMR_ENST00000358715.3_5'Flank|HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.R39R|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000519395.1_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	39	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TATCCTGGGCGCGCGTGCCTG	0.672																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(115-117)cgC>cgA		NudC domain containing 2							56	70	65					5																	162886940		2202	4300	6502	SO:0001819	synonymous_variant	134492					intracellular		g.chr5:162886940G>T	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.117C>A	5.37:g.162886940G>T						NUDCD2_ENST00000517501.1_Silent_p.R39R	p.R39R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	206	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	39			CS.		B2R4V0	Silent	SNP	ENST00000302764.4	37	c.117C>A	CCDS4361.1																																																																																				0.672	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		57	82	1	0	1.74971e-23	1	1.91635e-23	57	82					T	162886940	G	T	162886940	2	4	39	1	0	0	0	0	0	0	0	1	10723	1074	38	5		5	NUDCD2	5	162886940	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08	22332946	162886940	18028320	5	726	5	2								
NUDCD2	134492	broad.mit.edu	37	chr5	162886941	162886941	+	Missense_Mutation	SNP	C	C	T													0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	cgcactggatatcctgggcgCgcgtgcctggcggcacctga							TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:162886941C>T	ENST00000302764.4	-	1	205	c.116G>A	c.(115-117)cGc>cAc	p.R39H	HMMR_ENST00000358715.3_5'Flank|HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39H|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000519395.1_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	39	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATCCTGGGCGCGCGTGCCTGG	0.672																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(115-117)cGc>cAc		NudC domain containing 2							57	70	66					5																	162886941		2202	4300	6502	SO:0001583	missense	134492					intracellular		g.chr5:162886941C>T	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.116G>A	5.37:g.162886941C>T	ENSP00000304854:p.Arg39His					NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39H	p.R39H	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	205	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	39			CS.		B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	c.116G>A	CCDS4361.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029188	0.35797	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.14516	2.5;2.5	5.94	5.07	0.68467	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.219555	0.48286	D	0.000195	T	0.16085	0.0387	L	0.53561	1.675	0.30303	N	0.789241	B	0.23937	0.094	B	0.10450	0.005	T	0.05131	-1.0904	10	0.72032	D	0.01	-16.82	14.1737	0.65527	0.2727:0.7273:0.0:0.0	.	39	Q8WVJ2	NUDC2_HUMAN	H	39	ENSP00000304854:R39H;ENSP00000430347:R39H	ENSP00000304854:R39H	R	-	2	0	NUDCD2	162819519	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	4.768000	0.62293	1.502000	0.48669	-0.188000	0.12872	CGC		0.672	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		56	81	0	0	0	1	0	56	81					T	162886941	C	T	162886941	3	4	39	1	0	0	0	0	1	0	0	0	10723	768	27	1	373	1	NUDCD2	5	162886941	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08	1	162886941	18028319	6	727	5	2								
ETV7	51513	broad.mit.edu	37	chr6	36343733	36343733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	tcgaacccgtgctccgcggtGcatggcagagagtactcctg	13	13	0	1			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr6:36343733G>A	ENST00000340181.4	-	3	463	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Silent_p.C74C|ETV7_ENST00000339796.5_Silent_p.C74C	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	74	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCTCCGCGGTGCATGGCAGAG	0.652																																						ENST00000339796.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(220-222)tgC>tgT		ets variant 7							96	77	83					6																	36343733		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36343733G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.222C>T	6.37:g.36343733G>A						ETV7_ENST00000340181.4_Silent_p.C74C|ETV7_ENST00000373737.4_Silent_p.C74C|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron	p.C74C	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN			3	1067	-			74			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.222C>T	CCDS4819.1																																																																																				0.652	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		22	33	0	0	0	1	0	22	33					A	36343733	G	A	36343733	2	1	39	1	0	0	0	0	0	0	0	1	5284	1311	46	3		3	ETV7	6	36343733	Silent	SNP	G	TCGA-QR-A70H-01A-12D-A35D-08		36343733	134771334	7	728										
CAMK2B	816	broad.mit.edu	37	chr7	44273998	44273998	+	Frame_Shift_Del	DEL	A	A	-													0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gagctcagtaccagggcggcAggaggaagcgtccctttggg							TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr7:44273998delA	ENST00000395749.2	-	15	1198	c.1122delT	c.(1120-1122)cctfs	p.P374fs	CAMK2B_ENST00000358707.3_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000502837.2_Frame_Shift_Del_p.P245fs|CAMK2B_ENST00000440254.2_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000350811.3_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000258682.6_Frame_Shift_Del_p.P349fs|CAMK2B_ENST00000457475.1_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000395747.2_Frame_Shift_Del_p.P350fs	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	374					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCAGGGCGGCAGGAGGAAGCG	0.617																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1120-1122)ccfs		calcium/calmodulin-dependent protein kinase II beta							99	88	92					7																	44273998		2201	4293	6494	SO:0001589	frameshift_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44273998delA	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1122delT	7.37:g.44273998delA	ENSP00000379098:p.Pro374fs					CAMK2B_ENST00000502837.2_Frame_Shift_Del_p.P245fs|CAMK2B_ENST00000457475.1_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000258682.6_Frame_Shift_Del_p.P349fs|CAMK2B_ENST00000440254.2_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000395747.2_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000358707.3_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000347193.4_Intron	p.P374fs	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			15	1198	-			374					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Del	DEL	ENST00000395749.2	37	c.1122delT	CCDS5483.1																																																																																				0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		2	4						2	4	---	---	---	---	-	44273998	A	-	44273998	7	5	39	1	0	1	0	1	0	0	0	0	2600	175	7	0	914	0	CAMK2B	7	44273998	Frame_Shift_Del	DEL	A	TCGA-QR-A70H-01A-12D-A35D-08		44273998	114864665	8	729										
GPR124	25960	broad.mit.edu	37	chr8	37697651	37697651	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	ccccgcaggtgggcatcaccCtgcactactcctccctatcc	7	20	1	0			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr8:37697651C>G	ENST00000412232.2	+	17	2537	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	GPR124_ENST00000315215.7_Missense_Mutation_p.L625V	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	842					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGCATCACCCTGCACTACTC	0.652																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1873-1875)Ctg>Gtg		G protein-coupled receptor 124							60	52	55					8																	37697651		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697651C>G	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2524C>G	8.37:g.37697651C>G	ENSP00000406367:p.Leu842Val					GPR124_ENST00000412232.2_Missense_Mutation_p.L842V	p.L625V			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		14	2236	+			842					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1873C>G	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823331	0.71143	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.51817	0.69;0.69	3.95	3.95	0.45737	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000005	T	0.70509	0.3232	M	0.89095	3.005	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75926	-0.3145	10	0.87932	D	0	-13.8914	10.7437	0.46168	0.0:0.8962:0.0:0.1038	.	625;842	Q96PE1-2;Q96PE1	.;GP124_HUMAN	V	835;625;842	ENSP00000323508:L625V;ENSP00000406367:L842V	ENSP00000323508:L625V	L	+	1	2	GPR124	37816809	0.927000	0.31430	1.000000	0.80357	0.653000	0.38743	1.349000	0.33998	2.192000	0.70111	0.655000	0.94253	CTG		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			6	44	0	0	0	1	0	6	44					G	37697651	C	G	37697651	3	3	39	1	0	0	0	0	1	0	0	0	6638	680	24	5	2569	5	GPR124	8	37697651	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08		37697651	108666371	9	730										
MTFR1	9650	broad.mit.edu	37	chr8	66617057	66617057	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gaagaccccagcgctggcaaAtgaggaagcactgcagaaga	13	10	0	4			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr8:66617057A>G	ENST00000262146.4	+	5	536	c.410A>G	c.(409-411)aAt>aGt	p.N137S	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	137					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GCGCTGGCAAATGAGGAAGCA	0.493																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(409-411)aAt>aGt		mitochondrial fission regulator 1							50	51	50					8																	66617057		2203	4300	6503	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66617057A>G		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"likely ortholog of chicken chondrocyte protein with a poly proline region"					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.410A>G	8.37:g.66617057A>G	ENSP00000262146:p.Asn137Ser					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S	p.N137S	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		5	536	+			137					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.410A>G	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.38|10.38	1.334842|1.334842	0.24253|0.24253	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.43688	.|0.94;0.94	5.39|5.39	3.04|3.04	0.35103|0.35103	.|.	.|0.232106	.|0.49916	.|N	.|0.000124	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.33245|0.33245	0.995|0.995	0.40849|0.40849	D|D	0.983738|0.983738	.|B;B;D;B	.|0.53312	.|0.289;0.156;0.959;0.153	.|B;B;P;B	.|0.52823	.|0.344;0.158;0.71;0.151	T|T	0.09314|0.09314	-1.0680|-1.0680	5|10	.|0.29301	.|T	.|0.29	-18.2132|-18.2132	8.8586|8.8586	0.35242|0.35242	0.8456:0.0:0.1544:0.0|0.8456:0.0:0.1544:0.0	.|.	.|137;121;104;137	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	V|S	95|121;137;104	.|ENSP00000262146:N137S;ENSP00000391502:N104S	.|ENSP00000262146:N137S	M|N	+|+	1|2	0|0	MTFR1|MTFR1	66779611|66779611	0.998000|0.998000	0.40836|0.40836	0.020000|0.020000	0.16555|0.16555	0.299000|0.299000	0.27559|0.27559	3.773000|3.773000	0.55333|0.55333	0.372000|0.372000	0.24591|0.24591	0.460000|0.460000	0.39030|0.39030	ATG|AAT		0.493	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		38	34	0	0	0	1	0	38	34					G	66617057	A	G	66617057	3	3	39	1	0	0	0	0	1	0	0	0	9925	101	4	4	424	4	MTFR1	8	66617057	Missense_Mutation	SNP	A	TCGA-QR-A70H-01A-12D-A35D-08	28919406	66617057	79746965	10	731										
PRUNE2	158471	broad.mit.edu	37	chr9	79322065	79322065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	tctggattcatcctcagcaaCgtggcagttggccacctgga	11	12	3	0			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr9:79322065C>T	ENST00000376718.3	-	8	5248	c.5125G>A	c.(5125-5127)Gtt>Att	p.V1709I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.V1350I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1709					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTCAGCAACGTGGCAGTTG	0.443																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4048-4050)Gtt>Att		prune homolog 2 (Drosophila)							97	82	86					9																	79322065		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322065C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5125G>A	9.37:g.79322065C>T	ENSP00000365908:p.Val1709Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1709I	p.V1350I			Q8WUY3	PRUN2_HUMAN			8	5248	-			1709					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4048G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.066|0.066	-1.213072|-1.213072	0.01555|0.01555	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.46819	.|0.86;0.86	5.56|5.56	2.72|2.72	0.32119|0.32119	.|.	.|1.236560	.|0.05826	.|N	.|0.616587	T|T	0.27594|0.27594	0.0678|0.0678	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.06405	.|0.002	T|T	0.23976|0.23976	-1.0173|-1.0173	5|10	.|0.09338	.|T	.|0.73	0.3567|0.3567	3.7712|3.7712	0.08642|0.08642	0.1356:0.588:0.131:0.1455|0.1356:0.588:0.131:0.1455	.|.	.|1709	.|Q8WUY3	.|PRUN2_HUMAN	H|I	1030|1709;1350;1708	.|ENSP00000365908:V1709I;ENSP00000397425:V1350I	.|ENSP00000365908:V1709I	R|V	-|-	2|1	0|0	PRUNE2|PRUNE2	78511885|78511885	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	0.591000|0.591000	0.23969|0.23969	0.302000|0.302000	0.22762|0.22762	-0.739000|-0.739000	0.03532|0.03532	CGT|GTT		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		28	32	0	0	0	1	0	28	32					T	79322065	C	T	79322065	3	4	39	1	0	0	0	0	1	0	0	0	12641	536	19	1	4189	1	PRUNE2	9	79322065	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08		79322065	61891366	11	732										
HNRNPUL2	221092	broad.mit.edu	37	chr11	62488846	62488846	+	Frame_Shift_Del	DEL	A	A	-													0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	actgggaggcttgctgaactAaaaggtctcggcttttgggg							TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr11:62488846delA	ENST00000301785.5	-	9	1724	c.1532delT	c.(1531-1533)ttafs	p.L511fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.L511fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	511						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCTGAACTAAAAGGTCTCG	0.413																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1531-1533)tafs		heterogeneous nuclear ribonucleoprotein U-like 2							172	178	176					11																	62488846		1856	4094	5950	SO:0001589	frameshift_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62488846delA		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1532delT	11.37:g.62488846delA	ENSP00000301785:p.Leu511fs					RP11-831H9.16_ENST00000403734.2_Frame_Shift_Del_p.L511fs	p.L511fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			9	1724	-			511					Q8N3B3	Frame_Shift_Del	DEL	ENST00000301785.5	37	c.1532delT	CCDS41659.1																																																																																				0.413	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		77	144						77	144	---	---	---	---	-	62488846	A	-	62488846	7	5	39	1	0	1	0	1	0	0	0	0	7275	372	13	0	735	0	HNRNPUL2	11	62488846	Frame_Shift_Del	DEL	A	TCGA-QR-A70H-01A-12D-A35D-08		62488846	72517670	12	733										
SCYL2	55681	broad.mit.edu	37	chr12	100722992	100722992	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	ctatcaggtatttacaaatgTacttttactcataagaagtt	5	6	2	1			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr12:100722992T>C	ENST00000360820.2	+	13	2093	c.1656T>C	c.(1654-1656)tgT>tgC	p.C552C		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	552					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTACAAATGTACTTTTACTC	0.313																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1654-1656)tgT>tgC		SCY1-like 2 (S. cerevisiae)							54	57	56					12																	100722992		2203	4299	6502	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100722992T>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1656T>C	12.37:g.100722992T>C							p.C552C	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			13	2093	+			552					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1656T>C	CCDS9076.1																																																																																				0.313	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		4	58	0	0	0	1	0	4	58					C	100722992	T	C	100722992	2	2	39	1	0	0	0	0	0	0	0	1	13948	1644	57	4		4	SCYL2	12	100722992	Silent	SNP	T	TCGA-QR-A70H-01A-12D-A35D-08		100722992	33128903	13	734										
BRCA2	675	broad.mit.edu	37	chr13	32968858	32968858	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	tcgtctatttgtcagacgaaTgttacaatttactggcaata	7	7	2	1			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr13:32968858T>C	ENST00000380152.3	+	25	9522	c.9289T>C	c.(9289-9291)Tgt>Cgt	p.C3097R	BRCA2_ENST00000544455.1_Missense_Mutation_p.C3097R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3097					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCAGACGAATGTTACAATTT	0.353			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9289-9291)Tgt>Cgt	Homologous recombination	breast cancer 2, early onset							72	71	71					13																	32968858		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32968858T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9289T>C	13.37:g.32968858T>C	ENSP00000369497:p.Cys3097Arg	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.C3097R	p.C3097R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	25	9516	+		Lung SC(185;0.0262)	3097					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.9289T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	6.451	0.451382	0.12223	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.81579	-1.51;-1.51	5.9	2.01	0.26516	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.621296	0.19246	N	0.119048	T	0.80053	0.4553	M	0.72479	2.2	0.24160	N	0.995665	D	0.57899	0.981	P	0.51806	0.68	T	0.70296	-0.4911	10	0.52906	T	0.07	.	2.3553	0.04294	0.3894:0.0716:0.1223:0.4166	.	3097	P51587	BRCA2_HUMAN	R	3097	ENSP00000369497:C3097R;ENSP00000439902:C3097R	ENSP00000369497:C3097R	C	+	1	0	BRCA2	31866858	0.877000	0.30153	0.338000	0.25549	0.199000	0.23934	0.403000	0.20982	0.112000	0.17975	0.460000	0.39030	TGT		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		39	76	0	0	0	1	0	39	76					C	32968858	T	C	32968858	3	2	39	1	0	0	0	0	1	0	0	0	1499	1464	51	4	9383	4	BRCA2	13	32968858	Missense_Mutation	SNP	T	TCGA-QR-A70H-01A-12D-A35D-08		32968858	82201020	14	735										
GLG1	2734	broad.mit.edu	37	chr16	74502950	74502950	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	cggtcgtgctcaggcagatcAccacgtccaccctgcagacg	11	16	2	2			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr16:74502950A>C	ENST00000422840.2	-	17	2329	c.2330T>G	c.(2329-2331)gTg>gGg	p.V777G	GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000447066.2_Missense_Mutation_p.V766G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	777					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGGCAGATCACCACGTCCAC	0.622																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(2329-2331)gTg>gGg		golgi glycoprotein 1							55	49	51					16																	74502950		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74502950A>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2330T>G	16.37:g.74502950A>C	ENSP00000405984:p.Val777Gly					GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000447066.2_Missense_Mutation_p.V766G	p.V777G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			17	2329	-			777					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.2330T>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884162	0.91814	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.61703	1.905	0.80722	D	1	D;D;D	0.65815	0.972;0.989;0.995	D;P;P	0.68039	0.955;0.736;0.828	T	0.78879	-0.2030	9	0.87932	D	0	-6.6199	15.9855	0.80147	1.0:0.0:0.0:0.0	.	777;777;766	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	G	777;766;777	.	ENSP00000205061:V777G	V	-	2	0	GLG1	73060451	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.335000	0.96500	2.180000	0.69256	0.383000	0.25322	GTG		0.622	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		15	27	0	0	0	1	0	15	27					C	74502950	A	C	74502950	3	2	39	1	0	0	0	0	1	0	0	0	6436	159	6	5	1329	5	GLG1	16	74502950	Missense_Mutation	SNP	A	TCGA-QR-A70H-01A-12D-A35D-08		74502950	15851803	15	736										
MLLT6	4302	broad.mit.edu	37	chr17	36873756	36873756	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gggctgtctgcagcacccctCtctcctccagcctcctgggg	11	18	2	0			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr17:36873756C>T	ENST00000325718.7	+	11	1814	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	575					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCACCCCTCTCTCCTCCAG	0.657			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1723-1725)Ctc>Ttc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							47	50	49					17																	36873756		2203	4299	6502	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873756C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1723C>T	17.37:g.36873756C>T	ENSP00000316426:p.Leu575Phe					CTB-58E17.9_ENST00000579499.1_RNA	p.L575F	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			11	1814	+	Breast(7;4.43e-21)		575					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1723C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662992	0.88251	.	.	ENSG00000108292	ENST00000325718	T	0.13657	2.57	4.93	4.93	0.64822	.	0.158384	0.43110	D	0.000606	T	0.34978	0.0916	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.991	T	0.04005	-1.0985	10	0.72032	D	0.01	.	16.8774	0.86055	0.0:1.0:0.0:0.0	.	29;575	Q96I32;P55198	.;AF17_HUMAN	F	575	ENSP00000316426:L575F	ENSP00000316426:L575F	L	+	1	0	MLLT6	34127282	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	4.712000	0.61888	2.561000	0.86390	0.563000	0.77884	CTC		0.657	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		25	61	0	0	0	1	0	25	61					T	36873756	C	T	36873756	3	4	39	1	0	0	0	0	1	0	0	0	9630	913	32	3	1765	3	MLLT6	17	36873756	Missense_Mutation	SNP	C	TCGA-QR-A70H-01A-12D-A35D-08		36873756	44321454	16	737										
ZNF77	58492	broad.mit.edu	37	chr19	2936578	2936578	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gtgttatcaaatctccaattTtctccaaaaatagaccagga	5	9	3	1			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr19:2936578T>G	ENST00000314531.4	-	3	347	c.255A>C	c.(253-255)gaA>gaC	p.E85D	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCAATTTTCTCCAAAAA	0.468																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(253-255)gaA>gaC		zinc finger protein 77							83	86	85					19																	2936578		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2936578T>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.255A>C	19.37:g.2936578T>G	ENSP00000319053:p.Glu85Asp						p.E85D	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	3	347	-			85			KRAB.		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.255A>C	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	T	6.760	0.509122	0.12883	.	.	ENSG00000175691	ENST00000314531	T	0.09073	3.02	2.52	0.228	0.15364	Krueppel-associated box (1);	.	.	.	.	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B	0.27498	0.18	B	0.14578	0.011	T	0.40997	-0.9533	9	0.38643	T	0.18	.	2.0317	0.03530	0.26:0.1566:0.0:0.5834	.	85	Q15935	ZNF77_HUMAN	D	85	ENSP00000319053:E85D	ENSP00000319053:E85D	E	-	3	2	ZNF77	2887578	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.166000	0.16583	-0.029000	0.13827	-0.604000	0.04097	GAA		0.468	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		25	46	0	0	0	1	0	25	46					G	2936578	T	G	2936578	3	3	39	1	0	0	0	0	1	0	0	0	18139	1838	64	5	1390	5	ZNF77	19	2936578	Missense_Mutation	SNP	T	TCGA-QR-A70H-01A-12D-A35D-08		2936578	56192405	17	738										
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													0.0588235294117647	1	1	1.12741312741313	0	1.97297297297297	1	1	0	gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		3	5						3	5	---	---	---	---	-	38079978	GCA	-	38079976	7	5	39	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-QR-A70H-01A-12D-A35D-08		38079976	117190584	18	739										
OBSCN	84033	broad.mit.edu	37	chr1	228464238	228464238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggaggtgcagctgtcgcatgCggacgtggatggcagctgga	19	8	0	0			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr1:228464238C>T	ENST00000422127.1	+	22	6352	c.6308C>T	c.(6307-6309)gCg>gTg	p.A2103V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A2103V|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A950V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A2478V|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2103	Ig-like 21.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTCGCATGCGGACGTGGAT	0.692																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7432-7434)gCg>gTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							28	36	33					1																	228464238		2164	4258	6422	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228464238C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6308C>T	1.37:g.228464238C>T	ENSP00000409493:p.Ala2103Val					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2103V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A950V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2103V	p.A2478V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			26	7507	+		Prostate(94;0.0405)	1469			Ig-like 24.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7433C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382574	0.25031	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.04862	3.54;3.54;3.54	5.14	2.05	0.26809	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.912604	0.09243	N	0.828864	T	0.10723	0.0262	L	0.48642	1.525	0.20403	N	0.999903	P;D	0.69078	0.87;0.997	B;P	0.55345	0.069;0.774	T	0.28004	-1.0057	10	0.41790	T	0.15	.	2.7294	0.05223	0.4473:0.2988:0.1614:0.0926	.	2103;2103	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	2103;2103;950	ENSP00000284548:A2103V;ENSP00000409493:A2103V;ENSP00000352613:A950V	ENSP00000284548:A2103V	A	+	2	0	OBSCN	226530861	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.031000	0.13710	0.534000	0.28695	0.549000	0.68633	GCG		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	43	0	0	0	1	0	3	43					T	228464238	C	T	228464238	3	4	40	1	0	0	0	0	1	0	0	0	10812	768	27	1	6390	1	OBSCN	1	228464238	Missense_Mutation	SNP	C	TCGA-QR-A70I-01A-11D-A35D-08		228464238	20786383	1	740										
AKAP9	10142	broad.mit.edu	37	chr7	91623993	91623993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cattataacccagctcactgCtaatttacaacaagcaagaa	4	11	1	1			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr7:91623993C>A	ENST00000359028.2	+	7	896	c.671C>A	c.(670-672)gCt>gAt	p.A224D	AKAP9_ENST00000394564.1_Missense_Mutation_p.A212D|AKAP9_ENST00000358100.2_Missense_Mutation_p.A224D|AKAP9_ENST00000356239.3_Missense_Mutation_p.A212D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	224	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGCTCACTGCTAATTTACAA	0.313			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(670-672)gCt>gAt		A kinase (PRKA) anchor protein 9							56	57	56					7																	91623993		2203	4296	6499	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91623993C>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.671C>A	7.37:g.91623993C>A	ENSP00000351922:p.Ala224Asp					AKAP9_ENST00000356239.3_Missense_Mutation_p.A212D|AKAP9_ENST00000394564.1_Missense_Mutation_p.A212D|AKAP9_ENST00000358100.2_Missense_Mutation_p.A224D	p.A224D			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	896	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		224			Gln-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.671C>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.948720	0.73787	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.94	4.94	0.65067	.	0.000000	0.35838	N	0.002956	T	0.51584	0.1683	N	0.19112	0.55	0.43824	D	0.996397	D;D;D;D	0.76494	0.999;0.999;0.999;0.996	D;D;D;P	0.78314	0.971;0.991;0.976;0.866	T	0.58381	-0.7646	10	0.66056	D	0.02	.	18.5538	0.91075	0.0:1.0:0.0:0.0	.	212;212;224;212	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	D	212;224;224;224;224;212;163	ENSP00000348573:A212D;ENSP00000351922:A224D;ENSP00000350813:A224D;ENSP00000378065:A212D;ENSP00000391704:A163D	ENSP00000348573:A212D	A	+	2	0	AKAP9	91461929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.440000	0.82611	0.655000	0.94253	GCT		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	44	1	0	0.004672	1	0.00503138	3	44					A	91623993	C	A	91623993	3	1	40	1	0	0	0	0	1	0	0	0	459	797	28	5	657	5	AKAP9	7	91623993	Missense_Mutation	SNP	C	TCGA-QR-A70I-01A-11D-A35D-08		91623993	67514670	2	741										
VCPIP1	80124	broad.mit.edu	37	chr8	67577499	67577499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	catttgccaccagtggacctAgaattagttctgtctccatc	7	12	2	1			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr8:67577499A>G	ENST00000310421.4	-	1	1953	c.1695T>C	c.(1693-1695)tcT>tcC	p.S565S	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	565					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAGTGGACCTAGAATTAGTTC	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1693-1695)tcT>tcC		valosin containing protein (p97)/p47 complex interacting protein 1							157	136	143					8																	67577499		2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577499A>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1695T>C	8.37:g.67577499A>G							p.S565S	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1953	-		Lung NSC(129;0.142)|all_lung(136;0.227)	565					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.1695T>C	CCDS6192.1																																																																																				0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			5	160	0	0	0	1	0	5	160					G	67577499	A	G	67577499	2	3	40	1	0	0	0	0	0	0	0	1	17138	407	15	4		4	VCPIP1	8	67577499	Silent	SNP	A	TCGA-QR-A70I-01A-11D-A35D-08		67577499	78786523	3	742										
JAK2	3717	broad.mit.edu	37	chr9	5069080	5069080	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaaaaatgagaatgaagagtAcaacctcagtgggacaaaga	10	5	1	4			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr9:5069080A>C	ENST00000381652.3	+	11	1879	c.1385A>C	c.(1384-1386)tAc>tCc	p.Y462S	JAK2_ENST00000539801.1_Missense_Mutation_p.Y462S|JAK2_ENST00000544510.1_Missense_Mutation_p.Y313S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	462	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATGAAGAGTACAACCTCAGT	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1384-1386)tAc>tCc		Janus kinase 2							76	77	77					9																	5069080		2203	4299	6502	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5069080A>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1385A>C	9.37:g.5069080A>C	ENSP00000371067:p.Tyr462Ser					JAK2_ENST00000544510.1_Missense_Mutation_p.Y313S|JAK2_ENST00000539801.1_Missense_Mutation_p.Y462S	p.Y462S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	11	1879	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	462			SH2; atypical.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1385A>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106533	0.37145	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.90069	-2.61;-2.61;-2.61	5.02	2.24	0.28232	SH2 motif (4);	0.182599	0.49916	D	0.000140	D	0.87450	0.6180	M	0.62723	1.935	0.45318	D	0.998317	B	0.22480	0.07	B	0.32583	0.148	D	0.84949	0.0870	10	0.87932	D	0	-5.9771	11.045	0.47852	0.7394:0.0:0.0:0.2606	.	462	O60674	JAK2_HUMAN	S	462;462;313	ENSP00000440387:Y462S;ENSP00000371067:Y462S;ENSP00000443103:Y313S	ENSP00000371067:Y462S	Y	+	2	0	JAK2	5059080	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	1.520000	0.35899	0.708000	0.31955	0.482000	0.46254	TAC		0.328	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			19	34	0	0	0	1	0	19	34					C	5069080	A	C	5069080	3	2	40	1	0	0	0	0	1	0	0	0	7938	391	14	5	1419	5	JAK2	9	5069080	Missense_Mutation	SNP	A	TCGA-QR-A70I-01A-11D-A35D-08		5069080	136144351	4	743										
ROBO4	54538	broad.mit.edu	37	chr11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggccagctggggtgggaggcGcctgacagctgggacctggg	21	10	0	1			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1816-1818)Cgc>Tgc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							26	32	30					11																	124761327		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761327G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1816C>T	11.37:g.124761327G>A	ENSP00000304945:p.Arg606Cys					RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	p.R606C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2301	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	606					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1816C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937980	0.18206	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.24	6.11	1.95	0.26073	.	0.389841	0.19154	N	0.121379	T	0.52468	0.1736	M	0.65975	2.015	0.34129	D	0.665067	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.52094	-0.8621	10	0.33141	T	0.24	.	4.1764	0.10353	0.2735:0.0:0.5689:0.1575	.	606;496;606	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	606;496;461	ENSP00000304945:R606C;ENSP00000437129:R461C	ENSP00000304945:R606C	R	-	1	0	ROBO4	124266537	0.937000	0.31787	0.452000	0.26994	0.311000	0.27955	0.378000	0.20569	0.419000	0.25927	-0.137000	0.14449	CGC		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		12	12	0	0	0	1	0	12	12					A	124761327	G	A	124761327	3	1	40	1	0	0	0	0	1	0	0	0	13516	1087	38	1	1235	1	ROBO4	11	124761327	Missense_Mutation	SNP	G	TCGA-QR-A70I-01A-11D-A35D-08		124761327	10245189	5	744										
C16orf70	80262	broad.mit.edu	37	chr16	67168285	67168285	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	atgatgcctctgagctgtttCctgggcaatgtctatgctga	11	9	2	3			TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chr16:67168285C>T	ENST00000219139.3	+	8	764	c.576C>T	c.(574-576)ttC>ttT	p.F192F	C16orf70_ENST00000569600.1_Silent_p.F192F|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	192										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGAGCTGTTTCCTGGGCAATG	0.532																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(574-576)ttC>ttT		chromosome 16 open reading frame 70							306	294	298					16																	67168285		2200	4300	6500	SO:0001819	synonymous_variant	80262							g.chr16:67168285C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.576C>T	16.37:g.67168285C>T						C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.F192F	p.F192F	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	8	764	+		Ovarian(137;0.192)	192					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.576C>T	CCDS10828.1																																																																																				0.532	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		5	270	0	0	0	1	0	5	270					T	67168285	C	T	67168285	2	4	40	1	0	0	0	0	0	0	0	1	1829	854	30	3		3	C16orf70	16	67168285	Silent	SNP	C	TCGA-QR-A70I-01A-11D-A35D-08		67168285	23186468	6	745										
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													0	0	1	0	NA	0	1	1	0	ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-QR-A70I-01A-11D-A35D-08	TCGA-QR-A70I-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	511408e9-fa79-4e82-bc2f-b4c0ec0b9882	247885fd-4d02-4b07-a03b-d969f8937718	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	4						4	4	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	40	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-QR-A70I-01A-11D-A35D-08		51239296	104031264	7	746										
PADI3	51702	broad.mit.edu	37	chr1	17597607	17597607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgcggtggcagagctggcCaggaaggccggctgcaagct	18	10	0	1			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:17597607C>T	ENST00000375460.3	+	9	1021	c.981C>T	c.(979-981)gcC>gcT	p.A327A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	327					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGAGCTGGCCAGGAAGGCCG	0.647																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(979-981)gcC>gcT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						59	56	57					1																	17597607		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17597607C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.981C>T	1.37:g.17597607C>T							p.A327A	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	9	1021	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	327					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.981C>T	CCDS179.1																																																																																				0.647	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			5	35	0	0	0	1	0	5	35					T	17597607	C	T	17597607	2	4	41	1	0	0	0	0	0	0	0	1	11379	581	21	3		3	PADI3	1	17597607	Silent	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		17597607	231653014	1	747										
MRPL24	79590	broad.mit.edu	37	chr1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccactttgccctgcttcccgGcatccttgccttctaggatc	7	17	1	0			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567																																						ENST00000368211.4																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(208-210)gCc>gTc		mitochondrial ribosomal protein L24							211	194	200					1																	156708205		2203	4300	6503	SO:0001583	missense	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708205G>A	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"Mitochondrial ribosomal proteins / large subunits"	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.209C>T	1.37:g.156708205G>A	ENSP00000354525:p.Ala70Val					MRPL24_ENST00000361531.2_Missense_Mutation_p.A70V	p.A70V	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN			3	347	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		70			KOW.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.209C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458233	0.63401	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	4.6	0.57074	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.109682	0.64402	D	0.000007	T	0.40322	0.1112	M	0.67397	2.05	0.41365	D	0.987454	P	0.39352	0.669	B	0.31016	0.123	T	0.55866	-0.8073	9	0.72032	D	0.01	-17.5247	12.9383	0.58327	0.0:0.0:0.8372:0.1628	.	70	Q96A35	RM24_HUMAN	V	70	.	ENSP00000354525:A70V	A	-	2	0	MRPL24	154974829	0.996000	0.38824	0.984000	0.44739	0.912000	0.54170	2.423000	0.44705	2.633000	0.89246	0.650000	0.86243	GCC		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		4	179	0	0	0	1	0	4	179					A	156708205	G	A	156708205	3	1	41	1	0	0	0	0	1	0	0	0	9790	1203	42	3	457	3	MRPL24	1	156708205	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08	139110598	156708205	92542416	2	748										
TNR	7143	broad.mit.edu	37	chr1	175365905	175365905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ttccagctcaatggacctgtCgctgataccagccactcgca	8	15	1	1			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr1:175365905C>T	ENST00000367674.2	-	5	1723	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	TNR_ENST00000263525.2_Missense_Mutation_p.D339N			Q92752	TENR_HUMAN	tenascin R	339	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGGACCTGTCGCTGATACCA	0.602																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1015-1017)Gac>Aac		tenascin R							72	77	75					1																	175365905		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365905C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1015G>A	1.37:g.175365905C>T	ENSP00000356646:p.Asp339Asn					TNR_ENST00000263525.2_Missense_Mutation_p.D339N	p.D339N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1723	-	Renal(580;0.146)		339			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1015G>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.637776|4.637776	0.87760|0.87760	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.73575|.	-0.76;-0.76|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.053036|.	0.64402|.	D|.	0.000001|.	T|T	0.69151|0.69151	0.3079|0.3079	L|L	0.45422|0.45422	1.42|1.42	0.51767|0.51767	D|D	0.999932|0.999932	D|.	0.89917|.	1.0|.	D|.	0.72075|.	0.976|.	T|T	0.62859|0.62859	-0.6765|-0.6765	10|5	0.35671|.	T|.	0.21|.	.|.	19.9698|19.9698	0.97280|0.97280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	339|.	Q92752|.	TENR_HUMAN|.	N|Q	339|63	ENSP00000356646:D339N;ENSP00000263525:D339N|.	ENSP00000263525:D339N|.	D|R	-|-	1|2	0|0	TNR|TNR	173632528|173632528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.636000|3.636000	0.54317|0.54317	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAC|CGA		0.602	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		5	172	0	0	0	1	0	5	172					T	175365905	C	T	175365905	3	4	41	1	0	0	0	0	1	0	0	0	16335	884	31	2	3137	2	TNR	1	175365905	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	18657700	175365905	73884716	3	749										
ROCK2	9475	broad.mit.edu	37	chr2	11333967	11333967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctgtctgtgtaactggtcGgacatgaaataacttgctat	9	7	2	1			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:11333967G>A	ENST00000315872.6	-	30	4073	c.3625C>T	c.(3625-3627)Cga>Tga	p.R1209*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAACTGGTCGGACATGAAAT	0.299																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3625-3627)Cga>Tga		Rho-associated, coiled-coil containing protein kinase 2							77	70	72					2																	11333967		1801	4072	5873	SO:0001587	stop_gained	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11333967G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3625C>T	2.37:g.11333967G>A	ENSP00000317985:p.Arg1209*					ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R966*	p.R1209*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	30	4073	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1209			PH.		Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	ENST00000315872.6	37	c.3625C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	46	12.229000	0.99648	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	.	.	.	5.88	5.88	0.94601	.	0.117701	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	.	.	.	X	1209;966;567	.	ENSP00000317985:R1209X	R	-	1	2	ROCK2	11251418	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.509000	0.60448	2.789000	0.95967	0.591000	0.81541	CGA		0.299	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	67	0	0	0	1	0	7	67					A	11333967	G	A	11333967	4	1	41	1	0	0	0	0	0	1	0	0	13518	1124	39	2	557	2	ROCK2	2	11333967	Nonsense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		11333967	231865406	4	750										
ST6GAL2	84620	broad.mit.edu	37	chr2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcgcggggcagcgcctggCgtgcgtccaggcccccaggc	19	16	0	0			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr2:107460204C>T	ENST00000409382.3	-	2	840	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	77					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(229-231)cGc>cAc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							17	22	20					2																	107460204		2144	4211	6355	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460204C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.230G>A	2.37:g.107460204C>T	ENSP00000386942:p.Arg77His					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77H	p.R77H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	840	-			77					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.230G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896345	0.33442	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.32515	2.46;2.46;1.45	5.18	-4.98	0.03019	.	1.558860	0.03596	N	0.232558	T	0.13756	0.0333	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.26985	-1.0087	10	0.41790	T	0.15	-0.4606	8.5868	0.33664	0.0:0.4994:0.1257:0.3749	.	77;77	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	77	ENSP00000355273:R77H;ENSP00000386942:R77H;ENSP00000387332:R77H	ENSP00000355273:R77H	R	-	2	0	ST6GAL2	106826636	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.727000	0.25999	-1.007000	0.03408	-0.793000	0.03317	CGC		0.677	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		14	53	0	0	0	1	0	14	53					T	107460204	C	T	107460204	3	4	41	1	0	0	0	0	1	0	0	0	15221	768	27	1	1466	1	ST6GAL2	2	107460204	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	96126237	107460204	135739169	5	751										
CLASP2	23122	broad.mit.edu	37	chr3	33592821	33592821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taggcgagtttcactggaatTtataaaatctcctggatcca	8	8	2	0			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:33592821T>G	ENST00000468888.2	-	30	3146	c.3100A>C	c.(3100-3102)Aat>Cat	p.N1034H	CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H|CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000399362.4_Missense_Mutation_p.N1033H|CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	814	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCACTGGAATTTATAAAATCT	0.408																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3097-3099)Aat>Cat		cytoplasmic linker associated protein 2							82	80	80					3																	33592821		1836	4078	5914	SO:0001583	missense	23122							g.chr3:33592821T>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3100A>C	3.37:g.33592821T>G	ENSP00000419974:p.Asn1034His					CLASP2_ENST00000480013.1_Missense_Mutation_p.N813H|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1025H|CLASP2_ENST00000539981.1_Missense_Mutation_p.N803H|CLASP2_ENST00000461133.3_Missense_Mutation_p.N793H|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1034H|CLASP2_ENST00000307312.7_Missense_Mutation_p.N515H	p.N1033H	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			30	3450	-			1035					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3097A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.515860|4.515860	0.85495|0.85495	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000480385|ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	.|T;T;T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79227|0.79227	0.4410|0.4410	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.76494	.|0.911;0.999;0.784	.|B;D;P	.|0.83275	.|0.288;0.996;0.465	T|T	0.81302|0.81302	-0.0994|-0.0994	5|10	.|0.72032	.|D	.|0.01	-25.2129|-25.2129	14.0437|14.0437	0.64693|0.64693	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|814;1025;1033	.|O75122;F5H604;E7ERI8	.|CLAP2_HUMAN;.;.	T|H	89|1034;1033;1025;515;803;813;793	.|ENSP00000419974:N1034H;ENSP00000382297:N1033H;ENSP00000352581:N1025H;ENSP00000304743:N515H;ENSP00000439039:N803H;ENSP00000417518:N813H;ENSP00000419305:N793H	.|ENSP00000304743:N515H	K|N	-|-	2|1	0|0	CLASP2|CLASP2	33567825|33567825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.993000|7.993000	0.88291|0.88291	2.106000|2.106000	0.64143|0.64143	0.482000|0.482000	0.46254|0.46254	AAA|AAT		0.408	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		21	58	0	0	0	1	0	21	58					G	33592821	T	G	33592821	3	3	41	1	0	0	0	0	1	0	0	0	3455	1841	64	5	1484	5	CLASP2	3	33592821	Missense_Mutation	SNP	T	TCGA-QR-A70J-01A-11D-A35D-08		33592821	164429609	6	752										
USP19	10869	broad.mit.edu	37	chr3	49151652	49151652	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cgggcaaaataaaagacaggGagaaccttttgcttttgtgg	12	6	0	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr3:49151652G>A	ENST00000398888.2	-	15	2367	c.2049C>T	c.(2047-2049)ctC>ctT	p.L683L	USP19_ENST00000417901.1_Silent_p.L786L|USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000434032.2_Silent_p.L784L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L|USP19_ENST00000453664.1_Silent_p.L774L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	683	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAAAGACAGGGAGAACCTTTT	0.547																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2320-2322)ctC>ctT		ubiquitin specific peptidase 19							119	123	122					3																	49151652		1940	4148	6088	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49151652G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2049C>T	3.37:g.49151652G>A						USP19_ENST00000398888.2_Silent_p.L683L|USP19_ENST00000398892.3_Silent_p.L723L|USP19_ENST00000398896.1_Silent_p.L491L|USP19_ENST00000398898.2_Silent_p.L723L|USP19_ENST00000434032.2_Silent_p.L784L|USP19_ENST00000417901.1_Silent_p.L786L	p.L774L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	2640	-			683					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.2322C>T	CCDS43090.1																																																																																				0.547	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		36	124	0	0	0	1	0	36	124					A	49151652	G	A	49151652	2	1	41	1	0	0	0	0	0	0	0	1	17047	1161	41	3		3	USP19	3	49151652	Silent	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08	15558831	49151652	148870778	7	753										
CPZ	8532	broad.mit.edu	37	chr4	8605723	8605723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggcctggaggctgacgagGcactgccctcagggctgccg	17	13	1	1			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:8605723G>A	ENST00000360986.4	+	4	691	c.517G>A	c.(517-519)Gca>Aca	p.A173T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.A36T|CPZ_ENST00000315782.6_Missense_Mutation_p.A162T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	173					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCTGACGAGGCACTGCCCTC	0.687																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(106-108)Gca>Aca		carboxypeptidase Z							28	24	25					4																	8605723		2167	4251	6418	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605723G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.517G>A	4.37:g.8605723G>A	ENSP00000354255:p.Ala173Thr					CPZ_ENST00000360986.4_Missense_Mutation_p.A173T|CPZ_ENST00000315782.6_Missense_Mutation_p.A162T|CPZ_ENST00000429646.2_5'UTR	p.A36T	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			4	906	+			173			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.106G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560268	0.13498	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.58506	0.65;2.04;0.33	3.86	2.96	0.34315	.	1.277740	0.05772	U	0.606843	T	0.51719	0.1691	L	0.47716	1.5	0.58432	D	0.999998	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.18116	-1.0347	10	0.12766	T	0.61	-6.7555	12.0209	0.53342	0.0:0.1764:0.8236:0.0	.	162;173	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	173;36;162	ENSP00000354255:A173T;ENSP00000371920:A36T;ENSP00000315074:A162T	ENSP00000315074:A162T	A	+	1	0	CPZ	8656623	0.632000	0.27172	0.403000	0.26384	0.123000	0.20343	2.300000	0.43620	0.749000	0.32854	0.555000	0.69702	GCA		0.687	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		3	39	0	0	0	1	0	3	39					A	8605723	G	A	8605723	3	1	41	1	0	0	0	0	1	0	0	0	3839	1203	42	3	531	3	CPZ	4	8605723	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		8605723	182548553	8	754										
MMRN1	22915	broad.mit.edu	37	chr4	90816482	90816482	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcttaccctcccaaccaaCgctagcatcaagttcaatcc	3	16	3	0	rs142099842		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:90816482C>T	ENST00000394980.1	+	2	679	c.360C>T	c.(358-360)aaC>aaT	p.N120N	MMRN1_ENST00000394981.1_Silent_p.N86N|MMRN1_ENST00000264790.2_Silent_p.N120N			Q13201	MMRN1_HUMAN	multimerin 1	120					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCCCAACCAACGCTAGCATCA	0.438																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(358-360)aaC>aaT		multimerin 1		C		1,4405	2.1+/-5.4	0,1,2202	127	122	124		360	-4.2	0	4	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MMRN1	NM_007351.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		120/1229	90816482	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816482C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.360C>T	4.37:g.90816482C>T						MMRN1_ENST00000394981.1_Silent_p.N86N|MMRN1_ENST00000264790.2_Silent_p.N120N	p.N120N			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	679	+		Hepatocellular(203;0.114)	120					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.360C>T	CCDS3635.1																																																																																				0.438	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		16	65	0	0	0	1	0	16	65					T	90816482	C	T	90816482	2	4	41	1	0	0	0	0	0	0	0	1	9670	535	19	1		1	MMRN1	4	90816482	Silent	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	82210759	90816482	100337794	9	755										
SORBS2	8470	broad.mit.edu	37	chr4	186544307	186544307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgaggcggtgcaggatgCtgttgtccggcaagctcccc	15	11	0	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr4:186544307C>T	ENST00000284776.7	-	13	2773	c.2264G>A	c.(2263-2265)aGc>aAc	p.S755N	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.S755N|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	755					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTGCAGGATGCTGTTGTCCGG	0.537																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2263-2265)aGc>aAc		sorbin and SH3 domain containing 2							135	155	149					4																	186544307		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544307C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2264G>A	4.37:g.186544307C>T	ENSP00000284776:p.Ser755Asn					SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S659N|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S855N|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S755N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.S755N			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2827	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	755					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2264G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508816	0.64410	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.53206	0.72;0.72;0.63;0.66	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.61703	1.905	0.80722	D	1	D;D;D	0.64830	0.994;0.993;0.994	D;D;D	0.72338	0.977;0.968;0.977	T	0.68800	-0.5313	10	0.72032	D	0.01	-19.6314	19.982	0.97329	0.0:1.0:0.0:0.0	.	659;855;755	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	N	755;755;659;855	ENSP00000284776:S755N;ENSP00000411764:S755N;ENSP00000397482:S659N;ENSP00000347852:S855N	ENSP00000284776:S755N	S	-	2	0	SORBS2	186781301	1.000000	0.71417	0.991000	0.47740	0.274000	0.26718	7.818000	0.86416	2.737000	0.93849	0.561000	0.74099	AGC		0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	229	0	0	0	1	0	4	229					T	186544307	C	T	186544307	3	4	41	1	0	0	0	0	1	0	0	0	14928	797	28	3	1074	3	SORBS2	4	186544307	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	95727825	186544307	4609969	10	756										
SPINK5	11005	broad.mit.edu	37	chr5	147504400	147504400	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagccctcaaataatgcaaaGgttatttattaaaggatacc	6	7	1	0			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr5:147504400G>T	ENST00000256084.7	+	28	2781	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SPINK5_ENST00000398454.1_Missense_Mutation_p.K913N|SPINK5_ENST00000359874.3_Splice_Site_p.K913N	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	913	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAATGCAAAGGTTATTTATT	0.284																																						ENST00000398454.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(2737-2739)aaG>aaT		serine peptidase inhibitor, Kazal type 5							60	58	59					5																	147504400		1799	4057	5856	SO:0001630	splice_region_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147504400G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2739+1G>T	5.37:g.147504400G>T						SPINK5_ENST00000359874.3_Splice_Site_p.K913_splice|SPINK5_ENST00000256084.7_Splice_Site_p.K913_splice	p.K913N	NM_001127699.1	NP_001121171.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		28	2812	+			913			Kazal-like 14.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2739G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235071	0.39498	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000256084	T;T;T	0.51071	0.72;0.89;3.2	4.63	4.63	0.57726	.	1.100660	0.06883	N	0.802878	T	0.56543	0.1992	L	0.29908	0.895	0.33291	D	0.563529	D;D;B	0.71674	0.998;0.996;0.296	D;P;B	0.68353	0.957;0.889;0.259	T	0.45381	-0.9265	10	0.19590	T	0.45	-19.9648	13.2871	0.60249	0.0:0.0:1.0:0.0	.	913;913;913	Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;ISK5_HUMAN;.	N	913	ENSP00000381472:K913N;ENSP00000352936:K913N;ENSP00000256084:K913N	ENSP00000256084:K913N	K	+	3	2	SPINK5	147484593	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	3.779000	0.55379	2.860000	0.98153	0.655000	0.94253	AAG		0.284	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	Missense_Mutation	5	16	1	0	0.00116845	1	0.00116845	5	16					T	147504400	G	T	147504400	5	4	41	1	0	0	0	0	0	0	1	0	15061	1014	35	5	2849	5	SPINK5	5	147504400	Splice_Site	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		147504400	33410860	11	757										
TPK1	27010	broad.mit.edu	37	chr7	144462990	144462990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacctttgttccaaagatgaCgaaaatagttgtccaaaggc	8	8	0	2	rs77358162	byFrequency	TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr7:144462990C>T	ENST00000360057.3	-	3	200	c.98G>A	c.(97-99)cGt>cAt	p.R33H	TPK1_ENST00000378099.3_Missense_Mutation_p.R33H	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	33					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CCAAAGATGACGAAAATAGTT	0.328													C|||	9	0.00179712	0	0.0029	5008	,	,		18774	0		0.007	False		,,,				2504	0				Ovarian(45;88 1034 2073 5829 28455)	ENST00000360057.3																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(97-99)cGt>cAt		thiamin pyrophosphokinase 1	Thiamine(DB00152)	C	HIS/ARG,HIS/ARG	9,4397	15.5+/-35.6	0,9,2194	100	112	108		98,98	1.1	0.9	7	dbSNP_133	108	74,8522	44.0+/-102.2	0,74,4224	yes	missense,missense	TPK1	NM_001042482.1,NM_022445.3	29,29	0,83,6418	TT,TC,CC		0.8609,0.2043,0.6384	benign,benign	33/195,33/244	144462990	83,12919	2203	4298	6501	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144462990C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.98G>A	7.37:g.144462990C>T	ENSP00000353165:p.Arg33His					TPK1_ENST00000378099.3_Missense_Mutation_p.R33H	p.R33H	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN			3	200	-			33					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.98G>A	CCDS5888.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	7.667	0.686196	0.14973	0.002043	0.008609	ENSG00000196511	ENST00000360057;ENST00000378099;ENST00000552881	D;D;D	0.83837	-1.77;-1.77;-1.77	4.97	1.1	0.20463	Thiamin pyrophosphokinase, catalytic domain (3);	0.320888	0.36854	N	0.002376	T	0.59142	0.2172	N	0.26162	0.8	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.04013	0.001;0.001	T	0.52320	-0.8591	10	0.40728	T	0.16	-9.6196	3.4534	0.07506	0.1787:0.5391:0.0:0.2822	.	33;33	F5GZG6;Q9H3S4	.;TPK1_HUMAN	H	33	ENSP00000353165:R33H;ENSP00000367339:R33H;ENSP00000448655:R33H	ENSP00000353165:R33H	R	-	2	0	TPK1	144093923	0.935000	0.31712	0.926000	0.36857	0.990000	0.78478	0.410000	0.21098	0.363000	0.24346	0.655000	0.94253	CGT		0.328	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		15	72	0	0	0	1	0	15	72					T	144462990	C	T	144462990	3	4	41	1	0	0	0	0	1	0	0	0	16401	536	19	1	661	1	TPK1	7	144462990	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		144462990	14675673	12	758										
MYPN	84665	broad.mit.edu	37	chr10	69882049	69882049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	agaagttccagaaggaactcGagtacagttggattgcatag	12	6	0	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:69882049G>A	ENST00000358913.5	+	2	1342	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	285	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAAGGAACTCGAGTACAGTTG	0.468																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(853-855)cGa>cAa		myopalladin							68	72	71					10																	69882049		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69882049G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.854G>A	10.37:g.69882049G>A	ENSP00000351790:p.Arg285Gln					MYPN_ENST00000373675.3_Missense_Mutation_p.R285Q|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R285Q	p.R285Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	1342	+			285			Ig-like 1.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.854G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026773	0.75390	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.66815	-0.23;-0.23;-0.23	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059185	0.64402	D	0.000002	T	0.46249	0.1383	N	0.11131	0.1	0.37068	D	0.898401	D;D	0.57899	0.981;0.958	P;B	0.44696	0.458;0.353	T	0.51244	-0.8730	9	.	.	.	.	7.5708	0.27907	0.1947:0.0:0.8053:0.0	.	285;285	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	Q	285	ENSP00000351790:R285Q;ENSP00000441668:R285Q;ENSP00000362779:R285Q	.	R	+	2	0	MYPN	69552055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.713000	0.68415	2.722000	0.93159	0.561000	0.74099	CGA		0.468	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		12	60	0	0	0	1	0	12	60					A	69882049	G	A	69882049	3	1	41	1	0	0	0	0	1	0	0	0	10098	1058	37	2	856	2	MYPN	10	69882049	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		69882049	65652698	13	759										
TCF7L2	6934	broad.mit.edu	37	chr10	114910867	114910867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcgtcccagagtgatgtcgGctcactccatagttcgtaag	10	11	1	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:114910867G>A	ENST00000355995.4	+	9	1493	c.986G>A	c.(985-987)gGc>gAc	p.G329D	TCF7L2_ENST00000369397.4_Missense_Mutation_p.G306D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D|TCF7L2_ENST00000545257.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	329	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGTGATGTCGGCTCACTCCAT	0.532			T	VTI1A	colorectal																																	ENST00000545257.1				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(985-987)gGc>gAc		transcription factor 7-like 2 (T-cell specific, HMG-box)							280	216	238					10																	114910867		2203	4300	6503	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114910867G>A	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.986G>A	10.37:g.114910867G>A	ENSP00000348274:p.Gly329Asp					TCF7L2_ENST00000536810.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369397.4_Missense_Mutation_p.G306D|TCF7L2_ENST00000369389.1_Missense_Mutation_p.G40D|TCF7L2_ENST00000355995.4_Missense_Mutation_p.G329D|TCF7L2_ENST00000534894.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.G353D|TCF7L2_ENST00000538897.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000542695.1_Missense_Mutation_p.G45D|TCF7L2_ENST00000543371.1_Missense_Mutation_p.G329D|TCF7L2_ENST00000352065.5_Missense_Mutation_p.G306D	p.G329D			Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	9	1493	+		Breast(234;0.058)|Colorectal(252;0.0615)	329			Mediates interaction with MAD2L2.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.986G>A		.	.	.	.	.	.	.	.	.	.	g	10.99	1.506218	0.26949	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945	D;D;D;D;D;D;D;D;D;D;D;D	0.99201	-4.94;-4.95;-4.95;-4.97;-5.51;-5.52;-5.51;-4.95;-5.51;-4.96;-5.55;-5.52	5.17	4.23	0.50019	.	0.097331	0.64402	D	0.000001	D	0.96112	0.8733	N	0.05124	-0.11	0.58432	D	0.999995	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29136	0.0;0.0;0.0;0.0;0.0;0.075;0.001;0.0;0.0;0.0;0.0;0.001;0.0;0.072;0.234;0.002;0.018;0.002;0.047	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.40825	0.001;0.001;0.001;0.001;0.001;0.028;0.004;0.001;0.001;0.001;0.0;0.002;0.002;0.031;0.341;0.002;0.06;0.005;0.04	D	0.94523	0.7729	10	0.09084	T	0.74	0.213	15.7386	0.77866	0.0:0.1362:0.8638:0.0	.	186;146;228;329;200;244;302;306;306;272;329;306;306;311;353;306;329;302;306	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	329;329;329;329;353;329;329;306;306;45;40;46	ENSP00000348274:G329D;ENSP00000440547:G329D;ENSP00000444972:G329D;ENSP00000446238:G329D;ENSP00000347949:G353D;ENSP00000446172:G329D;ENSP00000443626:G329D;ENSP00000358404:G306D;ENSP00000344823:G306D;ENSP00000443883:G45D;ENSP00000358396:G40D;ENSP00000277945:G46D	ENSP00000277945:G46D	G	+	2	0	TCF7L2	114900857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.542000	0.67218	2.413000	0.81919	0.655000	0.94253	GGC		0.532	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		4	105	0	0	0	1	0	4	105					A	114910867	G	A	114910867	3	1	41	1	0	0	0	0	1	0	0	0	15695	1203	42	3	1165	3	TCF7L2	10	114910867	Missense_Mutation	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08	45028818	114910867	20623880	14	760										
TACC2	10579	broad.mit.edu	37	chr10	123970864	123970864	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaagatgaaaaagacaccCgagaaacttgacaacactcc	6	12	0	5	rs116727041		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr10:123970864C>A	ENST00000369005.1	+	9	7264	c.6924C>A	c.(6922-6924)ccC>ccA	p.P2308P	TACC2_ENST00000369001.1_Silent_p.P12P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000358010.1_Silent_p.P454P|TACC2_ENST00000260733.3_Silent_p.P386P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000515273.1_Silent_p.P2312P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2308					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAAGACACCCGAGAAACTTG	0.488																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6922-6924)ccC>ccA		transforming, acidic coiled-coil containing protein 2							109	110	110					10																	123970864		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970864C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6924C>A	10.37:g.123970864C>A						TACC2_ENST00000368999.1_Silent_p.P386P|TACC2_ENST00000358010.1_Silent_p.P454P|TACC2_ENST00000369001.1_Silent_p.P12P|TACC2_ENST00000369000.1_Silent_p.P12P|TACC2_ENST00000360561.3_Silent_p.P386P|TACC2_ENST00000515603.1_Silent_p.P2263P|TACC2_ENST00000515273.1_Silent_p.P2312P|TACC2_ENST00000369004.3_Silent_p.P386P|TACC2_ENST00000334433.3_Silent_p.P2308P|TACC2_ENST00000453444.2_Silent_p.P2312P|TACC2_ENST00000513429.1_Silent_p.P454P|TACC2_ENST00000260733.3_Silent_p.P386P	p.P2308P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7264	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2308					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.6924C>A	CCDS7626.1																																																																																				0.488	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			30	92	1	0	3.80469e-20	1	4.15058e-20	30	92					A	123970864	C	A	123970864	2	1	41	1	0	0	0	0	0	0	0	1	15499	639	23	5		5	TACC2	10	123970864	Silent	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08	9059997	123970864	11563883	15	761										
GPR137	56834	broad.mit.edu	37	chr11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtcatagtgagcttgtgCcgtccccctaggatgggggg	15	11	1	1			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr11:64056826C>T	ENST00000313074.3	+	7	1348	c.1243C>T	c.(1243-1245)Ccg>Tcg	p.P415S	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000411458.1_Missense_Mutation_p.P473S|KCNK4_ENST00000422670.2_5'Flank|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000377702.4_3'UTR	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647																																						ENST00000411458.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(1417-1419)Ccg>Tcg		G protein-coupled receptor 137							61	61	61					11																	64056826		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64056826C>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"GPCR / Unclassified : 7TM orphan receptors"	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.1243C>T	11.37:g.64056826C>T	ENSP00000321698:p.Pro415Ser					GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000438980.2_3'UTR	p.P473S	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN			9	1445	+			415					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.1417C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055330	0.19907	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.51574	0.7;0.85	5.27	3.38	0.38709	.	1.323320	0.05536	N	0.564845	T	0.30293	0.0760	N	0.08118	0	0.58432	D	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.06991	-1.0796	10	0.49607	T	0.09	-0.0272	7.3883	0.26895	0.0:0.7394:0.1696:0.091	.	473;415	B4DTG7;Q96N19	.;G137A_HUMAN	S	473;415	ENSP00000411827:P473S;ENSP00000321698:P415S	ENSP00000321698:P415S	P	+	1	0	GPR137	63813402	0.698000	0.27777	0.584000	0.28653	0.551000	0.35334	1.531000	0.36018	0.718000	0.32166	0.561000	0.74099	CCG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		4	86	0	0	0	1	0	4	86					T	64056826	C	T	64056826	3	4	41	1	0	0	0	0	1	0	0	0	6645	739	26	3	1557	3	GPR137	11	64056826	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		64056826	70949690	16	762										
RCOR1	23186	broad.mit.edu	37	chr14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccggaaacaaaaacgggagCgggaggagaggtgagcacat	16	8	0	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr14:103174910C>T	ENST00000570597.1	+	6	760	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	RCOR1_ENST00000262241.6_Missense_Mutation_p.R257W			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(769-771)Cgg>Tgg		REST corepressor 1							102	109	106					14																	103174910		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174910C>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.760C>T	14.37:g.103174910C>T	ENSP00000459789:p.Arg254Trp					RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	p.R257W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	995	+			254					Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.769C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.247023	0.80024	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	4.99	0.66335	.	0.127305	0.56097	D	0.000037	T	0.56426	0.1984	L	0.59436	1.845	0.58432	D	0.999998	B	0.26809	0.16	B	0.18871	0.023	T	0.58340	-0.7653	9	0.72032	D	0.01	-18.6863	10.7992	0.46478	0.1306:0.8017:0.0:0.0677	.	254	Q9UKL0	RCOR1_HUMAN	W	254	.	ENSP00000262241:R254W	R	+	1	2	RCOR1	102244663	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.521000	0.35910	1.487000	0.48415	0.655000	0.94253	CGG		0.468	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		6	205	0	0	0	1	0	6	205					T	103174910	C	T	103174910	3	4	41	1	0	0	0	0	1	0	0	0	13182	759	27	1	782	1	RCOR1	14	103174910	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		103174910	4174630	17	763										
MEFV	4210	broad.mit.edu	37	chr16	3293277	3293277	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgaatgtatagatgtgggatCtggctgtcacattgtaaaag	12	5	2	1	rs139092123		TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr16:3293277C>A	ENST00000219596.1	-	10	2249	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	MEFV_ENST00000536379.1_Missense_Mutation_p.R526I|MEFV_ENST00000339854.4_Missense_Mutation_p.R557I|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	737	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GATGTGGGATCTGGCTGTCAC	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		18876	0		0	False		,,,				2504	0					ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(2209-2211)aGa>aTa		Mediterranean fever	Colchicine(DB01394)						112	105	108					16																	3293277		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293277C>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2210G>T	16.37:g.3293277C>A	ENSP00000219596:p.Arg737Ile					MEFV_ENST00000339854.4_Missense_Mutation_p.R557I|MEFV_ENST00000536379.1_Missense_Mutation_p.R526I|MEFV_ENST00000541159.1_3'UTR	p.R737I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	2249	-			737			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.2210G>T	CCDS10498.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.35	1.614053	0.28712	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.69435	-0.4;-0.4;-0.4	5.23	2.79	0.32731	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.246708	0.28612	N	0.014738	T	0.64068	0.2565	L	0.44542	1.39	0.09310	N	1	D	0.56968	0.978	P	0.56398	0.797	T	0.54860	-0.8230	10	0.54805	T	0.06	-13.8188	2.8979	0.05696	0.2583:0.4849:0.0:0.2568	.	737	O15553	MEFV_HUMAN	I	737;557;526	ENSP00000219596:R737I;ENSP00000339639:R557I;ENSP00000445079:R526I	ENSP00000219596:R737I	R	-	2	0	MEFV	3233278	0.000000	0.05858	0.679000	0.29978	0.193000	0.23685	-0.023000	0.12456	1.106000	0.41623	0.650000	0.86243	AGA		0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	88	1	0	2.56e-06	1	2.71059e-06	4	88					A	3293277	C	A	3293277	3	1	41	1	0	0	0	0	1	0	0	0	9459	913	32	5	139	5	MEFV	16	3293277	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		3293277	87061476	18	764										
KDM6B	23135	broad.mit.edu	37	chr17	7756355	7756355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatgaagcactgccaggtgCaacgcgagagcctggtgcgg	15	12	0	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr17:7756355C>G	ENST00000448097.2	+	21	4979	c.4648C>G	c.(4648-4650)Caa>Gaa	p.Q1550E	TMEM88_ENST00000301599.6_5'Flank|KDM6B_ENST00000254846.5_Missense_Mutation_p.Q1550E|TMEM88_ENST00000574668.1_5'Flank			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1550					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGCCAGGTGCAACGCGAGAG	0.627																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(4648-4650)Caa>Gaa		lysine (K)-specific demethylase 6B							91	80	84					17																	7756355		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7756355C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4648C>G	17.37:g.7756355C>G	ENSP00000412513:p.Gln1550Glu					KDM6B_ENST00000448097.2_Missense_Mutation_p.Q1550E	p.Q1550E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			21	5037	+			1550					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.4648C>G		.	.	.	.	.	.	.	.	.	.	C	13.67	2.307829	0.40795	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.28666	1.6;1.6	5.28	5.28	0.74379	.	0.073162	0.56097	D	0.000032	T	0.37945	0.1022	L	0.29908	0.895	0.51767	D	0.999939	P;D	0.57257	0.528;0.979	B;P	0.53593	0.355;0.73	T	0.18116	-1.0347	10	0.72032	D	0.01	-12.2212	18.0612	0.89378	0.0:1.0:0.0:0.0	.	1550;1550	O15054;O15054-1	KDM6B_HUMAN;.	E	1550	ENSP00000254846:Q1550E;ENSP00000412513:Q1550E	ENSP00000254846:Q1550E	Q	+	1	0	KDM6B	7697080	0.983000	0.35010	0.954000	0.39281	0.106000	0.19336	7.326000	0.79133	2.643000	0.89663	0.462000	0.41574	CAA		0.627	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		4	27	0	0	0	1	0	4	27					G	7756355	C	G	7756355	3	3	41	1	0	0	0	0	1	0	0	0	8138	711	25	5	4718	5	KDM6B	17	7756355	Missense_Mutation	SNP	C	TCGA-QR-A70J-01A-11D-A35D-08		7756355	73438855	19	765										
WDR62	284403	broad.mit.edu	37	chr19	36585023	36585023	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggaggaagagtgtgagccAgaagagatgctgaagacacc	15	7	0	6			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr19:36585023A>T	ENST00000270301.7	+	20	2424	c.2424A>T	c.(2422-2424)ccA>ccT	p.P808P	WDR62_ENST00000401500.2_Silent_p.P808P			O43379	WDR62_HUMAN	WD repeat domain 62	808					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTGTGAGCCAGAAGAGATGC	0.488																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2422-2424)ccA>ccT		WD repeat domain 62							142	134	137					19																	36585023		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36585023A>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2424A>T	19.37:g.36585023A>T						WDR62_ENST00000270301.7_Silent_p.P808P	p.P808P	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		20	2459	+	Esophageal squamous(110;0.162)		808					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.2424A>T	CCDS33001.1																																																																																				0.488	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		8	75	0	0	0	1	0	8	75					T	36585023	A	T	36585023	2	4	41	1	0	0	0	0	0	0	0	1	17310	175	7	5		5	WDR62	19	36585023	Silent	SNP	A	TCGA-QR-A70J-01A-11D-A35D-08		36585023	22543960	20	766										
RAB22A	57403	broad.mit.edu	37	chr20	56918775	56918775	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttaggtctctctttataggGcatcttttatgaccaagact	7	8	3	2			TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chr20:56918775G>A	ENST00000244040.3	+	3	399	c.118G>A	c.(118-120)Gca>Aca	p.A40T	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	40					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TCTTTATAGGGCATCTTTTAT	0.403																																						ENST00000244040.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6						c.e3-1		RAB22A, member RAS oncogene family							98	92	94					20																	56918775		2203	4300	6503	SO:0001630	splice_region_variant	57403				endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr20:56918775G>A	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"RAB, member RAS oncogene"	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.117-1G>A	20.37:g.56918775G>A						RAB22A_ENST00000488949.1_3'UTR	p.A40_splice	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)		3	399	+	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		40					B3KR86|E1P605|Q8TF12|Q9H4E6	Splice_Site	SNP	ENST00000244040.3	37	c.116_splice	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761801	0.96906	.	.	ENSG00000124209	ENST00000244040	T	0.80033	-1.33	6.07	6.07	0.98685	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.90751	0.4657	10	0.87932	D	0	-25.3465	20.6439	0.99570	0.0:0.0:1.0:0.0	.	40	Q9UL26	RB22A_HUMAN	T	40	ENSP00000244040:A40T	ENSP00000244040:A40T	A	+	1	0	RAB22A	56352181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.102000	0.94226	2.890000	0.99128	0.650000	0.86243	GCA		0.403	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2		Missense_Mutation	3	50	0	0	0	1	0	3	50					A	56918775	G	A	56918775	5	1	41	1	0	0	0	0	0	0	1	0	12909	1217	42	3	128	3	RAB22A	20	56918775	Splice_Site	SNP	G	TCGA-QR-A70J-01A-11D-A35D-08		56918775	6106745	21	767										
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													0	0	1	0	0	0	1	1	0	gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		2	4						2	4	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	41	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-QR-A70J-01A-11D-A35D-08		54209302	101061258	22	768										
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													0	0	1	0	0	0	1	1	0	tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-QR-A70J-01A-11D-A35D-08	TCGA-QR-A70J-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	030f6d72-2301-46e1-9970-35bf1a3f3b3a	10a4b987-2a12-433b-96e9-7d0dac568184	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	168						7	168	---	---	---	---	-	149984526	GTG	-	149984524	7	5	41	1	0	1	0	1	0	0	0	0	3051	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-QR-A70J-01A-11D-A35D-08	95775222	149984524	5286036	23	769										
NBPF9	400818	broad.mit.edu	37	chr1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	aatataaagtcctggttcacGctcaggaacgagagctgacc	10	10	2	2	rs202229831	byFrequency	TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	372						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													.|||	28	0.00559105	0.0174	0.0029	5008	,	,		21849	0.001		0.002	False		,,,				2504	0					ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(340-342)Gct>Tct		neuroblastoma breakpoint family, member 9							74	58	63					1																	144814702		692	1588	2280	SO:0001583	missense	400818							g.chr1:144814702G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.340G>T	1.37:g.144814702G>T	ENSP00000390934:p.Ala114Ser					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	p.A114S	NM_001037675.2	NP_001032764.1					3	340	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.251443	0.00022	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.03468	3.92;3.94	0.618	-1.24	0.09435	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.49995	-0.8879	8	0.02654	T	1	.	6.752	0.23491	0.1656:0.0:0.6575:0.177	.	372;112	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	S	114	ENSP00000342975:A114S;ENSP00000390934:A114S	ENSP00000342975:A114S	A	+	1	0	NBPF9	143526059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-4.662000	0.00037	-3.692000	0.00024	GCT		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		4	114	1	0	5.4927e-09	1	5.70396e-09	4	114					T	144814702	G	T	144814702	3	4	42	1	0	0	0	0	1	0	0	0	10199	1087	38	5	1142	5	NBPF9	1	144814702	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		144814702	104435919	1	770										
OR10X1	128367	broad.mit.edu	37	chr1	158549598	158549598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	gtgggtacacagaaaagccaAcaagaatgaattccttcagg	10	8	1	3			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr1:158549598A>G	ENST00000368150.1	-	1	91	c.92T>C	c.(91-93)gTt>gCt	p.V31A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAAAAGCCAACAAGAATGAA	0.368																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(91-93)gTt>gCt		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							123	120	121					1																	158549598		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549598A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.92T>C	1.37:g.158549598A>G	ENSP00000357132:p.Val31Ala						p.V31A	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	91	-	all_hematologic(112;0.0378)		31					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.92T>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	8.714	0.912642	0.17907	.	.	ENSG00000186400	ENST00000368150	T	0.00448	7.38	5.13	5.13	0.70059	.	0.343745	0.21033	N	0.081313	T	0.00144	0.0004	L	0.52266	1.64	0.09310	N	1	P	0.40909	0.732	B	0.29716	0.106	T	0.21690	-1.0238	10	0.62326	D	0.03	.	9.4549	0.38750	0.8416:0.0:0.0:0.1584	.	31	Q8NGY0	O10X1_HUMAN	A	31	ENSP00000357132:V31A	ENSP00000357132:V31A	V	-	2	0	OR10X1	156816222	0.000000	0.05858	0.076000	0.20297	0.384000	0.30261	0.579000	0.23788	2.139000	0.66308	0.528000	0.53228	GTT		0.368	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		20	223	0	0	0	1	0	20	223					G	158549598	A	G	158549598	3	3	42	1	0	0	0	0	1	0	0	0	10922	43	2	4	883	4	OR10X1	1	158549598	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	13734896	158549598	90701023	2	771										
TPO	7173	broad.mit.edu	37	chr2	1418187	1418187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ccgttaattttagaatgagaGcgctcgctgtgctgtctgtc	11	9	1	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:1418187G>A	ENST00000345913.4	+	2	98	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000329066.4_Missense_Mutation_p.A3T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	3					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TAGAATGAGAGCGCTCGCTGT	0.522																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7-9)Gcg>Acg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						71	69	70					2																	1418187		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1418187G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.7G>A	2.37:g.1418187G>A	ENSP00000318820:p.Ala3Thr					TPO_ENST00000382269.3_Missense_Mutation_p.A3T|TPO_ENST00000346956.3_Missense_Mutation_p.A3T|TPO_ENST00000349624.3_Missense_Mutation_p.A3T|TPO_ENST00000382198.1_Missense_Mutation_p.A3T|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A3T|TPO_ENST00000539820.1_Missense_Mutation_p.A3T|TPO_ENST00000337415.3_Missense_Mutation_p.A3T|TPO_ENST00000382201.3_Missense_Mutation_p.A3T	p.A3T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	2	98	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	3					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.7G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	6.848	0.525663	0.13066	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.66460	0.25;-0.21;-0.21;-0.16;0.07;0.25;-0.21;-0.12;0.28;0.07	5.39	-1.97	0.07503	.	1.351910	0.04684	N	0.412836	T	0.46927	0.1418	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.001;0.001	T	0.25082	-1.0142	10	0.16420	T	0.52	-1.8566	9.8779	0.41216	0.6312:0.0:0.3688:0.0	.	3;3;3;3;3	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	T	3	ENSP00000371704:A3T;ENSP00000337263:A3T;ENSP00000318820:A3T;ENSP00000263886:A3T;ENSP00000332044:A3T;ENSP00000444840:A3T;ENSP00000329869:A3T;ENSP00000371636:A3T;ENSP00000390994:A3T;ENSP00000371633:A3T	ENSP00000329869:A3T	A	+	1	0	TPO	1397194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.663000	0.05299	-0.382000	0.07870	-0.812000	0.03155	GCG		0.522	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		11	25	0	0	0	1	0	11	25					A	1418187	G	A	1418187	3	1	42	1	0	0	0	0	1	0	0	0	16407	971	34	3	9	3	TPO	2	1418187	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		1418187	241781186	3	772										
RTN4	57142	broad.mit.edu	37	chr2	55252359	55252359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	tctctatctctgcttgagtgGccaaagcagaaacatctgga	9	10	3	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:55252359G>A	ENST00000337526.6	-	3	3119	c.2876C>T	c.(2875-2877)gCc>gTc	p.A959V	RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	959					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTTGAGTGGCCAAAGCAGA	0.403																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2875-2877)gCc>gTc		reticulon 4							128	128	128					2																	55252359		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252359G>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2876C>T	2.37:g.55252359G>A	ENSP00000337838:p.Ala959Val					RTN4_ENST00000405240.1_Missense_Mutation_p.A753V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.A753V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.A727V|RTN4_ENST00000357376.3_Missense_Mutation_p.A753V|RTN4_ENST00000404909.1_Missense_Mutation_p.A753V	p.A959V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	3119	-			959					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2876C>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	3.438	-0.114770	0.06881	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.2	5.17	0.901	0.19284	.	1.119980	0.06721	N	0.774867	T	0.20170	0.0485	L	0.51422	1.61	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.31280	-0.9949	10	0.33141	T	0.24	0.9988	9.1212	0.36788	0.0686:0.0:0.5082:0.4232	.	959	Q9NQC3	RTN4_HUMAN	V	753;753;959;753;753;727	ENSP00000384471:A753V;ENSP00000349944:A753V;ENSP00000337838:A959V;ENSP00000378109:A753V;ENSP00000385650:A753V;ENSP00000346465:A727V	ENSP00000337838:A959V	A	-	2	0	RTN4	55105863	0.003000	0.15002	0.012000	0.15200	0.006000	0.05464	1.295000	0.33377	0.224000	0.20940	0.655000	0.94253	GCC		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			4	108	0	0	0	1	0	4	108					A	55252359	G	A	55252359	3	1	42	1	0	0	0	0	1	0	0	0	13728	1203	42	3	768	3	RTN4	2	55252359	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	53834172	55252359	187947014	4	773										
HAT1	8520	broad.mit.edu	37	chr2	172841113	172841113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	tagcggaagatccatccaaaAgctatgtgaaattacgagac	9	8	0	3	rs367808768		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:172841113A>G	ENST00000264108.4	+	9	877	c.841A>G	c.(841-843)Agc>Ggc	p.S281G	HAT1_ENST00000392584.1_Missense_Mutation_p.S196G|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	281					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCCATCCAAAAGCTATGTGAA	0.333																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(841-843)Agc>Ggc		histone acetyltransferase 1							81	80	80					2																	172841113		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841113A>G	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.841A>G	2.37:g.172841113A>G	ENSP00000264108:p.Ser281Gly					SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.S196G	p.S281G	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	877	+			281					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.841A>G	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207325	0.58343	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.63	5.63	0.86233	Acyl-CoA N-acyltransferase (2);	0.083649	0.85682	D	0.000000	T	0.56731	0.2005	L	0.43923	1.385	0.43430	D	0.995596	B;B	0.22146	0.065;0.039	B;B	0.12837	0.008;0.006	T	0.56408	-0.7984	9	0.87932	D	0	-32.3833	16.1381	0.81502	1.0:0.0:0.0:0.0	.	196;281	O14929-2;O14929	.;HAT1_HUMAN	G	196;281	.	ENSP00000264108:S281G	S	+	1	0	HAT1	172549359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.638000	0.91019	2.258000	0.74832	0.533000	0.62120	AGC		0.333	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		27	2	0	0	0	1	0	27	2					G	172841113	A	G	172841113	3	3	42	1	0	0	0	0	1	0	0	0	6964	72	3	4	875	4	HAT1	2	172841113	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	117588754	172841113	70358260	5	774										
OSBPL6	114880	broad.mit.edu	37	chr2	179255937	179255937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ccctctgcaaagtgcatttgGagaccaggtgagagtggcct	13	10	1	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr2:179255937G>T	ENST00000190611.4	+	22	2815	c.2439G>T	c.(2437-2439)tgG>tgT	p.W813C	OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.W838C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	813					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGTGCATTTGGAGACCAGGTG	0.527																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2437-2439)tgG>tgT		oxysterol binding protein-like 6							138	121	127					2																	179255937		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179255937G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2439G>T	2.37:g.179255937G>T	ENSP00000190611:p.Trp813Cys					OSBPL6_ENST00000409631.1_Missense_Mutation_p.W777C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.W838C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.W777C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.W817C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.W782C	p.W813C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		22	2815	+			813					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2439G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398950	0.83120	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.999;1.0	D	0.88777	0.3268	10	0.87932	D	0	-7.4271	18.8281	0.92127	0.0:0.0:1.0:0.0	.	782;817;777;838;813	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	C	838;777;782;813;777;817	ENSP00000376293:W838C;ENSP00000352713:W777C;ENSP00000387248:W782C;ENSP00000190611:W813C;ENSP00000386885:W777C;ENSP00000318723:W817C	ENSP00000190611:W813C	W	+	3	0	OSBPL6	178964183	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.624000	0.98398	2.514000	0.84764	0.462000	0.41574	TGG		0.527	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		45	11	1	0	1.35964e-18	1	1.49838e-18	45	11					T	179255937	G	T	179255937	3	4	42	1	0	0	0	0	1	0	0	0	11281	1183	41	5	2639	5	OSBPL6	2	179255937	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	6414824	179255937	63943436	6	775										
DPPA2	151871	broad.mit.edu	37	chr3	109027103	109027103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ccttgcgtttcctcgaacatCgctgtaatctggtctcttgt	8	12	2	0			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:109027103C>T	ENST00000478945.1	-	6	680	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	145					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCGAACATCGCTGTAATCT	0.438																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(433-435)cGa>cAa		developmental pluripotency associated 2							140	120	126					3																	109027103		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027103C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.434G>A	3.37:g.109027103C>T	ENSP00000417710:p.Arg145Gln						p.R145Q	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			6	680	-			145					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.434G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375697	0.11409	.	.	ENSG00000163530	ENST00000478945	T	0.47869	0.83	3.89	6.22E-6	0.14040	.	1.830180	0.02677	N	0.109176	T	0.22475	0.0542	N	0.04508	-0.205	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.08391	-1.0724	10	0.22706	T	0.39	0.3328	1.0189	0.01513	0.2142:0.1891:0.4201:0.1766	.	145	Q7Z7J5	DPPA2_HUMAN	Q	145	ENSP00000417710:R145Q	ENSP00000417710:R145Q	R	-	2	0	DPPA2	110509793	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.058000	0.14301	-0.023000	0.13963	-0.321000	0.08615	CGA		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		5	56	0	0	0	1	0	5	56					T	109027103	C	T	109027103	3	4	42	1	0	0	0	0	1	0	0	0	4734	884	31	2	474	2	DPPA2	3	109027103	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		109027103	88995327	7	776										
CD96	10225	broad.mit.edu	37	chr3	111263944	111263944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	aaatgtttatgctacacttgGctctgatgtcaacctgacct	7	10	2	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:111263944G>A	ENST00000283285.5	+	2	244	c.113G>A	c.(112-114)gGc>gAc	p.G38D	CD96_ENST00000352690.4_Missense_Mutation_p.G38D|CD96_ENST00000438817.2_Missense_Mutation_p.G38D	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	38	Ig-like V-type 1.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GCTACACTTGGCTCTGATGTC	0.403									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(112-114)gGc>gAc		CD96 molecule							168	146	153					3																	111263944		2203	4300	6503	SO:0001583	missense	10225	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111263944G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.113G>A	3.37:g.111263944G>A	ENSP00000283285:p.Gly38Asp					CD96_ENST00000438817.2_Missense_Mutation_p.G38D|CD96_ENST00000283285.5_Missense_Mutation_p.G38D	p.G38D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			2	353	+			38			Ig-like V-type 1.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.113G>A	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877481	0.72294	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.54479	0.57;0.57;0.57	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.69637	0.3133	M	0.68952	2.095	0.39259	D	0.964183	D;D;D;D	0.69078	0.997;0.996;0.997;0.997	D;D;D;D	0.72338	0.977;0.962;0.977;0.977	T	0.74662	-0.3590	10	0.87932	D	0	-6.2189	14.2559	0.66051	0.0:0.0:1.0:0.0	.	38;38;38;38	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	D	38	ENSP00000342040:G38D;ENSP00000283285:G38D;ENSP00000389801:G38D	ENSP00000283285:G38D	G	+	2	0	CD96	112746634	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.828000	0.62730	2.438000	0.82558	0.655000	0.94253	GGC		0.403	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			4	114	0	0	0	1	0	4	114					A	111263944	G	A	111263944	3	1	42	1	0	0	0	0	1	0	0	0	3048	1203	42	3	119	3	CD96	3	111263944	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	2236841	111263944	86758486	8	777										
RTP4	64108	broad.mit.edu	37	chr3	187089150	187089150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ttattgtagtcaaatgctttAcatcagaatgatgaaaatag	7	4	2	3			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr3:187089150A>G	ENST00000259030.2	+	2	840	c.730A>G	c.(730-732)Aca>Gca	p.T244A		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	244					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAAATGCTTTACATCAGAATG	0.378																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(730-732)Aca>Gca		receptor (chemosensory) transporter protein 4							47	41	43					3																	187089150		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089150A>G	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.730A>G	3.37:g.187089150A>G	ENSP00000259030:p.Thr244Ala						p.T244A	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	840	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		244					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.730A>G	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	6.939	0.543016	0.13250	.	.	ENSG00000136514	ENST00000259030	T	0.18960	2.18	3.9	-3.41	0.04839	.	4.991230	0.00424	N	0.000068	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33137	-0.9880	10	0.87932	D	0	6.2582	4.565	0.12180	0.2054:0.0:0.3787:0.4159	.	244	Q96DX8	RTP4_HUMAN	A	244	ENSP00000259030:T244A	ENSP00000259030:T244A	T	+	1	0	RTP4	188571844	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.544000	0.06077	-0.604000	0.05760	-0.333000	0.08304	ACA		0.378	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		11	16	0	0	0	1	0	11	16					G	187089150	A	G	187089150	3	3	42	1	0	0	0	0	1	0	0	0	13736	391	14	4	736	4	RTP4	3	187089150	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	75825206	187089150	10933280	9	778										
PROM1	8842	broad.mit.edu	37	chr4	15989292	15989292	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	aagtaaacccttaccaacaaTccattccctgtgcgttgaag	6	12	0	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr4:15989292T>A	ENST00000510224.1	-	20	2372	c.2124A>T	c.(2122-2124)ggA>ggT	p.G708G	PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000505450.1_Silent_p.G699G|PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000543373.1_Silent_p.G699G|PROM1_ENST00000540805.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G			O43490	PROM1_HUMAN	prominin 1	708					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTACCAACAATCCATTCCCTG	0.353																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(2095-2097)ggA>ggT		prominin 1							175	169	171					4																	15989292		1826	4087	5913	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15989292T>A	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.2124A>T	4.37:g.15989292T>A						PROM1_ENST00000539194.1_Silent_p.G708G|PROM1_ENST00000540805.1_Silent_p.G708G|PROM1_ENST00000508167.1_Silent_p.G699G|PROM1_ENST00000447510.2_Silent_p.G708G|PROM1_ENST00000510224.1_Silent_p.G708G|PROM1_ENST00000543373.1_Silent_p.G699G	p.G699G	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			19	2709	-			708					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.2097A>T	CCDS47029.1																																																																																				0.353	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		23	109	0	0	0	1	0	23	109					A	15989292	T	A	15989292	2	1	42	1	0	0	0	0	0	0	0	1	12555	1422	50	5		5	PROM1	4	15989292	Silent	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08		15989292	175164984	10	779										
GUCY1A3	2982	broad.mit.edu	37	chr4	156632137	156632137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	cccccagcaaaccccagtccTcgctggtgattcccacatcg	7	19	0	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr4:156632137T>C	ENST00000296518.7	+	6	1029	c.820T>C	c.(820-822)Tcg>Ccg	p.S274P	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	274					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACCCCAGTCCTCGCTGGTGAT	0.458																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(820-822)Tcg>Ccg		guanylate cyclase 1, soluble, alpha 3							111	106	107					4																	156632137		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632137T>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.820T>C	4.37:g.156632137T>C	ENSP00000296518:p.Ser274Pro					GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274P|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16P	p.S274P			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	1029	+	all_hematologic(180;0.24)	Renal(120;0.0854)	274					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.820T>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238171	0.79800	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.76	4.56	0.56223	Haem NO binding associated (1);	0.104953	0.42964	D	0.000633	D	0.89392	0.6702	L	0.36672	1.1	0.41172	D	0.986177	D;D;D	0.53619	0.961;0.961;0.961	P;P;P	0.57846	0.828;0.828;0.828	D	0.89015	0.3431	10	0.49607	T	0.09	.	12.5278	0.56096	0.125:0.0:0.0:0.8749	.	274;274;274	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	P	274;274;274;274;16;274;274	ENSP00000424361:S274P;ENSP00000421493:S274P;ENSP00000426968:S274P;ENSP00000412201:S274P;ENSP00000377418:S16P;ENSP00000296518:S274P;ENSP00000426040:S274P	ENSP00000296518:S274P	S	+	1	0	GUCY1A3	156851587	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.452000	0.60054	1.087000	0.41251	0.523000	0.50628	TCG		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			4	77	0	0	0	1	0	4	77					C	156632137	T	C	156632137	3	2	42	1	0	0	0	0	1	0	0	0	6894	1551	54	4	834	4	GUCY1A3	4	156632137	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	140642845	156632137	34522139	11	780										
C5orf25	375484	broad.mit.edu	37	chr5	175764121	175764121	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	gttgagcatctgcagtttctGctgtccagttatcaacatgt	9	9	3	1	rs370669736		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr5:175764121G>C	ENST00000443967.1	+	11	2735	c.2328G>C	c.(2326-2328)ctG>ctC	p.L776L	SIMC1_ENST00000332772.4_Silent_p.L237L|SIMC1_ENST00000341199.6_Silent_p.L361L|SIMC1_ENST00000430704.2_Silent_p.L361L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	776							SUMO polymer binding (GO:0032184)										TGCAGTTTCTGCTGTCCAGTT	0.408																																						ENST00000443967.1																			0											c.(2326-2328)ctG>ctC		SUMO-interacting motifs containing 1		G		0,4406		0,0,2203	204	201	202		1083	0.9	0.9	5		202	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf25	NM_198567.4		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		361/458	175764121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175764121G>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2328G>C	5.37:g.175764121G>C						SIMC1_ENST00000430704.2_Silent_p.L361L|SIMC1_ENST00000332772.4_Silent_p.L237L|SIMC1_ENST00000341199.6_Silent_p.L361L	p.L776L							11	2735	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.2328G>C																																																																																					0.408	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		17	90	0	0	0	1	0	17	90					C	175764121	G	C	175764121	2	2	42	1	0	0	0	0	0	0	0	1	2288	1306	46	5		5	C5orf25	5	175764121	Silent	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		175764121	5151139	12	781										
HECA	51696	broad.mit.edu	37	chr6	139488311	139488311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ggaagttcattctggccgcgCtcagtgccagccacagaaac	11	13	3	1	rs200417003		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr6:139488311C>T	ENST00000367658.2	+	2	1447	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F	RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	388					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCTGGCCGCGCTCAGTGCCAG	0.577													C|||	1	0.000199681	0	0.0014	5008	,	,		17196	0		0	False		,,,				2504	0					ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1162-1164)Ctc>Ttc		headcase homolog (Drosophila)							51	46	48					6																	139488311		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139488311C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1162C>T	6.37:g.139488311C>T	ENSP00000356630:p.Leu388Phe					RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA	p.L388F	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1447	+			388						Missense_Mutation	SNP	ENST00000367658.2	37	c.1162C>T	CCDS5194.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.1	4.489696	0.84962	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.07	5.07	0.68467	.	0.057651	0.64402	D	0.000001	T	0.62636	0.2444	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66976	-0.5787	9	0.87932	D	0	.	18.6449	0.91407	0.0:1.0:0.0:0.0	.	388	Q9UBI9	HDC_HUMAN	F	388	.	ENSP00000356630:L388F	L	+	1	0	HECA	139530004	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	5.532000	0.67154	2.642000	0.89623	0.563000	0.77884	CTC		0.577	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		12	45	0	0	0	1	0	12	45					T	139488311	C	T	139488311	3	4	42	1	0	0	0	0	1	0	0	0	7038	797	28	3	1168	3	HECA	6	139488311	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		139488311	31626756	13	782										
CPSF4	10898	broad.mit.edu	37	chr7	99054072	99054072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	cagtgtggcgagaaaggacaCtacgccaacagatgcaccaa	11	11	0	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr7:99054072C>T	ENST00000292476.5	+	8	769	c.759C>T	c.(757-759)caC>caT	p.H253H	CPSF4_ENST00000441580.1_Silent_p.H175H|CPSF4_ENST00000451876.1_Silent_p.H195H|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Silent_p.H228H|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	253					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAAAGGACACTACGCCAACA	0.577																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(682-684)caC>caT		cleavage and polyadenylation specific factor 4, 30kDa							90	77	82					7																	99054072		2203	4300	6503	SO:0001819	synonymous_variant	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99054072C>T		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.759C>T	7.37:g.99054072C>T						ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000292476.5_Silent_p.H253H|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Silent_p.H195H|CPSF4_ENST00000441580.1_Silent_p.H175H	p.H228H	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			8	845	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		253					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Silent	SNP	ENST00000292476.5	37	c.684C>T	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031925	0.54790	.	.	ENSG00000160917	ENST00000452047;ENST00000440514	T	0.33654	1.4	6.01	4.19	0.49359	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43065	-0.9414	6	0.87932	D	0	-20.1672	8.7233	0.34454	0.0:0.736:0.0:0.264	.	.	.	.	I	164;150	ENSP00000392584:T164I	ENSP00000415188:T150I	T	+	2	0	CPSF4	98892008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.282000	0.43461	2.851000	0.98039	0.609000	0.83330	ACT		0.577	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			15	23	0	0	0	1	0	15	23					T	99054072	C	T	99054072	2	4	42	1	0	0	0	0	0	0	0	1	3828	564	20	3		3	CPSF4	7	99054072	Silent	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		99054072	60084591	14	783										
CPA4	51200	broad.mit.edu	37	chr7	129948219	129948219	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	gtgctgacccaaatagaaacTggaacgctagttttgcaggt	11	8	0	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr7:129948219T>G	ENST00000222482.4	+	8	803	c.775T>G	c.(775-777)Tgg>Ggg	p.W259G	CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	259					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AAATAGAAACTGGAACGCTAG	0.562																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(775-777)Tgg>Ggg		carboxypeptidase A4							94	83	87					7																	129948219		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129948219T>G	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.775T>G	7.37:g.129948219T>G	ENSP00000222482:p.Trp259Gly					CPA4_ENST00000493259.1_Missense_Mutation_p.W155G|CPA4_ENST00000445470.2_Missense_Mutation_p.W226G	p.W259G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			8	803	+	Melanoma(18;0.0435)		259					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.775T>G	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037455	0.75617	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.14144	2.53;2.53;2.53	5.8	5.8	0.92144	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.65170	-0.6233	10	0.87932	D	0	.	14.1132	0.65137	0.0:0.0:0.0:1.0	.	226;259	B7Z576;Q9UI42	.;CBPA4_HUMAN	G	226;259;64;155	ENSP00000412947:W226G;ENSP00000222482:W259G;ENSP00000419660:W155G	ENSP00000222482:W259G	W	+	1	0	CPA4	129735455	1.000000	0.71417	0.995000	0.50966	0.757000	0.42996	7.507000	0.81676	2.213000	0.71641	0.477000	0.44152	TGG		0.562	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		5	50	0	0	0	1	0	5	50					G	129948219	T	G	129948219	3	3	42	1	0	0	0	0	1	0	0	0	3792	1580	55	5	805	5	CPA4	7	129948219	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	30894147	129948219	29190444	15	784										
DOCK8	81704	broad.mit.edu	37	chr9	441994	441994	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	attaccaagcttcctgagatCtcacatagactagaggtaag	8	9	1	3			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:441994C>T	ENST00000453981.1	+	42	5587	c.5475C>T	c.(5473-5475)atC>atT	p.I1825I	DOCK8_ENST00000382329.1_Silent_p.I1292I|DOCK8_ENST00000432829.2_Silent_p.I1757I|DOCK8_ENST00000469391.1_Silent_p.I1725I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1825	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTCCTGAGATCTCACATAGAC	0.403																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5269-5271)atC>atT		dedicator of cytokinesis 8							108	105	106					9																	441994		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:441994C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5475C>T	9.37:g.441994C>T						DOCK8_ENST00000453981.1_Silent_p.I1825I|DOCK8_ENST00000382329.1_Silent_p.I1292I|DOCK8_ENST00000469391.1_Silent_p.I1725I	p.I1757I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	42	5587	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1825			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.5271C>T	CCDS6440.2																																																																																				0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		10	85	0	0	0	1	0	10	85					T	441994	C	T	441994	2	4	42	1	0	0	0	0	0	0	0	1	4693	903	32	3		3	DOCK8	9	441994	Silent	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		441994	140771437	16	785										
PIGO	84720	broad.mit.edu	37	chr9	35092369	35092369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	agcactagatctagcttcagCtcaatagttcccaggagtcc	8	12	3	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:35092369C>T	ENST00000378617.3	-	7	1909	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.E505E|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	505					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAGCTTCAGCTCAATAGTTC	0.582																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1513-1515)gaG>gaA		phosphatidylinositol glycan anchor biosynthesis, class O							55	57	57					9																	35092369		2203	4300	6503	SO:0001819	synonymous_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092369C>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1515G>A	9.37:g.35092369C>T						PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.E505E	p.E505E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1909	-			505					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	c.1515G>A	CCDS6575.1																																																																																				0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		10	49	0	0	0	1	0	10	49					T	35092369	C	T	35092369	2	4	42	1	0	0	0	0	0	0	0	1	11894	796	28	3		3	PIGO	9	35092369	Silent	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08	34650375	35092369	106121062	17	786										
C5	727	broad.mit.edu	37	chr9	123742463	123742463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	cgcagaaatggccaatgtaaAggtgctctgggctggcagtg	15	8	1	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr9:123742463A>C	ENST00000223642.1	-	28	3585	c.3556T>G	c.(3556-3558)Ttt>Gtt	p.F1186V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1186					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)			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)	GCCAATGTAAAGGTGCTCTGG	0.408																																						ENST00000223642.1																			0				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.(3556-3558)Ttt>Gtt		complement component 5	Eculizumab(DB01257)						142	140	141					9																	123742463		2203	4300	6503	SO:0001583	missense	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.chr9:123742463A>C	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.3556T>G	9.37:g.123742463A>C	ENSP00000223642:p.Phe1186Val						p.F1186V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	28	3585	-			1186					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3556T>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355313	0.61293	.	.	ENSG00000106804	ENST00000223642	T	0.35421	1.31	5.13	5.13	0.70059	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.057909	0.64402	D	0.000001	T	0.43523	0.1251	M	0.78916	2.43	0.46849	D	0.999224	B	0.28713	0.22	B	0.33121	0.158	T	0.44651	-0.9314	10	0.52906	T	0.07	.	12.6951	0.56999	1.0:0.0:0.0:0.0	.	1186	P01031	CO5_HUMAN	V	1186	ENSP00000223642:F1186V	ENSP00000223642:F1186V	F	-	1	0	C5	122782284	1.000000	0.71417	0.974000	0.42286	0.947000	0.59692	5.235000	0.65348	1.932000	0.55993	0.533000	0.62120	TTT		0.408	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		21	77	0	0	0	1	0	21	77					C	123742463	A	C	123742463	3	2	42	1	0	0	0	0	1	0	0	0	2280	72	3	5	1530	5	C5	9	123742463	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08	88650094	123742463	17470968	18	787										
AFAP1L2	84632	broad.mit.edu	37	chr10	116062114	116062114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	tcacaagagagagtttttggCcgcactcacaatacaggaga	10	9	2	3			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr10:116062114C>T	ENST00000304129.4	-	12	1443	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A472T|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	472					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.A472T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGTTTTTGGCCGCACTCACA	0.547																																						ENST00000369271.3																			1	Substitution - Missense(1)	p.A472T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1414-1416)Gcc>Acc		actin filament associated protein 1-like 2							152	169	163					10																	116062114		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062114C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1414G>A	10.37:g.116062114C>T	ENSP00000303042:p.Ala472Thr					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A525T|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A472T	p.A472T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1714	-		Colorectal(252;0.175)|Breast(234;0.231)	472					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1414G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397481	0.96009	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.16897	2.31;2.31;2.31	5.67	5.67	0.87782	.	0.112592	0.64402	D	0.000012	T	0.47021	0.1423	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.993;0.998;0.998;0.999;0.998	T	0.44065	-0.9352	10	0.72032	D	0.01	-32.3907	19.773	0.96379	0.0:1.0:0.0:0.0	.	525;38;526;500;472;472	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	T	472;472;499;525	ENSP00000358276:A472T;ENSP00000303042:A472T;ENSP00000444511:A525T	ENSP00000303042:A472T	A	-	1	0	AFAP1L2	116052104	1.000000	0.71417	0.962000	0.40283	0.980000	0.70556	7.456000	0.80751	2.677000	0.91161	0.655000	0.94253	GCC		0.547	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		5	159	0	0	0	1	0	5	159					T	116062114	C	T	116062114	3	4	42	1	0	0	0	0	1	0	0	0	355	739	26	3	1074	3	AFAP1L2	10	116062114	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		116062114	19472633	19	788										
SPRYD5	84767	broad.mit.edu	37	chr11	55653270	55653270	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	tccaactctcaggagcaccgGaatcacatacactgtcccat	6	15	2	0			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr11:55653270G>A	ENST00000449290.2	+	2	458	c.366G>A	c.(364-366)cgG>cgA	p.R122R	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	122						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCACCGGAATCACATAC	0.478																																						ENST00000449290.2																			0											c.(364-366)cgG>cgA		tripartite motif-containing 51							18	17	17					11																	55653270		692	1591	2283	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55653270G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.366G>A	11.37:g.55653270G>A							p.R122R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	458	+			122					A6NMG2	Silent	SNP	ENST00000449290.2	37	c.366G>A																																																																																					0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		8	67	0	0	0	1	0	8	67					A	55653270	G	A	55653270	2	1	42	1	0	0	0	0	0	0	0	1	15110	1161	41	3		3	SPRYD5	11	55653270	Silent	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		55653270	79353246	20	789										
SNX19	399979	broad.mit.edu	37	chr11	130785052	130785052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	aagatacccacgagtacaagGtggatccagtcaggatctga	11	9	2	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr11:130785052G>C	ENST00000265909.4	-	1	1352	c.783C>G	c.(781-783)caC>caG	p.H261Q	SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	261	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CGAGTACAAGGTGGATCCAGT	0.547																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(781-783)caC>caG		sorting nexin 19							82	84	84					11																	130785052		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130785052G>C	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.783C>G	11.37:g.130785052G>C	ENSP00000265909:p.His261Gln					SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.H261Q|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron	p.H261Q	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1352	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	261			PXA.		E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.783C>G	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966965	0.34754	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.13901	2.97;2.55	5.58	4.67	0.58626	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.043540	0.85682	D	0.000000	T	0.25121	0.0610	L	0.47716	1.5	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.59595	0.86;0.86	T	0.00928	-1.1511	10	0.87932	D	0	-11.8199	10.8752	0.46906	0.1439:0.0:0.8561:0.0	.	261;261	E9PKB9;Q92543	.;SNX19_HUMAN	Q	261	ENSP00000265909:H261Q;ENSP00000435390:H261Q	ENSP00000265909:H261Q	H	-	3	2	SNX19	130290262	1.000000	0.71417	0.999000	0.59377	0.480000	0.33159	2.057000	0.41365	1.364000	0.46038	-0.128000	0.14901	CAC		0.547	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		19	75	0	0	0	1	0	19	75					C	130785052	G	C	130785052	3	2	42	1	0	0	0	0	1	0	0	0	14890	1252	44	5	2239	5	SNX19	11	130785052	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	75131782	130785052	4221464	21	790										
KLRD1	3824	broad.mit.edu	37	chr12	10462061	10462061	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	tttcgttgatgtctacgttgGgaattttgttgaaaaattgt	10	3	1	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr12:10462061G>T	ENST00000381907.4	+	3	284	c.82G>T	c.(82-84)Gga>Tga	p.G28*	KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000381908.3_Nonsense_Mutation_p.G28*	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	28					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GTCTACGTTGGGAATTTTGTT	0.343																																						ENST00000381908.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(82-84)Gga>Tga		killer cell lectin-like receptor subfamily D, member 1							104	94	97					12																	10462061		2203	4300	6503	SO:0001587	stop_gained	3824				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10462061G>T	U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.82G>T	12.37:g.10462061G>T	ENSP00000371332:p.Gly28*					KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000381907.4_Nonsense_Mutation_p.G28*|KLRD1_ENST00000543420.1_Nonsense_Mutation_p.G28*|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Nonsense_Mutation_p.G28*	p.G28*			Q13241	KLRD1_HUMAN			2	342	+			28					O43321|O43773|Q9UBE3|Q9UEQ0	Nonsense_Mutation	SNP	ENST00000381907.4	37	c.82G>T	CCDS8621.1	.	.	.	.	.	.	.	.	.	.	G	35	5.537811	0.96460	.	.	ENSG00000134539	ENST00000381907;ENST00000381908;ENST00000336164;ENST00000543420;ENST00000543777	.	.	.	4.82	4.82	0.62117	.	0.309004	0.23676	N	0.045678	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.1213	0.65189	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000338130:G28X	G	+	1	0	KLRD1	10353328	1.000000	0.71417	0.602000	0.28890	0.019000	0.09904	1.303000	0.33470	2.602000	0.87976	0.591000	0.81541	GGA		0.343	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2	NM_002262		15	69	1	0	3.32936e-07	1	3.39218e-07	15	69					T	10462061	G	T	10462061	4	4	42	1	0	0	0	0	0	1	0	0	8419	1233	43	5	88	5	KLRD1	12	10462061	Nonsense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		10462061	123389834	22	791										
POLR3B	55703	broad.mit.edu	37	chr12	106897897	106897897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	gtctcgtgatggtggcttgcGtctcggggaaatggaacgtg	17	7	2	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr12:106897897G>A	ENST00000228347.4	+	27	3359	c.3137G>A	c.(3136-3138)cGt>cAt	p.R1046H	POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1046					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGGCTTGCGTCTCGGGGAA	0.418																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(3136-3138)cGt>cAt		polymerase (RNA) III (DNA directed) polypeptide B							257	222	234					12																	106897897		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106897897G>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3137G>A	12.37:g.106897897G>A	ENSP00000228347:p.Arg1046His					RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.R988H	p.R1046H	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			27	3359	+			1046					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.3137G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605987	0.96626	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.87650	-2.28;-2.28	5.75	5.75	0.90469	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.99974	5.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99201	1.0873	10	0.87932	D	0	-15.9032	19.9598	0.97242	0.0:0.0:1.0:0.0	.	1046	Q9NW08	RPC2_HUMAN	H	1046;988	ENSP00000228347:R1046H;ENSP00000445721:R988H	ENSP00000228347:R1046H	R	+	2	0	POLR3B	105422027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.716000	0.92895	0.655000	0.94253	CGT		0.418	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		6	131	0	0	0	1	0	6	131					A	106897897	G	A	106897897	3	1	42	1	0	0	0	0	1	0	0	0	12229	1145	40	1	3243	1	POLR3B	12	106897897	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	96435836	106897897	26953998	23	792										
DCAF11	80344	broad.mit.edu	37	chr14	24592285	24592285	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	agagaagattgtcagcagttCggtgaggttgcaagggttga	16	4	1	4			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr14:24592285C>T	ENST00000446197.3	+	14	2232	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91F|DCAF11_ENST00000396936.1_Splice_Site_p.S402L|DCAF11_ENST00000396941.4_Splice_Site_p.S476L|DCAF11_ENST00000559115.1_Splice_Site_p.S502L	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	502					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.S502L(1)									GTCAGCAGTTCGGTGAGGTTG	0.572																																						ENST00000446197.3																			1	Substitution - Missense(1)	p.S502L(1)	large_intestine(1)								c.e14+1		DDB1 and CUL4 associated factor 11							140	118	125					14																	24592285		2203	4300	6503	SO:0001630	splice_region_variant	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24592285C>T	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1506+1C>T	14.37:g.24592285C>T						DCAF11_ENST00000396936.1_Splice_Site_p.S402_splice|RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91_splice|DCAF11_ENST00000559115.1_Splice_Site_p.S502_splice|DCAF11_ENST00000396941.4_Splice_Site_p.S476_splice	p.S502_splice	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			14	2232	+			502					B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Splice_Site	SNP	ENST00000446197.3	37	c.1506_splice	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.092934	0.94149	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.74421	-0.84;-0.84	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.988;0.999;1.0;0.996	P;P;D;D;P	0.78314	0.889;0.592;0.937;0.991;0.788	D	0.94078	0.7341	10	0.87932	D	0	-6.6235	16.5604	0.84551	0.0:1.0:0.0:0.0	.	425;476;402;502;502	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	L	502;476;402;476	ENSP00000380142:S402L;ENSP00000380146:S476L	ENSP00000323680:S502L	S	+	2	0	DCAF11	23662125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.737000	0.74816	2.778000	0.95560	0.655000	0.94253	TCG		0.572	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Missense_Mutation	14	43	0	0	0	1	0	14	43					T	24592285	C	T	24592285	5	4	42	1	0	0	0	0	0	0	1	0	4262	898	31	2	1555	2	DCAF11	14	24592285	Splice_Site	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		24592285	82757255	24	793										
TRIP11	9321	broad.mit.edu	37	chr14	92470283	92470283	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ttagctcttctaactcttgcTgaagcaattcagaagattca	6	9	5	3	rs200785955		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr14:92470283T>C	ENST00000267622.4	-	11	4410	c.4037A>G	c.(4036-4038)cAg>cGg	p.Q1346R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1346				QQ -> HE (in Ref. 5; AAB84386). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAACTCTTGCTGAAGCAATTC	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4036-4038)cAg>cGg		thyroid hormone receptor interactor 11							89	90	90					14																	92470283		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470283T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4037A>G	14.37:g.92470283T>C	ENSP00000267622:p.Gln1346Arg						p.Q1346R	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	4410	-			1346	QQ -> HE (in Ref. 4; AAB84386).				B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.4037A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	2.411	-0.335304	0.05278	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.04119	3.7	3.85	2.7	0.31948	.	0.460006	0.22711	N	0.056561	T	0.04227	0.0117	L	0.50333	1.59	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.45556	-0.9253	10	0.14656	T	0.56	.	3.2645	0.06860	0.1723:0.1935:0.0:0.6342	.	1082;1346	F5H1Z0;Q15643	.;TRIPB_HUMAN	R	1346;1082	ENSP00000267622:Q1346R	ENSP00000267622:Q1346R	Q	-	2	0	TRIP11	91540036	0.073000	0.21202	0.011000	0.14972	0.220000	0.24768	0.275000	0.18698	0.366000	0.24427	0.374000	0.22700	CAG		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			17	62	0	0	0	1	0	17	62					C	92470283	T	C	92470283	3	2	42	1	0	0	0	0	1	0	0	0	16552	1580	55	4	1946	4	TRIP11	14	92470283	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	67877998	92470283	14879257	25	794										
VPS13C	54832	broad.mit.edu	37	chr15	62253881	62253881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	acaccagactgaactgattaTgaactctgattaacccaaga	6	10	1	6			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr15:62253881T>C	ENST00000261517.5	-	35	3888	c.3815A>G	c.(3814-3816)cAt>cGt	p.H1272R	VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAACTGATTATGAACTCTGAT	0.383																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3814-3816)cAt>cGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							106	104	104					15																	62253881		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62253881T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3815A>G	15.37:g.62253881T>C	ENSP00000261517:p.His1272Arg					VPS13C_ENST00000249837.3_Missense_Mutation_p.H1229R|VPS13C_ENST00000395896.4_Missense_Mutation_p.H1272R|VPS13C_ENST00000395898.3_Missense_Mutation_p.H1229R	p.H1272R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			35	3888	-			1272						Missense_Mutation	SNP	ENST00000261517.5	37	c.3815A>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	8.689	0.906930	0.17833	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.12774	2.65;2.65;2.65	5.76	5.76	0.90799	.	0.677816	0.14338	N	0.325921	T	0.08714	0.0216	N	0.08118	0	0.24977	N	0.991624	B;B;B;B	0.12013	0.005;0.005;0.003;0.003	B;B;B;B	0.17722	0.019;0.013;0.004;0.009	T	0.30563	-0.9974	10	0.15499	T	0.54	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	1229;1272;1229;1272	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	1229;1272;1272;1272	ENSP00000249837:H1229R;ENSP00000261517:H1272R;ENSP00000379233:H1272R	ENSP00000249837:H1229R	H	-	2	0	VPS13C	60041173	0.998000	0.40836	0.914000	0.36105	0.942000	0.58702	3.055000	0.49916	2.185000	0.69588	0.460000	0.39030	CAT		0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		35	63	0	0	0	1	0	35	63					C	62253881	T	C	62253881	3	2	42	1	0	0	0	0	1	0	0	0	17188	1464	51	4	7678	4	VPS13C	15	62253881	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08		62253881	40277511	26	795										
MLLT6	4302	broad.mit.edu	37	chr17	36881820	36881820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ctctttccagaccgctgacaAaggagcctcagccaaccagg	9	15	2	2	rs145698748		TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:36881820A>G	ENST00000325718.7	+	20	3342	c.3251A>G	c.(3250-3252)aAa>aGa	p.K1084R		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	1084					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCGCTGACAAAGGAGCCTCA	0.582			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3250-3252)aAa>aGa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6		A	ARG/LYS	2,4404	4.2+/-10.8	0,2,2201	56	54	54		3251	4.3	1	17	dbSNP_134	54	0,8600		0,0,4300	yes	missense	MLLT6	NM_005937.3	26	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign	1084/1094	36881820	2,13004	2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36881820A>G		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.3251A>G	17.37:g.36881820A>G	ENSP00000316426:p.Lys1084Arg						p.K1084R	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			20	3342	+	Breast(7;4.43e-21)		1084					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.3251A>G	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847765	0.51164	4.54E-4	0.0	ENSG00000108292	ENST00000325718	T	0.54866	0.55	5.37	4.3	0.51218	.	0.000000	0.64402	D	0.000004	T	0.46405	0.1391	L	0.58101	1.795	0.33227	D	0.555458	B	0.06786	0.001	B	0.06405	0.002	T	0.56007	-0.8050	10	0.66056	D	0.02	.	7.6784	0.28499	0.9073:0.0:0.0927:0.0	.	1084	P55198	AF17_HUMAN	R	1084	ENSP00000316426:K1084R	ENSP00000316426:K1084R	K	+	2	0	MLLT6	34135346	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.549000	0.45803	1.069000	0.40788	0.533000	0.62120	AAA		0.582	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		4	26	0	0	0	1	0	4	26					G	36881820	A	G	36881820	3	3	42	1	0	0	0	0	1	0	0	0	9630	14	1	4	3329	4	MLLT6	17	36881820	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08		36881820	44313390	27	796										
AOC3	8639	broad.mit.edu	37	chr17	41003755	41003755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ggccatcgtcttctttggcaGgcaaccccagcccaacgtga	10	15	2	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr17:41003755G>A	ENST00000308423.2	+	1	555	c.395G>A	c.(394-396)aGg>aAg	p.R132K	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	132					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TTCTTTGGCAGGCAACCCCAG	0.677																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(394-396)aGg>aAg		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						9	10	10					17																	41003755		2077	4071	6148	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41003755G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.395G>A	17.37:g.41003755G>A	ENSP00000312326:p.Arg132Lys						p.R132K	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	555	+		Breast(137;0.000143)	132					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.395G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770031	0.00645	.	.	ENSG00000131471	ENST00000308423	T	0.28255	1.62	4.75	-1.54	0.08584	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	1.049840	0.07407	N	0.891659	T	0.12646	0.0307	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31530	-0.9940	10	0.21014	T	0.42	.	11.6568	0.51324	0.1254:0.7335:0.1412:0.0	.	132	Q16853	AOC3_HUMAN	K	132	ENSP00000312326:R132K	ENSP00000312326:R132K	R	+	2	0	AOC3	38257281	0.000000	0.05858	0.007000	0.13788	0.241000	0.25554	-0.217000	0.09253	-0.038000	0.13624	0.591000	0.81541	AGG		0.677	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		7	31	0	0	0	1	0	7	31					A	41003755	G	A	41003755	3	1	42	1	0	0	0	0	1	0	0	0	728	1000	35	3	397	3	AOC3	17	41003755	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	4121935	41003755	40191455	28	797										
THOC1	9984	broad.mit.edu	37	chr18	246364	246364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ttgcaaaatatacatgttctCctcctgttttcaattcttcc	3	11	3	0			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr18:246364C>T	ENST00000261600.6	-	11	885	c.878G>A	c.(877-879)gGa>gAa	p.G293E	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	293					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACATGTTCTCCTCCTGTTTT	0.274																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(877-879)gGa>gAa		THO complex 1							48	47	47					18																	246364		1783	4054	5837	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:246364C>T	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.878G>A	18.37:g.246364C>T	ENSP00000261600:p.Gly293Glu					THOC1_ENST00000582313.1_5'UTR	p.G293E	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			11	885	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	293					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.878G>A	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308658	0.60305	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.923;0.993	T	0.62263	-0.6891	9	0.05351	T	0.99	-18.902	14.866	0.70416	0.0:0.9314:0.0:0.0686	.	293;293	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	E	293	.	ENSP00000261600:G293E	G	-	2	0	THOC1	236364	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.468000	0.80943	1.457000	0.47850	0.655000	0.94253	GGA		0.274	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		7	41	0	0	0	1	0	7	41					T	246364	C	T	246364	3	4	42	1	0	0	0	0	1	0	0	0	15861	855	30	3	1139	3	THOC1	18	246364	Missense_Mutation	SNP	C	TCGA-QR-A70K-01A-12D-A35D-08		246364	77830884	29	798										
TXNDC2	84203	broad.mit.edu	37	chr18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	acccatccagcccaagctggGcaatattcccaaggcctcag	8	16	1	0			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr18:9886961G>A	ENST00000306084.6	+	2	684	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D|TXNDC2_ENST00000357775.5_Missense_Mutation_p.G95D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(484-486)gGc>gAc		thioredoxin domain containing 2 (spermatozoa)							123	131	128					18																	9886961		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886961G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.485G>A	18.37:g.9886961G>A	ENSP00000304908:p.Gly162Asp					TXNDC2_ENST00000357775.4_Missense_Mutation_p.G95D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D	p.G162D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	684	+			162			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.485G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	8.901	0.956346	0.18507	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.41758	1.94;0.99;0.99	3.16	-6.33	0.01988	.	1.685430	0.03585	N	0.230870	T	0.25082	0.0609	N	0.14661	0.345	0.09310	N	1	B	0.33637	0.42	B	0.37198	0.243	T	0.21655	-1.0239	9	.	.	.	-1.0E-4	7.5046	0.27536	0.3653:0.4185:0.2161:0.0	.	162	Q86VQ3	TXND2_HUMAN	D	95;95;162;162	ENSP00000437393:G95D;ENSP00000350419:G95D;ENSP00000304908:G162D	.	G	+	2	0	TXNDC2	9876961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.096000	0.00606	-2.727000	0.00386	-0.368000	0.07277	GGC		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	141	0	0	0	1	0	4	141					A	9886961	G	A	9886961	3	1	42	1	0	0	0	0	1	0	0	0	16794	1203	42	3	491	3	TXNDC2	18	9886961	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08	9640597	9886961	68190287	30	799										
MBOAT7	79143	broad.mit.edu	37	chr19	54692324	54692324	+	Frame_Shift_Del	DEL	A	A	-													0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	aagccgatggggatggagatAagaagaaccactagatacgt							TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr19:54692324delA	ENST00000245615.1	-	2	519	c.39delT	c.(37-39)cttfs	p.L13fs	MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.L13fs|TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000302937.4_5'Flank|TSEN34_ENST00000396388.2_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000474910.1_Intron|MBOAT7_ENST00000431666.2_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	13					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATGGAGATAAGAAGAACCA	0.567											OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(37-39)ctfs		membrane bound O-acyltransferase domain containing 7							47	47	47					19																	54692324		2188	4268	6456	SO:0001589	frameshift_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692324delA	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.39delT	19.37:g.54692324delA	ENSP00000245615:p.Leu13fs		OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000474910.1_Intron|MBOAT7_ENST00000391754.1_Frame_Shift_Del_p.L13fs	p.L13fs	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			2	519	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		13					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Frame_Shift_Del	DEL	ENST00000245615.1	37	c.39delT	CCDS12883.1																																																																																				0.567	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		2	4						2	4	---	---	---	---	-	54692324	A	-	54692324	7	5	42	1	0	1	0	1	0	0	0	0	9358	349	13	0	1411	0	MBOAT7	19	54692324	Frame_Shift_Del	DEL	A	TCGA-QR-A70K-01A-12D-A35D-08		54692324	4436659	31	800										
PYGB	5834	broad.mit.edu	37	chr20	25273158	25273158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	ccatcggcaccatggacggcGccaacgtggagatggccgag	15	13	0	1			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr20:25273158G>A	ENST00000216962.4	+	17	2196	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	696					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CATGGACGGCGCCAACGTGGA	0.647																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2086-2088)Gcc>Acc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						77	72	74					20																	25273158		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25273158G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2086G>A	20.37:g.25273158G>A	ENSP00000216962:p.Ala696Thr						p.A696T	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			17	2196	+			696					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.2086G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665160	0.96745	.	.	ENSG00000100994	ENST00000216962	D	0.95103	-3.61	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	H	0.99090	4.425	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	D	0.99712	1.1007	10	0.87932	D	0	-33.9554	16.8738	0.86046	0.0:0.0:1.0:0.0	.	696	P11216	PYGB_HUMAN	T	696	ENSP00000216962:A696T	ENSP00000216962:A696T	A	+	1	0	PYGB	25221158	1.000000	0.71417	0.945000	0.38365	0.981000	0.71138	9.482000	0.97935	2.385000	0.81259	0.462000	0.41574	GCC		0.647	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		21	81	0	0	0	1	0	21	81					A	25273158	G	A	25273158	3	1	42	1	0	0	0	0	1	0	0	0	12860	1087	38	1	2152	1	PYGB	20	25273158	Missense_Mutation	SNP	G	TCGA-QR-A70K-01A-12D-A35D-08		25273158	37752362	32	801										
FAM83D	81610	broad.mit.edu	37	chr20	37576619	37576619	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	gttcacgttgattgatggcaTccgcgtggcaacaggctcct	12	11	1	2			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr20:37576619T>A	ENST00000217429.4	+	3	883	c.842T>A	c.(841-843)aTc>aAc	p.I281N		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	251					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTGATGGCATCCGCGTGGCA	0.418																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(841-843)aTc>aAc		family with sequence similarity 83, member D							103	97	99					20																	37576619		1969	4158	6127	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37576619T>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.842T>A	20.37:g.37576619T>A	ENSP00000217429:p.Ile281Asn						p.I281N	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			3	883	+		Myeloproliferative disorder(115;0.00878)	251					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.842T>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.036466	0.35893	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.10477	2.87	6.16	6.16	0.99307	.	0.099623	0.64402	D	0.000002	T	0.07234	0.0183	N	0.05124	-0.11	0.44024	D	0.996748	P	0.40282	0.711	B	0.41374	0.355	T	0.51426	-0.8707	10	0.17369	T	0.5	.	16.4795	0.84153	0.0:0.0:0.0:1.0	.	251	Q9H4H8	FA83D_HUMAN	N	281;235	ENSP00000217429:I281N	ENSP00000217429:I281N	I	+	2	0	FAM83D	37010033	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.893000	0.63199	2.367000	0.80283	0.528000	0.53228	ATC		0.418	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			12	75	0	0	0	1	0	12	75					A	37576619	T	A	37576619	3	1	42	1	0	0	0	0	1	0	0	0	5636	1435	50	5	852	5	FAM83D	20	37576619	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08	12303461	37576619	25448901	33	802										
JOSD1	9929	broad.mit.edu	37	chr22	39085109	39085109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	catgatgaagcccatgacgtTagtgagggcaatgacaccga	12	9	0	5			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chr22:39085109T>C	ENST00000216039.5	-	3	1019	c.340A>G	c.(340-342)Aac>Gac	p.N114D		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	114	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					CCCATGACGTTAGTGAGGGCA	0.552																																						ENST00000216039.5																			0				large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5						c.(340-342)Aac>Gac		Josephin domain containing 1							74	64	67					22																	39085109		2203	4300	6503	SO:0001583	missense	9929						peptidase activity	g.chr22:39085109T>C		CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.340A>G	22.37:g.39085109T>C	ENSP00000216039:p.Asn114Asp						p.N114D	NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN			3	1019	-	Melanoma(58;0.04)		114			Josephin.		A8K712	Missense_Mutation	SNP	ENST00000216039.5	37	c.340A>G	CCDS13976.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792596	0.70452	.	.	ENSG00000100221	ENST00000216039;ENST00000427389	T;T	0.41065	1.01;1.01	5.76	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.62918	-0.6752	10	0.22109	T	0.4	.	11.7065	0.51599	0.0:0.0688:0.0:0.9312	.	114	Q15040	JOS1_HUMAN	D	114	ENSP00000216039:N114D;ENSP00000410010:N114D	ENSP00000216039:N114D	N	-	1	0	JOSD1	37415055	1.000000	0.71417	0.924000	0.36721	0.583000	0.36354	6.279000	0.72620	1.009000	0.39289	-0.256000	0.11100	AAC		0.552	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	NM_014876		7	15	0	0	0	1	0	7	15					C	39085109	T	C	39085109	3	2	42	1	0	0	0	0	1	0	0	0	7958	1754	61	4	276	4	JOSD1	22	39085109	Missense_Mutation	SNP	T	TCGA-QR-A70K-01A-12D-A35D-08		39085109	12219457	34	803										
FGF16	8823	broad.mit.edu	37	chrX	76709702	76709702	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0285714285714286	1	1	0.327107279693487	0	0.367995689655172	1	1	0	gatcagcatccggggagtggActctggcctgtacctaggaa	14	10	2	0			TCGA-QR-A70K-01A-12D-A35D-08	TCGA-QR-A70K-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b364e89-dcc0-4745-bbdb-815f52c81377	cb60fb86-b526-4433-8244-3174f160d475	g.chrX:76709702A>G	ENST00000439435.1	+	1	55	c.55A>G	c.(55-57)Act>Gct	p.T19A				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of brown fat cell proliferation (GO:0070349)|response to temperature stimulus (GO:0009266)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(1)|lung(2)	4						CGGGGAGTGGACTCTGGCCTG	0.428																																						ENST00000439435.1																			0				NS(1)|breast(1)|lung(2)	4						c.(55-57)Act>Gct		fibroblast growth factor 16							87	81	83					X																	76709702		1918	4116	6034	SO:0001583	missense	8823				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity	g.chrX:76709702A>G	AB009391	CCDS75996.1	Xq21.1	2014-01-31			ENSG00000196468	ENSG00000196468			3672	protein-coding gene	gene with protein product		300827	"metacarpal 4-5 fusion"	MF4		9473496, 11474196, 23709756	Standard	NM_003868		Approved		uc011mqp.2	O43320	OTTHUMG00000013133	ENST00000439435.1:c.55A>G	X.37:g.76709702A>G	ENSP00000399324:p.Thr19Ala						p.T19A			O43320	FGF16_HUMAN			1	55	+			0						Missense_Mutation	SNP	ENST00000439435.1	37	c.55A>G		.	.	.	.	.	.	.	.	.	.	A	12.87	2.068734	0.36470	.	.	ENSG00000196468	ENST00000439435	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	T	0.62551	0.2437	.	.	.	.	.	.	.	.	.	.	.	.	T	0.70641	-0.4816	3	.	.	.	.	12.9364	0.58316	1.0:0.0:0.0:0.0	.	.	.	.	A	19	.	.	T	+	1	0	FGF16	76596358	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.037000	0.93765	1.691000	0.51100	0.486000	0.48141	ACT		0.428	FGF16-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036814.1	NM_003868		6	9	0	0	0	1	0	6	9					G	76709702	A	G	76709702	3	3	42	1	0	0	0	0	1	0	0	0	5844	275	10	4	58	4	FGF16	23	76709702	Missense_Mutation	SNP	A	TCGA-QR-A70K-01A-12D-A35D-08		76709702	78560858	35	804										
ECE1	1889	broad.mit.edu	37	chr1	21573845	21573845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	aaaggcaaccagttgatggcGggtgccaaggtctgcaaggg	16	8	1	1			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr1:21573845G>A	ENST00000374893.6	-	9	1106	c.1032C>T	c.(1030-1032)ccC>ccT	p.P344P	ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Silent_p.P332P|ECE1_ENST00000415912.2_Silent_p.P328P|ECE1_ENST00000436918.2_Silent_p.P344P|ECE1_ENST00000264205.6_Silent_p.P341P	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	344					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTTGATGGCGGGTGCCAAGG	0.537																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(982-984)ccC>ccT		endothelin converting enzyme 1							134	126	129					1																	21573845		2203	4300	6503	SO:0001819	synonymous_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21573845G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1032C>T	1.37:g.21573845G>A						ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Silent_p.P344P|ECE1_ENST00000374893.6_Silent_p.P344P|ECE1_ENST00000357071.4_Silent_p.P332P|ECE1_ENST00000264205.6_Silent_p.P341P	p.P328P	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	9	1109	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	344					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.984C>T	CCDS215.1																																																																																				0.537	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		3	30	0	0	0	1	0	3	30					A	21573845	G	A	21573845	2	1	43	1	0	0	0	0	0	0	0	1	4889	1103	39	2		2	ECE1	1	21573845	Silent	SNP	G	TCGA-QR-A70M-01A-11D-A35D-08		21573845	227676776	1	805										
ABCA13	154664	broad.mit.edu	37	chr7	48314803	48314803	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	ctgcaatgtccatgggctcaTgtcttcttccttttatggca	8	11	3	0			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:48314803T>G	ENST00000435803.1	+	17	5564	c.5540T>G	c.(5539-5541)aTg>aGg	p.M1847R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1847					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATGGGCTCATGTCTTCTTCC	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5539-5541)aTg>aGg		ATP-binding cassette, sub-family A (ABC1), member 13							61	60	60					7																	48314803		1883	4112	5995	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314803T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5540T>G	7.37:g.48314803T>G	ENSP00000411096:p.Met1847Arg						p.M1847R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5564	+			1847					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5540T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	4.825	0.153456	0.09185	.	.	ENSG00000179869	ENST00000435803	T	0.15017	2.46	5.65	0.223	0.15292	.	2.354250	0.01931	N	0.041250	T	0.12475	0.0303	L	0.34521	1.04	0.09310	N	1	P	0.35363	0.497	B	0.28553	0.091	T	0.21552	-1.0242	9	.	.	.	.	6.0895	0.19987	0.0:0.1873:0.3887:0.4239	.	1847	Q86UQ4	ABCAD_HUMAN	R	1847	ENSP00000411096:M1847R	.	M	+	2	0	ABCA13	48285349	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.434000	0.06939	0.075000	0.16796	0.377000	0.23210	ATG		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	20	0	0	0	1	0	15	20					G	48314803	T	G	48314803	3	3	43	1	0	0	0	0	1	0	0	0	31	1464	51	5	5435	5	ABCA13	7	48314803	Missense_Mutation	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08		48314803	110823860	2	806										
DDC	1644	broad.mit.edu	37	chr7	50595871	50595871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	ccagccgctttgtctctctcCagggcttcctgcagggcaga	11	15	2	1			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:50595871C>T	ENST00000444124.2	-	6	878	c.678G>A	c.(676-678)ctG>ctA	p.L226L	DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000426377.1_Silent_p.L148L|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.L226L	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	226					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGTCTCTCTCCAGGGCTTCCT	0.512																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(676-678)ctG>ctA		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						78	76	77					7																	50595871		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595871C>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.678G>A	7.37:g.50595871C>T						DDC_ENST00000380984.4_Silent_p.L226L|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Silent_p.L148L|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Silent_p.L226L	p.L226L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			6	878	-	Glioma(55;0.08)|all_neural(89;0.245)		226					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.678G>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	7.647	0.682075	0.14907	.	.	ENSG00000132437	ENST00000430300	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5574	9.4013	0.38435	0.0:0.8494:0.0:0.1506	.	.	.	.	X	107	.	.	W	-	2	0	DDC	50563365	1.000000	0.71417	0.974000	0.42286	0.625000	0.37756	1.565000	0.36386	2.879000	0.98667	0.650000	0.86243	TGG		0.512	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			12	53	0	0	0	1	0	12	53					T	50595871	C	T	50595871	2	4	43	1	0	0	0	0	0	0	0	1	4325	581	21	3		3	DDC	7	50595871	Silent	SNP	C	TCGA-QR-A70M-01A-11D-A35D-08	2281068	50595871	108542792	3	807										
SLC13A4	26266	broad.mit.edu	37	chr7	135370341	135370341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	aaactcagtgacaatggacaCgaggatgcatgccagcaggg	13	9	1	1	rs372605570		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:135370341C>T	ENST00000354042.4	-	14	2223	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	512					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACAATGGACACGAGGATGCAT	0.567																																						ENST00000354042.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1534-1536)Gtg>Atg		solute carrier family 13 (sodium/sulfate symporter), member 4		C	MET/VAL	0,4406		0,0,2203	201	173	182		1534	6	1	7		182	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC13A4	NM_012450.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	512/627	135370341	1,13005	2203	4300	6503	SO:0001583	missense	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135370341C>T	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1534G>A	7.37:g.135370341C>T	ENSP00000297282:p.Val512Met					C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	p.V512M	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			14	2223	-			512					A4D1Q4|Q8N631	Missense_Mutation	SNP	ENST00000354042.4	37	c.1534G>A	CCDS5840.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005035	0.93287	0.0	1.16E-4	ENSG00000164707	ENST00000354042	T	0.03468	3.92	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00002	-1.2620	10	0.87932	D	0	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	381;512	Q59HF0;Q9UKG4	.;S13A4_HUMAN	M	512	ENSP00000297282:V512M	ENSP00000297282:V512M	V	-	1	0	SLC13A4	135020881	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.027000	0.70881	2.861000	0.98227	0.655000	0.94253	GTG		0.567	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		48	71	0	0	0	1	0	48	71					T	135370341	C	T	135370341	3	4	43	1	0	0	0	0	1	0	0	0	14394	536	19	1	358	1	SLC13A4	7	135370341	Missense_Mutation	SNP	C	TCGA-QR-A70M-01A-11D-A35D-08	84774470	135370341	23768322	4	808										
ZNF862	643641	broad.mit.edu	37	chr7	149545325	149545325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	attctaccccccagggcctcTgggaggatttgatagcatgg	12	11	2	1			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr7:149545325T>C	ENST00000223210.4	+	4	988	c.743T>C	c.(742-744)cTg>cCg	p.L248P		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCAGGGCCTCTGGGAGGATTT	0.582																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(742-744)cTg>cCg		zinc finger protein 862							19	21	20					7																	149545325		1842	4096	5938	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545325T>C	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.743T>C	7.37:g.149545325T>C	ENSP00000223210:p.Leu248Pro						p.L248P	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			4	988	+			248					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.743T>C	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702466	0.48307	.	.	ENSG00000106479	ENST00000223210	T	0.02121	4.44	4.68	3.52	0.40303	.	0.000000	0.36066	N	0.002810	T	0.03827	0.0108	L	0.32530	0.975	0.51233	D	0.999914	D	0.54601	0.967	P	0.52909	0.713	T	0.52260	-0.8599	10	0.87932	D	0	-18.8686	7.598	0.28058	0.1885:0.0:0.0:0.8115	.	248	O60290	ZN862_HUMAN	P	248	ENSP00000223210:L248P	ENSP00000223210:L248P	L	+	2	0	ZNF862	149176258	0.994000	0.37717	0.997000	0.53966	0.616000	0.37450	1.579000	0.36536	0.817000	0.34445	0.533000	0.62120	CTG		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		12	10	0	0	0	1	0	12	10					C	149545325	T	C	149545325	3	2	43	1	0	0	0	0	1	0	0	0	18192	1580	55	4	757	4	ZNF862	7	149545325	Missense_Mutation	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08	14174984	149545325	9593338	5	809										
WISP1	8840	broad.mit.edu	37	chr8	134232871	134232871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	atggggtgcgctacaacaacGgccagtccttccagcctaac	10	14	0	0			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr8:134232871G>A	ENST00000250160.6	+	3	503	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	133	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTACAACAACGGCCAGTCCTT	0.667																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(397-399)Ggc>Agc		WNT1 inducible signaling pathway protein 1							97	81	87					8																	134232871		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232871G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.397G>A	8.37:g.134232871G>A	ENSP00000250160:p.Gly133Ser					WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	p.G133S	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	503	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		133			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.397G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934765	0.92458	.	.	ENSG00000104415	ENST00000250160	T	0.73575	-0.76	4.63	4.63	0.57726	von Willebrand factor, type C (3);	0.052098	0.85682	D	0.000000	D	0.88005	0.6321	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.91002	0.4843	10	0.87932	D	0	-8.8846	16.4485	0.83972	0.0:0.0:1.0:0.0	.	133	O95388	WISP1_HUMAN	S	133	ENSP00000250160:G133S	ENSP00000250160:G133S	G	+	1	0	WISP1	134302053	1.000000	0.71417	0.931000	0.37212	0.743000	0.42351	9.612000	0.98347	2.127000	0.65507	0.460000	0.39030	GGC		0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		27	43	0	0	0	1	0	27	43					A	134232871	G	A	134232871	3	1	43	1	0	0	0	0	1	0	0	0	17369	1116	39	2	407	2	WISP1	8	134232871	Missense_Mutation	SNP	G	TCGA-QR-A70M-01A-11D-A35D-08		134232871	12131151	6	810										
C10orf71	118461	broad.mit.edu	37	chr10	50534970	50534977	+	3'UTR	DEL	ACACACAC	ACACACAC	-													0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	cccctcccccaaaacaagcaAcacacacacacacacacaca					rs72337199		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr10:50534970_50534977delACACACAC	ENST00000374144.3	+	0	4668_4675				C10orf71_ENST00000323868.4_Splice_Site_p.T693fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						AAAACAAGCAacacacacacacacacac	0.505																																						ENST00000323868.4																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)	1						c.e4-1		chromosome 10 open reading frame 71																																				SO:0001624	3_prime_UTR_variant	118461							g.chr10:50534970_50534977delACACACAC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*79ACACACAC>-	10.37:g.50534978_50534985delACACACAC						C10orf71_ENST00000374144.3_3'UTR	p.692_splice	NM_001135196.1	NP_001128668.1	Q711Q0	CJ071_HUMAN			4	2413_2415	+			692					A0AVL8	Splice_Site	DEL	ENST00000374144.3	37	c.2074_splice	CCDS44387.1																																																																																				0.505	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		4	2						4	2	---	---	---	---	-	50534977	ACACACAC	-	50534970	6	5	43	0	1	1	0	1	0	0	0	0	1614	58	2	0		0	C10orf71	10	50534970	3'UTR	DEL	ACACACAC	TCGA-QR-A70M-01A-11D-A35D-08		50534970	84999777	7	811										
PGBD3	267004	broad.mit.edu	37	chr10	50724947	50724947	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	gggatcatctgagtcagactCagcatcagagccatcttgaa	10	10	6	4			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr10:50724947C>T	ENST00000374127.3	-	2	415	c.214G>A	c.(214-216)Gag>Aag	p.E72K	PGBD3_ENST00000603152.1_Missense_Mutation_p.E540K|PGBD3_ENST00000508005.2_Missense_Mutation_p.E72K|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E540K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E540K	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	72										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAGTCAGACTCAGCATCAGAG	0.453																																						ENST00000515869.1																			0											c.(1618-1620)Gag>Aag									140	133	135					10																	50724947		2203	4300	6503	SO:0001583	missense	101243544							g.chr10:50724947C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.214G>A	10.37:g.50724947C>T	ENSP00000363242:p.Glu72Lys					PGBD3_ENST00000508005.2_Missense_Mutation_p.E72K|PGBD3_ENST00000374127.3_Missense_Mutation_p.E72K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E540K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E540K|ERCC6_ENST00000355832.5_Intron	p.E540K	NM_001277059.1	NP_001263988.1					6	1738	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.1618G>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800542	0.50315	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.16457	2.34;2.34;3.31;3.31	0.468	0.468	0.16732	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.21579	N	0.999633	B;B	0.32753	0.383;0.043	B;B	0.21708	0.036;0.007	T	0.37150	-0.9718	8	0.09590	T	0.72	-32.6777	.	.	.	.	540;72	E7EV46;Q8N328	.;PGBD3_HUMAN	K	72;72;540;540	ENSP00000363242:E72K;ENSP00000426963:E72K;ENSP00000423550:E540K;ENSP00000387966:E540K	ENSP00000387966:E540K	E	-	1	0	PGBD3;RP11-123B3.6	50394953	0.990000	0.36364	0.877000	0.34402	0.866000	0.49608	1.611000	0.36879	0.488000	0.27723	0.491000	0.48974	GAG		0.453	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			6	95	0	0	0	1	0	6	95					T	50724947	C	T	50724947	3	4	43	1	0	0	0	0	1	0	0	0	11782	835	29	3	1571	3	PGBD3	10	50724947	Missense_Mutation	SNP	C	TCGA-QR-A70M-01A-11D-A35D-08	189977	50724947	84809800	8	812										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		57	10	0	0	0	1	0	57	10					C	533874	T	C	533874	3	2	43	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A70M-01A-11D-A35D-08		533874	134472642	9	813										
LOC100132247	100132247	broad.mit.edu	37	chr16	22546262	22546262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	1	1	1.34615384615385	NA	1.34615384615385	1	1	0	gataatatcaagacacctgcCgagcgtctgcgggggccgct	13	12	2	1			TCGA-QR-A70M-01A-11D-A35D-08	TCGA-QR-A70M-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0e1131e-5535-4486-b713-f1fffb65f6c4	abfa77cd-8240-4def-86b6-16fe97e5596f	g.chr16:22546262C>T	ENST00000517539.1	+	8	2033	c.1958C>T	c.(1957-1959)cCg>cTg	p.P653L	NPIPB5_ENST00000424340.1_Missense_Mutation_p.P653L|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	653	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGC	0.582																																						ENST00000424340.1																			0											c.(1957-1959)cCg>cTg		nuclear pore complex interacting protein family, member B5							3	4	4					16																	22546262		622	1441	2063	SO:0001583	missense	100132247							g.chr16:22546262C>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1958C>T	16.37:g.22546262C>T	ENSP00000430633:p.Pro653Leu					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.P653L	p.P653L	NM_001135865.1	NP_001129337.1					7	2237	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1958C>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.131841	0.00338	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.23348	1.91;1.91	.	.	.	.	.	.	.	.	T	0.14570	0.0352	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.34104	-0.9842	4	0.21014	T	0.42	.	.	.	.	.	646;653	F5GWX0;A8MRT5	.;K220L_HUMAN	L	653;646;410;531;653	ENSP00000440703:P653L;ENSP00000430633:P653L	ENSP00000441680:P646L	P	+	2	0	RP11-368J21.2	22453763	0.031000	0.19500	.	.	.	.	0.064000	0.14437	.	.	.	.	CCG		0.582	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		4	117	0	0	0	1	0	4	117					T	22546262	C	T	22546262	3	4	43	1	0	0	0	0	1	0	0	0	8868	652	23	2	1984	2	LOC100132247	16	22546262	Missense_Mutation	SNP	C	TCGA-QR-A70M-01A-11D-A35D-08		22546262	67808491	10	814										
LRRC7	57554	broad.mit.edu	37	chr1	70504190	70504190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccgtttgaagacaggaccGcttttccttccaaattagag	9	10	0	3			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:70504190G>A	ENST00000035383.5	+	19	2599	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LRRC7_ENST00000310961.5_Missense_Mutation_p.A862T|LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A857T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACAGGACCGCTTTTCCTTC	0.468																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.A857T(1)	endometrium(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2584-2586)Gct>Act		leucine rich repeat containing 7							80	89	86					1																	70504190		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504190G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2569G>A	1.37:g.70504190G>A	ENSP00000035383:p.Ala857Thr					LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T|LRRC7_ENST00000035383.5_Missense_Mutation_p.A857T	p.A862T			Q96NW7	LRRC7_HUMAN			22	3002	+			857					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2584G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437615	0.83885	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.56275	0.47;0.57;1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	T	0.53258	-0.8464	10	0.28530	T	0.3	.	19.3033	0.94151	0.0:0.0:1.0:0.0	.	141;857;857	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	862;857;141;680	ENSP00000309245:A862T;ENSP00000035383:A857T;ENSP00000394867:A141T	ENSP00000035383:A857T	A	+	1	0	LRRC7	70276778	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	9.447000	0.97595	2.809000	0.96659	0.467000	0.42956	GCT		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		10	39	0	0	0	1	0	10	39					A	70504190	G	A	70504190	3	1	44	1	0	0	0	0	1	0	0	0	9020	1087	38	1	2643	1	LRRC7	1	70504190	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08		70504190	178746431	1	815										
COL11A1	1301	broad.mit.edu	37	chr1	103400017	103400017	+	Silent	SNP	T	T	G													0	0	1	0	0	0	1	1	0	catcttacctgaagacctatTggaccaggaggtccagggaa							TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:103400017T>G	ENST00000370096.3	-	46	3900	c.3588A>C	c.(3586-3588)ccA>ccC	p.P1196P	COL11A1_ENST00000353414.4_Silent_p.P1157P|COL11A1_ENST00000358392.2_Silent_p.P1208P|COL11A1_ENST00000512756.1_Silent_p.P1080P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1196	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAAGACCTATTGGACCAGGAG	0.468																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3622-3624)ccA>ccC		collagen, type XI, alpha 1							88	80	83					1																	103400017		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400017T>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3588A>C	1.37:g.103400017T>G						COL11A1_ENST00000353414.4_Silent_p.P1157P|COL11A1_ENST00000512756.1_Silent_p.P1080P|COL11A1_ENST00000370096.3_Silent_p.P1196P	p.P1208P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3941	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1196			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.3624A>C	CCDS778.1																																																																																				0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	19	0	0	0	1	0	5	19					G	103400017	T	G	103400017	2	3	44	1	0	0	0	0	0	0	0	1	3667	1799	63	5		5	COL11A1	1	103400017	Silent	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08	32895827	103400017	145850604	2	816	6	2								
COL11A1	1301	broad.mit.edu	37	chr1	103400018	103400018	+	Missense_Mutation	SNP	G	G	T													0	0	1	0	0	0	1	1	0	atcttacctgaagacctattGgaccaggaggtccagggaag							TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:103400018G>T	ENST00000370096.3	-	46	3899	c.3587C>A	c.(3586-3588)cCa>cAa	p.P1196Q	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1157Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1208Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1080Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1196	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGACCTATTGGACCAGGAGG	0.468																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3622-3624)cCa>cAa		collagen, type XI, alpha 1							89	81	84					1																	103400018		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400018G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3587C>A	1.37:g.103400018G>T	ENSP00000359114:p.Pro1196Gln					COL11A1_ENST00000353414.4_Missense_Mutation_p.P1157Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1080Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1196Q	p.P1208Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3940	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1196			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3623C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715996	0.68844	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96913	-4.17;-4.1;-4.17;-4.17	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.989;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.981;0.999;0.997;0.998	D	0.98494	1.0611	10	0.87932	D	0	.	19.1416	0.93448	0.0:0.0:1.0:0.0	.	1080;1157;1208;1196;416	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Q	1196;1208;1157;416;1080	ENSP00000359114:P1196Q;ENSP00000351163:P1208Q;ENSP00000302551:P1157Q;ENSP00000426533:P1080Q	ENSP00000302551:P1157Q	P	-	2	0	COL11A1	103172606	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.781000	0.99029	2.589000	0.87451	0.655000	0.94253	CCA		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	21	1	0	1.23904e-05	1	1.28329e-05	5	21					T	103400018	G	T	103400018	3	4	44	1	0	0	0	0	1	0	0	0	3667	1348	47	5	1921	5	COL11A1	1	103400018	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08	1	103400018	145850603	3	817	6	2								
WARS2	10352	broad.mit.edu	37	chr1	119575971	119575971	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcacgtagggattttacctTcttcatggatgctaggttaa	9	7	3	0			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:119575971T>A	ENST00000235521.4	-	6	672	c.646A>T	c.(646-648)Aag>Tag	p.K216*	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Nonsense_Mutation_p.K122*	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	216					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GATTTTACCTTCTTCATGGAT	0.438																																						ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(646-648)Aag>Tag		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						170	168	169					1																	119575971		2203	4300	6503	SO:0001587	stop_gained	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575971T>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.646A>T	1.37:g.119575971T>A	ENSP00000235521:p.Lys216*					WARS2_ENST00000537870.1_Nonsense_Mutation_p.K122*|WARS2_ENST00000369426.5_3'UTR	p.K216*	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	672	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	216					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Nonsense_Mutation	SNP	ENST00000235521.4	37	c.646A>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.823176	0.90873	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	.	.	.	5.87	5.87	0.94306	.	0.132994	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-21.9079	16.27	0.82612	0.0:0.0:0.0:1.0	.	.	.	.	X	216;122	.	ENSP00000235521:K216X	K	-	1	0	WARS2	119377494	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.456000	0.80751	2.248000	0.74166	0.533000	0.62120	AAG		0.438	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		17	94	0	0	0	1	0	17	94					A	119575971	T	A	119575971	4	1	44	1	0	0	0	0	0	1	0	0	17247	1792	62	5	440	5	WARS2	1	119575971	Nonsense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08	16175953	119575971	129674650	4	818										
PLXNA2	5362	broad.mit.edu	37	chr1	208212983	208212983	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccagggtcttgtactcgaTctgctgccggatgagcttgt	12	11	2	1			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr1:208212983T>C	ENST00000367033.3	-	24	5240	c.4483A>G	c.(4483-4485)Atc>Gtc	p.I1495V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1495					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTGTACTCGATCTGCTGCCGG	0.582																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4483-4485)Atc>Gtc		plexin A2							86	90	89					1																	208212983		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208212983T>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4483A>G	1.37:g.208212983T>C	ENSP00000356000:p.Ile1495Val						p.I1495V	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	24	5240	-			1495					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4483A>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165272	0.78339	.	.	ENSG00000076356	ENST00000367033	T	0.11169	2.8	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	L	0.42632	1.34	0.80722	D	1	D	0.54772	0.968	D	0.71184	0.972	T	0.00571	-1.1665	10	0.38643	T	0.18	.	15.6604	0.77182	0.0:0.0:0.0:1.0	.	1495	O75051	PLXA2_HUMAN	V	1495	ENSP00000356000:I1495V	ENSP00000356000:I1495V	I	-	1	0	PLXNA2	206279606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.016000	0.70798	2.095000	0.63458	0.528000	0.53228	ATC		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		10	49	0	0	0	1	0	10	49					C	208212983	T	C	208212983	3	2	44	1	0	0	0	0	1	0	0	0	12120	1435	50	4	1237	4	PLXNA2	1	208212983	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08	88637012	208212983	41037638	5	819										
ALS2	57679	broad.mit.edu	37	chr2	202619377	202619377	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcacccgtgcagcctttcTtaagagcctgggggaaactg	11	11	2	1			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr2:202619377T>C	ENST00000264276.6	-	6	1861	c.1489A>G	c.(1489-1491)Aga>Gga	p.R497G		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	497					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GCAGCCTTTCTTAAGAGCCTG	0.498																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(1489-1491)Aga>Gga		amyotrophic lateral sclerosis 2 (juvenile)							71	71	71					2																	202619377		1875	4098	5973	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202619377T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1489A>G	2.37:g.202619377T>C	ENSP00000264276:p.Arg497Gly						p.R497G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			6	1861	-			497					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.1489A>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.610966	0.66558	.	.	ENSG00000003393	ENST00000264276	T	0.59083	0.29	6.07	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.964;0.964	T	0.65780	-0.6085	10	0.56958	D	0.05	.	14.5777	0.68262	0.0:0.0:0.49:0.51	.	497;497;497	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	G	497	ENSP00000264276:R497G	ENSP00000264276:R497G	R	-	1	2	ALS2	202327622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.812000	0.38952	0.509000	0.28195	-0.313000	0.08912	AGA		0.498	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		11	50	0	0	0	1	0	11	50					C	202619377	T	C	202619377	3	2	44	1	0	0	0	0	1	0	0	0	550	1617	56	4	3600	4	ALS2	2	202619377	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08		202619377	40579996	6	820										
VHL	7428	broad.mit.edu	37	chr3	10188286	10188286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgccatctctcaatgttgaCggacagcctatttttgccaa	8	11	2	1			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr3:10188286C>G	ENST00000256474.2	+	2	1269	c.429C>G	c.(427-429)gaC>gaG	p.D143E	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	143	Involved in binding to CCT complex.		D -> E (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G144fs*14(4)|p.D143E(2)|p.D143fs*16(2)|p.V142fs*30(1)|p.Q145fs*30(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCAATGTTGACGGACAGCCTA	0.423		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		14	Deletion - Frameshift(11)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.G144fs*14(4)|p.D143E(2)|p.D143fs*16(2)|p.V142fs*30(1)|p.Q145fs*30(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)	kidney(13)|adrenal_gland(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CD951875	VHL	D		c.(427-429)gaC>gaG		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							219	202	208					3																	10188286		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188286C>G	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.429C>G	3.37:g.10188286C>G	ENSP00000256474:p.Asp143Glu					VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.D143E	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1269	+			143		D -> E (in VHLD; type II).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.429C>G	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952917	0.34471	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99823	-6.95	5.07	-2.72	0.05968	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.344265	0.32719	N	0.005731	D	0.98235	0.9416	N	0.19112	0.55	0.80722	D	1	B	0.17268	0.021	B	0.17979	0.02	D	0.93621	0.6948	10	0.20519	T	0.43	0.1775	11.0594	0.47938	0.0:0.5225:0.0:0.4775	.	143	P40337	VHL_HUMAN	E	143;61	ENSP00000256474:D143E	ENSP00000256474:D143E	D	+	3	2	VHL	10163286	0.996000	0.38824	0.987000	0.45799	0.861000	0.49209	0.102000	0.15272	-0.425000	0.07371	-0.471000	0.05019	GAC		0.423	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		59	59	0	0	0	1	0	59	59					G	10188286	C	G	10188286	3	3	44	1	0	0	0	0	1	0	0	0	17159	535	19	5	435	5	VHL	3	10188286	Missense_Mutation	SNP	C	TCGA-QR-A70N-01A-12D-A35D-08		10188286	187834144	7	821										
PCDHGA6	56109	broad.mit.edu	37	chr5	140753701	140753701	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgagcaggtcctgctcctCacgctcctggggacgctgtg	14	14	1	0			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr5:140753701C>A	ENST00000517434.1	+	1	51	c.51C>A	c.(49-51)ctC>ctA	p.L17L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	17					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCTCCTCACGCTCCTGG	0.597																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(49-51)ctC>ctA									14	17	16					5																	140753701		1997	4186	6183	SO:0001819	synonymous_variant	56109							g.chr5:140753701C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.51C>A	5.37:g.140753701C>A						PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.L17L	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	51	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.51C>A	CCDS54926.1																																																																																				0.597	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	17	1	0	0.004672	1	0.004672	3	17					A	140753701	C	A	140753701	2	1	44	1	0	0	0	0	0	0	0	1	11558	813	29	5		5	PCDHGA6	5	140753701	Silent	SNP	C	TCGA-QR-A70N-01A-12D-A35D-08		140753701	40161559	8	822										
WHSC1L1	54904	broad.mit.edu	37	chr8	38175553	38175553	+	Intron	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgcactccccggtccgccGaccctgtggaatggtggaaa	12	15	0	0			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr8:38175553G>T	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S620*|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCGGTCCGCCGACCCTGTGGA	0.557			T	NUP98	AML																																	ENST00000316985.3				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1858-1860)tCg>tAg		Wolf-Hirschhorn syndrome candidate 1-like 1							65	61	63					8																	38175553		2203	4300	6503	SO:0001627	intron_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38175553G>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+859C>A	8.37:g.38175553G>T						WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000317025.8_Intron|WHSC1L1_ENST00000525081.1_5'UTR	p.S620*	NM_017778.2	NP_060248.2	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		10	2376	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	620					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.1859C>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	41	8.572971	0.98868	.	.	ENSG00000147548	ENST00000316985	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	15.8933	0.79318	0.0:0.0:1.0:0.0	.	.	.	.	X	620	.	ENSP00000313410:S620X	S	-	2	0	WHSC1L1	38294710	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.563000	0.36364	2.824000	0.97209	0.655000	0.94253	TCG		0.557	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		21	23	1	0	1.87028e-06	1	2.00882e-06	21	23					T	38175553	G	T	38175553	1	4	44	0	1	0	0	0	0	0	0	0	17360	1059	37	5		5	WHSC1L1	8	38175553	Intron	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08		38175553	108188469	9	823										
TRAF2	7186	broad.mit.edu	37	chr9	139804402	139804402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggtctgccccaagttccccTtaacttgtgacggctgcggc	11	14	1	1			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr9:139804402T>G	ENST00000247668.2	+	6	611	c.559T>G	c.(559-561)Tta>Gta	p.L187V	TRAF2_ENST00000536468.1_Missense_Mutation_p.L187V|TRAF2_ENST00000359662.3_Missense_Mutation_p.L239V|TRAF2_ENST00000482854.1_3'UTR	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	187					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CAAGTTCCCCTTAACTTGTGA	0.627																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(715-717)Tta>Gta		TNF receptor-associated factor 2							97	75	83					9																	139804402		2203	4300	6503	SO:0001583	missense	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139804402T>G	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.559T>G	9.37:g.139804402T>G	ENSP00000247668:p.Leu187Val					TRAF2_ENST00000247668.2_Missense_Mutation_p.L187V|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.L187V	p.L239V			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	6	760	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	187	Missing (in Ref. 2; BAB70792).				A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	ENST00000247668.2	37	c.715T>G	CCDS7013.1	.	.	.	.	.	.	.	.	.	.	T	9.803	1.181084	0.21787	.	.	ENSG00000127191	ENST00000536468;ENST00000429509;ENST00000247668;ENST00000359662	T;T;T;T	0.25579	1.82;1.79;1.82;1.82	4.53	-8.64	0.00874	Zinc finger, TRAF-type (1);	0.117935	0.53938	N	0.000058	T	0.11707	0.0285	N	0.25992	0.78	0.23731	N	0.996991	B;P;B	0.41102	0.384;0.738;0.006	B;P;B	0.46299	0.389;0.511;0.012	T	0.40270	-0.9572	10	0.02654	T	1	-7.7789	5.6785	0.17761	0.1007:0.4801:0.2047:0.2145	.	176;239;187	Q12933-3;Q12933-2;Q12933	.;.;TRAF2_HUMAN	V	187;187;187;239	ENSP00000446414:L187V;ENSP00000406524:L187V;ENSP00000247668:L187V;ENSP00000352685:L239V	ENSP00000247668:L187V	L	+	1	2	TRAF2	138924223	0.000000	0.05858	0.038000	0.18304	0.430000	0.31655	-1.218000	0.02976	-1.783000	0.01274	-0.441000	0.05720	TTA		0.627	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		13	14	0	0	0	1	0	13	14					G	139804402	T	G	139804402	3	3	44	1	0	0	0	0	1	0	0	0	16435	1606	56	5	577	5	TRAF2	9	139804402	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08		139804402	1409029	10	824										
OR52D1	390066	broad.mit.edu	37	chr11	5510364	5510364	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaccattctcaaccatgctgTcataggcagaattggctttg	8	10	2	1			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr11:5510364T>A	ENST00000322641.5	+	1	450	c.428T>A	c.(427-429)gTc>gAc	p.V143D	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	143					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCATGCTGTCATAGGCAGA	0.483																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(427-429)gTc>gAc		olfactory receptor, family 52, subfamily D, member 1							265	247	253					11																	5510364		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510364T>A	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.428T>A	11.37:g.5510364T>A	ENSP00000326232:p.Val143Asp					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.V143D	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	450	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	143					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.428T>A	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.769300	0.49680	.	.	ENSG00000181609	ENST00000322641	T	0.39229	1.09	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.242522	0.30285	N	0.009964	T	0.55737	0.1939	M	0.89840	3.065	0.31530	N	0.661358	P	0.40302	0.712	P	0.47015	0.534	T	0.71206	-0.4661	10	0.87932	D	0	.	5.8667	0.18779	0.0:0.0822:0.1688:0.7491	.	143	Q9H346	O52D1_HUMAN	D	143	ENSP00000326232:V143D	ENSP00000326232:V143D	V	+	2	0	OR52D1	5466940	0.000000	0.05858	0.966000	0.40874	0.893000	0.52053	0.588000	0.23924	2.343000	0.79666	0.533000	0.62120	GTC		0.483	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		6	113	0	0	0	1	0	6	113					A	5510364	T	A	5510364	3	1	44	1	0	0	0	0	1	0	0	0	11114	1667	58	5	430	5	OR52D1	11	5510364	Missense_Mutation	SNP	T	TCGA-QR-A70N-01A-12D-A35D-08		5510364	129496152	11	825										
PIK3C2A	5286	broad.mit.edu	37	chr11	17111301	17111301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagtttacaagtatgttgccGcagtcagctgataccattta	8	8	1	1	rs201133316		TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr11:17111301G>A	ENST00000265970.7	-	32	5044	c.5045C>T	c.(5044-5046)gCg>gTg	p.A1682V	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1302V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1682					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GTATGTTGCCGCAGTCAGCTG	0.428																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(5044-5046)gCg>gTg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						142	132	136					11																	17111301		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17111301G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.5045C>T	11.37:g.17111301G>A	ENSP00000265970:p.Ala1682Val					PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1302V	p.A1682V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			32	5044	-			1682					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.5045C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811506	0.70797	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.64803	-0.12;0.3	5.58	5.58	0.84498	.	0.099306	0.64402	D	0.000001	T	0.55114	0.1900	L	0.50333	1.59	0.54753	D	0.999989	D	0.56521	0.976	B	0.38655	0.278	T	0.62909	-0.6754	10	0.62326	D	0.03	-16.2899	14.7582	0.69583	0.0:0.0:0.8555:0.1445	.	1682	O00443	P3C2A_HUMAN	V	1682;1302	ENSP00000265970:A1682V;ENSP00000438687:A1302V	ENSP00000265970:A1682V	A	-	2	0	PIK3C2A	17067877	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.390000	0.79816	2.794000	0.96219	0.655000	0.94253	GCG		0.428	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		3	64	0	0	0	1	0	3	64					A	17111301	G	A	17111301	3	1	44	1	0	0	0	0	1	0	0	0	11909	1087	38	1	19	1	PIK3C2A	11	17111301	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08	11600937	17111301	117895215	12	826										
CD163	9332	broad.mit.edu	37	chr12	7651662	7651662	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagttgtctacaaatgacagAtgcatgatctatgttgaagt	9	5	2	4			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr12:7651662A>T	ENST00000359156.4	-	4	782	c.580T>A	c.(580-582)Tct>Act	p.S194T	CD163_ENST00000396620.3_Missense_Mutation_p.S194T|CD163_ENST00000432237.2_Missense_Mutation_p.S194T|CD163_ENST00000541972.1_Missense_Mutation_p.S182T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	194	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAAATGACAGATGCATGATCT	0.423																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(580-582)Tct>Act		CD163 molecule							278	254	262					12																	7651662		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651662A>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.580T>A	12.37:g.7651662A>T	ENSP00000352071:p.Ser194Thr					CD163_ENST00000432237.2_Missense_Mutation_p.S194T|CD163_ENST00000396620.3_Missense_Mutation_p.S194T|CD163_ENST00000541972.1_Missense_Mutation_p.S182T	p.S194T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			4	782	-			194			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.580T>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	8.121	0.780967	0.16120	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.16	-1.19	0.09585	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.945300	0.08849	N	0.884681	T	0.19967	0.0480	N	0.21373	0.66	0.23204	N	0.998124	B;B;B	0.29378	0.153;0.002;0.243	B;B;B	0.27262	0.078;0.005;0.078	T	0.26360	-1.0105	10	0.23891	T	0.37	.	5.609	0.17394	0.2865:0.4357:0.0:0.2778	.	194;194;194	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	T	194;182;194;194	ENSP00000352071:S194T;ENSP00000444071:S182T;ENSP00000379863:S194T;ENSP00000403885:S194T	ENSP00000352071:S194T	S	-	1	0	CD163	7542929	0.000000	0.05858	0.751000	0.31187	0.305000	0.27757	-0.409000	0.07160	0.013000	0.14918	0.528000	0.53228	TCT		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		8	160	0	0	0	1	0	8	160					T	7651662	A	T	7651662	3	4	44	1	0	0	0	0	1	0	0	0	2967	333	12	5	2942	5	CD163	12	7651662	Missense_Mutation	SNP	A	TCGA-QR-A70N-01A-12D-A35D-08		7651662	126200233	13	827										
ZFC3H1	196441	broad.mit.edu	37	chr12	72030395	72030395	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	cacaggatgtgaattgttcaGaactggaggtgaaggtgggt							TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr12:72030395delG	ENST00000378743.3	-	9	2333	c.1975delC	c.(1975-1977)ctgfs	p.L659fs	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	659					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAATTGTTCAGAACTGGAGGT	0.383																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1975-1977)tgfs		zinc finger, C3H1-type containing							164	153	157					12																	72030395		1901	4124	6025	SO:0001589	frameshift_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030395delG	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1975delC	12.37:g.72030395delG	ENSP00000368017:p.Leu659fs						p.L659fs	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			9	2333	-			659					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	c.1975delC	CCDS41813.1																																																																																				0.383	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		22	56						22	56	---	---	---	---	-	72030395	G	-	72030395	7	5	44	1	0	1	0	1	0	0	0	0	17630	933	33	0	4102	0	ZFC3H1	12	72030395	Frame_Shift_Del	DEL	G	TCGA-QR-A70N-01A-12D-A35D-08	64378733	72030395	61821500	14	828										
CCDC40	55036	broad.mit.edu	37	chr17	78058656	78058656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggagctggaccaggacGtgaagaaagtcaacgagctc	15	8	1	2			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr17:78058656G>A	ENST00000397545.4	+	13	2131	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	CCDC40_ENST00000374877.3_Missense_Mutation_p.V702M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	702					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGACCAGGACGTGAAGAAAGT	0.562																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(2104-2106)Gtg>Atg		coiled-coil domain containing 40							60	63	62					17																	78058656		2130	4232	6362	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78058656G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2104G>A	17.37:g.78058656G>A	ENSP00000380679:p.Val702Met					CCDC40_ENST00000374877.3_Missense_Mutation_p.V702M	p.V702M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		13	2131	+	all_neural(118;0.167)		702					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.2104G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919307	0.33908	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.51817	0.69;0.7	5.35	4.38	0.52667	.	.	.	.	.	T	0.36110	0.0955	M	0.65975	2.015	0.26834	N	0.968518	P;P	0.42296	0.775;0.676	B;B	0.29353	0.079;0.101	T	0.40961	-0.9535	9	0.35671	T	0.21	-50.2482	5.0736	0.14618	0.29:0.0:0.71:0.0	.	702;485	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	702	ENSP00000364011:V702M;ENSP00000380679:V702M	ENSP00000364011:V702M	V	+	1	0	CCDC40	75673251	0.986000	0.35501	0.969000	0.41365	0.309000	0.27889	1.459000	0.35234	2.487000	0.83934	0.655000	0.94253	GTG		0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		8	22	0	0	0	1	0	8	22					A	78058656	G	A	78058656	3	1	44	1	0	0	0	0	1	0	0	0	2812	1145	40	1	2154	1	CCDC40	17	78058656	Missense_Mutation	SNP	G	TCGA-QR-A70N-01A-12D-A35D-08		78058656	3136554	15	829										
ZNF493	284443	broad.mit.edu	37	chr19	21606782	21606782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgtgaagaatgtggcaaaAcctttagtgtattctcaatt	8	5	1	2			TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr19:21606782A>G	ENST00000355504.4	+	2	1203	c.937A>G	c.(937-939)Acc>Gcc	p.T313A	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.T441A	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T313A(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATGTGGCAAAACCTTTAGTGT	0.338																																						ENST00000392288.2																			1	Substitution - Missense(1)	p.T313A(1)	prostate(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1321-1323)Acc>Gcc		zinc finger protein 493							29	32	31					19																	21606782		2185	4280	6465	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606782A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.937A>G	19.37:g.21606782A>G	ENSP00000347691:p.Thr313Ala					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.T313A	p.T441A	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1430	+			313					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1321A>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.683025	0.00006	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.35421	1.31;1.31	1.03	-2.07	0.07276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	N	0.01824	-0.7	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.17198	-1.0377	9	0.02654	T	1	.	0.7425	0.00976	0.3856:0.1658:0.2821:0.1665	.	313;441	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	A	441;313	ENSP00000376110:T441A;ENSP00000347691:T313A	ENSP00000347691:T313A	T	+	1	0	ZNF493	21398622	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-2.542000	0.00935	-1.612000	0.01579	-1.635000	0.00777	ACC		0.338	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	36	0	0	0	1	0	3	36					G	21606782	A	G	21606782	3	3	44	1	0	0	0	0	1	0	0	0	17941	43	2	4	1398	4	ZNF493	19	21606782	Missense_Mutation	SNP	A	TCGA-QR-A70N-01A-12D-A35D-08		21606782	37522201	16	830										
MAP3K10	4294	broad.mit.edu	37	chr19	40719906	40719917	+	In_Frame_Del	DEL	CCCTCCCCACCA	CCCTCCCCACCA	-													0	0	1	0	0	0	1	1	0	acgaggccgcaccggccgcgCcctccccaccaccctccccg					rs533682595	byFrequency	TCGA-QR-A70N-01A-12D-A35D-08	TCGA-QR-A70N-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffd4f038-8b57-4f33-b442-576ad662a41e	7a4b6abb-dee6-4d5d-9c6b-39fe7c7c4f60	g.chr19:40719906_40719917delCCCTCCCCACCA	ENST00000253055.3	+	9	2608_2619	c.2320_2331delCCCTCCCCACCA	c.(2320-2331)ccctccccaccadel	p.PSPP778del		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	778					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCGGccgcgccctccccaccaccctccccgc	0.717														14	0.00279553	0.0106	0	5008	,	,		5371	0		0	False		,,,				2504	0					ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(2320-2331)del		mitogen-activated protein kinase kinase kinase 10				44,3676		10,24,1826						0.6	1			6	23,7333		11,1,3666	no	coding	MAP3K10	NM_002446.3		21,25,5492	A1A1,A1R,RR		0.3127,1.1828,0.6049				67,11009				SO:0001651	inframe_deletion	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719906_40719917delCCCTCCCCACCA	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2320_2331delCCCTCCCCACCA	19.37:g.40719906_40719917delCCCTCCCCACCA	ENSP00000253055:p.Pro778_Pro781del						p.PSPP778del	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			9	2608_2619	+			778					Q12761|Q14871	In_Frame_Del	DEL	ENST00000253055.3	37	c.2320_2331delCCCTCCCCACCA	CCDS12549.1																																																																																				0.717	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		7	5						7	5	---	---	---	---	-	40719917	CCCTCCCCACCA	-	40719906	7	5	44	1	0	1	0	1	0	0	0	0	9244	739	26	0	2354	0	MAP3K10	19	40719906	In_Frame_Del	DEL	CCCTCCCCACCA	TCGA-QR-A70N-01A-12D-A35D-08	19113124	40719906	18409077	17	831										
PRKAA2	5563	broad.mit.edu	37	chr1	57111088	57111089	+	Frame_Shift_Ins	INS	-	-	G													0	0	1	0	0	0	1	1	0	gaagcagaagcacgacgggcINSgggtgaagatcggacactac							TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr1:57111088_57111089insG	ENST00000371244.4	+	1	94_95	c.28_29insG	c.(28-30)cggfs	p.R10fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	10					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GCACGACGGGCGGGTGAAGATC	0.703																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(28-30)ggtfs		protein kinase, AMP-activated, alpha 2 catalytic subunit																																				SO:0001589	frameshift_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57111088_57111089insG	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.31dupG	1.37:g.57111091_57111091dupG	ENSP00000360290:p.Arg10fs						p.G10fs	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			1	94_95	+			10					Q9H1E8|Q9UD43	Frame_Shift_Ins	INS	ENST00000371244.4	37	c.28_29insG	CCDS605.1																																																																																				0.703	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		2	4						2	4	---	---	---	---	G	57111089	-	G	57111088	7	5	45	1	0	1	1	0	0	0	0	0	12494	759	27	0	30	0	PRKAA2	1	57111088	Frame_Shift_Ins	INS	-	TCGA-QR-A70O-01A-11D-A35D-08		57111088	192139533	1	832										
LEFTY1	10637	broad.mit.edu	37	chr1	226076584	226076584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcgctgcagcagggccacGtactgggccctcacgtgggt	15	14	1	0	rs570726921		TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr1:226076584G>A	ENST00000272134.5	-	1	262	c.183C>T	c.(181-183)taC>taT	p.Y61Y	LEFTY1_ENST00000492457.1_Intron|RP4-559A3.7_ENST00000432920.2_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	61					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCAGGGCCACGTACTGGGCCC	0.697																																						ENST00000272134.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(181-183)taC>taT		left-right determination factor 1							31	33	32					1																	226076584		2203	4299	6502	SO:0001819	synonymous_variant	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226076584G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.183C>T	1.37:g.226076584G>A						RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	p.Y61Y	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN			1	262	-	Breast(184;0.197)		61					B2R7U0|Q53H67|Q5TE94	Silent	SNP	ENST00000272134.5	37	c.183C>T	CCDS1548.1																																																																																				0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		7	16	0	0	0	1	0	7	16					A	226076584	G	A	226076584	2	1	45	1	0	0	0	0	0	0	0	1	8715	1140	40	1		1	LEFTY1	1	226076584	Silent	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	168965496	226076584	23174037	2	833										
SULT6B1	391365	broad.mit.edu	37	chr2	37406671	37406671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatatcggggacatcgttGtggaaatgcaaaaaagatac	12	5	0	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:37406671G>T	ENST00000535679.1	-	4	458	c.459C>A	c.(457-459)caC>caA	p.H153Q	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.H115Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	153						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GGACATCGTTGTGGAAATGCA	0.363																																						ENST00000535679.1																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(457-459)caC>caA		sulfotransferase family, cytosolic, 6B, member 1							144	136	139					2																	37406671		2203	4300	6503	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37406671G>T	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.459C>A	2.37:g.37406671G>T	ENSP00000444081:p.His153Gln					SULT6B1_ENST00000407963.1_Missense_Mutation_p.H115Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q|SULT6B1_ENST00000379149.2_Intron	p.H153Q			Q6IMI4	ST6B1_HUMAN			4	458	-		all_hematologic(82;0.248)	153					B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.459C>A		.	.	.	.	.	.	.	.	.	.	G	8.898	0.955671	0.18507	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.81330	-1.48;-1.48;-1.48	4.27	1.42	0.22433	Sulfotransferase domain (1);	0.568993	0.19848	N	0.104713	T	0.67988	0.2952	L	0.42529	1.33	0.33972	D	0.646977	B	0.26363	0.147	B	0.28465	0.09	T	0.60910	-0.7169	10	0.29301	T	0.29	.	3.5799	0.07949	0.3905:0.0:0.4399:0.1696	.	153	Q6IMI4	ST6B1_HUMAN	Q	153;115;115	ENSP00000444081:H153Q;ENSP00000260637:H115Q;ENSP00000384950:H115Q	ENSP00000260637:H115Q	H	-	3	2	SULT6B1	37260175	0.998000	0.40836	1.000000	0.80357	0.796000	0.44982	0.238000	0.18004	0.176000	0.19873	-0.254000	0.11334	CAC		0.363	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		41	63	1	0	6.68952e-21	1	7.50532e-21	41	63					T	37406671	G	T	37406671	3	4	45	1	0	0	0	0	1	0	0	0	15381	1368	48	5	468	5	SULT6B1	2	37406671	Missense_Mutation	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08		37406671	205792702	3	834										
CAPG	822	broad.mit.edu	37	chr2	85628999	85628999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagacgccctggttctcttgCgccacaggcaccggcttcag	11	15	2	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr2:85628999C>T	ENST00000409921.1	-	3	171	c.105G>A	c.(103-105)gcG>gcA	p.A35A	CAPG_ENST00000409724.1_Silent_p.A35A|CAPG_ENST00000409670.1_Silent_p.A35A|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Silent_p.A35A			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGTTCTCTTGCGCCACAGGCA	0.597																																						ENST00000263867.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(103-105)gcG>gcA		capping protein (actin filament), gelsolin-like							95	93	93					2																	85628999		2203	4300	6503	SO:0001819	synonymous_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85628999C>T	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.105G>A	2.37:g.85628999C>T						CAPG_ENST00000409921.1_Silent_p.A35A|CAPG_ENST00000409724.1_Silent_p.A35A|CAPG_ENST00000409670.1_Silent_p.A35A	p.A35A	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN			3	354	-			35					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000409921.1	37	c.105G>A	CCDS58715.1																																																																																				0.597	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		4	129	0	0	0	1	0	4	129					T	85628999	C	T	85628999	2	4	45	1	0	0	0	0	0	0	0	1	2621	755	27	1		1	CAPG	2	85628999	Silent	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	48222328	85628999	157570374	4	835										
CMYA5	202333	broad.mit.edu	37	chr5	79031172	79031172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcgagcactccagataacaAagttgctgaacaagaagact	8	9	0	4			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr5:79031172A>G	ENST00000446378.2	+	2	6615	c.6584A>G	c.(6583-6585)aAa>aGa	p.K2195R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2195					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAGATAACAAAGTTGCTGAA	0.418																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(6583-6585)aAa>aGa		cardiomyopathy associated 5							83	82	82					5																	79031172		1874	4109	5983	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79031172A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6584A>G	5.37:g.79031172A>G	ENSP00000394770:p.Lys2195Arg						p.K2195R	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6615	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2195					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6584A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	9.346	1.064169	0.20067	.	.	ENSG00000164309	ENST00000446378	T	0.20200	2.09	6.16	2.41	0.29592	.	0.576148	0.16882	N	0.195677	T	0.16599	0.0399	L	0.42245	1.32	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.19516	-1.0303	10	0.49607	T	0.09	.	6.728	0.23367	0.6339:0.2912:0.0749:0.0	.	2195	Q8N3K9	CMYA5_HUMAN	R	2195	ENSP00000394770:K2195R	ENSP00000394770:K2195R	K	+	2	0	CMYA5	79066928	0.468000	0.25839	0.306000	0.25113	0.054000	0.15201	0.923000	0.28757	0.174000	0.19809	0.528000	0.53228	AAA		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	80	0	0	0	1	0	5	80					G	79031172	A	G	79031172	3	3	45	1	0	0	0	0	1	0	0	0	3590	14	1	4	6590	4	CMYA5	5	79031172	Missense_Mutation	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		79031172	101884088	5	836										
HNRNPH1	3187	broad.mit.edu	37	chr5	179044053	179044053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcctagcatttggctaccGtaagcaccaccgcttgctcc	7	17	0	0			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105	102	103					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	4	101	0	0	0	1	0	4	101					A	179044053	G	A	179044053	5	1	45	1	0	0	0	0	0	0	1	0	7266	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	100012881	179044053	1871207	6	837										
C7orf16	10842	broad.mit.edu	37	chr7	31736577	31736577	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgttcccctaaccatgcAggtgtgttttcagaacattt	8	10	1	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr7:31736577A>T	ENST00000342032.3	+	4	863		c.e4-1		PPP1R17_ENST00000409146.3_Splice_Site|PPP1R17_ENST00000498609.1_Splice_Site	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17						central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										CTAACCATGCAGGTGTGTTTT	0.373																																						ENST00000342032.3																			0											c.e4-1		protein phosphatase 1, regulatory subunit 17							83	82	82					7																	31736577		2203	4300	6503	SO:0001630	splice_region_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736577A>T	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.236-1A>T	7.37:g.31736577A>T						PPP1R17_ENST00000498609.1_Splice_Site|PPP1R17_ENST00000409146.3_Splice_Site		NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			4	863	+								B4DE58|Q9UDQ0	Splice_Site	SNP	ENST00000342032.3	37		CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.308453	0.60305	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7971	0.78420	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf16	31703102	1.000000	0.71417	0.991000	0.47740	0.766000	0.43426	6.036000	0.70948	2.261000	0.74972	0.460000	0.39030	.		0.373	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	Intron	21	35	0	0	0	1	0	21	35					T	31736577	A	T	31736577	5	4	45	1	0	0	0	0	0	0	1	0	2378	202	7	5	244	5	C7orf16	7	31736577	Splice_Site	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		31736577	127402086	7	838										
OR2A2	442361	broad.mit.edu	37	chr7	143807200	143807200	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggccccgggatgtgaaccaCctcttctgtgaaattctgtc	11	12	3	2			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr7:143807200C>A	ENST00000408979.2	+	1	594	c.525C>A	c.(523-525)caC>caA	p.H175Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTGAACCACCTCTTCTGTG	0.522																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(523-525)caC>caA		olfactory receptor, family 2, subfamily A, member 2							108	108	108					7																	143807200		1974	4162	6136	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807200C>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.525C>A	7.37:g.143807200C>A	ENSP00000386209:p.His175Gln						p.H175Q	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	594	+	Melanoma(164;0.0783)		175					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.525C>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474182	0.43942	.	.	ENSG00000221989	ENST00000408979	T	0.00137	8.68	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35378	U	0.003259	T	0.00300	0.0009	M	0.73962	2.25	0.21782	N	0.999545	B	0.30068	0.267	P	0.45712	0.491	T	0.06534	-1.0821	10	0.72032	D	0.01	-12.5259	6.5506	0.22431	0.0:0.8635:0.0:0.1365	.	175	Q6IF42	OR2A2_HUMAN	Q	175	ENSP00000386209:H175Q	ENSP00000386209:H175Q	H	+	3	2	OR2A2	143438133	0.000000	0.05858	0.997000	0.53966	0.725000	0.41563	-0.339000	0.07832	1.852000	0.53769	0.511000	0.50034	CAC		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			29	105	1	0	9.39395e-14	1	1.02886e-13	29	105					A	143807200	C	A	143807200	3	1	45	1	0	0	0	0	1	0	0	0	10977	506	18	5	527	5	OR2A2	7	143807200	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	112070623	143807200	15331463	8	839										
CREB3	57704	broad.mit.edu	37	chr9	35736088	35736089	+	IGR	DEL	GA	GA	-													0	0	1	0	0	0	1	1	0	aactccaggccatggtgattGagatatcaaacaaaaccagc							TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr9:35736088_35736089delGA	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Frame_Shift_Del_p.E219fs	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATGGTGATTGAGATATCAAAC	0.52											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000353704.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(655-657)gfs		cAMP responsive element binding protein 3																																				SO:0001628	intergenic_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35736088_35736089delGA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736090_35736091delGA			OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	857	CREB3_ENST00000486056.1_3'UTR	p.E219fs	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	7	1093_1094	+	all_epithelial(49;0.167)		243			Leucine-zipper.		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	c.655_656delGA	CCDS6589.1																																																																																				0.52	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		66	84						66	84	---	---	---	---	-	35736089	GA	-	35736088	6	5	45	0	1	1	0	1	0	0	0	0	3855	1291	45	0		0	CREB3	9	35736088	IGR	DEL	GA	TCGA-QR-A70O-01A-11D-A35D-08		35736088	105477343	9	840										
SLC27A4	10999	broad.mit.edu	37	chr9	131118065	131118065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcgcctcctgcctgagctGcacaaaacaggtgtgtccct	10	15	0	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr9:131118065G>A	ENST00000300456.4	+	12	1881	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	SLC27A4_ENST00000372870.1_Silent_p.L182L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	588					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCCTGAGCTGCACAAAACAG	0.612																																					Pancreas(107;1554 2241 10946 12953)	ENST00000300456.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(1762-1764)ctG>ctA		solute carrier family 27 (fatty acid transporter), member 4							85	73	77					9																	131118065		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131118065G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1764G>A	9.37:g.131118065G>A						SLC27A4_ENST00000372870.1_Silent_p.L182L	p.L588L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			12	1881	+			588					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.1764G>A	CCDS6899.1																																																																																				0.612	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			4	93	0	0	0	1	0	4	93					A	131118065	G	A	131118065	2	1	45	1	0	0	0	0	0	0	0	1	14528	1306	46	3		3	SLC27A4	9	131118065	Silent	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	95381977	131118065	10095366	10	841										
ITPR2	3709	broad.mit.edu	37	chr12	26628350	26628350	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggcattcttcatcacatccAcctatccaaaaaaaaaaaga	3	11	3	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:26628350A>C	ENST00000381340.3	-	45	6637	c.6221T>G	c.(6220-6222)gTg>gGg	p.V2074G		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2074					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATCACATCCACCTATCCAAA	0.358																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.e45-1		inositol 1,4,5-trisphosphate receptor, type 2							78	77	78					12																	26628350		1914	4136	6050	SO:0001630	splice_region_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26628350A>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6220-1T>G	12.37:g.26628350A>C							p.V2074_splice	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			45	6637	-	Colorectal(261;0.0847)		2074					O94773	Splice_Site	SNP	ENST00000381340.3	37	c.6219_splice	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471765	0.63737	.	.	ENSG00000123104	ENST00000381340	D	0.94417	-3.42	4.98	3.82	0.43975	.	0.061993	0.64402	N	0.000005	D	0.97005	0.9022	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96538	0.9398	10	0.52906	T	0.07	.	12.0592	0.53552	0.8558:0.1442:0.0:0.0	.	2074	Q14571	ITPR2_HUMAN	G	2074	ENSP00000370744:V2074G	ENSP00000370744:V2074G	V	-	2	0	ITPR2	26519617	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.071000	0.93980	0.907000	0.36646	-0.313000	0.08912	GTG		0.358	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	Missense_Mutation	6	37	0	0	0	1	0	6	37					C	26628350	A	C	26628350	5	2	45	1	0	0	0	0	0	0	1	0	7921	173	6	5	1936	5	ITPR2	12	26628350	Splice_Site	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		26628350	107223545	11	842										
TIMELESS	8914	broad.mit.edu	37	chr12	56822781	56822781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagggtctcagaaaccaggCctggccggaaggaggcagct	16	10	1	2			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:56822781C>A	ENST00000553532.1	-	11	1340	c.1190G>T	c.(1189-1191)gGc>gTc	p.G397V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.G396V					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGAAACCAGGCCTGGCCGGAA	0.537																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1186-1188)gGc>gTc		timeless circadian clock							110	98	102					12																	56822781		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822781C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1190G>T	12.37:g.56822781C>A	ENSP00000450607:p.Gly397Val					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G397V	p.G396V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			11	1341	-			397						Missense_Mutation	SNP	ENST00000553532.1	37	c.1187G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881730	0.33255	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.08102	3.13;3.13	5.47	4.58	0.56647	.	0.163844	0.53938	D	0.000052	T	0.09291	0.0229	L	0.46157	1.445	0.80722	D	1	B;B	0.24132	0.098;0.059	B;B	0.32928	0.155;0.074	T	0.14476	-1.0471	10	0.41790	T	0.15	-12.5298	6.1851	0.20493	0.0:0.6657:0.1792:0.155	.	396;397	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	V	396;397	ENSP00000229201:G396V;ENSP00000450607:G397V	ENSP00000229201:G397V	G	-	2	0	TIMELESS	55109048	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	3.079000	0.50104	1.431000	0.47355	-0.321000	0.08615	GGC		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		27	25	1	0	4.22769e-11	1	4.52265e-11	27	25					A	56822781	C	A	56822781	3	1	45	1	0	0	0	0	1	0	0	0	15901	739	26	5	2512	5	TIMELESS	12	56822781	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	30194431	56822781	77029114	12	843										
NUP107	57122	broad.mit.edu	37	chr12	69115645	69115645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ttcctgtctgtgacacctggGaagacacagtttgggcctac	11	11	1	2			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr12:69115645G>A	ENST00000229179.4	+	16	1668	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	NUP107_ENST00000378905.2_Missense_Mutation_p.E295K|NUP107_ENST00000539906.1_Missense_Mutation_p.E417K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	446					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGACACCTGGGAAGACACAGT	0.438																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1336-1338)Gaa>Aaa		nucleoporin 107kDa							100	101	101					12																	69115645		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69115645G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1336G>A	12.37:g.69115645G>A	ENSP00000229179:p.Glu446Lys					NUP107_ENST00000378905.2_Missense_Mutation_p.E295K|NUP107_ENST00000539906.1_Missense_Mutation_p.E417K	p.E446K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		16	1668	+	Breast(13;6.25e-06)		446					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1336G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232644	0.95207	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.52905	1.665	0.80722	D	1	D;P;D	0.60575	0.988;0.771;0.988	P;P;P	0.59761	0.863;0.667;0.863	T	0.71441	-0.4592	8	.	.	.	-22.667	18.7181	0.91684	0.0:0.0:1.0:0.0	.	417;295;446	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	K	446;295;417	.	.	E	+	1	0	NUP107	67401912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.230000	0.95299	2.519000	0.84933	0.455000	0.32223	GAA		0.438	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		4	81	0	0	0	1	0	4	81					A	69115645	G	A	69115645	3	1	45	1	0	0	0	0	1	0	0	0	10753	1175	41	3	1398	3	NUP107	12	69115645	Missense_Mutation	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	12292864	69115645	64736250	13	844										
KIAA0247	9766	broad.mit.edu	37	chr14	70170160	70170160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtggctacatctgccaccCccggccctgcagagaccccc	10	19	1	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr14:70170160C>T	ENST00000342745.4	+	3	483	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	57	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATCTGCCACCCCCGGCCCTGC	0.567																																						ENST00000342745.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(169-171)cCc>cTc		KIAA0247							77	78	78					14																	70170160		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70170160C>T	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.170C>T	14.37:g.70170160C>T	ENSP00000344424:p.Pro57Leu						p.P57L	NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	3	483	+			57			Sushi.			Missense_Mutation	SNP	ENST00000342745.4	37	c.170C>T	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	C	35	5.427403	0.96131	.	.	ENSG00000100647	ENST00000342745	T	0.63744	-0.06	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.81312	0.4796	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82153	-0.0598	10	0.87932	D	0	-22.1116	20.2631	0.98458	0.0:1.0:0.0:0.0	.	57	Q92537	K0247_HUMAN	L	57	ENSP00000344424:P57L	ENSP00000344424:P57L	P	+	2	0	KIAA0247	69239913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.788000	0.95919	0.655000	0.94253	CCC		0.567	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		18	66	0	0	0	1	0	18	66					T	70170160	C	T	70170160	3	4	45	1	0	0	0	0	1	0	0	0	8165	623	22	3	176	3	KIAA0247	14	70170160	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08		70170160	37179380	14	845										
CEACAM5	1048	broad.mit.edu	37	chr19	42213811	42213811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcaacaagctaccccagggCccgcatacagtggtcgagag	11	14	1	1			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:42213811C>T	ENST00000221992.6	+	2	391	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEACAM7_ENST00000599715.1_5'Flank	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	93	Ig-like 1.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACCCCAGGGCCCGCATACAG	0.458																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(277-279)Ccc>Tcc		carcinoembryonic antigen-related cell adhesion molecule 5							196	201	199					19																	42213811		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42213811C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.277C>T	19.37:g.42213811C>T	ENSP00000221992:p.Pro93Ser					CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P93S	p.P93S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	2	391	+			93			Ig-like 1.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.277C>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.55|12.55	1.972683|1.972683	0.34848|0.34848	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816;ENST00000378181	T|T;T	0.65732|0.01599	-0.17|4.74;4.74	2.56|2.56	-1.14|-1.14	0.09741|0.09741	.|Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.07503|0.07503	0.0189|0.0189	M|M	0.81497|0.81497	2.545|2.545	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.41188	.|0.33;0.741;0.741	.|P;P;D	.|0.63793	.|0.9;0.9;0.918	T|T	0.27020|0.27020	-1.0086|-1.0086	6|9	.|0.87932	.|D	.|0	.|.	2.9661|2.9661	0.05908|0.05908	0.0:0.4593:0.2387:0.302|0.0:0.4593:0.2387:0.302	.|.	.|93;93;93	.|Q8N4D0;P06731;Q53G30	.|.;CEAM5_HUMAN;.	V|S	89|93	ENSP00000381600:A89V|ENSP00000221992:P93S;ENSP00000385072:P93S	.|ENSP00000221992:P93S	A|P	+|+	2|1	0|0	CEACAM5|CEACAM5	46905651|46905651	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.360000|-0.360000	0.07622|0.07622	-0.136000|-0.136000	0.11475|0.11475	0.305000|0.305000	0.20034|0.20034	GCC|CCC		0.458	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		114	115	0	0	0	1	0	114	115					T	42213811	C	T	42213811	3	4	45	1	0	0	0	0	1	0	0	0	3195	739	26	3	283	3	CEACAM5	19	42213811	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08		42213811	16915172	15	846										
PSG11	5680	broad.mit.edu	37	chr19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttctcgtccactgtatgCcggtccatatataattattt	6	9	1	0			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247	230	236					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		5	287	0	0	0	1	0	5	287					T	43528993	C	T	43528993	3	4	45	1	0	0	0	0	1	0	0	0	12654	739	26	3	743	3	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	1315182	43528993	15599990	16	847										
PRR12	57479	broad.mit.edu	37	chr19	50102938	50102938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttggctgcccttcaccctGcaagcggcttgatgaggagc	13	13	1	2			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:50102938G>A	ENST00000418929.2	+	5	4100	c.4088G>A	c.(4087-4089)tGc>tAc	p.C1363Y		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTTCACCCTGCAAGCGGCTT	0.642																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(4087-4089)tGc>tAc		proline rich 12							31	38	36					19																	50102938		2116	4235	6351	SO:0001583	missense	57479						DNA binding	g.chr19:50102938G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4088G>A	19.37:g.50102938G>A	ENSP00000394510:p.Cys1363Tyr						p.C1363Y	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	4100	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	542					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.4088G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614359	0.28712	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.56	3.49	0.39957	.	0.283923	0.25792	N	0.028276	T	0.59662	0.2210	L	0.40543	1.245	0.47862	D	0.999536	D	0.58268	0.982	P	0.53954	0.738	T	0.63404	-0.6645	9	0.62326	D	0.03	-25.6593	13.0768	0.59091	0.0:0.0:0.8377:0.1623	.	1363	Q9ULL5-3	.	Y	1363;543;543	.	ENSP00000246798:C543Y	C	+	2	0	PRR12	54794750	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	1.614000	0.36911	1.234000	0.43709	0.563000	0.77884	TGC		0.642	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	20	0	0	0	1	0	3	20					A	50102938	G	A	50102938	3	1	45	1	0	0	0	0	1	0	0	0	12584	1319	46	3	4106	3	PRR12	19	50102938	Missense_Mutation	SNP	G	TCGA-QR-A70O-01A-11D-A35D-08	6573945	50102938	9026045	17	848										
ZNF419	79744	broad.mit.edu	37	chr19	58004913	58004913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttagtttcaactccagcCtcatgaaacatcagagaatt	6	9	3	2			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:58004913C>G	ENST00000221735.7	+	5	1174	c.988C>G	c.(988-990)Ctc>Gtc	p.L330V	ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V|ZNF419_ENST00000424930.2_Missense_Mutation_p.L331V|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAACTCCAGCCTCATGAAACA	0.408																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(991-993)Ctc>Gtc		zinc finger protein 419							71	68	69					19																	58004913		2203	4299	6502	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004913C>G	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.988C>G	19.37:g.58004913C>G	ENSP00000221735:p.Leu330Val					ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V|ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V|ZNF419_ENST00000221735.7_Missense_Mutation_p.L330V|ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V	p.L331V	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1220	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	330					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.991C>G	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465696	0.26335	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	2.36	0.0554	0.14315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64394	0.2594	M	0.85777	2.775	0.09310	N	1	D;D;D;D;D;D;D	0.71674	0.962;0.994;0.998;0.994;0.984;0.997;0.984	D;D;D;D;P;D;P	0.79108	0.963;0.989;0.992;0.989;0.722;0.987;0.722	T	0.51332	-0.8719	9	0.87932	D	0	.	3.3297	0.07080	0.2308:0.5384:0.0:0.2308	.	284;284;317;318;331;298;330	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	305;331;318;318;317;331;298;284;330	ENSP00000388864:L331V;ENSP00000390916:L318V;ENSP00000346136:L318V;ENSP00000414709:L317V;ENSP00000299860:L298V;ENSP00000392129:L284V;ENSP00000221735:L330V	ENSP00000221735:L330V	L	+	1	0	ZNF419	62696725	0.000000	0.05858	0.033000	0.17914	0.719000	0.41307	0.057000	0.14279	0.289000	0.22422	0.205000	0.17691	CTC		0.408	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		30	26	0	0	0	1	0	30	26					G	58004913	C	G	58004913	3	3	45	1	0	0	0	0	1	0	0	0	17893	681	24	5	1009	5	ZNF419	19	58004913	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	7901975	58004913	1124070	18	849										
ZNF773	374928	broad.mit.edu	37	chr19	58018415	58018415	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtttagtttcaactccagcCtcatgaaacatcagagagtt	7	9	3	2			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:58018415C>G	ENST00000282292.4	+	4	1092	c.952C>G	c.(952-954)Ctc>Gtc	p.L318V	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAACTCCAGCCTCATGAAACA	0.423																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(952-954)Ctc>Gtc		zinc finger protein 773							125	127	126					19																	58018415		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018415C>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.952C>G	19.37:g.58018415C>G	ENSP00000282292:p.Leu318Val					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V	p.L318V	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1092	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	318					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.952C>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464810	0.26335	.	.	ENSG00000152439	ENST00000282292	T	0.52983	0.64	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66992	0.2846	M	0.86953	2.85	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.992	T	0.51764	-0.8664	9	0.72032	D	0.01	.	5.4629	0.16627	0.0:0.796:0.0:0.2039	.	317;318	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	V	318	ENSP00000282292:L318V	ENSP00000282292:L318V	L	+	1	0	ZNF773	62710227	0.000000	0.05858	0.835000	0.33067	0.911000	0.54048	-0.142000	0.10311	0.945000	0.37605	0.305000	0.20034	CTC		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		15	144	0	0	0	1	0	15	144					G	58018415	C	G	58018415	3	3	45	1	0	0	0	0	1	0	0	0	18143	681	24	5	966	5	ZNF773	19	58018415	Missense_Mutation	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	13502	58018415	1110568	19	850										
ZBTB45	84878	broad.mit.edu	37	chr19	59028621	59028621	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggtgcgagtggcgggggCacaggggtgggcaggggcgt	25	7	0	0			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chr19:59028621C>G	ENST00000594051.1	-	2	900	c.420G>C	c.(418-420)gtG>gtC	p.V140V	ZBTB45_ENST00000354590.3_Silent_p.V140V|ZBTB45_ENST00000600990.1_Silent_p.V140V			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	140	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGGCGGGGGCACAGGGGTGG	0.701											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(418-420)gtG>gtC		zinc finger and BTB domain containing 45							6	8	8					19																	59028621		1874	3770	5644	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028621C>G	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.420G>C	19.37:g.59028621C>G			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Silent_p.V140V|ZBTB45_ENST00000354590.3_Silent_p.V140V	p.V140V			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	900	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	140			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.420G>C	CCDS12984.1																																																																																				0.701	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		5	13	0	0	0	1	0	5	13					G	59028621	C	G	59028621	2	3	45	1	0	0	0	0	0	0	0	1	17543	697	25	5		5	ZBTB45	19	59028621	Silent	SNP	C	TCGA-QR-A70O-01A-11D-A35D-08	1010206	59028621	100362	20	851										
FAM47C	442444	broad.mit.edu	37	chrX	37026997	37026997	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgagggccaggagaagacaActgacgaacccacggagcct	14	11	0	4			TCGA-QR-A70O-01A-11D-A35D-08	TCGA-QR-A70O-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4776a3fb-8da7-4565-9c39-9427b044c297	78f8c217-e394-49cf-bf5a-e75c85240160	g.chrX:37026997A>C	ENST00000358047.3	+	1	566	c.514A>C	c.(514-516)Act>Cct	p.T172P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	172										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGAAGACAACTGACGAACC	0.597																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(514-516)Act>Cct		family with sequence similarity 47, member C							45	41	42					X																	37026997		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026997A>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.514A>C	X.37:g.37026997A>C	ENSP00000367913:p.Thr172Pro						p.T172P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	566	+			172					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.514A>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	A	9.626	1.135243	0.21123	.	.	ENSG00000198173	ENST00000358047	T	0.19394	2.15	0.502	-1.0	0.10196	.	.	.	.	.	T	0.25269	0.0614	L	0.52266	1.64	0.09310	N	1	P	0.40180	0.705	P	0.51266	0.664	T	0.24835	-1.0149	8	0.32370	T	0.25	.	.	.	.	.	172	Q5HY64	FA47C_HUMAN	P	172	ENSP00000367913:T172P	ENSP00000367913:T172P	T	+	1	0	FAM47C	36936918	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	2.260000	0.43267	-0.619000	0.05648	0.242000	0.17961	ACT		0.597	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	30	0	0	0	1	0	5	30					C	37026997	A	C	37026997	3	2	45	1	0	0	0	0	1	0	0	0	5571	43	2	5	516	5	FAM47C	23	37026997	Missense_Mutation	SNP	A	TCGA-QR-A70O-01A-11D-A35D-08		37026997	118243563	21	852										
RSBN1	54665	broad.mit.edu	37	chr1	114354414	114354414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtgcttgagatcggttccGcaggagctgggatcaccatc	13	10	1	1	rs147797898		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:114354414G>A	ENST00000261441.5	-	1	684	c.621C>T	c.(619-621)tgC>tgT	p.C207C	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	207						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCGGTTCCGCAGGAGCTGG	0.632																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(619-621)tgC>tgT		round spermatid basic protein 1		G		0,4406		0,0,2203	97	84	88		621	3.3	1	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RSBN1	NM_018364.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		207/803	114354414	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354414G>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.621C>T	1.37:g.114354414G>A							p.C207C	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	684	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	207					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.621C>T	CCDS862.1																																																																																				0.632	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		5	20	0	0	0	1	0	5	20					A	114354414	G	A	114354414	2	1	46	1	0	0	0	0	0	0	0	1	13696	1079	38	1		1	RSBN1	1	114354414	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		114354414	134896207	1	853										
SPAG17	200162	broad.mit.edu	37	chr1	118548121	118548121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacctgccagctcgcagctgCtcacgcttttgaaaaggata	9	12	1	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:118548121C>T	ENST00000336338.5	-	32	4757	c.4692G>A	c.(4690-4692)gaG>gaA	p.E1564E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1564						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1564D(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCGCAGCTGCTCACGCTTTT	0.443																																						ENST00000336338.5																			1	Substitution - Missense(1)	p.E1564D(1)	lung(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4690-4692)gaG>gaA		sperm associated antigen 17							130	126	128					1																	118548121		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548121C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4692G>A	1.37:g.118548121C>T							p.E1564E	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4757	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1564					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.4692G>A	CCDS899.1																																																																																				0.443	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		27	12	0	0	0	1	0	27	12					T	118548121	C	T	118548121	2	4	46	1	0	0	0	0	0	0	0	1	14979	796	28	3		3	SPAG17	1	118548121	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	4193707	118548121	130702500	2	854										
FAM71A	149647	broad.mit.edu	37	chr1	212798288	212798288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatgagcatgttcaacacCaccatggggaaactgcagcg	11	11	1	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:212798288C>T	ENST00000294829.3	+	1	500	c.69C>T	c.(67-69)acC>acT	p.T23T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	23						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTTCAACACCACCATGGGGA	0.488																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(67-69)acC>acT		family with sequence similarity 71, member A							109	98	101					1																	212798288		2203	4300	6503	SO:0001819	synonymous_variant	149647							g.chr1:212798288C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.69C>T	1.37:g.212798288C>T						RP11-338C15.5_ENST00000427949.1_RNA	p.T23T	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	500	+			23					Q5VTZ1	Silent	SNP	ENST00000294829.3	37	c.69C>T	CCDS1507.1																																																																																				0.488	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		14	37	0	0	0	1	0	14	37					T	212798288	C	T	212798288	2	4	46	1	0	0	0	0	0	0	0	1	5607	581	21	3		3	FAM71A	1	212798288	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	94250167	212798288	36452333	3	855										
MTR	4548	broad.mit.edu	37	chr1	237054510	237054510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcaaaagaaactccgggccCggggtgtggttgggttctgg	17	8	2	1	rs139771804		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:237054510C>T	ENST00000366577.5	+	29	3479	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	MTR_ENST00000535889.1_Missense_Mutation_p.R978W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1029	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTCCGGGCCCGGGGTGTGGT	0.522																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3085-3087)Cgg>Tgg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	C	TRP/ARG	0,4406		0,0,2203	101	108	106		3085	-1.9	1	1	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTR	NM_000254.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1029/1266	237054510	1,13005	2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237054510C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3085C>T	1.37:g.237054510C>T	ENSP00000355536:p.Arg1029Trp					MTR_ENST00000535889.1_Missense_Mutation_p.R978W	p.R1029W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	29	3479	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1029			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3085C>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858805	0.71834	0.0	1.16E-4	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.79653	-1.29;-1.29;-1.29	5.48	-1.91	0.07641	Vitamin B12-dependent methionine synthase, activation domain (3);	0.165190	0.49916	D	0.000131	D	0.87830	0.6276	M	0.87758	2.905	0.37278	D	0.907722	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.58577	0.841;0.841;0.841	D	0.89966	0.4090	10	0.87932	D	0	-10.6896	16.3981	0.83630	0.4283:0.5717:0.0:0.0	.	1029;978;1029	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	W	883;1029;978;583	ENSP00000355536:R1029W;ENSP00000441845:R978W;ENSP00000355535:R583W	ENSP00000355535:R583W	R	+	1	2	MTR	235121133	1.000000	0.71417	0.962000	0.40283	0.688000	0.40055	1.640000	0.37186	-0.604000	0.05760	-1.383000	0.01170	CGG		0.522	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		20	73	0	0	0	1	0	20	73					T	237054510	C	T	237054510	3	4	46	1	0	0	0	0	1	0	0	0	9958	643	23	2	3199	2	MTR	1	237054510	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	24256222	237054510	12196111	4	856										
SUPT7L	9913	broad.mit.edu	37	chr2	27876404	27876404	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttgaaaacaggggaggacCccatgaggctgtcagtggag	17	7	1	2			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:27876404C>G	ENST00000337768.5	-	6	1762	c.1193G>C	c.(1192-1194)gGg>gCg	p.G398A	SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A|SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	398					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGGGGAGGACCCCATGAGGCT	0.498																																						ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(1192-1194)gGg>gCg		suppressor of Ty 7 (S. cerevisiae)-like							103	106	105					2																	27876404		1908	4137	6045	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27876404C>G	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1193G>C	2.37:g.27876404C>G	ENSP00000336750:p.Gly398Ala					SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A|SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A	p.G398A	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN			6	1762	-	Acute lymphoblastic leukemia(172;0.155)		398					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.1193G>C	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724138	0.89298	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	L	0.29908	0.895	0.80722	D	1	P;P;P	0.41393	0.633;0.748;0.633	B;B;B	0.42555	0.219;0.391;0.219	T	0.57464	-0.7807	9	0.87932	D	0	-29.8978	20.8794	0.99867	0.0:1.0:0.0:0.0	.	263;396;398	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	A	398;396;396;396;263	.	ENSP00000336750:G398A	G	-	2	0	SUPT7L	27729908	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.644000	0.67902	2.941000	0.99782	0.655000	0.94253	GGG		0.498	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		19	28	0	0	0	1	0	19	28					G	27876404	C	G	27876404	3	3	46	1	0	0	0	0	1	0	0	0	15398	623	22	5	55	5	SUPT7L	2	27876404	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		27876404	215322969	5	857										
FAM179A	165186	broad.mit.edu	37	chr2	29225514	29225514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgatgcctctcatccagagCatccctaccacccctgaggc	7	19	1	2			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:29225514C>T	ENST00000379558.4	+	5	891	c.540C>T	c.(538-540)agC>agT	p.S180S	FAM179A_ENST00000403861.2_Silent_p.S180S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	180										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCAGAGCATCCCTACCA	0.662																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(538-540)agC>agT		family with sequence similarity 179, member A							30	37	35					2																	29225514		1996	4164	6160	SO:0001819	synonymous_variant	165186						binding	g.chr2:29225514C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.540C>T	2.37:g.29225514C>T						FAM179A_ENST00000403861.2_Silent_p.S180S	p.S180S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			5	891	+			180					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.540C>T	CCDS1769.2																																																																																				0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		5	9	0	0	0	1	0	5	9					T	29225514	C	T	29225514	2	4	46	1	0	0	0	0	0	0	0	1	5505	709	25	3		3	FAM179A	2	29225514	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	1349110	29225514	213973859	6	858										
VIT	5212	broad.mit.edu	37	chr2	36982171	36982171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ccaatcgttatccctaccacGatggagagaatcctttatcg	7	12	0	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:36982171G>A	ENST00000389975.3	+	5	685	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	VIT_ENST00000457137.2_Missense_Mutation_p.R128Q|VIT_ENST00000401530.1_Missense_Mutation_p.R128Q|VIT_ENST00000404084.1_Missense_Mutation_p.R106Q|VIT_ENST00000497382.1_De_novo_Start_OutOfFrame|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	128	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCCTACCACGATGGAGAGAA	0.443																																						ENST00000497382.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57								vitrin							141	121	128					2																	36982171		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982171G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.383G>A	2.37:g.36982171G>A	ENSP00000374625:p.Arg128Gln					VIT_ENST00000457137.2_Missense_Mutation_p.R128Q|VIT_ENST00000404084.1_Missense_Mutation_p.R106Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000389975.3_Missense_Mutation_p.R128Q|VIT_ENST00000401530.1_Missense_Mutation_p.R128Q				Q6UXI7	VITRN_HUMAN			0	570	+		all_hematologic(82;0.248)						A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Translation_Start_Site	SNP	ENST00000389975.3	37		CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223858	0.79576	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.63	5.63	0.86233	LCCL (4);	0.205105	0.42548	D	0.000692	D	0.90700	0.7082	N	0.20881	0.62	0.40950	D	0.984533	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D	0.69142	0.939;0.962;0.937;0.932;0.937;0.953	D	0.91892	0.5524	10	0.59425	D	0.04	-11.4084	19.3046	0.94155	0.0:0.0:1.0:0.0	.	128;128;128;128;128;128	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	Q	128;128;128;128;106;128;128	ENSP00000368544:R128Q;ENSP00000374625:R128Q;ENSP00000393561:R128Q;ENSP00000384154:R106Q;ENSP00000368543:R128Q;ENSP00000385658:R128Q	ENSP00000368543:R128Q	R	+	2	0	VIT	36835675	0.998000	0.40836	0.922000	0.36590	0.368000	0.29767	4.666000	0.61554	2.652000	0.90054	0.655000	0.94253	CGA		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				3	42	0	0	0	1	0	3	42					A	36982171	G	A	36982171	3	1	46	1	0	0	0	0	1	0	0	0	17168	1058	37	2	397	2	VIT	2	36982171	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	7756657	36982171	206217202	7	859										
COL6A3	1293	broad.mit.edu	37	chr2	238283663	238283663	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacgtccttttcacctgaaActgggaggaggacagcctgg	12	12	1	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:238283663A>T	ENST00000295550.4	-	8	3523	c.3071T>A	c.(3070-3072)gTt>gAt	p.V1024D	COL6A3_ENST00000353578.4_Splice_Site_p.V818D|COL6A3_ENST00000392004.3_Splice_Site_p.V818D|COL6A3_ENST00000346358.4_Splice_Site_p.V824D|COL6A3_ENST00000347401.3_Splice_Site_p.V823D|COL6A3_ENST00000409809.1_Splice_Site_p.V818D|COL6A3_ENST00000472056.1_Splice_Site_p.V417D|COL6A3_ENST00000392003.2_Splice_Site_p.V617D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1024	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCACCTGAAACTGGGAGGAG	0.522																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.e8-1		collagen, type VI, alpha 3							42	45	44					2																	238283663		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283663A>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3071-1T>A	2.37:g.238283663A>T						COL6A3_ENST00000472056.1_Splice_Site_p.V417_splice|COL6A3_ENST00000392004.3_Splice_Site_p.V818_splice|COL6A3_ENST00000347401.3_Splice_Site_p.V823_splice|COL6A3_ENST00000409809.1_Splice_Site_p.V818_splice|COL6A3_ENST00000392003.2_Splice_Site_p.V617_splice|COL6A3_ENST00000346358.4_Splice_Site_p.V824_splice|COL6A3_ENST00000353578.4_Splice_Site_p.V818_splice	p.V1024_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3523	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1024			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	c.3070_splice	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	5.725	0.318153	0.10845	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;T;T	0.89746	-2.56;-2.53;-2.52;-2.48;-2.52;-2.49;0.02;-0.09	5.33	2.81	0.32909	.	0.413650	0.20012	N	0.101082	T	0.69726	0.3143	N	0.04508	-0.205	0.58432	D	0.999999	B;B;B;B;B	0.16396	0.004;0.0;0.0;0.017;0.003	B;B;B;B;B	0.25614	0.008;0.001;0.003;0.062;0.004	T	0.56739	-0.7929	10	0.11794	T	0.64	.	1.9858	0.03436	0.5844:0.1665:0.0889:0.1602	.	417;617;818;818;1024	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	D	1024;823;818;417;818;824;818;617	ENSP00000295550:V1024D;ENSP00000315609:V823D;ENSP00000315873:V818D;ENSP00000418285:V417D;ENSP00000386844:V818D;ENSP00000295546:V824D;ENSP00000375861:V818D;ENSP00000375860:V617D	ENSP00000295550:V1024D	V	-	2	0	COL6A3	237948402	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	0.964000	0.29306	0.981000	0.38548	0.533000	0.62120	GTT		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Missense_Mutation	5	11	0	0	0	1	0	5	11					T	238283663	A	T	238283663	5	4	46	1	0	0	0	0	0	0	1	0	3701	57	2	5	6657	5	COL6A3	2	238283663	Splice_Site	SNP	A	TCGA-QR-A70P-01A-11D-A35D-08	201301492	238283663	4915710	8	860										
RNPEPL1	57140	broad.mit.edu	37	chr2	241513564	241513564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgccaccctccttccccAtcgtggccatggagaacccc	7	20	0	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:241513564A>G	ENST00000270357.4	+	5	873	c.280A>G	c.(280-282)Atc>Gtc	p.I94V		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	94					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CTCCTTCCCCATCGTGGCCAT	0.627																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(280-282)Atc>Gtc		arginyl aminopeptidase (aminopeptidase B)-like 1							130	94	107					2																	241513564		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513564A>G			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.280A>G	2.37:g.241513564A>G	ENSP00000270357:p.Ile94Val						p.I94V	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	5	873	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	94					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.280A>G		.	.	.	.	.	.	.	.	.	.	a	16.56	3.158742	0.57368	.	.	ENSG00000142327	ENST00000270357	T	0.02498	4.27	5.08	3.88	0.44766	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.054715	0.64402	D	0.000001	T	0.03608	0.0103	N	0.19112	0.55	0.43360	D	0.995439	B	0.26318	0.146	B	0.39935	0.314	T	0.51132	-0.8744	10	0.72032	D	0.01	-8.666	9.1551	0.36988	0.8364:0.0:0.0:0.1636	.	94	Q9HAU8	RNPL1_HUMAN	V	94	ENSP00000270357:I94V	ENSP00000270357:I94V	I	+	1	0	RNPEPL1	241162237	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.740000	0.74832	0.716000	0.32124	0.398000	0.26397	ATC		0.627	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		10	21	0	0	0	1	0	10	21					G	241513564	A	G	241513564	3	3	46	1	0	0	0	0	1	0	0	0	13510	217	8	4	290	4	RNPEPL1	2	241513564	Missense_Mutation	SNP	A	TCGA-QR-A70P-01A-11D-A35D-08	3229901	241513564	1685809	9	861										
KIF1A	547	broad.mit.edu	37	chr2	241702149	241702151	+	In_Frame_Del	DEL	CTC	CTC	-													0	0	1	0	0	0	1	1	0	ccctcaccttcatcctcgggCtcctcctcctcctcgttcac							TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:241702149_241702151delCTC	ENST00000320389.7	-	22	2232_2234	c.2074_2076delGAG	c.(2074-2076)gagdel	p.E692del	KIF1A_ENST00000498729.2_In_Frame_Del_p.E701del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	692					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATCCTCGGGCTCCTCCTCCTCC	0.621																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2101-2103)del		kinesin family member 1A																																				SO:0001651	inframe_deletion	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702149_241702151delCTC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2074_2076delGAG	2.37:g.241702158_241702160delCTC	ENSP00000322791:p.Glu692del					KIF1A_ENST00000320389.7_In_Frame_Del_p.E692del	p.E701del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	23	2347_2349	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	692					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2101_2103delGAG	CCDS46561.1																																																																																				0.621	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	6						3	6	---	---	---	---	-	241702151	CTC	-	241702149	7	5	46	1	0	1	0	1	0	0	0	0	8283	796	28	0	3100	0	KIF1A	2	241702149	In_Frame_Del	DEL	CTC	TCGA-QR-A70P-01A-11D-A35D-08	188585	241702149	1497224	10	862										
KIF15	56992	broad.mit.edu	37	chr3	44847335	44847335	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgttttacaatatctattAggaaaaggcagctagaattg	8	6	1	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr3:44847335A>G	ENST00000326047.4	+	16	1978		c.e16-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATATCTATTAGGAAAAGGCA	0.343																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e16-1		kinesin family member 15							103	122	116					3																	44847335		2202	4300	6502	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44847335A>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1830-1A>G	3.37:g.44847335A>G						KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	16	1978	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875290	0.72180	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5304	0.75956	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44822339	1.000000	0.71417	0.974000	0.42286	0.834000	0.47266	8.665000	0.91144	2.133000	0.65898	0.533000	0.62120	.		0.343	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	9	69	0	0	0	1	0	9	69					G	44847335	A	G	44847335	5	3	46	1	0	0	0	0	0	0	1	0	8277	434	15	4	1890	4	KIF15	3	44847335	Splice_Site	SNP	A	TCGA-QR-A70P-01A-11D-A35D-08		44847335	153175095	11	863										
CDKL3	51265	broad.mit.edu	37	chr5	133648028	133648028	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatactcatgatgcaaaagaTcactagatgatatcctgtca	6	8	3	4			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr5:133648028T>C	ENST00000265334.4	-	7	954	c.836A>G	c.(835-837)gAt>gGt	p.D279G	CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000609654.1_Missense_Mutation_p.D90G|CDKL3_ENST00000521118.1_Missense_Mutation_p.D279G|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000536186.1_5'UTR	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAAAAGATCACTAGATGA	0.328																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(835-837)gAt>gGt		cyclin-dependent kinase-like 3							52	48	49					5																	133648028		1810	4072	5882	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133648028T>C	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.836A>G	5.37:g.133648028T>C	ENSP00000265334:p.Asp279Gly					CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000265334.4_Missense_Mutation_p.D279G	p.D279G			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	950	-			279			Protein kinase.		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.836A>G	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545375	0.65198	.	.	ENSG00000006837	ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T	0.47177	0.85;2.45;0.85;0.85;0.85	5.65	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.308092	0.27996	N	0.017007	T	0.46112	0.1376	L	0.53780	1.695	0.37618	D	0.921199	P;B;P	0.47545	0.897;0.427;0.565	P;B;B	0.44946	0.465;0.142;0.393	T	0.56408	-0.7984	10	0.59425	D	0.04	-26.3078	10.2692	0.43473	0.0:0.0:0.1657:0.8343	.	90;90;279	B4DX41;B7Z2C5;Q8IVW4	.;.;CDKL3_HUMAN	G	279;90;279;279;279	ENSP00000265334:D279G;ENSP00000428500:D90G;ENSP00000428689:D279G;ENSP00000430496:D279G;ENSP00000395559:D279G	ENSP00000265334:D279G	D	-	2	0	CDKL3	133675927	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.227000	0.51262	2.149000	0.67028	0.482000	0.46254	GAT		0.328	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		3	10	0	0	0	1	0	3	10					C	133648028	T	C	133648028	3	2	46	1	0	0	0	0	1	0	0	0	3155	1435	50	4	974	4	CDKL3	5	133648028	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		133648028	47267232	12	864										
HOXA1	3198	broad.mit.edu	37	chr7	27135188	27135188	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccacttacgtctgcttccTgatttaacgcgtaggggctg	10	12	1	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr7:27135188T>A	ENST00000343060.4	-	1	405	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	115					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCTGCTTCCTGATTTAACGC	0.562																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(343-345)cAg>cTg		homeobox A1							80	84	82					7																	27135188		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135188T>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.344A>T	7.37:g.27135188T>A	ENSP00000343246:p.Gln115Leu					HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L	p.Q115L	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	405	-			115					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.344A>T	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921068	0.52653	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.33865	1.39;1.39	5.28	5.28	0.74379	.	0.325797	0.33753	N	0.004593	T	0.44030	0.1274	L	0.60455	1.87	0.54753	D	0.999982	P;D	0.56035	0.608;0.974	B;P	0.51415	0.08;0.669	T	0.37865	-0.9687	10	0.46703	T	0.11	.	10.7917	0.46436	0.0:0.0:0.1588:0.8412	.	115;115	P49639;E7ERT8	HXA1_HUMAN;.	L	115	ENSP00000343246:Q115L;ENSP00000347851:Q115L	ENSP00000343246:Q115L	Q	-	2	0	HOXA1	27101713	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.666000	0.68059	2.005000	0.58758	0.260000	0.18958	CAG		0.562	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			3	66	0	0	0	1	0	3	66					A	27135188	T	A	27135188	3	1	46	1	0	0	0	0	1	0	0	0	7288	1580	55	5	671	5	HOXA1	7	27135188	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		27135188	132003475	13	865										
TRHR	7201	broad.mit.edu	37	chr8	110100449	110100449	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactctaagacatggaaaaaTgattcaacccatcagaacac	5	10	3	3			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr8:110100449T>C	ENST00000518632.1	+	2	1059	c.708T>C	c.(706-708)aaT>aaC	p.N236N	TRHR_ENST00000311762.2_Silent_p.N236N			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	236					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CATGGAAAAATGATTCAACCC	0.373																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(706-708)aaT>aaC		thyrotropin-releasing hormone receptor							56	55	56					8																	110100449		2201	4300	6501	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100449T>C		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.708T>C	8.37:g.110100449T>C						TRHR_ENST00000311762.2_Silent_p.N236N	p.N236N			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	1059	+			236					Q2M339	Silent	SNP	ENST00000518632.1	37	c.708T>C	CCDS6311.1																																																																																				0.373	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			13	20	0	0	0	1	0	13	20					C	110100449	T	C	110100449	2	2	46	1	0	0	0	0	0	0	0	1	16477	1461	51	4		4	TRHR	8	110100449	Silent	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		110100449	36263573	14	866										
SLC44A1	23446	broad.mit.edu	37	chr9	108128699	108128699	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcttgaaaagtgcctaaatTatttaaatcaggtaaaatat	6	4	2	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr9:108128699T>A	ENST00000374720.3	+	12	1730	c.1483T>A	c.(1483-1485)Tat>Aat	p.Y495N	SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	495					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTGCCTAAATTATTTAAATCA	0.299																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1483-1485)Tat>Aat		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						46	46	46					9																	108128699		2203	4298	6501	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108128699T>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1483T>A	9.37:g.108128699T>A	ENSP00000363852:p.Tyr495Asn					SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N	p.Y495N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			12	1730	+			495					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1483T>A	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621855	0.87460	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.992;0.992;1.0	D;D;D	0.97110	0.948;0.948;1.0	T	0.63629	-0.6594	10	0.72032	D	0.01	-15.8992	16.0048	0.80354	0.0:0.0:0.0:1.0	.	495;495;495	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	N	495;495;495;287	ENSP00000363855:Y495N;ENSP00000363852:Y495N;ENSP00000363856:Y495N;ENSP00000341856:Y287N	ENSP00000341856:Y287N	Y	+	1	0	SLC44A1	107168520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.237000	0.73441	0.528000	0.53228	TAT		0.299	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		18	16	0	0	0	1	0	18	16					A	108128699	T	A	108128699	3	1	46	1	0	0	0	0	1	0	0	0	14635	1754	61	5	1529	5	SLC44A1	9	108128699	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		108128699	33084732	15	867										
PHRF1	57661	broad.mit.edu	37	chr11	605191	605191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgttcacagcagctgcatcCcgtcagtgttgaagccagtg	11	12	2	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr11:605191C>T	ENST00000264555.5	+	11	1353	c.1225C>T	c.(1225-1227)Ccg>Tcg	p.P409S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P409S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	409					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGCTGCATCCCGTCAGTGTT	0.557																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1225-1227)Ccg>Tcg		PHD and ring finger domains 1							51	56	54					11																	605191		2069	4209	6278	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:605191C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1225C>T	11.37:g.605191C>T	ENSP00000264555:p.Pro409Ser					PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P409S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S	p.P409S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			11	1353	+			409					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1225C>T		.	.	.	.	.	.	.	.	.	.	C	16.00	2.997192	0.54147	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.83591	-1.72;-1.74;-1.71;-1.71	4.65	4.65	0.58169	.	0.000000	0.37955	N	0.001880	D	0.89591	0.6759	M	0.70275	2.135	0.47407	D	0.999413	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.77557	0.978;0.99;0.99;0.978	D	0.90443	0.4433	10	0.72032	D	0.01	-15.3045	13.4536	0.61184	0.0:0.8428:0.1571:0.0	.	405;408;409;409	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	409;408;409;405	ENSP00000264555:P409S;ENSP00000388589:P408S;ENSP00000410626:P409S;ENSP00000431870:P405S	ENSP00000264555:P409S	P	+	1	0	PHRF1	595191	1.000000	0.71417	0.374000	0.26016	0.005000	0.04900	7.014000	0.76380	2.398000	0.81561	0.563000	0.77884	CCG		0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		21	25	0	0	0	1	0	21	25					T	605191	C	T	605191	3	4	46	1	0	0	0	0	1	0	0	0	11861	623	22	3	1263	3	PHRF1	11	605191	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		605191	134401325	16	868										
CKAP5	9793	broad.mit.edu	37	chr11	46791574	46791574	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtttagaagttgctttagtGggtggagcaggcttggctgg	18	4	0	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr11:46791574G>A	ENST00000529230.1	-	26	3307	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	CKAP5_ENST00000354558.3_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P|CKAP5_ENST00000312055.5_Silent_p.P1087P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1087					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGCTTTAGTGGGTGGAGCAG	0.448																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3259-3261)ccC>ccT		cytoskeleton associated protein 5							181	168	172					11																	46791574		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46791574G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3261C>T	11.37:g.46791574G>A						CKAP5_ENST00000312055.5_Silent_p.P1087P|CKAP5_ENST00000354558.3_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P	p.P1087P			Q14008	CKAP5_HUMAN			26	3307	-			1087					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.3261C>T	CCDS31477.1																																																																																				0.448	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		30	44	0	0	0	1	0	30	44					A	46791574	G	A	46791574	2	1	46	1	0	0	0	0	0	0	0	1	3445	1335	47	3		3	CKAP5	11	46791574	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	46186383	46791574	88214942	17	869										
NCKAP1L	3071	broad.mit.edu	37	chr12	54917726	54917726	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacctcagcagccacctggaGgccagactcaacaggtatca	9	14	3	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:54917726G>C	ENST00000293373.6	+	20	2221	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	714					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCACCTGGAGGCCAGACTCA	0.443																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2140-2142)gaG>gaC		NCK-associated protein 1-like							130	118	122					12																	54917726		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917726G>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2142G>C	12.37:g.54917726G>C	ENSP00000293373:p.Glu714Asp					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D	p.E714D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			20	2221	+			714					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2142G>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730269	0.69074	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35048	1.33;1.33	5.16	-0.00244	0.14030	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.81497	2.545	0.45995	D	0.998802	D	0.69078	0.997	D	0.79108	0.992	T	0.52668	-0.8545	10	0.41790	T	0.15	-19.6491	9.6496	0.39888	0.4141:0.0:0.5859:0.0	.	714	P55160	NCKPL_HUMAN	D	714;664	ENSP00000293373:E714D;ENSP00000445596:E664D	ENSP00000293373:E714D	E	+	3	2	NCKAP1L	53203993	0.999000	0.42202	0.995000	0.50966	0.950000	0.60333	1.197000	0.32211	0.019000	0.15079	-0.123000	0.14984	GAG		0.443	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		18	34	0	0	0	1	0	18	34					C	54917726	G	C	54917726	3	2	46	1	0	0	0	0	1	0	0	0	10222	991	35	5	2220	5	NCKAP1L	12	54917726	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		54917726	78934169	18	870										
RNF10	9921	broad.mit.edu	37	chr12	121002881	121002881	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tttttccaatgtaggatgttCgacagcgtcacagatatctc	8	9	2	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:121002881C>T	ENST00000325954.4	+	11	2133	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	558					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGGATGTTCGACAGCGTCA	0.453																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1672-1674)Cga>Tga		ring finger protein 10							209	195	200					12																	121002881		2203	4300	6503	SO:0001587	stop_gained	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121002881C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1672C>T	12.37:g.121002881C>T	ENSP00000322242:p.Arg558*					RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563*	p.R558*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			11	2133	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		558					Q92550|Q9NPP8|Q9ULW4	Nonsense_Mutation	SNP	ENST00000325954.4	37	c.1672C>T	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	37	6.487559	0.97607	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	.	.	.	5.71	4.82	0.62117	.	0.197037	0.44688	D	0.000425	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.328	0.55022	0.1408:0.7381:0.1211:0.0	.	.	.	.	X	558;558;563;6;102	.	ENSP00000322242:R558X	R	+	1	2	RNF10	119487264	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	6.003000	0.70701	1.410000	0.46936	-0.176000	0.13171	CGA		0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			42	67	0	0	0	1	0	42	67					T	121002881	C	T	121002881	4	4	46	1	0	0	0	0	0	1	0	0	13422	876	31	2	1714	2	RNF10	12	121002881	Nonsense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	66085155	121002881	12849014	19	871										
SIX4	51804	broad.mit.edu	37	chr14	61190752	61190752	+	Missense_Mutation	SNP	G	G	T													0	0	1	0	0	0	1	1	0	cattctcttgcttgatgtccGccgcacttgcgatctgcccg							TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:61190752G>T	ENST00000216513.4	-	1	100	c.41C>A	c.(40-42)gCg>gAg	p.A14E		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	14					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTTGATGTCCGCCGCACTTGC	0.607																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(40-42)gCg>gAg		SIX homeobox 4							79	87	85					14																	61190752		2175	4277	6452	SO:0001583	missense	51804					nucleus		g.chr14:61190752G>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.41C>A	14.37:g.61190752G>T	ENSP00000216513:p.Ala14Glu						p.A14E	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	100	-			14					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.41C>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812838	0.50527	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92752	-3.1	3.16	1.2	0.21068	.	3.165320	0.01869	U	0.037105	T	0.81992	0.4940	N	0.08118	0	0.24214	N	0.995466	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71331	-0.4625	10	0.31617	T	0.26	.	2.4893	0.04606	0.2433:0.0:0.2578:0.4989	.	6;14	G3V2N2;Q9UIU6	.;SIX4_HUMAN	E	14;6	ENSP00000216513:A14E	ENSP00000216513:A14E	A	-	2	0	SIX4	60260505	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.866000	0.39489	0.625000	0.30304	0.290000	0.19541	GCG		0.607	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			23	42	1	0	4.59853e-10	1	4.70802e-10	23	42					T	61190752	G	T	61190752	3	4	46	1	0	0	0	0	1	0	0	0	14349	1087	38	5	2316	5	SIX4	14	61190752	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		61190752	46158788	20	872	7	2								
SIX4	51804	broad.mit.edu	37	chr14	61190753	61190753	+	Missense_Mutation	SNP	C	C	T													0	0	1	0	0	0	1	1	0	attctcttgcttgatgtccgCcgcacttgcgatctgcccgg							TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:61190753C>T	ENST00000216513.4	-	1	99	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	14					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTGATGTCCGCCGCACTTGCG	0.607																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(40-42)Gcg>Acg		SIX homeobox 4							79	87	85					14																	61190753		2175	4278	6453	SO:0001583	missense	51804					nucleus		g.chr14:61190753C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.40G>A	14.37:g.61190753C>T	ENSP00000216513:p.Ala14Thr						p.A14T	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	99	-			14					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.40G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	c	15.79	2.937628	0.52972	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92595	-3.07	3.16	2.26	0.28386	.	3.165320	0.01869	U	0.037105	D	0.83454	0.5258	N	0.08118	0	0.23249	N	0.998049	B;B	0.19817	0.039;0.039	B;B	0.14023	0.01;0.007	T	0.72606	-0.4242	10	0.23891	T	0.37	.	7.3647	0.26766	0.0:0.7033:0.0:0.2967	.	6;14	G3V2N2;Q9UIU6	.;SIX4_HUMAN	T	14;6	ENSP00000216513:A14T	ENSP00000216513:A14T	A	-	1	0	SIX4	60260506	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.862000	0.39448	0.674000	0.31244	0.290000	0.19541	GCG		0.607	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			22	42	0	0	0	1	0	22	42					T	61190753	C	T	61190753	3	4	46	1	0	0	0	0	1	0	0	0	14349	739	26	3	2317	3	SIX4	14	61190753	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	1	61190753	46158787	21	873	7	2								
STON2	85439	broad.mit.edu	37	chr14	81743629	81743629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaaacactgtcctgaaccGcattagctcaaaccggcacg	8	14	1	1	rs148063041		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:81743629G>A	ENST00000267540.2	-	4	2226	c.2026C>T	c.(2026-2028)Cgg>Tgg	p.R676W	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.R676W	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	676	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCCTGAACCGCATTAGCTCA	0.537																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2026-2028)Cgg>Tgg		stonin 2		G	TRP/ARG	0,4406		0,0,2203	115	105	108		2026	4.2	1	14	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense	STON2	NM_033104.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	676/906	81743629	1,13005	2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743629G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2026C>T	14.37:g.81743629G>A	ENSP00000267540:p.Arg676Trp					STON2_ENST00000267540.2_Missense_Mutation_p.R676W	p.R676W	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2438	-			676			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2026C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070494	0.55539	0.0	1.16E-4	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.22336	1.96;1.96	6.06	4.19	0.49359	Clathrin adaptor, mu subunit, C-terminal (3);	0.070917	0.56097	D	0.000028	T	0.51991	0.1707	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.61372	-0.7076	10	0.87932	D	0	-23.5617	15.0097	0.71542	0.0:0.0:0.5028:0.4972	.	676;676	Q8WXE9;G3V2T7	STON2_HUMAN;.	W	676;688;676	ENSP00000450857:R676W;ENSP00000267540:R676W	ENSP00000267540:R676W	R	-	1	2	STON2	80813382	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.286000	0.51724	0.838000	0.34948	0.650000	0.86243	CGG		0.537	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		3	42	0	0	0	1	0	3	42					A	81743629	G	A	81743629	3	1	46	1	0	0	0	0	1	0	0	0	15317	1086	38	1	697	1	STON2	14	81743629	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	20552876	81743629	25605911	22	874										
CFDP1	10428	broad.mit.edu	37	chr16	75446587	75446587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcctcactactgcttcccTcagattctgaattggcatcc	5	16	3	2			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr16:75446587T>C	ENST00000283882.3	-	3	380	c.248A>G	c.(247-249)gAg>gGg	p.E83G	RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G|CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_5'Flank	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	83	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						ACTGCTTCCCTCAGATTCTGA	0.493																																						ENST00000283882.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(247-249)gAg>gGg		craniofacial development protein 1							228	209	215					16																	75446587		2198	4300	6498	SO:0001583	missense	10428				multicellular organismal development			g.chr16:75446587T>C	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"Bucentaur", "centromere protein 29"	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.248A>G	16.37:g.75446587T>C	ENSP00000283882:p.Glu83Gly					RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G|CFDP1_ENST00000564286.1_5'UTR	p.E83G	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN			3	380	-			83			Glu-rich.		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Missense_Mutation	SNP	ENST00000283882.3	37	c.248A>G	CCDS10916.1	.	.	.	.	.	.	.	.	.	.	T	8.604	0.887425	0.17540	.	.	ENSG00000153774	ENST00000283882	T	0.47177	0.85	5.98	0.953	0.19590	.	0.660478	0.15326	N	0.268307	T	0.21550	0.0519	N	0.05230	-0.09	0.25185	N	0.990172	B	0.02656	0.0	B	0.01281	0.0	T	0.18304	-1.0341	10	0.22109	T	0.4	-4.4653	6.7592	0.23530	0.0:0.3824:0.0:0.6176	.	83	Q9UEE9	CFDP1_HUMAN	G	83	ENSP00000283882:E83G	ENSP00000283882:E83G	E	-	2	0	CFDP1	74004088	0.048000	0.20356	0.880000	0.34516	0.353000	0.29299	0.475000	0.22164	0.295000	0.22570	0.482000	0.46254	GAG		0.493	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		4	129	0	0	0	1	0	4	129					C	75446587	T	C	75446587	3	2	46	1	0	0	0	0	1	0	0	0	3282	1551	54	4	671	4	CFDP1	16	75446587	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		75446587	14908166	23	875										
CCDC144A	9720	broad.mit.edu	37	chr17	16665777	16665777	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgactttaataaaaccgaaTtggaaagatataaggaactc	7	7	0	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:16665777T>C	ENST00000360524.8	+	14	3893	c.3817T>C	c.(3817-3819)Ttg>Ctg	p.L1273L	CCDC144A_ENST00000456009.1_Silent_p.L1039L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1273L|CCDC144A_ENST00000443444.2_Silent_p.L1273L|CCDC144A_ENST00000399273.1_Silent_p.L1273L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1273																	TAAAACCGAATTGGAAAGATA	0.333																																						ENST00000443444.2																			0											c.(3817-3819)Ttg>Ctg		coiled-coil domain containing 144A							10	12	12					17																	16665777		1783	4037	5820	SO:0001819	synonymous_variant	9720							g.chr17:16665777T>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3817T>C	17.37:g.16665777T>C						CCDC144A_ENST00000456009.1_Silent_p.L1039L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1273L|CCDC144A_ENST00000399273.1_Silent_p.L1273L|CCDC144A_ENST00000360524.8_Silent_p.L1273L	p.L1273L			A2RUR9	C144A_HUMAN			14	3957	+			1273					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.3817T>C	CCDS45621.1																																																																																				0.333	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			3	3	0	0	0	1	0	3	3					C	16665777	T	C	16665777	2	2	46	1	0	0	0	0	0	0	0	1	2777	1490	52	4		4	CCDC144A	17	16665777	Silent	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08		16665777	64529433	24	876										
LGALS9C	654346	broad.mit.edu	37	chr17	18396088	18396088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatgagaatgctgtggtccGtaacacccagatcaacaact	9	10	1	3			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:18396088G>A	ENST00000328114.6	+	10	920	c.839G>A	c.(838-840)cGt>cAt	p.R280H	LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	280	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GCTGTGGTCCGTAACACCCAG	0.587																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.(838-840)cGt>cAt		lectin, galactoside-binding, soluble, 9C							58	35	43					17																	18396088		2193	4194	6387	SO:0001583	missense	654346						sugar binding	g.chr17:18396088G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.839G>A	17.37:g.18396088G>A	ENSP00000329932:p.Arg280His					LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H	p.R280H	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			10	920	+			280			Galectin 2.		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.839G>A	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	15.86	2.957948	0.53400	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.14144	2.53;2.53	2.26	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	H	0.96691	3.865	0.45995	D	0.998808	D	0.89917	1.0	D	0.67725	0.953	T	0.62163	-0.6912	10	0.72032	D	0.01	.	10.6469	0.45626	0.0:0.0:1.0:0.0	.	280	Q6DKI2	LEG9C_HUMAN	H	192;280	ENSP00000390286:R192H;ENSP00000329932:R280H	ENSP00000329932:R280H	R	+	2	0	LGALS9C	18336813	0.987000	0.35691	0.991000	0.47740	0.372000	0.29890	6.994000	0.76251	1.578000	0.49821	0.184000	0.17185	CGT		0.587	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		4	66	0	0	0	1	0	4	66					A	18396088	G	A	18396088	3	1	46	1	0	0	0	0	1	0	0	0	8750	1145	40	1	877	1	LGALS9C	17	18396088	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	1730311	18396088	62799122	25	877										
LGALS9B	284194	broad.mit.edu	37	chr17	20354879	20354879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttgttgatctgggtgttaCggaccacagcattctcatca	10	9	3	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:20354879C>T	ENST00000423676.3	-	10	902	c.839G>A	c.(838-840)cGt>cAt	p.R280H	LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	280	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGGGTGTTACGGACCACAGC	0.587																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(838-840)cGt>cAt		lectin, galactoside-binding, soluble, 9B																																				SO:0001583	missense	284194						sugar binding	g.chr17:20354879C>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"Lectins, galactoside-binding"	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.839G>A	17.37:g.20354879C>T	ENSP00000388841:p.Arg280His					LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H	p.R280H			Q3B8N2	LEG9B_HUMAN			10	902	-			280			Galectin 2.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.839G>A		.	.	.	.	.	.	.	.	.	.	C	14.72	2.620517	0.46736	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	1.97	0.26223	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	H	0.96691	3.865	0.44523	D	0.997471	D;D	0.89917	0.998;1.0	D;D	0.74348	0.927;0.983	D	0.87431	0.2388	9	0.66056	D	0.02	.	10.0176	0.42024	0.0:1.0:0.0:0.0	.	280;279	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	H	279;280	.	ENSP00000315564:R280H	R	-	2	0	LGALS9B	20295471	1.000000	0.71417	0.998000	0.56505	0.415000	0.31203	5.479000	0.66813	1.434000	0.47414	0.194000	0.17425	CGT		0.587	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		14	19	0	0	0	1	0	14	19					T	20354879	C	T	20354879	3	4	46	1	0	0	0	0	1	0	0	0	8749	536	19	1	239	1	LGALS9B	17	20354879	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	1958791	20354879	60840331	26	878										
TANC2	26115	broad.mit.edu	37	chr17	61499249	61499249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cctgtacaggcagctgtcccGagactctcggcaagggcaga	13	13	1	2	rs143701650		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:61499249G>A	ENST00000424789.2	+	25	5910	c.5906G>A	c.(5905-5907)cGa>cAa	p.R1969Q	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1969					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCTGTCCCGAGACTCTCGG	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		19601	0		0	False		,,,				2504	0					ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5905-5907)cGa>cAa		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							62	64	64					17																	61499249		2029	4191	6220	SO:0001583	missense	26115						binding	g.chr17:61499249G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5906G>A	17.37:g.61499249G>A	ENSP00000387593:p.Arg1969Gln					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q	p.R1969Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5910	+			1969					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5906G>A	CCDS45754.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.0	4.086452	0.76642	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69040	-0.37;-0.37	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	N	0.24115	0.695	0.50813	D	0.999899	D	0.61697	0.99	P	0.47603	0.551	T	0.65059	-0.6260	10	0.51188	T	0.08	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	1969	Q9HCD6	TANC2_HUMAN	Q	1979;1969	ENSP00000374171:R1979Q;ENSP00000387593:R1969Q	ENSP00000374171:R1979Q	R	+	2	0	TANC2	58852981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.866000	0.98385	0.650000	0.86243	CGA		0.532	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			13	24	0	0	0	1	0	13	24					A	61499249	G	A	61499249	3	1	46	1	0	0	0	0	1	0	0	0	15542	1058	37	2	6004	2	TANC2	17	61499249	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	41144370	61499249	19695961	27	879										
MUC16	94025	broad.mit.edu	37	chr19	9075100	9075100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagtccctgtccaggaggCtgtggctgatgtatccaaag	14	9	0	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:9075100C>T	ENST00000397910.4	-	3	12549	c.12346G>A	c.(12346-12348)Gcc>Acc	p.A4116T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4118	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGGAGGCTGTGGCTGAT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12346-12348)Gcc>Acc		mucin 16, cell surface associated							110	107	108					19																	9075100		2105	4220	6325	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075100C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12346G>A	19.37:g.9075100C>T	ENSP00000381008:p.Ala4116Thr						p.A4116T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12549	-			4118			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12346G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.589977	0.28357	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.09	-1.9	0.07665	.	.	.	.	.	T	0.26231	0.0640	L	0.50333	1.59	.	.	.	D	0.54964	0.969	P	0.50192	0.634	T	0.31696	-0.9934	8	0.87932	D	0	.	4.4288	0.11517	0.4457:0.3348:0.2195:0.0	.	4116	B5ME49	.	T	4116	ENSP00000381008:A4116T	ENSP00000381008:A4116T	A	-	1	0	MUC16	8936100	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-1.196000	0.03041	-0.342000	0.08363	0.313000	0.20887	GCC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	38	0	0	0	1	0	8	38					T	9075100	C	T	9075100	3	4	46	1	0	0	0	0	1	0	0	0	9973	797	28	3	31505	3	MUC16	19	9075100	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		9075100	50053883	28	880										
ANKRD27	84079	broad.mit.edu	37	chr19	33113510	33113510	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgactccacgtcgtagtaaaCcagagccttcacacactgca	7	15	1	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:33113510C>G	ENST00000306065.4	-	18	1803	c.1645G>C	c.(1645-1647)Gtt>Ctt	p.V549L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	549					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCGTAGTAAACCAGAGCCTTC	0.547																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1645-1647)Gtt>Ctt		ankyrin repeat domain 27 (VPS9 domain)							128	110	116					19																	33113510		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113510C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1645G>C	19.37:g.33113510C>G	ENSP00000304292:p.Val549Leu						p.V549L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			18	1803	-	Esophageal squamous(110;0.137)		549					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1645G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939617	0.52972	.	.	ENSG00000105186	ENST00000306065	T	0.56776	0.44	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.246207	0.28130	N	0.016485	T	0.26304	0.0642	N	0.00894	-1.105	0.80722	D	1	B	0.28713	0.22	B	0.30495	0.116	T	0.29640	-1.0005	10	0.10636	T	0.68	-15.6216	19.3213	0.94240	0.0:1.0:0.0:0.0	.	549	Q96NW4	ANR27_HUMAN	L	549	ENSP00000304292:V549L	ENSP00000304292:V549L	V	-	1	0	ANKRD27	37805350	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.307000	0.78920	2.645000	0.89757	0.655000	0.94253	GTT		0.547	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		3	57	0	0	0	1	0	3	57					G	33113510	C	G	33113510	3	3	46	1	0	0	0	0	1	0	0	0	655	507	18	5	1555	5	ANKRD27	19	33113510	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	24038410	33113510	26015473	29	881										
ZNF780A	284323	broad.mit.edu	37	chr19	40580901	40580901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaacaaggcttgagccacgaTtgaaggccttcccacagtct	10	12	1	2	rs548964777		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:40580901T>C	ENST00000595687.2	-	6	1657	c.1448A>G	c.(1447-1449)aAt>aGt	p.N483S	ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|ZNF780A_ENST00000450241.2_Missense_Mutation_p.N449S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.N484S|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAGCCACGATTGAAGGCCTT	0.423													t|||	1	0.000199681	0	0	5008	,	,		22882	0.001		0	False		,,,				2504	0					ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1345-1347)aAt>aGt		zinc finger protein 780A							115	112	113					19																	40580901		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580901T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1448A>G	19.37:g.40580901T>C	ENSP00000472189:p.Asn483Ser					ZNF780A_ENST00000595687.2_Missense_Mutation_p.N483S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000414720.2_Intron	p.N449S			O75290	Z780A_HUMAN			6	1657	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		483					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1346A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	0.066	-1.212240	0.01555	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.07216	3.21;3.21	1.93	0.815	0.18763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00859	-1.14	0.09310	N	1	B;B	0.28933	0.228;0.013	B;B	0.33454	0.164;0.027	T	0.42849	-0.9427	9	0.02654	T	1	.	2.9832	0.05960	0.0:0.5077:0.2858:0.2065	.	484;483	E9PB48;O75290	.;Z780A_HUMAN	S	483;484;483	ENSP00000400997:N484S;ENSP00000341507:N483S	ENSP00000341507:N483S	N	-	2	0	ZNF780A	45272741	0.000000	0.05858	0.003000	0.11579	0.654000	0.38779	-5.575000	0.00112	0.096000	0.17463	0.260000	0.18958	AAT		0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		46	47	0	0	0	1	0	46	47					C	40580901	T	C	40580901	3	2	46	1	0	0	0	0	1	0	0	0	18149	1493	52	4	608	4	ZNF780A	19	40580901	Missense_Mutation	SNP	T	TCGA-QR-A70P-01A-11D-A35D-08	7467391	40580901	18548082	30	882										
PSG8	440533	broad.mit.edu	37	chr19	43262332	43262332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccattcatccaccacaggtaGcttgcgtccggagtctcagg	10	14	2	0			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:43262332G>A	ENST00000306511.4	-	3	628	c.531C>T	c.(529-531)agC>agT	p.S177S	PSG8_ENST00000404209.4_Silent_p.S177S|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.S55S|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	177	Ig-like C2-type 1.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACCACAGGTAGCTTGCGTCCG	0.527																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(529-531)agC>agT		pregnancy specific beta-1-glycoprotein 8							230	235	233					19																	43262332		2203	4297	6500	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43262332G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.531C>T	19.37:g.43262332G>A						PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.S55S|PSG8_ENST00000306511.4_Silent_p.S177S	p.S177S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			3	627	-		Prostate(69;0.00899)	177			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.531C>T	CCDS33037.1																																																																																				0.527	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			5	246	0	0	0	1	0	5	246					A	43262332	G	A	43262332	2	1	46	1	0	0	0	0	0	0	0	1	12661	962	34	3		3	PSG8	19	43262332	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08	2681431	43262332	15866651	31	883										
MYH14	79784	broad.mit.edu	37	chr19	50771562	50771564	+	In_Frame_Del	DEL	GAG	GAG	-													0	0	1	0	0	0	1	1	0	agctggaggctcgcgtgggcGaggaggaggagtgcagccgt					rs367588704		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:50771562_50771564delGAG	ENST00000596571.1	+	21	2848_2850	c.2848_2850delGAG	c.(2848-2850)gagdel	p.E953del	MYH14_ENST00000262269.8_In_Frame_Del_p.E994del|MYH14_ENST00000440075.2_In_Frame_Del_p.E994del|MYH14_ENST00000601313.1_In_Frame_Del_p.E994del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000425460.1_In_Frame_Del_p.E961del			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	953					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCGCGTGGGCGAGGAGGAGGAGT	0.655																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2971-2973)del		myosin, heavy chain 14, non-muscle																																				SO:0001651	inframe_deletion	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50771562_50771564delGAG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2848_2850delGAG	19.37:g.50771571_50771573delGAG	ENSP00000472819:p.Glu953del					MYH14_ENST00000262269.8_In_Frame_Del_p.E994del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000601313.1_In_Frame_Del_p.E994del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000596571.1_In_Frame_Del_p.E953del|MYH14_ENST00000425460.1_In_Frame_Del_p.E961del	p.E994del			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	24	3018_3020	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	953					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	In_Frame_Del	DEL	ENST00000596571.1	37	c.2971_2973delGAG	CCDS59411.1																																																																																				0.655	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		2	4						2	4	---	---	---	---	-	50771564	GAG	-	50771562	7	5	46	1	0	1	0	1	0	0	0	0	10033	1059	37	0	3061	0	MYH14	19	50771562	In_Frame_Del	DEL	GAG	TCGA-QR-A70P-01A-11D-A35D-08	7509230	50771562	8357421	32	884										
PAX1	5075	broad.mit.edu	37	chr20	21687217	21687217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagtcggcagctccgcgtatCccacggctgcgtgagcaaga	13	14	0	2			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr20:21687217C>A	ENST00000398485.2	+	2	482	c.428C>A	c.(427-429)tCc>tAc	p.S143Y	PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	143	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTCCGCGTATCCCACGGCTGC	0.682																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(427-429)tCc>tAc		paired box 1							48	49	49					20																	21687217		2203	4299	6502	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687217C>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.428C>A	20.37:g.21687217C>A	ENSP00000381499:p.Ser143Tyr					PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y	p.S143Y	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	482	+			143			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.428C>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941119	0.53079	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99701	-6.45;-6.45	5.14	4.18	0.49190	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97042	0.9758	10	0.87932	D	0	.	15.2419	0.73476	0.0:0.8585:0.1415:0.0	.	119;49;143	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	Y	143;119	ENSP00000381499:S143Y;ENSP00000410355:S119Y	ENSP00000381499:S143Y	S	+	2	0	PAX1	21635217	1.000000	0.71417	0.988000	0.46212	0.144000	0.21451	7.653000	0.83643	1.136000	0.42199	-0.175000	0.13238	TCC		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			19	22	1	0	8.00594e-06	1	8.00594e-06	19	22					A	21687217	C	A	21687217	3	1	46	1	0	0	0	0	1	0	0	0	11478	855	30	5	434	5	PAX1	20	21687217	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		21687217	41338303	33	885										
SEMG2	6407	broad.mit.edu	37	chr20	43850691	43850691	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccaagctcatcatgggacaCaaaatccttctcaagatcag	7	12	4	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr20:43850691C>A	ENST00000372769.3	+	2	508	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	140	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCATGGGACACAAAATCCTTC	0.388																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(418-420)Caa>Aaa		semenogelin II							104	93	96					20																	43850691		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850691C>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.418C>A	20.37:g.43850691C>A	ENSP00000361855:p.Gln140Lys						p.Q140K	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	508	+		Myeloproliferative disorder(115;0.0122)	140			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.418C>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725720	0.30593	.	.	ENSG00000124157	ENST00000372769	T	0.11063	2.81	1.2	1.2	0.21068	.	.	.	.	.	T	0.26268	0.0641	M	0.73217	2.22	0.09310	N	1	P;D;D	0.59357	0.932;0.985;0.985	D;D;D	0.73708	0.949;0.981;0.981	T	0.04041	-1.0982	9	0.87932	D	0	.	5.7752	0.18275	0.0:1.0:0.0:0.0	.	140;140;140	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	K	140	ENSP00000361855:Q140K	ENSP00000361855:Q140K	Q	+	1	0	SEMG2	43284105	0.003000	0.15002	0.028000	0.17463	0.004000	0.04260	-0.680000	0.05197	0.956000	0.37904	0.655000	0.94253	CAA		0.388	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		29	44	1	0	1.77063e-15	1	1.857e-15	29	44					A	43850691	C	A	43850691	3	1	46	1	0	0	0	0	1	0	0	0	14045	479	17	5	424	5	SEMG2	20	43850691	Missense_Mutation	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08	22163474	43850691	19174829	34	886										
KRTAP12-3	386683	broad.mit.edu	37	chr21	46077965	46077965	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacagcccctgccaggcatcCtgctatgtgcccgtgagctg	11	16	0	1	rs587757920	byFrequency	TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr21:46077965C>T	ENST00000397907.1	+	1	117	c.69C>T	c.(67-69)tcC>tcT	p.S23S	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	23	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGCATCCTGCTATGTGC	0.672																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(67-69)tcC>tcT		keratin associated protein 12-3							82	97	92					21																	46077965		2188	4263	6451	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46077965C>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.69C>T	21.37:g.46077965C>T						TSPEAR_ENST00000323084.4_Intron	p.S23S	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	117	+			23			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.69C>T	CCDS42964.1																																																																																				0.672	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			34	42	0	0	0	1	0	34	42					T	46077965	C	T	46077965	2	4	46	1	0	0	0	0	0	0	0	1	8520	668	24	3		3	KRTAP12-3	21	46077965	Silent	SNP	C	TCGA-QR-A70P-01A-11D-A35D-08		46077965	2051930	35	887										
MYO18B	84700	broad.mit.edu	37	chr22	26165009	26165009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagaatgggggagaaagcaGgtgagcttcggagcacgact	17	6	0	3			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr22:26165009G>A	ENST00000407587.2	+	4	1295	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	MYO18B_ENST00000335473.7_Missense_Mutation_p.G376S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAGAAAGCAGGTGAGCTTCG	0.572																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1126-1128)Ggt>Agt		myosin XVIIIB							38	42	41					22																	26165009		2092	4209	6301	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165009G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1126G>A	22.37:g.26165009G>A	ENSP00000386096:p.Gly376Ser					MYO18B_ENST00000407587.2_Missense_Mutation_p.G376S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S	p.G376S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1376	+			376					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1126G>A		.	.	.	.	.	.	.	.	.	.	G	11.40	1.627690	0.28978	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.14;-2.14;-2.19	3.15	-1.89	0.07689	.	1.041620	0.07694	N	0.939220	T	0.75302	0.3831	N	0.24115	0.695	0.09310	N	1	B;B;B	0.32829	0.267;0.386;0.386	B;B;B	0.30646	0.055;0.118;0.118	T	0.59215	-0.7496	10	0.19147	T	0.46	.	9.3198	0.37957	0.0:0.4501:0.4049:0.145	.	376;376;376	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	S	376	ENSP00000441229:G376S;ENSP00000334563:G376S;ENSP00000386096:G376S	ENSP00000334563:G376S	G	+	1	0	MYO18B	24495009	0.027000	0.19231	0.007000	0.13788	0.149000	0.21700	2.366000	0.44204	-0.253000	0.09514	0.491000	0.48974	GGT		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	1	0	0	0	1	0	4	1					A	26165009	G	A	26165009	3	1	46	1	0	0	0	0	1	0	0	0	10066	1000	35	3	1136	3	MYO18B	22	26165009	Missense_Mutation	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		26165009	25139557	36	888										
VSIG4	11326	broad.mit.edu	37	chrX	65242294	65242294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagcagccacttgcgaagatGgccaccctcatggtttctcc	10	14	2	1			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chrX:65242294G>A	ENST00000374737.4	-	8	1119	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Silent_p.A243A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	337					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGCGAAGATGGCCACCCTCA	0.562																																						ENST00000374737.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1009-1011)gcC>gcT		V-set and immunoglobulin domain containing 4							62	43	49					X																	65242294		2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242294G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1011C>T	X.37:g.65242294G>A						VSIG4_ENST00000412866.2_Silent_p.A243A|VSIG4_ENST00000455586.2_3'UTR	p.A337A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN			8	1119	-			337					Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.1011C>T	CCDS14383.1																																																																																				0.562	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		10	18	0	0	0	1	0	10	18					A	65242294	G	A	65242294	2	1	46	1	0	0	0	0	0	0	0	1	17222	1335	47	3		3	VSIG4	23	65242294	Silent	SNP	G	TCGA-QR-A70P-01A-11D-A35D-08		65242294	90028266	37	889										
CCT4	10575	broad.mit.edu	37	chr2	62099293	62099293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgttactgtagaaatgggaTtcaggccggcattttcagct	11	8	2	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr2:62099293T>C	ENST00000394440.3	-	12	1711	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	472					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AGAAATGGGATTCAGGCCGGC	0.433																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1414-1416)aAt>aGt		chaperonin containing TCP1, subunit 4 (delta)							102	101	101					2																	62099293		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099293T>C		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1415A>G	2.37:g.62099293T>C	ENSP00000377958:p.Asn472Ser					CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S|CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S	p.N472S	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		12	1711	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		472					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1415A>G	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157601	0.57368	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.42632	1.34	0.80722	D	1	B;B	0.20459	0.045;0.016	B;B	0.23018	0.043;0.027	T	0.72394	-0.4307	10	0.48119	T	0.1	-25.4008	15.7401	0.77887	0.0:0.0:0.0:1.0	.	442;472	F5H5W3;P50991	.;TCPD_HUMAN	S	472;442;322;416	ENSP00000377958:N472S;ENSP00000443061:N442S;ENSP00000443451:N322S;ENSP00000442174:N416S	ENSP00000377958:N472S	N	-	2	0	CCT4	61952797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.231000	0.72307	2.246000	0.74042	0.533000	0.62120	AAT		0.433	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			44	91	0	0	0	1	0	44	91					C	62099293	T	C	62099293	3	2	47	1	0	0	0	0	1	0	0	0	2955	1493	52	4	216	4	CCT4	2	62099293	Missense_Mutation	SNP	T	TCGA-QR-A70Q-01A-13D-A35D-08		62099293	181100080	1	890										
WDR33	55339	broad.mit.edu	37	chr2	128522429	128522429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctaatcgcctccttatgtGcctggaacatcttgacgttg	8	12	2	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr2:128522429G>A	ENST00000322313.4	-	6	757	c.599C>T	c.(598-600)gCa>gTa	p.A200V	WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	200					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCTTATGTGCCTGGAACAT	0.413																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(598-600)gCa>gTa		WD repeat domain 33							190	152	165					2																	128522429		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128522429G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.599C>T	2.37:g.128522429G>A	ENSP00000325377:p.Ala200Val					WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V	p.A200V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	6	757	-	Colorectal(110;0.1)		200					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.599C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592900	0.86953	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658	T;T;T;T	0.62498	0.02;0.02;0.02;5.01	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	L	0.47716	1.5	0.80722	D	1	D;D;D	0.69078	0.994;0.99;0.997	D;P;D	0.80764	0.91;0.817;0.994	T	0.76206	-0.3044	10	0.66056	D	0.02	-11.5499	19.8478	0.96722	0.0:0.0:1.0:0.0	.	200;200;200	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	V	200;122;200;200	ENSP00000325377:A200V;ENSP00000397547:A122V;ENSP00000376730:A200V;ENSP00000387186:A200V	ENSP00000325377:A200V	A	-	2	0	WDR33	128238899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.698000	0.92095	0.655000	0.94253	GCA		0.413	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		17	137	0	0	0	1	0	17	137					A	128522429	G	A	128522429	3	1	47	1	0	0	0	0	1	0	0	0	17284	1319	46	3	3888	3	WDR33	2	128522429	Missense_Mutation	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08	66423136	128522429	114676944	2	891										
TADA3	10474	broad.mit.edu	37	chr3	9831245	9831245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagtaactcctcaagtgtgCggacctcctcgctggtgatg	11	12	2	1	rs149462962		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr3:9831245C>T	ENST00000301964.2	-	4	1070	c.512G>A	c.(511-513)cGc>cAc	p.R171H	TADA3_ENST00000492635.1_5'Flank|ARPC4_ENST00000498623.2_5'Flank|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000343450.2_Missense_Mutation_p.R171H|TADA3_ENST00000440161.1_Missense_Mutation_p.R171H|ARPC4_ENST00000287613.7_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	171					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CTCAAGTGTGCGGACCTCCTC	0.562																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(511-513)cGc>cAc		transcriptional adaptor 3		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	76	65	69		512,512	5.6	1	3	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	TADA3	NM_006354.2,NM_133480.1	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	171/433,171/370	9831245	2,13004	2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831245C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.512G>A	3.37:g.9831245C>T	ENSP00000307684:p.Arg171His					TADA3_ENST00000301964.2_Missense_Mutation_p.R171H|TADA3_ENST00000440161.1_Missense_Mutation_p.R171H	p.R171H	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			4	1059	-			171					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.512G>A	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774272	0.69992	4.54E-4	0.0	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.56	5.56	0.83823	.	0.055093	0.64402	D	0.000001	T	0.47637	0.1456	L	0.57536	1.79	0.80722	D	1	P	0.48350	0.909	B	0.38327	0.271	T	0.55315	-0.8160	9	0.62326	D	0.03	-29.5567	12.8232	0.57704	0.0:0.9253:0.0:0.0747	.	171	O75528	TADA3_HUMAN	H	171	.	ENSP00000307684:R171H	R	-	2	0	TADA3	9806245	1.000000	0.71417	0.999000	0.59377	0.397000	0.30659	5.742000	0.68646	2.622000	0.88805	0.655000	0.94253	CGC		0.562	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			3	39	0	0	0	1	0	3	39					T	9831245	C	T	9831245	3	4	47	1	0	0	0	0	1	0	0	0	15509	768	27	1	814	1	TADA3	3	9831245	Missense_Mutation	SNP	C	TCGA-QR-A70Q-01A-13D-A35D-08		9831245	188191185	3	892										
DPPA4	55211	broad.mit.edu	37	chr3	109050579	109050579	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtccatcctttaaaaagttAccttttgatttgggtaggca	8	8	0	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr3:109050579A>G	ENST00000335658.6	-	4	445		c.e4+1		DPPA4_ENST00000478791.1_Splice_Site	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4						lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAAAAAGTTACCTTTTGATT	0.398																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.e4+1		developmental pluripotency associated 4							96	91	93					3																	109050579		2203	4300	6503	SO:0001630	splice_region_variant	55211					nucleus	protein binding	g.chr3:109050579A>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.390+1T>C	3.37:g.109050579A>G						DPPA4_ENST00000478791.1_Splice_Site		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			4	445	-								A8K4M7|Q9H9N5|Q9NVI6	Splice_Site	SNP	ENST00000335658.6	37		CCDS33814.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072356	0.36566	.	.	ENSG00000121570	ENST00000335658	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8438	0.41015	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPPA4	110533269	0.997000	0.39634	0.718000	0.30602	0.208000	0.24298	3.282000	0.51693	2.104000	0.64026	0.529000	0.55759	.		0.398	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189	Intron	4	65	0	0	0	1	0	4	65					G	109050579	A	G	109050579	5	3	47	1	0	0	0	0	0	0	1	0	4736	405	14	4	538	4	DPPA4	3	109050579	Splice_Site	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08	99219334	109050579	88971851	4	893										
ALB	213	broad.mit.edu	37	chr4	74280766	74280766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aattaggtttttgtatgaatAtgcaagaaggcatcctgatt	9	4	0	3	rs537985931		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr4:74280766A>G	ENST00000503124.1	+	7	830	c.623A>G	c.(622-624)tAt>tGt	p.Y208C	ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.Y243C|ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000295897.4_Missense_Mutation_p.Y358C			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTATGAATATGCAAGAAGG	0.373																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1072-1074)tAt>tGt		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						139	140	140					4																	74280766		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74280766A>G	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.623A>G	4.37:g.74280766A>G	ENSP00000421027:p.Tyr208Cys					ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000503124.1_Missense_Mutation_p.Y208C|ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000401494.3_Missense_Mutation_p.Y243C|ALB_ENST00000505649.1_3'UTR	p.Y358C	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1162	+	Breast(15;0.00102)		358			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1073A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.85|13.85	2.359738|2.359738	0.41801|0.41801	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.74209	.|-0.82;-0.82;-0.82;-0.82;-0.82	5.84|5.84	-1.58|-1.58	0.08479|0.08479	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|0.630252	.|0.15625	.|N	.|0.252689	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.86502|0.86502	2.82|2.82	0.09310|0.09310	N|N	1|1	.|D;D;D;D;P	.|0.89917	.|1.0;0.994;1.0;0.983;0.884	.|D;D;D;P;P	.|0.97110	.|1.0;0.912;0.998;0.847;0.76	T|T	0.72500|0.72500	-0.4274|-0.4274	5|10	.|0.87932	.|D	.|0	-18.4176|-18.4176	6.6849|6.6849	0.23140|0.23140	0.4917:0.0:0.066:0.4422|0.4917:0.0:0.066:0.4422	.|.	.|243;166;208;358;358	.|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.|.;.;.;.;ALBU_HUMAN	M|C	202|358;166;208;358;243;367	.|ENSP00000295897:Y358C;ENSP00000401820:Y166C;ENSP00000421027:Y208C;ENSP00000422784:Y358C;ENSP00000384695:Y243C	.|ENSP00000295897:Y358C	I|Y	+|+	3|2	3|0	ALB|ALB	74499630|74499630	0.012000|0.012000	0.17670|0.17670	0.021000|0.021000	0.16686|0.16686	0.756000|0.756000	0.42949|0.42949	1.352000|1.352000	0.34033|0.34033	0.079000|0.079000	0.16929|0.16929	-0.333000|-0.333000	0.08304|0.08304	ATA|TAT		0.373	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		5	143	0	0	0	1	0	5	143					G	74280766	A	G	74280766	3	3	47	1	0	0	0	0	1	0	0	0	486	449	16	4	1107	4	ALB	4	74280766	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		74280766	116873510	5	894										
DEFB112	245915	broad.mit.edu	37	chr6	50011343	50011343	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctactgagtcctttgggAtccaattatttgggtccgta	9	10	0	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr6:50011343A>T	ENST00000322246.4	-	2	286	c.287T>A	c.(286-288)aTc>aAc	p.I96N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	96					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GTCCTTTGGGATCCAATTATT	0.413																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(286-288)aTc>aAc		defensin, beta 112							152	128	136					6																	50011343		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011343A>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"Defensins, beta"	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.287T>A	6.37:g.50011343A>T	ENSP00000319126:p.Ile96Asn						p.I96N	NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN			2	286	-	Lung NSC(77;0.042)		96					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.287T>A	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	A	7.536	0.659665	0.14645	.	.	ENSG00000180872	ENST00000322246	.	.	.	0.649	0.649	0.17806	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.15407	-1.0438	7	0.87932	D	0	.	.	.	.	.	96	Q30KQ8	DB112_HUMAN	N	96	.	ENSP00000319126:I96N	I	-	2	0	DEFB112	50119302	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.491000	0.22419	0.535000	0.28714	0.524000	0.50904	ATC		0.413	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		12	70	0	0	0	1	0	12	70					T	50011343	A	T	50011343	3	4	47	1	0	0	0	0	1	0	0	0	4401	333	12	5	57	5	DEFB112	6	50011343	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		50011343	121103724	6	895										
COG5	10466	broad.mit.edu	37	chr7	107167714	107167714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactctgagcagcttttgttAtctctctacttcccccttgc	6	14	3	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr7:107167714A>G	ENST00000347053.3	-	6	649	c.599T>C	c.(598-600)aTa>aCa	p.I200T	COG5_ENST00000297135.3_Missense_Mutation_p.I200T|COG5_ENST00000393603.2_Missense_Mutation_p.I200T|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	200					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCTTTTGTTATCTCTCTACT	0.348																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(598-600)aTa>aCa		component of oligomeric golgi complex 5							110	99	103					7																	107167714		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107167714A>G	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.599T>C	7.37:g.107167714A>G	ENSP00000334703:p.Ile200Thr					COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.I200T|COG5_ENST00000297135.3_Missense_Mutation_p.I200T	p.I200T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			6	870	-			200					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.599T>C	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.748835	0.89753	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.20332	2.1;2.1;2.08	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.77616	2.38	0.80722	D	1	D;D	0.71674	0.979;0.998	P;D	0.66351	0.702;0.943	T	0.42749	-0.9433	10	0.42905	T	0.14	-17.4091	15.837	0.78805	1.0:0.0:0.0:0.0	.	200;200	Q9UP83;Q9UP83-2	COG5_HUMAN;.	T	200	ENSP00000334703:I200T;ENSP00000297135:I200T;ENSP00000377228:I200T	ENSP00000297135:I200T	I	-	2	0	COG5	106954950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.199000	0.70637	0.528000	0.53228	ATA		0.348	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			5	56	0	0	0	1	0	5	56					G	107167714	A	G	107167714	3	3	47	1	0	0	0	0	1	0	0	0	3661	449	16	4	2055	4	COG5	7	107167714	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		107167714	51970949	7	896										
PRSS2	154754	broad.mit.edu	37	chr7	142481251	142481251	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttattctgaacaatgacatcAtgctgatcaagctctccaca	5	11	4	3	rs200856228		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAATGACATCATGCTGATCAA	0.522																																						ENST00000603901.1																			0																				201	140	159					7																	142481251		684	1494	2178			154754							g.chr7:142481251A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481251A>C								NR_001296.3						0	325	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	74	0	0	0	1	0	4	74					C	142481251	A	C	142481251	1	2	47	0	1	0	0	0	0	0	0	0	12617	217	8	5		5	PRSS2	7	142481251	RNA	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08	35313537	142481251	16657412	8	897										
TMC1	117531	broad.mit.edu	37	chr9	75420375	75420375	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggactttctaagggcatgTtttgtgaggttttgcaatta	13	4	1	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr9:75420375T>G	ENST00000297784.5	+	18	2184	c.1644T>G	c.(1642-1644)tgT>tgG	p.C548W	TMC1_ENST00000396237.3_Missense_Mutation_p.C548W|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	548					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAAGGGCATGTTTTGTGAGGT	0.353																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1642-1644)tgT>tgG		transmembrane channel-like 1							280	272	275					9																	75420375		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75420375T>G	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1644T>G	9.37:g.75420375T>G	ENSP00000297784:p.Cys548Trp					TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W|TMC1_ENST00000396237.3_Missense_Mutation_p.C548W	p.C548W	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			18	2184	+			548					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1644T>G	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212777	0.58452	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.62941	-0.01;-0.01;-0.01	6.08	-0.185	0.13276	.	0.116963	0.56097	D	0.000025	T	0.56247	0.1972	N	0.14661	0.345	0.45806	D	0.998683	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.68353	0.957;0.957;0.932	T	0.56341	-0.7995	10	0.72032	D	0.01	-20.2147	6.7617	0.23544	0.1157:0.4045:0.0:0.4798	.	515;515;548	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	W	548;548;515;515;515;542;548	ENSP00000297784:C548W;ENSP00000341433:C548W;ENSP00000379538:C548W	ENSP00000297784:C548W	C	+	3	2	TMC1	74610195	0.165000	0.22948	1.000000	0.80357	0.985000	0.73830	-0.579000	0.05834	0.159000	0.19401	0.482000	0.46254	TGT		0.353	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			9	201	0	0	0	1	0	9	201					G	75420375	T	G	75420375	3	3	47	1	0	0	0	0	1	0	0	0	15981	1731	60	5	1698	5	TMC1	9	75420375	Missense_Mutation	SNP	T	TCGA-QR-A70Q-01A-13D-A35D-08		75420375	65793056	9	898										
NUP188	23511	broad.mit.edu	37	chr9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactgactctgtggtgcgtcGccagctctttcttgacgtgc	12	12	3	2			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr9:131760467G>A	ENST00000372577.2	+	31	3410	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGTGCGTCGCCAGCTCTTT	0.438																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3388-3390)cGc>cAc		nucleoporin 188kDa							203	205	204					9																	131760467		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760467G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3389G>A	9.37:g.131760467G>A	ENSP00000361658:p.Arg1130His						p.R1130H	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			31	3410	+			1130					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3389G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990052	0.18966	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.31510	1.49	5.67	2.86	0.33363	.	0.257998	0.39544	N	0.001326	T	0.20740	0.0499	L	0.36672	1.1	0.30026	N	0.813911	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.22347	-1.0219	10	0.15499	T	0.54	-2.5035	9.5606	0.39366	0.3138:0.0:0.6862:0.0	.	463;1130	E9PET9;Q5SRE5	.;NU188_HUMAN	H	1019;1130	ENSP00000361658:R1130H	ENSP00000349125:R1019H	R	+	2	0	NUP188	130800288	0.998000	0.40836	1.000000	0.80357	0.579000	0.36224	0.717000	0.25851	0.349000	0.23975	-1.149000	0.01842	CGC		0.438	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			5	363	0	0	0	1	0	5	363					A	131760467	G	A	131760467	3	1	47	1	0	0	0	0	1	0	0	0	10758	1087	38	1	3511	1	NUP188	9	131760467	Missense_Mutation	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08	56340092	131760467	9452964	10	899										
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	294	0	0	0	1	0	4	294					C	12155673	A	C	12155673	3	2	47	1	0	0	0	0	1	0	0	0	18193	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-QR-A70Q-01A-13D-A35D-08		12155673	46973310	11	900										
PPP1R13L	10848	broad.mit.edu	37	chr19	45900240	45900240	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccgaacggggtgtctgcgCcgtcggtggccgccttccgg	17	14	1	0			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:45900240C>G	ENST00000418234.2	-	4	353	c.275G>C	c.(274-276)gGc>gCc	p.G92A	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	92	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTGTCTGCGCCGTCGGTGGC	0.721																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(274-276)gGc>gCc		protein phosphatase 1, regulatory subunit 13 like							15	22	20					19																	45900240		2155	4225	6380	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45900240C>G	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.275G>C	19.37:g.45900240C>G	ENSP00000403902:p.Gly92Ala					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A	p.G92A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	353	-		all_neural(266;0.224)|Ovarian(192;0.231)	92			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.275G>C	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849579	0.32699	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.59502	0.26;0.26	4.86	2.73	0.32206	.	0.736542	0.13822	N	0.360316	T	0.36580	0.0972	N	0.24115	0.695	0.09310	N	1	P;B	0.42456	0.78;0.147	B;B	0.39068	0.289;0.06	T	0.11966	-1.0566	10	0.10377	T	0.69	.	7.3649	0.26768	0.0:0.7966:0.0:0.2034	.	92;92	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	A	92	ENSP00000403902:G92A;ENSP00000354218:G92A	ENSP00000354218:G92A	G	-	2	0	PPP1R13L	50592080	0.041000	0.20044	0.173000	0.22940	0.748000	0.42578	1.383000	0.34385	0.572000	0.29383	0.462000	0.41574	GGC		0.721	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	13	0	0	0	1	0	5	13					G	45900240	C	G	45900240	3	3	47	1	0	0	0	0	1	0	0	0	12358	739	26	5	2251	5	PPP1R13L	19	45900240	Missense_Mutation	SNP	C	TCGA-QR-A70Q-01A-13D-A35D-08	33744567	45900240	13228743	12	901										
AHCY	191	broad.mit.edu	37	chr20	32878371	32878371	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctaccggccaaggatgatGtcaatacagcctgtggtggt	12	10	1	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr20:32878371G>A	ENST00000217426.2	-	7	917	c.840C>T	c.(838-840)gaC>gaT	p.D280D	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Silent_p.D252D	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	280					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGATGATGTCAATACAGC	0.587																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(754-756)gaC>gaT		adenosylhomocysteinase							155	148	151					20																	32878371		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878371G>A	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.840C>T	20.37:g.32878371G>A						AHCY_ENST00000217426.2_Silent_p.D280D	p.D252D	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			7	1142	-			280					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.756C>T	CCDS13233.1																																																																																				0.587	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		5	189	0	0	0	1	0	5	189					A	32878371	G	A	32878371	2	1	47	1	0	0	0	0	0	0	0	1	409	1368	48	3		3	AHCY	20	32878371	Silent	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08		32878371	30147149	13	902										
ARSA	410	broad.mit.edu	37	chr22	51065311	51065311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatcctggcgctgggcgtcgGccatgaggtcatgggcgaaa	17	10	1	1			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr22:51065311G>A	ENST00000547307.1	-	3	1034	c.629C>T	c.(628-630)gCc>gTc	p.A210V	ARSA_ENST00000356098.5_Missense_Mutation_p.A212V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000453344.2_Missense_Mutation_p.A126V|ARSA_ENST00000216124.5_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V			P15289	ARSA_HUMAN	arylsulfatase A	210					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CTGGGCGTCGGCCATGAGGTC	0.657																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(628-630)gCc>gTc		arylsulfatase A	Micafungin(DB01141)						92	108	103					22																	51065311		2202	4300	6502	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065311G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.629C>T	22.37:g.51065311G>A	ENSP00000448440:p.Ala210Val					ARSA_ENST00000356098.5_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V|ARSA_ENST00000216124.5_Missense_Mutation_p.A212V|ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000453344.2_Missense_Mutation_p.A126V	p.A210V			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1034	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	210					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.629C>T		.	.	.	.	.	.	.	.	.	.	G	7.148	0.583216	0.13749	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.37	2.93	0.34026	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.859545	0.10840	N	0.628376	D	0.91556	0.7333	L	0.48362	1.52	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.82750	-0.0303	10	0.35671	T	0.21	.	5.3441	0.16000	0.1936:0.0:0.6401:0.1664	.	210	P15289	ARSA_HUMAN	V	212;212;210;210;212;126;212	ENSP00000348406:A212V;ENSP00000216124:A212V;ENSP00000448440:A210V;ENSP00000448932:A210V;ENSP00000378983:A212V;ENSP00000412542:A126V;ENSP00000378981:A212V	ENSP00000216124:A212V	A	-	2	0	ARSA	49412177	0.004000	0.15560	0.269000	0.24586	0.299000	0.27559	1.494000	0.35616	1.279000	0.44446	0.505000	0.49811	GCC		0.657	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		4	157	0	0	0	1	0	4	157					A	51065311	G	A	51065311	3	1	47	1	0	0	0	0	1	0	0	0	987	1203	42	3	918	3	ARSA	22	51065311	Missense_Mutation	SNP	G	TCGA-QR-A70Q-01A-13D-A35D-08		51065311	239255	14	903										
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													0	0	1	0	0	0	1	1	0	cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		4	5						4	5	---	---	---	---	-	50350713	TCC	-	50350711	7	5	47	1	0	1	0	1	0	0	0	0	14296	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-QR-A70Q-01A-13D-A35D-08		50350711	104919849	15	904										
LDLRAD2	401944	broad.mit.edu	37	chr1	22142457	22142457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	accttgtggtgcctacttccGctgccagaatggcaggtgca	12	12	0	1	rs373576797		TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr1:22142457G>A	ENST00000344642.2	+	3	720	c.533G>A	c.(532-534)cGc>cAc	p.R178H	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178H	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	178	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCCTACTTCCGCTGCCAGAAT	0.622																																						ENST00000344642.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(532-534)cGc>cAc		low density lipoprotein receptor class A domain containing 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	85	78	80		533	-1.5	0.8	1		80	0,8600		0,0,4300	no	missense	LDLRAD2	NM_001013693.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	178/273	22142457	1,13005	2203	4300	6503	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22142457G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 2"				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.533G>A	1.37:g.22142457G>A	ENSP00000340988:p.Arg178His					LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178H	p.R178H	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	720	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	178			LDL-receptor class A.		B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.533G>A	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090065	0.36855	2.27E-4	0.0	ENSG00000187942	ENST00000344642;ENST00000543870	D;D	0.96136	-3.92;-3.92	4.29	-1.52	0.08637	.	1.045830	0.07567	N	0.917991	D	0.89072	0.6611	L	0.41356	1.27	0.25032	N	0.991268	B	0.29936	0.262	B	0.28849	0.095	T	0.77905	-0.2413	10	0.13853	T	0.58	-9.3861	1.2341	0.01949	0.2035:0.3268:0.3026:0.1671	.	178	Q5SZI1	LRAD2_HUMAN	H	178	ENSP00000340988:R178H;ENSP00000444097:R178H	ENSP00000340988:R178H	R	+	2	0	LDLRAD2	22015044	0.020000	0.18652	0.847000	0.33407	0.743000	0.42351	-0.686000	0.05161	0.082000	0.17018	-0.374000	0.07098	CGC		0.622	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		4	44	0	0	0	1	0	4	44					A	22142457	G	A	22142457	3	1	48	1	0	0	0	0	1	0	0	0	8706	1087	38	1	543	1	LDLRAD2	1	22142457	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		22142457	227108164	1	905										
WDR63	126820	broad.mit.edu	37	chr1	85547042	85547042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	ataaagaagacatttttgagGacctgcgcaacagagctgca	10	8	0	4			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr1:85547042G>A	ENST00000294664.6	+	4	409	c.229G>A	c.(229-231)Gac>Aac	p.D77N	WDR63_ENST00000326813.8_Missense_Mutation_p.D77N|WDR63_ENST00000370596.1_Missense_Mutation_p.D77N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	77										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CATTTTTGAGGACCTGCGCAA	0.378																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(229-231)Gac>Aac		WD repeat domain 63							107	108	108					1																	85547042		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85547042G>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.229G>A	1.37:g.85547042G>A	ENSP00000294664:p.Asp77Asn					WDR63_ENST00000370596.1_Missense_Mutation_p.D77N|WDR63_ENST00000326813.8_Missense_Mutation_p.D77N	p.D77N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	4	409	+			77					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.229G>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854088	0.71719	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.54370	-0.8304	10	0.35671	T	0.21	-0.447	20.1484	0.98083	0.0:0.0:1.0:0.0	.	77;77	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	N	77;77;77;64	ENSP00000359628:D77N;ENSP00000317463:D77N;ENSP00000294664:D77N;ENSP00000435102:D64N	ENSP00000294664:D77N	D	+	1	0	WDR63	85319630	1.000000	0.71417	0.197000	0.23402	0.045000	0.14185	9.135000	0.94478	2.770000	0.95276	0.650000	0.86243	GAC		0.378	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		21	34	0	0	0	1	0	21	34					A	85547042	G	A	85547042	3	1	48	1	0	0	0	0	1	0	0	0	17311	1174	41	3	239	3	WDR63	1	85547042	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08	63404585	85547042	163703579	2	906										
NBEAL2	23218	broad.mit.edu	37	chr3	47041446	47041446	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	ccgacaggctggctggcaagAtgtgctgacccggctatatg	14	11	0	2			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr3:47041446A>T	ENST00000450053.3	+	27	4036	c.3857A>T	c.(3856-3858)gAt>gTt	p.D1286V	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_De_novo_Start_OutOfFrame	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1286					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGCTGGCAAGATGTGCTGACC	0.632																																						ENST00000383740.2																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51								neurobeachin-like 2							26	32	30					3																	47041446		2183	4284	6467	SO:0001583	missense	23218						binding	g.chr3:47041446A>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3857A>T	3.37:g.47041446A>T	ENSP00000415034:p.Asp1286Val					NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Missense_Mutation_p.D1286V				Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	0	4036	+		Acute lymphoblastic leukemia(5;0.0534)						O60288|Q6P994|Q6UX91|Q8NAC9	Translation_Start_Site	SNP	ENST00000450053.3	37		CCDS46817.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902208	0.72754	.	.	ENSG00000160796	ENST00000450053	T	0.62498	0.02	5.5	5.5	0.81552	.	.	.	.	.	T	0.74966	0.3786	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77670	-0.2501	9	0.87932	D	0	.	13.5512	0.61734	1.0:0.0:0.0:0.0	.	1286	Q6ZNJ1	NBEL2_HUMAN	V	1286	ENSP00000415034:D1286V	ENSP00000415034:D1286V	D	+	2	0	NBEAL2	47016450	1.000000	0.71417	0.995000	0.50966	0.623000	0.37688	7.293000	0.78740	2.085000	0.62840	0.459000	0.35465	GAT		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		10	30	0	0	0	1	0	10	30					T	47041446	A	T	47041446	3	4	48	1	0	0	0	0	1	0	0	0	10189	333	12	5	3963	5	NBEAL2	3	47041446	Missense_Mutation	SNP	A	TCGA-QR-A70R-01A-11D-A35D-08		47041446	150980984	3	907										
ODAM	54959	broad.mit.edu	37	chr4	71062416	71062416	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	tttttacttttagcttatccCacagcgtctcatgtctgcca	5	12	2	0			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr4:71062416C>G	ENST00000396094.2	+	2	107	c.59C>G	c.(58-60)cCa>cGa	p.P20R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	20					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TAGCTTATCCCACAGCGTCTC	0.333																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(58-60)cCa>cGa		odontogenic, ameloblast asssociated							69	62	64					4																	71062416		1824	4080	5904	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71062416C>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.59C>G	4.37:g.71062416C>G	ENSP00000379401:p.Pro20Arg						p.P20R	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			2	107	+			20					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.59C>G	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428435	0.43122	.	.	ENSG00000109205	ENST00000396094	T	0.53423	0.62	5.39	5.39	0.77823	.	.	.	.	.	T	0.56601	0.1996	L	0.39898	1.24	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.53858	-0.8379	9	0.48119	T	0.1	-3.6559	14.5147	0.67811	0.0:1.0:0.0:0.0	.	20	A1E959	ODAM_HUMAN	R	20	ENSP00000379401:P20R	ENSP00000379401:P20R	P	+	2	0	ODAM	71097005	0.984000	0.35163	0.951000	0.38953	0.210000	0.24377	3.347000	0.52200	2.804000	0.96469	0.650000	0.86243	CCA		0.333	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		9	85	0	0	0	1	0	9	85					G	71062416	C	G	71062416	3	3	48	1	0	0	0	0	1	0	0	0	10824	594	21	5	65	5	ODAM	4	71062416	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		71062416	120091860	4	908										
SUN1	23353	broad.mit.edu	37	chr7	882981	882981	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	ctgtttgaaaactttaggtgGaaataaagctgccattcagg	10	6	1	1			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr7:882981G>T	ENST00000405266.1	+	5	506	c.482G>T	c.(481-483)gGa>gTa	p.G161V	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000457378.2_Missense_Mutation_p.G182V|SUN1_ENST00000425407.2_Missense_Mutation_p.G111V|SUN1_ENST00000401592.1_Missense_Mutation_p.G161V|SUN1_ENST00000403868.1_Missense_Mutation_p.G161V|SUN1_ENST00000389574.3_Missense_Mutation_p.G111V|SUN1_ENST00000456758.2_Missense_Mutation_p.G219V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	161					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTAGGTGGAAATAAAGCT	0.468																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(655-657)gGa>gTa		Sad1 and UNC84 domain containing 1							74	83	80					7																	882981		1932	4113	6045	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:882981G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.482G>T	7.37:g.882981G>T	ENSP00000384116:p.Gly161Val					SUN1_ENST00000457378.2_Missense_Mutation_p.G182V|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Missense_Mutation_p.G161V|SUN1_ENST00000425407.2_Missense_Mutation_p.G111V|SUN1_ENST00000389574.3_Missense_Mutation_p.G111V|SUN1_ENST00000405266.1_Missense_Mutation_p.G161V|SUN1_ENST00000403868.1_Missense_Mutation_p.G161V	p.G219V			O94901	SUN1_HUMAN			8	656	+			161			SYNE2-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.656G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.691605|1.691605	0.30052|0.30052	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000419312|ENST00000456758;ENST00000389574;ENST00000457378;ENST00000435699;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407	.|T;T;T;T;T;T;T;T	.|0.54479	.|2.13;1.56;0.79;0.57;2.14;2.13;0.81;1.56	4.59|4.59	2.66|2.66	0.31614|0.31614	.|.	.|0.648698	.|0.15865	.|N	.|0.240810	.|T	.|0.59878	.|0.2226	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.61697	.|0.825;0.99;0.886;0.484	.|P;P;P;B	.|0.52909	.|0.511;0.713;0.586;0.207	.|T	.|0.55736	.|-0.8094	.|10	.|0.33141	.|T	.|0.24	-10.4919|-10.4919	10.5913|10.5913	0.45310|0.45310	0.0:0.1448:0.7049:0.1503|0.0:0.1448:0.7049:0.1503	.|.	.|161;182;111;161	.|E9PF23;F8WD13;O94901-5;O94901-3	.|.;.;.;.	X|V	2|219;111;182;161;161;161;161;161;111	.|ENSP00000388743:G219V;ENSP00000374225:G111V;ENSP00000395952:G182V;ENSP00000388430:G161V;ENSP00000384116:G161V;ENSP00000384015:G161V;ENSP00000383947:G161V;ENSP00000392309:G111V	.|ENSP00000297445:G161V	E|G	+|+	1|2	0|0	SUN1|SUN1	849507|849507	1.000000|1.000000	0.71417|0.71417	0.638000|0.638000	0.29380|0.29380	0.705000|0.705000	0.40729|0.40729	3.411000|3.411000	0.52672|0.52672	0.421000|0.421000	0.25980|0.25980	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.468	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		11	133	1	0	3.07112e-06	1	3.32704e-06	11	133					T	882981	G	T	882981	3	4	48	1	0	0	0	0	1	0	0	0	15388	1174	41	5	567	5	SUN1	7	882981	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		882981	158255682	5	909										
ING3	54556	broad.mit.edu	37	chr7	120607662	120607662	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	tttaaatctgaagctcttctAtccacccttacgtcagatgc	5	12	4	2			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr7:120607662A>G	ENST00000315870.5	+	7	664	c.516A>G	c.(514-516)ctA>ctG	p.L172L	ING3_ENST00000431467.1_Silent_p.L157L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	172					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AAGCTCTTCTATCCACCCTTA	0.303																																						ENST00000315870.5																			0				NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12						c.(514-516)ctA>ctG		inhibitor of growth family, member 3							78	83	82					7																	120607662		2203	4295	6498	SO:0001819	synonymous_variant	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120607662A>G	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.516A>G	7.37:g.120607662A>G						ING3_ENST00000431467.1_Silent_p.L157L	p.L172L	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN			7	664	+	all_neural(327;0.117)		172					A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Silent	SNP	ENST00000315870.5	37	c.516A>G	CCDS5778.1																																																																																				0.303	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071		51	146	0	0	0	1	0	51	146					G	120607662	A	G	120607662	2	3	48	1	0	0	0	0	0	0	0	1	7737	436	16	4		4	ING3	7	120607662	Silent	SNP	A	TCGA-QR-A70R-01A-11D-A35D-08	119724681	120607662	38531001	6	910										
MGAM	8972	broad.mit.edu	37	chr7	141708443	141708443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	gtaccactcctgtttctgctGaatgtccagtggtaaatgaa	9	9	1	2			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr7:141708443G>T	ENST00000549489.2	+	3	360	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.E89*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	89	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCTGCTGAATGTCCAGT	0.448																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(265-267)Gaa>Taa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						94	92	93					7																	141708443		1887	4105	5992	SO:0001587	stop_gained	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.chr7:141708443G>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.265G>T	7.37:g.141708443G>T	ENSP00000447378:p.Glu89*					MGAM_ENST00000549489.2_Nonsense_Mutation_p.E89*	p.E89*			O43451	MGA_HUMAN			3	319	+	Melanoma(164;0.0272)		89			P-type 1.		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.265G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010148	0.75046	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	.	.	.	4.18	1.37	0.22104	.	2.011330	0.02571	N	0.097759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	6.415	0.21712	0.3133:0.0:0.6867:0.0	.	.	.	.	X	89	.	ENSP00000373973:E89X	E	+	1	0	MGAM	141354912	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.118000	0.15605	0.302000	0.22762	0.655000	0.94253	GAA		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			7	54	1	0	2.52707e-12	1	2.98654e-12	7	54					T	141708443	G	T	141708443	4	4	48	1	0	0	0	0	0	1	0	0	9541	1291	45	5	271	5	MGAM	7	141708443	Nonsense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08	21100781	141708443	17430220	7	911										
FOXD4	2298	broad.mit.edu	37	chr9	117692	117692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	tctgccaggcggggaacttgCggcggtagtaggggaagcgg	20	8	1	0			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr9:117692C>T	ENST00000382500.2	-	1	725	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	143					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGGAACTTGCGGCGGTAGTA	0.642																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(427-429)cGc>cAc		forkhead box D4							41	67	58					9																	117692		2098	4152	6250	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117692C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.428G>A	9.37:g.117692C>T	ENSP00000371940:p.Arg143His						p.R143H	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	725	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	143					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.428G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	16.90	3.250380	0.59212	.	.	ENSG00000170122	ENST00000382500	D	0.95518	-3.73	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.35870	U	0.002935	D	0.91099	0.7198	N	0.03194	-0.395	0.32415	N	0.550161	D	0.76494	0.999	D	0.67725	0.953	D	0.88700	0.3215	10	0.72032	D	0.01	.	3.6941	0.08357	0.0:0.5791:0.2634:0.1575	.	143	Q12950	FOXD4_HUMAN	H	143	ENSP00000371940:R143H	ENSP00000371940:R143H	R	-	2	0	FOXD4	107692	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.898000	0.48672	1.253000	0.44018	0.291000	0.19559	CGC		0.642	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		6	371	0	0	0	1	0	6	371					T	117692	C	T	117692	3	4	48	1	0	0	0	0	1	0	0	0	5999	768	27	1	895	1	FOXD4	9	117692	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		117692	141095739	8	912										
SORCS3	22986	broad.mit.edu	37	chr10	106982994	106982994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	tacctatttctggtggttcgGcaatagcacaaaggtttggc	11	8	1	0			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr10:106982994G>A	ENST00000369701.3	+	20	3082	c.2855G>A	c.(2854-2856)gGc>gAc	p.G952D	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	952					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTGGTTCGGCAATAGCACA	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2854-2856)gGc>gAc		sortilin-related VPS10 domain containing receptor 3							200	193	196					10																	106982994		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106982994G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2855G>A	10.37:g.106982994G>A	ENSP00000358715:p.Gly952Asp					SORCS3_ENST00000369699.4_3'UTR	p.G952D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	20	3082	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	952					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2855G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032574	0.54790	.	.	ENSG00000156395	ENST00000369701	T	0.59906	0.23	5.06	5.06	0.68205	PKD domain (1);	0.329234	0.33040	N	0.005351	T	0.59838	0.2223	M	0.69523	2.12	0.80722	D	1	B	0.27166	0.17	B	0.28465	0.09	T	0.57911	-0.7729	9	.	.	.	.	18.7786	0.91922	0.0:0.0:1.0:0.0	.	952	Q9UPU3	SORC3_HUMAN	D	952	ENSP00000358715:G952D	.	G	+	2	0	SORCS3	106972984	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.087000	0.64480	2.516000	0.84829	0.563000	0.77884	GGC		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		5	196	0	0	0	1	0	5	196					A	106982994	G	A	106982994	3	1	48	1	0	0	0	0	1	0	0	0	14932	1203	42	3	2933	3	SORCS3	10	106982994	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		106982994	28551753	9	913										
HEPN1	641654	broad.mit.edu	37	chr11	124789688	124789688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	attgctccatgggttgatggCgaatcagagctggagtttag	14	6	1	2	rs368280630		TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr11:124789688C>T	ENST00000408930.5	+	1	543	c.42C>T	c.(40-42)ggC>ggT	p.G14G	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	14						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GGGTTGATGGCGAATCAGAGC	0.512																																						ENST00000408930.5																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(40-42)ggC>ggT		hepatocellular carcinoma, down-regulated 1							134	140	138					11																	124789688		2018	4183	6201	SO:0001819	synonymous_variant	641654					cytoplasm		g.chr11:124789688C>T	BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	611641	"HEPACAM opposite strand 1"			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939	ENST00000408930.5:c.42C>T	11.37:g.124789688C>T						HEPACAM_ENST00000298251.4_3'UTR	p.G14G	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	543	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	14						Silent	SNP	ENST00000408930.5	37	c.42C>T	CCDS41729.1																																																																																				0.512	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1	NM_001037558		8	45	0	0	0	1	0	8	45					T	124789688	C	T	124789688	2	4	48	1	0	0	0	0	0	0	0	1	7056	755	27	1		1	HEPN1	11	124789688	Silent	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		124789688	10216828	10	914										
SREBF1	6720	broad.mit.edu	37	chr17	17720609	17720609	+	Frame_Shift_Del	DEL	G	G	-													0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	cacgttgcgcccagggctatGgtagacgctggtggtatctg							TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr17:17720609delG	ENST00000261646.5	-	8	1751	c.1567delC	c.(1567-1569)catfs	p.H523fs	SREBF1_ENST00000395757.1_Frame_Shift_Del_p.H269fs|SREBF1_ENST00000355815.4_Frame_Shift_Del_p.H553fs|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000338854.5_Frame_Shift_Del_p.H523fs	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	523					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCAGGGCTATGGTAGACGCTG	0.677																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(1657-1659)atfs		sterol regulatory element binding transcription factor 1							17	19	18					17																	17720609		2194	4289	6483	SO:0001589	frameshift_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17720609delG	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1567delC	17.37:g.17720609delG	ENSP00000261646:p.His523fs					SREBF1_ENST00000338854.5_Frame_Shift_Del_p.H523fs|SREBF1_ENST00000395757.1_Frame_Shift_Del_p.H269fs|SREBF1_ENST00000261646.5_Frame_Shift_Del_p.H523fs	p.H553fs	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			9	1826	-			523					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Del	DEL	ENST00000261646.5	37	c.1657delC	CCDS11189.1																																																																																				0.677	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		3	3						3	3	---	---	---	---	-	17720609	G	-	17720609	7	5	48	1	0	1	0	1	0	0	0	0	15140	1348	47	0	1924	0	SREBF1	17	17720609	Frame_Shift_Del	DEL	G	TCGA-QR-A70R-01A-11D-A35D-08		17720609	63474601	11	915										
PRKD2	25865	broad.mit.edu	37	chr19	47197153	47197153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	gtggggcgcgtggcctggggCgctgggtgcgtcctgaagga	22	9	0	1			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr19:47197153C>A	ENST00000291281.4	-	10	1780	c.1555G>T	c.(1555-1557)Gcc>Tcc	p.A519S	PRKD2_ENST00000433867.1_Missense_Mutation_p.A519S|PRKD2_ENST00000595515.1_Missense_Mutation_p.A519S|PRKD2_ENST00000600194.1_Missense_Mutation_p.A362S|PRKD2_ENST00000601806.1_Missense_Mutation_p.A362S			Q9BZL6	KPCD2_HUMAN	protein kinase D2	519					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCCTGGGGCGCTGGGTGCG	0.672																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1555-1557)Gcc>Tcc		protein kinase D2							54	58	57					19																	47197153		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197153C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1555G>T	19.37:g.47197153C>A	ENSP00000291281:p.Ala519Ser					PRKD2_ENST00000595515.1_Missense_Mutation_p.A519S|PRKD2_ENST00000600194.1_Missense_Mutation_p.A362S|PRKD2_ENST00000291281.4_Missense_Mutation_p.A519S|PRKD2_ENST00000601806.1_Missense_Mutation_p.A362S	p.A519S	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	11	2032	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	519					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1555G>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	5.637	0.302135	0.10678	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.64991	-0.13;-0.13	5.08	-2.62	0.06152	.	0.150448	0.42548	D	0.000695	T	0.31918	0.0812	N	0.08118	0	0.29016	N	0.886558	B;B	0.15473	0.001;0.013	B;B	0.17979	0.008;0.02	T	0.35549	-0.9784	10	0.07175	T	0.84	-14.5096	11.0448	0.47852	0.0:0.4617:0.0:0.5383	.	519;519	E7ER94;Q9BZL6	.;KPCD2_HUMAN	S	519	ENSP00000291281:A519S;ENSP00000393978:A519S	ENSP00000291281:A519S	A	-	1	0	PRKD2	51888993	0.004000	0.15560	0.472000	0.27241	0.953000	0.61014	0.112000	0.15479	-0.234000	0.09782	0.555000	0.69702	GCC		0.672	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		13	44	1	0	7.93312e-07	1	8.96788e-07	13	44					A	47197153	C	A	47197153	3	1	48	1	0	0	0	0	1	0	0	0	12519	768	27	5	1117	5	PRKD2	19	47197153	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08		47197153	11931830	12	916										
ZNF773	374928	broad.mit.edu	37	chr19	58016080	58016080	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	cttctcccaggaggaatggaGattgcttgatgacgctcaga	12	9	2	4			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr19:58016080G>T	ENST00000282292.4	+	2	229	c.89G>T	c.(88-90)aGa>aTa	p.R30I	ZNF773_ENST00000599847.1_Missense_Mutation_p.R30I|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.R29I|ZNF773_ENST00000598770.1_Missense_Mutation_p.R29I	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGGAATGGAGATTGCTTGAT	0.532																																						ENST00000599847.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(88-90)aGa>aTa		zinc finger protein 773							179	153	162					19																	58016080		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58016080G>T	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.89G>T	19.37:g.58016080G>T	ENSP00000282292:p.Arg30Ile					ZNF773_ENST00000282292.4_Missense_Mutation_p.R30I|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Missense_Mutation_p.R29I|ZNF773_ENST00000598770.1_Missense_Mutation_p.R29I	p.R30I			Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	2	231	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	30			KRAB.		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.89G>T	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095047	0.36952	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.01838	4.61	1.39	0.261	0.15592	Krueppel-associated box (4);	.	.	.	.	T	0.04137	0.0115	L	0.56769	1.78	0.32365	N	0.556623	P;D	0.61080	0.666;0.989	B;P	0.52159	0.22;0.691	T	0.41342	-0.9514	9	0.44086	T	0.13	.	2.954	0.05870	0.1991:0.2917:0.5092:0.0	.	29;30	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	I	53;30	ENSP00000282292:R30I	ENSP00000282292:R30I	R	+	2	0	ZNF773	62707892	0.000000	0.05858	0.222000	0.23844	0.854000	0.48673	-0.485000	0.06520	0.147000	0.19030	0.305000	0.20034	AGA		0.532	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		5	125	1	0	0.184627	1	0.184627	5	125					T	58016080	G	T	58016080	3	4	48	1	0	0	0	0	1	0	0	0	18143	942	33	5	95	5	ZNF773	19	58016080	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08	10818927	58016080	1112903	13	917										
NRSN2	80023	broad.mit.edu	37	chr20	333947	333947	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	ccaagctggagggcatcggtGagggtgagttcctggtgttg	18	7	0	2			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr20:333947G>A	ENST00000382291.3	+	4	523	c.283G>A	c.(283-285)Gag>Aag	p.E95K	NRSN2_ENST00000382285.2_Missense_Mutation_p.E95K|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	95						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GGGCATCGGTGAGGGTGAGTT	0.652																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(283-285)Gag>Aag		neurensin 2							87	82	84					20																	333947		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333947G>A	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.283G>A	20.37:g.333947G>A	ENSP00000371728:p.Glu95Lys					NRSN2_ENST00000382285.2_Missense_Mutation_p.E95K|NRSN2_ENST00000492242.1_3'UTR	p.E95K	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	523	+		all_cancers(10;0.0834)	95					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.283G>A	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348610	0.41599	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.18960	2.18;2.18	4.76	2.76	0.32466	.	0.421310	0.24511	N	0.037885	T	0.17662	0.0424	L	0.56769	1.78	0.09310	N	1	B	0.29037	0.231	B	0.25291	0.059	T	0.16660	-1.0395	10	0.42905	T	0.14	-4.051	5.2707	0.15622	0.1043:0.0:0.6729:0.2228	.	95	Q9GZP1	NRSN2_HUMAN	K	95	ENSP00000371728:E95K;ENSP00000371722:E95K	ENSP00000371722:E95K	E	+	1	0	NRSN2	281947	0.279000	0.24239	0.001000	0.08648	0.979000	0.70002	2.845000	0.48254	0.570000	0.29347	0.643000	0.83706	GAG		0.652	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		4	78	0	0	0	1	0	4	78					A	333947	G	A	333947	3	1	48	1	0	0	0	0	1	0	0	0	10663	1291	45	3	289	3	NRSN2	20	333947	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		333947	62691573	14	918										
KIAA0406	9675	broad.mit.edu	37	chr20	36640810	36640810	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	ggaaatatctcctctggatgCggttccaaggctgtgtggct	13	9	2	0			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr20:36640810C>T	ENST00000373448.2	-	3	1647	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.R470H|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	470					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCTCTGGATGCGGTTCCAAGG	0.463																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1408-1410)cGc>cAc		TELO2 interacting protein 1							63	67	66					20																	36640810		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640810C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1409G>A	20.37:g.36640810C>T	ENSP00000362547:p.Arg470His					TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.R470H|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H	p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1647	-			470					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1409G>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	c	0.557	-0.847090	0.02651	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.68479	-0.33;-0.33;-0.33	5.08	-1.07	0.09968	Armadillo-type fold (1);	1.096590	0.06874	N	0.801308	T	0.50718	0.1632	N	0.25647	0.755	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.34378	-0.9831	10	0.40728	T	0.16	-25.4045	7.537	0.27717	0.0:0.5185:0.1562:0.3253	.	470	O43156	TTI1_HUMAN	H	470	ENSP00000362547:R470H;ENSP00000362546:R470H;ENSP00000407270:R470H	ENSP00000362546:R470H	R	-	2	0	TTI1	36074224	0.001000	0.12720	0.000000	0.03702	0.286000	0.27126	0.351000	0.20096	-0.395000	0.07715	-0.285000	0.09966	CGC		0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		3	63	0	0	0	1	0	3	63					T	36640810	C	T	36640810	3	4	48	1	0	0	0	0	1	0	0	0	8173	768	27	1	1888	1	KIAA0406	20	36640810	Missense_Mutation	SNP	C	TCGA-QR-A70R-01A-11D-A35D-08	36306863	36640810	26384710	15	919										
CRELD2	79174	broad.mit.edu	37	chr22	50316920	50316920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.95906432748538	0	1.07894736842105	1	1	0	ccgagccgcctccctgcagcGctgcgcagttctgtaagaac	11	16	1	1			TCGA-QR-A70R-01A-11D-A35D-08	TCGA-QR-A70R-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf81a264-33bd-46bd-b03c-7c4537ee09e5	98d97958-f30c-438c-8f84-9d556fce7477	g.chr22:50316920G>A	ENST00000328268.4	+	7	801	c.727G>A	c.(727-729)Gct>Act	p.A243T	CRELD2_ENST00000404488.3_Missense_Mutation_p.A292T|CRELD2_ENST00000407217.3_Missense_Mutation_p.A243T|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Intron	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	243						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCTGCAGCGCTGCGCAGTT	0.692																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(874-876)Gct>Act		cysteine-rich with EGF-like domains 2							21	24	23					22																	50316920		2201	4295	6496	SO:0001583	missense	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50316920G>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.727G>A	22.37:g.50316920G>A	ENSP00000332223:p.Ala243Thr					CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Missense_Mutation_p.A243T|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000328268.4_Missense_Mutation_p.A243T	p.A292T	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	8	1009	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	243			EGF-like 2; calcium-binding (Potential).		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	c.874G>A	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629362	0.28978	.	.	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000407217	T;T;D	0.92397	0.62;0.42;-3.03	4.57	-0.118	0.13547	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);	0.757438	0.12278	N	0.483217	T	0.76190	0.3953	N	0.16656	0.425	0.09310	N	0.999999	B;B;P;B;B	0.39094	0.09;0.371;0.659;0.111;0.072	B;B;B;B;B	0.21708	0.005;0.031;0.036;0.004;0.004	T	0.67941	-0.5540	10	0.13470	T	0.59	.	4.5619	0.12165	0.3352:0.0:0.5199:0.145	.	243;292;243;243;243	Q6UXH1-2;Q6UXH1-5;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;CREL2_HUMAN;.	T	292;243;243	ENSP00000383938:A292T;ENSP00000332223:A243T;ENSP00000386034:A243T	ENSP00000332223:A243T	A	+	1	0	CRELD2	48702924	0.822000	0.29219	0.000000	0.03702	0.000000	0.00434	3.180000	0.50895	-0.215000	0.10063	-0.482000	0.04802	GCT		0.692	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		14	26	0	0	0	1	0	14	26					A	50316920	G	A	50316920	3	1	48	1	0	0	0	0	1	0	0	0	3867	1087	38	1	904	1	CRELD2	22	50316920	Missense_Mutation	SNP	G	TCGA-QR-A70R-01A-11D-A35D-08		50316920	987646	16	920										
HTR6	3362	broad.mit.edu	37	chr1	20005098	20005098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaggggtggagtctgctgaCagcaggcgtctagccacgaa	15	11	2	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr1:20005098C>T	ENST00000289753.1	+	2	1220	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	251					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	AGTCTGCTGACAGCAGGCGTC	0.627																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(751-753)gaC>gaT		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						64	62	62					1																	20005098		2203	4300	6503	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005098C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5301	protein-coding gene	gene with protein product		601109	"5-hydroxytryptamine (serotonin) receptor 6"			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.753C>T	1.37:g.20005098C>T							p.D251D	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1220	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	251					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.753C>T	CCDS197.1																																																																																				0.627	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		17	51	0	0	0	1	0	17	51					T	20005098	C	T	20005098	2	4	49	1	0	0	0	0	0	0	0	1	7451	477	17	3		3	HTR6	1	20005098	Silent	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		20005098	229245523	1	921										
HIPK1	204851	broad.mit.edu	37	chr1	114514513	114514513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatctggatgctgtatcacCcccacagggtatcgagctca	9	13	4	0			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr1:114514513C>T	ENST00000369558.1	+	15	3313	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000340480.4_Silent_p.T653T|HIPK1_ENST00000406344.1_Silent_p.T633T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000369559.4_Silent_p.T1027T			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1027	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGTATCACCCCCACAGGGT	0.517																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3079-3081)acC>acT		homeodomain interacting protein kinase 1							135	113	121					1																	114514513		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114514513C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3081C>T	1.37:g.114514513C>T						HIPK1_ENST00000406344.1_Silent_p.T633T|HIPK1_ENST00000369554.2_Silent_p.T982T|HIPK1_ENST00000369555.2_Silent_p.T982T|HIPK1_ENST00000369559.4_Silent_p.T1027T|HIPK1_ENST00000369561.4_Silent_p.T993T|HIPK1_ENST00000426820.2_Silent_p.T1027T|HIPK1_ENST00000369553.1_Silent_p.T633T|HIPK1_ENST00000340480.4_Silent_p.T653T	p.T1027T			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	3313	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1027			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.3081C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	5.004	0.186378	0.09495	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.89	0.746	0.18365	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20240	-1.0281	4	.	.	.	.	4.7972	0.13277	0.2003:0.4609:0.0:0.3388	.	.	.	.	S	308	.	.	P	+	1	0	HIPK1	114316036	0.103000	0.21917	0.999000	0.59377	0.903000	0.53119	-0.889000	0.04144	0.110000	0.17919	-0.251000	0.11542	CCC		0.517	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		41	42	0	0	0	1	0	41	42					T	114514513	C	T	114514513	2	4	49	1	0	0	0	0	0	0	0	1	7116	610	22	3		3	HIPK1	1	114514513	Silent	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	94509415	114514513	134736108	2	922										
CEBPZ	10153	broad.mit.edu	37	chr2	37455268	37455268	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttttagtggttactaatgtAtcatgacttaaagtttctaa	7	4	2	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr2:37455268A>G	ENST00000234170.5	-	2	1213	c.1068T>C	c.(1066-1068)gaT>gaC	p.D356D		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	356					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTACTAATGTATCATGACTTA	0.403																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1066-1068)gaT>gaC		CCAAT/enhancer binding protein (C/EBP), zeta							81	88	85					2																	37455268		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455268A>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1068T>C	2.37:g.37455268A>G							p.D356D	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN			2	1213	-		all_hematologic(82;0.21)	356					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.1068T>C	CCDS1787.1																																																																																				0.403	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		34	90	0	0	0	1	0	34	90					G	37455268	A	G	37455268	2	3	49	1	0	0	0	0	0	0	0	1	3204	446	16	4		4	CEBPZ	2	37455268	Silent	SNP	A	TCGA-QR-A70T-01A-11D-A35D-08		37455268	205744105	3	923										
POLR1A	25885	broad.mit.edu	37	chr2	86308796	86308796	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggattccataccatcatcaTccattcccgaaaaaaggtag	6	11	2	0			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr2:86308796T>A	ENST00000263857.6	-	8	1229	c.851A>T	c.(850-852)gAt>gTt	p.D284V	POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	284					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACCATCATCATCCATTCCCGA	0.403																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(850-852)gAt>gTt		polymerase (RNA) I polypeptide A, 194kDa							103	95	98					2																	86308796		1857	4089	5946	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86308796T>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.851A>T	2.37:g.86308796T>A	ENSP00000263857:p.Asp284Val					POLR1A_ENST00000409681.1_Missense_Mutation_p.D284V	p.D284V			O95602	RPA1_HUMAN			8	1229	-			284					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.851A>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	7.344	0.621519	0.14193	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.69040	-0.37;-0.37	5.18	2.76	0.32466	RNA polymerase Rpb1, domain 1 (1);	0.426269	0.27866	N	0.017531	T	0.53690	0.1812	L	0.39020	1.185	0.39819	D	0.972818	B;B	0.30146	0.27;0.064	B;B	0.33960	0.173;0.077	T	0.44847	-0.9301	10	0.32370	T	0.25	-8.8747	8.0118	0.30357	0.0:0.077:0.4663:0.4567	.	284;284	B9ZVN9;O95602	.;RPA1_HUMAN	V	284	ENSP00000263857:D284V;ENSP00000386300:D284V	ENSP00000263857:D284V	D	-	2	0	POLR1A	86162307	0.990000	0.36364	0.966000	0.40874	0.009000	0.06853	2.068000	0.41471	0.382000	0.24878	0.533000	0.62120	GAT		0.403	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		14	61	0	0	0	1	0	14	61					A	86308796	T	A	86308796	3	1	49	1	0	0	0	0	1	0	0	0	12209	1435	50	5	4419	5	POLR1A	2	86308796	Missense_Mutation	SNP	T	TCGA-QR-A70T-01A-11D-A35D-08	48853528	86308796	156890577	4	924										
MST1	327	broad.mit.edu	37	chr3	49722300	49722300	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcccaaccatacctcatagCccgtgagaggcatatggctg	10	13	1	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr3:49722300C>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.G547V|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACCTCATAGCCCGTGAGAGG	0.582																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1639-1641)gGc>gTc		macrophage stimulating 1 (hepatocyte growth factor-like)							40	41	41					3																	49722300		2201	4293	6494	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49722300C>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722300C>A						AC099668.5_ENST00000563780.1_RNA	p.G547V	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	15	2001	-			533			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1640G>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119922	0.77323	.	.	ENSG00000173531	ENST00000449682	D	0.88354	-2.37	5.5	5.5	0.81552	.	0.000000	0.40818	N	0.001004	D	0.91713	0.7380	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90997	0.4839	10	0.39692	T	0.17	.	17.9501	0.89050	0.0:1.0:0.0:0.0	.	547	G3XAK1	.	V	547	ENSP00000414287:G547V	ENSP00000414287:G547V	G	-	2	0	MST1	49697304	1.000000	0.71417	0.993000	0.49108	0.721000	0.41392	6.545000	0.73883	2.567000	0.86603	0.563000	0.77884	GGC		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	49	1	0	0.0293803	1	0.0304296	4	49					A	49722300	C	A	49722300	1	1	49	0	1	0	0	0	0	0	0	0	9890	739	26	5		5	MST1	3	49722300	IGR	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		49722300	148300130	5	925										
ALPK1	80216	broad.mit.edu	37	chr4	113303581	113303581	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccccagcgagttaaggacccTgatccaggaggcaaaggaaa	12	11	0	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr4:113303581T>A	ENST00000458497.1	+	4	428	c.149T>A	c.(148-150)cTg>cAg	p.L50Q	ALPK1_ENST00000504176.2_Intron|ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	50							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAGGACCCTGATCCAGGAG	0.478																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(148-150)cTg>cAg		alpha-kinase 1							73	67	69					4																	113303581		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113303581T>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.149T>A	4.37:g.113303581T>A	ENSP00000398048:p.Leu50Gln					ALPK1_ENST00000177648.9_Missense_Mutation_p.L50Q|ALPK1_ENST00000504176.2_Intron	p.L50Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	4	428	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	50					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.149T>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331480	0.81690	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000309610	T;T	0.29142	1.58;1.58	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.58119	0.2100	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63355	-0.6656	10	0.87932	D	0	-10.9578	15.839	0.78831	0.0:0.0:0.0:1.0	.	50;50	Q96QP1;B3KUH8	ALPK1_HUMAN;.	Q	50;50;25	ENSP00000398048:L50Q;ENSP00000177648:L50Q	ENSP00000177648:L50Q	L	+	2	0	ALPK1	113523030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.230000	0.78097	2.130000	0.65690	0.533000	0.62120	CTG		0.478	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		3	58	0	0	0	1	0	3	58					A	113303581	T	A	113303581	3	1	49	1	0	0	0	0	1	0	0	0	544	1580	55	5	155	5	ALPK1	4	113303581	Missense_Mutation	SNP	T	TCGA-QR-A70T-01A-11D-A35D-08		113303581	77850695	6	926										
TRRAP	8295	broad.mit.edu	37	chr7	98533274	98533274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataaaagccttccgtcactcGtacctttacgaattgcggca	7	12	1	0	rs140553884		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr7:98533274G>A	ENST00000359863.4	+	28	4296	c.4087G>A	c.(4087-4089)Gta>Ata	p.V1363I	TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I|TRRAP_ENST00000446306.3_Missense_Mutation_p.V1362I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1363					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGTCACTCGTACCTTTACG	0.378													G|||	1	0.000199681	8e-04	0	5008	,	,		18663	0		0	False		,,,				2504	0					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4087-4089)Gta>Ata		transformation/transcription domain-associated protein		G	ILE/VAL	0,4406		0,0,2203	83	76	79		4087	6.2	0.1	7	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRRAP	NM_003496.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1363/3831	98533274	1,13005	2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533274G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4087G>A	7.37:g.98533274G>A	ENSP00000352925:p.Val1363Ile					TRRAP_ENST00000446306.3_Missense_Mutation_p.V1362I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V1363I	p.V1363I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4296	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1363					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4087G>A	CCDS59066.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.614	1.131952	0.21041	0.0	1.16E-4	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03301	3.98;3.98	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.01489	0.0048	N	0.03983	-0.305	0.80722	D	1	B;B;P	0.35050	0.371;0.177;0.482	B;B;B	0.23275	0.045;0.009;0.038	T	0.66312	-0.5955	10	0.17369	T	0.5	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1363;1077;1363	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	1363;1363;1361	ENSP00000352925:V1363I;ENSP00000347733:V1363I	ENSP00000347733:V1363I	V	+	1	0	TRRAP	98371210	1.000000	0.71417	0.132000	0.22025	0.094000	0.18550	9.619000	0.98369	2.941000	0.99782	0.655000	0.94253	GTA		0.378	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	95	0	0	0	1	0	4	95					A	98533274	G	A	98533274	3	1	49	1	0	0	0	0	1	0	0	0	16598	1145	40	1	4193	1	TRRAP	7	98533274	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		98533274	60605389	7	927										
CSPP1	79848	broad.mit.edu	37	chr8	68084697	68084697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tatttgatatggctagacatCggttgcaagctcctgtcaga	10	8	1	3			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr8:68084697C>T	ENST00000262210.5	+	23	2891	c.2860C>T	c.(2860-2862)Cgg>Tgg	p.R954W	CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	989					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGCTAGACATCGGTTGCAAGC	0.388																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2860-2862)Cgg>Tgg		centrosome and spindle pole associated protein 1							88	90	89					8																	68084697		1847	4094	5941	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084697C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2860C>T	8.37:g.68084697C>T	ENSP00000262210:p.Arg954Trp					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R609W	p.R954W	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		23	2891	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	989					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2860C>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054960	0.75960	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.40476	1.03;1.09;1.09	5.81	3.9	0.45041	.	0.078311	0.51477	D	0.000085	T	0.59487	0.2197	M	0.66939	2.045	0.35050	D	0.760524	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.997;0.997	T	0.71371	-0.4613	10	0.87932	D	0	-12.6442	10.2613	0.43427	0.2717:0.5969:0.1314:0.0	.	112;609;954;989	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	W	954;989;609;609	ENSP00000262210:R954W;ENSP00000415782:R609W;ENSP00000430092:R609W	ENSP00000262210:R954W	R	+	1	2	CSPP1	68247251	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.660000	0.46749	1.440000	0.47531	0.655000	0.94253	CGG		0.388	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		4	62	0	0	0	1	0	4	62					T	68084697	C	T	68084697	3	4	49	1	0	0	0	0	1	0	0	0	3962	875	31	2	3063	2	CSPP1	8	68084697	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		68084697	78279325	8	928										
TLE1	7088	broad.mit.edu	37	chr9	84205889	84205889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccaggtcccaaatggacaAagtactggcttcccctccca	8	16	0	0			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr9:84205889A>G	ENST00000376499.3	-	16	2724	c.1660T>C	c.(1660-1662)Ttg>Ctg	p.L554L		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	554					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CAAATGGACAAAGTACTGGCT	0.547																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1660-1662)Ttg>Ctg		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							75	76	76					9																	84205889		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205889A>G		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1660T>C	9.37:g.84205889A>G							p.L554L	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2724	-			554					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1660T>C	CCDS6661.1																																																																																				0.547	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		17	117	0	0	0	1	0	17	117					G	84205889	A	G	84205889	2	3	49	1	0	0	0	0	0	0	0	1	15935	11	1	4		4	TLE1	9	84205889	Silent	SNP	A	TCGA-QR-A70T-01A-11D-A35D-08		84205889	57007542	9	929										
FBP2	8789	broad.mit.edu	37	chr9	97355969	97355969	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ttccataacgtagcgggtcaGggtgagcatgtcggtttcga							TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr9:97355969delG	ENST00000375337.3	-	1	106	c.40delC	c.(40-42)ctgfs	p.L14fs		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	14					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TAGCGGGTCAGGGTGAGCATG	0.552																																						ENST00000375337.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(40-42)tgfs		fructose-1,6-bisphosphatase 2							134	113	120					9																	97355969		2203	4300	6503	SO:0001589	frameshift_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97355969delG	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.40delC	9.37:g.97355969delG	ENSP00000364486:p.Leu14fs						p.L14fs	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN			1	106	-		Acute lymphoblastic leukemia(62;0.136)	14					Q17R39|Q6FI53	Frame_Shift_Del	DEL	ENST00000375337.3	37	c.40delC	CCDS6711.1																																																																																				0.552	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		39	68						39	68	---	---	---	---	-	97355969	G	-	97355969	7	5	49	1	0	1	0	1	0	0	0	0	5706	991	35	0	1007	0	FBP2	9	97355969	Frame_Shift_Del	DEL	G	TCGA-QR-A70T-01A-11D-A35D-08	13150080	97355969	43857462	10	930										
TFAM	7019	broad.mit.edu	37	chr10	60146034	60146034	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggcaagttgtccaaagaaAcctgtaagttcttaccttcg	8	9	1	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:60146034A>G	ENST00000487519.1	+	2	682	c.156A>G	c.(154-156)aaA>aaG	p.K52K	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.K52K	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	52					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)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTCCAAAGAAACCTGTAAGTT	0.363																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(154-156)aaA>aaG		transcription factor A, mitochondrial							154	154	154					10																	60146034		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:60146034A>G	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.156A>G	10.37:g.60146034A>G						TFAM_ENST00000373895.3_Silent_p.K52K|TFAM_ENST00000373899.3_3'UTR	p.K52K	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			2	682	+			52					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Silent	SNP	ENST00000487519.1	37	c.156A>G	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	A	4.255	0.046284	0.08243	.	.	ENSG00000108064	ENST00000395377	.	.	.	5.64	2.51	0.30379	.	.	.	.	.	T	0.53318	0.1789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40701	-0.9549	4	.	.	.	.	5.3886	0.16231	0.5932:0.0:0.4068:0.0	.	.	.	.	A	34	.	.	T	+	1	0	TFAM	59816040	1.000000	0.71417	0.995000	0.50966	0.240000	0.25518	0.429000	0.21412	0.179000	0.19938	0.533000	0.62120	ACC		0.363	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		4	116	0	0	0	1	0	4	116					G	60146034	A	G	60146034	2	3	49	1	0	0	0	0	0	0	0	1	15783	40	2	4		4	TFAM	10	60146034	Silent	SNP	A	TCGA-QR-A70T-01A-11D-A35D-08		60146034	75388713	11	931										
SLC29A3	55315	broad.mit.edu	37	chr10	73111447	73111447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttgcggtcaccattgtctGcatggtgatcctcagcggtg	12	10	3	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr10:73111447G>A	ENST00000373189.5	+	4	564	c.512G>A	c.(511-513)tGc>tAc	p.C171Y	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	171					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						ACCATTGTCTGCATGGTGATC	0.547																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(511-513)tGc>tAc		solute carrier family 29 (equilibrative nucleoside transporter), member 3							182	134	150					10																	73111447		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73111447G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.512G>A	10.37:g.73111447G>A	ENSP00000362285:p.Cys171Tyr					SLC29A3_ENST00000469204.1_3'UTR	p.C171Y	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			4	564	+			171					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.512G>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093047	0.76756	.	.	ENSG00000198246	ENST00000373189	T	0.57107	0.42	5.83	5.83	0.93111	.	0.102753	0.64402	D	0.000002	T	0.74374	0.3708	M	0.80028	2.48	0.44136	D	0.996922	D	0.58970	0.984	D	0.67900	0.954	T	0.76340	-0.2995	9	0.66056	D	0.02	-32.3077	18.2887	0.90122	0.0:0.0:1.0:0.0	.	171	Q9BZD2	S29A3_HUMAN	Y	171	ENSP00000362285:C171Y	ENSP00000362285:C171Y	C	+	2	0	SLC29A3	72781453	1.000000	0.71417	0.987000	0.45799	0.645000	0.38454	7.560000	0.82277	2.764000	0.94973	0.555000	0.69702	TGC		0.547	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		4	81	0	0	0	1	0	4	81					A	73111447	G	A	73111447	3	1	49	1	0	0	0	0	1	0	0	0	14536	1319	46	3	526	3	SLC29A3	10	73111447	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08	12965413	73111447	62423300	12	932										
GANAB	23193	broad.mit.edu	37	chr11	62400986	62400986	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgggtcttttgatccttgCctggaaggtaggagagctgt	15	7	1	2			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:62400986C>G	ENST00000356638.3	-	6	577	c.561G>C	c.(559-561)tcG>tcC	p.S187S	GANAB_ENST00000540933.1_Splice_Site_p.S90S|GANAB_ENST00000534779.1_Splice_Site_p.R95S|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000346178.4_Splice_Site_p.R209S	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	187					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TTGATCCTTGCCTGGAAGGTA	0.607																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.e7-1		glucosidase, alpha; neutral AB							78	73	75					11																	62400986		2202	4299	6501	SO:0001630	splice_region_variant	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400986C>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.561-1G>C	11.37:g.62400986C>G						GANAB_ENST00000540933.1_Splice_Site_p.S90_splice|GANAB_ENST00000356638.3_Splice_Site_p.S187_splice|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Splice_Site_p.R95_splice	p.R209_splice	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			7	642	-			187					A6NC20|Q8WTS9|Q9P0X0	Splice_Site	SNP	ENST00000356638.3	37	c.626_splice	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937973	0.34189	.	.	ENSG00000089597	ENST00000346178;ENST00000534779;ENST00000525994	D;D;T	0.87966	-2.26;-2.32;1.61	5.33	5.33	0.75918	.	0.662303	0.16092	N	0.230028	T	0.77452	0.4132	.	.	.	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.002;0.004	T	0.69335	-0.5172	9	0.10377	T	0.69	.	14.4067	0.67088	0.0:1.0:0.0:0.0	.	95;209	E9PKU7;Q14697-2	.;.	S	209;95;95	ENSP00000340466:R209S;ENSP00000435306:R95S;ENSP00000434805:R95S	ENSP00000340466:R209S	R	-	3	2	GANAB	62157562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.771000	0.95319	0.563000	0.77884	AGG		0.607	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	Silent	18	35	0	0	0	1	0	18	35					G	62400986	C	G	62400986	5	3	49	1	0	0	0	0	0	0	1	0	6233	753	26	5	2349	5	GANAB	11	62400986	Splice_Site	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08		62400986	72605530	13	933										
RIN1	9610	broad.mit.edu	37	chr11	66102456	66102456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctggctggggactgcccCtggcagcacggggacggggg	20	11	1	0	rs201610229		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:66102456C>T	ENST00000311320.4	-	6	940	c.814G>A	c.(814-816)Ggg>Agg	p.G272R	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R|RIN1_ENST00000530056.1_Missense_Mutation_p.G167R|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	272					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGGACTGCCCCTGGCAGCACG	0.667													C|||	1	0.000199681	0	0	5008	,	,		15096	0		0.001	False		,,,				2504	0					ENST00000311320.4																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						c.(814-816)Ggg>Agg		Ras and Rab interactor 1		C	ARG/GLY	0,4396		0,0,2198	23	22	22		814	2.3	0.7	11		22	8,8572		0,8,4282	no	missense	RIN1	NM_004292.2	125	0,8,6480	TT,TC,CC		0.0932,0.0,0.0617	benign	272/784	66102456	8,12968	2198	4290	6488	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102456C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.814G>A	11.37:g.66102456C>T	ENSP00000310406:p.Gly272Arg					RIN1_ENST00000530056.1_Missense_Mutation_p.G167R|RIN1_ENST00000424433.2_Missense_Mutation_p.G167R|RP11-867G23.12_ENST00000526655.1_RNA	p.G272R	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN			6	940	-			272					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.814G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861481	0.17178	0.0	9.32E-4	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.13420	3.11;2.98;2.59	4.26	2.26	0.28386	.	0.917458	0.09005	N	0.862443	T	0.10809	0.0264	N	0.22421	0.69	0.09310	N	1	B;B	0.22541	0.071;0.005	B;B	0.22386	0.039;0.005	T	0.36065	-0.9763	10	0.41790	T	0.15	-10.8817	10.5604	0.45142	0.0:0.6178:0.3822:0.0	.	167;272	E9PNR2;Q13671	.;RIN1_HUMAN	R	272;167;167	ENSP00000310406:G272R;ENSP00000400560:G167R;ENSP00000432798:G167R	ENSP00000310406:G272R	G	-	1	0	RIN1	65859032	0.002000	0.14202	0.663000	0.29738	0.318000	0.28184	0.335000	0.19806	0.326000	0.23384	0.462000	0.41574	GGG		0.667	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292		5	37	0	0	0	1	0	5	37					T	66102456	C	T	66102456	3	4	49	1	0	0	0	0	1	0	0	0	13371	681	24	3	1557	3	RIN1	11	66102456	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	3701470	66102456	68904060	14	934										
ANKK1	255239	broad.mit.edu	37	chr11	113266945	113266945	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagaggccatgctttctagGtgcttatccagtgcccccta	10	12	1	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr11:113266945G>T	ENST00000303941.3	+	5	932		c.e5+1			NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGCTTTCTAGGTGCTTATCCA	0.612																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.e5+1		ankyrin repeat and kinase domain containing 1							76	80	79					11																	113266945		1938	4118	6056	SO:0001630	splice_region_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266945G>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.838+1G>T	11.37:g.113266945G>T								NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	932	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)							Splice_Site	SNP	ENST00000303941.3	37		CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826964	0.50739	.	.	ENSG00000170209	ENST00000303941	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2135	0.82186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKK1	112772155	1.000000	0.71417	0.449000	0.26957	0.025000	0.11179	9.278000	0.95766	2.285000	0.76669	0.462000	0.41574	.		0.612	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	Intron	4	105	1	0	0.150653	1	0.150653	4	105					T	113266945	G	T	113266945	5	4	49	1	0	0	0	0	0	0	1	0	631	1275	44	5	857	5	ANKK1	11	113266945	Splice_Site	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08	47164489	113266945	21739571	15	935										
C1S	716	broad.mit.edu	37	chr12	7172601	7172601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaactgccttgacagtttaGttgtgcgtgatggttgatta	12	5	0	3			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:7172601G>A	ENST00000406697.1	+	9	1343	c.715G>A	c.(715-717)Gtt>Att	p.V239I	C1S_ENST00000328916.3_Missense_Mutation_p.V239I|C1S_ENST00000402681.3_Missense_Mutation_p.V72I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I			P09871	C1S_HUMAN	complement component 1, s subcomponent	239	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.V239F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGACAGTTTAGTTGTGCGTGA	0.453																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			1	Substitution - Missense(1)	p.V239F(1)	endometrium(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(715-717)Gtt>Att		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						100	100	100					12																	7172601		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172601G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"Complement system"	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.715G>A	12.37:g.7172601G>A	ENSP00000385035:p.Val239Ile					C1S_ENST00000328916.3_Missense_Mutation_p.V239I|C1S_ENST00000360817.5_Missense_Mutation_p.V239I|C1S_ENST00000402681.3_Missense_Mutation_p.V72I	p.V239I			P09871	C1S_HUMAN			9	1343	+			239			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.715G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998065	0.35226	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.83	-4.78	0.03209	CUB (5);	2.071210	0.02388	N	0.079421	T	0.12433	0.0302	N	0.25332	0.735	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36383	-0.9750	10	0.45353	T	0.12	.	8.9678	0.35887	0.6102:0.2241:0.1657:0.0	.	239	P09871	C1S_HUMAN	I	239;239;239;72;72	ENSP00000385035:V239I;ENSP00000328173:V239I;ENSP00000354057:V239I;ENSP00000384171:V72I;ENSP00000442298:V72I	ENSP00000328173:V239I	V	+	1	0	C1S	7042862	0.000000	0.05858	0.112000	0.21494	0.781000	0.44180	-0.770000	0.04705	-0.643000	0.05473	0.655000	0.94253	GTT		0.453	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		10	19	0	0	0	1	0	10	19					A	7172601	G	A	7172601	3	1	49	1	0	0	0	0	1	0	0	0	1974	1029	36	3	733	3	C1S	12	7172601	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		7172601	126679294	16	936										
LRP6	4040	broad.mit.edu	37	chr12	12301949	12301949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caccactccaactgatctccCatctaatcttgtcacattaa	2	15	4	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:12301949C>G	ENST00000261349.4	-	14	3209	c.3133G>C	c.(3133-3135)Ggg>Cgg	p.G1045R	LRP6_ENST00000543091.1_Missense_Mutation_p.G1045R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1045	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACTGATCTCCCATCTAATCTT	0.463																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3133-3135)Ggg>Cgg		low density lipoprotein receptor-related protein 6							264	246	252					12																	12301949		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12301949C>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3133G>C	12.37:g.12301949C>G	ENSP00000261349:p.Gly1045Arg					LRP6_ENST00000543091.1_Missense_Mutation_p.G1045R	p.G1045R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3209	-		Prostate(47;0.0865)	1045			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3133G>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097020	0.94197	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93307	-3.2;-3.2	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000011	D	0.96941	0.9001	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.969	D	0.96911	0.9667	10	0.66056	D	0.02	.	19.8604	0.96781	0.0:1.0:0.0:0.0	.	1045;1045	F5H7J9;O75581	.;LRP6_HUMAN	R	1045	ENSP00000261349:G1045R;ENSP00000442472:G1045R	ENSP00000261349:G1045R	G	-	1	0	LRP6	12193216	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.487000	0.81328	2.699000	0.92147	0.650000	0.86243	GGG		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			74	97	0	0	0	1	0	74	97					G	12301949	C	G	12301949	3	3	49	1	0	0	0	0	1	0	0	0	8962	594	21	5	1748	5	LRP6	12	12301949	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	5129348	12301949	121549946	17	937										
GALNT4	8693	broad.mit.edu	37	chr12	89917393	89917393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttgctgacagcaaacagtcCtccagccatggtaggtgatc	10	12	0	2			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr12:89917393C>T	ENST00000529983.2	-	1	1190	c.934G>A	c.(934-936)Gga>Aga	p.G312R	POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.G140R|POC1B_ENST00000549504.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G309R|POC1B_ENST00000313546.3_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	312	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GCAAACAGTCCTCCAGCCATG	0.468																																						ENST00000548729.1																			0											c.(925-927)Gga>Aga									130	130	130					12																	89917393		1967	4156	6123	SO:0001583	missense	100528030							g.chr12:89917393C>T	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4126	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 4"	603565	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.934G>A	12.37:g.89917393C>T	ENSP00000436604:p.Gly312Arg					POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G312R|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.G140R	p.G309R	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1227	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.925G>A	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788616	0.90367	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.90844	0.12;-2.74;0.12	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	.	.	.	.	D	0.97040	0.9033	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97679	1.0171	9	0.87932	D	0	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	309;312	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	R	309;140;312	ENSP00000447852:G309R;ENSP00000389686:G140R;ENSP00000436604:G312R	ENSP00000436604:G312R	G	-	1	0	GALNT4;RP11-1109F11.4	88441524	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.760000	0.85248	2.768000	0.95171	0.655000	0.94253	GGA		0.468	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		8	125	0	0	0	1	0	8	125					T	89917393	C	T	89917393	3	4	49	1	0	0	0	0	1	0	0	0	6215	690	24	3	806	3	GALNT4	12	89917393	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	77615444	89917393	43934502	18	938										
FMN1	342184	broad.mit.edu	37	chr15	33358928	33358928	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctcaccaccctgggtttgTggtactccagggccgctctg	11	15	2	0			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr15:33358928T>C	ENST00000559047.1	-	3	2043				FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Silent_p.P386P|FMN1_ENST00000558197.1_Silent_p.P386P|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTGGGTTTGTGGTACTCCAG	0.592																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1156-1158)ccA>ccG		formin 1							70	72	71					15																	33358928		2031	4191	6222	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33358928T>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1653A>G	15.37:g.33358928T>C						FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Silent_p.P386P	p.P386P	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1157	-		all_lung(180;1.14e-07)	483			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1158A>G																																																																																					0.592	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		47	57	0	0	0	1	0	47	57					C	33358928	T	C	33358928	1	2	49	0	1	0	0	0	0	0	0	0	5949	1683	59	4		4	FMN1	15	33358928	Intron	SNP	T	TCGA-QR-A70T-01A-11D-A35D-08		33358928	69172464	19	939										
MUC16	94025	broad.mit.edu	37	chr19	9009599	9009599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcactaaccagaccctgcaGgaccctctctgtggtgttga	11	13	1	2			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr19:9009599G>A	ENST00000397910.4	-	39	39330	c.39127C>T	c.(39127-39129)Ctg>Ttg	p.L13043L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13045	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACCCTGCAGGACCCTCTCT	0.552																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39127-39129)Ctg>Ttg		mucin 16, cell surface associated							188	157	167					19																	9009599		2008	4171	6179	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009599G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39127C>T	19.37:g.9009599G>A							p.L13043L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39330	-			13045			SEA 7.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39127C>T	CCDS54212.1																																																																																				0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	149	0	0	0	1	0	12	149					A	9009599	G	A	9009599	2	1	49	1	0	0	0	0	0	0	0	1	9973	991	35	3		3	MUC16	19	9009599	Silent	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		9009599	50119384	20	940										
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993755	45993769	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-													0	0	1	0	0	0	1	1	0	gagagctgctgcgagcccccCtgctgcgcccccagctgctg					rs374679248|rs371402039|rs587770741|rs199944478	byFrequency	TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr21:45993755_45993769delCTGCTGCGCCCCCAG	ENST00000400374.3	+	1	150_164	c.120_134delCTGCTGCGCCCCCAG	c.(118-135)ccctgctgcgcccccagc>ccc	p.CCAPS41del	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	41	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(118-135)ccc>cc		keratin associated protein 10-4			,	484,3132		52,380,1376					,	-1.3	0.6			35	26,7806		0,26,3890	no	coding,intron	TSPEAR,KRTAP10-4	NM_198687.1,NM_144991.2	,	52,406,5266	A1A1,A1R,RR		0.332,13.385,4.4549	,	,		510,10938				SO:0001651	inframe_deletion	386672					keratin filament		g.chr21:45993755_45993769delCTGCTGCGCCCCCAG	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.120_134delCTGCTGCGCCCCCAG	21.37:g.45993755_45993769delCTGCTGCGCCCCCAG	ENSP00000383225:p.Cys41_Ser45del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS40del	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	150_164	+			40			36 X 5 AA repeats of C-C-X(3).		Q08AS0	In_Frame_Del	DEL	ENST00000400374.3	37	c.120_134delCTGCTGCGCCCCCAG	CCDS42957.1																																																																																				0.698	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		9	18						9	18	---	---	---	---	-	45993769	CTGCTGCGCCCCCAG	-	45993755	7	5	49	1	0	1	0	1	0	0	0	0	8511	668	24	0	122	0	KRTAP10-4	21	45993755	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	TCGA-QR-A70T-01A-11D-A35D-08		45993755	2136140	21	941										
DIP2A	23181	broad.mit.edu	37	chr21	47918530	47918530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagaagatgagggctctttaCggcgacccgggcgactcacc	13	13	2	3	rs370736191		TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chr21:47918530C>T	ENST00000417564.2	+	5	460	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R147W|DIP2A_ENST00000318711.7_Missense_Mutation_p.R147W|DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	147					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R147R(2)|p.R83R(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGGCTCTTTACGGCGACCCGG	0.587																																						ENST00000318711.7																			3	Substitution - coding silent(3)	p.R147R(2)|p.R83R(1)	urinary_tract(3)	cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(439-441)Cgg>Tgg		DIP2 disco-interacting protein 2 homolog A (Drosophila)		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4262		0,0,2131	136	152	147		247,439,439,439,439,439,439	3.6	1	21		147	1,8471		0,1,4235	no	missense,missense,missense,missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2	101,101,101,101,101,101,101	0,1,6366	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	83/1111,147/799,147/1568,147/1572,147/890,147/842,147/813	47918530	1,12733	2131	4236	6367	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918530C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.439C>T	21.37:g.47918530C>T	ENSP00000392066:p.Arg147Trp					DIP2A_ENST00000466639.1_Missense_Mutation_p.R147W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R147W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R147W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R83W|DIP2A_ENST00000417564.2_Missense_Mutation_p.R147W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R147W	p.R147W	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	622	+	Breast(49;0.0933)		147					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.439C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459437	0.63401	0.0	1.18E-4	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.25912	1.84;1.78;1.84;1.82;1.77;1.83;1.84	5.4	3.6	0.41247	.	0.144354	0.47455	D	0.000239	T	0.30070	0.0753	M	0.71581	2.175	0.54753	D	0.999985	B;B;B;B;B;B	0.15141	0.004;0.006;0.007;0.002;0.012;0.005	B;B;B;B;B;B	0.20767	0.001;0.006;0.005;0.001;0.031;0.013	T	0.10382	-1.0632	10	0.72032	D	0.01	-7.8351	11.8016	0.52130	0.0:0.8722:0.0:0.1278	.	147;83;147;147;147;147	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	W	147;83;147;147;147;147;147;147	ENSP00000383133:R147W;ENSP00000400528:R83W;ENSP00000323633:R147W;ENSP00000393434:R147W;ENSP00000430249:R147W;ENSP00000415089:R147W;ENSP00000392066:R147W	ENSP00000323633:R147W	R	+	1	2	DIP2A	46742958	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.875000	0.56108	0.653000	0.30826	0.555000	0.69702	CGG		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		4	153	0	0	0	1	0	4	153					T	47918530	C	T	47918530	3	4	49	1	0	0	0	0	1	0	0	0	4527	527	19	1	457	1	DIP2A	21	47918530	Missense_Mutation	SNP	C	TCGA-QR-A70T-01A-11D-A35D-08	1924775	47918530	211365	22	942										
AWAT1	158833	broad.mit.edu	37	chrX	69457054	69457054	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacttggccacgctgtcctGgttcttcaagatcccctttg	8	14	3	1			TCGA-QR-A70T-01A-11D-A35D-08	TCGA-QR-A70T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7c81c93-90ef-4266-9fc0-d5ff6416b139	5683aefc-0242-47e7-a2ca-9fdfa234f0f3	g.chrX:69457054G>C	ENST00000374521.3	+	4	457	c.416G>C	c.(415-417)tGg>tCg	p.W139S	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	139					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACGCTGTCCTGGTTCTTCAAG	0.537																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(415-417)tGg>tCg		acyl-CoA wax alcohol acyltransferase 1							72	57	62					X																	69457054		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69457054G>C	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.416G>C	X.37:g.69457054G>C	ENSP00000363645:p.Trp139Ser					AWAT1_ENST00000480702.1_3'UTR	p.W139S	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			4	457	+			139					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.416G>C	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660230	0.29515	.	.	ENSG00000204195	ENST00000374521	T	0.12361	2.69	4.5	4.5	0.54988	.	0.093223	0.44902	D	0.000414	T	0.11965	0.0291	N	0.03209	-0.39	0.52501	D	0.999953	P	0.47841	0.901	P	0.55055	0.767	T	0.42916	-0.9423	10	0.19590	T	0.45	-5.9742	14.9796	0.71301	0.0:0.0:1.0:0.0	.	139	Q58HT5	AWAT1_HUMAN	S	139	ENSP00000363645:W139S	ENSP00000363645:W139S	W	+	2	0	AWAT1	69373779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.481000	0.53179	2.086000	0.62901	0.456000	0.33151	TGG		0.537	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		3	16	0	0	0	1	0	3	16					C	69457054	G	C	69457054	3	2	49	1	0	0	0	0	1	0	0	0	1234	1357	47	5	430	5	AWAT1	23	69457054	Missense_Mutation	SNP	G	TCGA-QR-A70T-01A-11D-A35D-08		69457054	85813506	23	943										
NBPF10	100132406	broad.mit.edu	37	chr1	145296440	145296440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaagggagagatgcctcccGctcattgtatgagcatctcc	12	11	2	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr1:145296440G>A	ENST00000342960.5	+	3	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	121						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.R121H(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(361-363)cGc>cAc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296440G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.362G>A	1.37:g.145296440G>A	ENSP00000345684:p.Arg121His					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R121H	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	397	+	all_hematologic(923;0.032)		121					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.362G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.583	-0.836154	0.02713	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02837	4.14	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00384	0.0012	N	0.17474	0.49	0.09310	N	1	.	.	.	.	.	.	T	0.41288	-0.9517	7	0.15952	T	0.53	.	2.435	0.04480	0.3331:0.0:0.2034:0.4635	.	.	.	.	H	121;46;121	ENSP00000345684:R121H	ENSP00000345684:R121H	R	+	2	0	NBPF10	144007797	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.405000	0.01045	-3.091000	0.00247	-1.767000	0.00664	CGC		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	398	0	0	0	1	0	6	398					A	145296440	G	A	145296440	3	1	50	1	0	0	0	0	1	0	0	0	10193	1087	38	1	372	1	NBPF10	1	145296440	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		145296440	103954181	1	944										
GBA	2629	broad.mit.edu	37	chr1	155207977	155207977	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgtctccgggctgtccctTgagtgaccccttcccattca	9	15	2	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr1:155207977T>G	ENST00000327247.5	-	7	941	c.709A>C	c.(709-711)Aag>Cag	p.K237Q	GBA_ENST00000427500.3_Missense_Mutation_p.K188Q|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Missense_Mutation_p.K150Q|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q|GBA_ENST00000536770.1_Missense_Mutation_p.K124Q	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	237			K -> E (in GD; severe; loss of activity; increases susceptibility to proteolytic degradation). {ECO:0000269|PubMed:11933202}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGCTGTCCCTTGAGTGACCCC	0.577									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CM020712	GBA	M		c.(448-450)Aag>Cag		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						109	92	98					1																	155207977		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155207977T>G	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.709A>C	1.37:g.155207977T>G	ENSP00000314508:p.Lys237Gln					GBA_ENST00000327247.5_Missense_Mutation_p.K237Q|GBA_ENST00000427500.2_Missense_Mutation_p.K188Q|GBA_ENST00000368373.3_Missense_Mutation_p.K237Q|GBA_ENST00000536770.1_Missense_Mutation_p.K124Q	p.K150Q	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	950	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		237					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.448A>C	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	12.43	1.934514	0.34189	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99232	-5.6;-5.6;-5.6;-5.6;-5.6	3.66	3.66	0.41972	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.072863	0.52532	D	0.000080	D	0.98667	0.9553	M	0.82923	2.615	0.50813	D	0.999895	P;P;P	0.51933	0.949;0.616;0.667	P;B;B	0.54431	0.752;0.097;0.22	D	0.98338	1.0537	10	0.34782	T	0.22	.	8.8757	0.35343	0.0:0.0:0.0:1.0	.	188;124;237	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	Q	188;150;237;237;124;194;222	ENSP00000402577:K188Q;ENSP00000397986:K150Q;ENSP00000357357:K237Q;ENSP00000314508:K237Q;ENSP00000445560:K124Q	ENSP00000314508:K237Q	K	-	1	0	GBA	153474601	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	7.134000	0.77268	1.663000	0.50791	0.248000	0.18094	AAG		0.577	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		14	27	0	0	0	1	0	14	27					G	155207977	T	G	155207977	3	3	50	1	0	0	0	0	1	0	0	0	6266	1821	63	5	925	5	GBA	1	155207977	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	9911537	155207977	94042644	2	945										
THADA	63892	broad.mit.edu	37	chr2	43799001	43799001	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctaatgtatctatccttaCctaaaaaacatcaagcaata	3	10	2	0	rs571141794		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:43799001C>T	ENST00000405006.4	-	13	2260	c.1909G>A	c.(1909-1911)Gta>Ata	p.V637I	THADA_ENST00000403856.1_Splice_Site_p.V637I|THADA_ENST00000402360.2_Splice_Site_p.V637I|THADA_ENST00000404790.1_Splice_Site_p.V637I|THADA_ENST00000415080.2_Splice_Site_p.V347I|THADA_ENST00000330266.7_Splice_Site_p.V347I|THADA_ENST00000405975.2_Splice_Site_p.V637I	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	637										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTATCCTTACCTAAAAAACA	0.318													C|||	1	0.000199681	0	0	5008	,	,		19503	0		0	False		,,,				2504	0.001					ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.e14-1		thyroid adenoma associated							99	99	99					2																	43799001		1835	4088	5923	SO:0001630	splice_region_variant	63892						binding	g.chr2:43799001C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1909-1G>A	2.37:g.43799001C>T						THADA_ENST00000415080.2_Splice_Site_p.V347_splice|THADA_ENST00000402360.2_Splice_Site_p.V637_splice|THADA_ENST00000405975.2_Splice_Site_p.V637_splice|THADA_ENST00000330266.7_Splice_Site_p.V347_splice|THADA_ENST00000405006.4_Splice_Site_p.V637_splice|THADA_ENST00000404790.1_Splice_Site_p.V637_splice	p.V637_splice			Q6YHU6	THADA_HUMAN			14	2056	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	637					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	ENST00000405006.4	37	c.1908_splice	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064687	0.55432	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.44;1.43;1.23	5.16	4.29	0.51040	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.58424	0.2121	M	0.73598	2.24	0.46954	D	0.999265	B;D;D;D;D	0.76494	0.075;0.999;0.991;0.983;0.999	B;D;D;P;D	0.80764	0.074;0.994;0.926;0.776;0.987	T	0.59418	-0.7458	10	0.37606	T	0.19	-5.2672	14.2286	0.65875	0.0:0.9277:0.0:0.0723	.	637;637;637;347;637	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	I	347;637;637;347;637;637;637;637	ENSP00000331105:V347I;ENSP00000386088:V637I;ENSP00000416048:V347I;ENSP00000385995:V637I;ENSP00000385441:V637I;ENSP00000384266:V637I;ENSP00000385469:V637I	ENSP00000331105:V347I	V	-	1	0	THADA	43652505	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	5.635000	0.67841	1.322000	0.45245	-0.186000	0.12905	GTA		0.318	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	Missense_Mutation	5	97	0	0	0	1	0	5	97					T	43799001	C	T	43799001	5	4	50	1	0	0	0	0	0	0	1	0	15837	521	18	3	4056	3	THADA	2	43799001	Splice_Site	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		43799001	199400372	3	946										
AUP1	165545	broad.mit.edu	37	chr2	74754875	74754875	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacatacctgactgggggcGcaatctggggtgtctttgtc	13	11	2	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr2:74754875G>A	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R277C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GACTGGGGGCGCAATCTGGGG	0.512																																						ENST00000377526.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(829-831)Cgc>Tgc		ancient ubiquitous protein 1							156	170	166					2																	74754875		1998	4164	6162	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754875G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754875G>A	Exception_encountered						p.R277C	NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN			8	1138	-			343					Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.829C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		4	194	0	0	0	1	0	4	194					A	74754875	G	A	74754875	1	1	50	0	1	0	0	0	0	0	0	0	1220	1087	38	1		1	AUP1	2	74754875	5'Flank	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	30955874	74754875	168444498	4	947										
TATDN2	9797	broad.mit.edu	37	chr3	10302293	10302293	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaccgaaggactgtcattgAcaaatgctctccacccctag	9	13	2	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:10302293A>C	ENST00000287652.4	+	3	1938	c.887A>C	c.(886-888)gAc>gCc	p.D296A	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	296					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACTGTCATTGACAAATGCTCT	0.473																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(886-888)gAc>gCc		TatD DNase domain containing 2							87	89	89					3																	10302293		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10302293A>C	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.887A>C	3.37:g.10302293A>C	ENSP00000287652:p.Asp296Ala					TATDN2_ENST00000448281.2_Missense_Mutation_p.D296A|RP11-438J1.1_ENST00000450534.1_3'UTR	p.D296A	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			3	1938	+			296					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.887A>C	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102026	0.37048	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.24908	1.83;1.83	5.15	5.15	0.70609	.	0.961376	0.08478	N	0.939991	T	0.23014	0.0556	L	0.44542	1.39	0.09310	N	0.999999	P	0.38922	0.651	B	0.30943	0.122	T	0.17592	-1.0364	10	0.72032	D	0.01	-10.5292	11.5386	0.50653	1.0:0.0:0.0:0.0	.	296	Q93075	TATD2_HUMAN	A	296	ENSP00000287652:D296A;ENSP00000408736:D296A	ENSP00000287652:D296A	D	+	2	0	TATDN2	10277293	0.408000	0.25360	0.037000	0.18230	0.538000	0.34931	2.011000	0.40922	2.288000	0.76882	0.533000	0.62120	GAC		0.473	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		4	134	0	0	0	1	0	4	134					C	10302293	A	C	10302293	3	2	50	1	0	0	0	0	1	0	0	0	15589	275	10	5	893	5	TATDN2	3	10302293	Missense_Mutation	SNP	A	TCGA-QR-A70U-01A-11D-A35D-08		10302293	187720137	5	948										
ZNF35	7584	broad.mit.edu	37	chr3	44692675	44692675	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcatccagccaacaagtgcActccgagaacatcaaagtct	8	13	2	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:44692675A>T	ENST00000396056.2	+	2	351	c.116A>T	c.(115-117)cAc>cTc	p.H39L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000453164.1_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|ZNF35_ENST00000542250.1_5'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	39	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CAACAAGTGCACTCCGAGAAC	0.542																																						ENST00000396056.2																			0				large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(115-117)cAc>cTc		zinc finger protein 35							70	69	69					3																	44692675		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44692675A>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"Zinc fingers, C2H2-type"	13099	protein-coding gene	gene with protein product		194533	"zinc finger protein 35 (clone HF.10)"			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.116A>T	3.37:g.44692675A>T	ENSP00000379368:p.His39Leu					RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_5'UTR|ZNF35_ENST00000296092.3_Missense_Mutation_p.H39L|ZNF35_ENST00000399560.2_Missense_Mutation_p.H39L|ZNF35_ENST00000453164.1_Missense_Mutation_p.H39L	p.H39L	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	2	351	+		Ovarian(412;0.0228)	39			Globular domain.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.116A>T	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	A	13.06	2.122953	0.37436	.	.	ENSG00000169981	ENST00000396056;ENST00000415571;ENST00000432115;ENST00000296092;ENST00000399560;ENST00000453164	T	0.09073	3.02	3.7	-4.21	0.03812	.	1.255730	0.05811	N	0.614052	T	0.04724	0.0128	N	0.24115	0.695	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.42965	-0.9420	10	0.54805	T	0.06	1.9234	0.9277	0.01328	0.2582:0.3308:0.2487:0.1623	.	39	P13682	ZNF35_HUMAN	L	39	ENSP00000379368:H39L	ENSP00000296092:H39L	H	+	2	0	ZNF35	44667679	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-0.614000	0.05604	-0.762000	0.04664	-0.471000	0.05019	CAC		0.542	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		8	106	0	0	0	1	0	8	106					T	44692675	A	T	44692675	3	4	50	1	0	0	0	0	1	0	0	0	17859	159	6	5	118	5	ZNF35	3	44692675	Missense_Mutation	SNP	A	TCGA-QR-A70U-01A-11D-A35D-08	34390382	44692675	153329755	6	949										
ROBO2	6092	broad.mit.edu	37	chr3	77614243	77614243	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaggtctcagtgacccaagTcccatgtcagatcctgtgcg	10	13	2	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr3:77614243T>G	ENST00000461745.1	+	12	2721	c.1821T>G	c.(1819-1821)agT>agG	p.S607R	ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R|ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	607	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGACCCAAGTCCCATGTCAG	0.468																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1819-1821)agT>agG		roundabout, axon guidance receptor, homolog 2 (Drosophila)							136	135	135					3																	77614243		1986	4162	6148	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614243T>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1821T>G	3.37:g.77614243T>G	ENSP00000417164:p.Ser607Arg					ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R|ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R	p.S607R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2721	+			607			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1821T>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377706	0.61735	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.70749	-0.51;-0.51;-0.51	6.02	-1.74	0.08056	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000047	D	0.87281	0.6138	H	0.97265	3.97	0.49130	D	0.999755	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88407	0.3019	9	0.87932	D	0	.	11.5634	0.50792	0.0:0.4115:0.0:0.5885	.	623;607;607	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	623;623;627;607;607;328	ENSP00000417335:S623R;ENSP00000417164:S607R;ENSP00000327536:S607R	ENSP00000327536:S607R	S	+	3	2	ROBO2	77696933	0.031000	0.19500	0.581000	0.28614	0.908000	0.53690	-0.607000	0.05648	-0.717000	0.04955	-0.248000	0.11899	AGT		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		27	68	0	0	0	1	0	27	68					G	77614243	T	G	77614243	3	3	50	1	0	0	0	0	1	0	0	0	13514	1664	58	5	1869	5	ROBO2	3	77614243	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	32921568	77614243	120408187	7	950										
PCDH18	54510	broad.mit.edu	37	chr4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatttctgccgtattattaCgcaatgcaggccctataacc	7	11	1	1	rs200753356	byFrequency	TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463													C|||	4	0.000798722	0	0.0029	5008	,	,		22925	0		0	False		,,,				2504	0.002					ENST00000344876.4																			2	Substitution - Missense(2)	p.R582H(2)	breast(1)|pancreas(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1744-1746)cGt>cAt		protocadherin 18		C	HIS/ARG	0,4406		0,0,2203	207	193	197		1745	4.1	0.1	4		197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCDH18	NM_019035.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	582/1136	138451498	1,13005	2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451498C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1745G>A	4.37:g.138451498C>T	ENSP00000355082:p.Arg582His					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron	p.R582H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	2131	-	all_hematologic(180;0.24)		582			Cadherin 6.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1745G>A	CCDS34064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		6	237	0	0	0	1	0	6	237					T	138451498	C	T	138451498	3	4	50	1	0	0	0	0	1	0	0	0	11513	536	19	1	1678	1	PCDH18	4	138451498	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		138451498	52702778	8	951										
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtggtggagggggagggggTgggggtagggagtatggtaa	26	0	0	0			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:164050124T>C	ENST00000274054.2	-	8	1603	c.1410A>G	c.(1408-1410)ccA>ccG	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccG		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1410A>G	4.37:g.164050124T>C						NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>G	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		11	15	0	0	0	1	0	11	15					C	164050124	T	C	164050124	2	2	50	1	0	0	0	0	0	0	0	1	10140	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	25598626	164050124	27104152	9	952										
CASP3	836	broad.mit.edu	37	chr4	185553476	185553476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagatcatttttattcctgaCttcatatttcaagtttctga	4	7	4	3			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr4:185553476C>T	ENST00000308394.4	-	5	515	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	CASP3_ENST00000393588.4_Missense_Mutation_p.V85I|CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I|CASP3_ENST00000393585.2_Missense_Mutation_p.V85I	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	85					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	TTATTCCTGACTTCATATTTC	0.338																																						ENST00000308394.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(253-255)Gtc>Atc		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						128	120	123					4																	185553476		2203	4300	6503	SO:0001583	missense	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185553476C>T	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"Caspases"	1504	protein-coding gene	gene with protein product		600636	"caspase 3, apoptosis-related cysteine protease"			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.253G>A	4.37:g.185553476C>T	ENSP00000311032:p.Val85Ile					CASP3_ENST00000393588.4_Missense_Mutation_p.V85I|CASP3_ENST00000517513.1_Missense_Mutation_p.V85I|CASP3_ENST00000393585.2_Missense_Mutation_p.V85I|CASP3_ENST00000523916.1_Missense_Mutation_p.V85I	p.V85I	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	5	515	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	85					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.253G>A	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075339	0.55646	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000438467;ENST00000517513;ENST00000393588;ENST00000447121	T;T;T;T;T;T	0.56275	0.47;3.53;0.47;3.53;3.53;3.53	6.17	5.33	0.75918	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.110082	0.64402	D	0.000007	T	0.53061	0.1773	M	0.73598	2.24	0.58432	D	0.999999	B;B	0.34103	0.156;0.437	B;B	0.33254	0.16;0.11	T	0.57015	-0.7883	10	0.54805	T	0.06	.	11.9645	0.53027	0.1229:0.8134:0.0:0.0637	.	85;85	P42574;A8MVM1	CASP3_HUMAN;.	I	85;85;85;94;85;85;85	ENSP00000311032:V85I;ENSP00000377210:V85I;ENSP00000428929:V85I;ENSP00000428372:V85I;ENSP00000377213:V85I;ENSP00000407142:V85I	ENSP00000311032:V85I	V	-	1	0	CASP3	185790470	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.641000	0.37197	1.606000	0.50161	-0.182000	0.12963	GTC		0.338	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		4	79	0	0	0	1	0	4	79					T	185553476	C	T	185553476	3	4	50	1	0	0	0	0	1	0	0	0	2672	565	20	3	596	3	CASP3	4	185553476	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	21503352	185553476	5600800	10	953										
OPRM1	4988	broad.mit.edu	37	chr6	154414493	154414493	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgcaaggacctcttgtcaGatatgacctcccagctatcc	7	14	2	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr6:154414493G>T	ENST00000330432.7	+	3	1401				OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000229768.5_Missense_Mutation_p.R418I|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000518759.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCTCTTGTCAGATATGACCTC	0.512																																						ENST00000229768.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1252-1254)aGa>aTa		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						241	230	234					6																	154414493		1980	4165	6145	SO:0001627	intron_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154414493G>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1886G>T	6.37:g.154414493G>T						OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000330432.7_Intron	p.R418I	NM_001008505.1	NP_001008505.2	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	4	1303	+		Ovarian(120;0.196)	0					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1253G>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	5.991	0.366772	0.11352	.	.	ENSG00000112038	ENST00000229768	T	0.71222	-0.55	5.91	1.79	0.24919	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	8	0.87932	D	0	.	4.4757	0.11739	0.0:0.3778:0.1626:0.4596	.	418	P35372-3	.	I	418	ENSP00000229768:R418I	ENSP00000229768:R418I	R	+	2	0	OPRM1	154456186	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.485000	0.06520	-0.202000	0.10268	-0.120000	0.15030	AGA		0.512	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		5	191	1	0	1.024e-07	1	1.04676e-07	5	191					T	154414493	G	T	154414493	1	4	50	0	1	0	0	0	0	0	0	0	10887	942	33	5		5	OPRM1	6	154414493	Intron	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		154414493	16700574	11	954										
DOCK4	9732	broad.mit.edu	37	chr7	111484935	111484935	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccactatcacatctatttCctccagcacagatttttcct	4	14	2	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr7:111484935C>A	ENST00000437633.1	-	25	2876	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.E874*	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	874					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACATCTATTTCCTCCAGCACA	0.428																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(2620-2622)Gaa>Taa		dedicator of cytokinesis 4							121	118	119					7																	111484935		1873	4116	5989	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111484935C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2620G>T	7.37:g.111484935C>A	ENSP00000404179:p.Glu874*					DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E874*	p.E874*			Q8N1I0	DOCK4_HUMAN			25	2892	-		Acute lymphoblastic leukemia(1;0.0441)	874					O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.2620G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.409225|9.409225	0.99163|0.99163	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76666	.|0.4019	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73691	.|-0.3903	.|4	0.62326|.	D|.	0.03|.	.|.	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	862;874;874;862;873|325;861	.|.	ENSP00000345432:E862X|.	E|R	-|-	1|3	0|2	DOCK4|DOCK4	111272171|111272171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.084000|7.084000	0.76866|0.76866	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.428	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	135	1	0	2.31682e-05	1	2.31682e-05	13	135					A	111484935	C	A	111484935	4	1	50	1	0	0	0	0	0	1	0	0	4689	864	30	5	3392	5	DOCK4	7	111484935	Nonsense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		111484935	47653728	12	955										
FGFR1	2260	broad.mit.edu	37	chr8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcgtgcaggcccccagcagGttgatgatattcttatgctt	11	10	1	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.N546K(4)	central_nervous_system(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1636-1638)aaC>aaA		fibroblast growth factor receptor 1	Palifermin(DB00039)						87	95	92					8																	38274849		2154	4289	6443	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38274849G>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1638C>A	8.37:g.38274849G>T	ENSP00000400162:p.Asn546Lys					FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K	p.N546K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		12	2579	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	546			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1638C>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406498	0.83230	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.57	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	N	0.04387	-0.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88572	0.3130	10	0.87932	D	0	.	9.3132	0.37919	0.2169:0.0:0.7831:0.0	.	455;455;546;536;544	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	544;577;546;546;546;544;544;457;536;455;457;544	ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K	ENSP00000311337:N546K	N	-	3	2	FGFR1	38394006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.491000	0.48482	0.655000	0.94253	AAC		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				51	62	1	0	2.44813e-32	1	2.55941e-32	51	62					T	38274849	G	T	38274849	3	4	50	1	0	0	0	0	1	0	0	0	5863	1252	44	5	858	5	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		38274849	108089173	13	956										
PDE7A	5150	broad.mit.edu	37	chr8	66635840	66635840	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggactcacacccaaatgataTtttttttctatatctcctat	3	10	3	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr8:66635840T>C	ENST00000401827.3	-	12	1622	c.1179A>G	c.(1177-1179)aaA>aaG	p.K393K	PDE7A_ENST00000379419.4_Silent_p.K367K|PDE7A_ENST00000396642.3_Silent_p.K393K	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	393	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CCAAATGATATTTTTTTTCTA	0.294																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(1177-1179)aaA>aaG		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						39	41	41					8																	66635840		2203	4298	6501	SO:0001819	synonymous_variant	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66635840T>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1179A>G	8.37:g.66635840T>C						PDE7A_ENST00000396642.3_Silent_p.K393K|PDE7A_ENST00000379419.4_Silent_p.K367K	p.K393K	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		12	1622	-			393			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	ENST00000401827.3	37	c.1179A>G	CCDS56538.1																																																																																				0.294	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			14	21	0	0	0	1	0	14	21					C	66635840	T	C	66635840	2	2	50	1	0	0	0	0	0	0	0	1	11651	1490	52	4		4	PDE7A	8	66635840	Silent	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	28360991	66635840	79728182	14	957										
NLRP6	171389	broad.mit.edu	37	chr11	281682	281682	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctggcgctgcagcgagtgCgcttctgccgcatggacgtg	16	12	1	0			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr11:281682C>T	ENST00000312165.5	+	4	1948	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	NLRP6_ENST00000534750.1_Missense_Mutation_p.R650C	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	650					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAGCGAGTGCGCTTCTGCCG	0.637																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1948-1950)Cgc>Tgc		NLR family, pyrin domain containing 6							78	84	82					11																	281682		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281682C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1948C>T	11.37:g.281682C>T	ENSP00000309767:p.Arg650Cys					NLRP6_ENST00000312165.5_Missense_Mutation_p.R650C	p.R650C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2153	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	650					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1948C>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	0.394	-0.921719	0.02396	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.55234	0.53;0.53	2.93	-4.87	0.03123	.	1.387370	0.05169	N	0.499252	T	0.43033	0.1229	L	0.57536	1.79	0.09310	N	1	B;B	0.18013	0.025;0.013	B;B	0.10450	0.003;0.005	T	0.36089	-0.9762	10	0.56958	D	0.05	.	3.361	0.07186	0.3218:0.2303:0.0:0.4479	.	650;650	E9PJZ8;P59044	.;NALP6_HUMAN	C	650	ENSP00000433617:R650C;ENSP00000309767:R650C	ENSP00000309767:R650C	R	+	1	0	NLRP6	271682	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.644000	0.02002	-1.212000	0.02620	-0.521000	0.04368	CGC		0.637	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	108	0	0	0	1	0	4	108					T	281682	C	T	281682	3	4	50	1	0	0	0	0	1	0	0	0	10481	768	27	1	1962	1	NLRP6	11	281682	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		281682	134724834	15	958										
SCUBE2	57758	broad.mit.edu	37	chr11	9068919	9068919	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaccacattggttttctgcAtgaccctggcccactccaca	6	16	2	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr11:9068919A>G	ENST00000309263.3	-	15	1971	c.1899T>C	c.(1897-1899)caT>caC	p.H633H	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Silent_p.H662H|SCUBE2_ENST00000457346.2_Silent_p.H662H|SCUBE2_ENST00000450649.2_Silent_p.H507H			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	633						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGTTTTCTGCATGACCCTGGC	0.542																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1984-1986)caT>caC		signal peptide, CUB domain, EGF-like 2							72	69	70					11																	9068919		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9068919A>G	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1899T>C	11.37:g.9068919A>G						RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.H633H|SCUBE2_ENST00000520467.1_Silent_p.H662H|SCUBE2_ENST00000450649.2_Silent_p.H507H	p.H662H			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	2060	-			633					Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.1986T>C																																																																																					0.542	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		12	39	0	0	0	1	0	12	39					G	9068919	A	G	9068919	2	3	50	1	0	0	0	0	0	0	0	1	13945	214	8	4		4	SCUBE2	11	9068919	Silent	SNP	A	TCGA-QR-A70U-01A-11D-A35D-08	8787237	9068919	125937597	16	959										
PCID2	55795	broad.mit.edu	37	chr13	113854816	113854816	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgctccatctctgctgtcGatggcttcgtacacctgaaa	9	12	1	1	rs373967872		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr13:113854816G>C	ENST00000337344.4	-	2	127	c.51C>G	c.(49-51)atC>atG	p.I17M	PCID2_ENST00000375459.1_Missense_Mutation_p.I15M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000375457.2_Missense_Mutation_p.I15M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000375479.2_Missense_Mutation_p.I17M	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	17					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTCTGCTGTCGATGGCTTCGT	0.418																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(43-45)atC>atG		PCI domain containing 2							112	113	112					13																	113854816		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854816G>C	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.51C>G	13.37:g.113854816G>C	ENSP00000337405:p.Ile17Met					PCID2_ENST00000375479.2_Missense_Mutation_p.I17M|PCID2_ENST00000351317.3_Missense_Mutation_p.I17M|PCID2_ENST00000375477.1_Missense_Mutation_p.I17M|PCID2_ENST00000246505.5_Missense_Mutation_p.I17M|PCID2_ENST00000337344.4_Missense_Mutation_p.I17M|PCID2_ENST00000375459.1_Missense_Mutation_p.I15M	p.I15M	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	641	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	17					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.45C>G	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	G	7.486	0.649608	0.14516	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	-5.0	0.03001	.	0.109437	0.64402	D	0.000011	T	0.55386	0.1917	L	0.55103	1.725	0.48975	D	0.999737	B;B	0.34147	0.438;0.075	B;B	0.39706	0.307;0.023	T	0.51872	-0.8650	9	0.52906	T	0.07	-11.2457	13.2846	0.60235	0.555:0.0:0.445:0.0	.	17;17	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	M	17;17;17;17;15;15;17;15;17	.	ENSP00000246505:I17M	I	-	3	3	PCID2	112902817	0.931000	0.31567	0.300000	0.25030	0.188000	0.23474	0.049000	0.14099	-1.033000	0.03299	0.655000	0.94253	ATC		0.418	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		4	65	0	0	0	1	0	4	65					C	113854816	G	C	113854816	3	2	50	1	0	0	0	0	1	0	0	0	11579	1048	37	5	1200	5	PCID2	13	113854816	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		113854816	1315062	17	960										
ZFP106	64397	broad.mit.edu	37	chr15	42710138	42710145	+	Frame_Shift_Del	DEL	GCAACCAT	GCAACCAT	-													0	0	1	0	0	0	1	1	0	acaacgccaaatatcagagaGcaaccatgccactggagaga							TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr15:42710138_42710145delGCAACCAT	ENST00000263805.4	-	18	5779_5786	c.5453_5460delATGGTTGC	c.(5452-5460)catggttgcfs	p.HGC1818fs	ZNF106_ENST00000565380.1_Frame_Shift_Del_p.HGC1046fs|ZNF106_ENST00000565611.1_Frame_Shift_Del_p.HGC1003fs	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1818					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ATATCAGAGAGCAACCATGCCACTGGAG	0.476																																						ENST00000263805.4																			0											c.(5452-5460)cfs		zinc finger protein 106																																				SO:0001589	frameshift_variant	64397							g.chr15:42710138_42710145delGCAACCAT	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5453_5460delATGGTTGC	15.37:g.42710138_42710145delGCAACCAT	ENSP00000263805:p.His1818fs					ZNF106_ENST00000565611.1_Frame_Shift_Del_p.HGC1003fs|ZNF106_ENST00000565380.1_Frame_Shift_Del_p.HGC1046fs	p.HGC1818fs	NM_022473.1	NP_071918.1					18	5779_5786	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	ENST00000263805.4	37	c.5453_5460delATGGTTGC	CCDS32208.1																																																																																				0.476	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		12	25						12	25	---	---	---	---	-	42710145	GCAACCAT	-	42710138	7	5	50	1	0	1	0	1	0	0	0	0	17634	963	34	0	199	0	ZFP106	15	42710138	Frame_Shift_Del	DEL	GCAACCAT	TCGA-QR-A70U-01A-11D-A35D-08		42710138	59821254	18	961										
CACNA1H	8912	broad.mit.edu	37	chr16	1261283	1261283	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcttcatcatttttggcattTtgggtgtgcaggtgtgtggc	13	6	3	0			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:1261283T>A	ENST00000348261.5	+	22	4587	c.4339T>A	c.(4339-4341)Ttg>Atg	p.L1447M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1447M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1447					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TTTTGGCATTTTGGGTGTGCA	0.637																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4339-4341)Ttg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						114	129	124					16																	1261283		2163	4243	6406	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261283T>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4339T>A	16.37:g.1261283T>A	ENSP00000334198:p.Leu1447Met					CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1447M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1447M	p.L1447M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			22	4587	+		Hepatocellular(780;0.00369)	1447					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4339T>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279856	0.23392	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98567	-5.0;-5.0	4.35	2.23	0.28157	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.97898	0.9309	L	0.49778	1.585	0.36730	D	0.881661	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.998	D	0.97931	1.0320	10	0.87932	D	0	.	7.8163	0.29260	0.0:0.697:0.0:0.303	.	188;188;188;1447;1447	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	M	1447	ENSP00000334198:L1447M;ENSP00000351401:L1447M	ENSP00000334198:L1447M	L	+	1	2	CACNA1H	1201284	0.904000	0.30761	0.389000	0.26208	0.049000	0.14656	1.362000	0.34148	0.554000	0.29061	-0.608000	0.04076	TTG		0.637	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	136	0	0	0	1	0	8	136					A	1261283	T	A	1261283	3	1	50	1	0	0	0	0	1	0	0	0	2545	1838	64	5	4421	5	CACNA1H	16	1261283	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08		1261283	89093470	19	962										
SDR42E1	93517	broad.mit.edu	37	chr16	82033014	82033014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaaaatgaagtgaaccatcTctgttagaaaagcaaagcag	8	8	1	3			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr16:82033014T>C	ENST00000328945.5	-	3	1011	c.884A>G	c.(883-885)gAg>gGg	p.E295G	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	295					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTGAACCATCTCTGTTAGAAA	0.478																																						ENST00000328945.5																			0				NS(2)|endometrium(1)|lung(4)|skin(3)	10						c.(883-885)gAg>gGg		short chain dehydrogenase/reductase family 42E, member 1							72	70	71					16																	82033014		1933	4144	6077	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82033014T>C	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.884A>G	16.37:g.82033014T>C	ENSP00000332407:p.Glu295Gly						p.E295G	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN			3	1011	-			295					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.884A>G	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401563	0.62288	.	.	ENSG00000184860	ENST00000328945	D	0.87029	-2.2	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	H	0.94925	3.6	0.80722	D	1	P	0.42556	0.783	B	0.41174	0.349	D	0.92393	0.5923	10	0.51188	T	0.08	-24.4455	14.3302	0.66550	0.0:0.0:0.0:1.0	.	295	Q8WUS8	D42E1_HUMAN	G	295	ENSP00000332407:E295G	ENSP00000332407:E295G	E	-	2	0	SDR42E1	80590515	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	8.040000	0.89188	1.978000	0.57642	0.533000	0.62120	GAG		0.478	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		5	96	0	0	0	1	0	5	96					C	82033014	T	C	82033014	3	2	50	1	0	0	0	0	1	0	0	0	13973	1551	54	4	301	4	SDR42E1	16	82033014	Missense_Mutation	SNP	T	TCGA-QR-A70U-01A-11D-A35D-08	80771731	82033014	8321739	20	963										
CHD3	1107	broad.mit.edu	37	chr17	7803968	7803968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggggccacacatgctgcGgagactcaaggcagatgtct	14	11	2	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr17:7803968G>A	ENST00000330494.7	+	18	3047	c.2897G>A	c.(2896-2898)cGg>cAg	p.R966Q	CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R1025Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	966					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACATGCTGCGGAGACTCAAG	0.512																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3073-3075)cGg>cAg		chromodomain helicase DNA binding protein 3							73	71	72					17																	7803968		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7803968G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2897G>A	17.37:g.7803968G>A	ENSP00000332628:p.Arg966Gln					CHD3_ENST00000330494.7_Missense_Mutation_p.R966Q|CHD3_ENST00000358181.4_Missense_Mutation_p.R966Q	p.R1025Q	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			18	3075	+		Prostate(122;0.202)	966					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3074G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817556	0.70912	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.95272	-3.66;-3.66;-3.66	4.73	4.73	0.59995	SNF2-related (1);	0.000000	0.39407	N	0.001368	D	0.97898	0.9309	M	0.92555	3.32	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.80764	0.986;0.992;0.994	D	0.98810	1.0743	10	0.87932	D	0	-21.7737	18.2447	0.89981	0.0:0.0:1.0:0.0	.	966;966;1025	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	1025;966;966	ENSP00000369716:R1025Q;ENSP00000350907:R966Q;ENSP00000332628:R966Q	ENSP00000332628:R966Q	R	+	2	0	CHD3	7744693	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.763000	0.85283	2.627000	0.88993	0.561000	0.74099	CGG		0.512	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	70	0	0	0	1	0	6	70					A	7803968	G	A	7803968	3	1	50	1	0	0	0	0	1	0	0	0	3326	1116	39	2	3248	2	CHD3	17	7803968	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08		7803968	73391242	21	964										
EPX	8288	broad.mit.edu	37	chr17	56281693	56281693	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggtatcaccacggtttcaaGggacatcttcagagccaaca	9	12	4	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr17:56281693G>C	ENST00000225371.5	+	12	2167	c.2057G>C	c.(2056-2058)aGg>aCg	p.R686T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	686					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ACGGTTTCAAGGGACATCTTC	0.512																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(2056-2058)aGg>aCg		eosinophil peroxidase							110	96	101					17																	56281693		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56281693G>C	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2057G>C	17.37:g.56281693G>C	ENSP00000225371:p.Arg686Thr						p.R686T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			12	2167	+			686					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.2057G>C	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494198	0.26774	.	.	ENSG00000121053	ENST00000225371	T	0.68903	-0.36	5.62	3.64	0.41730	.	0.264861	0.41938	D	0.000786	T	0.71779	0.3380	M	0.69823	2.125	0.09310	N	1	P	0.45011	0.848	P	0.52031	0.688	T	0.61715	-0.7006	10	0.29301	T	0.29	-18.0962	10.5999	0.45360	0.1578:0.0:0.8422:0.0	.	686	P11678	PERE_HUMAN	T	686	ENSP00000225371:R686T	ENSP00000225371:R686T	R	+	2	0	EPX	53636692	0.000000	0.05858	0.342000	0.25602	0.889000	0.51656	-0.051000	0.11885	0.736000	0.32559	0.563000	0.77884	AGG		0.512	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	78	0	0	0	1	0	4	78					C	56281693	G	C	56281693	3	2	50	1	0	0	0	0	1	0	0	0	5200	1000	35	5	2103	5	EPX	17	56281693	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	48477725	56281693	24913517	22	965										
MUC16	94025	broad.mit.edu	37	chr19	9006392	9006392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagagggccaacactggtgCtcttgaacaagggcttgagc	13	10	1	3	rs201544283		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:9006392C>T	ENST00000397910.4	-	45	39829	c.39626G>A	c.(39625-39627)aGc>aAc	p.S13209N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACACTGGTGCTCTTGAACAA	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39625-39627)aGc>aAc		mucin 16, cell surface associated							102	85	91					19																	9006392		2027	4192	6219	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006392C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39626G>A	19.37:g.9006392C>T	ENSP00000381008:p.Ser13209Asn						p.S13209N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39829	-			13211			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39626G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.006|0.006	-2.043467|-2.043467	0.00398|0.00398	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.29397	.|1.57	2.85|2.85	-3.69|-3.69	0.04450|0.04450	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.39044	.|0.0;0.656	.|B;P	.|0.54759	.|0.001;0.76	T|T	0.56763|0.56763	-0.7925|-0.7925	3|7	.|0.87932	.|D	.|0	-2.947|-2.947	10.1049|10.1049	0.42528|0.42528	0.0:0.5653:0.0:0.4347|0.0:0.5653:0.0:0.4347	.|.	.|20854;13209	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	49|13209;340	.|ENSP00000381008:S13209N	.|ENSP00000381008:S13209N	A|S	-|-	1|2	0|0	MUC16|MUC16	8867392|8867392	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.863000|-0.863000	0.04259|0.04259	-1.669000|-1.669000	0.01470|0.01470	-2.594000|-2.594000	0.00164|0.00164	GCA|AGC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	145	0	0	0	1	0	5	145					T	9006392	C	T	9006392	3	4	50	1	0	0	0	0	1	0	0	0	9973	797	28	3	4057	3	MUC16	19	9006392	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		9006392	50122591	23	966										
RDH8	50700	broad.mit.edu	37	chr19	10129527	10129527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtcaaagctgtgcttccagGcatgaagaggaggcggcagg	16	9	1	2	rs576680490		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:10129527G>A	ENST00000171214.1	+	3	632	c.383G>A	c.(382-384)gGc>gAc	p.G128D	RDH8_ENST00000591589.1_Missense_Mutation_p.G148D	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	128					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGCTTCCAGGCATGAAGAGG	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		19151	0		0	False		,,,				2504	0					ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(442-444)gGc>gAc		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						88	85	86					19																	10129527		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10129527G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.383G>A	19.37:g.10129527G>A	ENSP00000171214:p.Gly128Asp					RDH8_ENST00000171214.1_Missense_Mutation_p.G128D	p.G148D			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		3	632	+			128					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.443G>A		.	.	.	.	.	.	.	.	.	.	G	3.858	-0.030382	0.07543	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	5.34	3.14	0.36123	NAD(P)-binding domain (1);	0.465573	0.25319	N	0.031536	D	0.85652	0.5746	L	0.38733	1.17	0.32445	N	0.546249	B	0.02656	0.0	B	0.11329	0.006	T	0.75169	-0.3412	10	0.02654	T	1	.	8.0772	0.30722	0.0887:0.1635:0.7478:0.0	.	128	Q9NYR8	RDH8_HUMAN	D	128	ENSP00000171214:G128D	ENSP00000171214:G128D	G	+	2	0	RDH8	9990527	0.965000	0.33210	0.609000	0.28983	0.980000	0.70556	2.843000	0.48238	1.177000	0.42855	0.491000	0.48974	GGC		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	79	0	0	0	1	0	4	79					A	10129527	G	A	10129527	3	1	50	1	0	0	0	0	1	0	0	0	13196	1203	42	3	393	3	RDH8	19	10129527	Missense_Mutation	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	1123135	10129527	48999456	24	967										
KCNJ14	3770	broad.mit.edu	37	chr19	48965044	48965044	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	gattcgggagacagccgggcGggcgatgaagaggaggccgg					rs528333472		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr19:48965044delG	ENST00000391884.1	+	1	539	c.63delG	c.(61-63)gcgfs	p.A21fs	KCNJ14_ENST00000342291.2_Frame_Shift_Del_p.A21fs			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	21					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	ACAGCCGGGCGGGCGATGAAG	0.746																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(61-63)gcfs		potassium inwardly-rectifying channel, subfamily J, member 14							3	5	4					19																	48965044		1600	3478	5078	SO:0001589	frameshift_variant	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965044delG	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.63delG	19.37:g.48965044delG	ENSP00000375756:p.Ala21fs					KCNJ14_ENST00000342291.2_Frame_Shift_Del_p.A21fs	p.A21fs			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	539	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	21						Frame_Shift_Del	DEL	ENST00000391884.1	37	c.63delG	CCDS12721.1																																																																																				0.746	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		2	4						2	4	---	---	---	---	-	48965044	G	-	48965044	7	5	50	1	0	1	0	1	0	0	0	0	8048	1103	39	0	65	0	KCNJ14	19	48965044	Frame_Shift_Del	DEL	G	TCGA-QR-A70U-01A-11D-A35D-08	38835517	48965044	10163939	25	968										
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"Interferons", "Fibronectin type III domain containing"	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	388						7	388	---	---	---	---	-	34799292	T	-	34799292	7	5	50	1	0	1	0	1	0	0	0	0	7550	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-QR-A70U-01A-11D-A35D-08		34799292	13330603	26	969										
SGSM1	129049	broad.mit.edu	37	chr22	25289433	25289433	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgcctgctatgcacagacCatggctgagtggctgggctg	14	11	0	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:25289433C>T	ENST00000400359.4	+	18	1978	c.1971C>T	c.(1969-1971)acC>acT	p.T657T	SGSM1_ENST00000400358.4_Silent_p.T602T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	657	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGCACAGACCATGGCTGAGT	0.652																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1804-1806)acC>acT		small G protein signaling modulator 1							34	37	36					22																	25289433		2118	4231	6349	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25289433C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1971C>T	22.37:g.25289433C>T						SGSM1_ENST00000400359.4_Silent_p.T657T	p.T602T	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			17	1863	+			657					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.1806C>T	CCDS46674.1																																																																																				0.652	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		3	33	0	0	0	1	0	3	33					T	25289433	C	T	25289433	2	4	50	1	0	0	0	0	0	0	0	1	14222	581	21	3		3	SGSM1	22	25289433	Silent	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08		25289433	26015133	27	970										
DEPDC5	9681	broad.mit.edu	37	chr22	32164840	32164840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacccagaaggtggagtttgCtggcatcaggtagatattac	12	8	1	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:32164840C>T	ENST00000382112.3	+	6	474	c.404C>T	c.(403-405)gCt>gTt	p.A135V	DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	135					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGGAGTTTGCTGGCATCAGG	0.488																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(403-405)gCt>gTt		DEP domain containing 5							226	213	217					22																	32164840		1953	4152	6105	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32164840C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.404C>T	22.37:g.32164840C>T	ENSP00000371546:p.Ala135Val					DEPDC5_ENST00000535622.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A135V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A107V|DEPDC5_ENST00000400248.1_Missense_Mutation_p.A135V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A135V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A135V	p.A135V			O75140	DEPD5_HUMAN			7	546	+			135					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.404C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667570	0.88348	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.44482	1.49;1.51;0.92;1.88;1.89;1.88;1.5;1.89;1.88;1.89	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.34521	1.04	0.80722	D	1	D;D;D;P;D;B	0.71674	0.998;0.998;0.982;0.888;0.998;0.34	D;D;P;P;D;B	0.80764	0.948;0.994;0.903;0.731;0.948;0.176	T	0.42155	-0.9468	10	0.27082	T	0.32	.	16.4014	0.83642	0.0:1.0:0.0:0.0	.	135;107;135;135;135;135	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	V	135;107;135;135;135;135;135;135;135;135;135	ENSP00000440210:A135V;ENSP00000441358:A107V;ENSP00000383101:A135V;ENSP00000266091:A135V;ENSP00000383108:A135V;ENSP00000383105:A135V;ENSP00000371539:A135V;ENSP00000371546:A135V;ENSP00000371545:A135V;ENSP00000383107:A135V	ENSP00000266091:A135V	A	+	2	0	DEPDC5	30494840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.610000	0.74178	2.519000	0.84933	0.655000	0.94253	GCT		0.488	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	134	0	0	0	1	0	4	134					T	32164840	C	T	32164840	3	4	50	1	0	0	0	0	1	0	0	0	4442	797	28	3	426	3	DEPDC5	22	32164840	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	6875407	32164840	19139726	28	971										
BRD1	23774	broad.mit.edu	37	chr22	50192316	50192316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcagccgcagctccatggCgacctgctccaccttcacct	9	18	2	0			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chr22:50192316C>T	ENST00000216267.8	-	4	2161	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T|BRD1_ENST00000542442.1_Missense_Mutation_p.A252T|BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000342989.5_Missense_Mutation_p.A154T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	559					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCTCCATGGCGACCTGCTCC	0.672																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1675-1677)Gcc>Acc		bromodomain containing 1							29	29	29					22																	50192316		2201	4299	6500	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192316C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1675G>A	22.37:g.50192316C>T	ENSP00000216267:p.Ala559Thr					BRD1_ENST00000342989.5_Missense_Mutation_p.A154T|BRD1_ENST00000404034.1_Missense_Mutation_p.A559T|BRD1_ENST00000404760.1_Missense_Mutation_p.A559T|BRD1_ENST00000457780.2_Missense_Mutation_p.A559T|BRD1_ENST00000542442.1_Missense_Mutation_p.A252T	p.A559T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	4	2161	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	559					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1675G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498554	0.44455	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.62498	2.43;2.43;2.37;2.19;0.02;0.02	4.96	4.96	0.65561	Bromodomain (1);	0.112377	0.64402	D	0.000011	T	0.56746	0.2006	M	0.64567	1.98	0.45676	D	0.998597	B;B;B;B	0.27559	0.027;0.181;0.015;0.046	B;B;B;B	0.14578	0.004;0.011;0.003;0.009	T	0.55566	-0.8121	10	0.31617	T	0.26	.	13.5565	0.61761	0.0:0.9222:0.0:0.0778	.	559;154;559;559	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	559;559;559;559;252;154;19	ENSP00000216267:A559T;ENSP00000384076:A559T;ENSP00000385858:A559T;ENSP00000410042:A559T;ENSP00000437514:A252T;ENSP00000345886:A154T	ENSP00000216267:A559T	A	-	1	0	BRD1	48578320	0.928000	0.31464	0.999000	0.59377	0.355000	0.29361	1.988000	0.40697	2.316000	0.78162	0.655000	0.94253	GCC		0.672	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		8	12	0	0	0	1	0	8	12					T	50192316	C	T	50192316	3	4	50	1	0	0	0	0	1	0	0	0	1501	768	27	1	1537	1	BRD1	22	50192316	Missense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	18027476	50192316	1112250	29	972										
USP9X	8239	broad.mit.edu	37	chrX	41012243	41012246	+	Frame_Shift_Del	DEL	AATC	AATC	-													0	0	1	0	0	0	1	1	0	gtgttttatcgccatgacttAatcaatcaacttcaacacaa							TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41012243_41012246delAATC	ENST00000324545.8	+	14	2439_2442	c.1806_1809delAATC	c.(1804-1809)ttaatcfs	p.LI602fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.LI602fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	602					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCATGACTTAATCAATCAACTTC	0.368																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(1804-1809)ttfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41012243_41012246delAATC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1806_1809delAATC	X.37:g.41012247_41012250delAATC	ENSP00000316357:p.Leu602fs					USP9X_ENST00000378308.2_Frame_Shift_Del_p.LI602fs	p.LI602fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			14	2439_2442	+			602					O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	c.1806_1809delAATC	CCDS43930.1																																																																																				0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		50	136						50	136	---	---	---	---	-	41012246	AATC	-	41012243	7	5	50	1	0	1	0	1	0	0	0	0	17087	359	13	0	1856	0	USP9X	23	41012243	Frame_Shift_Del	DEL	AATC	TCGA-QR-A70U-01A-11D-A35D-08		41012243	114258317	30	973										
USP9X	8239	broad.mit.edu	37	chrX	41045776	41045776	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaacttttttcagatcaacCaagttacccatgatcaagca	4	10	3	2			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41045776C>T	ENST00000324545.8	+	24	4198	c.3565C>T	c.(3565-3567)Caa>Taa	p.Q1189*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1189*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1189					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCAGATCAACCAAGTTACCCA	0.408																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3565-3567)Caa>Taa		ubiquitin specific peptidase 9, X-linked							150	133	139					X																	41045776		2203	4300	6503	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41045776C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3565C>T	X.37:g.41045776C>T	ENSP00000316357:p.Gln1189*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q1189*	p.Q1189*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			24	4198	+			1189					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.3565C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	48	14.703832	0.99806	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.7026	0.91626	0.0:1.0:0.0:0.0	.	.	.	.	X	1189	.	ENSP00000316357:Q1189X	Q	+	1	0	USP9X	40930720	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.445000	0.80570	2.447000	0.82792	0.600000	0.82982	CAA		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	147	0	0	0	1	0	8	147					T	41045776	C	T	41045776	4	4	50	1	0	0	0	0	0	1	0	0	17087	595	21	3	3655	3	USP9X	23	41045776	Nonsense_Mutation	SNP	C	TCGA-QR-A70U-01A-11D-A35D-08	33533	41045776	114224784	31	974										
USP9X	8239	broad.mit.edu	37	chrX	41069761	41069761	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttatttcattcatttcttaGgctttggggtgagcctgtta	9	6	3	1			TCGA-QR-A70U-01A-11D-A35D-08	TCGA-QR-A70U-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a3547db-d8b6-4da9-9586-080cf4ade52e	eeaad513-715a-4a3e-b710-a8a99aa281ae	g.chrX:41069761G>A	ENST00000324545.8	+	33	5648		c.e33-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCATTTCTTAGGCTTTGGGGT	0.328																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e33-1		ubiquitin specific peptidase 9, X-linked							109	103	105					X																	41069761		2160	4277	6437	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41069761G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5016-1G>A	X.37:g.41069761G>A						USP9X_ENST00000378308.2_Splice_Site		NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			33	5648	+								O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37		CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146363	0.77888	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6223	0.88085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40954705	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.090000	0.63153	0.594000	0.82650	.		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	5	112	0	0	0	1	0	5	112					A	41069761	G	A	41069761	5	1	50	1	0	0	0	0	0	0	1	0	17087	1014	35	3	5141	3	USP9X	23	41069761	Splice_Site	SNP	G	TCGA-QR-A70U-01A-11D-A35D-08	23985	41069761	114200799	32	975										
HSPG2	3339	broad.mit.edu	37	chr1	22207315	22207315	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	cgttgtaacgcagggagccgCcataggagtccacctggcac							TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr1:22207315delC	ENST00000374695.3	-	15	1911	c.1832delG	c.(1831-1833)ggcfs	p.G612fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	612	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGGAGCCGCCATAGGAGTC	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1831-1833)gcfs		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						26	27	26					1																	22207315		2191	4282	6473	SO:0001589	frameshift_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22207315delC	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1832delG	1.37:g.22207315delC	ENSP00000363827:p.Gly612fs						p.G612fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	15	1911	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	612			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.1832delG	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	4						2	4	---	---	---	---	-	22207315	C	-	22207315	7	5	51	1	0	1	0	1	0	0	0	0	7430	739	26	0	11675	0	HSPG2	1	22207315	Frame_Shift_Del	DEL	C	TCGA-QR-A70V-01A-11D-A35D-08		22207315	227043306	1	976										
VPS54	51542	broad.mit.edu	37	chr2	64199342	64199342	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcgaaggtatctttaggagGacaaatattcttgcatctct	8	7	3	0			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr2:64199342G>C	ENST00000272322.4	-	4	569	c.415C>G	c.(415-417)Cct>Gct	p.P139A	VPS54_ENST00000354504.3_Missense_Mutation_p.P22A|VPS54_ENST00000409558.4_Missense_Mutation_p.P127A			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	139					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCTTTAGGAGGACAAATATTC	0.289																																						ENST00000354504.3																			0				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(64-66)Cct>Gct		vacuolar protein sorting 54 homolog (S. cerevisiae)							76	74	74					2																	64199342		2202	4292	6494	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64199342G>C	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.415C>G	2.37:g.64199342G>C	ENSP00000272322:p.Pro139Ala					VPS54_ENST00000272322.4_Missense_Mutation_p.P139A|VPS54_ENST00000409558.3_Missense_Mutation_p.P127A	p.P22A			Q9P1Q0	VPS54_HUMAN			2	653	-			139					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.64C>G	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193820	0.58017	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.29655	1.56;1.56;1.56	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.51422	1.61	0.80722	D	1	B;B;B	0.27068	0.167;0.049;0.082	B;B;B	0.28011	0.053;0.039;0.085	T	0.05852	-1.0860	10	0.08599	T	0.76	.	16.0392	0.80651	0.0:0.0:0.8653:0.1347	.	22;139;127	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	A	22;139;127;127;139	ENSP00000346499:P22A;ENSP00000272322:P139A;ENSP00000386980:P127A	ENSP00000272322:P139A	P	-	1	0	VPS54	64052846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.685000	0.74543	2.682000	0.91365	0.555000	0.69702	CCT		0.289	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		14	58	0	0	0	1	0	14	58					C	64199342	G	C	64199342	3	2	51	1	0	0	0	0	1	0	0	0	17213	1174	41	5	2598	5	VPS54	2	64199342	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		64199342	179000031	2	977										
BCHE	590	broad.mit.edu	37	chr3	165547533	165547533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acttcttggtgaactccaagGcagggcatatgaaattataa	9	7	1	2	rs562543522		TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr3:165547533G>A	ENST00000264381.3	-	2	1455	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	430					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GAACTCCAAGGCAGGGCATAT	0.438																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1288-1290)gCc>gTc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						92	99	97					3																	165547533		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547533G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1289C>T	3.37:g.165547533G>A	ENSP00000264381:p.Ala430Val					BCHE_ENST00000540653.1_Intron	p.A430V	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	1455	-			430					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1289C>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.634635	0.00806	.	.	ENSG00000114200	ENST00000264381	D	0.95238	-3.65	5.46	4.58	0.56647	Carboxylesterase, type B (1);	0.403282	0.28338	N	0.015719	D	0.83571	0.5283	N	0.05330	-0.07	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.76774	-0.2835	10	0.02654	T	1	.	9.1388	0.36890	0.1612:0.0:0.8388:0.0	.	430	P06276	CHLE_HUMAN	V	430	ENSP00000264381:A430V	ENSP00000264381:A430V	A	-	2	0	BCHE	167030227	0.001000	0.12720	0.914000	0.36105	0.244000	0.25665	1.348000	0.33987	2.570000	0.86706	0.591000	0.81541	GCC		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			6	26	0	0	0	1	0	6	26					A	165547533	G	A	165547533	3	1	51	1	0	0	0	0	1	0	0	0	1358	1203	42	3	531	3	BCHE	3	165547533	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		165547533	32474897	3	978										
PCDHB4	56131	broad.mit.edu	37	chr5	140502263	140502263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gtctggcacggtcatggttcGaatcctgatcatggacatca	11	10	4	1	rs367626652		TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:140502263G>A	ENST00000194152.1	+	1	683	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCATGGTTCGAATCCTGATC	0.537																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(682-684)cGa>cAa									130	120	123					5																	140502263		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502263G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.683G>A	5.37:g.140502263G>A	ENSP00000194152:p.Arg228Gln						p.R228Q	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	683	+			228			Cadherin 2.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.683G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435166	0.12045	.	.	ENSG00000081818	ENST00000194152	T	0.52754	0.65	4.31	-0.709	0.11237	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34221	0.0890	L	0.28608	0.87	0.09310	N	1	B	0.15473	0.013	B	0.19391	0.025	T	0.25882	-1.0119	9	0.34782	T	0.22	.	11.0503	0.47882	0.5953:0.0:0.4047:0.0	.	228	Q9Y5E5	PCDB4_HUMAN	Q	228	ENSP00000194152:R228Q	ENSP00000194152:R228Q	R	+	2	0	PCDHB4	140482447	0.000000	0.05858	0.054000	0.19295	0.749000	0.42624	-3.184000	0.00567	-0.281000	0.09141	-0.781000	0.03364	CGA		0.537	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		34	36	0	0	0	1	0	34	36					A	140502263	G	A	140502263	3	1	51	1	0	0	0	0	1	0	0	0	11544	1058	37	2	685	2	PCDHB4	5	140502263	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		140502263	40412997	4	979										
PCDHB6	56130	broad.mit.edu	37	chr5	140530109	140530109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctaaatgaaaaactggacCgggaggagctgtgtggctcc	14	8	0	1			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr5:140530109C>T	ENST00000231136.1	+	1	271	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAACTGGACCGGGAGGAGCT	0.507																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(271-273)Cgg>Tgg									71	77	75					5																	140530109		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530109C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.271C>T	5.37:g.140530109C>T	ENSP00000231136:p.Arg91Trp					PCDHB6_ENST00000543635.1_5'UTR	p.R91W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	271	+			91			Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.271C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514877	0.27123	.	.	ENSG00000113211	ENST00000231136	T	0.54071	0.59	4.97	3.14	0.36123	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	D	0.83510	0.5270	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88780	0.3270	9	0.87932	D	0	.	13.3638	0.60671	0.543:0.457:0.0:0.0	.	91	Q9Y5E3	PCDB6_HUMAN	W	91	ENSP00000231136:R91W	ENSP00000231136:R91W	R	+	1	2	PCDHB6	140510293	0.566000	0.26618	0.994000	0.49952	0.130000	0.20726	0.212000	0.17497	0.566000	0.29273	-0.314000	0.08810	CGG		0.507	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		13	57	0	0	0	1	0	13	57					T	140530109	C	T	140530109	3	4	51	1	0	0	0	0	1	0	0	0	11546	643	23	2	273	2	PCDHB6	5	140530109	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	27846	140530109	40385151	5	980										
PCMTD1	115294	broad.mit.edu	37	chr8	52732912	52732912	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttcttcttgatctaagtTatttgtctctaaaatatgtc	4	6	4	1			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:52732912T>G	ENST00000360540.5	-	7	1479	c.1073A>C	c.(1072-1074)tAa>tCa	p.*358S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	0						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGATCTAAGTTATTTGTCTCT	0.338																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(1072-1074)tAa>tCa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							35	35	35					8																	52732912		2199	4298	6497	SO:0001578	stop_lost	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732912T>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1073A>C	8.37:g.52732912T>G						PCMTD1_ENST00000544451.1_Nonstop_Mutation_p.*282S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonstop_Mutation_p.*358S	p.*358S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1479	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	0					Q96FK9	Nonstop_Mutation	SNP	ENST00000360540.5	37	c.1073A>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809016	0.70797	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8996	0.47043	0.0:0.0695:0.0:0.9305	.	.	.	.	S	358;282;358	.	.	X	-	2	2	PCMTD1	52895465	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	4.327000	0.59247	2.326000	0.78906	0.533000	0.62120	TAA		0.338	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		4	55	0	0	0	1	0	4	55					G	52732912	T	G	52732912	4	3	51	1	0	0	0	0	0	0	0	0	11586	1761	61	5	4	5	PCMTD1	8	52732912	Nonstop_Mutation	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		52732912	93631110	6	981										
C8orf37	157657	broad.mit.edu	37	chr8	96264494	96264494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaaatcacaggctatacaaCgcagatggtcacatgctctg	9	10	3	2	rs139137766	byFrequency	TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:96264494C>T	ENST00000286688.5	-	5	403	c.392G>A	c.(391-393)cGt>cAt	p.R131H		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	131						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					GGCTATACAACGCAGATGGTC	0.328													C|||	2	0.000399361	0.0015	0	5008	,	,		18003	0		0	False		,,,				2504	0					ENST00000286688.5																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(391-393)cGt>cAt		chromosome 8 open reading frame 37		C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	99	94	96		392	5	1	8	dbSNP_134	96	0,8600		0,0,4300	yes	missense	C8orf37	NM_177965.3	29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	131/208	96264494	10,12996	2203	4300	6503	SO:0001583	missense	157657							g.chr8:96264494C>T	AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.392G>A	8.37:g.96264494C>T	ENSP00000286688:p.Arg131His						p.R131H	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN			5	403	-	Breast(36;3.41e-05)		131						Missense_Mutation	SNP	ENST00000286688.5	37	c.392G>A	CCDS6268.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.19	3.052537	0.55218	0.00227	0.0	ENSG00000156172	ENST00000286688	D	0.87809	-2.3	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.83953	2.67	0.47547	D	0.999459	D	0.89917	1.0	D	0.66196	0.942	D	0.94497	0.7706	10	0.87932	D	0	-10.1524	18.6169	0.91305	0.0:1.0:0.0:0.0	.	131	Q96NL8	CH037_HUMAN	H	131	ENSP00000286688:R131H	ENSP00000286688:R131H	R	-	2	0	C8orf37	96333670	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	6.877000	0.75562	2.480000	0.83734	0.555000	0.69702	CGT		0.328	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1	NM_177965		5	79	0	0	0	1	0	5	79					T	96264494	C	T	96264494	3	4	51	1	0	0	0	0	1	0	0	0	2423	536	19	1	239	1	C8orf37	8	96264494	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	43531582	96264494	50099528	7	982										
CYP11B1	1584	broad.mit.edu	37	chr8	143961139	143961139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcagcactgtcctggggaCccgggcggctctcgtgccca	16	15	1	0			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr8:143961139C>A	ENST00000292427.4	-	1	123	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	CYP11B1_ENST00000377675.3_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	31					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTCCTGGGGACCCGGGCGGCT	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(91-93)Gtc>Ttc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						71	70	70					8																	143961139		2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961139C>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.91G>T	8.37:g.143961139C>A	ENSP00000292427:p.Val31Phe					CYP11B1_ENST00000377675.3_Missense_Mutation_p.V31F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.V31F	p.V31F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			1	123	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		31					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.91G>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141469	0.21205	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83914	-1.0;-1.78;-1.08	2.96	-0.279	0.12890	.	0.844623	0.09777	N	0.757221	T	0.64227	0.2579	N	0.08118	0	0.09310	N	1	B;B;B	0.26512	0.151;0.008;0.082	B;B;B	0.29942	0.109;0.003;0.05	T	0.55127	-0.8189	10	0.62326	D	0.03	.	2.9415	0.05831	0.2136:0.5148:0.0:0.2716	.	31;31;31	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	F	31	ENSP00000292427:V31F;ENSP00000428043:V31F;ENSP00000366903:V31F	ENSP00000292427:V31F	V	-	1	0	CYP11B1	143958141	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.024000	0.13555	-0.239000	0.09710	0.305000	0.20034	GTC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			29	20	1	0	1.75199e-13	1	1.83162e-13	29	20					A	143961139	C	A	143961139	3	1	51	1	0	0	0	0	1	0	0	0	4145	507	18	5	1456	5	CYP11B1	8	143961139	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	47696645	143961139	2402883	8	983										
DKK3	27122	broad.mit.edu	37	chr11	12020296	12020296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgataactgtctctgaaaAgaccatttgtccagtctggt	9	8	2	3			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr11:12020296A>T	ENST00000396505.2	-	4	620	c.382T>A	c.(382-384)Ttt>Att	p.F128I	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.F128I|DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000450094.2_Intron	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	128					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GTCTCTGAAAAGACCATTTGT	0.418																																						ENST00000396505.2																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8						c.(382-384)Ttt>Att		dickkopf WNT signaling pathway inhibitor 3							199	174	182					11																	12020296		2201	4294	6495	SO:0001583	missense	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:12020296A>T	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"regulated in glioma"	605416	"dickkopf (Xenopus laevis) homolog 3", "dickkopf 3 homolog (Xenopus laevis)"			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.382T>A	11.37:g.12020296A>T	ENSP00000379762:p.Phe128Ile					DKK3_ENST00000326932.4_Missense_Mutation_p.F128I|DKK3_ENST00000450094.2_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.F128I|DKK3_ENST00000527132.1_Intron	p.F128I	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	4	620	-			128					A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	c.382T>A	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.402864	0.25291	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000533813	T;T;T;T	0.20598	2.35;2.35;2.35;2.06	4.99	2.58	0.30949	.	0.444283	0.26103	N	0.026338	T	0.10380	0.0254	N	0.24115	0.695	0.58432	D	0.999991	P;B	0.39022	0.655;0.013	B;B	0.31191	0.125;0.004	T	0.13522	-1.0506	10	0.42905	T	0.14	-0.7928	6.5928	0.22656	0.6884:0.1672:0.0:0.1444	.	128;128	F6SYF8;Q9UBP4	.;DKK3_HUMAN	I	128;128;71;128;128	ENSP00000379762:F128I;ENSP00000314910:F128I;ENSP00000433112:F128I;ENSP00000435269:F128I	ENSP00000314910:F128I	F	-	1	0	DKK3	11976872	1.000000	0.71417	0.978000	0.43139	0.274000	0.26718	2.177000	0.42509	0.910000	0.36722	-0.336000	0.08194	TTT		0.418	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		30	37	0	0	0	1	0	30	37					T	12020296	A	T	12020296	3	4	51	1	0	0	0	0	1	0	0	0	4546	72	3	5	690	5	DKK3	11	12020296	Missense_Mutation	SNP	A	TCGA-QR-A70V-01A-11D-A35D-08		12020296	122986220	9	984										
FGD6	55785	broad.mit.edu	37	chr12	95528532	95528532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctgtcagcaacagcctgTactgggggatcctctgaacc	10	14	2	1			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr12:95528532T>C	ENST00000343958.4	-	8	3288	c.3065A>G	c.(3064-3066)tAc>tGc	p.Y1022C	FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1022	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CAACAGCCTGTACTGGGGGAT	0.517																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3064-3066)tAc>tGc		FYVE, RhoGEF and PH domain containing 6							56	49	52					12																	95528532		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95528532T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3065A>G	12.37:g.95528532T>C	ENSP00000344446:p.Tyr1022Cys					FGD6_ENST00000549499.1_Missense_Mutation_p.Y1022C|FGD6_ENST00000546711.1_Missense_Mutation_p.Y1022C	p.Y1022C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			8	3288	-			1022			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3065A>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357624	0.82243	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.69306	-0.39;-0.39;-0.39	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.44285	D	0.000465	D	0.87641	0.6228	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.91507	0.5224	10	0.87932	D	0	-16.3465	16.2303	0.82332	0.0:0.0:0.0:1.0	.	1022;1022	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	C	1022	ENSP00000344446:Y1022C;ENSP00000450342:Y1022C;ENSP00000449005:Y1022C	ENSP00000344446:Y1022C	Y	-	2	0	FGD6	94052663	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.625000	0.83145	2.233000	0.73108	0.533000	0.62120	TAC		0.517	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		12	15	0	0	0	1	0	12	15					C	95528532	T	C	95528532	3	2	51	1	0	0	0	0	1	0	0	0	5837	1638	57	4	1283	4	FGD6	12	95528532	Missense_Mutation	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		95528532	38323363	10	985										
FBXO21	23014	broad.mit.edu	37	chr12	117595766	117595766	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctctacgcccacctcctCctttttgcgctcaatgtgct	5	18	2	0			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr12:117595766C>G	ENST00000330622.5	-	10	1449	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	FBXO21_ENST00000427718.2_Missense_Mutation_p.E477Q			O94952	FBX21_HUMAN	F-box protein 21	484					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCCACCTCCTCCTTTTTGCGC	0.582																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1429-1431)Gag>Cag		F-box protein 21							230	202	212					12																	117595766		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595766C>G	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1450G>C	12.37:g.117595766C>G	ENSP00000328187:p.Glu484Gln					FBXO21_ENST00000330622.5_Missense_Mutation_p.E484Q	p.E477Q	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1503	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		484					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1429G>C	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.37|18.37	3.609802|3.609802	0.66558|0.66558	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840|ENST00000550180	T;T|.	0.46819|.	0.87;0.86|.	5.02|5.02	5.02|5.02	0.67125|0.67125	F-box domain, Skp2-like (1);|.	0.125479|.	0.56097|.	D|.	0.000035|.	T|T	0.53594|0.53594	0.1806|0.1806	N|N	0.19112|0.19112	0.55|0.55	0.51767|0.51767	D|D	0.999935|0.999935	P;B;P;P|.	0.51933|.	0.932;0.07;0.948;0.949|.	P;B;P;P|.	0.51324|.	0.478;0.016;0.666;0.498|.	T|T	0.48581|0.48581	-0.9023|-0.9023	10|5	0.36615|.	T|.	0.2|.	-14.1729|-14.1729	18.5372|18.5372	0.91014|0.91014	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	333;227;484;477|.	Q8IUQ5;B3KQC8;O94952;O94952-1|.	.;.;FBX21_HUMAN;.|.	Q|A	477;393;333;484;136|360	ENSP00000414468:E477Q;ENSP00000328187:E484Q|.	ENSP00000257563:E393Q|.	E|G	-|-	1|2	0|0	FBXO21|FBXO21	116080149|116080149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.750000|5.750000	0.68712|0.68712	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.582	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		96	95	0	0	0	1	0	96	95					G	117595766	C	G	117595766	3	3	51	1	0	0	0	0	1	0	0	0	5733	864	30	5	448	5	FBXO21	12	117595766	Missense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	22067234	117595766	16256129	11	986										
RNF17	56163	broad.mit.edu	37	chr13	25399864	25399864	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagttcaagatcaagcctgTgtagctaaatttgaagatgg	10	7	2	3			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr13:25399864T>C	ENST00000255324.5	+	16	2251	c.2199T>C	c.(2197-2199)tgT>tgC	p.C733C	RNF17_ENST00000381921.1_Silent_p.C733C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	733	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATCAAGCCTGTGTAGCTAAAT	0.363																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2197-2199)tgT>tgC		ring finger protein 17							104	101	102					13																	25399864		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399864T>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2199T>C	13.37:g.25399864T>C						RNF17_ENST00000381921.1_Silent_p.C733C	p.C733C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2251	+		Lung SC(185;0.0225)|Breast(139;0.077)	733			Tudor 1.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.2199T>C	CCDS9308.2																																																																																				0.363	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		14	73	0	0	0	1	0	14	73					C	25399864	T	C	25399864	2	2	51	1	0	0	0	0	0	0	0	1	13461	1702	59	4		4	RNF17	13	25399864	Silent	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08		25399864	89770014	12	987										
MRPL46	26589	broad.mit.edu	37	chr15	89010473	89010473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcacaacgcgcccaacaagcGccatggggatccgttgcttg	12	14	0	0			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr15:89010473G>A	ENST00000312475.4	-	1	177	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	MRPL46_ENST00000559538.1_5'Flank|MRPS11_ENST00000353598.6_5'Flank|MRPS11_ENST00000325844.4_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	46						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCCAACAAGCGCCATGGGGAT	0.652																																						ENST00000312475.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(136-138)Cgc>Tgc		mitochondrial ribosomal protein L46							41	41	41					15																	89010473		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010473G>A	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"Mitochondrial ribosomal proteins / large subunits"	1192	protein-coding gene	gene with protein product		611851	"chromosome 15 open reading frame 4"	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.136C>T	15.37:g.89010473G>A	ENSP00000312311:p.Arg46Cys						p.R46C	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		1	177	-	Lung NSC(78;0.203)		46					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.136C>T	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946674	0.53186	.	.	ENSG00000173867	ENST00000312475	T	0.45668	0.89	4.86	3.95	0.45737	.	0.327917	0.31976	N	0.006771	T	0.58581	0.2132	M	0.73962	2.25	0.58432	D	0.999996	D	0.89917	1.0	D	0.68621	0.959	T	0.59799	-0.7386	10	0.54805	T	0.06	.	7.9062	0.29763	0.086:0.0:0.7543:0.1597	.	46	Q9H2W6	RM46_HUMAN	C	46	ENSP00000312311:R46C	ENSP00000312311:R46C	R	-	1	0	MRPL46	86811477	0.986000	0.35501	0.992000	0.48379	0.273000	0.26683	1.280000	0.33202	1.264000	0.44198	0.655000	0.94253	CGC		0.652	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		13	13	0	0	0	1	0	13	13					A	89010473	G	A	89010473	3	1	51	1	0	0	0	0	1	0	0	0	9810	1087	38	1	719	1	MRPL46	15	89010473	Missense_Mutation	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		89010473	13520919	13	988										
NF1	4763	broad.mit.edu	37	chr17	29653263	29653263	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	tcacaaagacaccaaagtttCtattaaagtaagttccagtc							TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:29653263delC	ENST00000358273.4	+	37	5644	c.5261delC	c.(5260-5262)tctfs	p.S1754fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1754	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAAAGTTTCTATTAAAGTA	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5260-5262)ttfs		neurofibromin 1							59	56	57					17																	29653263		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29653263delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5261delC	17.37:g.29653263delC	ENSP00000351015:p.Ser1754fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.S1733fs	p.S1754fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5644	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1754					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.5261delC	CCDS42292.1																																																																																				0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	2						18	2	---	---	---	---	-	29653263	C	-	29653263	7	5	51	1	0	1	0	1	0	0	0	0	10356	913	32	0	5468	0	NF1	17	29653263	Frame_Shift_Del	DEL	C	TCGA-QR-A70V-01A-11D-A35D-08		29653263	51541947	14	989										
CCT6B	10693	broad.mit.edu	37	chr17	33269552	33269552	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgactgagcacagactttgTccttcaggtctattattttt	7	8	2	3			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:33269552T>C	ENST00000314144.5	-	7	951	c.836A>G	c.(835-837)gAc>gGc	p.D279G	CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G|CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	279					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACAGACTTTGTCCTTCAGGTC	0.294																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(835-837)gAc>gGc		chaperonin containing TCP1, subunit 6B (zeta 2)							74	70	71					17																	33269552		2203	4296	6499	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33269552T>C	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.836A>G	17.37:g.33269552T>C	ENSP00000327191:p.Asp279Gly					CCT6B_ENST00000436961.3_Missense_Mutation_p.D234G|CCT6B_ENST00000421975.3_Missense_Mutation_p.D242G	p.D279G	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			7	951	-		Ovarian(249;0.17)	279					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.836A>G	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977448	0.34848	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78364	-1.17;-1.17;-1.17	4.06	1.85	0.25348	.	0.577782	0.19827	N	0.105172	T	0.59972	0.2233	N	0.14661	0.345	0.20821	N	0.999841	B;B;B	0.13594	0.004;0.0;0.008	B;B;B	0.25987	0.045;0.005;0.065	T	0.54302	-0.8314	10	0.59425	D	0.04	-0.1507	6.7278	0.23367	0.0:0.2128:0.0:0.7872	.	234;242;279	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	G	242;279;234	ENSP00000398044:D242G;ENSP00000327191:D279G;ENSP00000400917:D234G	ENSP00000327191:D279G	D	-	2	0	CCT6B	30293665	0.999000	0.42202	0.895000	0.35142	0.832000	0.47134	3.547000	0.53663	0.695000	0.31675	0.482000	0.46254	GAC		0.294	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		17	2	0	0	0	1	0	17	2					C	33269552	T	C	33269552	3	2	51	1	0	0	0	0	1	0	0	0	2958	1667	58	4	788	4	CCT6B	17	33269552	Missense_Mutation	SNP	T	TCGA-QR-A70V-01A-11D-A35D-08	3616289	33269552	47925658	15	990										
DNAI2	64446	broad.mit.edu	37	chr17	72285858	72285858	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgggcatgagcagcgattCatacatctgggacctgggtg	15	8	2	1			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chr17:72285858C>A	ENST00000311014.6	+	5	660	c.593C>A	c.(592-594)tCa>tAa	p.S198*	DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*|DNAI2_ENST00000579490.1_Nonsense_Mutation_p.S255*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	198					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCAGCGATTCATACATCTGG	0.637									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(763-765)tCa>tAa		dynein, axonemal, intermediate chain 2							62	60	61					17																	72285858		2203	4300	6503	SO:0001587	stop_gained	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285858C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.593C>A	17.37:g.72285858C>A	ENSP00000308312:p.Ser198*					DNAI2_ENST00000582036.1_Nonsense_Mutation_p.S198*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.S198*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.S198*|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.S55*	p.S255*			Q9GZS0	DNAI2_HUMAN			4	899	+			198					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Nonsense_Mutation	SNP	ENST00000311014.6	37	c.764C>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	41	8.596512	0.98879	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2476	17.857	0.88767	0.0:1.0:0.0:0.0	.	.	.	.	X	198;55;198	.	ENSP00000302929:S55X	S	+	2	0	DNAI2	69797453	1.000000	0.71417	0.628000	0.29241	0.898000	0.52572	7.077000	0.76814	2.229000	0.72834	0.491000	0.48974	TCA		0.637	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		3	45	1	0	1	1	1	3	45					A	72285858	C	A	72285858	4	1	51	1	0	0	0	0	0	1	0	0	4610	838	29	5	607	5	DNAI2	17	72285858	Nonsense_Mutation	SNP	C	TCGA-QR-A70V-01A-11D-A35D-08	39016306	72285858	8909352	16	991										
IQSEC2	23096	broad.mit.edu	37	chrX	53279664	53279664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaattgctggagctctcaagGctctcgttatctccaccatc	8	13	3	0			TCGA-QR-A70V-01A-11D-A35D-08	TCGA-QR-A70V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5873ba50-f22c-4a5e-81c5-e2997bee3a8f	08885038-9c83-4bfc-9c3b-c3eb2b8c67e2	g.chrX:53279664G>A	ENST00000375368.5	-	4	2264	c.2064C>T	c.(2062-2064)agC>agT	p.S688S	IQSEC2_ENST00000375365.2_Silent_p.S493S|IQSEC2_ENST00000396435.3_Silent_p.S698S			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	688					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AGCTCTCAAGGCTCTCGTTAT	0.617																																						ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(2092-2094)agC>agT		IQ motif and Sec7 domain 2							77	57	64					X																	53279664		2203	4300	6503	SO:0001819	synonymous_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53279664G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2064C>T	X.37:g.53279664G>A						IQSEC2_ENST00000375368.5_Silent_p.S688S|IQSEC2_ENST00000375365.2_Silent_p.S493S	p.S698S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			5	2294	-			688					B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37	c.2094C>T																																																																																					0.617	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		4	40	0	0	0	1	0	4	40					A	53279664	G	A	53279664	2	1	51	1	0	0	0	0	0	0	0	1	7818	1194	42	3		3	IQSEC2	23	53279664	Silent	SNP	G	TCGA-QR-A70V-01A-11D-A35D-08		53279664	101990896	17	992										
NBPF15	284565	broad.mit.edu	37	chr1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A													0	0	1	0	NA	0	1	1	0	tggaagtggaagagcctgaaGtcttacaggactcactggat							TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	258	0	0	0	1	0	7	258					A	148594434	G	A	148594434	3	1	52	1	0	0	0	0	1	0	0	0	10195	1029	36	3	1865	3	NBPF15	1	148594434	Missense_Mutation	SNP	G	TCGA-QR-A70W-01A-12D-A35D-08		148594434	100656187	1	993	8	2								
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G													0	0	1	0	NA	0	1	1	0	gtggaagagcctgaagtcttAcaggactcactggatagatg							TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	262	0	0	0	1	0	7	262					G	148594439	A	G	148594439	2	3	52	1	0	0	0	0	0	0	0	1	10195	388	14	4		4	NBPF15	1	148594439	Silent	SNP	A	TCGA-QR-A70W-01A-12D-A35D-08	5	148594439	100656182	2	994	8	2								
SAG	6295	broad.mit.edu	37	chr2	234243689	234243689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aacaatcgagaaaggagaggCattgccctggatgggaaaat	13	6	0	2			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr2:234243689C>T	ENST00000409110.1	+	11	1118	c.888C>T	c.(886-888)ggC>ggT	p.G296G	SAG_ENST00000449594.2_Silent_p.G162G	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	296					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAAGGAGAGGCATTGCCCTGG	0.542																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(886-888)ggC>ggT		S-antigen; retina and pineal gland (arrestin)							79	85	83					2																	234243689		2173	4284	6457	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234243689C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.888C>T	2.37:g.234243689C>T						SAG_ENST00000449594.2_Silent_p.G162G	p.G296G	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	11	1118	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	296					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.888C>T	CCDS46545.1																																																																																				0.542	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		22	30	0	0	0	1	0	22	30					T	234243689	C	T	234243689	2	4	52	1	0	0	0	0	0	0	0	1	13808	697	25	3		3	SAG	2	234243689	Silent	SNP	C	TCGA-QR-A70W-01A-12D-A35D-08		234243689	8955684	3	995										
THAP4	51078	broad.mit.edu	37	chr2	242545840	242545840	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	gtgggtccgacagccaggtgCccagcatccaggacagtggc							TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr2:242545840delC	ENST00000407315.1	-	3	1720	c.1289delG	c.(1288-1290)ggcfs	p.G430fs	THAP4_ENST00000402545.1_Frame_Shift_Del_p.G18fs|THAP4_ENST00000402136.1_Frame_Shift_Del_p.G18fs	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	430							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CAGCCAGGTGCCCAGCATCCA	0.617																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1288-1290)gcfs		THAP domain containing 4							40	32	35					2																	242545840		2203	4296	6499	SO:0001589	frameshift_variant	51078						DNA binding|metal ion binding	g.chr2:242545840delC	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1289delG	2.37:g.242545840delC	ENSP00000385006:p.Gly430fs					THAP4_ENST00000402136.1_Frame_Shift_Del_p.G18fs|THAP4_ENST00000402545.1_Frame_Shift_Del_p.G18fs	p.G430fs	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	3	1720	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	430					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Frame_Shift_Del	DEL	ENST00000407315.1	37	c.1289delG	CCDS2551.1																																																																																				0.617	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		2	4						2	4	---	---	---	---	-	242545840	C	-	242545840	7	5	52	1	0	1	0	1	0	0	0	0	15843	739	26	0	460	0	THAP4	2	242545840	Frame_Shift_Del	DEL	C	TCGA-QR-A70W-01A-12D-A35D-08	8302151	242545840	653533	4	996										
PLEKHG4B	153478	broad.mit.edu	37	chr5	162009	162009	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tggtcagccaggctgagtgcAgggagggagagctggccagg	20	8	1	2			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr5:162009A>G	ENST00000283426.6	+	10	1581	c.1531A>G	c.(1531-1533)Agg>Ggg	p.R511G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	511							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGCTGAGTGCAGGGAGGGAGA	0.632																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(1531-1533)Agg>Ggg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B							82	70	74					5																	162009		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162009A>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1531A>G	5.37:g.162009A>G	ENSP00000283426:p.Arg511Gly						p.R511G	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	1581	+			511						Missense_Mutation	SNP	ENST00000283426.6	37	c.1531A>G	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	8.792	0.930784	0.18131	.	.	ENSG00000153404	ENST00000283426	D	0.92446	-3.04	2.59	-0.344	0.12628	.	.	.	.	.	D	0.86083	0.5848	L	0.58101	1.795	0.09310	N	1	P	0.43477	0.808	B	0.39027	0.288	T	0.74497	-0.3646	9	0.21540	T	0.41	.	3.0878	0.06284	0.5972:0.249:0.1538:0.0	.	511	Q96PX9	PKH4B_HUMAN	G	511	ENSP00000283426:R511G	ENSP00000283426:R511G	R	+	1	2	PLEKHG4B	215009	0.115000	0.22152	0.000000	0.03702	0.002000	0.02628	0.295000	0.19065	-0.340000	0.08388	-0.556000	0.04195	AGG		0.632	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		7	25	0	0	0	1	0	7	25					G	162009	A	G	162009	3	3	52	1	0	0	0	0	1	0	0	0	12072	179	7	4	1569	4	PLEKHG4B	5	162009	Missense_Mutation	SNP	A	TCGA-QR-A70W-01A-12D-A35D-08		162009	180753251	5	997										
C6orf138	442213	broad.mit.edu	37	chr6	48036151	48036151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caggctgcgctcgatcttggCcaggctgtggctgggagcga	17	11	1	0			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr6:48036151C>T	ENST00000339488.4	-	1	274	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	PTCHD4_ENST00000543600.1_Missense_Mutation_p.A64T	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	81						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TCGATCTTGGCCAGGCTGTGG	0.652																																						ENST00000543600.1																			0											c.(190-192)Gcc>Acc		patched domain containing 4							47	53	51					6																	48036151		1972	4150	6122	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036151C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.241G>A	6.37:g.48036151C>T	ENSP00000341914:p.Ala81Thr					PTCHD4_ENST00000339488.4_Missense_Mutation_p.A81T	p.A64T			Q6ZW05	CF138_HUMAN			1	229	-			81					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.190G>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.679259|3.679259	0.68042|0.68042	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.94280|.	-3.39;0.19|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.060335|.	0.64402|.	D|.	0.000005|.	T|T	0.68897|0.68897	0.3051|0.3051	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.993|.	D;D|.	0.80764|.	0.994;0.984|.	T|T	0.69503|0.69503	-0.5128|-0.5128	10|5	0.62326|.	D|.	0.03|.	.|.	18.0082|18.0082	0.89215|0.89215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81;64|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	T|D	81;64|80	ENSP00000341914:A81T;ENSP00000439864:A64T|.	ENSP00000341914:A81T|.	A|G	-|-	1|2	0|0	C6orf138|C6orf138	48144110|48144110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.394000|7.394000	0.79862|0.79862	2.237000|2.237000	0.73441|0.73441	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.652	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	44	0	0	0	1	0	3	44					T	48036151	C	T	48036151	3	4	52	1	0	0	0	0	1	0	0	0	2332	739	26	3	2311	3	C6orf138	6	48036151	Missense_Mutation	SNP	C	TCGA-QR-A70W-01A-12D-A35D-08		48036151	123078916	6	998										
KIAA1958	158405	broad.mit.edu	37	chr9	115421618	115421627	+	Frame_Shift_Del	DEL	CTGGCCACCT	CTGGCCACCT	-													0	0	1	0	NA	0	1	1	0	agagcgacggctcggacttcCtggccacctcgctccatgct							TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr9:115421618_115421627delCTGGCCACCT	ENST00000337530.6	+	4	1716_1725	c.1420_1429delCTGGCCACCT	c.(1420-1431)ctggccacctcgfs	p.LATS474fs	KIAA1958_ENST00000536272.1_Frame_Shift_Del_p.LATS502fs	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	474										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTCGGACTTCCTGGCCACCTCGCTCCATGC	0.543																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1420-1431)cgfs		KIAA1958																																				SO:0001589	frameshift_variant	158405							g.chr9:115421618_115421627delCTGGCCACCT	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1420_1429delCTGGCCACCT	9.37:g.115421618_115421627delCTGGCCACCT	ENSP00000336940:p.Leu474fs					KIAA1958_ENST00000536272.1_Frame_Shift_Del_p.LATS502fs	p.LATS474fs	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1716_1725	+			474					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Frame_Shift_Del	DEL	ENST00000337530.6	37	c.1420_1429delCTGGCCACCT	CCDS35108.1																																																																																				0.543	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		23	55						23	55	---	---	---	---	-	115421627	CTGGCCACCT	-	115421618	7	5	52	1	0	1	0	1	0	0	0	0	8264	680	24	0	1430	0	KIAA1958	9	115421618	Frame_Shift_Del	DEL	CTGGCCACCT	TCGA-QR-A70W-01A-12D-A35D-08		115421618	25791813	7	999										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		18	34	0	0	0	1	0	18	34					C	533874	T	C	533874	3	2	52	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-QR-A70W-01A-12D-A35D-08		533874	134472642	8	1000										
PI3	5266	broad.mit.edu	37	chr20	43804501	43804501	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcgtttcttcttttaacaGttcctgttaaaggtcaagac	7	9	3	1			TCGA-QR-A70W-01A-12D-A35D-08	TCGA-QR-A70W-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c255364-521b-4bba-b407-7d148b987883	21630a1c-4fd2-400a-ba3d-63ecedc1d4cc	g.chr20:43804501G>A	ENST00000243924.3	+	2	126		c.e2-1			NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived						copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCTTTTAACAGTTCCTGTTAA	0.448																																						ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.e2-1		peptidase inhibitor 3, skin-derived							84	81	82					20																	43804501		2203	4300	6503	SO:0001630	splice_region_variant	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804501G>A	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"WAP four-disulfide core domain containing"	8947	protein-coding gene	gene with protein product	"skin-derived antileukoproteinase", "trappin-2"	182257	"protease inhibitor 3, skin-derived (SKALP)"			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.80-1G>A	20.37:g.43804501G>A								NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	126	+		Myeloproliferative disorder(115;0.0122)						E1P618|Q6FG74	Splice_Site	SNP	ENST00000243924.3	37		CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517264	0.27123	.	.	ENSG00000124102	ENST00000243924	.	.	.	3.78	2.81	0.32909	.	.	.	.	.	.	.	.	.	.	.	0.24368	N	0.994842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4187	0.38536	0.0:0.2169:0.7831:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PI3	43237915	0.011000	0.17503	0.030000	0.17652	0.318000	0.28184	0.785000	0.26830	1.153000	0.42468	0.655000	0.94253	.		0.448	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638	Intron	5	75	0	0	0	1	0	5	75					A	43804501	G	A	43804501	5	1	52	1	0	0	0	0	0	0	1	0	11870	1043	36	3	85	3	PI3	20	43804501	Splice_Site	SNP	G	TCGA-QR-A70W-01A-12D-A35D-08		43804501	19221019	9	1001										
SHC1	6464	broad.mit.edu	37	chr1	154942999	154942999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	gggcttggggggcaggagatCcatagttgaggtgaaagagg	20	4	0	4			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr1:154942999C>G	ENST00000368445.5	-	1	218	c.4G>C	c.(4-6)Gat>Cat	p.D2H	SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000448116.2_Missense_Mutation_p.D2H|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368450.1_Intron	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	2				D -> N (in Ref. 3; CAA70977). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCAGGAGATCCATAGTTGAG	0.647																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(4-6)Gat>Cat		SHC (Src homology 2 domain containing) transforming protein 1							26	31	29					1																	154942999		1923	3788	5711	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154942999C>G	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.4G>C	1.37:g.154942999C>G	ENSP00000357430:p.Asp2His					SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Missense_Mutation_p.D2H|SHC1_ENST00000368449.4_5'UTR|SHC1_ENST00000368445.5_Missense_Mutation_p.D2H|SHC1_ENST00000368453.4_Intron	p.D2H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	224	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		2	D -> N (in Ref. 3; CAA70977).				B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.4G>C	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096807	0.76870	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449	T;T;T	0.51071	0.72;0.72;1.21	4.27	4.27	0.50696	.	0.201461	0.38381	N	0.001718	T	0.40297	0.1111	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72982	0.979;0.953	T	0.57159	-0.7859	10	0.72032	D	0.01	.	16.8789	0.86058	0.0:1.0:0.0:0.0	.	2;2	P29353-6;P29353	.;SHC1_HUMAN	H	2	ENSP00000357430:D2H;ENSP00000401303:D2H;ENSP00000357434:D2H	ENSP00000357430:D2H	D	-	1	0	SHC1	153209623	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.693000	0.74582	2.371000	0.80710	0.555000	0.69702	GAT		0.647	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		32	28	0	0	0	1	0	32	28					G	154942999	C	G	154942999	3	3	53	1	0	0	0	0	1	0	0	0	14270	855	30	5	1798	5	SHC1	1	154942999	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08		154942999	94307622	1	1002										
LMAN2L	81562	broad.mit.edu	37	chr2	97373550	97373550	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	tgtcagttcaaacaacttcaAggaaatgacatcatgattat	6	7	4	2			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr2:97373550A>G	ENST00000264963.4	-	7	827	c.805T>C	c.(805-807)Ttg>Ctg	p.L269L	LMAN2L_ENST00000426463.2_Silent_p.L135L|LMAN2L_ENST00000534882.1_Silent_p.L124L|LMAN2L_ENST00000537039.1_Silent_p.L131L|FER1L5_ENST00000457909.1_RNA|LMAN2L_ENST00000377079.4_Silent_p.L280L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	269	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AACAACTTCAAGGAAATGACA	0.418																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(805-807)Ttg>Ctg		lectin, mannose-binding 2-like							104	104	104					2																	97373550		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97373550A>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.805T>C	2.37:g.97373550A>G						LMAN2L_ENST00000537039.1_Silent_p.L131L|LMAN2L_ENST00000534882.1_Silent_p.L124L|LMAN2L_ENST00000426463.2_Silent_p.L135L|LMAN2L_ENST00000377079.4_Silent_p.L280L	p.L269L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN			7	827	-			269			L-type lectin-like.		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.805T>C	CCDS2023.1																																																																																				0.418	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		4	75	0	0	0	1	0	4	75					G	97373550	A	G	97373550	2	3	53	1	0	0	0	0	0	0	0	1	8839	69	3	4		4	LMAN2L	2	97373550	Silent	SNP	A	TCGA-QR-A70X-01A-11D-A35D-08		97373550	145825823	2	1003										
ABCA13	154664	broad.mit.edu	37	chr7	48327637	48327637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	taaggcatctcattttatctGctatacaaggggtcactttg	8	8	3	0	rs376098372		TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr7:48327637G>A	ENST00000435803.1	+	20	8941	c.8917G>A	c.(8917-8919)Gct>Act	p.A2973T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2973					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATTTTATCTGCTATACAAGG	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8917-8919)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 13							175	171	172					7																	48327637		1861	4106	5967	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48327637G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8917G>A	7.37:g.48327637G>A	ENSP00000411096:p.Ala2973Thr						p.A2973T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			20	8941	+			2973					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8917G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234058	0.58886	.	.	ENSG00000179869	ENST00000435803	D	0.87571	-2.27	5.63	3.8	0.43715	.	0.351640	0.20494	N	0.091221	T	0.75831	0.3903	L	0.27053	0.805	0.09310	N	0.999998	P;B	0.40731	0.728;0.147	B;B	0.33690	0.168;0.035	T	0.70252	-0.4923	10	0.87932	D	0	.	8.1827	0.31319	0.0875:0.1683:0.7442:0.0	.	675;2973	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	2973	ENSP00000411096:A2973T	ENSP00000411096:A2973T	A	+	1	0	ABCA13	48298183	0.001000	0.12720	0.010000	0.14722	0.609000	0.37215	0.607000	0.24209	1.357000	0.45904	0.591000	0.81541	GCT		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	89	0	0	0	1	0	4	89					A	48327637	G	A	48327637	3	1	53	1	0	0	0	0	1	0	0	0	31	1319	46	3	8824	3	ABCA13	7	48327637	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		48327637	110811026	3	1004										
QSOX2	169714	broad.mit.edu	37	chr9	139118701	139118701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	atgcagtccagagctgcgacGcgaatggcactggcccagtc	13	13	0	1			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr9:139118701G>A	ENST00000358701.5	-	2	385	c.348C>T	c.(346-348)cgC>cgT	p.R116R		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	116	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGCTGCGACGCGAATGGCAC	0.607											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(346-348)cgC>cgT		quiescin Q6 sulfhydryl oxidase 2							204	169	181					9																	139118701		2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139118701G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.348C>T	9.37:g.139118701G>A			OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1646		p.R116R	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	2	385	-		Myeloproliferative disorder(178;0.0511)	116			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.348C>T	CCDS35178.1																																																																																				0.607	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		17	35	0	0	0	1	0	17	35					A	139118701	G	A	139118701	2	1	53	1	0	0	0	0	0	0	0	1	12884	1074	38	1		1	QSOX2	9	139118701	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		139118701	2094730	4	1005										
ANK3	288	broad.mit.edu	37	chr10	61833944	61833944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	gcatgcctttgcttaaaaccCgattgtggtcatcttcttca	7	11	4	0			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr10:61833944C>T	ENST00000280772.2	-	37	6886	c.6695G>A	c.(6694-6696)cGg>cAg	p.R2232Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2232					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTAAAACCCGATTGTGGTC	0.413																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(6694-6696)cGg>cAg		ankyrin 3, node of Ranvier (ankyrin G)							212	197	202					10																	61833944		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833944C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6695G>A	10.37:g.61833944C>T	ENSP00000280772:p.Arg2232Gln					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.R2232Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	6886	-			2232					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6695G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527127	0.27299	.	.	ENSG00000151150	ENST00000280772	T	0.62639	0.01	6.05	4.2	0.49525	.	0.000000	0.37053	N	0.002280	T	0.49525	0.1562	L	0.36672	1.1	0.54753	D	0.999985	B	0.32128	0.357	B	0.23275	0.045	T	0.47674	-0.9099	10	0.49607	T	0.09	.	13.4971	0.61432	0.0:0.8722:0.0:0.1278	.	2232	Q12955	ANK3_HUMAN	Q	2232	ENSP00000280772:R2232Q	ENSP00000280772:R2232Q	R	-	2	0	ANK3	61503950	0.028000	0.19301	0.023000	0.16930	0.823000	0.46562	1.390000	0.34464	0.888000	0.36160	0.643000	0.83706	CGG		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	127	0	0	0	1	0	6	127					T	61833944	C	T	61833944	3	4	53	1	0	0	0	0	1	0	0	0	622	652	23	2	6779	2	ANK3	10	61833944	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08		61833944	73700803	5	1006										
C10orf91	170393	broad.mit.edu	37	chr10	134261549	134261549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	tagtcagggtttcaggaatgCggccttcgaagcctgaagcg	14	9	2	1			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr10:134261549C>T	ENST00000392630.3	+	3	483	c.422C>T	c.(421-423)gCg>gTg	p.A141V	C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	141										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TTCAGGAATGCGGCCTTCGAA	0.662																																						ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(421-423)gCg>gTg		chromosome 10 open reading frame 91							56	70	65					10																	134261549		2177	4281	6458	SO:0001583	missense	170393							g.chr10:134261549C>T	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.422C>T	10.37:g.134261549C>T	ENSP00000376407:p.Ala141Val					C10orf91_ENST00000321248.2_Missense_Mutation_p.A141V	p.A141V	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	483	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	141					Q8N0T7	Missense_Mutation	SNP	ENST00000392630.3	37	c.422C>T	CCDS7668.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580944	0.28180	.	.	ENSG00000180066	ENST00000392630;ENST00000321248	T;T	0.07444	3.19;3.19	1.8	0.838	0.18902	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.49862	0.929	B	0.32090	0.14	T	0.40776	-0.9545	8	.	.	.	.	3.6076	0.08049	0.0:0.739:0.0:0.261	.	141	Q5T1B1	CJ091_HUMAN	V	141	ENSP00000376407:A141V;ENSP00000323241:A141V	.	A	+	2	0	C10orf91	134111539	0.006000	0.16342	0.088000	0.20740	0.017000	0.09413	-0.406000	0.07187	0.289000	0.22422	0.313000	0.20887	GCG		0.662	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		4	91	0	0	0	1	0	4	91					T	134261549	C	T	134261549	3	4	53	1	0	0	0	0	1	0	0	0	1624	768	27	1	432	1	C10orf91	10	134261549	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08	72427605	134261549	1273198	6	1007										
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	agccccccttggagcccccaGaagagccacagccccctttg	9	19	0	2	rs201819023	byFrequency	TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677													C|||	3	0.000599042	8e-04	0	5008	,	,		8750	0.002		0	False		,,,				2504	0					ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(214-216)tCt>tGt		keratin associated protein 5-1							69	86	81					11																	1606265		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1606265G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.215C>G	11.37:g.1606265G>C	ENSP00000371606:p.Ser72Cys					KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.S72C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	248	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	72			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.215C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	7.664	0.685544	0.14973	.	.	ENSG00000205869	ENST00000382171	T	0.04119	3.7	3.53	3.53	0.40419	.	.	.	.	.	T	0.01558	0.0050	N	0.00188	-1.89	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.45293	-0.9271	9	0.72032	D	0.01	.	11.0665	0.47979	0.0:0.8095:0.1905:0.0	.	72	Q6L8H4	KRA51_HUMAN	C	72	ENSP00000371606:S72C	ENSP00000371606:S72C	S	-	2	0	KRTAP5-1	1562841	0.000000	0.05858	0.991000	0.47740	0.354000	0.29330	-0.178000	0.09782	0.634000	0.30469	-0.401000	0.06369	TCT		0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		3	103	0	0	0	1	0	3	103					C	1606265	G	C	1606265	3	2	53	1	0	0	0	0	1	0	0	0	8558	942	33	5	625	5	KRTAP5-1	11	1606265	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		1606265	133400251	7	1008										
SLC22A11	55867	broad.mit.edu	37	chr11	64323500	64323500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	ctcgaagctcttggagcaagCcggaggcgtgggcctcttcc	14	13	2	0			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr11:64323500C>T	ENST00000301891.4	+	1	403	c.29C>T	c.(28-30)gCc>gTc	p.A10V	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	10					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TTGGAGCAAGCCGGAGGCGTG	0.592											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(28-30)gCc>gTc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						68	61	64					11																	64323500		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64323500C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.29C>T	11.37:g.64323500C>T	ENSP00000301891:p.Ala10Val		OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1075	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.A10V|SLC22A11_ENST00000377585.3_Missense_Mutation_p.A10V	p.A10V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			1	403	+			10					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.29C>T	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	0.334	-0.954636	0.02285	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.39592	1.07;1.07;1.07	3.62	-1.65	0.08291	.	0.411149	0.23506	N	0.047444	T	0.10551	0.0258	N	0.00683	-1.26	0.09310	N	1	B;B;B;B	0.25904	0.046;0.01;0.002;0.137	B;B;B;B	0.31751	0.027;0.007;0.007;0.135	T	0.41502	-0.9505	10	0.02654	T	1	.	8.2321	0.31603	0.0:0.3289:0.0:0.6711	.	10;10;10;10	Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6	.;.;S22AB_HUMAN;.	V	10	ENSP00000301891:A10V;ENSP00000366809:A10V;ENSP00000366804:A10V	ENSP00000301891:A10V	A	+	2	0	SLC22A11	64080076	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.239000	0.18023	-0.200000	0.10300	-0.490000	0.04691	GCC		0.592	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		3	29	0	0	0	1	0	3	29					T	64323500	C	T	64323500	3	4	53	1	0	0	0	0	1	0	0	0	14442	739	26	3	31	3	SLC22A11	11	64323500	Missense_Mutation	SNP	C	TCGA-QR-A70X-01A-11D-A35D-08	62717235	64323500	70683016	8	1009										
KRT8	3856	broad.mit.edu	37	chr12	53295659	53295659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	gttgctcacttgttcttgaaGtcctccaccagcccctgcat	7	15	2	1			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr12:53295659G>A	ENST00000552551.1	-	3	954	c.522C>T	c.(520-522)gaC>gaT	p.D174D	KRT8_ENST00000293308.6_Silent_p.D174D|KRT8_ENST00000552150.1_Silent_p.D202D|KRT8_ENST00000546897.1_Silent_p.D174D			P05787	K2C8_HUMAN	keratin 8	174	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TGTTCTTGAAGTCCTCCACCA	0.592																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(520-522)gaC>gaT		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						148	143	145					12																	53295659		2203	4300	6503	SO:0001819	synonymous_variant	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53295659G>A	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.522C>T	12.37:g.53295659G>A						KRT8_ENST00000552150.1_Silent_p.D202D|KRT8_ENST00000293308.6_Silent_p.D174D|KRT8_ENST00000546897.1_Silent_p.D174D	p.D174D			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	3	954	-			174			Coil 1B.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Silent	SNP	ENST00000552551.1	37	c.522C>T	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828336	0.71143	.	.	ENSG00000170421	ENST00000547176	D	0.81996	-1.56	4.53	3.64	0.41730	.	.	.	.	.	D	0.87059	0.6083	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.87587	0.2488	6	0.62326	D	0.03	.	12.1438	0.54012	0.0871:0.0:0.9129:0.0	.	.	.	.	F	25	ENSP00000449010:L25F	ENSP00000449010:L25F	L	-	1	0	KRT8	51581926	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.986000	0.29590	1.206000	0.43276	0.455000	0.32223	CTT		0.592	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		13	18	0	0	0	1	0	13	18					A	53295659	G	A	53295659	2	1	53	1	0	0	0	0	0	0	0	1	8493	1020	36	3		3	KRT8	12	53295659	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		53295659	80556236	9	1010										
TIGD7	91151	broad.mit.edu	37	chr16	3350052	3350052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	tacttgcctgagaattttctGgcattgacttccaaaagagg	9	8	1	3			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr16:3350052G>A	ENST00000396862.1	-	2	2391	c.563C>T	c.(562-564)cCa>cTa	p.P188L	TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	188	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						agaattttctggcattgactt	0.408																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(562-564)cCa>cTa		tigger transposable element derived 7							144	144	144					16																	3350052		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350052G>A	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.563C>T	16.37:g.3350052G>A	ENSP00000380071:p.Pro188Leu					TIGD7_ENST00000268674.2_Missense_Mutation_p.P188L	p.P188L	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	2391	-			188			DDE.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.563C>T	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391729	0.62066	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.39997	1.05;1.05	5.22	5.22	0.72569	.	0.198530	0.24247	U	0.040206	T	0.56031	0.1958	M	0.68317	2.08	0.41841	D	0.990123	P	0.51537	0.946	P	0.55391	0.775	T	0.57063	-0.7875	10	0.46703	T	0.11	.	14.2675	0.66129	0.0:0.0:1.0:0.0	.	188	Q6NT04	TIGD7_HUMAN	L	188	ENSP00000380071:P188L;ENSP00000268674:P188L	ENSP00000268674:P188L	P	-	2	0	TIGD7	3290053	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.633000	0.46519	2.442000	0.82660	0.655000	0.94253	CCA		0.408	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		7	160	0	0	0	1	0	7	160					A	3350052	G	A	3350052	3	1	53	1	0	0	0	0	1	0	0	0	15898	1348	47	3	1090	3	TIGD7	16	3350052	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		3350052	87004701	10	1011										
ATP9B	374868	broad.mit.edu	37	chr18	76886309	76886309	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	tgacacgggaagcaattgatGaatttcggcgttttcagcgt	12	7	1	3			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr18:76886309G>C	ENST00000426216.2	+	5	618	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.E201Q|ATP9B_ENST00000591464.1_3'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	201					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AGCAATTGATGAATTTCGGCG	0.348																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(601-603)Gaa>Caa		ATPase, class II, type 9B							177	151	160					18																	76886309		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76886309G>C	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.601G>C	18.37:g.76886309G>C	ENSP00000398076:p.Glu201Gln					ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.E201Q	p.E201Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	5	618	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	201					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.601G>C	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959612	0.74016	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671	T;T	0.77098	-1.07;-1.07	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.65975	2.015	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.68621	0.959;0.931	D	0.87931	0.2710	10	0.87932	D	0	.	19.164	0.93546	0.0:0.0:1.0:0.0	.	201;201	O43861;O43861-2	ATP9B_HUMAN;.	Q	124;201;201	ENSP00000398076:E201Q;ENSP00000304500:E201Q	ENSP00000304500:E201Q	E	+	1	0	ATP9B	74987297	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	8.533000	0.90617	2.703000	0.92315	0.591000	0.81541	GAA		0.348	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		5	79	0	0	0	1	0	5	79					C	76886309	G	C	76886309	3	2	53	1	0	0	0	0	1	0	0	0	1199	1291	45	5	619	5	ATP9B	18	76886309	Missense_Mutation	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		76886309	1190939	11	1012										
ANO8	57719	broad.mit.edu	37	chr19	17444305	17444305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	1.27272727272727	4.66666666666667	0	0.333333333333333	1	0	cggacttgcacgatgagctcGggaatgcccacgcggatgtg	15	11	0	1			TCGA-QR-A70X-01A-11D-A35D-08	TCGA-QR-A70X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9741731b-8f71-465d-9cfb-9e54e678c9a4	e8eec443-4a55-41f4-8ed4-c77c8bc2d3e1	g.chr19:17444305G>A	ENST00000159087.4	-	3	434	c.276C>T	c.(274-276)ccC>ccT	p.P92P	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	92					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGATGAGCTCGGGAATGCCCA	0.652																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(274-276)ccC>ccT		anoctamin 8							131	120	124					19																	17444305		2203	4300	6503	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17444305G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.276C>T	19.37:g.17444305G>A							p.P92P	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			3	434	-			92					A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.276C>T	CCDS32949.1																																																																																				0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		4	92	0	0	0	1	0	4	92					A	17444305	G	A	17444305	2	1	53	1	0	0	0	0	0	0	0	1	703	1103	39	2		2	ANO8	19	17444305	Silent	SNP	G	TCGA-QR-A70X-01A-11D-A35D-08		17444305	41684678	12	1013										
SAMD11	148398	broad.mit.edu	37	chr1	865539	865539	+	Frame_Shift_Del	DEL	G	G	-													0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	cctcctgccccaccagaaccGggggcggctggcagacaaga							TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:865539delG	ENST00000342066.3	+	3	160	c.77delG	c.(76-78)cggfs	p.R26fs	AL645608.1_ENST00000598827.1_Intron	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	26					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		caccAGAACCGGGGGCGGCTG	0.672																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(76-78)cgfs		sterile alpha motif domain containing 11							6	6	6					1																	865539		2116	4161	6277	SO:0001589	frameshift_variant	148398					nucleus		g.chr1:865539delG	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"Sterile alpha motif (SAM) domain containing"	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.77delG	1.37:g.865539delG	ENSP00000342313:p.Arg26fs					AL645608.1_ENST00000598827.1_Intron	p.R26fs	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	3	160	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	26					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Frame_Shift_Del	DEL	ENST00000342066.3	37	c.77delG	CCDS2.2																																																																																				0.672	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		2	4						2	4	---	---	---	---	-	865539	G	-	865539	7	5	54	1	0	1	0	1	0	0	0	0	13816	1116	39	0	83	0	SAMD11	1	865539	Frame_Shift_Del	DEL	G	TCGA-QR-A7IN-01A-11D-A35D-08		865539	248385082	1	1014										
AHDC1	27245	broad.mit.edu	37	chr1	27876195	27876195	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	tgtagtagctgccacggcctGaggctccactctccagccca	10	16	1	1			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr1:27876195G>A	ENST00000247087.5	-	5	3028	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	AHDC1_ENST00000374011.2_Missense_Mutation_p.S811L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	811	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCACGGCCTGAGGCTCCACT	0.657																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2431-2433)tCa>tTa		AT hook, DNA binding motif, containing 1							40	45	44					1																	27876195		2188	4274	6462	SO:0001583	missense	27245						DNA binding	g.chr1:27876195G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2432C>T	1.37:g.27876195G>A	ENSP00000247087:p.Ser811Leu					AHDC1_ENST00000247087.5_Missense_Mutation_p.S811L|AHDC1_ENST00000482400.2_Intron	p.S811L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	811			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2432C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048610	0.36181	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.45668	0.89;0.89	5.88	5.88	0.94601	.	0.556823	0.15917	N	0.238281	T	0.33381	0.0861	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.19666	0.026	T	0.34850	-0.9812	10	0.72032	D	0.01	-3.4164	19.0137	0.92884	0.0:0.0:1.0:0.0	.	811	Q5TGY3	AHDC1_HUMAN	L	811	ENSP00000247087:S811L;ENSP00000363123:S811L	ENSP00000247087:S811L	S	-	2	0	AHDC1	27748782	0.894000	0.30519	0.750000	0.31169	0.919000	0.55068	4.694000	0.61760	2.782000	0.95742	0.655000	0.94253	TCA		0.657	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			27	23	0	0	0	1	0	27	23					A	27876195	G	A	27876195	3	1	54	1	0	0	0	0	1	0	0	0	412	1294	45	3	2383	3	AHDC1	1	27876195	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	27010656	27876195	221374426	2	1015										
EPAS1	2034	broad.mit.edu	37	chr2	46607403	46607403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ggacttggagacactggcacCctatatccccatggacgggg	13	12	0	1			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr2:46607403C>T	ENST00000263734.3	+	12	2102	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTGGCACCCTATATCCCC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)cCc>cTc		endothelial PAS domain protein 1							85	93	91					2																	46607403		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607403C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1592C>T	2.37:g.46607403C>T	ENSP00000263734:p.Pro531Leu						p.P531L	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2102	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1592C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063493	0.93898	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	L	531	ENSP00000263734:P531L	ENSP00000263734:P531L	P	+	2	0	EPAS1	46460907	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		51	44	0	0	0	1	0	51	44					T	46607403	C	T	46607403	3	4	54	1	0	0	0	0	1	0	0	0	5150	623	22	3	1638	3	EPAS1	2	46607403	Missense_Mutation	SNP	C	TCGA-QR-A7IN-01A-11D-A35D-08		46607403	196591970	3	1016										
OSBPL6	114880	broad.mit.edu	37	chr2	179196280	179196280	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	gggtgtttggttcttgcagcGtttttttgtcctggataatg	13	5	1	0			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr2:179196280G>A	ENST00000190611.4	+	6	696	c.320G>A	c.(319-321)cGt>cAt	p.R107H	OSBPL6_ENST00000409631.1_Splice_Site_p.R107H|OSBPL6_ENST00000392505.2_Splice_Site_p.R107H|OSBPL6_ENST00000359685.3_Splice_Site_p.R107H|OSBPL6_ENST00000409045.3_Splice_Site_p.R107H|OSBPL6_ENST00000357080.4_Splice_Site_p.R107H|OSBPL6_ENST00000315022.2_Splice_Site_p.R86H|OSBPL6_ENST00000477097.1_3'UTR	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTC	0.363																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.e6-1		oxysterol binding protein-like 6							234	234	234					2																	179196280		2203	4300	6503	SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179196280G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.319-1G>A	2.37:g.179196280G>A						OSBPL6_ENST00000409631.1_Splice_Site_p.R107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000392505.2_Splice_Site_p.R107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.R107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.R107_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.R86_splice	p.R107_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		6	696	+			107			PH.		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	SNP	ENST00000190611.4	37	c.318_splice	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507353	0.96386	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.43688	0.94;1.01;1.29;0.98;0.94;1.01;1.0	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	H	0.96489	3.83	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.998;0.991;0.996	D	0.84732	0.0746	10	0.87932	D	0	-9.5614	19.5679	0.95403	0.0:0.0:1.0:0.0	.	107;86;107;107;107;107	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	H	107;107;107;107;107;107;86	ENSP00000376293:R107H;ENSP00000352713:R107H;ENSP00000349591:R107H;ENSP00000387248:R107H;ENSP00000190611:R107H;ENSP00000386885:R107H;ENSP00000318723:R86H	ENSP00000190611:R107H	R	+	2	0	OSBPL6	178904526	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.781000	0.99029	2.611000	0.88343	0.655000	0.94253	CGT		0.363	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Missense_Mutation	4	108	0	0	0	1	0	4	108					A	179196280	G	A	179196280	5	1	54	1	0	0	0	0	0	0	1	0	11281	1159	40	1	377	1	OSBPL6	2	179196280	Splice_Site	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	132588877	179196280	64003093	4	1017										
GPR128	84873	broad.mit.edu	37	chr3	100373746	100373746	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	tatcaatgttgattttcaacCtcctctttgtgtttggaatt	6	7	3	1			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr3:100373746C>G	ENST00000273352.3	+	12	1715	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L188V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	483					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GATTTTCAACCTCCTCTTTGT	0.323																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1447-1449)Ctc>Gtc		G protein-coupled receptor 128							106	101	103					3																	100373746		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100373746C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1447C>G	3.37:g.100373746C>G	ENSP00000273352:p.Leu483Val					GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L188V	p.L483V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			12	1715	+			483					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.1447C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807928	0.50421	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.41065	1.01;1.01	5.48	1.24	0.21308	GPCR, family 2-like (1);	0.398747	0.22258	N	0.062458	T	0.39036	0.1063	L	0.61218	1.895	0.28574	N	0.910462	B;P	0.49185	0.095;0.92	B;P	0.48089	0.2;0.566	T	0.37709	-0.9694	10	0.62326	D	0.03	.	1.3738	0.02216	0.222:0.4554:0.1379:0.1847	.	188;483	E9PHI0;Q96K78	.;GP128_HUMAN	V	483;188	ENSP00000273352:L483V;ENSP00000419788:L188V	ENSP00000273352:L483V	L	+	1	0	GPR128	101856436	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	1.583000	0.36579	0.666000	0.31087	-0.175000	0.13238	CTC		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			20	25	0	0	0	1	0	20	25					G	100373746	C	G	100373746	3	3	54	1	0	0	0	0	1	0	0	0	6641	681	24	5	1493	5	GPR128	3	100373746	Missense_Mutation	SNP	C	TCGA-QR-A7IN-01A-11D-A35D-08		100373746	97648684	5	1018										
CHRNA9	55584	broad.mit.edu	37	chr4	40356467	40356467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ggtggcgaaagtcatagaccGattcttcatgtggatttttt	11	6	3	1			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr4:40356467G>A	ENST00000310169.2	+	5	1509	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	457					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GTCATAGACCGATTCTTCATG	0.433																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(1369-1371)cGa>cAa		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						182	162	169					4																	40356467		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40356467G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	14079	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 9 (neuronal)"	605116	"cholinergic receptor, nicotinic, alpha polypeptide 9"				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1370G>A	4.37:g.40356467G>A	ENSP00000312663:p.Arg457Gln						p.R457Q	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			5	1509	+			457					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.1370G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437160	0.96168	.	.	ENSG00000174343	ENST00000310169	D	0.88818	-2.43	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.047328	0.85682	D	0.000000	D	0.96178	0.8754	H	0.97103	3.94	0.80722	D	1	D	0.67145	0.996	P	0.60173	0.87	D	0.97509	1.0065	10	0.87932	D	0	.	19.0761	0.93163	0.0:0.0:1.0:0.0	.	457	Q9UGM1	ACHA9_HUMAN	Q	457	ENSP00000312663:R457Q	ENSP00000312663:R457Q	R	+	2	0	CHRNA9	40051224	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.476000	0.97823	2.527000	0.85204	0.455000	0.32223	CGA		0.433	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			22	72	0	0	0	1	0	22	72					A	40356467	G	A	40356467	3	1	54	1	0	0	0	0	1	0	0	0	3389	1058	37	2	1388	2	CHRNA9	4	40356467	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		40356467	150797809	6	1019										
ADCY2	108	broad.mit.edu	37	chr5	7766829	7766829	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	agtgactcagaggaaacaatCcctccaactgccaacacaac	6	14	1	2			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr5:7766829C>A	ENST00000338316.4	+	17	2213	c.2124C>A	c.(2122-2124)atC>atA	p.I708I	ADCY2_ENST00000537121.1_Silent_p.I528I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	708					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGGAAACAATCCCTCCAACTG	0.393																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2122-2124)atC>atA		adenylate cyclase 2 (brain)							118	115	116					5																	7766829		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7766829C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2124C>A	5.37:g.7766829C>A						ADCY2_ENST00000537121.1_Silent_p.I528I	p.I708I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			17	2213	+			708					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2124C>A	CCDS3872.2																																																																																				0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		37	35	1	0	1.90571e-15	1	2.06452e-15	37	35					A	7766829	C	A	7766829	2	1	54	1	0	0	0	0	0	0	0	1	294	845	30	5		5	ADCY2	5	7766829	Silent	SNP	C	TCGA-QR-A7IN-01A-11D-A35D-08		7766829	173148431	7	1020										
PRDM9	56979	broad.mit.edu	37	chr5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ggagtgtgggcggggctttcGcgataagtcacacctcctca	14	11	2	0			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Missense(1)	p.R758H(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2272-2274)cGc>cAc		PR domain containing 9							61	86	78					5																	23527470		2108	4293	6401	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527470G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2273G>A	5.37:g.23527470G>A	ENSP00000296682:p.Arg758His	HNSCC(3;0.000094)					p.R758H	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2455	+			758					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2273G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872598	0.17322	.	.	ENSG00000164256	ENST00000296682	T	0.36520	1.25	2.65	-0.287	0.12858	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	L	0.38953	1.18	0.09310	N	1	P	0.39116	0.66	B	0.32022	0.139	T	0.08027	-1.0742	9	0.59425	D	0.04	.	13.6102	0.62074	0.0:0.7866:0.2133:0.0	.	758	Q9NQV7	PRDM9_HUMAN	H	758	ENSP00000296682:R758H	ENSP00000296682:R758H	R	+	2	0	PRDM9	23563227	0.000000	0.05858	0.027000	0.17364	0.011000	0.07611	-0.776000	0.04674	-0.153000	0.11137	0.484000	0.47621	CGC		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	84	0	0	0	1	0	5	84					A	23527470	G	A	23527470	3	1	54	1	0	0	0	0	1	0	0	0	12463	1087	38	1	2311	1	PRDM9	5	23527470	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	15760641	23527470	157387790	8	1021										
MDC1	9656	broad.mit.edu	37	chr6	30672358	30672358	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	gtggaaggctggagctcaggGgctgcgggcacaactgtttc	17	9	1	0			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr6:30672358G>T	ENST00000376406.3	-	10	5249	c.4602C>A	c.(4600-4602)gcC>gcA	p.A1534A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1534	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGAGCTCAGGGGCTGCGGGCA	0.592								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4600-4602)gcC>gcA	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							120	138	132					6																	30672358		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672358G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4602C>A	6.37:g.30672358G>T						MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A1270A	p.A1534A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5249	-			1534			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.4602C>A	CCDS34384.1																																																																																				0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		27	138	1	0	6.32553e-13	1	6.57855e-13	27	138					T	30672358	G	T	30672358	2	4	54	1	0	0	0	0	0	0	0	1	9403	1219	43	5		5	MDC1	6	30672358	Silent	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		30672358	140442709	9	1022										
ATAD2	29028	broad.mit.edu	37	chr8	124382194	124382194	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	tcatcatcatcgtcatcatcAtcatcatcttcatcatcttc	1	14	12	0	rs140021846		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr8:124382194A>G	ENST00000287394.5	-	7	905	c.798T>C	c.(796-798)gaT>gaC	p.D266D	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	266	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cgtcatcatcatcatcatctt	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(796-798)gaT>gaC		ATPase family, AAA domain containing 2							225	174	191					8																	124382194		2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382194A>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.798T>C	8.37:g.124382194A>G						ATAD2_ENST00000521903.1_5'UTR	p.D266D	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	905	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		266			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.798T>C	CCDS6343.1																																																																																				0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		5	31	0	0	0	1	0	5	31					G	124382194	A	G	124382194	2	3	54	1	0	0	0	0	0	0	0	1	1071	214	8	4		4	ATAD2	8	124382194	Silent	SNP	A	TCGA-QR-A7IN-01A-11D-A35D-08		124382194	21981828	10	1023										
PSMC3	5702	broad.mit.edu	37	chr11	47444499	47444499	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	caaacttctccttgtggttcAttggcaagacaatggcctcc	8	12	2	1			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr11:47444499A>T	ENST00000298852.3	-	7	774	c.617T>A	c.(616-618)aTg>aAg	p.M206K	PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K|PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGTGGTTCATTGGCAAGAC	0.597																																						ENST00000298852.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17						c.(616-618)aTg>aAg		proteasome (prosome, macropain) 26S subunit, ATPase, 3							102	102	102					11																	47444499		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47444499A>T	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.617T>A	11.37:g.47444499A>T	ENSP00000298852:p.Met206Lys					PSMC3_ENST00000602866.1_Missense_Mutation_p.M190K|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164K	p.M206K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	7	774	-			206					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.617T>A	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598424	0.87055	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906	D;D	0.94613	-3.47;-3.47	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.91016	0.7174	N	0.16307	0.4	0.80722	D	1	P;P	0.49090	0.919;0.856	P;B	0.46543	0.52;0.424	D	0.92694	0.6169	10	0.87932	D	0	-47.1287	15.1702	0.72865	1.0:0.0:0.0:0.0	.	164;206	E9PM69;P17980	.;PRS6A_HUMAN	K	206;164;150;150;171;171;171	ENSP00000298852:M206K;ENSP00000433097:M164K	ENSP00000298852:M206K	M	-	2	0	PSMC3	47401075	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.339000	0.96797	1.981000	0.57761	0.533000	0.62120	ATG		0.597	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		4	90	0	0	0	1	0	4	90					T	47444499	A	T	47444499	3	4	54	1	0	0	0	0	1	0	0	0	12687	217	8	5	726	5	PSMC3	11	47444499	Missense_Mutation	SNP	A	TCGA-QR-A7IN-01A-11D-A35D-08		47444499	87562017	11	1024										
SLC38A6	145389	broad.mit.edu	37	chr14	61486268	61486268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ttcttttacagttggtggtgGcaggcaccataataattcag	10	7	2	0			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr14:61486268G>A	ENST00000267488.4	+	5	489	c.373G>A	c.(373-375)Gca>Aca	p.A125T	SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000354886.2_Missense_Mutation_p.A125T	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	125					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTTGGTGGTGGCAGGCACCAT	0.308																																						ENST00000354886.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(373-375)Gca>Aca		solute carrier family 38, member 6							139	136	137					14																	61486268		2203	4300	6503	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61486268G>A	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.373G>A	14.37:g.61486268G>A	ENSP00000267488:p.Ala125Thr					SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102T|SLC38A6_ENST00000267488.4_Missense_Mutation_p.A125T	p.A125T	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	5	537	+			125					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.373G>A	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933151	0.73442	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27	5.87	5.87	0.94306	.	0.050714	0.85682	D	0.000000	T	0.17746	0.0426	M	0.79693	2.465	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.977;0.979	T	0.00026	-1.2314	10	0.51188	T	0.08	-2.5112	19.2108	0.93753	0.0:0.0:1.0:0.0	.	102;125;125	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	T	125;125;120;102;71	ENSP00000346959:A125T;ENSP00000267488:A125T;ENSP00000395851:A120T;ENSP00000413863:A102T;ENSP00000451244:A71T	ENSP00000267488:A125T	A	+	1	0	SLC38A6	60556021	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.161000	0.71868	2.778000	0.95560	0.650000	0.86243	GCA		0.308	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			5	71	0	0	0	1	0	5	71					A	61486268	G	A	61486268	3	1	54	1	0	0	0	0	1	0	0	0	14608	1203	42	3	391	3	SLC38A6	14	61486268	Missense_Mutation	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		61486268	45863272	12	1025										
SRRM2	23524	broad.mit.edu	37	chr16	2815446	2815446	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	cccagacgaagcagatcaggTtcatcaagcaaaggcagagg	12	10	3	3			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr16:2815446T>A	ENST00000301740.8	+	11	5466	c.4917T>A	c.(4915-4917)ggT>ggA	p.G1639G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1639	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGATCAGGTTCATCAAGCA	0.562																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4915-4917)ggT>ggA		serine/arginine repetitive matrix 2							67	67	67					16																	2815446		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815446T>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4917T>A	16.37:g.2815446T>A							p.G1639G	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5466	+			1639			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.4917T>A	CCDS32373.1																																																																																				0.562	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			13	15	0	0	0	1	0	13	15					A	2815446	T	A	2815446	2	1	54	1	0	0	0	0	0	0	0	1	15168	1712	60	5		5	SRRM2	16	2815446	Silent	SNP	T	TCGA-QR-A7IN-01A-11D-A35D-08		2815446	87539307	13	1026										
IL4R	3566	broad.mit.edu	37	chr16	27357864	27357864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ctgctgacctggagcaacccGtatccccctgacaattacct	7	16	0	2			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr16:27357864G>A	ENST00000395762.2	+	6	697	c.438G>A	c.(436-438)ccG>ccA	p.P146P	IL4R_ENST00000380922.3_Silent_p.P131P|IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P|IL4R_ENST00000170630.2_Silent_p.P146P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	146	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGCAACCCGTATCCCCCTG	0.522																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(436-438)ccG>ccA		interleukin 4 receptor							113	103	106					16																	27357864		2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27357864G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.438G>A	16.37:g.27357864G>A						IL4R_ENST00000449195.1_Silent_p.P146P|IL4R_ENST00000543915.2_Silent_p.P146P|IL4R_ENST00000170630.2_Silent_p.P146P|IL4R_ENST00000380922.3_Silent_p.P131P	p.P146P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			6	697	+			146			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.438G>A	CCDS10629.1																																																																																				0.522	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			3	51	0	0	0	1	0	3	51					A	27357864	G	A	27357864	2	1	54	1	0	0	0	0	0	0	0	1	7698	1132	40	1		1	IL4R	16	27357864	Silent	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08	24542418	27357864	62996889	14	1027										
DNAJC7	7266	broad.mit.edu	37	chr17	40141571	40141571	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ggtggaatccattcgtagaaTgtcactgcaatagtcagaaa	10	7	2	2			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr17:40141571T>C	ENST00000457167.4	-	7	840	c.604A>G	c.(604-606)Att>Gtt	p.I202V	DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V|DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	202					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATTCGTAGAATGTCACTGCAA	0.428																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(604-606)Att>Gtt		DnaJ (Hsp40) homolog, subfamily C, member 7							167	160	163					17																	40141571		1983	4168	6151	SO:0001583	missense	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40141571T>C	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.604A>G	17.37:g.40141571T>C	ENSP00000406463:p.Ile202Val					DNAJC7_ENST00000316603.7_Missense_Mutation_p.I146V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.I146V	p.I202V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			7	840	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	202					Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	c.604A>G	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	T	9.482	1.098382	0.20552	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.74842	-0.67;-0.88;-0.88	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	N	0.25144	0.715	0.80722	D	1	B;B;B	0.15930	0.015;0.011;0.008	B;B;B	0.25614	0.062;0.028;0.028	T	0.55611	-0.8114	10	0.02654	T	1	-2.604	15.4721	0.75446	0.0:0.0:0.0:1.0	.	191;146;202	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	V	202;146;146	ENSP00000406463:I202V;ENSP00000394327:I146V;ENSP00000313311:I146V	ENSP00000313311:I146V	I	-	1	0	DNAJC7	37395097	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.698000	0.84413	2.071000	0.62044	0.379000	0.24179	ATT		0.428	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			24	75	0	0	0	1	0	24	75					C	40141571	T	C	40141571	3	2	54	1	0	0	0	0	1	0	0	0	4654	1464	51	4	912	4	DNAJC7	17	40141571	Missense_Mutation	SNP	T	TCGA-QR-A7IN-01A-11D-A35D-08		40141571	41053639	15	1028										
CYP4F8	11283	broad.mit.edu	37	chr19	15739116	15739116	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	ttgggtgtttccttagggacGacctggcccagttgcccttc	12	12	0	0			TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chr19:15739116G>A	ENST00000441682.2	+	0	1181							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTAGGGACGACCTGGCCCA	0.607																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							84	91	89					19																	15739116		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739116G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739116G>A										P98187	CP4F8_HUMAN			0	1181	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	19.19	3.778874	0.70107	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	3.45	0.39498	.	0.063242	0.64402	U	0.000010	T	0.65729	0.2719	.	.	.	0.39201	D	0.963147	D;D	0.60160	0.973;0.987	P;P	0.54401	0.751;0.751	T	0.77958	-0.2392	7	0.66056	D	0.02	.	12.4524	0.55684	0.0:0.0:1.0:0.0	.	186;374	B4DU85;P98187	.;CP4F8_HUMAN	N	373;186;223	.	ENSP00000314398:D186N	D	+	1	0	CYP4F8	15600116	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.260000	0.89857	1.753000	0.51906	0.543000	0.68304	GAC		0.607	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		35	47	0	0	0	1	0	35	47					A	15739116	G	A	15739116	1	1	54	0	1	0	0	0	0	0	0	0	4191	1058	37	2		2	CYP4F8	19	15739116	RNA	SNP	G	TCGA-QR-A7IN-01A-11D-A35D-08		15739116	43389867	16	1029										
ZXDA	7789	broad.mit.edu	37	chrX	57935103	57935103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.724444444444444	0	0.815	1	1	0	gtaagttcactgctgggtgtAagagaatttgctgcttctag	12	6	2	1	rs377183591		TCGA-QR-A7IN-01A-11D-A35D-08	TCGA-QR-A7IN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c48d5c-7531-461c-886e-73c8c87b546f	7660362a-4837-4486-bd62-f508247ef5e2	g.chrX:57935103A>G	ENST00000358697.4	-	1	1964	c.1752T>C	c.(1750-1752)ctT>ctC	p.L584L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	584	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTGGGTGTAAGAGAATTTG	0.458																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1750-1752)ctT>ctC		zinc finger, X-linked, duplicated A		A		4,3810		0,0,4,1628,554	191	162	172		1752	1.6	0.9	X		172	2,6720		0,0,2,2426,1868	no	coding-synonymous	ZXDA	NM_007156.4		0,0,6,4054,2422	GG,GA,G,AA,A		0.0298,0.1049,0.0569		584/800	57935103	6,10530	2186	4296	6482	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935103A>G	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1752T>C	X.37:g.57935103A>G							p.L584L	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1964	-			584			Required for transcriptional activation.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1752T>C	CCDS14376.1																																																																																				0.458	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	55	0	0	0	1	0	3	55					G	57935103	A	G	57935103	2	3	54	1	0	0	0	0	0	0	0	1	18247	349	13	4		4	ZXDA	23	57935103	Silent	SNP	A	TCGA-QR-A7IN-01A-11D-A35D-08		57935103	97335457	17	1030										
PRDM2	7799	broad.mit.edu	37	chr1	14106458	14106458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgtttgtgtgtctgctcctgCatcaatgttgcctgtgacct	10	10	2	1			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:14106458C>A	ENST00000235372.7	+	8	3024	c.2168C>A	c.(2167-2169)gCa>gAa	p.A723E	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCTGCTCCTGCATCAATGTTG	0.473																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2167-2169)gCa>gAa		PR domain containing 2, with ZNF domain							100	97	98					1																	14106458		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14106458C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2168C>A	1.37:g.14106458C>A	ENSP00000235372:p.Ala723Glu					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A522E|PRDM2_ENST00000343137.4_Missense_Mutation_p.A522E|PRDM2_ENST00000311066.5_Missense_Mutation_p.A723E	p.A723E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3024	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	723					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2168C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265454	0.40095	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01629	4.84;4.72;4.73;4.73	5.61	5.61	0.85477	.	0.315841	0.30277	N	0.009981	T	0.07143	0.0181	L	0.51422	1.61	0.30078	N	0.809425	D;P;D;D	0.69078	0.994;0.933;0.997;0.996	P;B;P;P	0.62184	0.795;0.357;0.879;0.899	T	0.02424	-1.1161	10	0.38643	T	0.18	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	723;581;723;723	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	E	723;723;723;522;522	ENSP00000235372:A723E;ENSP00000312352:A723E;ENSP00000411103:A522E;ENSP00000341621:A522E	ENSP00000235372:A723E	A	+	2	0	PRDM2	13979045	0.995000	0.38212	0.781000	0.31783	0.966000	0.64601	3.097000	0.50251	2.793000	0.96121	0.655000	0.94253	GCA		0.473	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	89	1	0	0.000602214	1	0.000642362	4	89					A	14106458	C	A	14106458	3	1	55	1	0	0	0	0	1	0	0	0	12458	710	25	5	2194	5	PRDM2	1	14106458	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		14106458	235144163	1	1031										
ACTL8	81569	broad.mit.edu	37	chr1	18152586	18152586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tgggggaggccctggactttCgtgagaggcagcagagtgcc	18	9	0	2	rs267598220		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:18152586C>T	ENST00000375406.1	+	3	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	225					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(673-675)Cgt>Tgt		actin-like 8							48	52	50					1																	18152586		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152586C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.673C>T	1.37:g.18152586C>T	ENSP00000364555:p.Arg225Cys		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.R225C	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	889	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	225					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.673C>T	CCDS183.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665005	0.29604	.	.	ENSG00000117148	ENST00000375406	T	0.08008	3.14	4.07	-4.68	0.03309	.	2.015510	0.02199	N	0.062080	T	0.05456	0.0144	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.36817	-0.9732	10	0.87932	D	0	0.0	2.1038	0.03686	0.1422:0.2066:0.1406:0.5106	.	225	Q9H568	ACTL8_HUMAN	C	225	ENSP00000364555:R225C	ENSP00000364555:R225C	R	+	1	0	ACTL8	18025173	0.096000	0.21769	0.000000	0.03702	0.076000	0.17211	0.882000	0.28186	-1.024000	0.03338	0.591000	0.81541	CGT		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		13	43	0	0	0	1	0	13	43					T	18152586	C	T	18152586	3	4	55	1	0	0	0	0	1	0	0	0	202	884	31	2	679	2	ACTL8	1	18152586	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08	4046128	18152586	231098035	2	1032										
FAM63A	55793	broad.mit.edu	37	chr1	150975138	150975138	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcactgaaggtgtttactaaCctcagggacttgcctaagcc	10	11	1	1			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr1:150975138C>A	ENST00000361936.5	-	0	910				FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.V34F|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTTTACTAACCTCAGGGACT	0.517																																						ENST00000361738.6																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(100-102)Gtt>Ttt		family with sequence similarity 63, member A							30	30	30					1																	150975138		2202	4292	6494	SO:0001623	5_prime_UTR_variant	55793						protein binding	g.chr1:150975138C>A	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.-45G>T	1.37:g.150975138C>A						FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000361936.5_5'UTR|FAM63A_ENST00000470877.1_Intron	p.V34F	NM_001163258.1	NP_001156730.1	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	319	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		0					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.100G>T	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799353	0.31869	.	.	ENSG00000143409	ENST00000361738	T	0.50548	0.74	5.18	0.954	0.19595	.	1.506690	0.04677	N	0.411660	T	0.08492	0.0211	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.15263	-1.0443	9	0.14252	T	0.57	-0.0576	1.9788	0.03422	0.1735:0.5036:0.1456:0.1774	.	34	Q8N5J2-3	.	F	34	ENSP00000354669:V34F	ENSP00000354669:V34F	V	-	1	0	FAM63A	149241762	0.001000	0.12720	0.008000	0.14137	0.039000	0.13416	0.538000	0.23160	0.284000	0.22305	-0.150000	0.13652	GTT		0.517	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		13	21	1	0	2.27111e-07	1	2.90702e-07	13	21					A	150975138	C	A	150975138	1	1	55	0	1	0	0	0	0	0	0	0	5596	507	18	5		5	FAM63A	1	150975138	5'UTR	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08	132822552	150975138	98275483	3	1033										
HS1BP3	64342	broad.mit.edu	37	chr2	20818912	20818912	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctggttttctgggtatcacCggcttagctgccactggtgg	14	10	2	0			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr2:20818912C>T	ENST00000304031.3	-	7	1039	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	338	Pro-rich.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGTATCACCGGCTTAGCTG	0.597																																						ENST00000304031.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(1012-1014)ccG>ccA		HCLS1 binding protein 3							83	86	85					2																	20818912		2203	4300	6503	SO:0001819	synonymous_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20818912C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1014G>A	2.37:g.20818912C>T							p.P338P	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN			7	1039	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		338			Pro-rich.		B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	c.1014G>A	CCDS1700.1																																																																																				0.597	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		6	173	0	0	0	1	0	6	173					T	20818912	C	T	20818912	2	4	55	1	0	0	0	0	0	0	0	1	7361	639	23	2		2	HS1BP3	2	20818912	Silent	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		20818912	222380461	4	1034										
PROS1	5627	broad.mit.edu	37	chr3	93646235	93646235	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctaaccaggacttgtgaagcCtgttgctttgacaaaactga	9	9	0	3			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr3:93646235C>A	ENST00000394236.3	-	2	409	c.93G>T	c.(91-93)caG>caT	p.Q31H	PROS1_ENST00000407433.1_De_novo_Start_OutOfFrame	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	31					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTTGTGAAGCCTGTTGCTTTG	0.318																																						ENST00000407433.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46								protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						62	60	61					3																	93646235		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646235C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.93G>T	3.37:g.93646235C>A	ENSP00000377783:p.Gln31His					PROS1_ENST00000394236.3_Missense_Mutation_p.Q31H				P07225	PROS_HUMAN			0	260	-								A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Translation_Start_Site	SNP	ENST00000394236.3	37		CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	1.618	-0.522310	0.04141	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.92699	-2.67;-3.09	4.53	0.832	0.18867	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.632548	0.16629	N	0.206133	T	0.71937	0.3399	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57596	-0.7784	10	0.19590	T	0.45	.	3.8604	0.08993	0.6574:0.1394:0.0775:0.1257	.	31	P07225	PROS_HUMAN	H	31;63	ENSP00000377783:Q31H;ENSP00000330021:Q63H	ENSP00000330021:Q63H	Q	-	3	2	PROS1	95128925	0.989000	0.36119	0.773000	0.31616	0.581000	0.36288	2.070000	0.41491	0.323000	0.23307	-0.558000	0.04189	CAG		0.318	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		4	58	1	0	0.00024832	1	0.000274008	4	58					A	93646235	C	A	93646235	3	1	55	1	0	0	0	0	1	0	0	0	12558	680	24	5	1993	5	PROS1	3	93646235	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		93646235	104376195	5	1035										
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	41	0	0	0	1	0	4	41					T	140811108	C	T	140811108	2	4	55	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		140811108	50343168	6	1036										
RGS22	26166	broad.mit.edu	37	chr8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	NA	0	1	1	0	tgttggttttagatgggtccTtttttgtcctagggtgaact							TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)agfs		regulator of G-protein signaling 22							132	137	136					8																	101076229		1803	4063	5866	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076229delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.767delA	8.37:g.101076229delT	ENSP00000354109:p.Lys256fs					RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	p.K256fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	961	-			256					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.767delA	CCDS43758.1																																																																																				0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	400						8	400	---	---	---	---	-	101076229	T	-	101076229	7	5	55	1	0	1	0	1	0	0	0	0	13305	1609	56	0	3107	0	RGS22	8	101076229	Frame_Shift_Del	DEL	T	TCGA-QR-A7IP-01A-11D-A35D-08		101076229	45287793	7	1037										
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		19589	0		0	False		,,,				2504	0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		3	39	0	0	0	1	0	3	39					A	33068870	G	A	33068870	2	1	55	1	0	0	0	0	0	0	0	1	14817	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		33068870	108144561	8	1038										
TLR4	7099	broad.mit.edu	37	chr9	120474689	120474689	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgaaatccagacaattgaaGatggggcatatcagagccta	11	7	1	5			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr9:120474689G>T	ENST00000355622.6	+	3	384	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	95					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GACAATTGAAGATGGGGCATA	0.378																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(283-285)Gat>Tat		toll-like receptor 4							42	42	42					9																	120474689		2203	4299	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474689G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.283G>T	9.37:g.120474689G>T	ENSP00000363089:p.Asp95Tyr					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D55Y	p.D95Y	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	384	+			95					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.283G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288304	0.40494	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.59772	0.24;5.5	5.63	5.63	0.86233	.	0.083521	0.51477	D	0.000093	T	0.69214	0.3086	L	0.45422	1.42	0.50039	D	0.999844	D	0.63046	0.992	P	0.61397	0.888	T	0.70960	-0.4730	10	0.87932	D	0	.	19.6898	0.95996	0.0:0.0:1.0:0.0	.	95	O00206	TLR4_HUMAN	Y	55;95	ENSP00000377997:D55Y;ENSP00000363089:D95Y	ENSP00000363089:D95Y	D	+	1	0	TLR4	119514510	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	3.666000	0.54540	2.669000	0.90835	0.655000	0.94253	GAT		0.378	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		3	32	1	0	0.115264	1	0.115264	3	32					T	120474689	G	T	120474689	3	4	55	1	0	0	0	0	1	0	0	0	15950	942	33	5	293	5	TLR4	9	120474689	Missense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08	87405819	120474689	20738742	9	1039										
TACC2	10579	broad.mit.edu	37	chr10	123843740	123843740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcagatcacctggtgacagCcctggaggaaaggaggaagc	15	9	1	2	rs368976938		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr10:123843740C>A	ENST00000369005.1	+	4	2065	c.1725C>A	c.(1723-1725)agC>agA	p.S575R	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R|TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	575					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGTGACAGCCCTGGAGGAA	0.602																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1723-1725)agC>agA		transforming, acidic coiled-coil containing protein 2							62	69	67					10																	123843740		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843740C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1725C>A	10.37:g.123843740C>A	ENSP00000358001:p.Ser575Arg					TACC2_ENST00000515603.1_Missense_Mutation_p.S575R|TACC2_ENST00000515273.1_Missense_Mutation_p.S575R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S575R|TACC2_ENST00000453444.2_Missense_Mutation_p.S575R|TACC2_ENST00000358010.1_Intron	p.S575R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2065	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	575					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1725C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414327	0.25465	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03065	4.07;4.06;4.06;4.07;4.06	5.0	3.16	0.36331	.	1.187430	0.06422	N	0.722484	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26775	0.159;0.159;0.159	B;B;B	0.23574	0.047;0.047;0.047	T	0.44922	-0.9296	10	0.87932	D	0	-0.0241	7.6073	0.28110	0.0:0.8081:0.0:0.1919	.	575;575;575	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	R	575;575;575;575;575;565	ENSP00000358001:S575R;ENSP00000424467:S575R;ENSP00000427618:S575R;ENSP00000334280:S575R;ENSP00000395048:S575R	ENSP00000334280:S575R	S	+	3	2	TACC2	123833730	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.461000	0.21940	0.709000	0.31976	-0.258000	0.10820	AGC		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			20	59	1	0	1.64113e-05	1	1.94505e-05	20	59					A	123843740	C	A	123843740	3	1	55	1	0	0	0	0	1	0	0	0	15499	738	26	5	1735	5	TACC2	10	123843740	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		123843740	11691007	10	1040										
IGSF22	283284	broad.mit.edu	37	chr11	18732256	18732256	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gttgctgcctttcttccttcGttctacaatgtagccgagca	8	12	2	0	rs531575688		TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr11:18732256G>A	ENST00000513874.1	-	16	2657	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	838	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTTCCTTCGTTCTACAATG	0.567													G|||	1	0.000199681	8e-04	0	5008	,	,		19675	0		0	False		,,,				2504	0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2518-2520)Cga>Tga		immunoglobulin superfamily, member 22							77	77	77					11																	18732256		1930	4128	6058	SO:0001587	stop_gained	283284							g.chr11:18732256G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2518C>T	11.37:g.18732256G>A	ENSP00000421191:p.Arg840*					RP11-1081L13.4_ENST00000527285.1_RNA	p.R840*	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			16	2657	-			838			Fibronectin type-III 2.		A6NNA0|D6RGV7	Nonsense_Mutation	SNP	ENST00000513874.1	37	c.2518C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	39	7.898750	0.98551	.	.	ENSG00000179057	ENST00000513874	.	.	.	4.29	-0.477	0.12097	.	0.297010	0.17745	U	0.163438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2318	0.06751	0.0954:0.1283:0.2409:0.5353	.	.	.	.	X	840	.	ENSP00000322422:R739X	R	-	1	2	IGSF22	18688832	0.077000	0.21312	0.002000	0.10522	0.993000	0.82548	1.010000	0.29898	0.072000	0.16694	0.563000	0.77884	CGA		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		29	14	0	0	0	1	0	29	14					A	18732256	G	A	18732256	4	1	55	1	0	0	0	0	0	1	0	0	7600	1153	40	1	1494	1	IGSF22	11	18732256	Nonsense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		18732256	116274260	11	1041										
LUM	4060	broad.mit.edu	37	chr12	91502054	91502054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagttcgttgtgagataaacGcagatactgcaatgcattaa	9	7	0	2			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr12:91502054G>A	ENST00000266718.4	-	2	1157	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	235					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.R235C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGAGATAAACGCAGATACTGC	0.403																																						ENST00000266718.4																			1	Substitution - Missense(1)	p.R235C(1)	endometrium(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)Cgt>Tgt		lumican							164	153	157					12																	91502054		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502054G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.703C>T	12.37:g.91502054G>A	ENSP00000266718:p.Arg235Cys					LUM_ENST00000548071.1_5'UTR	p.R235C	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN			2	1157	-			235					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.703C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069027	0.76301	.	.	ENSG00000139329	ENST00000266718	T	0.57595	0.39	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72666	-0.4224	10	0.72032	D	0.01	-6.2831	19.5537	0.95331	0.0:0.0:1.0:0.0	.	235	P51884	LUM_HUMAN	C	235	ENSP00000266718:R235C	ENSP00000266718:R235C	R	-	1	0	LUM	90026185	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.784000	0.68990	2.614000	0.88457	0.557000	0.71058	CGT		0.403	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		49	87	0	0	0	1	0	49	87					A	91502054	G	A	91502054	3	1	55	1	0	0	0	0	1	0	0	0	9085	1087	38	1	321	1	LUM	12	91502054	Missense_Mutation	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		91502054	42349841	12	1042										
C14orf104	55172	broad.mit.edu	37	chr14	50092335	50092335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgatctttaatgacctgcacActaccatcctgcatattggt	6	11	1	2			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr14:50092335A>G	ENST00000298292.8	-	3	2519	c.2439T>C	c.(2437-2439)agT>agC	p.S813S	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Silent_p.S765S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	813					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TGACCTGCACACTACCATCCT	0.333																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2437-2439)agT>agC		dynein, axonemal, assembly factor 2							156	145	149					14																	50092335		2203	4300	6503	SO:0001819	synonymous_variant	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092335A>G	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"kintoun"	612517	"chromosome 14 open reading frame 104"	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2439T>C	14.37:g.50092335A>G						DNAAF2_ENST00000406043.3_Silent_p.S765S	p.S813S	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2519	-			813					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.2439T>C	CCDS9691.2																																																																																				0.333	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			5	103	0	0	0	1	0	5	103					G	50092335	A	G	50092335	2	3	55	1	0	0	0	0	0	0	0	1	1736	156	6	4		4	C14orf104	14	50092335	Silent	SNP	A	TCGA-QR-A7IP-01A-11D-A35D-08		50092335	57257205	13	1043										
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	15	21	1	1	rs190057031	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3	5	4					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	17	0	0	0	1	0	3	17					C	18937330	T	C	18937330	3	2	55	1	0	0	0	0	1	0	0	0	14795	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-QR-A7IP-01A-11D-A35D-08		18937330	71417423	14	1044										
MAP1LC3B	81631	broad.mit.edu	37	chr16	87426052	87426052	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	NA	0	1	1	0	ccatgccgtcggagaagaccTtcaagcagcgccgcaccttc							TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr16:87426052delT	ENST00000268607.5	+	1	647	c.19delT	c.(19-21)ttcfs	p.F7fs	MAP1LC3B_ENST00000565788.1_Frame_Shift_Del_p.F7fs|MAP1LC3B_ENST00000534986.1_5'Flank	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	7					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		GGAGAAGACCTTCAAGCAGCG	0.786																																						ENST00000268607.5																			0				endometrium(1)|lung(2)	3						c.(19-21)tcfs		microtubule-associated protein 1 light chain 3 beta							2	3	2					16																	87426052		1694	3476	5170	SO:0001589	frameshift_variant	81631				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr16:87426052delT	AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	ENST00000268607.5:c.19delT	16.37:g.87426052delT	ENSP00000268607:p.Phe7fs					MAP1LC3B_ENST00000565788.1_Frame_Shift_Del_p.F7fs	p.F7fs	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0249)	1	647	+			7					Q6NW02	Frame_Shift_Del	DEL	ENST00000268607.5	37	c.19delT	CCDS10960.1																																																																																				0.786	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269106.1			2	4						2	4	---	---	---	---	-	87426052	T	-	87426052	7	5	55	1	0	1	0	1	0	0	0	0	9231	1609	56	0	21	0	MAP1LC3B	16	87426052	Frame_Shift_Del	DEL	T	TCGA-QR-A7IP-01A-11D-A35D-08	68488722	87426052	2928701	15	1045										
STX8	9482	broad.mit.edu	37	chr17	9153924	9153924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cggccagactgcaacaaccaCgatagccacaagcagcagta	9	14	0	1			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr17:9153924C>T	ENST00000306357.4	-	8	1109	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	STX8_ENST00000574431.1_Missense_Mutation_p.V117M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	228					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GCAACAACCACGATAGCCACA	0.463																																						ENST00000306357.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						c.(682-684)Gtg>Atg		syntaxin 8							124	110	115					17																	9153924		2202	4297	6499	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9153924C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.682G>A	17.37:g.9153924C>T	ENSP00000305255:p.Val228Met					STX8_ENST00000574431.1_Missense_Mutation_p.V117M	p.V228M	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN			8	1109	-			228					O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.682G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700791	0.48307	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.1	5.1	0.69264	.	0.196490	0.43579	D	0.000544	T	0.63931	0.2553	M	0.78049	2.395	0.80722	D	1	D	0.58970	0.984	P	0.45474	0.482	T	0.71494	-0.4576	9	0.66056	D	0.02	-20.7714	15.8147	0.78592	0.0:1.0:0.0:0.0	.	228	Q9UNK0	STX8_HUMAN	M	228	.	ENSP00000305255:V228M	V	-	1	0	STX8	9094649	0.990000	0.36364	0.986000	0.45419	0.402000	0.30811	2.780000	0.47742	2.642000	0.89623	0.655000	0.94253	GTG		0.463	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		4	12	0	0	0	1	0	4	12					T	9153924	C	T	9153924	3	4	55	1	0	0	0	0	1	0	0	0	15350	536	19	1	32	1	STX8	17	9153924	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		9153924	72041286	16	1046										
PSG2	5670	broad.mit.edu	37	chr19	43585116	43585116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtaaggtgtaggatcctgcgTcctcccgggtgacattctgg	14	10	1	1			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr19:43585116T>C	ENST00000406487.1	-	2	445	c.347A>G	c.(346-348)gAc>gGc	p.D116G	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	116	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGATCCTGCGTCCTCCCGGGT	0.453																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(346-348)gAc>gGc		pregnancy specific beta-1-glycoprotein 2							106	107	106					19																	43585116		2200	4278	6478	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585116T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9519	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta-1-glycoprotein 7", "carcinoembryonic antigen SG8"	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.347A>G	19.37:g.43585116T>C	ENSP00000385706:p.Asp116Gly						p.D116G	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	445	-		Prostate(69;0.00682)	116			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.347A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	10.41	1.342206	0.24339	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	D	0.88046	-2.33	0.569	0.569	0.17340	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93729	0.7996	M	0.93016	3.37	0.09310	N	1	D;D	0.89917	1.0;0.985	D;D	0.87578	0.998;0.958	D	0.84359	0.0537	8	0.87932	D	0	.	.	.	.	.	116;116	B5MCM8;P11465	.;PSG2_HUMAN	G	116	ENSP00000385706:D116G	ENSP00000332984:D116G	D	-	2	0	PSG2	48276956	0.010000	0.17322	0.003000	0.11579	0.004000	0.04260	1.702000	0.37836	0.477000	0.27464	0.155000	0.16302	GAC		0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		123	182	0	0	0	1	0	123	182					C	43585116	T	C	43585116	3	2	55	1	0	0	0	0	1	0	0	0	12655	1667	58	4	676	4	PSG2	19	43585116	Missense_Mutation	SNP	T	TCGA-QR-A7IP-01A-11D-A35D-08		43585116	15543867	17	1047										
TTLL1	25809	broad.mit.edu	37	chr22	43465690	43465690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tttttctgccagaggactccCttctttctccagctccttcc	5	16	3	1			TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chr22:43465690C>T	ENST00000266254.7	-	4	514	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	TTLL1_ENST00000331018.7_Missense_Mutation_p.G92R	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	92	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGAGGACTCCCTTCTTTCTCC	0.428																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(274-276)Ggg>Agg		tubulin tyrosine ligase-like family, member 1							210	208	209					22																	43465690		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43465690C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.274G>A	22.37:g.43465690C>T	ENSP00000266254:p.Gly92Arg					TTLL1_ENST00000266254.7_Missense_Mutation_p.G92R	p.G92R			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	4	514	-		Ovarian(80;0.0694)	92			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.274G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001923	0.54254	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.06371	3.31;3.56	5.89	5.89	0.94794	.	0.281698	0.40640	N	0.001043	T	0.15609	0.0376	M	0.73598	2.24	0.80722	D	1	B;B	0.21606	0.056;0.058	B;B	0.31337	0.115;0.128	T	0.01800	-1.1271	10	0.54805	T	0.06	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	92;92	O95922-4;O95922	.;TTLL1_HUMAN	R	92	ENSP00000333734:G92R;ENSP00000266254:G92R	ENSP00000266254:G92R	G	-	1	0	TTLL1	41795634	0.987000	0.35691	0.330000	0.25442	0.789000	0.44602	2.325000	0.43840	2.788000	0.95919	0.557000	0.71058	GGG		0.428	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		40	196	0	0	0	1	0	40	196					T	43465690	C	T	43465690	3	4	55	1	0	0	0	0	1	0	0	0	16719	681	24	3	1029	3	TTLL1	22	43465690	Missense_Mutation	SNP	C	TCGA-QR-A7IP-01A-11D-A35D-08		43465690	7838876	18	1048										
FAM104B	90736	broad.mit.edu	37	chrX	55172537	55172537	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcatgttggagcttgccctcGctgctgcaggctgttgaagt	13	10	1	1	rs1047054	byFrequency	TCGA-QR-A7IP-01A-11D-A35D-08	TCGA-QR-A7IP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95d8c07b-c848-461a-b0c1-bac02ceef57d	4beec4a9-1246-497c-9299-f4457425c9da	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40	26	30					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		3	27	0	0	0	1	0	3	27					A	55172537	G	A	55172537	1	1	55	0	1	0	0	0	0	0	0	0	5386	1095	38	1		1	FAM104B	23	55172537	Intron	SNP	G	TCGA-QR-A7IP-01A-11D-A35D-08		55172537	100098023	19	1049										
UBR4	23352	broad.mit.edu	37	chr1	19481549	19481549	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tacacggacacaccaccgccCgccacctggctgttactgtc	8	18	0	0			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:19481549C>G	ENST00000375254.3	-	44	6348	c.6321G>C	c.(6319-6321)gcG>gcC	p.A2107A	UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375267.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2107					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCACCGCCCGCCACCTGGC	0.483																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6319-6321)gcG>gcC		ubiquitin protein ligase E3 component n-recognin 4							143	128	133					1																	19481549		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19481549C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6321G>C	1.37:g.19481549C>G						UBR4_ENST00000375226.2_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A|UBR4_ENST00000375254.3_Silent_p.A2107A	p.A2107A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	44	6324	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2107					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.6321G>C	CCDS189.1																																																																																				0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		36	58	0	0	0	1	0	36	58					G	19481549	C	G	19481549	2	3	56	1	0	0	0	0	0	0	0	1	16901	639	23	5		5	UBR4	1	19481549	Silent	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08		19481549	229769072	1	1050										
PRKACB	5567	broad.mit.edu	37	chr1	84647929	84647929	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	aaggaaaaaaacccttggaaCaggttcatttggaagagtca	10	6	2	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:84647929C>G	ENST00000370689.2	+	3	419	c.155C>G	c.(154-156)aCa>aGa	p.T52R	PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370685.3_Missense_Mutation_p.T99R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R|PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACCCTTGGAACAGGTTCATTT	0.323																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(154-156)aCa>aGa		protein kinase, cAMP-dependent, catalytic, beta							100	100	100					1																	84647929		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84647929C>G	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.155C>G	1.37:g.84647929C>G	ENSP00000359723:p.Thr52Arg					PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.T58R|PRKACB_ENST00000370685.3_Missense_Mutation_p.T99R|PRKACB_ENST00000394838.2_Missense_Mutation_p.T59R|PRKACB_ENST00000370688.3_Missense_Mutation_p.T52R|PRKACB_ENST00000370682.3_Missense_Mutation_p.T56R|PRKACB_ENST00000394839.2_Missense_Mutation_p.T55R	p.T52R	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	3	419	+			52			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.155C>G	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881002	0.91740	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;3.26	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	N	0.05306	-0.075	0.80722	D	1	D;B;B;B;B;B;B;P;B;D;B	0.65815	0.995;0.056;0.069;0.022;0.019;0.056;0.008;0.535;0.1;0.995;0.003	D;B;B;B;B;B;B;B;B;D;B	0.83275	0.996;0.048;0.078;0.065;0.024;0.047;0.047;0.069;0.177;0.996;0.026	T	0.71108	-0.4688	10	0.87932	D	0	-14.6694	19.4363	0.94796	0.0:1.0:0.0:0.0	.	52;40;59;58;55;58;56;99;99;52;52	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	R	52;52;99;59;40;56;59;56;58;48;55;58;47;39;55;14	ENSP00000359723:T52R;ENSP00000359722:T52R;ENSP00000359719:T99R;ENSP00000401252:T59R;ENSP00000359718:T40R;ENSP00000390906:T56R;ENSP00000378314:T59R;ENSP00000359716:T56R;ENSP00000392275:T48R;ENSP00000393654:T55R;ENSP00000359714:T58R;ENSP00000397175:T47R;ENSP00000399326:T39R;ENSP00000378315:T55R	ENSP00000359713:T58R	T	+	2	0	PRKACB	84420517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.606000	0.88127	0.650000	0.86243	ACA		0.323	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		41	8	0	0	0	1	0	41	8					G	84647929	C	G	84647929	3	3	56	1	0	0	0	0	1	0	0	0	12498	478	17	5	356	5	PRKACB	1	84647929	Missense_Mutation	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08	65166380	84647929	164602692	2	1051										
IVL	3713	broad.mit.edu	37	chr1	152883994	152883994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tcctgtagagcaccagcagcAgaagcaggaggtgcagtggc	15	10	0	2			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:152883994A>G	ENST00000368764.3	+	2	1785	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R	IVL_ENST00000392667.2_Missense_Mutation_p.Q428R			P07476	INVO_HUMAN	involucrin	574					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAGCAGCAGAAGCAGGAG	0.567																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1720-1722)cAg>cGg		involucrin							68	69	69					1																	152883994		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883994A>G	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1721A>G	1.37:g.152883994A>G	ENSP00000357753:p.Gln574Arg					IVL_ENST00000392667.2_Missense_Mutation_p.Q428R	p.Q574R			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1785	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		574					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1721A>G	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309857	0.40895	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.16743	2.32;2.6	3.35	2.23	0.28157	.	.	.	.	.	T	0.04272	0.0118	L	0.45581	1.43	0.21064	N	0.999797	B	0.30281	0.275	B	0.26310	0.068	T	0.38023	-0.9680	9	0.36615	T	0.2	.	2.7808	0.05360	0.6554:0.0:0.1226:0.222	.	574	P07476	INVO_HUMAN	R	574;428	ENSP00000357753:Q574R;ENSP00000376435:Q428R	ENSP00000357753:Q574R	Q	+	2	0	IVL	151150618	0.014000	0.17966	0.236000	0.24074	0.235000	0.25334	2.149000	0.42244	0.672000	0.31204	0.460000	0.39030	CAG		0.567	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		19	37	0	0	0	1	0	19	37					G	152883994	A	G	152883994	3	3	56	1	0	0	0	0	1	0	0	0	7929	188	7	4	1723	4	IVL	1	152883994	Missense_Mutation	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08	68236065	152883994	96366627	3	1052										
SUSD4	55061	broad.mit.edu	37	chr1	223536702	223536703	+	In_Frame_Ins	INS	-	-	TGC													0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	gtctctggggggactgaggtINStgctgctgctgctgctgctg					rs371162328|rs568360954|rs143929528	byFrequency	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr1:223536702_223536703insTGC	ENST00000343846.3	-	1	698_699	c.65_66insGCA	c.(64-66)caa>caGCAa	p.22_22Q>QQ	SUSD4_ENST00000366877.3_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000494793.2_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000344029.6_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_In_Frame_Ins_p.22_22Q>QQ|SUSD4_ENST00000484758.2_In_Frame_Ins_p.22_22Q>QQ			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	22						integral component of membrane (GO:0016021)		p.Q22R(2)|p.Q22delQ(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGGACTGAGGTtgctgctgctg	0.574																																						ENST00000343846.3																			4	Substitution - Missense(2)|Deletion - In frame(2)	p.Q22R(2)|p.Q22delQ(2)	large_intestine(4)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(64-66)ccc>cGCAcc		sushi domain containing 4																																				SO:0001652	inframe_insertion	55061					integral to membrane		g.chr1:223536702_223536703insTGC	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.63_65dupGCA	1.37:g.223536709_223536711dupTGC	ENSP00000344219:p.Gln22dup					SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000366877.3_In_Frame_Ins_p.22_22P>RT|SUSD4_ENST00000342943.3_In_Frame_Ins_p.22_22P>RT	p.22_22P>RT			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	1	698_699	-			22					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	In_Frame_Ins	INS	ENST00000343846.3	37	c.65_66insGCA	CCDS41471.1																																																																																				0.574	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		4	7						4	7	---	---	---	---	TGC	223536703	-	TGC	223536702	7	5	56	1	0	1	1	0	0	0	0	0	15407	1722	60	0	1591	0	SUSD4	1	223536702	In_Frame_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	70652708	223536702	25713919	4	1053										
NOP58	51602	broad.mit.edu	37	chr2	203155921	203155921	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	gttgaagcagaagtgaaagcAgctgcagagatatcaatggg	14	5	1	4			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr2:203155921A>C	ENST00000264279.5	+	8	934	c.708A>C	c.(706-708)gcA>gcC	p.A236A	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	236				KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084). {ECO:0000305}.	cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AAGTGAAAGCAGCTGCAGAGA	0.433																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(706-708)gcA>gcC		NOP58 ribonucleoprotein							110	113	112					2																	203155921		2203	4300	6503	SO:0001819	synonymous_variant	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203155921A>C		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.708A>C	2.37:g.203155921A>C							p.A236A	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			8	934	+			236	KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084).				Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	ENST00000264279.5	37	c.708A>C	CCDS2353.1																																																																																				0.433	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		48	62	0	0	0	1	0	48	62					C	203155921	A	C	203155921	2	2	56	1	0	0	0	0	0	0	0	1	10540	175	7	5		5	NOP58	2	203155921	Silent	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08		203155921	40043452	5	1054										
SEMA3F	6405	broad.mit.edu	37	chr3	50212532	50212532	+	Frame_Shift_Del	DEL	A	A	-													0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	gttcctcgtcttctcaggccAcaccatggacccagactcag							TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr3:50212532delA	ENST00000002829.3	+	6	944	c.460delA	c.(460-462)acafs	p.T154fs	MIR566_ENST00000385187.1_RNA|SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Intron	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	154	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTCTCAGGCCACACCATGGAC	0.687																																						ENST00000002829.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(460-462)cafs		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F							22	24	24					3																	50212532		2199	4298	6497	SO:0001589	frameshift_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50212532delA	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.460delA	3.37:g.50212532delA	ENSP00000002829:p.Thr154fs					SEMA3F_ENST00000434342.1_Intron|SEMA3F_ENST00000413852.1_Intron	p.T154fs	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	6	944	+			154	Missing (in Ref. 2).		Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Frame_Shift_Del	DEL	ENST00000002829.3	37	c.460delA	CCDS2811.1																																																																																				0.687	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		2	4						2	4	---	---	---	---	-	50212532	A	-	50212532	7	5	56	1	0	1	0	1	0	0	0	0	14029	159	6	0	478	0	SEMA3F	3	50212532	Frame_Shift_Del	DEL	A	TCGA-QT-A5XJ-01A-11D-A35D-08		50212532	147809898	6	1055										
OLIG3	167826	broad.mit.edu	37	chr6	137814559	137814559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tggagagagcggacaggtgcGgcggcggcggcatctggcag	21	9	1	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr6:137814559G>A	ENST00000367734.2	-	1	972	c.749C>T	c.(748-750)cCg>cTg	p.P250L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	250	Poly-Pro.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGACAGGTGCGGCGGCGGCGG	0.716																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(748-750)cCg>cTg		oligodendrocyte transcription factor 3							6	7	7					6																	137814559		1959	3967	5926	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137814559G>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.749C>T	6.37:g.137814559G>A	ENSP00000356708:p.Pro250Leu						p.P250L	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	972	-	Breast(32;0.165)|Colorectal(23;0.24)		250			Poly-Pro.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.749C>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084303	0.76642	.	.	ENSG00000177468	ENST00000367734	D	0.99466	-5.95	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.56088	0.791	D	0.99568	1.0970	10	0.16420	T	0.52	-1.2297	18.5888	0.91200	0.0:0.0:1.0:0.0	.	250	Q7RTU3	OLIG3_HUMAN	L	250	ENSP00000356708:P250L	ENSP00000356708:P250L	P	-	2	0	OLIG3	137856252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.042000	0.93793	2.619000	0.88677	0.650000	0.86243	CCG		0.716	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	6	0	0	0	1	0	7	6					A	137814559	G	A	137814559	3	1	56	1	0	0	0	0	1	0	0	0	10862	1116	39	2	73	2	OLIG3	6	137814559	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		137814559	33300508	7	1056										
TFR2	7036	broad.mit.edu	37	chr7	100238453	100238453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	ccaacacagagtctccgcacGcctggcaggaccctcggaag	11	16	1	1	rs139318596		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr7:100238453G>A	ENST00000462107.1	-	4	616	c.329C>T	c.(328-330)gCg>gTg	p.A110V	TFR2_ENST00000431692.1_Missense_Mutation_p.A110V|TFR2_ENST00000223051.3_Missense_Mutation_p.A110V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	110					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GTCTCCGCACGCCTGGCAGGA	0.592																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(328-330)gCg>gTg		transferrin receptor 2		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	66	60	62		329	3.6	0.6	7	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TFR2	NM_003227.3	64	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	110/802	100238453	3,13003	2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100238453G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.329C>T	7.37:g.100238453G>A	ENSP00000420525:p.Ala110Val					TFR2_ENST00000431692.1_Missense_Mutation_p.A110V|TFR2_ENST00000223051.3_Missense_Mutation_p.A110V	p.A110V			Q9UP52	TFR2_HUMAN			4	616	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		110					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.329C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914603	0.17907	4.54E-4	1.16E-4	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.54279	0.59;0.58;0.59	4.47	3.59	0.41128	.	0.947299	0.08818	N	0.889275	T	0.36744	0.0978	N	0.19112	0.55	0.21933	N	0.999461	B	0.14438	0.01	B	0.04013	0.001	T	0.19516	-1.0303	10	0.29301	T	0.29	-4.633	8.5519	0.33458	0.1063:0.0:0.8937:0.0	.	110	Q9UP52	TFR2_HUMAN	V	110	ENSP00000223051:A110V;ENSP00000413905:A110V;ENSP00000420525:A110V	ENSP00000223051:A110V	A	-	2	0	TFR2	100076389	0.952000	0.32445	0.583000	0.28640	0.050000	0.14768	3.279000	0.51670	1.256000	0.44068	0.313000	0.20887	GCG		0.592	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		25	35	0	0	0	1	0	25	35					A	100238453	G	A	100238453	3	1	56	1	0	0	0	0	1	0	0	0	15808	1087	38	1	2140	1	TFR2	7	100238453	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		100238453	58900210	8	1057										
ARID3C	138715	broad.mit.edu	37	chr9	34622507	34622507	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	acaggcagtgccagacaaggGtttggaattccactctcctc	10	12	1	1	rs200075015		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr9:34622507G>T	ENST00000378909.2	-	5	977	c.885C>A	c.(883-885)aaC>aaA	p.N295K	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	295	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCAGACAAGGGTTTGGAATTC	0.572													G|||	1	0.000199681	0	0.0014	5008	,	,		17599	0		0	False		,,,				2504	0					ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(883-885)aaC>aaA		AT rich interactive domain 3C (BRIGHT-like)							71	76	74					9																	34622507		2203	4300	6503	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622507G>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"-"	21209	protein-coding gene	gene with protein product			"AT rich interactive domain 3C (BRIGHT- like)"				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.885C>A	9.37:g.34622507G>T	ENSP00000368189:p.Asn295Lys						p.N295K	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	5	977	-	all_epithelial(49;0.102)		295			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.885C>A	CCDS35006.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.213	-1.034799	0.02029	.	.	ENSG00000205143	ENST00000378909	T	0.42513	0.97	4.16	4.16	0.48862	.	0.764862	0.11604	N	0.547482	T	0.21145	0.0509	N	0.08118	0	0.20074	N	0.999932	B	0.11235	0.004	B	0.04013	0.001	T	0.04961	-1.0915	10	0.06099	T	0.92	-1.4087	12.2586	0.54636	0.0:0.0:1.0:0.0	.	295	A6NKF2	ARI3C_HUMAN	K	295	ENSP00000368189:N295K	ENSP00000368189:N295K	N	-	3	2	ARID3C	34612507	0.993000	0.37304	0.965000	0.40720	0.156000	0.22039	1.745000	0.38278	2.603000	0.88011	0.448000	0.29417	AAC		0.572	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		31	39	1	0	6.84511e-11	1	6.84511e-11	31	39					T	34622507	G	T	34622507	3	4	56	1	0	0	0	0	1	0	0	0	918	1252	44	5	364	5	ARID3C	9	34622507	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		34622507	106590924	9	1058										
LARP4B	23185	broad.mit.edu	37	chr10	890943	890943	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	aagcagaattccaatgttttTttaagtacttctcgggggtc	9	7	1	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:890943T>G	ENST00000316157.3	-	5	523	c.483A>C	c.(481-483)aaA>aaC	p.K161N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	161	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCAATGTTTTTTTAAGTACTT	0.358																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(481-483)aaA>aaC		La ribonucleoprotein domain family, member 4B							127	120	123					10																	890943		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:890943T>G	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.483A>C	10.37:g.890943T>G	ENSP00000326128:p.Lys161Asn						p.K161N	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			5	523	-			161			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.483A>C	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027786	0.75390	.	.	ENSG00000107929	ENST00000316157	T	0.46819	0.86	5.65	-3.81	0.04294	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.7897	15.5529	0.76167	0.0:0.5858:0.0:0.4142	.	161	Q92615	LAR4B_HUMAN	N	161	ENSP00000326128:K161N	ENSP00000326128:K161N	K	-	3	2	LARP4B	880943	0.998000	0.40836	0.925000	0.36789	0.969000	0.65631	0.330000	0.19715	-0.921000	0.03794	-0.468000	0.05107	AAA		0.358	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		44	47	0	0	0	1	0	44	47					G	890943	T	G	890943	3	3	56	1	0	0	0	0	1	0	0	0	8631	1838	64	5	1785	5	LARP4B	10	890943	Missense_Mutation	SNP	T	TCGA-QT-A5XJ-01A-11D-A35D-08		890943	134643804	10	1059										
DHTKD1	55526	broad.mit.edu	37	chr10	12162226	12162226	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tcagaacatgggtccgtggtCgtttgtttctccaaggtttg	12	8	2	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:12162226C>G	ENST00000263035.4	+	16	2680	c.2618C>G	c.(2617-2619)tCg>tGg	p.S873W		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	873					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGTCCGTGGTCGTTTGTTTCT	0.443																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2617-2619)tCg>tGg		dehydrogenase E1 and transketolase domain containing 1							216	200	206					10																	12162226		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12162226C>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2618C>G	10.37:g.12162226C>G	ENSP00000263035:p.Ser873Trp						p.S873W	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		16	2680	+		Renal(717;0.228)	873					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2618C>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560696	0.65538	.	.	ENSG00000181192	ENST00000263035	T	0.05649	3.41	5.33	-10.3	0.00346	.	0.442893	0.28031	N	0.016880	T	0.09686	0.0238	M	0.73372	2.23	0.53688	D	0.99997	P	0.49783	0.928	P	0.52909	0.713	T	0.48031	-0.9070	10	0.39692	T	0.17	1.2029	9.7783	0.40632	0.0:0.2857:0.4559:0.2584	.	873	Q96HY7	DHTK1_HUMAN	W	873	ENSP00000263035:S873W	ENSP00000263035:S873W	S	+	2	0	DHTKD1	12202232	0.747000	0.28283	0.109000	0.21407	0.784000	0.44337	0.476000	0.22180	-2.029000	0.00930	-0.131000	0.14894	TCG		0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		78	100	0	0	0	1	0	78	100					G	12162226	C	G	12162226	3	3	56	1	0	0	0	0	1	0	0	0	4500	893	31	5	2680	5	DHTKD1	10	12162226	Missense_Mutation	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08	11271283	12162226	123372521	11	1060										
EPC1	80314	broad.mit.edu	37	chr10	32581929	32581930	+	Frame_Shift_Ins	INS	-	-	T													0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	acttacttttcgagtctgcaINSttttttcagtacgccttcta							TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:32581929_32581930insT	ENST00000263062.8	-	4	921_922	c.652_653insA	c.(652-654)atgfs	p.M218fs	EPC1_ENST00000319778.6_Frame_Shift_Ins_p.M218fs|EPC1_ENST00000375110.2_Frame_Shift_Ins_p.M168fs	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	218					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCGAGTCTGCATTTTTTCAGTA	0.322																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(652-654)gcafs		enhancer of polycomb homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32581929_32581930insT	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.653dupA	10.37:g.32581935_32581935dupT	ENSP00000263062:p.Met218fs					EPC1_ENST00000263062.8_Frame_Shift_Ins_p.A218fs|EPC1_ENST00000375110.2_Frame_Shift_Ins_p.A168fs	p.A218fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			4	954_955	-		Prostate(175;0.0199)	218					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Frame_Shift_Ins	INS	ENST00000263062.8	37	c.652_653insA	CCDS7172.1																																																																																				0.322	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			33	39						33	39	---	---	---	---	T	32581930	-	T	32581929	7	5	56	1	0	1	1	0	0	0	0	0	5160	217	8	0	1905	0	EPC1	10	32581929	Frame_Shift_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	20419703	32581929	102952818	12	1061										
BAG3	9531	broad.mit.edu	37	chr10	121436654	121436654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	caatcatggagatgggtgccGtggcagcagacaagggcaag	16	8	1	2	rs144678100	byFrequency	TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr10:121436654G>A	ENST00000369085.3	+	4	1894	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	530					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GATGGGTGCCGTGGCAGCAGA	0.542																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1588-1590)Gtg>Atg		BCL2-associated athanogene 3		G	MET/VAL	0,4406		0,0,2203	87	86	87		1588	-10.7	0	10	dbSNP_134	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	BAG3	NM_004281.3	21	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	530/576	121436654	4,13002	2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436654G>A	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1588G>A	10.37:g.121436654G>A	ENSP00000358081:p.Val530Met						p.V530M	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1894	+		Lung NSC(174;0.109)|all_lung(145;0.142)	530					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.1588G>A	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	5.217	0.225469	0.09916	0.0	4.65E-4	ENSG00000151929	ENST00000369085	T	0.76316	-1.01	5.35	-10.7	0.00240	.	1.752420	0.02182	N	0.060543	T	0.52403	0.1732	N	0.04880	-0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.48468	-0.9033	10	0.41790	T	0.15	2.3049	7.6452	0.28316	0.1912:0.1764:0.5446:0.0878	.	530;530	O95817;Q53GY1	BAG3_HUMAN;.	M	530	ENSP00000358081:V530M	ENSP00000358081:V530M	V	+	1	0	BAG3	121426644	0.000000	0.05858	0.000000	0.03702	0.539000	0.34962	-2.647000	0.00860	-2.394000	0.00583	-1.510000	0.00946	GTG		0.542	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		4	92	0	0	0	1	0	4	92					A	121436654	G	A	121436654	3	1	56	1	0	0	0	0	1	0	0	0	1288	1145	40	1	1602	1	BAG3	10	121436654	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	88854725	121436654	14098093	13	1062										
OR52I2	143502	broad.mit.edu	37	chr11	4608623	4608623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tccactgagttggatggtgaGtcatctacctttctgtggct	11	9	3	2			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:4608623G>C	ENST00000312614.4	+	1	603	c.581G>C	c.(580-582)aGt>aCt	p.S194T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGATGGTGAGTCATCTACCT	0.507																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(580-582)aGt>aCt		olfactory receptor, family 52, subfamily I, member 2							131	128	129					11																	4608623		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608623G>C	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.581G>C	11.37:g.4608623G>C	ENSP00000308764:p.Ser194Thr						p.S194T	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	603	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	194					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.581G>C	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	3.315	-0.140030	0.06669	.	.	ENSG00000226288	ENST00000312614	T	0.72051	-0.62	4.17	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.127996	0.35772	N	0.002990	T	0.51244	0.1663	L	0.33624	1.015	0.09310	N	1	P	0.40681	0.727	B	0.35931	0.214	T	0.39035	-0.9633	10	0.20519	T	0.43	-6.8245	8.3837	0.32488	0.0:0.0:0.5425:0.4575	.	194	Q8NH67	O52I2_HUMAN	T	194	ENSP00000308764:S194T	ENSP00000308764:S194T	S	+	2	0	OR52I2	4565199	0.000000	0.05858	0.959000	0.39883	0.911000	0.54048	-0.981000	0.03766	0.942000	0.37525	0.638000	0.83543	AGT		0.507	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		50	42	0	0	0	1	0	50	42					C	4608623	G	C	4608623	3	2	56	1	0	0	0	0	1	0	0	0	11121	1029	36	5	583	5	OR52I2	11	4608623	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		4608623	130397893	14	1063										
PTPN5	84867	broad.mit.edu	37	chr11	18764923	18764924	+	Frame_Shift_Ins	INS	-	-	T													0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	aggagacgaggtttgtggcgINSttctgtgaccagatgtggcc					rs552726407		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:18764923_18764924insT	ENST00000358540.2	-	5	774_775	c.344_345insA	c.(343-345)aacfs	p.N115fs	PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.N115fs|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.N91fs|PTPN5_ENST00000396167.2_Intron	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	115					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTTTGTGGCGTTCTGTGACCA	0.604																																						ENST00000358540.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(343-345)agcfs		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)																																				SO:0001589	frameshift_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18764923_18764924insT	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.345dupA	11.37:g.18764925_18764925dupT	ENSP00000351342:p.Asn115fs					PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.S91fs|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.S115fs|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000496201.2_5'UTR	p.S115fs	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN			5	774_775	-			115					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Frame_Shift_Ins	INS	ENST00000358540.2	37	c.344_345insA	CCDS7845.1																																																																																				0.604	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		45	75						45	75	---	---	---	---	T	18764924	-	T	18764923	7	5	56	1	0	1	1	0	0	0	0	0	12791	1136	40	0	1396	0	PTPN5	11	18764923	Frame_Shift_Ins	INS	-	TCGA-QT-A5XJ-01A-11D-A35D-08	14156300	18764923	116241593	15	1064										
PRG2	5553	broad.mit.edu	37	chr11	57154992	57154992	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tcttctgaggcagtgggctcGacgccagtggcctcctgtga	14	12	2	2	rs143145891		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr11:57154992G>A	ENST00000311862.5	-	6	698	c.625C>T	c.(625-627)Cga>Tga	p.R209*	PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209*|PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	209	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CAGTGGGCTCGACGCCAGTGG	0.592																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(625-627)Cga>Tga		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)		G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	68	68	68		625	0.4	0	11	dbSNP_134	68	0,8592		0,0,4296	no	stop-gained	PRG2	NM_002728.4		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		209/223	57154992	1,12993	2201	4296	6497	SO:0001587	stop_gained	5553							g.chr11:57154992G>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.625C>T	11.37:g.57154992G>A	ENSP00000312134:p.Arg209*					PRG2_ENST00000533605.1_Nonsense_Mutation_p.R198*|PRG2_ENST00000525955.1_Nonsense_Mutation_p.R209*	p.R209*	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	698	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Nonsense_Mutation	SNP	ENST00000311862.5	37	c.625C>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881788	0.33255	2.27E-4	0.0	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	.	.	.	4.81	0.386	0.16254	.	1.264410	0.06125	N	0.669503	.	.	.	.	.	.	0.42832	D	0.994027	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8387	0.52342	0.0:0.0:0.3946:0.6054	.	.	.	.	X	209;198;209	.	ENSP00000312134:R209X	R	-	1	2	PRG2	56911568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.726000	0.04936	0.065000	0.16485	-0.158000	0.13435	CGA		0.592	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		52	33	0	0	0	1	0	52	33					A	57154992	G	A	57154992	4	1	56	1	0	0	0	0	0	1	0	0	12479	1066	37	2	47	2	PRG2	11	57154992	Nonsense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	38390069	57154992	77851524	16	1065										
SOX5	6660	broad.mit.edu	37	chr12	23818383	23818383	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	atcaacagtacttactacatCcagccttatagctgaagcct	5	12	1	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr12:23818383C>A	ENST00000451604.2	-	7	1027	c.926G>T	c.(925-927)gGa>gTa	p.G309V	SOX5_ENST00000546136.1_Missense_Mutation_p.G296V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V|SOX5_ENST00000545921.1_Missense_Mutation_p.G299V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	309					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTACTACATCCAGCCTTATA	0.478																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(886-888)gGa>gTa		SRY (sex determining region Y)-box 5							122	128	126					12																	23818383		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23818383C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.926G>T	12.37:g.23818383C>A	ENSP00000398273:p.Gly309Val					SOX5_ENST00000545921.1_Missense_Mutation_p.G299V|SOX5_ENST00000451604.2_Missense_Mutation_p.G309V|SOX5_ENST00000541536.1_Missense_Mutation_p.G296V|SOX5_ENST00000381381.2_Missense_Mutation_p.G296V|SOX5_ENST00000537393.1_Missense_Mutation_p.G274V|SOX5_ENST00000309359.1_Missense_Mutation_p.G296V	p.G296V			P35711	SOX5_HUMAN			6	889	-			309					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.887G>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773239	0.90108	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97430	-4.29;-4.29;-4.38;-4.29;-4.27;-4.38;-4.29	5.28	5.28	0.74379	.	0.393014	0.27478	N	0.019187	D	0.98005	0.9343	L	0.60455	1.87	0.80722	D	1	B;D;P	0.76494	0.192;0.999;0.56	B;D;B	0.87578	0.094;0.998;0.158	D	0.98285	1.0510	10	0.52906	T	0.07	.	19.0818	0.93186	0.0:1.0:0.0:0.0	.	274;296;309	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	V	296;296;296;309;261;274;296;299	ENSP00000437487:G296V;ENSP00000308927:G296V;ENSP00000370788:G296V;ENSP00000398273:G309V;ENSP00000439832:G274V;ENSP00000441973:G296V;ENSP00000443520:G299V	ENSP00000308927:G296V	G	-	2	0	SOX5	23709650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.733000	0.93635	0.655000	0.94253	GGA		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		95	118	1	0	3.82633e-55	1	4.13657e-55	95	118					A	23818383	C	A	23818383	3	1	56	1	0	0	0	0	1	0	0	0	14954	855	30	5	1411	5	SOX5	12	23818383	Missense_Mutation	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08		23818383	110033512	17	1066										
NR1H4	9971	broad.mit.edu	37	chr12	100904692	100904692	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tattattccaacctgggtttCtacccccagcagcctgaaga	7	13	1	2			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr12:100904692C>T	ENST00000551379.1	+	2	274	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000548884.1_Silent_p.F72F|NR1H4_ENST00000392986.3_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	82					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	ACCTGGGTTTCTACCCCCAGC	0.483																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(214-216)ttC>ttT		nuclear receptor subfamily 1, group H, member 4							85	77	80					12																	100904692		2203	4300	6503	SO:0001819	synonymous_variant	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100904692C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.246C>T	12.37:g.100904692C>T						NR1H4_ENST00000392986.3_Silent_p.F72F|NR1H4_ENST00000188403.7_Silent_p.F82F|NR1H4_ENST00000549996.1_Silent_p.F72F|NR1H4_ENST00000551379.1_Silent_p.F82F	p.F72F	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			4	757	+			82					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	c.216C>T	CCDS55876.1																																																																																				0.483	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		34	48	0	0	0	1	0	34	48					T	100904692	C	T	100904692	2	4	56	1	0	0	0	0	0	0	0	1	10619	912	32	3		3	NR1H4	12	100904692	Silent	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08	77086309	100904692	32947203	18	1067										
DOCK9	23348	broad.mit.edu	37	chr13	99533880	99533880	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	ggcaaccacatgaataatgaCcctacacaccacaggagtga	8	12	0	3			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr13:99533880C>T	ENST00000376460.1	-	25	2757	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	DOCK9_ENST00000448493.2_Splice_Site_p.V905I|DOCK9_ENST00000339416.2_Splice_Site_p.V894I|DOCK9_ENST00000442173.1_Splice_Site_p.V893I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	894					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGAATAATGACCCTACACACC	0.388																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e25-1		dedicator of cytokinesis 9							78	72	74					13																	99533880		1944	4133	6077	SO:0001630	splice_region_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99533880C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2676-1G>A	13.37:g.99533880C>T						DOCK9_ENST00000448493.2_Splice_Site_p.V905_splice|DOCK9_ENST00000339416.2_Splice_Site_p.V894_splice|DOCK9_ENST00000442173.1_Splice_Site_p.V893_splice	p.V893_splice	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			25	2757	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		894					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Splice_Site	SNP	ENST00000376460.1	37	c.2675_splice	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333563	0.95758	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.67171	-0.25;-0.25;-0.1;2.02	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	M	0.86953	2.85	0.80722	D	1	P;P;P;B;P	0.45569	0.861;0.849;0.691;0.071;0.849	P;P;P;B;B	0.54401	0.677;0.751;0.566;0.413;0.443	D	0.84635	0.0692	10	0.72032	D	0.01	.	19.6793	0.95956	0.0:1.0:0.0:0.0	.	894;893;893;893;894	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	I	893;894;894;894;893;894;905;893	ENSP00000365643:V893I;ENSP00000341086:V894I;ENSP00000401958:V905I;ENSP00000406883:V893I	ENSP00000341086:V894I	V	-	1	0	DOCK9	98331881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.405000	0.80007	2.713000	0.92767	0.655000	0.94253	GTC		0.388	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	Missense_Mutation	3	8	0	0	0	1	0	3	8					T	99533880	C	T	99533880	5	4	56	1	0	0	0	0	0	0	1	0	4694	521	18	3	3718	3	DOCK9	13	99533880	Splice_Site	SNP	C	TCGA-QT-A5XJ-01A-11D-A35D-08		99533880	15635998	19	1068										
HECTD1	25831	broad.mit.edu	37	chr14	31581747	31581747	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	ccacttgccagtgccaatggTtcctgcgaattaacaaataa	7	11	0	0			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr14:31581747T>A	ENST00000399332.1	-	35	6641	c.6153A>T	c.(6151-6153)gaA>gaT	p.E2051D	HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2051	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGCCAATGGTTCCTGCGAAT	0.378																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6151-6153)gaA>gaT		HECT domain containing E3 ubiquitin protein ligase 1							54	52	52					14																	31581747		1892	4114	6006	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31581747T>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6153A>T	14.37:g.31581747T>A	ENSP00000382269:p.Glu2051Asp					HECTD1_ENST00000553700.1_Missense_Mutation_p.E2051D	p.E2051D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	35	6641	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2051			K-box.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6153A>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.745|4.745	0.138497|0.138497	0.09083|0.09083	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882	T;T|.	0.07216|.	3.21;3.21|.	5.74|5.74	-2.36|-2.36	0.06663|0.06663	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.33440|0.33440	0.0863|0.0863	N|N	0.11427|0.11427	0.14|0.14	0.52501|0.52501	D|D	0.999952|0.999952	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.07770|0.07770	-1.0755|-1.0755	10|5	0.02654|.	T|.	1|.	-16.0074|-16.0074	12.4911|12.4911	0.55901|0.55901	0.0:0.4458:0.0:0.5542|0.0:0.4458:0.0:0.5542	.|.	2051|.	Q9ULT8|.	HECD1_HUMAN|.	D|I	2051;2053;2051|417	ENSP00000450697:E2051D;ENSP00000382269:E2051D|.	ENSP00000261312:E2053D|.	E|N	-|-	3|2	2|0	HECTD1|HECTD1	30651498|30651498	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.678000|0.678000	0.39670|0.39670	0.747000|0.747000	0.26290|0.26290	-0.402000|-0.402000	0.07633|0.07633	0.460000|0.460000	0.39030|0.39030	GAA|AAC		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			36	36	0	0	0	1	0	36	36					A	31581747	T	A	31581747	3	1	56	1	0	0	0	0	1	0	0	0	7039	1722	60	5	1715	5	HECTD1	14	31581747	Missense_Mutation	SNP	T	TCGA-QT-A5XJ-01A-11D-A35D-08		31581747	75767793	20	1069										
RPS6KA5	9252	broad.mit.edu	37	chr14	91338482	91338482	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tgctgtcggcaggattgctgGgctgcagtgtcttggtgggt	18	7	1	0			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr14:91338482G>T	ENST00000261991.3	-	17	2518	c.2345C>A	c.(2344-2346)cCc>cAc	p.P782H	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	782					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGGATTGCTGGGCTGCAGTGT	0.522																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2344-2346)cCc>cAc		ribosomal protein S6 kinase, 90kDa, polypeptide 5							135	121	126					14																	91338482		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338482G>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2345C>A	14.37:g.91338482G>T	ENSP00000261991:p.Pro782His					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P703H	p.P782H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2518	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	782					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2345C>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891211	0.72524	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.68331	-0.32;-0.31	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.059810	0.64402	D	0.000002	T	0.70116	0.3187	L	0.33485	1.01	0.80722	D	1	D	0.63046	0.992	P	0.54401	0.751	T	0.73949	-0.3821	10	0.87932	D	0	.	19.2225	0.93803	0.0:0.0:1.0:0.0	.	782	O75582	KS6A5_HUMAN	H	782;703	ENSP00000261991:P782H;ENSP00000442803:P703H	ENSP00000261991:P782H	P	-	2	0	RPS6KA5	90408235	1.000000	0.71417	0.966000	0.40874	0.476000	0.33039	6.278000	0.72614	2.611000	0.88343	0.655000	0.94253	CCC		0.522	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		80	39	1	0	5.72124e-26	1	6.02236e-26	80	39					T	91338482	G	T	91338482	3	4	56	1	0	0	0	0	1	0	0	0	13654	1232	43	5	67	5	RPS6KA5	14	91338482	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	59756735	91338482	16011058	21	1070										
DUOX1	53905	broad.mit.edu	37	chr15	45440569	45440569	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	ggattccaggacaaggaggaActgacatgggaagattttca	13	6	1	2			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr15:45440569A>G	ENST00000321429.4	+	22	3149	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	DUOX1_ENST00000389037.3_Silent_p.E914E|DUOX1_ENST00000561166.1_Silent_p.E560E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	914	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAAGGAGGAACTGACATGGG	0.572																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2740-2742)gaA>gaG		dual oxidase 1							125	114	118					15																	45440569		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45440569A>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2742A>G	15.37:g.45440569A>G						DUOX1_ENST00000389037.3_Silent_p.E914E|DUOX1_ENST00000561166.1_Silent_p.E560E	p.E914E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	22	3149	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	914			EF-hand 3.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.2742A>G	CCDS32221.1																																																																																				0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	75	0	0	0	1	0	4	75					G	45440569	A	G	45440569	2	3	56	1	0	0	0	0	0	0	0	1	4800	40	2	4		4	DUOX1	15	45440569	Silent	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08		45440569	57090823	22	1071										
GLOD4	51031	broad.mit.edu	37	chr17	680227	680227	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	actccatttcccatcataagGcctagaaaataaaagtaaat	4	9	1	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:680227G>T	ENST00000301328.5	-	4	210	c.187C>A	c.(187-189)Cct>Act	p.P63T	GLOD4_ENST00000536578.1_Splice_Site_p.P39T|GLOD4_ENST00000301329.6_Splice_Site_p.P48T			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	63						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCATCATAAGGCCTAGAAAAT	0.453																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.e3-1		glyoxalase domain containing 4							111	96	101					17																	680227		2203	4300	6503	SO:0001630	splice_region_variant	51031					mitochondrion		g.chr17:680227G>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 25"	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.186-1C>A	17.37:g.680227G>T						GLOD4_ENST00000301328.5_Splice_Site_p.P63_splice|GLOD4_ENST00000536578.1_Splice_Site_p.P39_splice	p.P48_splice	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	3	227	-			63					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Splice_Site	SNP	ENST00000301328.5	37	c.140_splice		.	.	.	.	.	.	.	.	.	.	G	27.9	4.872655	0.91587	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.62232	0.05;0.04;0.04	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	L	0.31207	0.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.74697	-0.3578	10	0.87932	D	0	-11.4865	18.2547	0.90015	0.0:0.0:1.0:0.0	.	39;63;48	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	T	48;251;63;39	ENSP00000301329:P48T;ENSP00000301328:P63T;ENSP00000444315:P39T	ENSP00000301328:P63T	P	-	1	0	GLOD4	626977	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.492000	0.97957	2.549000	0.85964	0.655000	0.94253	CCT		0.453	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	Missense_Mutation	35	38	1	0	2.20262e-25	1	2.2591e-25	35	38					T	680227	G	T	680227	5	4	56	1	0	0	0	0	0	0	1	0	6450	1217	42	5	782	5	GLOD4	17	680227	Splice_Site	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		680227	80514983	23	1072										
POLR2A	5430	broad.mit.edu	37	chr17	7417036	7417036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	cacaccacagtctccaacctAtaccccaagctcacccagct	3	20	2	0			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:7417036A>G	ENST00000322644.6	+	29	5852	c.5453A>G	c.(5452-5454)tAt>tGt	p.Y1818C		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1818	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCTCCAACCTATACCCCAAGC	0.582																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5452-5454)tAt>tGt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							313	295	301					17																	7417036		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417036A>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5453A>G	17.37:g.7417036A>G	ENSP00000314949:p.Tyr1818Cys						p.Y1818C	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5852	+		Prostate(122;0.173)	1818			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5453A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358200	0.41801	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.73258	-0.73	3.4	3.4	0.38934	.	0.000000	0.41938	U	0.000784	D	0.82783	0.5112	M	0.92122	3.275	0.80722	D	1	P	0.51240	0.943	P	0.54706	0.759	D	0.85907	0.1438	10	0.56958	D	0.05	.	11.3013	0.49306	1.0:0.0:0.0:0.0	.	1818	P24928	RPB1_HUMAN	C	1774;717;1818	ENSP00000314949:Y1818C	ENSP00000314949:Y1818C	Y	+	2	0	SLC35G6	7357760	1.000000	0.71417	0.986000	0.45419	0.973000	0.67179	6.032000	0.70918	1.567000	0.49668	0.248000	0.18094	TAT		0.582	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		117	147	0	0	0	1	0	117	147					G	7417036	A	G	7417036	3	3	56	1	0	0	0	0	1	0	0	0	12214	449	16	4	5567	4	POLR2A	17	7417036	Missense_Mutation	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08	6736809	7417036	73778174	24	1073										
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	138	0	0	0	1	0	5	138					C	33520392	G	C	33520392	3	2	56	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	26103356	33520392	47674818	25	1074										
FDXR	2232	broad.mit.edu	37	chr17	72868221	72868221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	ctgcccaccacacagatctgGggggtcttctcctgtgtgga	12	13	3	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr17:72868221G>A	ENST00000293195.5	-	2	195	c.117C>T	c.(115-117)ccC>ccT	p.P39P	FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000581530.1_Silent_p.P39P|FDXR_ENST00000582944.1_Silent_p.P39P|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000583917.1_Silent_p.P39P|FDXR_ENST00000442102.2_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	39					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CACAGATCTGGGGGGTCTTCT	0.547																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(115-117)ccC>ccT		ferredoxin reductase							49	49	49					17																	72868221		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72868221G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.117C>T	17.37:g.72868221G>A						FDXR_ENST00000413947.2_Silent_p.P70P|FDXR_ENST00000420580.2_Silent_p.P39P|FDXR_ENST00000581530.1_Silent_p.P39P|FDXR_ENST00000293195.5_Silent_p.P39P|FDXR_ENST00000582944.1_Silent_p.P39P|FDXR_ENST00000583917.1_Silent_p.P39P|FDXR_ENST00000455107.2_5'UTR	p.P39P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			2	203	-	all_lung(278;0.172)|Lung NSC(278;0.207)		39					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.117C>T	CCDS58593.1																																																																																				0.547	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		11	22	0	0	0	1	0	11	22					A	72868221	G	A	72868221	2	1	56	1	0	0	0	0	0	0	0	1	5807	1219	43	3		3	FDXR	17	72868221	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	39347829	72868221	8326989	26	1075										
EPOR	2057	broad.mit.edu	37	chr19	11492639	11492639	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	gtggatgacacggtgatatcGcggagcgccggaggctgctg	18	9	0	2			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:11492639G>A	ENST00000222139.6	-	3	498	c.394C>T	c.(394-396)Cga>Tga	p.R132*	EPOR_ENST00000592375.2_Nonsense_Mutation_p.R132*	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	132					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CGGTGATATCGCGGAGCGCCG	0.617											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(394-396)Cga>Tga		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						65	56	59					19																	11492639		2203	4300	6503	SO:0001587	stop_gained	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492639G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.394C>T	19.37:g.11492639G>A	ENSP00000222139:p.Arg132*		OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000222139.6_Nonsense_Mutation_p.R132*	p.R132*			P19235	EPOR_HUMAN			3	498	-			132					B2RCG4|Q15443|Q2M205	Nonsense_Mutation	SNP	ENST00000222139.6	37	c.394C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543544	0.86022	.	.	ENSG00000187266	ENST00000222139	.	.	.	3.49	1.12	0.20585	.	0.657976	0.14915	N	0.291027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-35.4346	4.0769	0.09908	0.1392:0.248:0.6129:0.0	.	.	.	.	X	132	.	ENSP00000222139:R132X	R	-	1	2	EPOR	11353639	0.043000	0.20138	0.001000	0.08648	0.174000	0.22865	1.394000	0.34509	0.832000	0.34804	0.305000	0.20034	CGA		0.617	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			11	27	0	0	0	1	0	11	27					A	11492639	G	A	11492639	4	1	56	1	0	0	0	0	0	1	0	0	5189	1095	38	1	1156	1	EPOR	19	11492639	Nonsense_Mutation	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		11492639	47636344	27	1076										
PKN1	5585	broad.mit.edu	37	chr19	14574926	14574926	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	gactcggacagctcacctcaGaagagctcgcgggatcctcc	11	15	2	2			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:14574926G>A	ENST00000242783.6	+	12	1857	c.1692G>A	c.(1690-1692)caG>caA	p.Q564Q	PKN1_ENST00000342216.4_Silent_p.Q570Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	564					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTCACCTCAGAAGAGCTCGC	0.647																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1690-1692)caG>caA		protein kinase N1							69	73	71					19																	14574926		2037	4187	6224	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574926G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1692G>A	19.37:g.14574926G>A						PKN1_ENST00000342216.4_Silent_p.Q570Q	p.Q564Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			12	1857	+			564					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1692G>A	CCDS42513.1																																																																																				0.647	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		49	57	0	0	0	1	0	49	57					A	14574926	G	A	14574926	2	1	56	1	0	0	0	0	0	0	0	1	11979	933	33	3		3	PKN1	19	14574926	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08	3082287	14574926	44554057	28	1077										
ZNF676	163223	broad.mit.edu	37	chr19	22364263	22364263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	gttacactcatccacattggTacaactaatttttaagtgta	5	8	1	0			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr19:22364263T>C	ENST00000397121.2	-	3	573	c.256A>G	c.(256-258)Acc>Gcc	p.T86A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCCACATTGGTACAACTAATT	0.338																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(256-258)Acc>Gcc		zinc finger protein 676							110	102	104					19																	22364263		1954	4162	6116	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364263T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.256A>G	19.37:g.22364263T>C	ENSP00000380310:p.Thr86Ala						p.T86A	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	573	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	86					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.256A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	1.934	-0.445182	0.04604	.	.	ENSG00000196109	ENST00000397121	T	0.06933	3.24	0.113	0.113	0.14631	.	.	.	.	.	T	0.04227	0.0117	N	0.02011	-0.69	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.39761	-0.9598	8	0.17369	T	0.5	.	.	.	.	.	86	Q8N7Q3	ZN676_HUMAN	A	86	ENSP00000380310:T86A	ENSP00000380310:T86A	T	-	1	0	ZNF676	22156103	0.001000	0.12720	0.061000	0.19648	0.246000	0.25737	0.606000	0.24194	0.158000	0.19367	0.156000	0.16432	ACC		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		56	76	0	0	0	1	0	56	76					C	22364263	T	C	22364263	3	2	56	1	0	0	0	0	1	0	0	0	18080	1638	57	4	1514	4	ZNF676	19	22364263	Missense_Mutation	SNP	T	TCGA-QT-A5XJ-01A-11D-A35D-08	7789337	22364263	36764720	29	1078										
MATN4	8785	broad.mit.edu	37	chr20	43933259	43933259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	aacgcgcggagagggaagacGctctgcacttgactcgaata	13	10	1	3			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr20:43933259G>A	ENST00000372754.1	-	2	260	c.252C>T	c.(250-252)agC>agT	p.S84S	MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000372756.1_Silent_p.S84S|MATN4_ENST00000360607.6_Silent_p.S84S|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000537548.1_Silent_p.S84S|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000353917.5_Silent_p.S84S			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GAGGGAAGACGCTCTGCACTT	0.652																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(250-252)agC>agT		matrilin 4							38	35	36					20																	43933259		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933259G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.252C>T	20.37:g.43933259G>A						MATN4_ENST00000372754.1_Silent_p.S84S|MATN4_ENST00000372756.1_Silent_p.S84S|MATN4_ENST00000342716.4_Silent_p.S84S|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Silent_p.S84S|MATN4_ENST00000353917.5_Silent_p.S84S	p.S84S			O95460	MATN4_HUMAN			4	496	-		Myeloproliferative disorder(115;0.0122)	84			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.252C>T																																																																																					0.652	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			23	26	0	0	0	1	0	23	26					A	43933259	G	A	43933259	2	1	56	1	0	0	0	0	0	0	0	1	9336	1078	38	1		1	MATN4	20	43933259	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		43933259	19092261	30	1079										
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971176	31971176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	tggtcgccgtagtagtttccGtagtagctgccgcacatcgt	12	11	0	0	rs375803106		TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chr21:31971176G>A	ENST00000334897.3	-	1	43	c.18C>T	c.(16-18)taC>taT	p.Y6Y	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	6						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGTTTCCGTAGTAGCTGC	0.522																																						ENST00000334897.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(16-18)taC>taT		keratin associated protein 6-2							201	166	178					21																	31971176		2203	4300	6503	SO:0001819	synonymous_variant	337967					intermediate filament		g.chr21:31971176G>A	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"Keratin associated proteins"	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.18C>T	21.37:g.31971176G>A							p.Y6Y	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	43	-			6						Silent	SNP	ENST00000334897.3	37	c.18C>T	CCDS13600.1																																																																																				0.522	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			30	40	0	0	0	1	0	30	40					A	31971176	G	A	31971176	2	1	56	1	0	0	0	0	0	0	0	1	8570	1140	40	1		1	KRTAP6-2	21	31971176	Silent	SNP	G	TCGA-QT-A5XJ-01A-11D-A35D-08		31971176	16158719	31	1080										
TBC1D8B	54885	broad.mit.edu	37	chrX	106082536	106082536	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	2	1	1.06161971830986	0	1.54417413572343	0.333333333333333	1	0	aactacattctttctttttcAgcttgctattagttctgagt	5	8	4	1			TCGA-QT-A5XJ-01A-11D-A35D-08	TCGA-QT-A5XJ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec08ec68-ebde-4429-93af-4578fc2fd8aa	e50d344a-a901-4193-81dc-d3697deedacf	g.chrX:106082536A>G	ENST00000357242.5	+	8	1377		c.e8-1		TBC1D8B_ENST00000276175.3_Intron|TBC1D8B_ENST00000310452.2_Splice_Site	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)								calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCTTTTTCAGCTTGCTATT	0.363																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e8-1		TBC1 domain family, member 8B (with GRAM domain)							141	131	134					X																	106082536		2203	4300	6503	SO:0001630	splice_region_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106082536A>G	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1204-1A>G	X.37:g.106082536A>G						TBC1D8B_ENST00000310452.2_Splice_Site|TBC1D8B_ENST00000276175.3_Intron		NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			8	1377	+								B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Splice_Site	SNP	ENST00000357242.5	37		CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684030	0.47991	.	.	ENSG00000133138	ENST00000357242;ENST00000310452	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8539	0.52427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D8B	105969192	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	5.667000	0.68067	1.818000	0.53035	0.417000	0.27973	.		0.363	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	Intron	4	95	0	0	0	1	0	4	95					G	106082536	A	G	106082536	5	3	56	1	0	0	0	0	0	0	1	0	15623	202	7	4	1232	4	TBC1D8B	23	106082536	Splice_Site	SNP	A	TCGA-QT-A5XJ-01A-11D-A35D-08		106082536	49188024	32	1081										
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	973	0	0	0	1	0	9	973					G	152128186	A	G	152128186	2	3	57	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08		152128186	97122435	1	1082										
POTEF	728378	broad.mit.edu	37	chr2	130877845	130877845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtcgtcgtggtctccagaagCgcccacgttgctcttgccac	11	15	2	1			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr2:130877845C>T	ENST00000409914.2	-	3	643	c.244G>A	c.(244-246)Gct>Act	p.A82T	POTEF_ENST00000361163.4_Missense_Mutation_p.A82T|POTEF_ENST00000357462.5_Missense_Mutation_p.A82T|POTEF_ENST00000360967.5_Missense_Mutation_p.A82T	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	82					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTCCAGAAGCGCCCACGTTG	0.602																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(244-246)Gct>Act		POTE ankyrin domain family, member F							92	123	113					2																	130877845		2202	4294	6496	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877845C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.244G>A	2.37:g.130877845C>T	ENSP00000386786:p.Ala82Thr					POTEF_ENST00000360967.5_Missense_Mutation_p.A82T|POTEF_ENST00000361163.4_Missense_Mutation_p.A82T|POTEF_ENST00000409914.2_Missense_Mutation_p.A82T	p.A82T			A5A3E0	POTEF_HUMAN			1	337	-			82					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.244G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.989305	0.00439	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.75260	-0.92;-0.92;1.92;1.91	0.586	0.586	0.17434	.	.	.	.	.	T	0.32041	0.0816	N	0.01505	-0.83	0.09310	N	1	P	0.52463	0.953	B	0.32149	0.141	T	0.45011	-0.9290	8	0.02654	T	1	.	.	.	.	.	82	A5A3E0	POTEF_HUMAN	T	82	ENSP00000350052:A82T;ENSP00000386786:A82T;ENSP00000354232:A82T;ENSP00000355012:A82T	ENSP00000350052:A82T	A	-	1	0	POTEF	130594315	0.000000	0.05858	0.002000	0.10522	0.090000	0.18270	-0.188000	0.09642	0.590000	0.29694	0.152000	0.16155	GCT		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		5	388	0	0	0	1	0	5	388					T	130877845	C	T	130877845	3	4	57	1	0	0	0	0	1	0	0	0	12265	768	27	1	3043	1	POTEF	2	130877845	Missense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08		130877845	112321528	2	1083										
SMPD4	55627	broad.mit.edu	37	chr2	130930857	130930857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtggtttacttacaggcaAgtaggagacaggaaagtcga	13	6	0	1	rs557431954	byFrequency	TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr2:130930857A>G	ENST00000409031.1	-	5	1605	c.457T>C	c.(457-459)Ttg>Ctg	p.L153L	SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000351288.6_Silent_p.L153L|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000431183.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	114					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTTACAGGCAAGTAGGAGACA	0.488													.|||	4	0.000798722	0	0	5008	,	,		20338	0		0.004	False		,,,				2504	0					ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(457-459)Ttg>Ctg		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						120	118	119					2																	130930857		2203	4300	6503	SO:0001819	synonymous_variant	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130930857A>G	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.457T>C	2.37:g.130930857A>G						SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000351288.6_Silent_p.L153L|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000426662.2_Intron	p.L153L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			5	1605	-	Colorectal(110;0.1)		114					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	c.457T>C	CCDS42751.1																																																																																				0.488	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		4	116	0	0	0	1	0	4	116					G	130930857	A	G	130930857	2	3	57	1	0	0	0	0	0	0	0	1	14807	69	3	4		4	SMPD4	2	130930857	Silent	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08	53012	130930857	112268516	3	1084										
CPS1	1373	broad.mit.edu	37	chr2	211473267	211473267	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagccgaattggtagctctaTgaaaagtgtaggagaggtga	14	4	1	3			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr2:211473267T>C	ENST00000233072.5	+	19	2571	c.2375T>C	c.(2374-2376)aTg>aCg	p.M792T	CPS1_ENST00000451903.2_Missense_Mutation_p.M341T|CPS1_ENST00000430249.2_Missense_Mutation_p.M798T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	792			M -> I (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GGTAGCTCTATGAAAAGTGTA	0.418																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2374-2376)aTg>aCg		carbamoyl-phosphate synthase 1, mitochondrial							125	122	123					2																	211473267		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211473267T>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2375T>C	2.37:g.211473267T>C	ENSP00000233072:p.Met792Thr					CPS1_ENST00000430249.2_Missense_Mutation_p.M798T|CPS1_ENST00000451903.2_Missense_Mutation_p.M341T	p.M792T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	19	2571	+			792					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2375T>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173757	0.78452	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97976	-4.64;-4.64;-4.64	5.86	5.86	0.93980	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	H	0.94847	3.59	0.80722	D	1	P;P	0.43938	0.822;0.822	P;P	0.45639	0.488;0.488	D	0.99616	1.0982	10	0.87932	D	0	-9.8479	16.5602	0.84551	0.0:0.0:0.0:1.0	.	802;792	Q59HF8;P31327	.;CPSM_HUMAN	T	798;800;792;341	ENSP00000402608:M798T;ENSP00000233072:M792T;ENSP00000406136:M341T	ENSP00000233072:M792T	M	+	2	0	CPS1	211181512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.367000	0.80283	0.528000	0.53228	ATG		0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			4	117	0	0	0	1	0	4	117					C	211473267	T	C	211473267	3	2	57	1	0	0	0	0	1	0	0	0	3823	1464	51	4	2471	4	CPS1	2	211473267	Missense_Mutation	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08	80542410	211473267	31726106	4	1085										
HRG	3273	broad.mit.edu	37	chr3	186395480	186395480	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatctgtgtaccgactcccTcctctaagaaaaggtgaggt	11	10	2	2			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr3:186395480T>C	ENST00000232003.4	+	7	1466	c.1386T>C	c.(1384-1386)ccT>ccC	p.P462P		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	462	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACCGACTCCCTCCTCTAAGAA	0.552																																						ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1384-1386)ccT>ccC		histidine-rich glycoprotein							100	98	99					3																	186395480		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395480T>C		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1386T>C	3.37:g.186395480T>C							p.P462P	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1466	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		462			His/Pro-rich (HRR).		B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.1386T>C	CCDS3280.1																																																																																				0.552	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		37	30	0	0	0	1	0	37	30					C	186395480	T	C	186395480	2	2	57	1	0	0	0	0	0	0	0	1	7354	1538	54	4		4	HRG	3	186395480	Silent	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08		186395480	11626950	5	1086										
KIAA1530	57654	broad.mit.edu	37	chr4	1343499	1343499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcacgctgggcacagaccccGcacagcctctgccgcccccc	9	22	2	1			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr4:1343499G>A	ENST00000389851.4	+	3	733	c.286G>A	c.(286-288)Gca>Aca	p.A96T	UVSSA_ENST00000511216.1_Missense_Mutation_p.A96T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A96T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	96	VHS-like.				protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CACAGACCCCGCACAGCCTCT	0.627																																						ENST00000389851.4																			0											c.(286-288)Gca>Aca		UV-stimulated scaffold protein A							40	41	40					4																	1343499		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1343499G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.286G>A	4.37:g.1343499G>A	ENSP00000374501:p.Ala96Thr					UVSSA_ENST00000511216.1_Missense_Mutation_p.A96T|UVSSA_ENST00000507531.1_Missense_Mutation_p.A96T	p.A96T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			3	733	+			96					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.286G>A	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005437	0.35415	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.22134	1.97;1.97;1.97	4.98	3.19	0.36642	.	0.276343	0.39687	N	0.001288	T	0.07234	0.0183	N	0.03608	-0.345	0.80722	D	1	P	0.41643	0.758	B	0.29077	0.098	T	0.29027	-1.0025	10	0.62326	D	0.03	.	9.2746	0.37692	0.076:0.0:0.7789:0.1451	.	96	Q2YD98	K1530_HUMAN	T	96	ENSP00000425130:A96T;ENSP00000374501:A96T;ENSP00000421741:A96T	ENSP00000374501:A96T	A	+	1	0	KIAA1530	1333499	0.990000	0.36364	0.015000	0.15790	0.076000	0.17211	3.472000	0.53114	0.464000	0.27142	0.655000	0.94253	GCA		0.627	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	47	0	0	0	1	0	3	47					A	1343499	G	A	1343499	3	1	57	1	0	0	0	0	1	0	0	0	8241	1087	38	1	292	1	KIAA1530	4	1343499	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		1343499	189810777	6	1087										
GC	2638	broad.mit.edu	37	chr4	72629626	72629626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgacagaggagcttgtccGtaattagtggaatattccca	11	7	0	2	rs149884974	byFrequency	TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr4:72629626G>A	ENST00000273951.8	-	5	844	c.501C>T	c.(499-501)taC>taT	p.Y167Y	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.Y186Y|GC_ENST00000513476.1_Silent_p.Y167Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	167	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.Y167Y(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GAGCTTGTCCGTAATTAGTGG	0.363													g|||	2	0.000399361	0.0015	0	5008	,	,		17704	0		0	False		,,,				2504	0					ENST00000273951.8																			1	Substitution - coding silent(1)	p.Y167Y(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(499-501)taC>taT		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)	A	,,	12,4394	19.1+/-41.9	0,12,2191	84	87	86		501,501,558	-1.2	1	4	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GC	NM_000583.3,NM_001204306.1,NM_001204307.1	,,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,,	167/475,167/475,186/494	72629626	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72629626G>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.501C>T	4.37:g.72629626G>A						GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.Y167Y|GC_ENST00000504199.1_Silent_p.Y186Y	p.Y167Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		5	844	-		all_hematologic(202;0.107)	167			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.501C>T	CCDS3550.1																																																																																				0.363	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			9	83	0	0	0	1	0	9	83					A	72629626	G	A	72629626	2	1	57	1	0	0	0	0	0	0	0	1	6282	1140	40	1		1	GC	4	72629626	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	71286127	72629626	118524650	7	1088										
CDH6	1004	broad.mit.edu	37	chr5	31299603	31299603	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cagctttgctcaacatggatCgagaaaacagggagcagtac	11	9	1	1			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr5:31299603C>T	ENST00000265071.2	+	5	941	c.676C>T	c.(676-678)Cga>Tga	p.R226*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.R171*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACATGGATCGAGAAAACAG	0.438																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(676-678)Cga>Tga		cadherin 6, type 2, K-cadherin (fetal kidney)							145	137	140					5																	31299603		2203	4300	6503	SO:0001587	stop_gained	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31299603C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.676C>T	5.37:g.31299603C>T	ENSP00000265071:p.Arg226*					CDH6_ENST00000514738.1_Nonsense_Mutation_p.R171*	p.R226*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			5	941	+			226			Cadherin 2.		A8K5H5|Q9BWS0	Nonsense_Mutation	SNP	ENST00000265071.2	37	c.676C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	40	8.217388	0.98712	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	.	.	.	6.07	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1435	0.65334	0.3643:0.6357:0.0:0.0	.	.	.	.	X	171;226	.	ENSP00000265071:R226X	R	+	1	2	CDH6	31335360	0.941000	0.31946	1.000000	0.80357	0.993000	0.82548	0.091000	0.15046	2.885000	0.99019	0.655000	0.94253	CGA		0.438	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		4	82	0	0	0	1	0	4	82					T	31299603	C	T	31299603	4	4	57	1	0	0	0	0	0	1	0	0	3114	876	31	2	690	2	CDH6	5	31299603	Nonsense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08		31299603	149615657	8	1089										
DHX29	54505	broad.mit.edu	37	chr5	54579230	54579230	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctgccacaaccactaccCgatgccttttaagagtttca	5	15	1	1	rs187247676		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr5:54579230C>T	ENST00000251636.5	-	11	1914	c.1766G>A	c.(1765-1767)cGg>cAg	p.R589Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	589	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AACCACTACCCGATGCCTTTT	0.398													C|||	1	0.000199681	0	0	5008	,	,		20488	0		0.001	False		,,,				2504	0					ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(1765-1767)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 29		C	GLN/ARG	0,4406		0,0,2203	121	128	125		1766	4.9	1	5		125	2,8596	2.2+/-6.3	0,2,4297	yes	missense	DHX29	NM_019030.2	43	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	589/1370	54579230	2,13002	2203	4299	6502	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579230C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1766G>A	5.37:g.54579230C>T	ENSP00000251636:p.Arg589Gln					RP11-506H20.1_ENST00000506435.1_RNA	p.R589Q	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			11	1914	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	589			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.1766G>A	CCDS34158.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.02	2.111602	0.37242	0.0	2.33E-4	ENSG00000067248	ENST00000251636	T	0.03982	3.74	5.74	4.87	0.63330	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.114438	0.64402	D	0.000018	T	0.01254	0.0041	N	0.00427	-1.505	0.44366	D	0.99726	P	0.42375	0.778	B	0.31946	0.138	T	0.55541	-0.8125	10	0.05620	T	0.96	.	16.713	0.85389	0.0:0.8704:0.1296:0.0	.	589	Q7Z478	DHX29_HUMAN	Q	589	ENSP00000251636:R589Q	ENSP00000251636:R589Q	R	-	2	0	DHX29	54614987	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.707000	0.61852	1.409000	0.46915	-0.282000	0.10007	CGG		0.398	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		5	202	0	0	0	1	0	5	202					T	54579230	C	T	54579230	3	4	57	1	0	0	0	0	1	0	0	0	4503	652	23	2	2411	2	DHX29	5	54579230	Missense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08	23279627	54579230	126336030	9	1090										
PCDHB5	26167	broad.mit.edu	37	chr5	140517245	140517245	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgtgagcggcaccgggacCctatcccagagctaccacta	11	15	0	2			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr5:140517245C>T	ENST00000231134.5	+	1	2446	c.2229C>T	c.(2227-2229)acC>acT	p.T743T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	743					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCGGGACCCTATCCCAGA	0.642																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2227-2229)acC>acT									96	115	109					5																	140517245		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517245C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2229C>T	5.37:g.140517245C>T							p.T743T	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2446	+			743					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.2229C>T	CCDS4247.1																																																																																				0.642	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		26	236	0	0	0	1	0	26	236					T	140517245	C	T	140517245	2	4	57	1	0	0	0	0	0	0	0	1	11545	610	22	3		3	PCDHB5	5	140517245	Silent	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08	85938015	140517245	40398015	10	1091										
ROS1	6098	broad.mit.edu	37	chr6	117662679	117662679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagggccaggtgtgagattgCcaactgataacggactgatt	13	7	0	3			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr6:117662679C>T	ENST00000368508.3	-	29	4984	c.4786G>A	c.(4786-4788)Gca>Aca	p.A1596T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A1590T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1596	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGAGATTGCCAACTGATAA	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"O, E"	"GOPC, SDC4, SLC34A2, EZR, LRIG3"		"glioblastoma, NSCLC"	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4786-4788)Gca>Aca		c-ros oncogene 1 , receptor tyrosine kinase							192	171	178					6																	117662679		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117662679C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4786G>A	6.37:g.117662679C>T	ENSP00000357494:p.Ala1596Thr					ROS1_ENST00000368507.3_Missense_Mutation_p.A1590T|GOPC_ENST00000467125.1_Intron	p.A1596T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	29	4984	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1596			Fibronectin type-III 7.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4786G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249071	0.05867	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.52526	0.66;0.66	5.11	4.23	0.50019	.	0.432597	0.21624	N	0.071589	T	0.14743	0.0356	N	0.24115	0.695	0.52501	D	0.999958	P	0.34522	0.455	B	0.27608	0.081	T	0.05022	-1.0911	10	0.22109	T	0.4	.	9.8939	0.41306	0.0:0.9019:0.0:0.0981	.	1596	P08922	ROS1_HUMAN	T	1596;1590	ENSP00000357494:A1596T;ENSP00000357493:A1590T	ENSP00000357493:A1590T	A	-	1	0	ROS1	117769372	0.003000	0.15002	0.769000	0.31535	0.697000	0.40408	0.040000	0.13905	2.390000	0.81377	0.655000	0.94253	GCA		0.438	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	95	0	0	0	1	0	4	95					T	117662679	C	T	117662679	3	4	57	1	0	0	0	0	1	0	0	0	13531	739	26	3	2317	3	ROS1	6	117662679	Missense_Mutation	SNP	C	TCGA-QT-A5XK-01A-11D-A35D-08		117662679	53452388	11	1092										
CRB2	286204	broad.mit.edu	37	chr9	126133381	126133381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacctttggcttgggaggcGccccaagctctgcctccttt	10	16	1	0	rs372093386		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr9:126133381G>A	ENST00000373631.3	+	8	1961	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	CRB2_ENST00000359999.3_Missense_Mutation_p.A654T|CRB2_ENST00000373629.2_Missense_Mutation_p.A322T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	654	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTTGGGAGGCGCCCCAAGCTC	0.617																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1960-1962)Gcc>Acc		crumbs homolog 2 (Drosophila)		G	THR/ALA	1,4405		0,1,2202	81	91	87		1960	-5.9	0	9		87	0,8600		0,0,4300	no	missense	CRB2	NM_173689.5	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	654/1286	126133381	1,13005	2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133381G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1960G>A	9.37:g.126133381G>A	ENSP00000362734:p.Ala654Thr					CRB2_ENST00000373629.2_Missense_Mutation_p.A322T|CRB2_ENST00000359999.3_Missense_Mutation_p.A654T	p.A654T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	1961	+			654			Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1960G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.889265	0.00527	2.27E-4	0.0	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79033	-1.23;-1.23;-1.23	5.16	-5.86	0.02304	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.130590	0.06759	N	0.781497	T	0.45054	0.1323	N	0.02865	-0.47	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.001;0.002	T	0.51671	-0.8676	10	0.02654	T	1	.	8.2962	0.31986	0.3099:0.0:0.5411:0.149	.	654;654	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	654;654;322	ENSP00000353092:A654T;ENSP00000362734:A654T;ENSP00000362732:A322T	ENSP00000353092:A654T	A	+	1	0	CRB2	125173202	0.000000	0.05858	0.038000	0.18304	0.046000	0.14306	-0.010000	0.12743	-0.361000	0.08125	-1.079000	0.02226	GCC		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		4	138	0	0	0	1	0	4	138					A	126133381	G	A	126133381	3	1	57	1	0	0	0	0	1	0	0	0	3849	1087	38	1	1990	1	CRB2	9	126133381	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		126133381	15080050	12	1093										
ANGPTL2	23452	broad.mit.edu	37	chr9	129870241	129870241	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggtgagagtgggcataGtgggcagagggggtggcagc	23	5	0	2			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr9:129870241G>C	ENST00000373425.3	-	2	1387	c.770C>G	c.(769-771)aCt>aGt	p.T257S	RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'UTR|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	257					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AGTGGGCATAGTGGGCAGAGG	0.577																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(769-771)aCt>aGt		angiopoietin-like 2							109	106	107					9																	129870241		2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870241G>C	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.770C>G	9.37:g.129870241G>C	ENSP00000362524:p.Thr257Ser					RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'UTR|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373434.1_Intron	p.T257S	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	1387	-			257					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.770C>G	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939389	0.34189	.	.	ENSG00000136859	ENST00000373425	T	0.46451	0.87	5.32	5.32	0.75619	.	0.467757	0.23120	N	0.051710	T	0.36717	0.0977	L	0.43152	1.355	0.80722	D	1	B	0.28900	0.227	B	0.30316	0.114	T	0.19095	-1.0316	10	0.07030	T	0.85	.	19.3588	0.94425	0.0:0.0:1.0:0.0	.	257	Q9UKU9	ANGL2_HUMAN	S	257	ENSP00000362524:T257S	ENSP00000362524:T257S	T	-	2	0	ANGPTL2	128910062	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.660000	0.98599	2.640000	0.89533	0.655000	0.94253	ACT		0.577	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		26	52	0	0	0	1	0	26	52					C	129870241	G	C	129870241	3	2	57	1	0	0	0	0	1	0	0	0	614	1029	36	5	727	5	ANGPTL2	9	129870241	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	3736860	129870241	11343190	13	1094										
RET	5979	broad.mit.edu	37	chr10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcggattccagttaaatggaTggcaattgaatccctttttg	9	7	0	1	rs74799832		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	247	Substitution - Missense(247)	p.M918T(247)	thyroid(231)|adrenal_gland(16)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM941246	RET	M	rs74799832	c.(2752-2754)aTg>aCg		ret proto-oncogene	Sunitinib(DB01268)						262	244	250					10																	43617416		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617416T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2753T>C	10.37:g.43617416T>C	ENSP00000347942:p.Met918Thr					RET_ENST00000340058.5_Missense_Mutation_p.M918T	p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	2985	+		Ovarian(717;0.0423)	918		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2753T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427864	0.83667	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90504	-2.68;-2.68	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.52126	1.63	0.80722	A	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94557	0.7759	9	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	664;918;918	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	918	ENSP00000347942:M918T;ENSP00000344798:M918T	ENSP00000344798:M918T	M	+	2	0	RET	42937422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.198000	0.70561	0.533000	0.62120	ATG		0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		53	131	0	0	0	1	0	53	131					C	43617416	T	C	43617416	3	2	57	1	0	0	0	0	1	0	0	0	13235	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08		43617416	91917331	14	1095										
IMMP1L	196294	broad.mit.edu	37	chr11	31477878	31477878	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccttccaaaccaattactcTtttacaaatatttgattttg	2	9	1	1			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr11:31477878T>G	ENST00000278200.1	-	5	445	c.250A>C	c.(250-252)Aga>Cga	p.R84R	IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000532287.1_Silent_p.R84R	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	84					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					CCAATTACTCTTTTACAAATA	0.318																																						ENST00000278200.1																			0				breast(1)|cervix(1)|large_intestine(1)|lung(4)	7						c.(250-252)Aga>Cga		IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)							64	59	61					11																	31477878		2202	4296	6498	SO:0001819	synonymous_variant	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31477878T>G		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.250A>C	11.37:g.31477878T>G						IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000526776.1_Intron|IMMP1L_ENST00000528161.1_5'UTR|IMMP1L_ENST00000532287.1_Silent_p.R84R	p.R84R	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN			5	445	-	Lung SC(675;0.225)		84					D3DQZ7|Q96SH9	Silent	SNP	ENST00000278200.1	37	c.250A>C	CCDS7874.1																																																																																				0.318	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		7	50	0	0	0	1	0	7	50					G	31477878	T	G	31477878	2	3	57	1	0	0	0	0	0	0	0	1	7716	1617	56	5		5	IMMP1L	11	31477878	Silent	SNP	T	TCGA-QT-A5XK-01A-11D-A35D-08		31477878	103528638	15	1096										
FNDC3A	22862	broad.mit.edu	37	chr13	49765404	49765404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagtgtggaaatgtctcctAtagaaaaagatgaacctaga	9	6	1	4	rs373752125		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr13:49765404A>G	ENST00000492622.2	+	19	2415	c.2110A>G	c.(2110-2112)Ata>Gta	p.I704V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.I704V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.I648V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	704	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AATGTCTCCTATAGAAAAAGA	0.413																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2110-2112)Ata>Gta		fibronectin type III domain containing 3A		A	VAL/ILE,VAL/ILE	0,4406		0,0,2203	101	101	101		1942,2110	-2.8	1	13		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FNDC3A	NM_014923.3,NM_001079673.1	29,29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	648/1143,704/1199	49765404	1,13005	2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49765404A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2110A>G	13.37:g.49765404A>G	ENSP00000417257:p.Ile704Val					FNDC3A_ENST00000398316.3_Missense_Mutation_p.I648V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I704V	p.I704V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	19	2415	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	704			Fibronectin type-III 5.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2110A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	8.158	0.788829	0.16258	0.0	1.16E-4	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.55234	0.53;0.53;0.53	5.2	-2.83	0.05769	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.173980	0.06240	N	0.690202	T	0.20373	0.0490	N	0.02315	-0.6	0.21579	N	0.99963	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09037	-1.0693	10	0.29301	T	0.29	-4.0E-4	0.4799	0.00546	0.3414:0.1995:0.2568:0.2023	.	648;704	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	704;640;704;648	ENSP00000417257:I704V;ENSP00000441831:I704V;ENSP00000381362:I648V	ENSP00000338579:I640V	I	+	1	0	FNDC3A	48663405	0.000000	0.05858	0.988000	0.46212	0.872000	0.50106	-0.689000	0.05144	-0.311000	0.08754	-0.366000	0.07423	ATA		0.413	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		12	81	0	0	0	1	0	12	81					G	49765404	A	G	49765404	3	3	57	1	0	0	0	0	1	0	0	0	5969	449	16	4	2191	4	FNDC3A	13	49765404	Missense_Mutation	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08		49765404	65404474	16	1097										
FOS	2353	broad.mit.edu	37	chr14	75746642	75746642	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cccacggtcactgccatctcGaccagtccggacctgcagtg	10	17	2	0			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr14:75746642G>A	ENST00000303562.4	+	2	413	c.204G>A	c.(202-204)tcG>tcA	p.S68S	FOS_ENST00000554617.1_Silent_p.S68S|FOS_ENST00000555686.1_5'UTR|FOS_ENST00000535987.1_Silent_p.S68S|FOS_ENST00000555242.1_Silent_p.S68S|FOS_ENST00000555347.1_5'Flank	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	68					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CTGCCATCTCGACCAGTCCGG	0.642																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(202-204)tcG>tcA		FBJ murine osteosarcoma viral oncogene homolog							87	85	86					14																	75746642		2203	4300	6503	SO:0001819	synonymous_variant	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75746642G>A	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"basic leucine zipper proteins"	3796	protein-coding gene	gene with protein product		164810	"v-fos FBJ murine osteosarcoma viral oncogene homolog"			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.204G>A	14.37:g.75746642G>A						FOS_ENST00000555686.1_5'UTR|FOS_ENST00000535987.1_Silent_p.S68S|FOS_ENST00000555242.1_Silent_p.S68S|FOS_ENST00000554617.1_Silent_p.S68S	p.S68S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	2	413	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	68					A8K4E2|B4DQ65|P18849	Silent	SNP	ENST00000303562.4	37	c.204G>A	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	3.550	-0.091893	0.07053	.	.	ENSG00000170345	ENST00000554212	.	.	.	5.95	-11.9	0.00025	.	.	.	.	.	T	0.47414	0.1444	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63743	-0.6568	4	.	.	.	-1.3749	10.8872	0.46974	0.2105:0.5964:0.0795:0.1136	.	.	.	.	N	59	.	.	D	+	1	0	FOS	74816395	0.002000	0.14202	0.231000	0.23993	0.648000	0.38561	-1.555000	0.02170	-2.779000	0.00361	-2.169000	0.00324	GAC		0.642	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		4	80	0	0	0	1	0	4	80					A	75746642	G	A	75746642	2	1	57	1	0	0	0	0	0	0	0	1	5985	1045	37	2		2	FOS	14	75746642	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		75746642	31602898	17	1098										
AHNAK2	113146	broad.mit.edu	37	chr14	105413382	105413382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggctgtcatgcccttgtcGgccagggacaggtccccctc	12	15	1	0	rs374049138		TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr14:105413382G>A	ENST00000333244.5	-	7	8525	c.8406C>T	c.(8404-8406)gcC>gcT	p.A2802A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2802						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTGTCGGCCAGGGACA	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8404-8406)gcC>gcT		AHNAK nucleoprotein 2		G		0,3888		0,0,1944	199	214	209		8406	-6.5	0	14		209	1,8267		0,1,4133	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6077	AA,AG,GG		0.0121,0.0,0.0082		2802/5796	105413382	1,12155	1944	4134	6078	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105413382G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8406C>T	14.37:g.105413382G>A						AHNAK2_ENST00000557457.1_Intron	p.A2802A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8525	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2802					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.8406C>T	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	477	0	0	0	1	0	6	477					A	105413382	G	A	105413382	2	1	57	1	0	0	0	0	0	0	0	1	415	1103	39	2		2	AHNAK2	14	105413382	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	29666740	105413382	1936158	18	1099										
RYR3	6263	broad.mit.edu	37	chr15	34115225	34115225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattacctaaaggagaaaaAggatgctggattctttcaaa	9	5	2	2			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr15:34115225A>G	ENST00000389232.4	+	81	11094	c.11024A>G	c.(11023-11025)aAg>aGg	p.K3675R	RYR3_ENST00000415757.3_Missense_Mutation_p.K3670R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3675					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGAGAAAAAGGATGCTGGA	0.418																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11023-11025)aAg>aGg		ryanodine receptor 3							114	109	110					15																	34115225		1842	4107	5949	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34115225A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11024A>G	15.37:g.34115225A>G	ENSP00000373884:p.Lys3675Arg					RYR3_ENST00000415757.3_Missense_Mutation_p.K3670R	p.K3675R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	81	11094	+		all_lung(180;7.18e-09)	3675					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11024A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461181	0.43736	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.91351	-2.83	5.35	5.35	0.76521	.	0.056600	0.64402	D	0.000002	T	0.80314	0.4600	N	0.12182	0.205	0.30598	N	0.760798	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.73142	-0.4076	10	0.26408	T	0.33	.	9.91	0.41399	0.9246:0.0:0.0754:0.0	.	3670;3675	Q15413-2;Q15413	.;RYR3_HUMAN	R	3675;3674;3670	ENSP00000373884:K3675R	ENSP00000354735:K3670R	K	+	2	0	RYR3	31902517	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.735000	0.68587	2.243000	0.73865	0.533000	0.62120	AAG		0.418	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	52	0	0	0	1	0	3	52					G	34115225	A	G	34115225	3	3	57	1	0	0	0	0	1	0	0	0	13770	72	3	4	11346	4	RYR3	15	34115225	Missense_Mutation	SNP	A	TCGA-QT-A5XK-01A-11D-A35D-08		34115225	68416167	19	1100										
CD97	976	broad.mit.edu	37	chr19	14507920	14507920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcacctccggacaaaacccGtgccacagctccacccactg	7	19	0	0	rs148941728	byFrequency	TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr19:14507920G>A	ENST00000242786.5	+	6	590	c.510G>A	c.(508-510)ccG>ccA	p.P170P	CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	170	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GACAAAACCCGTGCCACAGCT	0.627													G|||	2	0.000399361	0	0	5008	,	,		16814	0		0.002	False		,,,				2504	0					ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(508-510)ccG>ccA		CD97 molecule		G	,,	1,4405	2.1+/-5.4	0,1,2202	108	97	101		,,510	-7.1	0	19	dbSNP_134	101	0,8600		0,0,4300	no	intron,intron,coding-synonymous	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,,170/836	14507920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14507920G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.510G>A	19.37:g.14507920G>A						CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron	p.P170P	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			6	590	+			170			EGF-like 4; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.510G>A	CCDS32929.1																																																																																				0.627	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		4	108	0	0	0	1	0	4	108					A	14507920	G	A	14507920	2	1	57	1	0	0	0	0	0	0	0	1	3049	1132	40	1		1	CD97	19	14507920	Silent	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		14507920	44621063	20	1101										
GPCPD1	56261	broad.mit.edu	37	chr20	5559094	5559094	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgctgtactctgtccaacGatcaggctgcaagccataac	8	12	2	0			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr20:5559094G>T	ENST00000379019.4	-	8	849	c.637C>A	c.(637-639)Cgt>Agt	p.R213S	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	213					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TCTGTCCAACGATCAGGCTGC	0.443																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(637-639)Cgt>Agt		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							123	108	114					20																	5559094		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5559094G>T		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.637C>A	20.37:g.5559094G>T	ENSP00000368305:p.Arg213Ser					GPCPD1_ENST00000481038.1_5'UTR	p.R213S	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			8	849	-			213					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.637C>A	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827235	0.50739	.	.	ENSG00000125772	ENST00000379019	T	0.41400	1.0	5.35	5.35	0.76521	.	0.064339	0.64402	D	0.000003	T	0.43166	0.1235	L	0.29908	0.895	0.58432	D	0.999999	D	0.58268	0.982	P	0.49752	0.621	T	0.14896	-1.0456	10	0.32370	T	0.25	-5.4964	19.4355	0.94792	0.0:0.0:1.0:0.0	.	213	Q9NPB8	GPCP1_HUMAN	S	213	ENSP00000368305:R213S	ENSP00000368305:R213S	R	-	1	0	GPCPD1	5507094	1.000000	0.71417	0.830000	0.32933	0.914000	0.54420	6.636000	0.74299	2.668000	0.90789	0.655000	0.94253	CGT		0.443	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		4	75	1	0	0.000602214	1	0.000602214	4	75					T	5559094	G	T	5559094	3	4	57	1	0	0	0	0	1	0	0	0	6603	1058	37	5	1433	5	GPCPD1	20	5559094	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08		5559094	57466426	21	1102										
WFDC9	259240	broad.mit.edu	37	chr20	44236772	44236772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggtttagcattgatttaaGgggctctctagaagagaaaa	13	4	1	3			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr20:44236772G>A	ENST00000326000.1	-	5	464	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	83						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				ATTGATTTAAGGGGCTCTCTA	0.423																																						ENST00000326000.1																			0				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6						c.(247-249)Ctt>Ttt		WAP four-disulfide core domain 9							178	180	180					20																	44236772		2203	4300	6503	SO:0001583	missense	259240					extracellular region		g.chr20:44236772G>A	AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"WAP four-disulfide core domain containing"	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.247C>T	20.37:g.44236772G>A	ENSP00000320532:p.Leu83Phe						p.L83F	NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN			5	464	-		Myeloproliferative disorder(115;0.0122)	83					Q3MIX6|Q5TGZ8	Missense_Mutation	SNP	ENST00000326000.1	37	c.247C>T	CCDS13362.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.670890	0.00758	.	.	ENSG00000180205	ENST00000326000	T	0.33865	1.39	3.62	1.08	0.20341	.	0.599477	0.13978	N	0.349644	T	0.13798	0.0334	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	9	0.09084	T	0.74	-2.5934	2.9681	0.05913	0.6667:0.0:0.1208:0.2125	.	83	Q8NEX5	WFDC9_HUMAN	F	83	ENSP00000320532:L83F	ENSP00000320532:L83F	L	-	1	0	WFDC9	43670186	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.388000	0.20735	0.238000	0.21222	-0.441000	0.05720	CTT		0.423	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106945.1			4	185	0	0	0	1	0	4	185					A	44236772	G	A	44236772	3	1	57	1	0	0	0	0	1	0	0	0	17354	1000	35	3	26	3	WFDC9	20	44236772	Missense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	38677678	44236772	18788748	22	1103										
PSMA7	5688	broad.mit.edu	37	chr20	60715937	60715937	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgcactgttctttcatcctGcagtttggccactgacttct	7	14	3	1			TCGA-QT-A5XK-01A-11D-A35D-08	TCGA-QT-A5XK-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0127fef-9769-4e69-8d9a-f63deb34af70	26681123-af85-48c8-a76f-8d200d1ea3cc	g.chr20:60715937G>A	ENST00000370873.4	-	2	286	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	PSMA7_ENST00000370861.1_5'UTR|PSMA7_ENST00000370858.3_Nonsense_Mutation_p.Q54*|SS18L1_ENST00000331758.3_5'Flank|PSMA7_ENST00000484488.1_5'UTR|SS18L1_ENST00000421564.1_5'Flank	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	54					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTTTCATCCTGCAGTTTGGCC	0.468																																						ENST00000370873.4																			0				large_intestine(1)|lung(2)	3						c.(160-162)Cag>Tag		proteasome (prosome, macropain) subunit, alpha type, 7							280	192	222					20																	60715937		2203	4300	6503	SO:0001587	stop_gained	5688				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60715937G>A	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"Proteasome (prosome, macropain) subunits"	9536	protein-coding gene	gene with protein product	"proteasome subunit XAPC7", "proteasome subunit RC6-1"	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.160C>T	20.37:g.60715937G>A	ENSP00000359910:p.Gln54*					PSMA7_ENST00000370861.1_5'UTR|PSMA7_ENST00000370858.3_Nonsense_Mutation_p.Q54*|PSMA7_ENST00000484488.1_5'UTR	p.Q54*	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		2	286	-	Breast(26;3.97e-09)		54					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Nonsense_Mutation	SNP	ENST00000370873.4	37	c.160C>T	CCDS13489.1	.	.	.	.	.	.	.	.	.	.	G	38	6.669228	0.97747	.	.	ENSG00000101182	ENST00000370873;ENST00000370858	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3625	0.94446	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000359895:Q54X	Q	-	1	0	PSMA7	60149332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.381000	0.97205	2.568000	0.86640	0.655000	0.94253	CAG		0.468	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792		60	94	0	0	0	1	0	60	94					A	60715937	G	A	60715937	4	1	57	1	0	0	0	0	0	1	0	0	12672	1328	46	3	610	3	PSMA7	20	60715937	Nonsense_Mutation	SNP	G	TCGA-QT-A5XK-01A-11D-A35D-08	16479165	60715937	2309583	23	1104										
RPRD2	23248	broad.mit.edu	37	chr1	150390085	150390085	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	tctctagctgcatatccccaCcgtttgaatctcttttacct	4	14	2	1			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:150390085C>A	ENST00000369068.4	+	2	223	c.219C>A	c.(217-219)caC>caA	p.H73Q	RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	73	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CATATCCCCACCGTTTGAATC	0.353																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(217-219)caC>caA		regulation of nuclear pre-mRNA domain containing 2							231	217	221					1																	150390085		1863	4101	5964	SO:0001583	missense	23248						protein binding	g.chr1:150390085C>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.219C>A	1.37:g.150390085C>A	ENSP00000358064:p.His73Gln					RPRD2_ENST00000369068.4_Missense_Mutation_p.H73Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H73Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.H73Q	p.H73Q			Q5VT52	RPRD2_HUMAN			2	284	+			73			CID.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.219C>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177558	0.38413	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.52	2.03	0.26663	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.092518	0.85682	D	0.000000	T	0.25606	0.0623	N	0.17631	0.505	0.54753	D	0.999981	P;B;D	0.76494	0.501;0.361;0.999	B;B;D	0.80764	0.154;0.154;0.994	T	0.04467	-1.0949	10	0.15952	T	0.53	-1.3603	8.1931	0.31381	0.0:0.4782:0.0:0.5218	.	73;73;73	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Q	73	ENSP00000383785:H73Q;ENSP00000445482:H73Q;ENSP00000358063:H73Q;ENSP00000358064:H73Q	ENSP00000358063:H73Q	H	+	3	2	RPRD2	148656709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.854000	0.27791	0.189000	0.20188	0.650000	0.86243	CAC		0.353	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		44	152	1	0	4.10826e-27	1	4.45062e-27	44	152					A	150390085	C	A	150390085	3	1	58	1	0	0	0	0	1	0	0	0	13617	506	18	5	225	5	RPRD2	1	150390085	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		150390085	98860536	1	1105										
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	916	0	0	0	1	0	7	916					G	152128186	A	G	152128186	2	3	58	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-QT-A5XL-01A-11D-A35D-08	1738101	152128186	97122435	2	1106										
EPAS1	2034	broad.mit.edu	37	chr2	46607402	46607402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	tggacttggagacactggcaCcctatatccccatggacggg	12	12	0	1			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr2:46607402C>T	ENST00000263734.3	+	12	2101	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACACTGGCACCCTATATCCC	0.587																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)Ccc>Tcc		endothelial PAS domain protein 1							85	93	91					2																	46607402		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607402C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1591C>T	2.37:g.46607402C>T	ENSP00000263734:p.Pro531Ser						p.P531S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2101	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1591C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989153	0.93106	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	S	531	ENSP00000263734:P531S	ENSP00000263734:P531S	P	+	1	0	EPAS1	46460906	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		108	83	0	0	0	1	0	108	83					T	46607402	C	T	46607402	3	4	58	1	0	0	0	0	1	0	0	0	5150	507	18	3	1637	3	EPAS1	2	46607402	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		46607402	196591971	3	1107										
NBEAL2	23218	broad.mit.edu	37	chr3	47043265	47043265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	gctgatctccgtgagatggcGcagattggcctacggcttgt	14	10	1	3	rs142878502	byFrequency	TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:47043265G>A	ENST00000450053.3	+	30	4910	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A	NBEAL2_ENST00000292309.5_Silent_p.A1393A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1577					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGAGATGGCGCAGATTGGCC	0.602													G|||	5	0.000998403	0.0038	0	5008	,	,		21125	0		0	False		,,,				2504	0					ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4729-4731)gcG>gcA		neurobeachin-like 2							91	95	94					3																	47043265		2122	4257	6379	SO:0001819	synonymous_variant	23218						binding	g.chr3:47043265G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4731G>A	3.37:g.47043265G>A						NBEAL2_ENST00000292309.5_Silent_p.A1393A|NBEAL2_ENST00000383740.2_5'UTR	p.A1577A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	30	4910	+		Acute lymphoblastic leukemia(5;0.0534)	1577					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4731G>A	CCDS46817.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.05	1.244193	0.22796	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.27098	0.0664	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42832	-0.9428	4	.	.	.	.	3.8024	0.08764	0.124:0.2892:0.3966:0.1903	.	.	.	.	H	865	.	.	R	+	2	0	NBEAL2	47018269	0.001000	0.12720	0.867000	0.34043	0.976000	0.68499	-1.374000	0.02566	-1.592000	0.01619	-0.414000	0.06135	CGC		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		11	77	0	0	0	1	0	11	77					A	47043265	G	A	47043265	2	1	58	1	0	0	0	0	0	0	0	1	10189	1074	38	1		1	NBEAL2	3	47043265	Silent	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		47043265	150979165	4	1108										
ATP13A3	79572	broad.mit.edu	37	chr3	194154518	194154518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	aacctgtgaccatgacggtgCgaatgttggctttatgcaaa	11	8	0	2			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr3:194154518C>T	ENST00000439040.1	-	21	3019	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	743						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATGACGGTGCGAATGTTGGC	0.348																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2227-2229)cGc>cAc		ATPase type 13A3							172	157	161					3																	194154518		1858	4098	5956	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194154518C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2228G>A	3.37:g.194154518C>T	ENSP00000416508:p.Arg743His					ATP13A3_ENST00000256031.4_Missense_Mutation_p.R743H	p.R743H			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	21	3019	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	743					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2228G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388233	0.95988	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.71222	-0.55;-0.55	5.86	5.86	0.93980	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84581	0.0661	10	0.66056	D	0.02	-1.7781	20.1802	0.98196	0.0:1.0:0.0:0.0	.	743	Q9H7F0	AT133_HUMAN	H	743;743;481	ENSP00000416508:R743H;ENSP00000256031:R743H	ENSP00000256031:R743H	R	-	2	0	ATP13A3	195635807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	CGC		0.348	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		5	119	0	0	0	1	0	5	119					T	194154518	C	T	194154518	3	4	58	1	0	0	0	0	1	0	0	0	1125	768	27	1	1504	1	ATP13A3	3	194154518	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08	147111253	194154518	3867912	5	1109										
PCDHA7	56141	broad.mit.edu	37	chr5	140215201	140215201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	tattcattggtgctggacagCgctctggaccgcgagagtgt	14	9	2	1	rs145763112		TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr5:140215201C>T	ENST00000525929.1	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S411S|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACAGCGCTCTGGACC	0.597																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1231-1233)agC>agT									125	124	125					5																	140215201		2203	4300	6503	SO:0001819	synonymous_variant	56141							g.chr5:140215201C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1233C>T	5.37:g.140215201C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S411S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.S411S	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1233	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1233C>T	CCDS54918.1																																																																																				0.597	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		5	133	0	0	0	1	0	5	133					T	140215201	C	T	140215201	2	4	58	1	0	0	0	0	0	0	0	1	11529	767	27	1		1	PCDHA7	5	140215201	Silent	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		140215201	40700059	6	1110										
RUNX1T1	862	broad.mit.edu	37	chr8	93003905	93003905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	ccctgaggtccctgtggctgGggtgtcgataggagtccctg	16	11	0	1			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr8:93003905G>A	ENST00000523629.1	-	7	1407	c.953C>T	c.(952-954)cCc>cTc	p.P318L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	318					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCTGTGGCTGGGGTGTCGATA	0.542																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(952-954)cCc>cTc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							187	168	174					8																	93003905		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003905G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.953C>T	8.37:g.93003905G>A	ENSP00000428543:p.Pro318Leu					RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P318L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P281L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P329L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P291L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P281L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P291L	p.P318L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1407	-			318					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.953C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338425	0.41398	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.29655	1.57;1.56;1.57;1.56;1.56;1.56;1.57;1.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	L	0.46157	1.445	0.80722	D	1	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.12156	0.001;0.001;0.007	T	0.23797	-1.0178	10	0.05525	T	0.97	-19.9831	20.4745	0.99168	0.0:0.0:1.0:0.0	.	329;318;291	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	L	318;291;318;281;281;281;329;291	ENSP00000428543:P318L;ENSP00000379520:P291L;ENSP00000265814:P318L;ENSP00000353504:P281L;ENSP00000390137:P281L;ENSP00000428742:P281L;ENSP00000402257:P329L;ENSP00000430728:P291L	ENSP00000265814:P318L	P	-	2	0	RUNX1T1	93073081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.619000	0.83057	2.941000	0.99782	0.655000	0.94253	CCC		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		42	107	0	0	0	1	0	42	107					A	93003905	G	A	93003905	3	1	58	1	0	0	0	0	1	0	0	0	13747	1232	43	3	885	3	RUNX1T1	8	93003905	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		93003905	53360117	7	1111										
C13orf36	400120	broad.mit.edu	37	chr13	37269242	37269242	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	gaacctgacacttcctcaggAttttcgggaagtgtggagaa	12	8	1	2			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr13:37269242A>T	ENST00000315190.3	+	2	473	c.27A>T	c.(25-27)ggA>ggT	p.G9G		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	9						integral component of membrane (GO:0016021)											CTTCCTCAGGATTTTCGGGAA	0.478																																						ENST00000315190.3																			0											c.(25-27)ggA>ggT		serine-rich and transmembrane domain containing 1							118	113	114					13																	37269242		2203	4300	6503	SO:0001819	synonymous_variant	400120					integral to membrane		g.chr13:37269242A>T		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 36"	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.27A>T	13.37:g.37269242A>T							p.G9G	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	473	+			9					Q8N469	Silent	SNP	ENST00000315190.3	37	c.27A>T	CCDS9358.1																																																																																				0.478	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		26	56	0	0	0	1	0	26	56					T	37269242	A	T	37269242	2	4	58	1	0	0	0	0	0	0	0	1	1730	320	12	5		5	C13orf36	13	37269242	Silent	SNP	A	TCGA-QT-A5XL-01A-11D-A35D-08		37269242	77900636	8	1112										
FLJ10357	55701	broad.mit.edu	37	chr14	21549078	21549078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	cctggctctggaggagaatgCcacctcccagaaggtgctgg	14	12	1	2			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr14:21549078C>T	ENST00000298694.4	+	13	2670	c.2543C>T	c.(2542-2544)gCc>gTc	p.A848V	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A848V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	848						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAGGAGAATGCCACCTCCCAG	0.642																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2542-2544)gCc>gTc		Rho guanine nucleotide exchange factor (GEF) 40							77	77	77					14																	21549078		2203	4300	6503	SO:0001583	missense	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21549078C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2543C>T	14.37:g.21549078C>T	ENSP00000298694:p.Ala848Val					ARHGEF40_ENST00000298693.3_Missense_Mutation_p.A848V	p.A848V			Q8TER5	ARH40_HUMAN			13	2670	+			848					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2543C>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	C	2.232	-0.375854	0.05034	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02421	4.36;4.3	5.52	2.68	0.31781	.	1.307500	0.05148	N	0.495565	T	0.01661	0.0053	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.45527	-0.9255	10	0.13108	T	0.6	.	6.5485	0.22420	0.0:0.7095:0.0:0.2905	.	848;848	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	V	848	ENSP00000298694:A848V;ENSP00000298693:A848V	ENSP00000298693:A848V	A	+	2	0	ARHGEF40	20618918	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	0.449000	0.21744	0.666000	0.31087	0.555000	0.69702	GCC		0.642	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	128	0	0	0	1	0	4	128					T	21549078	C	T	21549078	3	4	58	1	0	0	0	0	1	0	0	0	5926	739	26	3	2593	3	FLJ10357	14	21549078	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		21549078	85800462	9	1113										
CHD3	1107	broad.mit.edu	37	chr17	7802767	7802767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	attctatgtggtgacatacaCgggtgacaaggacagccggg	14	8	1	2			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:7802767C>T	ENST00000330494.7	+	15	2600	c.2450C>T	c.(2449-2451)aCg>aTg	p.T817M	CHD3_ENST00000380358.4_Missense_Mutation_p.T876M|CHD3_ENST00000358181.4_Missense_Mutation_p.T817M	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	817	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGACATACACGGGTGACAAG	0.493																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2626-2628)aCg>aTg		chromodomain helicase DNA binding protein 3							144	140	141					17																	7802767		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7802767C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2450C>T	17.37:g.7802767C>T	ENSP00000332628:p.Thr817Met					CHD3_ENST00000358181.4_Missense_Mutation_p.T817M|CHD3_ENST00000330494.7_Missense_Mutation_p.T817M	p.T876M	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			15	2628	+		Prostate(122;0.202)	817			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.2627C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231990	0.58777	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.93133	-3.17;-3.17;-3.17	5.06	5.06	0.68205	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47093	D	0.000241	D	0.95207	0.8446	L	0.41079	1.255	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.95462	0.8544	10	0.72032	D	0.01	-20.0922	19.0357	0.92976	0.0:1.0:0.0:0.0	.	817;817;876	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	M	876;817;817	ENSP00000369716:T876M;ENSP00000350907:T817M;ENSP00000332628:T817M	ENSP00000332628:T817M	T	+	2	0	CHD3	7743492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.216000	0.51176	2.809000	0.96659	0.555000	0.69702	ACG		0.493	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		4	165	0	0	0	1	0	4	165					T	7802767	C	T	7802767	3	4	58	1	0	0	0	0	1	0	0	0	3326	536	19	1	2789	1	CHD3	17	7802767	Missense_Mutation	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08		7802767	73392443	10	1114										
CCT6B	10693	broad.mit.edu	37	chr17	33285700	33285700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	ttgctatcaaggaagctgttGgatgttgaatttgctggaaa	12	4	1	1			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:33285700G>T	ENST00000314144.5	-	3	330	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q|CCT6B_ENST00000436961.3_Intron|ZNF830_ENST00000361952.3_5'Flank	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	72					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GGAAGCTGTTGGATGTTGAAT	0.388																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(214-216)cCa>cAa		chaperonin containing TCP1, subunit 6B (zeta 2)							91	80	84					17																	33285700		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33285700G>T	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.215C>A	17.37:g.33285700G>T	ENSP00000327191:p.Pro72Gln					CCT6B_ENST00000436961.3_Intron|CCT6B_ENST00000421975.3_Missense_Mutation_p.P72Q	p.P72Q	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			3	330	-		Ovarian(249;0.17)	72					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.215C>A	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222739	0.79464	.	.	ENSG00000132141	ENST00000421975;ENST00000314144	T;T	0.33865	1.39;1.39	4.72	4.72	0.59763	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.73297	-0.4027	10	0.87932	D	0	-9.059	15.5625	0.76258	0.0:0.0:1.0:0.0	.	72;72	B4DX20;Q92526	.;TCPW_HUMAN	Q	72	ENSP00000398044:P72Q;ENSP00000327191:P72Q	ENSP00000327191:P72Q	P	-	2	0	CCT6B	30309813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.965000	0.93393	2.591000	0.87537	0.650000	0.86243	CCA		0.388	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		3	59	1	0	0.014758	1	0.0153483	3	59					T	33285700	G	T	33285700	3	4	58	1	0	0	0	0	1	0	0	0	2958	1348	47	5	1425	5	CCT6B	17	33285700	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08	25482933	33285700	47909510	11	1115										
AMAC1	146861	broad.mit.edu	37	chr17	33520469	33520469	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	gccacaaccacctcggaatgTaggacagcgcacaccagggc	11	15	0	0			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr17:33520469T>C	ENST00000297307.5	-	1	943	c.858A>G	c.(856-858)ctA>ctG	p.L286L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	286	EamA 2.					integral component of membrane (GO:0016021)		p.L286L(1)									CCTCGGAATGTAGGACAGCGC	0.592																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.L286L(1)	lung(1)								c.(856-858)ctA>ctG		solute carrier family 35, member G3							207	184	192					17																	33520469		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520469T>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.858A>G	17.37:g.33520469T>C							p.L286L	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	943	-			286			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.858A>G	CCDS11293.1																																																																																				0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	159	0	0	0	1	0	5	159					C	33520469	T	C	33520469	2	2	58	1	0	0	0	0	0	0	0	1	559	1625	57	4		4	AMAC1	17	33520469	Silent	SNP	T	TCGA-QT-A5XL-01A-11D-A35D-08	234769	33520469	47674741	12	1116										
ATP4A	495	broad.mit.edu	37	chr19	36054315	36054315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	ctccttcttcatgttctccaGcttctccttcctcttgccac	3	18	5	0			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chr19:36054315G>T	ENST00000262623.3	-	2	155	c.127C>A	c.(127-129)Ctg>Atg	p.L43M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	43					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGTTCTCCAGCTTCTCCTTC	0.642																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(127-129)Ctg>Atg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						198	196	197					19																	36054315		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054315G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.127C>A	19.37:g.36054315G>T	ENSP00000262623:p.Leu43Met						p.L43M	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	155	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		43					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.127C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138509	0.37728	.	.	ENSG00000105675	ENST00000262623	D	0.93604	-3.25	4.48	3.44	0.39384	ATPase, P-type, gastric H+/K+-transporter, N-terminal (1);	0.572276	0.13680	N	0.370267	D	0.84374	0.5458	N	0.08118	0	0.33585	D	0.600397	B	0.17465	0.022	B	0.17979	0.02	T	0.81243	-0.1021	10	0.26408	T	0.33	.	10.5621	0.45152	0.095:0.0:0.905:0.0	.	43	P20648	ATP4A_HUMAN	M	43	ENSP00000262623:L43M	ENSP00000262623:L43M	L	-	1	2	ATP4A	40746155	0.992000	0.36948	1.000000	0.80357	0.985000	0.73830	0.626000	0.24492	1.128000	0.42052	-0.139000	0.14373	CTG		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	162	1	0	0.150653	1	0.150653	4	162					T	36054315	G	T	36054315	3	4	58	1	0	0	0	0	1	0	0	0	1145	962	34	5	3064	5	ATP4A	19	36054315	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		36054315	23074668	13	1117										
FAM46D	169966	broad.mit.edu	37	chrX	79698960	79698960	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	ccttgcatggagttgtgaatGaaagcactgtttgcctcatg	11	8	1	2			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chrX:79698960G>A	ENST00000308293.5	+	3	1161	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FAM46D_ENST00000538312.1_Missense_Mutation_p.E308K	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	308										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGTTGTGAATGAAAGCACTGT	0.388																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(922-924)Gaa>Aaa		family with sequence similarity 46, member D							140	118	126					X																	79698960		2203	4298	6501	SO:0001583	missense	169966							g.chrX:79698960G>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.922G>A	X.37:g.79698960G>A	ENSP00000308575:p.Glu308Lys					FAM46D_ENST00000308293.5_Missense_Mutation_p.E308K	p.E308K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1256	+			308					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.922G>A	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326531	0.24080	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.25749	1.78;1.78	4.35	3.48	0.39840	Domain of unknown function DUF1693 (1);	0.202421	0.42294	D	0.000740	T	0.34019	0.0883	M	0.85462	2.755	0.50171	D	0.999854	B	0.21606	0.058	B	0.23018	0.043	T	0.22452	-1.0216	10	0.54805	T	0.06	-3.9968	11.5429	0.50677	0.0:0.2082:0.7918:0.0	.	308	Q8NEK8	FA46D_HUMAN	K	308	ENSP00000443410:E308K;ENSP00000308575:E308K	ENSP00000308575:E308K	E	+	1	0	FAM46D	79585616	1.000000	0.71417	0.999000	0.59377	0.047000	0.14425	3.831000	0.55776	0.837000	0.34925	0.583000	0.79449	GAA		0.388	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		4	70	0	0	0	1	0	4	70					A	79698960	G	A	79698960	3	1	58	1	0	0	0	0	1	0	0	0	5568	1291	45	3	924	3	FAM46D	23	79698960	Missense_Mutation	SNP	G	TCGA-QT-A5XL-01A-11D-A35D-08		79698960	75571600	14	1118										
DCAF12L1	139170	broad.mit.edu	37	chrX	125685938	125685938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.985380116959064	NA	0.985380116959064	1	1	0	tccgggtccatccgccacagCgccacagtgccgtcgcggga	13	17	0	0			TCGA-QT-A5XL-01A-11D-A35D-08	TCGA-QT-A5XL-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e54c01e-51df-4935-ac97-1092168b1e6c	dd4db503-755c-4a60-bae5-e60add71d71c	g.chrX:125685938C>T	ENST00000371126.1	-	1	896	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	218										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCGCCACAGCGCCACAGTGC	0.652																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(652-654)gcG>gcA		DDB1 and CUL4 associated factor 12-like 1							32	34	33					X																	125685938		2201	4296	6497	SO:0001819	synonymous_variant	139170							g.chrX:125685938C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.654G>A	X.37:g.125685938C>T							p.A218A	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	896	-			218					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.654G>A	CCDS14610.1																																																																																				0.652	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		3	35	0	0	0	1	0	3	35					T	125685938	C	T	125685938	2	4	58	1	0	0	0	0	0	0	0	1	4264	755	27	1		1	DCAF12L1	23	125685938	Silent	SNP	C	TCGA-QT-A5XL-01A-11D-A35D-08	45986978	125685938	29584622	15	1119										
ESPN	83715	broad.mit.edu	37	chr1	6512081	6512081	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	gatgagcagggccggcccatCcccgagtggaagcgccaggt							TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:6512081delC	ENST00000377828.1	+	10	2418	c.2250delC	c.(2248-2250)atcfs	p.I750fs	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000461727.1_Frame_Shift_Del_p.I184fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	750					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGGCCCATCCCCGAGTGGA	0.672																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(2248-2250)atfs		espin							17	20	19					1																	6512081		2200	4298	6498	SO:0001589	frameshift_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6512081delC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2250delC	1.37:g.6512081delC	ENSP00000367059:p.Ile750fs					ESPN_ENST00000416731.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000461727.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000475228.1_3'UTR	p.I750fs	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	10	2418	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	750					Q6XYB2|Q9H0A2|Q9Y329	Frame_Shift_Del	DEL	ENST00000377828.1	37	c.2250delC	CCDS70.1																																																																																				0.672	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		2	4						2	4	---	---	---	---	-	6512081	C	-	6512081	7	5	59	1	0	1	0	1	0	0	0	0	5254	845	30	0	2288	0	ESPN	1	6512081	Frame_Shift_Del	DEL	C	TCGA-QT-A5XM-01A-11D-A35D-08		6512081	242738540	1	1120										
ECHDC2	55268	broad.mit.edu	37	chr1	53387326	53387326	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	NA	0	1	1	0	ggggcctccaggggcgcaggAggcacagaacgcgcagcatc							TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:53387326delA	ENST00000371522.4	-	1	113	c.20delT	c.(19-21)ctcfs	p.L8fs	ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.L8fs|ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000536120.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	8					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGGGCGCAGGAGGCACAGAAC	0.736																																						ENST00000371522.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(19-21)ccfs		enoyl CoA hydratase domain containing 2							4	6	5					1																	53387326		2066	4157	6223	SO:0001589	frameshift_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53387326delA	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.20delT	1.37:g.53387326delA	ENSP00000360577:p.Leu8fs					ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.L8fs	p.L8fs	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN			1	113	-			8					D3DQ36|Q9NV38	Frame_Shift_Del	DEL	ENST00000371522.4	37	c.20delT	CCDS55600.1																																																																																				0.736	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		2	4						2	4	---	---	---	---	-	53387326	A	-	53387326	7	5	59	1	0	1	0	1	0	0	0	0	4894	304	11	0	801	0	ECHDC2	1	53387326	Frame_Shift_Del	DEL	A	TCGA-QT-A5XM-01A-11D-A35D-08	46875245	53387326	195863295	2	1121										
GIPC2	54810	broad.mit.edu	37	chr1	78546456	78546456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	catatttgcccatgtgaaagGaatcgaaaaagaagtgaatg	10	5	0	3			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr1:78546456G>A	ENST00000370759.3	+	2	531	c.338G>A	c.(337-339)gGa>gAa	p.G113E	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	113						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CATGTGAAAGGAATCGAAAAA	0.343																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.(337-339)gGa>gAa		GIPC PDZ domain containing family, member 2							122	125	124					1																	78546456		2203	4299	6502	SO:0001583	missense	54810					cytoplasm		g.chr1:78546456G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.338G>A	1.37:g.78546456G>A	ENSP00000359795:p.Gly113Glu					GIPC2_ENST00000476882.1_3'UTR	p.G113E	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			2	531	+			113					Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	c.338G>A	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134228	0.77662	.	.	ENSG00000137960	ENST00000370759	T	0.39229	1.09	6.16	6.16	0.99307	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69723	-0.5068	10	0.87932	D	0	-0.4158	20.8598	0.99761	0.0:0.0:1.0:0.0	.	113	Q8TF65	GIPC2_HUMAN	E	113	ENSP00000359795:G113E	ENSP00000359795:G113E	G	+	2	0	GIPC2	78319044	1.000000	0.71417	0.991000	0.47740	0.312000	0.27988	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GGA		0.343	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		3	36	0	0	0	1	0	3	36					A	78546456	G	A	78546456	3	1	59	1	0	0	0	0	1	0	0	0	6393	1174	41	3	344	3	GIPC2	1	78546456	Missense_Mutation	SNP	G	TCGA-QT-A5XM-01A-11D-A35D-08	25159130	78546456	170704165	3	1122										
ANXA5	308	broad.mit.edu	37	chr4	122590847	122590847	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcactcctggaaaccatgacTctgatgagggtatgatcatc	9	10	3	4			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr4:122590847T>G	ENST00000296511.5	-	12	1098	c.813A>C	c.(811-813)agA>agC	p.R271S	ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S|ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	271					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AAACCATGACTCTGATGAGGG	0.373																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(811-813)agA>agC		annexin A5							104	104	104					4																	122590847		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122590847T>G	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.813A>C	4.37:g.122590847T>G	ENSP00000296511:p.Arg271Ser					ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S|ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S	p.R271S	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			12	1098	-			271					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.813A>C	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311300	0.81358	.	.	ENSG00000164111	ENST00000296511;ENST00000501272;ENST00000515017	T;T;T	0.20200	2.09;2.09;2.09	5.92	2.01	0.26516	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.90922	3.16	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.989;0.989	T	0.51919	-0.8644	10	0.87932	D	0	.	9.2519	0.37560	0.0:0.2231:0.0:0.7769	.	171;211;271	D6RBE9;D6RBL5;P08758	.;.;ANXA5_HUMAN	S	271;211;171	ENSP00000296511:R271S;ENSP00000424106:R211S;ENSP00000424199:R171S	ENSP00000296511:R271S	R	-	3	2	ANXA5	122810297	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	1.840000	0.39230	0.116000	0.18110	0.459000	0.35465	AGA		0.373	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		32	75	0	0	0	1	0	32	75					G	122590847	T	G	122590847	3	3	59	1	0	0	0	0	1	0	0	0	721	1548	54	5	157	5	ANXA5	4	122590847	Missense_Mutation	SNP	T	TCGA-QT-A5XM-01A-11D-A35D-08		122590847	68563429	4	1123										
VARS2	57176	broad.mit.edu	37	chr6	30893361	30893361	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	cctggggaccagggcctcttCgaggccttcttggagcccct	13	15	2	0			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr6:30893361C>T	ENST00000321897.5	+	27	3458	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000542001.1_Silent_p.F802F|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	942					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCCTCTTCGAGGCCTTCT	0.667																																						ENST00000321897.5																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(2824-2826)ttC>ttT		valyl-tRNA synthetase 2, mitochondrial							22	27	25					6																	30893361		1486	2696	4182	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30893361C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2826C>T	6.37:g.30893361C>T						VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000542001.1_Silent_p.F802F	p.F942F			Q5ST30	SYVM_HUMAN			27	3458	+			942					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.2826C>T	CCDS34387.1																																																																																				0.667	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		13	33	0	0	0	1	0	13	33					T	30893361	C	T	30893361	2	4	59	1	0	0	0	0	0	0	0	1	17121	883	31	2		2	VARS2	6	30893361	Silent	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		30893361	140221706	5	1124										
RET	5979	broad.mit.edu	37	chr10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcggattccagttaaatggaTggcaattgaatccctttttg	9	7	0	1	rs74799832		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	247	Substitution - Missense(247)	p.M918T(247)	thyroid(231)|adrenal_gland(16)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM941246	RET	M	rs74799832	c.(2752-2754)aTg>aCg		ret proto-oncogene	Sunitinib(DB01268)						262	244	250					10																	43617416		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617416T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2753T>C	10.37:g.43617416T>C	ENSP00000347942:p.Met918Thr					RET_ENST00000340058.5_Missense_Mutation_p.M918T	p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	2985	+		Ovarian(717;0.0423)	918		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2753T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427864	0.83667	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90504	-2.68;-2.68	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.52126	1.63	0.80722	A	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94557	0.7759	9	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	664;918;918	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	918	ENSP00000347942:M918T;ENSP00000344798:M918T	ENSP00000344798:M918T	M	+	2	0	RET	42937422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.198000	0.70561	0.533000	0.62120	ATG		0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		39	109	0	0	0	1	0	39	109					C	43617416	T	C	43617416	3	2	59	1	0	0	0	0	1	0	0	0	13235	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-QT-A5XM-01A-11D-A35D-08		43617416	91917331	6	1125										
MKI67	4288	broad.mit.edu	37	chr10	129904639	129904639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagcctgggccttttccttaCgagtttgtagccgtctattg	11	10	1	0	rs200958563		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr10:129904639C>T	ENST00000368654.3	-	13	5840	c.5465G>A	c.(5464-5466)cGt>cAt	p.R1822H	MKI67_ENST00000368653.3_Missense_Mutation_p.R1462H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1822	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTTCCTTACGAGTTTGTAG	0.473																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5464-5466)cGt>cAt		marker of proliferation Ki-67		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	192	186	188		4385,5465	-0.3	0	10		188	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	1462/2897,1822/3257	129904639	2,13004	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904639C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5465G>A	10.37:g.129904639C>T	ENSP00000357643:p.Arg1822His					MKI67_ENST00000368653.3_Missense_Mutation_p.R1462H	p.R1822H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5840	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1822			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5465G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	7.105	0.574936	0.13623	0.0	2.33E-4	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02140	4.43;4.43	2.9	-0.288	0.12855	.	1.559940	0.04329	N	0.352019	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B;D;P	0.55385	0.001;0.971;0.807	B;B;B	0.43575	0.002;0.424;0.261	T	0.33599	-0.9862	10	0.39692	T	0.17	.	2.7888	0.05381	0.1075:0.1809:0.5294:0.1822	.	1821;1462;1822	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	H	1822;1462;1821	ENSP00000357643:R1822H;ENSP00000357642:R1462H	ENSP00000357642:R1462H	R	-	2	0	MKI67	129794629	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.209000	0.09358	-0.195000	0.10382	-1.371000	0.01190	CGT		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	161	0	0	0	1	0	7	161					T	129904639	C	T	129904639	3	4	59	1	0	0	0	0	1	0	0	0	9598	536	19	1	4317	1	MKI67	10	129904639	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08	86287223	129904639	5630108	7	1126										
DAZAP2	9802	broad.mit.edu	37	chr12	51636117	51636117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	atgtcatttcctttcagcctCcacctcctggatgccctccc	5	18	2	0			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr12:51636117C>T	ENST00000412716.3	+	4	998	c.382C>T	c.(382-384)Cca>Tca	p.P128S	DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S|DAZAP2_ENST00000604900.1_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	128	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTTTCAGCCTCCACCTCCTGG	0.542																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(382-384)Cca>Tca		DAZ associated protein 2							332	329	330					12																	51636117		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636117C>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.382C>T	12.37:g.51636117C>T	ENSP00000394699:p.Pro128Ser					DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S|DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S	p.P128S			Q15038	DAZP2_HUMAN			4	998	+			128			Pro-rich.		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.382C>T	CCDS8809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.967881|3.967881	0.74131|0.74131	.|.	.|.	ENSG00000183283|ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313|ENST00000549555	T;T;T;T;T|T	0.66815|0.51325	-0.23;-0.23;-0.23;-0.23;-0.23|0.71	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59851|0.59851	0.2224|0.2224	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D|D	0.76494|0.54207	0.999;0.991;0.997|0.965	D;D;D|P	0.87578|0.47981	0.998;0.96;0.992|0.563	T|T	0.66878|0.66878	-0.5812|-0.5812	10|9	0.41790|0.87932	T|D	0.15|0	-2.6768|-2.6768	18.4195|18.4195	0.90584|0.90584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	96;46;128|102	C9JP84;C9JA96;Q15038|F8VU62	.;.;DAZP2_HUMAN|.	S|F	128;46;96;106;68|102	ENSP00000394699:P128S;ENSP00000398804:P46S;ENSP00000446554:P96S;ENSP00000412812:P106S;ENSP00000447842:P68S|ENSP00000448051:S102F	ENSP00000394699:P128S|ENSP00000448051:S102F	P|S	+|+	1|2	0|0	DAZAP2|DAZAP2	49922384|49922384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.969000|6.969000	0.76092|0.76092	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		88	235	0	0	0	1	0	88	235					T	51636117	C	T	51636117	3	4	59	1	0	0	0	0	1	0	0	0	4245	855	30	3	396	3	DAZAP2	12	51636117	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		51636117	82215778	8	1127										
C19orf43	79002	broad.mit.edu	37	chr19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttgagggctagtttgttccCgcctctgcgtttgcccacct	10	14	1	1	rs186539758		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													C|||	1	0.000199681	0	0	5008	,	,		16684	0.001		0	False		,,,				2504	0					ENST00000242784.4																			0				endometrium(2)|large_intestine(2)	4						c.(364-366)Ggg>Agg		chromosome 19 open reading frame 43							151	123	133					19																	12842217		2203	4300	6503	SO:0001583	missense	79002							g.chr19:12842217C>T	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 18"					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.364G>A	19.37:g.12842217C>T	ENSP00000242784:p.Gly122Arg					C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	p.G122R	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN			2	481	-			122						Missense_Mutation	SNP	ENST00000242784.4	37	c.364G>A	CCDS12279.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	C19orf43	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG		0.597	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		4	46	0	0	0	1	0	4	46					T	12842217	C	T	12842217	3	4	59	1	0	0	0	0	1	0	0	0	1926	652	23	2	174	2	C19orf43	19	12842217	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		12842217	46286766	9	1128										
EIF3L	51386	broad.mit.edu	37	chr22	38273774	38273774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agagcattcacctccagctgCgggagaaatatggggacaag	13	9	1	2			TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chr22:38273774C>T	ENST00000412331.2	+	11	1753	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W|EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTCCAGCTGCGGGAGAAATA	0.512																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1171-1173)Cgg>Tgg		eukaryotic translation initiation factor 3, subunit L							100	83	89					22																	38273774		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273774C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1171C>T	22.37:g.38273774C>T	ENSP00000416892:p.Arg391Trp					EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W|EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W	p.R391W	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			11	1753	+			391						Missense_Mutation	SNP	ENST00000412331.2	37	c.1171C>T	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	c	18.94	3.730614	0.69074	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.47528	0.84;0.84;0.84	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.964;0.939;0.992;0.994	T	0.78001	-0.2375	10	0.87932	D	0	-22.6805	13.5371	0.61652	0.156:0.844:0.0:0.0	.	343;293;391;434	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	W	391;434;343;358;293	ENSP00000416892:R391W;ENSP00000371099:R343W;ENSP00000384634:R293W	ENSP00000262832:R358W	R	+	1	2	EIF3L	36603720	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.240000	0.43088	2.436000	0.82500	0.436000	0.28706	CGG		0.512	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		22	27	0	0	0	1	0	22	27					T	38273774	C	T	38273774	3	4	59	1	0	0	0	0	1	0	0	0	5022	759	27	1	1213	1	EIF3L	22	38273774	Missense_Mutation	SNP	C	TCGA-QT-A5XM-01A-11D-A35D-08		38273774	13030792	10	1129										
H2BFWT	158983	broad.mit.edu	37	chrX	103267771	103267771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccttcgtgccttcggactcGgcgagcttgcccatctgccc	11	17	1	0	rs139759218		TCGA-QT-A5XM-01A-11D-A35D-08	TCGA-QT-A5XM-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b417a8d-25d1-49e0-8de4-d9e58e0af2c0	6e73178e-5d94-4332-b642-74b6c3da2990	g.chrX:103267771G>A	ENST00000217926.5	-	1	488	c.462C>T	c.(460-462)gcC>gcT	p.A154A	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	154						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CTTCGGACTCGGCGAGCTTGC	0.662																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(460-462)gcC>gcT		H2B histone family, member W, testis-specific		G		0,3831		0,0,1631,569	32	33	32		462	-2.4	0	X	dbSNP_134	32	1,6720		0,1,2425,1869	no	coding-synonymous	H2BFWT	NM_001002916.3		0,1,4056,2438	AA,AG,GG,G		0.0149,0.0,0.0095		154/176	103267771	1,10551	2200	4295	6495	SO:0001819	synonymous_variant	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267771G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"Histones / Replication-independent"	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.462C>T	X.37:g.103267771G>A							p.A154A	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	488	-			154					B1AK72|Q147W3	Silent	SNP	ENST00000217926.5	37	c.462C>T	CCDS35362.1																																																																																				0.662	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		9	24	0	0	0	1	0	9	24					A	103267771	G	A	103267771	2	1	59	1	0	0	0	0	0	0	0	1	6932	1103	39	2		2	H2BFWT	23	103267771	Silent	SNP	G	TCGA-QT-A5XM-01A-11D-A35D-08		103267771	52002789	11	1130										
SLC26A9	115019	broad.mit.edu	37	chr1	205884502	205884502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	ccctcacagggcggtcagggTctctgcgtgaaacatgctcc	12	14	3	1			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr1:205884502T>G	ENST00000367135.3	-	21	2472	c.2359A>C	c.(2359-2361)Acc>Ccc	p.T787P	SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	787					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCGGTCAGGGTCTCTGCGTGA	0.592																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(2359-2361)Acc>Ccc		solute carrier family 26 (anion exchanger), member 9							107	98	101					1																	205884502		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205884502T>G	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2359A>C	1.37:g.205884502T>G	ENSP00000356103:p.Thr787Pro					SLC26A9_ENST00000340781.4_Missense_Mutation_p.T787P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.T787P	p.T787P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		21	2472	-	Breast(84;0.201)		787					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.2359A>C	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577974	0.86645	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93763	-3.28;-3.19;-3.28	5.44	5.44	0.79542	.	0.171322	0.40302	N	0.001126	D	0.93086	0.7799	L	0.29908	0.895	0.41389	D	0.9876	D;P	0.64830	0.994;0.917	P;B	0.59288	0.855;0.353	D	0.93670	0.6989	10	0.52906	T	0.07	.	14.3224	0.66496	0.0:0.0:0.0:1.0	.	787;787	Q7LBE3;B1AVM8	S26A9_HUMAN;.	P	787	ENSP00000341682:T787P;ENSP00000356103:T787P;ENSP00000356102:T787P	ENSP00000341682:T787P	T	-	1	0	SLC26A9	204151125	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.686000	0.46968	2.062000	0.61559	0.379000	0.24179	ACC		0.592	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		34	95	0	0	0	1	0	34	95					G	205884502	T	G	205884502	3	3	60	1	0	0	0	0	1	0	0	0	14524	1667	58	5	316	5	SLC26A9	1	205884502	Missense_Mutation	SNP	T	TCGA-QT-A5XN-01A-11D-A35D-08		205884502	43366119	1	1131										
OBSCN	84033	broad.mit.edu	37	chr1	228547476	228547476	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	gcaggccggaggcagaaccaGgccagaagcccgtggtgccc	16	14	0	2			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr1:228547476G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.G6295S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCAGAACCAGGCCAGAAGCC	0.706																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18883-18885)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12	14	14					1																	228547476		2013	4180	6193	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547476G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2801G>A	1.37:g.228547476G>A						OBSCN_ENST00000366709.4_Missense_Mutation_p.G3414S|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron	p.G6295S			Q5VST9	OBSCN_HUMAN			81	18957	+		Prostate(94;0.0405)	7118					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18883G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654675	0.29425	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.55052	0.54;0.69	4.56	4.56	0.56223	.	.	.	.	.	T	0.44623	0.1302	M	0.63428	1.95	0.09310	N	1	B	0.33583	0.418	B	0.30855	0.121	T	0.35674	-0.9779	9	0.09084	T	0.74	.	10.3689	0.44042	0.0904:0.0:0.9096:0.0	.	6295	Q5VST9-3	.	S	6295;3414	ENSP00000284548:G6295S;ENSP00000355670:G3414S	ENSP00000284548:G6295S	G	+	1	0	OBSCN	226614099	0.001000	0.12720	0.093000	0.20910	0.065000	0.16274	0.663000	0.25053	2.379000	0.81126	0.556000	0.70494	GGC		0.706	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	8	0	0	0	1	0	13	8					A	228547476	G	A	228547476	1	1	60	0	1	0	0	0	0	0	0	0	10812	1000	35	3		3	OBSCN	1	228547476	Intron	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08	22662974	228547476	20703145	2	1132										
USP34	9736	broad.mit.edu	37	chr2	61486850	61486850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	tgattcttaaacataccattAaatatgtaaacattttctga	3	6	2	2			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr2:61486850A>G	ENST00000398571.2	-	44	5916	c.5840T>C	c.(5839-5841)tTa>tCa	p.L1947S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1947	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATACCATTAAATATGTAAA	0.408																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5839-5841)tTa>tCa		ubiquitin specific peptidase 34							70	66	67					2																	61486850		1866	4095	5961	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61486850A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5840T>C	2.37:g.61486850A>G	ENSP00000381577:p.Leu1947Ser						p.L1947S	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		44	5916	-			1947					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.5840T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615733	0.87359	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.09073	3.02;3.02	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.37892	0.1020	M	0.91459	3.21	0.58432	D	0.99999	D	0.76494	0.999	D	0.91635	0.999	T	0.48906	-0.8993	10	0.87932	D	0	.	15.6055	0.76668	1.0:0.0:0.0:0.0	.	1947	Q70CQ2	UBP34_HUMAN	S	1795;1795;1947;225	ENSP00000381577:L1947S;ENSP00000410559:L225S	ENSP00000263989:L1795S	L	-	2	0	USP34	61340354	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.996000	0.76263	2.152000	0.67230	0.533000	0.62120	TTA		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			25	29	0	0	0	1	0	25	29					G	61486850	A	G	61486850	3	3	60	1	0	0	0	0	1	0	0	0	17062	372	13	4	4948	4	USP34	2	61486850	Missense_Mutation	SNP	A	TCGA-QT-A5XN-01A-11D-A35D-08		61486850	181712523	3	1133										
MERTK	10461	broad.mit.edu	37	chr2	112686863	112686863	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	cctggaagaccacatacaggAaacgtagccattccccaggt	9	13	0	1			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr2:112686863A>T	ENST00000295408.4	+	2	485	c.228A>T	c.(226-228)ggA>ggT	p.G76G	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Silent_p.G76G|RN7SL297P_ENST00000483161.2_RNA			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	76					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACATACAGGAAACGTAGCCA	0.507																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(226-228)ggA>ggT		c-mer proto-oncogene tyrosine kinase							109	88	95					2																	112686863		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112686863A>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.228A>T	2.37:g.112686863A>T						MERTK_ENST00000421804.2_Silent_p.G76G|MERTK_ENST00000409780.1_Intron	p.G76G			Q12866	MERTK_HUMAN			2	485	+			76					Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.228A>T	CCDS2094.1																																																																																				0.507	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			18	16	0	0	0	1	0	18	16					T	112686863	A	T	112686863	2	4	60	1	0	0	0	0	0	0	0	1	9479	233	9	5		5	MERTK	2	112686863	Silent	SNP	A	TCGA-QT-A5XN-01A-11D-A35D-08	51200013	112686863	130512510	4	1134										
SCN5A	6331	broad.mit.edu	37	chr3	38639331	38639331	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	gtgatggtgaggtcagtaaaCgggtccatgaccaccaactt	12	9	1	3	rs191840835		TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr3:38639331C>T	ENST00000333535.4	-	14	2300	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P	SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000413689.1_Silent_p.P717P|SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000455624.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	717					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCAGTAAACGGGTCCATGA	0.547													C|||	1	0.000199681	0	0	5008	,	,		22591	0.001		0	False		,,,				2504	0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2149-2151)ccG>ccA		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						154	157	156					3																	38639331		2153	4265	6418	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639331C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2151G>A	3.37:g.38639331C>T						SCN5A_ENST00000423572.2_Silent_p.P717P|SCN5A_ENST00000414099.2_Silent_p.P717P|SCN5A_ENST00000451551.2_Silent_p.P717P|SCN5A_ENST00000450102.2_Silent_p.P717P|SCN5A_ENST00000449557.2_Silent_p.P717P|SCN5A_ENST00000443581.1_Silent_p.P717P|SCN5A_ENST00000333535.4_Silent_p.P717P|SCN5A_ENST00000425664.1_Silent_p.P717P|SCN5A_ENST00000455624.2_Silent_p.P717P	p.P717P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2344	-	Medulloblastoma(35;0.163)		717					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2151G>A	CCDS46796.1																																																																																				0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		29	12	0	0	0	1	0	29	12					T	38639331	C	T	38639331	2	4	60	1	0	0	0	0	0	0	0	1	13922	523	19	1		1	SCN5A	3	38639331	Silent	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08		38639331	159383099	5	1135										
BOD1L	259282	broad.mit.edu	37	chr4	13601677	13601677	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	gtcacccatctcttccgctgGtgtgactgaggggtcgcctt	12	13	2	2			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr4:13601677G>C	ENST00000040738.5	-	10	6982	c.6847C>G	c.(6847-6849)Cca>Gca	p.P2283A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2283						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTTCCGCTGGTGTGACTGAG	0.562																																						ENST00000040738.5																			0											c.(6847-6849)Cca>Gca		biorientation of chromosomes in cell division 1-like 1							63	55	57					4																	13601677		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601677G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6847C>G	4.37:g.13601677G>C	ENSP00000040738:p.Pro2283Ala						p.P2283A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	6982	-			2283					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.6847C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	5.041	0.193221	0.09599	.	.	ENSG00000038219	ENST00000040738	T	0.06608	3.28	5.24	2.07	0.26955	.	0.848596	0.09952	N	0.734522	T	0.04634	0.0126	L	0.34521	1.04	0.09310	N	1	B	0.32918	0.39	B	0.27380	0.079	T	0.44329	-0.9335	10	0.18276	T	0.48	-4.4295	6.8818	0.24177	0.0:0.2906:0.3408:0.3686	.	2283	Q8NFC6	BOD1L_HUMAN	A	2283	ENSP00000040738:P2283A	ENSP00000040738:P2283A	P	-	1	0	BOD1L	13210775	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.349000	0.20055	0.548000	0.28955	-0.315000	0.08773	CCA		0.562	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		14	13	0	0	0	1	0	14	13					C	13601677	G	C	13601677	3	2	60	1	0	0	0	0	1	0	0	0	1483	1261	44	5	2376	5	BOD1L	4	13601677	Missense_Mutation	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		13601677	177552599	6	1136										
ANKRD56	345079	broad.mit.edu	37	chr4	77818089	77818090	+	In_Frame_Ins	INS	-	-	GCT													0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	ggccacccactctcgagtgcINSgctgctgctgctgctgcagg					rs140725545|rs112402456	byFrequency	TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr4:77818089_77818090insGCT	ENST00000334306.2	-	1	912_913	c.913_914insAGC	c.(913-915)cgc>cAGCgc	p.304_305insQ		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	304	Poly-Gln.																CTCTCGAGTGCGCTGCTGCTGC	0.713														70	0.0139776	0.0492	0.0043	5008	,	,		15762	0		0.001	False		,,,				2504	0.001					ENST00000334306.2																			0											c.(913-915)cac>AGCcac		sosondowah ankyrin repeat domain family member B																																				SO:0001652	inframe_insertion	345079							g.chr4:77818089_77818090insGCT		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.911_913dupAGC	4.37:g.77818096_77818098dupGCT	ENSP00000334879:p.Gln304_Gln304dup						p.304_305insS	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	912_913	-			304			Poly-Gln.		B2RP29	In_Frame_Ins	INS	ENST00000334306.2	37	c.913_914insAGC	CCDS34017.1																																																																																				0.713	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		8	10						8	10	---	---	---	---	GCT	77818090	-	GCT	77818089	7	5	60	1	0	1	1	0	0	0	0	0	682	768	27	0	1471	0	ANKRD56	4	77818089	In_Frame_Ins	INS	-	TCGA-QT-A5XN-01A-11D-A35D-08	64216412	77818089	113336187	7	1137										
MATR3	9782	broad.mit.edu	37	chr5	138651823	138651823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	caccaggaattctgggacctCcacctccctcatttcatctt	5	16	4	0			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr5:138651823C>T	ENST00000394805.3	+	5	1410	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000394800.2_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S|MATR3_ENST00000361059.2_Missense_Mutation_p.P359S	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	359					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTGGGACCTCCACCTCCCTC	0.413																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1075-1077)Cca>Tca		matrin 3							103	107	105					5																	138651823		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138651823C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1075C>T	5.37:g.138651823C>T	ENSP00000378284:p.Pro359Ser					MATR3_ENST00000502499.1_Missense_Mutation_p.P21S|MATR3_ENST00000361059.2_Missense_Mutation_p.P359S|MATR3_ENST00000503811.1_Missense_Mutation_p.P71S|MATR3_ENST00000502929.1_Missense_Mutation_p.P359S|MATR3_ENST00000394805.3_Missense_Mutation_p.P359S|MATR3_ENST00000504203.1_Missense_Mutation_p.P21S|MATR3_ENST00000509990.1_Missense_Mutation_p.P359S|MATR3_ENST00000510056.1_Missense_Mutation_p.P359S	p.P359S			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1624	+			359					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1075C>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571988	0.86542	.	.	ENSG00000015479	ENST00000509990;ENST00000506147;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000514528	T;T;T;T;T;T;T;T;T;T;T;T	0.77750	-0.73;-0.73;-0.27;-0.76;-0.76;-0.73;-1.11;-1.08;-1.12;-0.27;-0.75;-0.09	5.83	5.83	0.93111	.	0.115665	0.64402	D	0.000014	T	0.81833	0.4906	N	0.24115	0.695	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	0.993;1.0;0.993;1.0;0.987;1.0	D;D;D;D;D;D	0.79108	0.968;0.992;0.968;0.992;0.953;0.992	T	0.80018	-0.1558	10	0.33940	T	0.23	-5.5704	20.1162	0.97934	0.0:1.0:0.0:0.0	.	71;359;71;359;359;359	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.;.;.;.;.;MATR3_HUMAN	S	359;59;359;21;359;359;21;359;21;21;359;21;21;359;71;95	ENSP00000423533:P359S;ENSP00000354346:P359S;ENSP00000421218:P21S;ENSP00000422319:P359S;ENSP00000378279:P359S;ENSP00000378284:P359S;ENSP00000425150:P21S;ENSP00000423290:P359S;ENSP00000422700:P21S;ENSP00000426030:P21S;ENSP00000426743:P359S;ENSP00000423587:P71S	ENSP00000354346:P359S	P	+	1	0	MATR3	138679722	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	3.996000	0.57009	2.757000	0.94681	0.563000	0.77884	CCA		0.413	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		26	69	0	0	0	1	0	26	69					T	138651823	C	T	138651823	3	4	60	1	0	0	0	0	1	0	0	0	9337	855	30	3	1089	3	MATR3	5	138651823	Missense_Mutation	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08		138651823	42263437	8	1138										
KLHDC3	116138	broad.mit.edu	37	chr6	42987098	42987098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	ccagtcctgtttgcctcatgAtatcaggtacagcgagtggt	11	10	2	1			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr6:42987098A>G	ENST00000326974.4	+	10	1271	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G|KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G|RRP36_ENST00000244496.5_5'Flank	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	359					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGCCTCATGATATCAGGTAC	0.498																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1075-1077)gAt>gGt		kelch domain containing 3							227	222	223					6																	42987098		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42987098A>G	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.1076A>G	6.37:g.42987098A>G	ENSP00000313995:p.Asp359Gly					KLHDC3_ENST00000332245.8_Missense_Mutation_p.D300G|KLHDC3_ENST00000244670.8_Missense_Mutation_p.D225G	p.D359G	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		10	1271	+			359					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.1076A>G	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355806	0.41700	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.17213	3.1;2.29;3.1	5.17	5.17	0.71159	.	0.642296	0.13832	N	0.359658	T	0.11410	0.0278	L	0.51422	1.61	0.50313	D	0.999863	B;P;P;P	0.40476	0.074;0.534;0.718;0.546	B;B;B;B	0.38500	0.013;0.133;0.275;0.101	T	0.03898	-1.0994	10	0.59425	D	0.04	-8.3896	15.3285	0.74186	1.0:0.0:0.0:0.0	.	359;300;225;359	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	G	359;359;225;359;332;300	ENSP00000313995:D359G;ENSP00000244670:D225G;ENSP00000331562:D300G	ENSP00000244670:D225G	D	+	2	0	KLHDC3	43095076	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.350000	0.79385	2.087000	0.62958	0.260000	0.18958	GAT		0.498	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		76	84	0	0	0	1	0	76	84					G	42987098	A	G	42987098	3	3	60	1	0	0	0	0	1	0	0	0	8357	333	12	4	1110	4	KLHDC3	6	42987098	Missense_Mutation	SNP	A	TCGA-QT-A5XN-01A-11D-A35D-08		42987098	128127969	9	1139										
REPIN1	29803	broad.mit.edu	37	chr7	150066802	150066802	+	5'UTR	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	cagaggtctgagctctgccaTggggataggggtgtctttat	15	7	3	2			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr7:150066802T>A	ENST00000397281.2	+	0	195				RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000425389.2_5'Flank|REPIN1_ENST00000479668.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000444957.1_Intron|REPIN1_ENST00000466559.1_Intron	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1						DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTCTGCCATGGGGATAGGG	0.587																																						ENST00000479668.1																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1-3)aTg>aAg		replication initiator 1							56	62	60					7																	150066802		1943	4136	6079	SO:0001623	5_prime_UTR_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150066802T>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000397281.2:c.-295T>A	7.37:g.150066802T>A						REPIN1_ENST00000466559.1_Intron|REPIN1_ENST00000518514.1_Intron|REPIN1_ENST00000397281.2_5'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000482680.1_Start_Codon_SNP_p.M1K|REPIN1_ENST00000489432.2_Start_Codon_SNP_p.M1K|REPIN1_ENST00000540729.1_5'UTR|REPIN1_ENST00000518462.1_Intron|REPIN1_ENST00000444957.1_Intron	p.M1K			Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	90	+	Ovarian(565;0.183)|Melanoma(164;0.226)		0					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Translation_Start_Site	SNP	ENST00000397281.2	37	c.2T>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299878	0.60195	.	.	ENSG00000214022	ENST00000479668;ENST00000489432;ENST00000482680;ENST00000461637	T	0.07908	3.15	3.93	2.78	0.32641	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.80722	D	1	B	0.25105	0.118	B	0.19391	0.025	T	0.18713	-1.0328	8	0.87932	D	0	.	5.9846	0.19426	0.0:0.1162:0.0:0.8838	.	1	C9J3L7	.	K	1	ENSP00000417291:M1K	ENSP00000417756:M1K	M	+	2	0	REPIN1	149697735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.870000	0.28010	0.874000	0.35823	0.482000	0.46254	ATG		0.587	REPIN1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_014374		30	21	0	0	0	1	0	30	21					A	150066802	T	A	150066802	1	1	60	0	1	0	0	0	0	0	0	0	13227	1464	51	5		5	REPIN1	7	150066802	5'UTR	SNP	T	TCGA-QT-A5XN-01A-11D-A35D-08		150066802	9071861	10	1140										
MYOM2	9172	broad.mit.edu	37	chr8	2046698	2046698	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	tctgaataggtggacggcttGacggaaggctcactctacga	13	9	3	2			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr8:2046698G>A	ENST00000262113.4	+	19	2466	c.2325G>A	c.(2323-2325)ttG>ttA	p.L775L	MYOM2_ENST00000523438.1_Silent_p.L200L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	775	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGGACGGCTTGACGGAAGGCT	0.507																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2323-2325)ttG>ttA		myomesin 2							41	39	40					8																	2046698		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2046698G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2325G>A	8.37:g.2046698G>A						MYOM2_ENST00000523438.1_Silent_p.L200L	p.L775L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	19	2466	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	775			Fibronectin type-III 4.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2325G>A	CCDS5957.1																																																																																				0.507	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	24	0	0	0	1	0	16	24					A	2046698	G	A	2046698	2	1	60	1	0	0	0	0	0	0	0	1	10092	1281	45	3		3	MYOM2	8	2046698	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		2046698	144317324	11	1141										
NBN	4683	broad.mit.edu	37	chr8	90982714	90982714	+	Frame_Shift_Del	DEL	T	T	-													0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	gccaaaaagaaattatgttcTtcttcattctcttctgttat							TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr8:90982714delT	ENST00000265433.3	-	7	928	c.774delA	c.(772-774)gaafs	p.E259fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	259	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATTATGTTCTTCTTCATTCT	0.378								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(772-774)gafs	Homologous recombination	nibrin							100	98	98					8																	90982714		2203	4300	6503	SO:0001589	frameshift_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90982714delT	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.774delA	8.37:g.90982714delT	ENSP00000265433:p.Glu259fs					NBN_ENST00000409330.1_Frame_Shift_Del_p.E177fs	p.E259fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		7	928	-			259					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Frame_Shift_Del	DEL	ENST00000265433.3	37	c.774delA	CCDS6249.1																																																																																				0.378	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		27	83						27	83	---	---	---	---	-	90982714	T	-	90982714	7	5	60	1	0	1	0	1	0	0	0	0	10191	1606	56	0	1530	0	NBN	8	90982714	Frame_Shift_Del	DEL	T	TCGA-QT-A5XN-01A-11D-A35D-08	88936016	90982714	55381308	12	1142										
AHNAK2	113146	broad.mit.edu	37	chr14	105409427	105409427	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	agtcacatccttgtcggccaGggacaggtccccctccagct	10	16	1	0			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12361-12363)Ctg>Ttg		AHNAK nucleoprotein 2							247	258	254					14																	105409427		2014	4154	6168	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409427G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12361C>T	14.37:g.105409427G>A						AHNAK2_ENST00000557457.1_Intron	p.L4121L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12480	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4121					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12361C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	520	0	0	0	1	0	6	520					A	105409427	G	A	105409427	2	1	60	1	0	0	0	0	0	0	0	1	415	991	35	3		3	AHNAK2	14	105409427	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		105409427	1940113	13	1143										
OTOP3	347741	broad.mit.edu	37	chr17	72937759	72937759	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	atgatcttcaacaaggtggcCgtcactctgggtgacgtgtg	13	9	4	2			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr17:72937759C>T	ENST00000328801.4	+	2	345	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	115						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					ACAAGGTGGCCGTCACTCTGG	0.602																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(343-345)gcC>gcT		otopetrin 3							80	65	70					17																	72937759		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937759C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.345C>T	17.37:g.72937759C>T							p.A115A	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	345	+	all_lung(278;0.151)|Lung NSC(278;0.185)		115						Silent	SNP	ENST00000328801.4	37	c.345C>T	CCDS11709.1																																																																																				0.602	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		22	35	0	0	0	1	0	22	35					T	72937759	C	T	72937759	2	4	60	1	0	0	0	0	0	0	0	1	11307	639	23	2		2	OTOP3	17	72937759	Silent	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08		72937759	8257451	14	1144										
ZACN	353174	broad.mit.edu	37	chr17	74075788	74075788	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	ttgcccttcccccaggacatCctgcgatacacaatgtcctc	6	17	0	0			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr17:74075788C>G	ENST00000334586.5	+	3	311	c.228C>G	c.(226-228)atC>atG	p.I76M	ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	76					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCAGGACATCCTGCGATACA	0.582																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(226-228)atC>atG		zinc activated ligand-gated ion channel							118	94	102					17																	74075788		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74075788C>G	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.228C>G	17.37:g.74075788C>G	ENSP00000334854:p.Ile76Met					ZACN_ENST00000392503.2_Intron	p.I76M	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			3	311	+			76					Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.228C>G	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591650	0.66219	.	.	ENSG00000186919	ENST00000334586	T	0.77620	-1.11	4.35	4.35	0.52113	Neurotransmitter-gated ion-channel ligand-binding (3);	0.423554	0.21207	N	0.078376	D	0.85133	0.5627	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83606	0.0131	10	0.35671	T	0.21	-35.09	12.2419	0.54546	0.0:1.0:0.0:0.0	.	76	Q401N2	ZACN_HUMAN	M	76	ENSP00000334854:I76M	ENSP00000334854:I76M	I	+	3	3	ZACN	71587383	0.993000	0.37304	0.998000	0.56505	0.958000	0.62258	2.321000	0.43805	2.251000	0.74343	0.462000	0.41574	ATC		0.582	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		4	45	0	0	0	1	0	4	45					G	74075788	C	G	74075788	3	3	60	1	0	0	0	0	1	0	0	0	17507	845	30	5	238	5	ZACN	17	74075788	Missense_Mutation	SNP	C	TCGA-QT-A5XN-01A-11D-A35D-08	1138029	74075788	7119422	15	1145										
CLEC17A	388512	broad.mit.edu	37	chr19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA													0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	tttcccctggaagggaccatINSggaggaggaggaggaggatg					rs138602183|rs34295949|rs548360441	byFrequency	TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr19:14694175_14694176insGGA	ENST00000417570.1	+	2	88_89	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	RN7SL337P_ENST00000462468.2_RNA|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE|CLEC17A_ENST00000547437.1_In_Frame_Ins_p.22_23insE	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GAAGGGACCATGGAGGAGGAGG	0.579														414	0.0826677	0.174	0.0346	5008	,	,		19484	0.004		0.0656	False		,,,				2504	0.092					ENST00000547437.1																			0											c.(49-51)aga>aGGAga		C-type lectin domain family 17, member A																																				SO:0001652	inframe_insertion	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14694175_14694176insGGA	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.66_68dupGGA	19.37:g.14694182_14694184dupGGA	ENSP00000393719:p.Glu22_Glu22dup					CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR	p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			2	127_128	+			17					A8MX68|B2RTX0|B7ZMM4	In_Frame_Ins	INS	ENST00000417570.1	37	c.50_51insGGA	CCDS56087.1																																																																																				0.579	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		12	13						12	13	---	---	---	---	GGA	14694176	-	GGA	14694175	7	5	60	1	0	1	1	0	0	0	0	0	3501	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-QT-A5XN-01A-11D-A35D-08		14694175	44434808	16	1146										
NLRP4	147945	broad.mit.edu	37	chr19	56369263	56369263	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	acgacactcctgatgaagctGatgatggcctggtcggacaa	12	10	0	4			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr19:56369263G>A	ENST00000301295.6	+	3	926	c.504G>A	c.(502-504)ctG>ctA	p.L168L	NLRP4_ENST00000587891.1_Silent_p.L93L|NLRP4_ENST00000346986.5_Silent_p.L168L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	168	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGATGAAGCTGATGATGGCCT	0.502																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(502-504)ctG>ctA		NLR family, pyrin domain containing 4							127	116	119					19																	56369263		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369263G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.504G>A	19.37:g.56369263G>A						NLRP4_ENST00000346986.5_Silent_p.L168L|NLRP4_ENST00000587891.1_Silent_p.L93L	p.L168L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	926	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	168			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.504G>A	CCDS12936.1																																																																																				0.502	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		28	58	0	0	0	1	0	28	58					A	56369263	G	A	56369263	2	1	60	1	0	0	0	0	0	0	0	1	10479	1277	45	3		3	NLRP4	19	56369263	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08	41675088	56369263	2759720	17	1147										
UCKL1	54963	broad.mit.edu	37	chr20	62571398	62571398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	tctgtcccaaagtagcggtcGccaaagttccctggaaaaag	10	11	1	0			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chr20:62571398G>A	ENST00000354216.6	-	15	1620	c.1578C>T	c.(1576-1578)ggC>ggT	p.G526G	UCKL1_ENST00000369908.5_Silent_p.G511G|UCKL1_ENST00000358711.3_3'UTR|MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000369892.3_Silent_p.G526G|MIR647_ENST00000384823.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	526					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTAGCGGTCGCCAAAGTTCC	0.682																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1531-1533)ggC>ggT		uridine-cytidine kinase 1-like 1							25	24	24					20																	62571398		2192	4290	6482	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571398G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1578C>T	20.37:g.62571398G>A						UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.G526G|UCKL1_ENST00000369892.3_Silent_p.G526G	p.G511G	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			15	1832	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		526					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1533C>T	CCDS13547.1																																																																																				0.682	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		3	27	0	0	0	1	0	3	27					A	62571398	G	A	62571398	2	1	60	1	0	0	0	0	0	0	0	1	16922	1074	38	1		1	UCKL1	20	62571398	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08		62571398	454122	18	1148										
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			6	12						6	12	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	60	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-QT-A5XN-01A-11D-A35D-08		51239296	104031264	19	1149										
ESX1	80712	broad.mit.edu	37	chrX	103495314	103495314	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	2	1	1.50416666666667	0	1.88020833333333	0.333333333333333	1	0	ccgggtggcacaggcgccatGggtggcataggtgctatggg	19	9	0	0			TCGA-QT-A5XN-01A-11D-A35D-08	TCGA-QT-A5XN-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e830e5f5-a441-4daf-9431-8bf7f8e604e4	cbc0a7de-9e67-408c-874c-f6827bcc3b14	g.chrX:103495314G>T	ENST00000372588.4	-	4	899	c.816C>A	c.(814-816)ccC>ccA	p.P272P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	272	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CAGGCGCcatgggtggcatag	0.687																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(814-816)ccC>ccA		ESX homeobox 1							64	63	63					X																	103495314		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495314G>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.816C>A	X.37:g.103495314G>T							p.P272P	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	899	-			272			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.816C>A	CCDS14516.1																																																																																				0.687	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		54	58	1	0	6.56871e-35	1	7.20439e-35	54	58					T	103495314	G	T	103495314	2	4	60	1	0	0	0	0	0	0	0	1	5263	1335	47	5		5	ESX1	23	103495314	Silent	SNP	G	TCGA-QT-A5XN-01A-11D-A35D-08	52256018	103495314	51775246	20	1150										
SPEN	23013	broad.mit.edu	37	chr1	16261761	16261761	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcggggcccagcatcccagCagatcgaactgtctcccatt	9	16	1	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:16261761C>G	ENST00000375759.3	+	11	9230	c.9026C>G	c.(9025-9027)gCa>gGa	p.A3009G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3009					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCCCAGCAGATCGAACT	0.617																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9025-9027)gCa>gGa		spen family transcriptional repressor							107	100	103					1																	16261761		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261761C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9026C>G	1.37:g.16261761C>G	ENSP00000364912:p.Ala3009Gly						p.A3009G	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9230	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3009					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9026C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	3.675	-0.066812	0.07273	.	.	ENSG00000065526	ENST00000375759	T	0.08546	3.08	5.58	5.58	0.84498	.	.	.	.	.	T	0.08802	0.0218	N	0.25647	0.755	0.36475	D	0.867503	B	0.23377	0.084	B	0.19148	0.024	T	0.19877	-1.0292	9	0.49607	T	0.09	-2.6938	18.5617	0.91102	0.0:1.0:0.0:0.0	.	3009	Q96T58	MINT_HUMAN	G	3009	ENSP00000364912:A3009G	ENSP00000364912:A3009G	A	+	2	0	SPEN	16134348	0.002000	0.14202	0.904000	0.35570	0.108000	0.19459	1.278000	0.33179	2.619000	0.88677	0.561000	0.74099	GCA		0.617	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	31	0	0	0	1	0	9	31					G	16261761	C	G	16261761	3	3	61	1	0	0	0	0	1	0	0	0	15037	710	25	5	9068	5	SPEN	1	16261761	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		16261761	232988860	1	1151										
TM2D1	83941	broad.mit.edu	37	chr1	62190656	62190656	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttgaggtcctcgcacttaAgcgactcctcgcccccggcg	10	17	0	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:62190656A>C	ENST00000606498.1	-	1	157	c.137T>G	c.(136-138)cTt>cGt	p.L46R	TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000371177.2_Missense_Mutation_p.L46R|TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	46					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CTCGCACTTAAGCGACTCCTC	0.637																																						ENST00000371177.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(136-138)cTt>cGt		TM2 domain containing 1							33	40	38					1																	62190656		1935	4116	6051	SO:0001583	missense	83941				apoptosis			g.chr1:62190656A>C	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.137T>G	1.37:g.62190656A>C	ENSP00000475700:p.Leu46Arg					TM2D1_ENST00000294613.5_Missense_Mutation_p.L46R|TM2D1_ENST00000371180.2_Missense_Mutation_p.L108R|TM2D1_ENST00000606498.1_Missense_Mutation_p.L46R	p.L46R			Q9BX74	TM2D1_HUMAN			1	149	-			46					A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37	c.137T>G		.	.	.	.	.	.	.	.	.	.	A	8.085	0.773345	0.16051	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.68	-0.348	0.12613	.	0.916184	0.09244	N	0.828840	T	0.30262	0.0759	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.23018	0.043	T	0.26677	-1.0096	9	0.39692	T	0.17	-1.223	9.1324	0.36852	0.6798:0.0:0.3202:0.0	.	46	Q9BX74	TM2D1_HUMAN	R	108;46;46;46	.	ENSP00000294613:L46R	L	-	2	0	TM2D1	61963244	0.113000	0.22115	0.260000	0.24451	0.412000	0.31113	0.179000	0.16840	-0.447000	0.07138	-1.777000	0.00654	CTT		0.637	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027		3	34	0	0	0	1	0	3	34					C	62190656	A	C	62190656	3	2	61	1	0	0	0	0	1	0	0	0	15960	72	3	5	510	5	TM2D1	1	62190656	Missense_Mutation	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	45928895	62190656	187059965	2	1152										
HFM1	164045	broad.mit.edu	37	chr1	91866581	91866581	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacttacttttcaacttcaTctggtttttcaaaaaacaaa	3	8	4	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:91866581T>C	ENST00000370425.3	-	2	157	c.59A>G	c.(58-60)gAt>gGt	p.D20G	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	20					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAACTTCATCTGGTTTTTC	0.299																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(58-60)gAt>gGt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							43	45	44					1																	91866581		2201	4287	6488	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91866581T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.59A>G	1.37:g.91866581T>C	ENSP00000359454:p.Asp20Gly					HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	p.D20G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	2	157	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	20					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.59A>G	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.19|12.19	1.864969|1.864969	0.32977|0.32977	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000455133|ENST00000370421;ENST00000427444	T;T|T	0.64803|0.28895	-0.12;1.0|1.59	5.57|5.57	3.18|3.18	0.36537|0.36537	.|.	.|.	.|.	.|.	.|.	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B|.	0.21225|.	0.053;0.009|.	B;B|.	0.17722|.	0.019;0.007|.	T|T	0.09271|0.09271	-1.0682|-1.0682	9|7	0.49607|0.72032	T|D	0.09|0.01	.|.	7.5786|7.5786	0.27950|0.27950	0.0:0.1731:0.0:0.8269|0.0:0.1731:0.0:0.8269	.|.	20;20|.	B7ZM16;A2PYH4|.	.;HFM1_HUMAN|.	G|V	20;53;20;20|16	ENSP00000359454:D20G;ENSP00000409827:D20G|ENSP00000388900:M16V	ENSP00000359454:D20G|ENSP00000359450:M16V	D|M	-|-	2|1	0|0	HFM1|HFM1	91639169|91639169	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	0.597000|0.597000	0.24059|0.24059	0.363000|0.363000	0.24346|0.24346	-0.451000|-0.451000	0.05528|0.05528	GAT|ATG		0.299	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		4	9	0	0	0	1	0	4	9					C	91866581	T	C	91866581	3	2	61	1	0	0	0	0	1	0	0	0	7083	1435	50	4	4400	4	HFM1	1	91866581	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	29675925	91866581	157384040	3	1153										
OR10T2	128360	broad.mit.edu	37	chr1	158369200	158369200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctggagctcccccaggctGgagaaacccaccaggatgaa	12	13	0	2			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:158369200G>A	ENST00000334438.1	-	1	56	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCCCAGGCTGGAGAAACCCA	0.458																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(55-57)tcC>tcT		olfactory receptor, family 10, subfamily T, member 2							34	38	37					1																	158369200		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369200G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"GPCR / Class A : Olfactory receptors"	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.57C>T	1.37:g.158369200G>A							p.S19S	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	56	-	all_hematologic(112;0.0378)		19					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.57C>T	CCDS30895.1																																																																																				0.458	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		10	9	0	0	0	1	0	10	9					A	158369200	G	A	158369200	2	1	61	1	0	0	0	0	0	0	0	1	10919	1335	47	3		3	OR10T2	1	158369200	Silent	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	66502619	158369200	90881421	4	1154										
FMO3	2328	broad.mit.edu	37	chr1	171076862	171076862	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctgattttgcaactactgGccagtgggatgttaccactg	10	10	0	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:171076862G>C	ENST00000367755.4	+	4	479	c.368G>C	c.(367-369)gGc>gCc	p.G123A	FMO3_ENST00000392085.2_Missense_Mutation_p.G123A|FMO3_ENST00000538429.1_Missense_Mutation_p.G60A|FMO3_ENST00000542847.1_Missense_Mutation_p.G103A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCAACTACTGGCCAGTGGGAT	0.398																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(367-369)gGc>gCc		flavin containing monooxygenase 3							121	119	120					1																	171076862		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171076862G>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.368G>C	1.37:g.171076862G>C	ENSP00000356729:p.Gly123Ala					FMO3_ENST00000538429.1_Missense_Mutation_p.G60A|FMO3_ENST00000542847.1_Missense_Mutation_p.G103A|FMO3_ENST00000392085.2_Missense_Mutation_p.G123A	p.G123A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			4	479	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		123					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.368G>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466451	0.63625	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.994;0.993	D	0.87259	0.2278	10	0.87932	D	0	-9.8039	17.546	0.87861	0.0:0.0:1.0:0.0	.	60;103;123	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	A	123;123;103;60	ENSP00000356729:G123A;ENSP00000375935:G123A;ENSP00000444073:G103A;ENSP00000439500:G60A	ENSP00000356729:G123A	G	+	2	0	FMO3	169343486	1.000000	0.71417	0.920000	0.36463	0.037000	0.13140	9.864000	0.99589	2.201000	0.70794	0.591000	0.81541	GGC		0.398	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		14	42	0	0	0	1	0	14	42					C	171076862	G	C	171076862	3	2	61	1	0	0	0	0	1	0	0	0	5956	1203	42	5	378	5	FMO3	1	171076862	Missense_Mutation	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	12707662	171076862	78173759	5	1155										
CACYBP	27101	broad.mit.edu	37	chr1	174977818	174977818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggattacctgacccaggTtgaaaaggagtgcaaagaaa	13	6	0	3			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:174977818T>C	ENST00000367679.2	+	5	954	c.506T>C	c.(505-507)gTt>gCt	p.V169A	MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.V126A|CACYBP_ENST00000367681.2_Missense_Mutation_p.V126A	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	169	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CTGACCCAGGTTGAAAAGGAG	0.333																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(376-378)gTt>gCt		calcyclin binding protein							85	83	84					1																	174977818		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174977818T>C	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.506T>C	1.37:g.174977818T>C	ENSP00000356652:p.Val169Ala					CACYBP_ENST00000405362.1_Missense_Mutation_p.V126A|CACYBP_ENST00000367679.2_Missense_Mutation_p.V169A	p.V126A	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			5	1017	+			169			CS.|Interaction with SKP1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.377T>C	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034696	0.54896	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	5.41	5.41	0.78517	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.62723	1.935	0.80722	D	1	B	0.19073	0.033	B	0.33620	0.167	T	0.65948	-0.6044	9	0.39692	T	0.17	0.2141	15.0861	0.72155	0.0:0.0:0.0:1.0	.	169	Q9HB71	CYBP_HUMAN	A	126;142;169;126	.	ENSP00000356652:V169A	V	+	2	0	CACYBP	173244441	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	6.399000	0.73248	2.052000	0.61016	0.533000	0.62120	GTT		0.333	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		10	29	0	0	0	1	0	10	29					C	174977818	T	C	174977818	3	2	61	1	0	0	0	0	1	0	0	0	2564	1725	60	4	524	4	CACYBP	1	174977818	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	3900956	174977818	74272803	6	1156										
KCTD3	51133	broad.mit.edu	37	chr1	215792612	215792612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccgtagttcagcatagccActtacgagaatcaaattcta	6	10	3	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:215792612A>G	ENST00000259154.4	+	17	2159	c.1865A>G	c.(1864-1866)cAc>cGc	p.H622R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	622					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAGCATAGCCACTTACGAGAA	0.363																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1864-1866)cAc>cGc		potassium channel tetramerization domain containing 3							123	129	127					1																	215792612		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792612A>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1865A>G	1.37:g.215792612A>G	ENSP00000259154:p.His622Arg					KCTD3_ENST00000495537.1_3'UTR	p.H622R	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	17	2159	+			622					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1865A>G	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	0.269	-0.994361	0.02145	.	.	ENSG00000136636	ENST00000259154	T	0.35048	1.33	5.65	3.78	0.43462	.	0.159548	0.56097	N	0.000021	T	0.07593	0.0191	N	0.00138	-2.015	0.23293	N	0.997966	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36138	-0.9760	10	0.02654	T	1	-4.8796	11.6263	0.51147	0.1408:0.0:0.8592:0.0	.	372;374;620;622	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	R	622	ENSP00000259154:H622R	ENSP00000259154:H622R	H	+	2	0	KCTD3	213859235	1.000000	0.71417	0.723000	0.30687	0.351000	0.29236	5.388000	0.66249	0.732000	0.32470	-0.472000	0.04984	CAC		0.363	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		14	75	0	0	0	1	0	14	75					G	215792612	A	G	215792612	3	3	61	1	0	0	0	0	1	0	0	0	8110	159	6	4	1931	4	KCTD3	1	215792612	Missense_Mutation	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	40814794	215792612	33458009	7	1157										
EGLN1	54583	broad.mit.edu	37	chr1	231556829	231556829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgctcatgagcagcccaAtggtttcgcagccgggctcc	12	14	1	1	rs541542280		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:231556829A>G	ENST00000366641.3	-	1	3961	c.806T>C	c.(805-807)aTt>aCt	p.I269T	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				GAGCAGCCCAATGGTTTCGCA	0.577													A|||	1	0.000199681	0	0.0014	5008	,	,		18297	0		0	False		,,,				2504	0					ENST00000366641.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(805-807)aTt>aCt		egl-9 family hypoxia-inducible factor 1	Vitamin C(DB00126)						106	99	101					1																	231556829		2203	4300	6503	SO:0001583	missense	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231556829A>G	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"Zinc fingers, MYND-type"	1232	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 2"	606425	"EGL nine (C.elegans) homolog 1", "egl nine homolog 1 (C. elegans)"	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.806T>C	1.37:g.231556829A>G	ENSP00000355601:p.Ile269Thr						p.I269T	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN			1	3961	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	269						Missense_Mutation	SNP	ENST00000366641.3	37	c.806T>C	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937891	0.92526	.	.	ENSG00000135766	ENST00000366641	D	0.87966	-2.32	4.94	4.94	0.65067	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93913	0.8052	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94897	0.8053	10	0.72032	D	0.01	-12.4207	14.8883	0.70587	1.0:0.0:0.0:0.0	.	269	Q9GZT9	EGLN1_HUMAN	T	269	ENSP00000355601:I269T	ENSP00000355601:I269T	I	-	2	0	EGLN1	229623452	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	9.119000	0.94362	1.954000	0.56735	0.460000	0.39030	ATT		0.577	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		9	45	0	0	0	1	0	9	45					G	231556829	A	G	231556829	3	3	61	1	0	0	0	0	1	0	0	0	4968	101	4	4	494	4	EGLN1	1	231556829	Missense_Mutation	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	15764217	231556829	17693792	8	1158										
WDR64	128025	broad.mit.edu	37	chr1	241886684	241886684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacacatgttcagtatcgcCgagatcgtaaccaatgaaaa	9	9	1	2	rs142859030		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr1:241886684C>T	ENST00000366552.2	+	9	1317	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	WDR64_ENST00000437684.2_Silent_p.A370A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	370										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCAGTATCGCCGAGATCGTAA	0.418													C|||	1	0.000199681	0	0	5008	,	,		19451	0		0.001	False		,,,				2504	0					ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1108-1110)gcC>gcT		WD repeat domain 64							105	99	101					1																	241886684		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241886684C>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1110C>T	1.37:g.241886684C>T						WDR64_ENST00000437684.2_Silent_p.A370A	p.A370A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		9	1317	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	370					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.1110C>T																																																																																					0.418	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		4	24	0	0	0	1	0	4	24					T	241886684	C	T	241886684	2	4	61	1	0	0	0	0	0	0	0	1	17312	639	23	2		2	WDR64	1	241886684	Silent	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	10329855	241886684	7363937	9	1159										
YWHAQ	10971	broad.mit.edu	37	chr2	9728380	9728380	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagagcaagccccaggcggaTtgggtgtgtgggttgcatct	16	8	1	1	rs200884745		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:9728380T>C	ENST00000381844.4	-	3	659	c.496A>G	c.(496-498)Atc>Gtc	p.I166V	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	166					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCCAGGCGGATTGGGTGTGTG	0.423													T|||	1	0.000199681	0	0.0014	5008	,	,		17307	0		0	False		,,,				2504	0					ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(496-498)Atc>Gtc		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							108	104	105					2																	9728380		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9728380T>C	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.496A>G	2.37:g.9728380T>C	ENSP00000371267:p.Ile166Val					YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166V|YWHAQ_ENST00000474715.1_5'UTR	p.I166V			P27348	1433T_HUMAN		Epithelial(75;0.241)	3	659	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		166					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.496A>G	CCDS1666.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	25.8	4.676107	0.88445	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.49720	0.77;0.77	5.56	5.56	0.83823	14-3-3 domain (4);	0.068749	0.56097	N	0.000032	T	0.62539	0.2436	M	0.74467	2.265	0.58432	D	0.999992	P	0.49358	0.923	P	0.53006	0.715	T	0.67764	-0.5586	10	0.87932	D	0	.	16.0623	0.80847	0.0:0.0:0.0:1.0	.	166	P27348	1433T_HUMAN	V	166;166;131	ENSP00000238081:I166V;ENSP00000371267:I166V	ENSP00000238081:I166V	I	-	1	0	YWHAQ	9645831	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	6.256000	0.72473	2.250000	0.74265	0.456000	0.33151	ATC		0.423	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		4	53	0	0	0	1	0	4	53					C	9728380	T	C	9728380	3	2	61	1	0	0	0	0	1	0	0	0	17502	1493	52	4	253	4	YWHAQ	2	9728380	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08		9728380	233470993	10	1160										
ANKRD36	375248	broad.mit.edu	37	chr2	97856721	97856721	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttgcttttcagtgtcttCtcagaaacaaccagccttga	6	10	3	2			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:97856721C>A	ENST00000461153.2	+	35	2496	c.2252C>A	c.(2251-2253)tCt>tAt	p.S751Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S751Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	751										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGTGTCTTCTCAGAAACAA	0.299																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2251-2253)tCt>tAt		ankyrin repeat domain 36							179	140	152					2																	97856721		692	1590	2282	SO:0001583	missense	375248							g.chr2:97856721C>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2252C>A	2.37:g.97856721C>A	ENSP00000419530:p.Ser751Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.S751Y	p.S751Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			35	2496	+			751					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2252C>A	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	9.609	1.130808	0.21041	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.77750	-1.12;-1.12	0.926	-0.0361	0.13890	.	.	.	.	.	T	0.62429	0.2427	L	0.42245	1.32	0.09310	N	0.999998	P	0.50156	0.932	B	0.37780	0.258	T	0.55742	-0.8093	9	0.54805	T	0.06	.	3.3133	0.07024	0.0:0.6894:0.0:0.3106	.	751	A6QL64	AN36A_HUMAN	Y	751;751;113	ENSP00000419530:S751Y;ENSP00000391950:S751Y	ENSP00000391950:S751Y	S	+	2	0	ANKRD36	97220448	0.972000	0.33761	0.094000	0.20943	0.233000	0.25261	0.855000	0.27805	-0.013000	0.14199	0.175000	0.17021	TCT		0.299	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	11	1	0	0.0215528	1	0.0222059	3	11					A	97856721	C	A	97856721	3	1	61	1	0	0	0	0	1	0	0	0	665	913	32	5	2390	5	ANKRD36	2	97856721	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	88128341	97856721	145342652	11	1161										
MBD5	55777	broad.mit.edu	37	chr2	149227977	149227977	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatttcaacgtcctccactcCagtgataccaaacagcattg	5	13	1	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:149227977C>G	ENST00000407073.1	+	9	3462	c.2465C>G	c.(2464-2466)cCa>cGa	p.P822R	MBD5_ENST00000404807.1_Missense_Mutation_p.P822R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	822					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCTCCACTCCAGTGATACCA	0.423																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2464-2466)cCa>cGa		methyl-CpG binding domain protein 5							73	71	72					2																	149227977		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227977C>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2465C>G	2.37:g.149227977C>G	ENSP00000386049:p.Pro822Arg					MBD5_ENST00000404807.1_Missense_Mutation_p.P822R	p.P822R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3462	+			822					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2465C>G	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.091|9.091	1.001802|1.001802	0.19121|0.19121	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.45668|.	0.9;0.89|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.64402|.	D|.	0.000017|.	T|T	0.51584|0.51584	0.1683|0.1683	N|N	0.19112|0.19112	0.55|0.55	0.39494|0.39494	D|D	0.968099|0.968099	D;D|.	0.69078|.	0.991;0.997|.	P;D|.	0.63793|.	0.686;0.918|.	T|T	0.49123|0.49123	-0.8972|-0.8972	10|5	0.66056|.	D|.	0.02|.	-5.0769|-5.0769	16.4755|16.4755	0.84131|0.84131	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	822;822|.	Q9P267-2;Q9P267|.	.;MBD5_HUMAN|.	R|E	822|562	ENSP00000386049:P822R;ENSP00000384672:P822R|.	ENSP00000384672:P822R|.	P|Q	+|+	2|1	0|0	MBD5|MBD5	148944447|148944447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.642000|5.642000	0.67888|0.67888	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			16	31	0	0	0	1	0	16	31					G	149227977	C	G	149227977	3	3	61	1	0	0	0	0	1	0	0	0	9347	594	21	5	2479	5	MBD5	2	149227977	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	51371256	149227977	93971396	12	1162										
SH3BP4	23677	broad.mit.edu	37	chr2	235950986	235950986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggtggccctgcagctgtggGggaagcaccagttcgttttg	16	10	0	0			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr2:235950986G>A	ENST00000409212.1	+	4	2080	c.1573G>A	c.(1573-1575)Ggg>Agg	p.G525R	SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R|SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	525					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCAGCTGTGGGGGAAGCACCA	0.572																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1573-1575)Ggg>Agg		SH3-domain binding protein 4							63	65	65					2																	235950986		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950986G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1573G>A	2.37:g.235950986G>A	ENSP00000386862:p.Gly525Arg					SH3BP4_ENST00000392011.2_Missense_Mutation_p.G525R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G525R	p.G525R			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2080	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	525					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1573G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056540	0.55325	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.16457	2.34;2.34;2.34	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.48692	-0.9013	10	0.87932	D	0	-26.6651	16.8005	0.85613	0.0:0.0:1.0:0.0	.	525;525	A8K594;Q9P0V3	.;SH3B4_HUMAN	R	525	ENSP00000375867:G525R;ENSP00000386862:G525R;ENSP00000340237:G525R	ENSP00000340237:G525R	G	+	1	0	SH3BP4	235615725	1.000000	0.71417	0.997000	0.53966	0.268000	0.26511	9.453000	0.97619	2.291000	0.77112	0.591000	0.81541	GGG		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			8	42	0	0	0	1	0	8	42					A	235950986	G	A	235950986	3	1	61	1	0	0	0	0	1	0	0	0	14246	1232	43	3	1579	3	SH3BP4	2	235950986	Missense_Mutation	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	86723009	235950986	7248387	13	1163										
MCC	4163	broad.mit.edu	37	chr5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgctgctgccgctgccgcCgccgccgccgccgctgctgg	15	20	0	0	rs199741976		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						ENST00000408903.3																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		mutated in colorectal cancers							5	7	7					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	473	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		3	10	0	0	0	1	0	3	10					T	112824054	C	T	112824054	3	4	61	1	0	0	0	0	1	0	0	0	9373	652	23	2	3138	2	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		112824054	68091206	14	1164										
ADAM2	2515	broad.mit.edu	37	chr8	39613293	39613293	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttttatccacatcttttggCtgtctgcatgatcactggca	7	11	3	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr8:39613293C>A	ENST00000265708.4	-	16	1854	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	ADAM2_ENST00000379853.2_Missense_Mutation_p.S428I|ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	584	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATCTTTTGGCTGTCTGCATG	0.348																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1750-1752)aGc>aTc		ADAM metallopeptidase domain 2							95	91	93					8																	39613293		2202	4300	6502	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613293C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1751G>T	8.37:g.39613293C>A	ENSP00000265708:p.Ser584Ile					ADAM2_ENST00000347580.4_Missense_Mutation_p.S565I|ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Missense_Mutation_p.S428I	p.S584I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1854	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	584			Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1751G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947987	0.18356	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708	T;T;T	0.23552	1.9;4.31;1.9	4.67	-2.03	0.07365	ADAM, cysteine-rich (2);	.	.	.	.	T	0.24812	0.0602	M	0.73598	2.24	0.09310	N	1	P;B;B	0.34462	0.454;0.089;0.108	B;B;B	0.38562	0.276;0.098;0.222	T	0.33727	-0.9857	8	.	.	.	.	0.9279	0.01328	0.1599:0.2941:0.1563:0.3897	.	428;565;584	Q6P2G0;Q99965-2;Q99965	.;.;ADAM2_HUMAN	I	565;428;584	ENSP00000343854:S565I;ENSP00000369182:S428I;ENSP00000265708:S584I	.	S	-	2	0	ADAM2	39732450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.573000	0.00426	-0.090000	0.12462	-0.136000	0.14681	AGC		0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		9	66	1	0	0.0477658	1	0.0477658	9	66					A	39613293	C	A	39613293	3	1	61	1	0	0	0	0	1	0	0	0	241	797	28	5	476	5	ADAM2	8	39613293	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		39613293	106750729	15	1165										
NOL6	65083	broad.mit.edu	37	chr9	33466940	33466940	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttggataagtgcatccagGgggccccccacatagtggac	12	13	0	0			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr9:33466940G>C	ENST00000379471.2	-	15	2007	c.1920C>G	c.(1918-1920)ccC>ccG	p.P640P	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.P588P			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	640					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTGCATCCAGGGGGCCCCCCA	0.517											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1918-1920)ccC>ccG		nucleolar protein 6 (RNA-associated)							204	224	217					9																	33466940		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33466940G>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1920C>G	9.37:g.33466940G>C			OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	NOL6_ENST00000455041.2_Silent_p.P588P|NOL6_ENST00000464829.1_Intron	p.P640P			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	15	2007	-			640					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1920C>G																																																																																					0.517	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		5	238	0	0	0	1	0	5	238					C	33466940	G	C	33466940	2	2	61	1	0	0	0	0	0	0	0	1	10525	1219	43	5		5	NOL6	9	33466940	Silent	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08		33466940	107746491	16	1166										
IRF7	3665	broad.mit.edu	37	chr11	613833	613833	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	gggtgacaggtacggctctgCctggtgcggggactctgggg							TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr11:613833delC	ENST00000397574.2	-	8	1168	c.799delG	c.(799-801)gcafs	p.A267fs	IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Frame_Shift_Del_p.A238fs|IRF7_ENST00000397566.1_Frame_Shift_Del_p.A280fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.A280fs|IRF7_ENST00000397570.1_Frame_Shift_Del_p.A238fs|IRF7_ENST00000525445.1_Frame_Shift_Del_p.A161fs	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	267					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACGGCTCTGCCTGGTGCGGG	0.697																																						ENST00000397566.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(838-840)cafs		interferon regulatory factor 7							22	24	23					11																	613833		2186	4291	6477	SO:0001589	frameshift_variant	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613833delC	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.799delG	11.37:g.613833delC	ENSP00000380704:p.Ala267fs					IRF7_ENST00000525445.1_Frame_Shift_Del_p.A161fs|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Frame_Shift_Del_p.A238fs|IRF7_ENST00000397574.2_Frame_Shift_Del_p.A267fs|IRF7_ENST00000348655.6_Frame_Shift_Del_p.A238fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.A280fs	p.A280fs	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	1247	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	267					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Frame_Shift_Del	DEL	ENST00000397574.2	37	c.838delG	CCDS7703.1																																																																																				0.697	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		2	4						2	4	---	---	---	---	-	613833	C	-	613833	7	5	61	1	0	1	0	1	0	0	0	0	7835	739	26	0	728	0	IRF7	11	613833	Frame_Shift_Del	DEL	C	TCGA-QT-A5XO-01A-11D-A35D-08		613833	134392683	17	1167										
PGR	5241	broad.mit.edu	37	chr11	100912716	100912716	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttttgtaagttgatagaaaCgctgtgagctcgacacaact	10	7	0	3			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr11:100912716C>T	ENST00000325455.5	-	7	4059	c.2606G>A	c.(2605-2607)cGt>cAt	p.R869H	PGR_ENST00000263463.5_Missense_Mutation_p.R767H|PGR_ENST00000534013.1_Missense_Mutation_p.R275H	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	869	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGATAGAAACGCTGTGAGCT	0.368																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2605-2607)cGt>cAt		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						93	87	89					11																	100912716		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100912716C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2606G>A	11.37:g.100912716C>T	ENSP00000325120:p.Arg869His					PGR_ENST00000534013.1_Missense_Mutation_p.R275H|PGR_ENST00000263463.5_Missense_Mutation_p.R767H	p.R869H	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	7	4059	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	869			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2606G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084326	0.94100	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	D;D;D	0.98937	-5.25;-5.25;-5.25	5.34	5.34	0.76211	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.118979	0.56097	D	0.000025	D	0.99275	0.9747	M	0.88450	2.955	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99267	1.0892	10	0.59425	D	0.04	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	767;869;250	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	H	869;275;767	ENSP00000325120:R869H;ENSP00000436561:R275H;ENSP00000263463:R767H	ENSP00000263463:R767H	R	-	2	0	PGR	100417926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.584000	0.67490	2.501000	0.84356	0.585000	0.79938	CGT		0.368	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			9	15	0	0	0	1	0	9	15					T	100912716	C	T	100912716	3	4	61	1	0	0	0	0	1	0	0	0	11805	536	19	1	203	1	PGR	11	100912716	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08	100298883	100912716	34093800	18	1168										
PDE1B	5153	broad.mit.edu	37	chr12	54966508	54966508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agacagtccattgcttcttgCtccgcacagggatggtggta	12	10	1	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr12:54966508C>T	ENST00000243052.3	+	7	1154	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.L199F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	240	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTGCTTCTTGCTCCGCACAGG	0.517																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(718-720)Ctc>Ttc		phosphodiesterase 1B, calmodulin-dependent							275	253	260					12																	54966508		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54966508C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.718C>T	12.37:g.54966508C>T	ENSP00000243052:p.Leu240Phe					PDE1B_ENST00000538346.1_Missense_Mutation_p.L199F|PDE1B_ENST00000550620.1_Missense_Mutation_p.L220F|PDE1B_ENST00000394277.3_3'UTR	p.L240F	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			7	1154	+			240			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.718C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269406	0.40095	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.81821	-1.54;-1.54;-1.54	4.98	4.09	0.47781	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.64402	D	0.000002	T	0.74772	0.3760	L	0.28649	0.875	0.49483	D	0.99979	B;B	0.32128	0.2;0.357	B;P	0.44921	0.211;0.464	T	0.66480	-0.5913	10	0.10902	T	0.67	.	11.4578	0.50191	0.0:0.9126:0.0:0.0874	.	220;240	Q01064-2;Q01064	.;PDE1B_HUMAN	F	240;199;220	ENSP00000243052:L240F;ENSP00000442559:L199F;ENSP00000448519:L220F	ENSP00000243052:L240F	L	+	1	0	PDE1B	53252775	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.430000	0.44766	1.478000	0.48253	0.655000	0.94253	CTC		0.517	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			6	150	0	0	0	1	0	6	150					T	54966508	C	T	54966508	3	4	61	1	0	0	0	0	1	0	0	0	11634	797	28	3	797	3	PDE1B	12	54966508	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		54966508	78885387	19	1169										
SACS	26278	broad.mit.edu	37	chr13	23906391	23906391	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaactactctcttaactgtaCgcatttcattaggatctaat	4	9	3	0			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr13:23906391C>A	ENST00000382292.3	-	9	11897	c.11624G>T	c.(11623-11625)cGt>cTt	p.R3875L	SACS_ENST00000382298.3_Missense_Mutation_p.R3875L|SACS_ENST00000402364.1_Missense_Mutation_p.R3125L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3875					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTAACTGTACGCATTTCATT	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(11623-11625)cGt>cTt		spastic ataxia of Charlevoix-Saguenay (sacsin)							140	138	139					13																	23906391		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906391C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11624G>T	13.37:g.23906391C>A	ENSP00000371729:p.Arg3875Leu					SACS_ENST00000402364.1_Missense_Mutation_p.R3125L|SACS_ENST00000382292.3_Missense_Mutation_p.R3875L	p.R3875L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12212	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3875					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.11624G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598543	0.87055	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88664	-2.26;-2.41;-2.26	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.46157	1.445	0.53688	D	0.99997	D	0.89917	1.0	D	0.81914	0.995	D	0.91694	0.5368	10	0.44086	T	0.13	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	3875	Q9NZJ4	SACS_HUMAN	L	3875;3125;3875	ENSP00000371729:R3875L;ENSP00000385844:R3125L;ENSP00000371735:R3875L	ENSP00000371729:R3875L	R	-	2	0	SACS	22804391	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	CGT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		21	107	1	0	3.62473e-10	1	3.97551e-10	21	107					A	23906391	C	A	23906391	3	1	61	1	0	0	0	0	1	0	0	0	13804	536	19	5	2119	5	SACS	13	23906391	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		23906391	91263487	20	1170										
ALKBH1	8846	broad.mit.edu	37	chr14	78174291	78174291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtttccgaaaggcgtcctcCccgggctcagtcgccagagt	12	14	1	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr14:78174291C>T	ENST00000216489.3	-	1	72	c.57G>A	c.(55-57)ggG>ggA	p.G19G	SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000238688.5_5'Flank|SLIRP_ENST00000557342.1_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	19					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AGGCGTCCTCCCCGGGCTCAG	0.652																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(55-57)ggG>ggA		alkB, alkylation repair homolog 1 (E. coli)							30	34	33					14																	78174291		2200	4295	6495	SO:0001819	synonymous_variant	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78174291C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"Alkylation repair homologs"	17911	protein-coding gene	gene with protein product		605345	"alkB, alkylation repair homolog (E. coli)"	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.57G>A	14.37:g.78174291C>T							p.G19G	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	1	72	-			19					Q8TAU1|Q9ULA7	Silent	SNP	ENST00000216489.3	37	c.57G>A	CCDS32127.1																																																																																				0.652	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		6	42	0	0	0	1	0	6	42					T	78174291	C	T	78174291	2	4	61	1	0	0	0	0	0	0	0	1	526	610	22	3		3	ALKBH1	14	78174291	Silent	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		78174291	29175249	21	1171										
HSP90AA1	3320	broad.mit.edu	37	chr14	102552237	102552237	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaccgaactggccaatcatAgagatatctgcaccagcctg	8	13	2	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr14:102552237A>T	ENST00000216281.8	-	3	592	c.387T>A	c.(385-387)tcT>tcA	p.S129S	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000334701.7_Silent_p.S251S	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	129					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GGCCAATCATAGAGATATCTG	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(751-753)tcT>tcA		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						70	68	69					14																	102552237		2203	4300	6503	SO:0001819	synonymous_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102552237A>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.387T>A	14.37:g.102552237A>T						HSP90AA1_ENST00000216281.8_Silent_p.S129S|HSP90AA1_ENST00000441629.2_Intron	p.S251S	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			4	1034	-			129					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Silent	SNP	ENST00000216281.8	37	c.753T>A	CCDS9967.1																																																																																				0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		39	50	0	0	0	1	0	39	50					T	102552237	A	T	102552237	2	4	61	1	0	0	0	0	0	0	0	1	7401	407	15	5		5	HSP90AA1	14	102552237	Silent	SNP	A	TCGA-QT-A5XO-01A-11D-A35D-08	24377946	102552237	4797303	22	1172										
FLII	2314	broad.mit.edu	37	chr17	18150576	18150576	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	tcggcgtcgcgtttcaccttCccggagagacccgggctctg	13	15	2	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr17:18150576C>G	ENST00000327031.4	-	21	2808	c.2583G>C	c.(2581-2583)ggG>ggC	p.G861G	FLII_ENST00000579294.1_Silent_p.G850G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G|FLII_ENST00000545457.2_Silent_p.G806G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	861					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTTTCACCTTCCCGGAGAGAC	0.622																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2581-2583)ggG>ggC		flightless I homolog (Drosophila)							70	71	71					17																	18150576		2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150576C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2583G>C	17.37:g.18150576C>G						FLII_ENST00000545457.2_Silent_p.G806G|FLII_ENST00000579294.1_Silent_p.G850G|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Silent_p.G775G	p.G861G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			21	2808	-	all_neural(463;0.228)		861					B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.2583G>C	CCDS11192.1																																																																																				0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		12	30	0	0	0	1	0	12	30					G	18150576	C	G	18150576	2	3	61	1	0	0	0	0	0	0	0	1	5925	842	30	5		5	FLII	17	18150576	Silent	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		18150576	63044634	23	1173										
ANKFN1	162282	broad.mit.edu	37	chr17	54452061	54452061	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagcgtcaatgcagctgtagTaaccaggtataaaggtactg	11	7	1	0			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr17:54452061T>C	ENST00000318698.2	+	7	940	c.905T>C	c.(904-906)gTa>gCa	p.V302A	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V302A	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	302	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCAGCTGTAGTAACCAGGTAT	0.448																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(904-906)gTa>gCa		ankyrin-repeat and fibronectin type III domain containing 1							164	145	152					17																	54452061		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54452061T>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.905T>C	17.37:g.54452061T>C	ENSP00000321627:p.Val302Ala					ANKFN1_ENST00000318698.2_Missense_Mutation_p.V302A	p.V302A			Q8N957	ANKF1_HUMAN			7	905	+			302			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.905T>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767827	0.31320	.	.	ENSG00000153930	ENST00000318698	T	0.59083	0.29	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056135	0.64402	D	0.000001	T	0.72153	0.3425	M	0.78637	2.42	0.54753	D	0.999981	D	0.63046	0.992	P	0.61328	0.887	T	0.69756	-0.5059	10	0.16896	T	0.51	-12.1664	15.9214	0.79580	0.0:0.0:0.0:1.0	.	302	Q8N957	ANKF1_HUMAN	A	302	ENSP00000321627:V302A	ENSP00000321627:V302A	V	+	2	0	ANKFN1	51807060	1.000000	0.71417	0.977000	0.42913	0.882000	0.50991	7.434000	0.80377	2.228000	0.72767	0.523000	0.50628	GTA		0.448	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		19	46	0	0	0	1	0	19	46					C	54452061	T	C	54452061	3	2	61	1	0	0	0	0	1	0	0	0	625	1638	57	4	931	4	ANKFN1	17	54452061	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	36301485	54452061	26743149	24	1174										
MUC16	94025	broad.mit.edu	37	chr19	9087339	9087339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agttcatgagaaggtgtggaCataggtggaaaaatagcaaa	13	3	1	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr19:9087339C>T	ENST00000397910.4	-	1	4679	c.4476G>A	c.(4474-4476)atG>atA	p.M1492I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1492	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTGTGGACATAGGTGGAA	0.423																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(4474-4476)atG>atA		mucin 16, cell surface associated							219	206	210					19																	9087339		1937	4138	6075	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087339C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4476G>A	19.37:g.9087339C>T	ENSP00000381008:p.Met1492Ile						p.M1492I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4679	-			1492			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4476G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.718	0.913626	0.17907	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	0.821	0.821	0.18799	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	B	0.17268	0.021	B	0.08055	0.003	T	0.36578	-0.9742	8	0.87932	D	0	.	4.9522	0.14021	0.0:1.0:0.0:0.0	.	1492	B5ME49	.	I	1492	ENSP00000381008:M1492I	ENSP00000381008:M1492I	M	-	3	0	MUC16	8948339	0.000000	0.05858	0.012000	0.15200	0.843000	0.47879	-0.298000	0.08265	0.724000	0.32296	0.313000	0.20887	ATG		0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		50	65	0	0	0	1	0	50	65					T	9087339	C	T	9087339	3	4	61	1	0	0	0	0	1	0	0	0	9973	478	17	3	39383	3	MUC16	19	9087339	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		9087339	50041644	25	1175										
CYP2A7	1549	broad.mit.edu	37	chr19	41387998	41387998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtagtttccaatgaagggcaGtggggtgggtcccggaggca	18	7	0	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chr19:41387998G>A	ENST00000301146.4	-	1	659	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	40						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGAAGGGCAGTGGGGTGGGT	0.587																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(118-120)Ctg>Ttg		cytochrome P450, family 2, subfamily A, polypeptide 7							91	73	79					19																	41387998		2203	4300	6503	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41387998G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.118C>T	19.37:g.41387998G>A						CYP2A7_ENST00000291764.3_Silent_p.L40L|CTC-490E21.12_ENST00000601627.1_Intron	p.L40L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	659	-			40					Q13121	Silent	SNP	ENST00000301146.4	37	c.118C>T	CCDS12569.1																																																																																				0.587	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		3	41	0	0	0	1	0	3	41					A	41387998	G	A	41387998	2	1	61	1	0	0	0	0	0	0	0	1	4163	1020	36	3		3	CYP2A7	19	41387998	Silent	SNP	G	TCGA-QT-A5XO-01A-11D-A35D-08	32300659	41387998	17740985	26	1176										
FRMPD4	9758	broad.mit.edu	37	chrX	12735860	12735860	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagtcctcgcacgccctggCtgctaggccagcaaccgacc	10	17	0	0	rs372874844		TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chrX:12735860C>G	ENST00000380682.1	+	16	3421	c.2915C>G	c.(2914-2916)gCt>gGt	p.A972G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	972					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CACGCCCTGGCTGCTAGGCCA	0.597																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2914-2916)gCt>gGt		FERM and PDZ domain containing 4							58	59	59					X																	12735860		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735860C>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2915C>G	X.37:g.12735860C>G	ENSP00000370057:p.Ala972Gly						p.A972G	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3421	+			972					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2915C>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707649	0.15239	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.06768	3.26	5.47	5.47	0.80525	.	0.344938	0.31697	N	0.007215	T	0.10208	0.0250	M	0.63428	1.95	0.22581	N	0.998964	B;B	0.16166	0.016;0.007	B;B	0.09377	0.004;0.003	T	0.22487	-1.0215	10	0.19147	T	0.46	-6.8391	11.5846	0.50910	0.0:0.9154:0.0:0.0846	.	964;972	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	G	972;963;961	ENSP00000370057:A972G	ENSP00000304583:A961G	A	+	2	0	FRMPD4	12645781	0.575000	0.26692	0.219000	0.23793	0.376000	0.30014	1.749000	0.38319	2.293000	0.77203	0.513000	0.50165	GCT		0.597	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		5	78	0	0	0	1	0	5	78					G	12735860	C	G	12735860	3	3	61	1	0	0	0	0	1	0	0	0	6059	797	28	5	2977	5	FRMPD4	23	12735860	Missense_Mutation	SNP	C	TCGA-QT-A5XO-01A-11D-A35D-08		12735860	142534700	27	1177										
ODZ1	10178	broad.mit.edu	37	chrX	123518383	123518383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcggcccacattatcatatTgaatggtcatccagtaggca	9	10	2	1			TCGA-QT-A5XO-01A-11D-A35D-08	TCGA-QT-A5XO-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3410bf2-6b6b-4c73-9e6e-25594f40267f	e1babb7b-cefd-4f13-a63b-b487cac31a74	g.chrX:123518383T>C	ENST00000371130.3	-	29	6440	c.6377A>G	c.(6376-6378)cAa>cGa	p.Q2126R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.Q2133R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2126					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATTATCATATTGAATGGTCAT	0.398																																						ENST00000422452.2																			0											c.(6397-6399)cAa>cGa		teneurin transmembrane protein 1							199	166	177					X																	123518383		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518383T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6377A>G	X.37:g.123518383T>C	ENSP00000360171:p.Gln2126Arg					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q2126R	p.Q2133R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6461	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6398A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348330	0.61183	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86230	-2.09;-2.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	M	0.65975	2.015	0.80722	D	1	D;P;P	0.60160	0.987;0.473;0.852	D;B;B	0.67725	0.953;0.1;0.286	D	0.92096	0.5684	10	0.51188	T	0.08	.	14.5617	0.68144	0.0:0.0:0.0:1.0	.	2132;2133;2126	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2126;2133	ENSP00000360171:Q2126R;ENSP00000403954:Q2133R	ENSP00000360171:Q2126R	Q	-	2	0	ODZ1	123346064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.819000	0.53055	0.441000	0.28932	CAA		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	117	0	0	0	1	0	4	117					C	123518383	T	C	123518383	3	2	61	1	0	0	0	0	1	0	0	0	10834	1812	63	4	1812	4	ODZ1	23	123518383	Missense_Mutation	SNP	T	TCGA-QT-A5XO-01A-11D-A35D-08	110782523	123518383	31752177	28	1178										
UBA7	7318	broad.mit.edu	37	chr3	49848257	49848257	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaatttgcccatcatagcgGctgcctctctaggggacaga	11	12	2	1			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr3:49848257G>A	ENST00000333486.3	-	11	1397	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	413	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATCATAGCGGCTGCCTCTCT	0.557																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1237-1239)agC>agT		ubiquitin-like modifier activating enzyme 7							70	75	73					3																	49848257		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49848257G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"Ubiquitin-like modifier activating enzymes"	12471	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"	191325	"ubiquitin-activating enzyme E1-like"	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1239C>T	3.37:g.49848257G>A							p.S413S	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	1397	-			413			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1239C>T	CCDS2805.1																																																																																				0.557	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		3	45	0	0	0	1	0	3	45					A	49848257	G	A	49848257	2	1	62	1	0	0	0	0	0	0	0	1	16830	1194	42	3		3	UBA7	3	49848257	Silent	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		49848257	148174173	1	1179										
ARHGAP10	79658	broad.mit.edu	37	chr4	148787930	148787930	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaacttgccaaagacttcaAtcactacaaaatggaactac	5	10	2	2	rs145720035		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr4:148787930A>G	ENST00000336498.3	+	7	904	c.665A>G	c.(664-666)aAt>aGt	p.N222S		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAAGACTTCAATCACTACAAA	0.343											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(664-666)aAt>aGt		Rho GTPase activating protein 10							118	111	113					4																	148787930		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148787930A>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.665A>G	4.37:g.148787930A>G	ENSP00000336923:p.Asn222Ser		OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1720		p.N222S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	7	904	+	all_hematologic(180;0.151)	Renal(17;0.0166)	222			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.665A>G	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	7.380	0.628645	0.14257	.	.	ENSG00000071205	ENST00000336498	T	0.03920	3.76	6.17	5.0	0.66597	.	0.238952	0.49305	D	0.000142	T	0.02230	0.0069	N	0.04203	-0.255	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.44651	-0.9314	10	0.08837	T	0.75	.	9.0259	0.36230	0.8591:0.0:0.1409:0.0	.	222	A1A4S6	RHG10_HUMAN	S	222	ENSP00000336923:N222S	ENSP00000336923:N222S	N	+	2	0	ARHGAP10	149007380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.210000	0.51129	1.165000	0.42670	0.533000	0.62120	AAT		0.343	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	43	0	0	0	1	0	4	43					G	148787930	A	G	148787930	3	3	62	1	0	0	0	0	1	0	0	0	862	101	4	4	691	4	ARHGAP10	4	148787930	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08		148787930	42366346	2	1180										
TRIO	7204	broad.mit.edu	37	chr5	14287075	14287075	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgaagatcctgcaggagtCcttcccctgctgcatccatg	9	14	1	2			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr5:14287075C>G	ENST00000344204.4	+	4	467	c.443C>G	c.(442-444)tCc>tGc	p.S148C	TRIO_ENST00000537187.1_Missense_Mutation_p.S148C|TRIO_ENST00000509967.2_Missense_Mutation_p.S99C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	148	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGCAGGAGTCCTTCCCCTGC	0.522																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(442-444)tCc>tGc		trio Rho guanine nucleotide exchange factor							102	97	98					5																	14287075		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14287075C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.443C>G	5.37:g.14287075C>G	ENSP00000339299:p.Ser148Cys					TRIO_ENST00000509967.2_Missense_Mutation_p.S99C|TRIO_ENST00000537187.1_Missense_Mutation_p.S148C	p.S148C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			4	467	+	Lung NSC(4;0.000742)		148			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.443C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558245	0.65538	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	D;D;D	0.84516	-1.86;-1.86;-1.86	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	L	0.28649	0.875	0.80722	D	1	B;D	0.76494	0.03;0.999	B;D	0.85130	0.037;0.997	D	0.87496	0.2430	10	0.37606	T	0.19	.	19.7123	0.96100	0.0:1.0:0.0:0.0	.	99;148	F5H228;O75962	.;TRIO_HUMAN	C	148;148;99	ENSP00000339299:S148C;ENSP00000446348:S148C;ENSP00000445592:S99C	ENSP00000339299:S148C	S	+	2	0	TRIO	14340075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.664000	0.90586	0.650000	0.86243	TCC		0.522	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		20	46	0	0	0	1	0	20	46					G	14287075	C	G	14287075	3	3	62	1	0	0	0	0	1	0	0	0	16549	855	30	5	457	5	TRIO	5	14287075	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		14287075	166628185	3	1181										
PLEKHG1	57480	broad.mit.edu	37	chr6	151161960	151161960	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatctttggagggggccatcTcccaatcaacaaaatattgt	8	9	3	0			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr6:151161960T>A	ENST00000358517.2	+	16	4297	c.4086T>A	c.(4084-4086)tcT>tcA	p.S1362S	PLEKHG1_ENST00000367328.1_Silent_p.S1362S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1362							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGGGCCATCTCCCAATCAAC	0.393																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(4084-4086)tcT>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							82	83	83					6																	151161960		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161960T>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4086T>A	6.37:g.151161960T>A						PLEKHG1_ENST00000358517.2_Silent_p.S1362S	p.S1362S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4398	+			1362					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.4086T>A	CCDS34552.1																																																																																				0.393	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			24	53	0	0	0	1	0	24	53					A	151161960	T	A	151161960	2	1	62	1	0	0	0	0	0	0	0	1	12068	1538	54	5		5	PLEKHG1	6	151161960	Silent	SNP	T	TCGA-QT-A5XP-01A-11D-A35D-08		151161960	19953107	4	1182										
MATN2	4147	broad.mit.edu	37	chr8	98943421	98943421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgtgctgtcaagaggatgcGgcatctgtccacgggcacca	14	12	2	1			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr8:98943421G>A	ENST00000520016.1	+	2	507	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	MATN2_ENST00000521689.1_Missense_Mutation_p.R128Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000254898.5_Missense_Mutation_p.R128Q			O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAGAGGATGCGGCATCTGTCC	0.587																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(382-384)cGg>cAg		matrilin 2							54	59	57					8																	98943421		2129	4252	6381	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943421G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.383G>A	8.37:g.98943421G>A	ENSP00000430487:p.Arg128Gln					MATN2_ENST00000521689.1_Missense_Mutation_p.R128Q|MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R128Q	p.R128Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	614	+	Breast(36;1.43e-06)		128			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.383G>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696510	0.48202	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.97	4.03	0.46877	von Willebrand factor, type A (3);	0.081678	0.51477	D	0.000095	T	0.55321	0.1913	N	0.02721	-0.515	0.27765	N	0.943701	P;P;D;P	0.58620	0.946;0.933;0.983;0.938	P;P;P;B	0.48921	0.584;0.551;0.595;0.345	T	0.50294	-0.8845	10	0.16420	T	0.52	-22.3411	7.0398	0.25013	0.0874:0.0:0.5924:0.3202	.	128;128;128;128	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	Q	128	ENSP00000429977:R128Q;ENSP00000254898:R128Q;ENSP00000430221:R128Q;ENSP00000430487:R128Q	ENSP00000254898:R128Q	R	+	2	0	MATN2	99012597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.998000	0.40796	2.836000	0.97738	0.655000	0.94253	CGG		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			3	22	0	0	0	1	0	3	22					A	98943421	G	A	98943421	3	1	62	1	0	0	0	0	1	0	0	0	9334	1116	39	2	389	2	MATN2	8	98943421	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		98943421	47420601	5	1183										
TJP2	9414	broad.mit.edu	37	chr9	71836075	71836075	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	cggagcctggagcggggcctGgaccaagaccatgcgcgcac							TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr9:71836075delG	ENST00000377245.4	+	5	823	c.615delG	c.(613-615)ctgfs	p.L205fs	TJP2_ENST00000453658.2_Frame_Shift_Del_p.L182fs|TJP2_ENST00000265384.7_Frame_Shift_Del_p.L205fs|TJP2_ENST00000535702.1_Frame_Shift_Del_p.L209fs|TJP2_ENST00000348208.4_Frame_Shift_Del_p.L205fs|TJP2_ENST00000539225.1_Frame_Shift_Del_p.L236fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	205					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGCGGGGCCTGGACCAAGACC	0.756																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(613-615)ctfs		tight junction protein 2							7	13	11					9																	71836075		2094	4125	6219	SO:0001589	frameshift_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71836075delG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2"	607709	"deafness, autosomal dominant 51"	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.615delG	9.37:g.71836075delG	ENSP00000366453:p.Leu205fs					TJP2_ENST00000348208.4_Frame_Shift_Del_p.L205fs|TJP2_ENST00000453658.2_Frame_Shift_Del_p.L182fs|TJP2_ENST00000539225.1_Frame_Shift_Del_p.L236fs|TJP2_ENST00000535702.1_Frame_Shift_Del_p.L209fs|TJP2_ENST00000265384.7_Frame_Shift_Del_p.L205fs	p.L205fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			5	823	+			205					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Frame_Shift_Del	DEL	ENST00000377245.4	37	c.615delG	CCDS6627.1																																																																																				0.756	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		2	4						2	4	---	---	---	---	-	71836075	G	-	71836075	7	5	62	1	0	1	0	1	0	0	0	0	15927	1335	47	0	790	0	TJP2	9	71836075	Frame_Shift_Del	DEL	G	TCGA-QT-A5XP-01A-11D-A35D-08		71836075	69377356	6	1184										
ATM	472	broad.mit.edu	37	chr11	108173735	108173735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaaatgtgaaattcttcaAttattaaagccaatgtgtga	6	5	2	2			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr11:108173735A>G	ENST00000452508.2	+	37	5664	c.5475A>G	c.(5473-5475)caA>caG	p.Q1825Q	ATM_ENST00000278616.4_Silent_p.Q1825Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1825					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAATTCTTCAATTATTAAAGC	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5473-5475)caA>caG	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							106	110	109					11																	108173735		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108173735A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5475A>G	11.37:g.108173735A>G		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.Q1825Q	p.Q1825Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	36	5860	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1825					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.5475A>G	CCDS31669.1																																																																																				0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	60	0	0	0	1	0	6	60					G	108173735	A	G	108173735	2	3	62	1	0	0	0	0	0	0	0	1	1109	98	4	4		4	ATM	11	108173735	Silent	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08		108173735	26832781	7	1185										
TPI1	7167	broad.mit.edu	37	chr12	6976729	6976729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcagcgcctcggctccagcgCcatggcgccctccaggaagt	12	17	1	0			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr12:6976729C>T	ENST00000229270.4	+	1	447	c.110C>T	c.(109-111)gCc>gTc	p.A37V	TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	37					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGCTCCAGCGCCATGGCGCCC	0.642																																						ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(109-111)gCc>gTc		triosephosphate isomerase 1							13	17	15					12																	6976729		2197	4298	6495	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6976729C>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.110C>T	12.37:g.6976729C>T	ENSP00000229270:p.Ala37Val					TPI1_ENST00000396705.5_5'UTR	p.A37V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			1	447	+			0					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.110C>T	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347273	0.41599	.	.	ENSG00000111669	ENST00000229270	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.41328	0.1154	N	0.12569	0.235	0.80722	D	1	.	.	.	.	.	.	T	0.35943	-0.9768	6	0.35671	T	0.21	.	11.8356	0.52321	0.0:0.9187:0.0:0.0813	.	.	.	.	V	37	.	ENSP00000229270:A37V	A	+	2	0	TPI1	6846990	0.001000	0.12720	0.154000	0.22540	0.090000	0.18270	1.297000	0.33400	2.415000	0.81967	0.542000	0.68232	GCC		0.642	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		4	9	0	0	0	1	0	4	9					T	6976729	C	T	6976729	3	4	62	1	0	0	0	0	1	0	0	0	16400	739	26	3	112	3	TPI1	12	6976729	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		6976729	126875166	8	1186										
ATP12A	479	broad.mit.edu	37	chr13	25268673	25268673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaattagaaaaagaaaccGcaaagtagctgaaatccctt	8	7	0	3			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:25268673G>A	ENST00000381946.3	+	11	1636	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R496H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	490					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R490H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAAAGAAACCGCAAAGTAGCT	0.393											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R490H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1486-1488)cGc>cAc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						120	129	126					13																	25268673		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25268673G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1469G>A	13.37:g.25268673G>A	ENSP00000371372:p.Arg490His		OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000381946.3_Missense_Mutation_p.R490H	p.R496H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	11	1820	+		Lung SC(185;0.0225)|Breast(139;0.077)	490					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1487G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049971	0.36181	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79749	-1.3;-1.3	5.55	-1.36	0.09085	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.667409	0.13957	N	0.351123	T	0.63058	0.2479	N	0.22421	0.69	0.09310	N	0.999993	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.003	T	0.50101	-0.8867	10	0.46703	T	0.11	.	5.3183	0.15868	0.4498:0.2646:0.2855:0.0	.	496;490	P54707-2;P54707	.;AT12A_HUMAN	H	496;490	ENSP00000218548:R496H;ENSP00000371372:R490H	ENSP00000218548:R496H	R	+	2	0	ATP12A	24166673	0.000000	0.05858	0.989000	0.46669	0.995000	0.86356	-0.464000	0.06688	-0.285000	0.09089	0.563000	0.77884	CGC		0.393	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		4	72	0	0	0	1	0	4	72					A	25268673	G	A	25268673	3	1	62	1	0	0	0	0	1	0	0	0	1122	1087	38	1	1529	1	ATP12A	13	25268673	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		25268673	89901205	9	1187										
PAN3	255967	broad.mit.edu	37	chr13	28854620	28854620	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgattggtgctcgattttAtactcaattggatgctgctc	9	8	1	1			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:28854620A>T	ENST00000380958.3	+	16	2413	c.2261A>T	c.(2260-2262)tAt>tTt	p.Y754F	PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F|PAN3_ENST00000399613.1_Missense_Mutation_p.Y554F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTCGATTTTATACTCAATTG	0.343																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1660-1662)tAt>tTt		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							124	107	113					13																	28854620		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28854620A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2261A>T	13.37:g.28854620A>T	ENSP00000370345:p.Tyr754Phe					PAN3_ENST00000380958.3_Missense_Mutation_p.Y754F|PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F	p.Y554F			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	15	1724	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	754			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1661A>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329693	0.81690	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42513	0.97;0.97;0.97	5.37	5.37	0.77165	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.39566	1.225	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.83275	0.995;0.99;0.996	T	0.42224	-0.9464	10	0.11794	T	0.64	-13.6789	15.6713	0.77279	1.0:0.0:0.0:0.0	.	754;442;700	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	F	754;554;442	ENSP00000370345:Y754F;ENSP00000382522:Y554F;ENSP00000282391:Y442F	ENSP00000282391:Y442F	Y	+	2	0	PAN3	27752620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.166000	0.68216	0.459000	0.35465	TAT		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		4	84	0	0	0	1	0	4	84					T	28854620	A	T	28854620	3	4	62	1	0	0	0	0	1	0	0	0	11415	449	16	5	2323	5	PAN3	13	28854620	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08	3585947	28854620	86315258	10	1188										
POSTN	10631	broad.mit.edu	37	chr13	38160280	38160280	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagacattaaactaccttcGgaagccactttgtctcccat	6	12	1	1			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:38160280G>T	ENST00000379747.4	-	7	1008	c.891C>A	c.(889-891)tcC>tcA	p.S297S	POSTN_ENST00000379749.4_Silent_p.S297S|POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S|POSTN_ENST00000379742.4_Silent_p.S297S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	297	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AACTACCTTCGGAAGCCACTT	0.423																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(889-891)tcC>tcA		periostin, osteoblast specific factor							88	89	89					13																	38160280		2203	4300	6503	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160280G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.891C>A	13.37:g.38160280G>T						POSTN_ENST00000379742.4_Silent_p.S297S|POSTN_ENST00000379749.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S|POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S	p.S297S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	1008	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	297			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.891C>A	CCDS9364.1																																																																																				0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		5	84	1	0	0.217242	1	0.229311	5	84					T	38160280	G	T	38160280	2	4	62	1	0	0	0	0	0	0	0	1	12259	1103	39	5		5	POSTN	13	38160280	Silent	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08	9305660	38160280	77009598	11	1189										
RCBTB2	1102	broad.mit.edu	37	chr13	49076986	49076986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcactggccccacatgtacaCgtgcccaccctgcgtcttgg	10	17	1	0	rs371439325		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:49076986C>T	ENST00000344532.3	-	11	1414	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M|RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	331					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.V331M(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACATGTACACGTGCCCACCC	0.582																																						ENST00000344532.3																			1	Substitution - Missense(1)	p.V331M(1)	endometrium(1)	breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(991-993)Gtg>Atg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2		C	MET/VAL	0,4406		0,0,2203	112	80	91		991	4	1	13		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	RCBTB2	NM_001268.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	331/552	49076986	1,13005	2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076986C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.991G>A	13.37:g.49076986C>T	ENSP00000345144:p.Val331Met					RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M	p.V331M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1414	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	331					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.991G>A	CCDS9411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.912082|4.912082	0.92178|0.92178	0.0|0.0	1.16E-4|1.16E-4	ENSG00000136161|ENSG00000136161	ENST00000544904|ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T|D;D;D	0.49720|0.85556	0.77|-1.83;-1.83;-2.0	5.73|5.73	3.97|3.97	0.46021|0.46021	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.112079	.|0.64402	.|D	.|0.000009	D|D	0.90731|0.90731	0.7091|0.7091	M|M	0.79475|0.79475	2.455|2.455	0.29447|0.29447	N|N	0.858755|0.858755	B|D;D;P;D	0.06786|0.76494	0.001|0.997;0.997;0.943;0.999	B|D;D;B;D	0.01281|0.63488	0.0|0.915;0.915;0.437;0.915	D|D	0.87201|0.87201	0.2241|0.2241	9|10	0.35671|0.59425	T|D	0.21|0.04	.|.	13.1552|13.1552	0.59514|0.59514	0.0:0.8637:0.0:0.1363|0.0:0.8637:0.0:0.1363	.|.	259|57;336;283;331	B4DPP7|B4E372;B4DWG0;B3KVB1;O95199	.|.;.;.;RCBT2_HUMAN	H|M	259|331;283;336;336;57	ENSP00000443904:R259H|ENSP00000345144:V331M;ENSP00000389910:V336M;ENSP00000443862:V57M	ENSP00000443904:R259H|ENSP00000345144:V331M	R|V	-|-	2|1	0|0	RCBTB2|RCBTB2	47974987|47974987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.619000|4.619000	0.61218|0.61218	1.553000|1.553000	0.49476|0.49476	0.557000|0.557000	0.71058|0.71058	CGT|GTG		0.582	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		4	43	0	0	0	1	0	4	43					T	49076986	C	T	49076986	3	4	62	1	0	0	0	0	1	0	0	0	13172	536	19	1	684	1	RCBTB2	13	49076986	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08	10916706	49076986	66092892	12	1190										
CCDC70	83446	broad.mit.edu	37	chr13	52440136	52440136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaacaatggccacattgccGgagagcagatgctcgaagat	12	9	0	4	rs78877659	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:52440136G>A	ENST00000242819.4	+	2	918	c.622G>A	c.(622-624)Gga>Aga	p.G208R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	208						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCACATTGCCGGAGAGCAGAT	0.607													G|||	5	0.000998403	0	0	5008	,	,		17951	0.004		0.001	False		,,,				2504	0					ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(622-624)Gga>Aga		coiled-coil domain containing 70							43	46	45					13																	52440136		2203	4299	6502	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52440136G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.622G>A	13.37:g.52440136G>A	ENSP00000242819:p.Gly208Arg						p.G208R	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	918	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	208					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.622G>A	CCDS9431.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	4.422	0.077994	0.08485	.	.	ENSG00000123171	ENST00000242819	T	0.10005	2.92	4.44	-0.537	0.11872	.	1.092780	0.07324	U	0.878043	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.17369	T	0.5	-22.8057	5.9729	0.19363	0.2673:0.1417:0.5911:0.0	.	208	Q6NSX1	CCD70_HUMAN	R	208	ENSP00000242819:G208R	ENSP00000242819:G208R	G	+	1	0	CCDC70	51338137	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.243000	0.18106	-0.248000	0.09583	-1.327000	0.01280	GGA		0.607	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		3	31	0	0	0	1	0	3	31					A	52440136	G	A	52440136	3	1	62	1	0	0	0	0	1	0	0	0	2843	1117	39	2	624	2	CCDC70	13	52440136	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08	3363150	52440136	62729742	13	1191										
OR4K2	390431	broad.mit.edu	37	chr14	20345163	20345163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtacagctcatttcattgTtgtcttcttgttctttgggc	8	8	5	0			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr14:20345163T>C	ENST00000298642.2	+	1	773	c.737T>C	c.(736-738)gTt>gCt	p.V246A		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTCATTGTTGTCTTCTTG	0.383																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(736-738)gTt>gCt		olfactory receptor, family 4, subfamily K, member 2							216	201	206					14																	20345163		2203	4299	6502	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345163T>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.737T>C	14.37:g.20345163T>C	ENSP00000298642:p.Val246Ala						p.V246A	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	773	+	all_cancers(95;0.00108)		246					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.737T>C	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621177	0.66787	.	.	ENSG00000165762	ENST00000298642	T	0.00237	8.47	5.16	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.00384	0.0012	M	0.64170	1.965	0.31894	N	0.616816	P	0.45902	0.868	P	0.59012	0.85	T	0.47302	-0.9128	10	0.87932	D	0	.	9.469	0.38831	0.1585:0.0:0.0:0.8415	.	246	Q8NGD2	OR4K2_HUMAN	A	246	ENSP00000298642:V246A	ENSP00000298642:V246A	V	+	2	0	OR4K2	19415003	0.659000	0.27411	0.998000	0.56505	0.930000	0.56654	1.494000	0.35616	0.942000	0.37525	0.482000	0.46254	GTT		0.383	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			5	112	0	0	0	1	0	5	112					C	20345163	T	C	20345163	3	2	62	1	0	0	0	0	1	0	0	0	11072	1725	60	4	739	4	OR4K2	14	20345163	Missense_Mutation	SNP	T	TCGA-QT-A5XP-01A-11D-A35D-08		20345163	87004377	14	1192										
FLJ10357	55701	broad.mit.edu	37	chr14	21542956	21542961	+	In_Frame_Del	DEL	GAGGAG	GAGGAG	-													0	0	1	0	0	0	1	1	0	cctgaggccaggggagcttaGaggaggaggaggaggaggcc					rs545146973|rs377320500	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr14:21542956_21542961delGAGGAG	ENST00000298694.4	+	3	1194_1199	c.1067_1072delGAGGAG	c.(1066-1074)agaggagga>aga	p.GG361del	ARHGEF40_ENST00000298693.3_In_Frame_Del_p.GG361del			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	361	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGGGAGCTTAGAGGAGGAGGAGGAGG	0.631														33	0.00658946	0.0234	0.0014	5008	,	,		18693	0		0.001	False		,,,				2504	0					ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1066-1074)aga>a		Rho guanine nucleotide exchange factor (GEF) 40				83,28,4151		0,0,83,0,28,2020						3.8	0.1			25	4,43,8199		0,0,4,0,43,4076	no	codingComplex	ARHGEF40	NM_018071.3		0,0,87,0,71,6096	A1A1,A1A2,A1R,A2A2,A2R,RR		0.57,2.6044,1.2632				87,71,12350				SO:0001651	inframe_deletion	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542956_21542961delGAGGAG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1067_1072delGAGGAG	14.37:g.21542962_21542967delGAGGAG	ENSP00000298694:p.Gly361_Gly362del					ARHGEF40_ENST00000298693.3_In_Frame_Del_p.RGG356del	p.RGG356del			Q8TER5	ARH40_HUMAN			3	1194_1199	+			356			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Del	DEL	ENST00000298694.4	37	c.1067_1072delGAGGAG	CCDS32041.1																																																																																				0.631	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	6						4	6	---	---	---	---	-	21542961	GAGGAG	-	21542956	7	5	62	1	0	1	0	1	0	0	0	0	5926	942	33	0	1077	0	FLJ10357	14	21542956	In_Frame_Del	DEL	GAGGAG	TCGA-QT-A5XP-01A-11D-A35D-08	1197793	21542956	85806584	15	1193										
DENND4A	10260	broad.mit.edu	37	chr15	65956953	65956953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctaaaatctgactcattgGtccatagacatcattcattt	4	10	5	2			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr15:65956953G>A	ENST00000431932.2	-	30	5543	c.5335C>T	c.(5335-5337)Cca>Tca	p.P1779S	DENND4A_ENST00000443035.3_Missense_Mutation_p.P1822S	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1779					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGACTCATTGGTCCATAGACA	0.333																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(5464-5466)Cca>Tca		DENN/MADD domain containing 4A							101	95	97					15																	65956953		1830	4082	5912	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65956953G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5335C>T	15.37:g.65956953G>A	ENSP00000396830:p.Pro1779Ser					DENND4A_ENST00000431932.2_Missense_Mutation_p.P1779S	p.P1822S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			31	5679	-			1779					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.5464C>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426282	0.83667	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.08282	3.12;3.11	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.06516	-1.0822	10	0.72032	D	0.01	.	19.4665	0.94945	0.0:0.0:1.0:0.0	.	1822;1779	E7EPL3;Q7Z401	.;MYCPP_HUMAN	S	1822;1779	ENSP00000391167:P1822S;ENSP00000396830:P1779S	ENSP00000396830:P1779S	P	-	1	0	DENND4A	63744007	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	9.230000	0.95299	2.591000	0.87537	0.555000	0.69702	CCA		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		10	22	0	0	0	1	0	10	22					A	65956953	G	A	65956953	3	1	62	1	0	0	0	0	1	0	0	0	4433	1261	44	3	268	3	DENND4A	15	65956953	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		65956953	36574439	16	1194										
GOLGA6C	653641	broad.mit.edu	37	chr15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttctccccatgacaaccccCcggtacagcagatcgtgcag	9	16	1	2	rs201864661		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)Ccg>Acg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr						p.P679T	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2035	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.2035C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	19	1	0	0.00116845	1	0.00138753	6	19					A	75562493	C	A	75562493	3	1	62	1	0	0	0	0	1	0	0	0	6559	623	22	5	2105	5	GOLGA6C	15	75562493	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08	9605540	75562493	26968899	17	1195										
ZFHX3	463	broad.mit.edu	37	chr16	72828227	72828227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggttttactcacaggtgagAgggggacaccctgaccatca	12	10	2	2			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr16:72828227A>C	ENST00000268489.5	-	9	9026	c.8354T>G	c.(8353-8355)cTc>cGc	p.L2785R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2785					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACAGGTGAGAGGGGGACACC	0.488																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8353-8355)cTc>cGc		zinc finger homeobox 3							77	80	79					16																	72828227		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828227A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8354T>G	16.37:g.72828227A>C	ENSP00000268489:p.Leu2785Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R	p.L2785R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9026	-		Ovarian(137;0.13)	2785					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8354T>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397303	0.25205	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.79	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000391	T	0.72455	0.3462	L	0.36672	1.1	0.58432	D	0.999999	D	0.54397	0.966	P	0.50440	0.641	T	0.68648	-0.5353	10	0.18710	T	0.47	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	2785	Q15911	ZFHX3_HUMAN	R	2785;1871	ENSP00000268489:L2785R;ENSP00000438926:L1871R	ENSP00000268489:L2785R	L	-	2	0	ZFHX3	71385728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.515000	0.81761	2.277000	0.76020	0.528000	0.53228	CTC		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	36	0	0	0	1	0	12	36					C	72828227	A	C	72828227	3	2	62	1	0	0	0	0	1	0	0	0	17631	304	11	5	2765	5	ZFHX3	16	72828227	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08		72828227	17526526	18	1196										
RHPN2	85415	broad.mit.edu	37	chr19	33486990	33486990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcctcctggtgctgggcGtacgtgagccgggagcgttc	15	13	0	1	rs142685730	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622													G|||	2	0.000399361	0	0.0029	5008	,	,		17949	0		0	False		,,,				2504	0					ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1360-1362)taC>taT		rhophilin, Rho GTPase binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	83	66	72		1362	0.3	0.2	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		454/687	33486990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33486990G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1362C>T	19.37:g.33486990G>A						RHPN2_ENST00000400226.4_Silent_p.Y303Y	p.Y454Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			11	1397	-	Esophageal squamous(110;0.137)		454			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1362C>T	CCDS12427.1																																																																																				0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		3	43	0	0	0	1	0	3	43					A	33486990	G	A	33486990	2	1	62	1	0	0	0	0	0	0	0	1	13351	1140	40	1		1	RHPN2	19	33486990	Silent	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		33486990	25641993	19	1197										
ZNF613	79898	broad.mit.edu	37	chr19	52447915	52447915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacacaggagagaaaccctAtgaatgcactgaatgtgaca	9	10	0	4			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr19:52447915A>G	ENST00000293471.6	+	6	1458	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAGAAACCCTATGAATGCACT	0.453																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(778-780)tAt>tGt		zinc finger protein 613							84	91	88					19																	52447915		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447915A>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.779A>G	19.37:g.52447915A>G	ENSP00000293471:p.Tyr260Cys					ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C	p.Y260C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1458	+		all_neural(266;0.117)	260					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.779A>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	9.267	1.044787	0.19748	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.25414	1.8;1.8	3.1	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30649	N	0.009163	T	0.45617	0.1351	M	0.78223	2.4	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.23691	-1.0181	10	0.87932	D	0	.	6.7455	0.23458	0.4545:0.0:0.0:0.5455	.	260	Q6PF04	ZN613_HUMAN	C	260;224	ENSP00000293471:Y260C;ENSP00000375671:Y224C	ENSP00000293471:Y260C	Y	+	2	0	ZNF613	57139727	0.000000	0.05858	0.005000	0.12908	0.475000	0.33008	0.152000	0.16302	0.382000	0.24878	0.533000	0.62120	TAT		0.453	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		4	62	0	0	0	1	0	4	62					G	52447915	A	G	52447915	3	3	62	1	0	0	0	0	1	0	0	0	18035	449	16	4	793	4	ZNF613	19	52447915	Missense_Mutation	SNP	A	TCGA-QT-A5XP-01A-11D-A35D-08	18960925	52447915	6681068	20	1198										
MC3R	4159	broad.mit.edu	37	chr20	54824371	54824371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctaccacagcatcatgaccGtgaggaaggccctcaccttg	10	14	2	2	rs371959593		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr20:54824371G>A	ENST00000243911.2	+	1	584	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	158					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATCATGACCGTGAGGAAGGC	0.587																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(472-474)Gtg>Atg		melanocortin 3 receptor		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	208	189	195		472	5.2	0	20		195	0,8600		0,0,4300	no	missense	MC3R	NM_019888.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	158/324	54824371	1,13005	2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824371G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.472G>A	20.37:g.54824371G>A	ENSP00000243911:p.Val158Met						p.V158M	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	584	+			195					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.472G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456152	0.63401	2.27E-4	0.0	ENSG00000124089	ENST00000243911	T	0.72394	-0.65	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.091941	0.41938	D	0.000788	T	0.78566	0.4303	L	0.37800	1.135	0.37660	D	0.922742	D	0.76494	0.999	D	0.69824	0.966	T	0.82354	-0.0499	10	0.62326	D	0.03	.	18.3858	0.90466	0.0:0.0:1.0:0.0	.	195	P41968	MC3R_HUMAN	M	158	ENSP00000243911:V158M	ENSP00000243911:V158M	V	+	1	0	MC3R	54257778	1.000000	0.71417	0.027000	0.17364	0.885000	0.51271	5.218000	0.65257	2.423000	0.82170	0.650000	0.86243	GTG		0.587	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			4	80	0	0	0	1	0	4	80					A	54824371	G	A	54824371	3	1	62	1	0	0	0	0	1	0	0	0	9365	1145	40	1	474	1	MC3R	20	54824371	Missense_Mutation	SNP	G	TCGA-QT-A5XP-01A-11D-A35D-08		54824371	8201149	21	1199										
RGL4	266747	broad.mit.edu	37	chr22	24034583	24034583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcagtttactatcagcccCcgcaacggtcatctttccgg	7	15	4	0			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr22:24034583C>A	ENST00000290691.5	+	2	1411	c.241C>A	c.(241-243)Ccg>Acg	p.P81T	KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	81					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTATCAGCCCCCGCAACGGTC	0.547																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(241-243)Ccg>Acg		ral guanine nucleotide dissociation stimulator-like 4							185	181	183					22																	24034583		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034583C>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.241C>A	22.37:g.24034583C>A	ENSP00000290691:p.Pro81Thr					RGL4_ENST00000401461.1_5'UTR|GUSBP11_ENST00000417194.1_RNA	p.P81T	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			2	1411	+			81					Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.241C>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	c	7.805	0.714440	0.15306	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.34275	1.37;1.37	1.92	0.882	0.19172	.	0.350746	0.20489	U	0.091322	T	0.17534	0.0421	N	0.24115	0.695	0.09310	N	1	B;B	0.33694	0.421;0.002	B;B	0.26770	0.073;0.007	T	0.13124	-1.0521	10	0.25751	T	0.34	.	6.3999	0.21632	0.0:0.8301:0.0:0.1699	.	81;81	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	T	81	ENSP00000290691:P81T;ENSP00000402142:P81T	ENSP00000290691:P81T	P	+	1	0	RGL4	22364583	0.994000	0.37717	0.000000	0.03702	0.001000	0.01503	3.162000	0.50755	0.370000	0.24538	0.543000	0.68304	CCG		0.547	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		5	88	1	0	0.014758	1	0.0164942	5	88					A	24034583	C	A	24034583	3	1	62	1	0	0	0	0	1	0	0	0	13279	623	22	5	247	5	RGL4	22	24034583	Missense_Mutation	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		24034583	27269983	22	1200										
PIM2	11040	broad.mit.edu	37	chrX	48776050	48776050	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtaggggaggatgtactcaCctggcggcggcgtgggggtc	20	8	1	0			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chrX:48776050C>T	ENST00000376509.4	-	1	251		c.e1+1			NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase						apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GATGTACTCACCTGGCGGCGG	0.697																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.e1+1		pim-2 oncogene							15	19	18					X																	48776050		2192	4271	6463	SO:0001630	splice_region_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48776050C>T	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.61+1G>A	X.37:g.48776050C>T								NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			1	251	-								A8K4G6|Q99739	Splice_Site	SNP	ENST00000376509.4	37		CCDS14312.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669714	0.29693	.	.	ENSG00000102096	ENST00000376509	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1022	0.48182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIM2	48660994	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	2.587000	0.46128	2.092000	0.63282	0.544000	0.68410	.		0.697	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		Intron	3	18	0	0	0	1	0	3	18					T	48776050	C	T	48776050	5	4	62	1	0	0	0	0	0	0	1	0	11928	521	18	3	897	3	PIM2	23	48776050	Splice_Site	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08		48776050	106494510	23	1201										
CUL4B	8450	broad.mit.edu	37	chrX	119672576	119672576	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgcactctttccgactaaCaggcgcttggctaaatcttt	8	11	2	0			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chrX:119672576C>A	ENST00000404115.3	-	15	2246	c.1845G>T	c.(1843-1845)ctG>ctT	p.L615L	CUL4B_ENST00000336592.6_Silent_p.L602L|CUL4B_ENST00000371322.5_Silent_p.L597L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	615					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCCGACTAACAGGCGCTTGG	0.348																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1789-1791)ctG>ctT		cullin 4B							107	106	106					X																	119672576		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119672576C>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1845G>T	X.37:g.119672576C>A						CUL4B_ENST00000336592.6_Silent_p.L602L|CUL4B_ENST00000404115.3_Silent_p.L615L	p.L597L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			13	1852	-			615					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.1791G>T	CCDS35379.1																																																																																				0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		16	114	1	0	1.67942e-08	1	2.05864e-08	16	114					A	119672576	C	A	119672576	2	1	62	1	0	0	0	0	0	0	0	1	4058	465	17	5		5	CUL4B	23	119672576	Silent	SNP	C	TCGA-QT-A5XP-01A-11D-A35D-08	70896526	119672576	35597984	24	1202										
CDC42BPA	8476	broad.mit.edu	37	chr1	227387293	227387293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	ctggaaagcatagtgcaaggTtgtaatccatttattgtctc	9	7	1	0	rs146827361	byFrequency	TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr1:227387293T>C	ENST00000366769.3	-	4	1706	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGTGCAAGGTTGTAATCCAT	0.289																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(415-417)Acc>Gcc		CDC42 binding protein kinase alpha (DMPK-like)		T	ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	120	118	118		415,415	4.3	1	1	dbSNP_134	118	2,8588	2.2+/-6.3	0,2,4293	yes	missense,missense	CDC42BPA	NM_003607.3,NM_014826.4	58,58	0,3,6495	CC,CT,TT		0.0233,0.0227,0.0231	benign,benign	139/1720,139/1639	227387293	3,12993	2203	4295	6498	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227387293T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.415A>G	1.37:g.227387293T>C	ENSP00000355731:p.Thr139Ala					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A	p.T139A	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			4	1706	-		all_cancers(173;0.156)|Prostate(94;0.0792)	139			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.415A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.549028	0.45383	2.27E-4	2.33E-4	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.45	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	N	0.05534	-0.03	0.58432	D	0.999996	D;P;B;B	0.63046	0.992;0.916;0.234;0.081	D;P;B;B	0.65874	0.939;0.721;0.14;0.034	T	0.13098	-1.0522	10	0.14252	T	0.57	.	11.0853	0.48082	0.0:0.0724:0.0:0.9276	.	139;139;139;139	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	A	139	ENSP00000355731:T139A;ENSP00000355729:T139A;ENSP00000335341:T139A;ENSP00000355728:T139A;ENSP00000355726:T139A;ENSP00000443275:T139A;ENSP00000355727:T139A	ENSP00000335341:T139A	T	-	1	0	CDC42BPA	225453916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.201000	0.72124	0.915000	0.36847	0.533000	0.62120	ACC		0.289	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		5	17	0	0	0	1	0	5	17					C	227387293	T	C	227387293	3	2	63	1	0	0	0	0	1	0	0	0	3072	1725	60	4	4876	4	CDC42BPA	1	227387293	Missense_Mutation	SNP	T	TCGA-QT-A69Q-01A-11D-A35D-08		227387293	21863328	1	1203										
SETD2	29072	broad.mit.edu	37	chr3	47161862	47161862	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	tctaactttctttctgtcctGaagctcaccatcactttcag	4	13	6	1			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr3:47161862G>C	ENST00000409792.3	-	3	4306	c.4264C>G	c.(4264-4266)Cag>Gag	p.Q1422E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1422					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCTGTCCTGAAGCTCACCA	0.438			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4264-4266)Cag>Gag		SET domain containing 2							188	180	183					3																	47161862		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161862G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4264C>G	3.37:g.47161862G>C	ENSP00000386759:p.Gln1422Glu						p.Q1422E	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4306	-		Acute lymphoblastic leukemia(5;0.0169)	1422					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4264C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	6.003	0.368904	0.11352	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.88277	-2.36	5.18	5.18	0.71444	.	0.136830	0.34025	N	0.004327	T	0.74839	0.3769	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.26672	0.156;0.156	B;B	0.24541	0.054;0.054	T	0.59247	-0.7490	10	0.23302	T	0.38	.	5.5827	0.17258	0.0764:0.1404:0.6377:0.1455	.	1422;1422	F2Z317;Q9BYW2	.;SETD2_HUMAN	E	1422	ENSP00000386759:Q1422E	ENSP00000386759:Q1422E	Q	-	1	0	SETD2	47136866	0.978000	0.34361	0.999000	0.59377	0.974000	0.67602	2.682000	0.46934	2.690000	0.91761	0.563000	0.77884	CAG		0.438	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		5	65	0	0	0	1	0	5	65					C	47161862	G	C	47161862	3	2	63	1	0	0	0	0	1	0	0	0	14131	1299	45	5	3506	5	SETD2	3	47161862	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		47161862	150860568	2	1204										
EXOC2	55770	broad.mit.edu	37	chr6	598916	598916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	gtgacttggccttttcataaTcattaataaccacatcataa	4	9	3	1			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:598916T>C	ENST00000230449.4	-	9	1049	c.914A>G	c.(913-915)gAt>gGt	p.D305G	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	305					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTTCATAATCATTAATAAC	0.289																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(913-915)gAt>gGt		exocyst complex component 2							77	82	80					6																	598916		2203	4297	6500	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:598916T>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.914A>G	6.37:g.598916T>C	ENSP00000230449:p.Asp305Gly					EXOC2_ENST00000448181.3_Intron	p.D305G	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	9	1049	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	305					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.914A>G	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058113	0.76074	.	.	ENSG00000112685	ENST00000230449	T	0.56444	0.46	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72354	-0.4319	10	0.62326	D	0.03	-1.9261	15.2939	0.73888	0.0:0.0:0.0:1.0	.	305	Q96KP1	EXOC2_HUMAN	G	305	ENSP00000230449:D305G	ENSP00000230449:D305G	D	-	2	0	EXOC2	543916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.665000	0.83852	2.005000	0.58758	0.482000	0.46254	GAT		0.289	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		21	105	0	0	0	1	0	21	105					C	598916	T	C	598916	3	2	63	1	0	0	0	0	1	0	0	0	5302	1435	50	4	1940	4	EXOC2	6	598916	Missense_Mutation	SNP	T	TCGA-QT-A69Q-01A-11D-A35D-08		598916	170516151	3	1205										
F13A1	2162	broad.mit.edu	37	chr6	6318876	6318876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	tgctcttctgcctccaaaggCggtcctggaagtttctgaca	10	12	3	1	rs138865075		TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:6318876C>T	ENST00000264870.3	-	2	287	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	8					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCTCCAAAGGCGGTCCTGGAA	0.468													C|||	1	0.000199681	0	0	5008	,	,		15192	0.001		0	False		,,,				2504	0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(22-24)Gcc>Acc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	160	148	152		22	-9.3	0	6	dbSNP_134	152	0,8600		0,0,4300	yes	missense	F13A1	NM_000129.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	8/733	6318876	2,13004	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318876C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.22G>A	6.37:g.6318876C>T	ENSP00000264870:p.Ala8Thr						p.A8T	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			2	287	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	8					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.22G>A	CCDS4496.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.562	-0.536529	0.04082	4.54E-4	0.0	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	D;D	0.86366	-2.11;-2.11	4.64	-9.28	0.00656	Immunoglobulin E-set (1);	0.839087	0.10764	N	0.636831	T	0.36166	0.0957	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35151	-0.9800	10	0.05436	T	0.98	.	7.7893	0.29110	0.0906:0.1371:0.0901:0.6822	.	8;8	F5H080;P00488	.;F13A_HUMAN	T	8;8;8;46	ENSP00000264870:A8T;ENSP00000413334:A8T	ENSP00000264870:A8T	A	-	1	0	F13A1	6263875	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.147000	0.01293	-3.050000	0.00260	-1.829000	0.00594	GCC		0.468	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		17	130	0	0	0	1	0	17	130					T	6318876	C	T	6318876	3	4	63	1	0	0	0	0	1	0	0	0	5340	768	27	1	2232	1	F13A1	6	6318876	Missense_Mutation	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08	5719960	6318876	164796191	4	1206										
EEF1A1	1915	broad.mit.edu	37	chr6	74229620	74229620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	acatacctcagcagcctcctTctcaaatttttcaatggttc	4	13	3	0			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:74229620T>C	ENST00000316292.9	-	1	1121	c.130A>G	c.(130-132)Aag>Gag	p.K44E	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	44	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCAGCCTCCTTCTCAAATTTT	0.423																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(130-132)Aag>Gag		eukaryotic translation elongation factor 1 alpha 1							127	129	128					6																	74229620		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229620T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.130A>G	6.37:g.74229620T>C	ENSP00000339063:p.Lys44Glu					EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E	p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1121	-			44					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.130A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380554	0.42207	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.23965	0.0580	L	0.39326	1.205	0.80722	D	1	B;B;B;B;B	0.14012	0.002;0.009;0.009;0.009;0.009	B;B;B;B;B	0.26416	0.013;0.069;0.069;0.069;0.069	T	0.21999	-1.0229	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	44;44;44;44;44	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	E	44	ENSP00000339063:K44E;ENSP00000339053:K44E;ENSP00000330054:K44E;ENSP00000348651:K44E;ENSP00000392366:K44E	ENSP00000339053:K44E	K	-	1	0	EEF1A1	74286341	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.669000	0.83911	1.874000	0.54306	0.454000	0.30748	AAG		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		4	132	0	0	0	1	0	4	132					C	74229620	T	C	74229620	3	2	63	1	0	0	0	0	1	0	0	0	4923	1792	62	4	1286	4	EEF1A1	6	74229620	Missense_Mutation	SNP	T	TCGA-QT-A69Q-01A-11D-A35D-08	67910744	74229620	96885447	5	1207										
TIAM2	26230	broad.mit.edu	37	chr6	155569142	155569142	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	atctgcttgtagctaaaactGacaaagccttcaaggctttt	7	9	2	1			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:155569142G>C	ENST00000461783.3	+	22	4934	c.3661G>C	c.(3661-3663)Gac>Cac	p.D1221H	TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D557H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1221	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTAAAACTGACAAAGCCTT	0.448											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3661-3663)Gac>Cac		T-cell lymphoma invasion and metastasis 2							86	90	89					6																	155569142		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569142G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3661G>C	6.37:g.155569142G>C	ENSP00000437188:p.Asp1221His		OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D557H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H	p.D1221H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	4934	+		Ovarian(120;0.196)	1221			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3661G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872887	0.91664	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.962	D;D;D;D	0.97110	0.993;1.0;0.999;0.927	T	0.75590	-0.3265	10	0.49607	T	0.09	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	557;1221;1245;1221	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1221;1467;1221;1221;1221;597;1245;1221;533;557;146	ENSP00000437188:D1221H;ENSP00000434901:D1221H;ENSP00000407746:D1221H;ENSP00000327315:D1221H;ENSP00000356142:D597H;ENSP00000353528:D1245H;ENSP00000433348:D1221H;ENSP00000407183:D533H;ENSP00000435335:D557H;ENSP00000275246:D146H	ENSP00000275246:D146H	D	+	1	0	TIAM2	155610834	1.000000	0.71417	0.305000	0.25099	0.857000	0.48899	9.869000	0.99810	2.657000	0.90304	0.655000	0.94253	GAC		0.448	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		13	109	0	0	0	1	0	13	109					C	155569142	G	C	155569142	3	2	63	1	0	0	0	0	1	0	0	0	15888	1290	45	5	3727	5	TIAM2	6	155569142	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08	81339522	155569142	15545925	6	1208										
ASTN2	23245	broad.mit.edu	37	chr9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	actctgtccccagtcactgcGcacacacaggtgtctgtgaa	9	14	3	1			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr9:119739005G>A	ENST00000313400.4	-	8	1751	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C			O75129	ASTN2_HUMAN	astrotactin 2	551					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTCACTGCGCACACACAGG	0.507																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1651-1653)Cgc>Tgc		astrotactin 2							111	89	96					9																	119739005		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119739005G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1651C>T	9.37:g.119739005G>A	ENSP00000314038:p.Arg551Cys					ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C	p.R551C			O75129	ASTN2_HUMAN			8	1751	-			551					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1651C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219085	0.79464	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.25250	1.92;1.92;1.81;2.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.993;0.999	T	0.05582	-1.0876	9	.	.	.	-23.3294	20.0795	0.97766	0.0:0.0:1.0:0.0	.	500;551;551	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	551;551;278;500	ENSP00000314038:R551C;ENSP00000363108:R551C;ENSP00000363098:R278C;ENSP00000354504:R500C	.	R	-	1	0	ASTN2	118778826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.479000	0.81095	2.747000	0.94245	0.650000	0.86243	CGC		0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	43	0	0	0	1	0	5	43					A	119739005	G	A	119739005	3	1	63	1	0	0	0	0	1	0	0	0	1065	1087	38	1	2664	1	ASTN2	9	119739005	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		119739005	21474426	7	1209										
C10orf90	118611	broad.mit.edu	37	chr10	128153427	128153427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	gtctctagacagacagtcatCgcttggagagctatccccaa	9	12	2	3			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr10:128153427C>T	ENST00000284694.7	-	4	1492	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N|C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	458					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGACAGTCATCGCTTGGAGAG	0.488																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1372-1374)Gat>Aat		chromosome 10 open reading frame 90							114	110	111					10																	128153427		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128153427C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1372G>A	10.37:g.128153427C>T	ENSP00000284694:p.Asp458Asn					C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N	p.D458N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	4	1492	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	458					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1372G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449358	0.01080	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.17854	2.25;2.25;2.25	4.44	1.36	0.22044	.	0.995724	0.08138	N	0.992091	T	0.04952	0.0133	N	0.02539	-0.55	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.002	T	0.39643	-0.9604	10	0.02654	T	1	-0.2384	3.4459	0.07481	0.0:0.3332:0.2417:0.4251	.	555;458	F5GZL2;Q96M02	.;CJ090_HUMAN	N	411;458;555;458	ENSP00000284694:D458N;ENSP00000444369:D555N;ENSP00000405995:D458N	ENSP00000284694:D458N	D	-	1	0	C10orf90	128143417	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.094000	0.11094	0.075000	0.16796	0.637000	0.83480	GAT		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		4	75	0	0	0	1	0	4	75					T	128153427	C	T	128153427	3	4	63	1	0	0	0	0	1	0	0	0	1623	884	31	2	751	2	C10orf90	10	128153427	Missense_Mutation	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08		128153427	7381320	8	1210										
CDHR5	53841	broad.mit.edu	37	chr11	618714	618714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	gaggtgctggttcccataccGgggggcatcggctgagaggt	18	9	0	1	rs554478114		TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr11:618714G>A	ENST00000358353.3	-	14	2167	c.1845C>T	c.(1843-1845)ccC>ccT	p.P615P	IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Silent_p.P615P|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	615	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCCCATACCGGGGGGCATCG	0.662													N|||	1	0.000199681	0	0	5008	,	,		16104	0.001		0	False		,,,				2504	0					ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1843-1845)ccC>ccT		cadherin-related family member 5							117	123	121					11																	618714		2203	4300	6503	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618714G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1845C>T	11.37:g.618714G>A						CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Silent_p.P615P	p.P615P			Q9HBB8	CDHR5_HUMAN			14	2167	-			615			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.1845C>T	CCDS7707.1																																																																																				0.662	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		9	113	0	0	0	1	0	9	113					A	618714	G	A	618714	2	1	63	1	0	0	0	0	0	0	0	1	3122	1103	39	2		2	CDHR5	11	618714	Silent	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		618714	134387802	9	1211										
AHNAK	79026	broad.mit.edu	37	chr11	62287729	62287729	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	tcaatatcaggcatggagatCttgggggctttgatgctcat	12	7	4	2			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr11:62287729C>T	ENST00000378024.4	-	5	14434	c.14160G>A	c.(14158-14160)aaG>aaA	p.K4720K	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4720					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATGGAGATCTTGGGGGCTT	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14158-14160)aaG>aaA		AHNAK nucleoprotein							196	197	197					11																	62287729		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287729C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14160G>A	11.37:g.62287729C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K4720K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14434	-		Melanoma(852;0.155)	4720					A1A586	Silent	SNP	ENST00000378024.4	37	c.14160G>A	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		35	222	0	0	0	1	0	35	222					T	62287729	C	T	62287729	2	4	63	1	0	0	0	0	0	0	0	1	414	912	32	3		3	AHNAK	11	62287729	Silent	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08	61669015	62287729	72718787	10	1212										
NID2	22795	broad.mit.edu	37	chr14	52505584	52505584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	tggggaaggacgggtgtctgGgggcgtgcctgcacacctgg	20	9	1	0			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr14:52505584G>A	ENST00000216286.5	-	9	2137	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	NID2_ENST00000541773.1_Missense_Mutation_p.P660L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	713	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGGTGTCTGGGGGCGTGCCT	0.517																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(2137-2139)cCc>cTc		nidogen 2 (osteonidogen)							142	139	140					14																	52505584		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52505584G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2138C>T	14.37:g.52505584G>A	ENSP00000216286:p.Pro713Leu					NID2_ENST00000541773.1_Missense_Mutation_p.P660L	p.P713L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			9	2137	-	Breast(41;0.0639)|all_epithelial(31;0.123)		713			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2138C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473903	0.43942	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.22539	1.95;1.95	5.95	5.95	0.96441	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.496451	0.24276	N	0.039944	T	0.36166	0.0957	M	0.67953	2.075	0.09310	N	0.999995	B;P;D;P	0.60575	0.409;0.622;0.988;0.741	B;B;P;P	0.58577	0.348;0.275;0.841;0.568	T	0.30416	-0.9979	10	0.27082	T	0.32	.	10.5361	0.45004	0.0:0.1791:0.6901:0.1307	.	307;660;715;713	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	L	713;307;660;715	ENSP00000216286:P713L;ENSP00000443730:P660L	ENSP00000216286:P713L	P	-	2	0	NID2	51575334	0.432000	0.25554	0.165000	0.22776	0.154000	0.21943	1.756000	0.38390	2.829000	0.97493	0.655000	0.94253	CCC		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			6	47	0	0	0	1	0	6	47					A	52505584	G	A	52505584	3	1	63	1	0	0	0	0	1	0	0	0	10415	1232	43	3	2045	3	NID2	14	52505584	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		52505584	54843956	11	1213										
SETD1A	9739	broad.mit.edu	37	chr16	30983037	30983037	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	aggcgtctccagcaaggcctGcaggtaggtgccacagggct	15	12	1	0			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr16:30983037G>T	ENST00000262519.8	+	13	4041	c.3355G>T	c.(3355-3357)Gca>Tca	p.A1119S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1119	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGCAAGGCCTGCAGGTAGGTG	0.577																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3355-3357)Gca>Tca		SET domain containing 1A							26	25	25					16																	30983037		2186	4268	6454	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30983037G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3355G>T	16.37:g.30983037G>T	ENSP00000262519:p.Ala1119Ser						p.A1119S	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	4041	+			1119			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3355G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	8.698	0.909099	0.17833	.	.	ENSG00000099381	ENST00000262519	D	0.94280	-3.39	5.66	2.46	0.29980	.	1.105250	0.06839	N	0.795240	D	0.87958	0.6309	L	0.36672	1.1	0.24743	N	0.99302	B	0.13594	0.008	B	0.16722	0.016	T	0.72877	-0.4159	10	0.10377	T	0.69	.	7.163	0.25675	0.0985:0.4245:0.477:0.0	.	1119	O15047	SET1A_HUMAN	S	1119	ENSP00000262519:A1119S	ENSP00000262519:A1119S	A	+	1	0	SETD1A	30890538	0.167000	0.22975	0.819000	0.32651	0.110000	0.19582	-0.062000	0.11674	0.708000	0.31955	0.467000	0.42956	GCA		0.577	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		3	17	1	0	0.00024832	1	0.00024832	3	17					T	30983037	G	T	30983037	3	4	63	1	0	0	0	0	1	0	0	0	14130	1319	46	5	3401	5	SETD1A	16	30983037	Missense_Mutation	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		30983037	59371716	12	1214										
MTSS1L	92154	broad.mit.edu	37	chr16	70697852	70697852	+	Frame_Shift_Del	DEL	C	C	-													0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	ctgctcgtcctcggcccctgCcccggggtacccggctgcct							TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr16:70697852delC	ENST00000338779.6	-	15	2246	c.1972delG	c.(1972-1974)gcafs	p.A658fs	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	658					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGGCCCCTGCCCCGGGGTAC	0.726																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1972-1974)cafs		metastasis suppressor 1-like							8	8	8					16																	70697852		2121	4177	6298	SO:0001589	frameshift_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70697852delC		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1972delG	16.37:g.70697852delC	ENSP00000341171:p.Ala658fs					FLJ00418_ENST00000597002.1_5'UTR	p.A658fs	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	2246	-			658					A6NJI7|Q9BUA8	Frame_Shift_Del	DEL	ENST00000338779.6	37	c.1972delG	CCDS32476.1																																																																																				0.726	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		2	4						2	4	---	---	---	---	-	70697852	C	-	70697852	7	5	63	1	0	1	0	1	0	0	0	0	9963	739	26	0	275	0	MTSS1L	16	70697852	Frame_Shift_Del	DEL	C	TCGA-QT-A69Q-01A-11D-A35D-08	39714815	70697852	19656901	13	1215										
NUMBL	9253	broad.mit.edu	37	chr19	41186839	41186839	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	cacggagtccttcagtgccaGaaaacagtggcagatccagc	11	12	1	2			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr19:41186839G>A	ENST00000252891.4	-	6	690	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_Silent_p.L134L|NUMBL_ENST00000598779.1_Silent_p.L134L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	175	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTCAGTGCCAGAAAACAGTGG	0.572																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(523-525)Ctg>Ttg		numb homolog (Drosophila)-like							109	103	105					19																	41186839		2203	4300	6503	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41186839G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.523C>T	19.37:g.41186839G>A						NUMBL_ENST00000598779.1_Silent_p.L134L|NUMBL_ENST00000540131.1_Silent_p.L134L	p.L175L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		6	690	-			175			PID.		Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.523C>T	CCDS12561.1																																																																																				0.572	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		6	74	0	0	0	1	0	6	74					A	41186839	G	A	41186839	2	1	63	1	0	0	0	0	0	0	0	1	10752	933	33	3		3	NUMBL	19	41186839	Silent	SNP	G	TCGA-QT-A69Q-01A-11D-A35D-08		41186839	17942144	14	1216										
SPRY3	10251	broad.mit.edu	37	chrX	155004226	155004226	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.266666666666667	4	1	2.4936170212766	6.23404255319149	1.55851063829787	1	1	0	atgagcctcatctccctcttCctaccctgcctgtgctgcta	6	17	3	1			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chrX:155004226C>T	ENST00000302805.2	+	2	1124	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	231	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.F231F(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTCCCTCTTCCTACCCTGCC	0.597																																						ENST00000302805.2																			1	Substitution - coding silent(1)	p.F231F(1)	lung(1)								c.(691-693)ttC>ttT		sprouty homolog 3 (Drosophila)							223	203	210					X																	155004226		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004226C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"Pseudoautosomal regions / PAR2"	11271	protein-coding gene	gene with protein product	"antagonist of FGF signaling"	300531	"sprouty (Drosophila) homolog 2"			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.693C>T	X.37:g.155004226C>T							p.F231F	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	1124	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		231			Cys-rich.|SPR.		A8K0H8	Silent	SNP	ENST00000302805.2	37	c.693C>T	CCDS14769.4																																																																																				0.597	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		4	123	0	0	0	1	0	4	123					T	155004226	C	T	155004226	2	4	63	1	0	0	0	0	0	0	0	1	15106	854	30	3		3	SPRY3	23	155004226	Silent	SNP	C	TCGA-QT-A69Q-01A-11D-A35D-08		155004226	266334	15	1217										
PARP1	142	broad.mit.edu	37	chr1	226570832	226570832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	tggtttctggggggaatataCggtcctgttttttaaccttc	11	7	1	0			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr1:226570832C>T	ENST00000366794.5	-	8	1207	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	355					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGGAATATACGGTCCTGTTT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1063-1065)cGt>cAt	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							119	147	138					1																	226570832		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570832C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1064G>A	1.37:g.226570832C>T	ENSP00000355759:p.Arg355His						p.R355H	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1207	-	Breast(184;0.133)		355					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1064G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340517	0.81911	.	.	ENSG00000143799	ENST00000366794	T	0.12984	2.63	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35822	-0.9773	10	0.72032	D	0.01	.	18.5003	0.90878	0.0:1.0:0.0:0.0	.	355	P09874	PARP1_HUMAN	H	355	ENSP00000355759:R355H	ENSP00000355759:R355H	R	-	2	0	PARP1	224637455	1.000000	0.71417	0.941000	0.38009	0.382000	0.30200	6.773000	0.75006	2.446000	0.82766	0.561000	0.74099	CGT		0.498	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		4	266	0	0	0	1	0	4	266					T	226570832	C	T	226570832	3	4	64	1	0	0	0	0	1	0	0	0	11454	536	19	1	2044	1	PARP1	1	226570832	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		226570832	22679789	1	1218										
EPAS1	2034	broad.mit.edu	37	chr2	46607403	46607403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	ggacttggagacactggcacCctatatccccatggacgggg	13	12	0	1			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr2:46607403C>T	ENST00000263734.3	+	12	2102	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACACTGGCACCCTATATCCCC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)cCc>cTc		endothelial PAS domain protein 1							85	93	91					2																	46607403		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607403C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1592C>T	2.37:g.46607403C>T	ENSP00000263734:p.Pro531Leu						p.P531L	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2102	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1592C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063493	0.93898	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	L	531	ENSP00000263734:P531L	ENSP00000263734:P531L	P	+	2	0	EPAS1	46460907	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		42	76	0	0	0	1	0	42	76					T	46607403	C	T	46607403	3	4	64	1	0	0	0	0	1	0	0	0	5150	623	22	3	1638	3	EPAS1	2	46607403	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		46607403	196591970	2	1219										
CD200R1L	344807	broad.mit.edu	37	chr3	112546338	112546338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	tccgaattctgatcaggtctAgagacccaggttattctctc	8	11	4	2			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:112546338A>G	ENST00000398214.1	-	3	531	c.306T>C	c.(304-306)tcT>tcC	p.S102S	CD200R1L_ENST00000448932.1_Silent_p.S81S|CD200R1L_ENST00000488794.1_Silent_p.S81S	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	102	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATCAGGTCTAGAGACCCAGG	0.468																																						ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(241-243)tcT>tcC		CD200 receptor 1-like							170	163	165					3																	112546338		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546338A>G	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.306T>C	3.37:g.112546338A>G						CD200R1L_ENST00000398214.1_Silent_p.S102S|CD200R1L_ENST00000448932.1_Silent_p.S81S	p.S81S			Q6Q8B3	MO2R2_HUMAN			5	832	-			102			Ig-like V-type.		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.243T>C	CCDS43131.1																																																																																				0.468	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		4	126	0	0	0	1	0	4	126					G	112546338	A	G	112546338	2	3	64	1	0	0	0	0	0	0	0	1	2982	407	15	4		4	CD200R1L	3	112546338	Silent	SNP	A	TCGA-QT-A7U0-01A-11D-A35D-08		112546338	85476092	3	1220			1	1		2	2	23	A		1.137063e-05
CD200R1L	344807	broad.mit.edu	37	chr3	112546360	112546360	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	agacccaggttattctctcaAcagtacagttggtttccttg	8	10	2	1	rs202235033	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr3:112546360A>T	ENST00000398214.1	-	3	509	c.284T>A	c.(283-285)gTt>gAt	p.V95D	CD200R1L_ENST00000448932.1_Missense_Mutation_p.V74D|CD200R1L_ENST00000488794.1_Missense_Mutation_p.V74D	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	95	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TATTCTCTCAACAGTACAGTT	0.448													a|||	3	0.000599042	0	0.0043	5008	,	,		19891	0		0	False		,,,				2504	0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(220-222)gTt>gAt		CD200 receptor 1-like							180	171	174					3																	112546360		2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546360A>T	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"Immunoglobulin superfamily / C2-set domain containing"	24665	protein-coding gene	gene with protein product	"CD200 receptor 2"						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.284T>A	3.37:g.112546360A>T	ENSP00000381272:p.Val95Asp					CD200R1L_ENST00000398214.1_Missense_Mutation_p.V95D|CD200R1L_ENST00000448932.1_Missense_Mutation_p.V74D	p.V74D			Q6Q8B3	MO2R2_HUMAN			5	810	-			95			Ig-like V-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.221T>A	CCDS43131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	a	0.016	-1.522279	0.00967	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.28454	1.61;1.61;1.61	3.99	-2.86	0.05717	Immunoglobulin-like fold (1);	0.616580	0.16519	N	0.210906	T	0.03695	0.0105	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33828	-0.9853	10	0.02654	T	1	.	0.0785	0.00029	0.3222:0.1961:0.1641:0.3177	.	95	Q6Q8B3	MO2R2_HUMAN	D	95;74;74	ENSP00000381272:V95D;ENSP00000418413:V74D;ENSP00000415132:V74D	ENSP00000381272:V95D	V	-	2	0	CD200R1L	114029050	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.185000	0.09684	-0.391000	0.07763	-1.056000	0.02311	GTT		0.448	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		4	121	0	0	0	1	0	4	121					T	112546360	A	T	112546360	3	4	64	1	0	0	0	0	1	0	0	0	2982	43	2	5	547	5	CD200R1L	3	112546360	Missense_Mutation	SNP	A	TCGA-QT-A7U0-01A-11D-A35D-08	22	112546360	85476070	4	1221			1	1		2	2	23	A		1.137063e-05
PPP2R2C	5522	broad.mit.edu	37	chr4	6380190	6380190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	gtgggagccacttgatcttgTtgatcttctcctctatctcc	8	12	5	2			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr4:6380190T>C	ENST00000382599.4	-	3	494	c.278A>G	c.(277-279)aAc>aGc	p.N93S	PPP2R2C_ENST00000335585.5_Missense_Mutation_p.N93S|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	93					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGATCTTGTTGATCTTCTC	0.602																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(277-279)aAc>aGc		protein phosphatase 2, regulatory subunit B, gamma							147	137	140					4																	6380190		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380190T>C	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.278A>G	4.37:g.6380190T>C	ENSP00000372042:p.Asn93Ser					PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.N76S|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.N86S|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.N93S|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.N86S	p.N93S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			3	301	-			93					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.278A>G		.	.	.	.	.	.	.	.	.	.	T	25.5	4.649048	0.87958	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.47	4.47	0.54385	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.975;0.996;0.996;0.991	P;P;P;P;D	0.64410	0.858;0.847;0.902;0.858;0.925	T	0.55335	-0.8157	10	0.87932	D	0	-69.3607	13.3713	0.60715	0.0:0.0:0.0:1.0	.	86;189;93;76;93	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	S	93;86;76;93;86	ENSP00000335083:N93S;ENSP00000423649:N86S;ENSP00000422374:N76S;ENSP00000372042:N93S;ENSP00000425247:N86S	ENSP00000335083:N93S	N	-	2	0	PPP2R2C	6431091	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.244000	0.78228	2.017000	0.59298	0.260000	0.18958	AAC		0.602	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		4	59	0	0	0	1	0	4	59					C	6380190	T	C	6380190	3	2	64	1	0	0	0	0	1	0	0	0	12386	1725	60	4	1093	4	PPP2R2C	4	6380190	Missense_Mutation	SNP	T	TCGA-QT-A7U0-01A-11D-A35D-08		6380190	184774086	5	1222										
PAPSS1	9061	broad.mit.edu	37	chr4	108535505	108535505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	ggccttctcgagcaagtttgCgcattcgtgttcctgaaata	10	10	1	1			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr4:108535505C>T	ENST00000265174.4	-	12	2047	c.1775G>A	c.(1774-1776)cGc>cAc	p.R592H		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	592					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGCAAGTTTGCGCATTCGTGT	0.383																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1774-1776)cGc>cAc		3'-phosphoadenosine 5'-phosphosulfate synthase 1							111	103	105					4																	108535505		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108535505C>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1775G>A	4.37:g.108535505C>T	ENSP00000265174:p.Arg592His						p.R592H	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	12	2047	-		Hepatocellular(203;0.217)	592					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1775G>A	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424251	0.96111	.	.	ENSG00000138801	ENST00000265174	T	0.44881	0.91	6.16	6.16	0.99307	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046932	0.85682	D	0.000000	T	0.81341	0.4802	H	0.99273	4.495	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.88123	0.2833	10	0.87932	D	0	-10.0074	20.8598	0.99761	0.0:1.0:0.0:0.0	.	592	O43252	PAPS1_HUMAN	H	592	ENSP00000265174:R592H	ENSP00000265174:R592H	R	-	2	0	PAPSS1	108754954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.371000	0.79600	2.937000	0.99478	0.650000	0.86243	CGC		0.383	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			3	71	0	0	0	1	0	3	71					T	108535505	C	T	108535505	3	4	64	1	0	0	0	0	1	0	0	0	11434	768	27	1	103	1	PAPSS1	4	108535505	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08	102155315	108535505	82618771	6	1223										
AGXT2	64902	broad.mit.edu	37	chr5	35035400	35035400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	cagctcattggcttctgagcCactgttcaccaagaaaatga	8	11	3	3			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr5:35035400C>T	ENST00000231420.6	-	5	708	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	170					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GCTTCTGAGCCACTGTTCACC	0.433																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(508-510)Ggc>Agc		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						118	127	124					5																	35035400		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35035400C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.508G>A	5.37:g.35035400C>T	ENSP00000231420:p.Gly170Ser						p.G170S	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	5	708	-	all_lung(31;4.52e-05)		170					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.508G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189677	0.94923	.	.	ENSG00000113492	ENST00000231420	D	0.98633	-5.04	6.06	6.06	0.98353	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.97461	1.0034	10	0.87932	D	0	-6.3889	20.6282	0.99521	0.0:1.0:0.0:0.0	.	78;170;170	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	S	170	ENSP00000231420:G170S	ENSP00000231420:G170S	G	-	1	0	AGXT2	35071157	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.250000	0.78287	2.871000	0.98454	0.655000	0.94253	GGC		0.433	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		29	56	0	0	0	1	0	29	56					T	35035400	C	T	35035400	3	4	64	1	0	0	0	0	1	0	0	0	405	594	21	3	1076	3	AGXT2	5	35035400	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		35035400	145879860	7	1224										
GABRA6	2559	broad.mit.edu	37	chr5	161116048	161116048	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	ttctgagtctgaataatttgAtggtcagtaaaatctggacg	10	5	4	3			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr5:161116048A>T	ENST00000274545.5	+	4	752	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.M97L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	107					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAATAATTTGATGGTCAGTAA	0.413										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(289-291)Atg>Ttg		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74	75	75					5																	161116048		2203	4299	6502	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116048A>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.319A>T	5.37:g.161116048A>T	ENSP00000274545:p.Met107Leu	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.M107L|RP11-348M17.2_ENST00000521984.1_RNA	p.M97L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	531	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	107					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.289A>T	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.84|17.84	3.486899|3.486899	0.63962|0.63962	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.02|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51517|.	0.1679|.	N|N	0.17764|0.17764	0.52|0.52	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.31077|.	0.307|.	B|.	0.43018|.	0.405|.	T|.	0.48068|.	-0.9067|.	10|.	0.34782|.	T|.	0.22|.	.|.	16.1778|16.1778	0.81874|0.81874	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	107|.	Q16445|.	GBRA6_HUMAN|.	L|C	107;97;54;2|46	ENSP00000274545:M107L;ENSP00000430527:M97L;ENSP00000430212:M54L;ENSP00000427989:M2L|.	ENSP00000274545:M107L|.	M|X	+|+	1|3	0|0	GABRA6|GABRA6	161048626|161048626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.176000|9.176000	0.94839|0.94839	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.413	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			4	102	0	0	0	1	0	4	102					T	161116048	A	T	161116048	3	4	64	1	0	0	0	0	1	0	0	0	6165	333	12	5	333	5	GABRA6	5	161116048	Missense_Mutation	SNP	A	TCGA-QT-A7U0-01A-11D-A35D-08	126080648	161116048	19799212	8	1225										
PKHD1	5314	broad.mit.edu	37	chr6	51771115	51771115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	tctactgaaggagttcctcaCtgtgcagccctgtatgaaag	10	10	2	2			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr6:51771115C>A	ENST00000371117.3	-	41	6981	c.6706G>T	c.(6706-6708)Gtg>Ttg	p.V2236L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6706-6708)Gtg>Ttg		polycystic kidney and hepatic disease 1 (autosomal recessive)							69	69	69					6																	51771115		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51771115C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6706G>T	6.37:g.51771115C>A	ENSP00000360158:p.Val2236Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.V2236L	p.V2236L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			41	6981	-	Lung NSC(77;0.0605)		2236					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6706G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815115	0.32053	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92397	-3.03;-3.03	5.25	1.4	0.22301	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.197660	0.35207	N	0.003363	D	0.85801	0.5781	M	0.77103	2.36	0.09310	N	1	B;B	0.32071	0.22;0.355	B;B	0.37989	0.262;0.057	T	0.79140	-0.1926	10	0.42905	T	0.14	.	8.7278	0.34480	0.0:0.6892:0.0:0.3108	.	2236;2236	P08F94-2;P08F94	.;PKHD1_HUMAN	L	2236	ENSP00000360158:V2236L;ENSP00000341097:V2236L	ENSP00000341097:V2236L	V	-	1	0	PKHD1	51879074	0.008000	0.16893	0.004000	0.12327	0.118000	0.20060	0.111000	0.15458	0.215000	0.20761	-0.136000	0.14681	GTG		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		3	59	1	0	0.115264	1	0.115264	3	59					A	51771115	C	A	51771115	3	1	64	1	0	0	0	0	1	0	0	0	11971	565	20	5	5665	5	PKHD1	6	51771115	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		51771115	119343952	9	1226										
WDR11	55717	broad.mit.edu	37	chr10	122662677	122662677	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	agctcctaaagaagctgctcCtcgagacaaactgagcaacc	8	13	0	3			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr10:122662677C>G	ENST00000263461.6	+	23	3110	c.2864C>G	c.(2863-2865)cCt>cGt	p.P955R	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAAGCTGCTCCTCGAGACAAA	0.498																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(2863-2865)cCt>cGt		WD repeat domain 11							99	83	89					10																	122662677		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122662677C>G	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2864C>G	10.37:g.122662677C>G	ENSP00000263461:p.Pro955Arg					WDR11_ENST00000604509.1_3'UTR	p.P955R	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			23	3110	+			955					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.2864C>G	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	1.055	-0.674740	0.03378	.	.	ENSG00000120008	ENST00000263461	D	0.90504	-2.68	5.65	4.74	0.60224	.	0.245966	0.42821	D	0.000643	D	0.84247	0.5430	L	0.34521	1.04	0.20074	N	0.999933	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.73183	-0.4063	10	0.38643	T	0.18	-3.2571	10.2308	0.43253	0.1372:0.7872:0.0:0.0756	.	955;955;246;484	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	R	955	ENSP00000263461:P955R	ENSP00000263461:P955R	P	+	2	0	WDR11	122652667	0.001000	0.12720	0.040000	0.18447	0.032000	0.12392	1.407000	0.34657	1.512000	0.48834	0.655000	0.94253	CCT		0.498	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			13	35	0	0	0	1	0	13	35					G	122662677	C	G	122662677	3	3	64	1	0	0	0	0	1	0	0	0	17270	681	24	5	2954	5	WDR11	10	122662677	Missense_Mutation	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		122662677	12872070	10	1227										
C13orf33	84935	broad.mit.edu	37	chr13	31480851	31480852	+	Frame_Shift_Ins	INS	-	-	G													0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	cggggagccggcggcggcgcINSgggggggcttcaacgtcttc							TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr13:31480851_31480852insG	ENST00000380482.4	+	1	524_525	c.199_200insG	c.(199-201)cggfs	p.R67fs	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000592950.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	67					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											ggcggcggcgcgggggggcTTC	0.738																																						ENST00000380482.4																			0											c.(199-201)gggfs		mesenteric estrogen-dependent adipogenesis																																				SO:0001589	frameshift_variant	84935							g.chr13:31480851_31480852insG	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.206dupG	13.37:g.31480858_31480858dupG	ENSP00000369849:p.Arg67fs					TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA	p.G67fs	NM_032849.3	NP_116238.2					1	524_525	+								Q8IXF1|Q96K26|Q96NC8	Frame_Shift_Ins	INS	ENST00000380482.4	37	c.199_200insG	CCDS9338.1																																																																																				0.738	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		2	4						2	4	---	---	---	---	G	31480852	-	G	31480851	7	5	64	1	0	1	1	0	0	0	0	0	1727	759	27	0	201	0	C13orf33	13	31480851	Frame_Shift_Ins	INS	-	TCGA-QT-A7U0-01A-11D-A35D-08		31480851	83689027	11	1228										
MTMR10	54893	broad.mit.edu	37	chr15	31251152	31251152	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	ttagagtggctccagcaccaGagctaggggagaggtagaat	15	7	0	4			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr15:31251152G>C	ENST00000435680.1	-	9	946	c.849C>G	c.(847-849)ctC>ctG	p.L283L	MTMR10_ENST00000425768.1_3'UTR|RNU6-466P_ENST00000391224.1_RNA|MTMR10_ENST00000563714.1_Silent_p.L201L|MTMR10_ENST00000314404.8_Silent_p.L35L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	283	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TCCAGCACCAGAGCTAGGGGA	0.478																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(847-849)ctC>ctG		myotubularin related protein 10							119	115	117					15																	31251152		1985	4154	6139	SO:0001819	synonymous_variant	54893						phosphatase activity	g.chr15:31251152G>C	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.849C>G	15.37:g.31251152G>C						MTMR10_ENST00000314404.8_Silent_p.L35L|MTMR10_ENST00000563714.1_Silent_p.L201L|MTMR10_ENST00000425768.1_3'UTR	p.L283L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	9	946	-		all_lung(180;2.81e-11)	283			Myotubularin phosphatase.		Q6P4Q6	Silent	SNP	ENST00000435680.1	37	c.849C>G	CCDS45204.1																																																																																				0.478	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		29	57	0	0	0	1	0	29	57					C	31251152	G	C	31251152	2	2	64	1	0	0	0	0	0	0	0	1	9939	929	33	5		5	MTMR10	15	31251152	Silent	SNP	G	TCGA-QT-A7U0-01A-11D-A35D-08		31251152	71280240	12	1229										
KCNJ12	3768	broad.mit.edu	37	chr17	21318660	21318660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	cccccaacccccgggatgacCgcggccagccgggccaaccc	11	22	0	1	rs148939916	byFrequency	TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr17:21318660C>T	ENST00000583088.1	+	3	901	c.6C>T	c.(4-6)acC>acT	p.T2T	KCNJ12_ENST00000331718.5_Silent_p.T2T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	2					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCGGGATGACCGCGGCCAGCC	0.697										Prostate(3;0.18)			.|||	3	0.000599042	8e-04	0	5008	,	,		29919	0		0	False		,,,				2504	0.002					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(4-6)acC>acT		potassium inwardly-rectifying channel, subfamily J, member 12		C		0,4402		0,0,2201	30	31	30		6	-10.7	0	17	dbSNP_134	30	17,8581		0,17,4282	no	coding-synonymous	KCNJ12	NM_021012.4		0,17,6483	TT,TC,CC		0.1977,0.0,0.1308		2/434	21318660	17,12983	2201	4299	6500	SO:0001819	synonymous_variant	3768							g.chr17:21318660C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.6C>T	17.37:g.21318660C>T		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.T2T	p.T2T	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	901	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.6C>T	CCDS11219.1																																																																																				0.697	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	26	0	0	0	1	0	4	26					T	21318660	C	T	21318660	2	4	64	1	0	0	0	0	0	0	0	1	8046	639	23	2		2	KCNJ12	17	21318660	Silent	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08		21318660	59876550	13	1230										
WDR62	284403	broad.mit.edu	37	chr19	36579971	36579971	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	atccagatgatcagctgtggGgctgacaagagcatctactt	11	9	2	4			TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr19:36579971G>T	ENST00000270301.7	+	14	1800	c.1800G>T	c.(1798-1800)ggG>ggT	p.G600G	WDR62_ENST00000401500.2_Silent_p.G600G			O43379	WDR62_HUMAN	WD repeat domain 62	600					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGCTGTGGGGCTGACAAGA	0.627																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1798-1800)ggG>ggT		WD repeat domain 62							81	62	69					19																	36579971		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36579971G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1800G>T	19.37:g.36579971G>T						WDR62_ENST00000270301.7_Silent_p.G600G	p.G600G	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		14	1835	+	Esophageal squamous(110;0.162)		600					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1800G>T	CCDS33001.1																																																																																				0.627	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		6	10	1	0	0.00116845	1	0.00121925	6	10					T	36579971	G	T	36579971	2	4	64	1	0	0	0	0	0	0	0	1	17310	1219	43	5		5	WDR62	19	36579971	Silent	SNP	G	TCGA-QT-A7U0-01A-11D-A35D-08		36579971	22549012	14	1231										
NLRP8	126205	broad.mit.edu	37	chr19	56466123	56466123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	tgggccagaaacaagttctaCgcccacaagcgctggtgtgc	12	12	1	1	rs377108884		TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr19:56466123C>T	ENST00000291971.3	+	3	770	c.699C>T	c.(697-699)taC>taT	p.Y233Y	NLRP8_ENST00000590542.1_Silent_p.Y233Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	233	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Y233Y(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACAAGTTCTACGCCCACAAGC	0.527																																						ENST00000291971.3																			1	Substitution - coding silent(1)	p.Y233Y(1)	ovary(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(697-699)taC>taT		NLR family, pyrin domain containing 8		C		0,4406		0,0,2203	104	88	94		699	0.9	0.2	19		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		233/1049	56466123	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466123C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.699C>T	19.37:g.56466123C>T						NLRP8_ENST00000590542.1_Silent_p.Y233Y	p.Y233Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	770	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	233			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.699C>T	CCDS12937.1																																																																																				0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		13	65	0	0	0	1	0	13	65					T	56466123	C	T	56466123	2	4	64	1	0	0	0	0	0	0	0	1	10483	547	19	1		1	NLRP8	19	56466123	Silent	SNP	C	TCGA-QT-A7U0-01A-11D-A35D-08	19886152	56466123	2662860	15	1232										
COL18A1	80781	broad.mit.edu	37	chr21	46906873	46906874	+	Frame_Shift_Ins	INS	-	-	G													0.0625	1	1	0.693396226415094	2.77358490566038	0	1	1	0	caggcccccctgggccccctINSgggcccccaggaccaggact							TCGA-QT-A7U0-01A-11D-A35D-08	TCGA-QT-A7U0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7599c42d-e42b-4a22-bf08-ed78437a1652	f19ac3ac-2b5b-474c-8259-dd93c42aef05	g.chr21:46906873_46906874insG	ENST00000359759.4	+	15	3066_3067	c.3045_3046insG	c.(3046-3048)gggfs	p.G1016fs	COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.G781fs|COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.G601fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1016	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGGCCCCCTGGGCCCCCAGG	0.728																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3043-3048)ccggccfs		collagen, type XVIII, alpha 1																																				SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46906873_46906874insG		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3048dupG	21.37:g.46906876_46906876dupG	ENSP00000352798:p.Gly1016fs					COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.A601fs|COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.A781fs	p.A1016fs			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	15	3066_3067	+			1016			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Ins	INS	ENST00000359759.4	37	c.3045_3046insG																																																																																					0.728	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			2	4						2	4	---	---	---	---	G	46906874	-	G	46906873	7	5	64	1	0	1	1	0	0	0	0	0	3675	1567	55	0	3217	0	COL18A1	21	46906873	Frame_Shift_Ins	INS	-	TCGA-QT-A7U0-01A-11D-A35D-08		46906873	1223022	16	1233										
PSME4	23198	broad.mit.edu	37	chr2	54124014	54124014	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggataccagcaacagctgaGatagccatctagaaaaggaa	10	8	1	2			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr2:54124014G>T	ENST00000404125.1	-	32	3670	c.3615C>A	c.(3613-3615)atC>atA	p.I1205I	PSME4_ENST00000421748.2_Silent_p.I349I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1205					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAACAGCTGAGATAGCCATCT	0.353																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(3613-3615)atC>atA		proteasome (prosome, macropain) activator subunit 4							165	171	169					2																	54124014		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54124014G>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3615C>A	2.37:g.54124014G>T						PSME4_ENST00000421748.2_Silent_p.I349I	p.I1205I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		32	3670	-			1205					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.3615C>A	CCDS33197.2																																																																																				0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		33	66	1	0	4.3181e-19	1	4.60597e-19	33	66					T	54124014	G	T	54124014	2	4	65	1	0	0	0	0	0	0	0	1	12709	932	33	5		5	PSME4	2	54124014	Silent	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		54124014	189075359	1	1234										
TANK	10010	broad.mit.edu	37	chr2	162061273	162061273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcagccacaagataaagtgaTttcaggaatagcaagagaaa	9	6	2	3			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr2:162061273T>C	ENST00000392749.2	+	4	535	c.296T>C	c.(295-297)aTt>aCt	p.I99T	TANK_ENST00000405852.1_Missense_Mutation_p.I99T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T|TANK_ENST00000259075.2_Missense_Mutation_p.I99T|TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000406287.1_Missense_Mutation_p.I157T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	99					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GATAAAGTGATTTCAGGAATA	0.363																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(295-297)aTt>aCt		TRAF family member-associated NFKB activator							78	80	80					2																	162061273		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162061273T>C	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.296T>C	2.37:g.162061273T>C	ENSP00000376505:p.Ile99Thr					TANK_ENST00000457476.1_Missense_Mutation_p.I99T|TANK_ENST00000259075.2_Missense_Mutation_p.I99T|TANK_ENST00000406287.1_Missense_Mutation_p.I157T|TANK_ENST00000405852.1_Missense_Mutation_p.I99T|TANK_ENST00000402568.1_Missense_Mutation_p.I158T|TANK_ENST00000403609.1_Missense_Mutation_p.I99T	p.I99T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			4	535	+			99					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.296T>C	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	T	1.040	-0.679184	0.03378	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T	0.28895	2.03;2.03;1.59	5.55	4.35	0.52113	.	0.317042	0.31612	N	0.007349	T	0.15782	0.0380	N	0.08118	0	0.26606	N	0.972927	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.14420	-1.0473	10	0.34782	T	0.22	-8.8569	10.2528	0.43379	0.8324:0.0:0.0:0.1676	.	99;99	Q92844;Q7Z4J6	TANK_HUMAN;.	T	99;100;99;99;99;100;157;158;99;125;99	ENSP00000259075:I99T;ENSP00000376505:I99T;ENSP00000385487:I99T	ENSP00000259075:I99T	I	+	2	0	TANK	161769519	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	1.962000	0.40442	0.962000	0.38057	-0.503000	0.04515	ATT		0.363	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		15	30	0	0	0	1	0	15	30					C	162061273	T	C	162061273	3	2	65	1	0	0	0	0	1	0	0	0	15543	1493	52	4	306	4	TANK	2	162061273	Missense_Mutation	SNP	T	TCGA-RM-A68T-01A-11D-A35D-08	107937259	162061273	81138100	2	1235										
ROBO1	6091	broad.mit.edu	37	chr3	78719367	78719367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctggactgcctgtggccacaCagctgaggacgaaagtgcca	13	12	0	1			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr3:78719367C>T	ENST00000464233.1	-	11	1540	c.1427G>A	c.(1426-1428)tGt>tAt	p.C476Y	ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.C437Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	476	Ig-like C2-type 5.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTGGCCACACAGCTGAGGAC	0.517																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(1309-1311)tGt>tAt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							50	50	50					3																	78719367		1974	4172	6146	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78719367C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1427G>A	3.37:g.78719367C>T	ENSP00000420321:p.Cys476Tyr					ROBO1_ENST00000495273.1_Missense_Mutation_p.C440Y|ROBO1_ENST00000464233.1_Missense_Mutation_p.C476Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.C440Y	p.C437Y			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	9	2307	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	476			Ig-like C2-type 4.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.1310G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819792	0.90873	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	T;T;T;T;D	0.89123	-0.57;-0.57;-0.57;-0.57;-2.47	5.98	5.98	0.97165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	H	0.99619	4.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.98623	1.0668	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	440;440;476;440;440;437	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	Y	437;440;476;440;440;476;9	ENSP00000406043:C437Y;ENSP00000420321:C476Y;ENSP00000420637:C440Y;ENSP00000417992:C440Y;ENSP00000418553:C9Y	.	C	-	2	0	ROBO1	78802057	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.838000	0.97847	0.591000	0.81541	TGT		0.517	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		4	7	0	0	0	1	0	4	7					T	78719367	C	T	78719367	3	4	65	1	0	0	0	0	1	0	0	0	13513	478	17	3	3612	3	ROBO1	3	78719367	Missense_Mutation	SNP	C	TCGA-RM-A68T-01A-11D-A35D-08		78719367	119303063	3	1236										
ANKRD55	79722	broad.mit.edu	37	chr5	55407048	55407048	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcagcttatcagaagaagaCacagtccaaactttgtagga	9	8	1	3			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr5:55407048C>A	ENST00000341048.4	-	10	1678	c.1527G>T	c.(1525-1527)gtG>gtT	p.V509V	ANKRD55_ENST00000504958.2_Silent_p.V466V|ANKRD55_ENST00000434982.2_Silent_p.V221V|ANKRD55_ENST00000505970.2_5'Flank	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	509										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CAGAAGAAGACACAGTCCAAA	0.453																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1525-1527)gtG>gtT		ankyrin repeat domain 55							142	146	144					5																	55407048		2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55407048C>A	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1527G>T	5.37:g.55407048C>A						ANKRD55_ENST00000434982.2_Silent_p.V221V|ANKRD55_ENST00000504958.2_Silent_p.V466V	p.V509V	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1678	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	508					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.1527G>T	CCDS34161.1																																																																																				0.453	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		33	79	1	0	6.02846e-25	1	6.88966e-25	33	79					A	55407048	C	A	55407048	2	1	65	1	0	0	0	0	0	0	0	1	681	465	17	5		5	ANKRD55	5	55407048	Silent	SNP	C	TCGA-RM-A68T-01A-11D-A35D-08		55407048	125508212	4	1237										
SPDYE3	441272	broad.mit.edu	37	chr7	99912168	99912168	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tactcagcccctggggtagaTcccagccccccgcgtaggtc	11	17	1	1			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr7:99912168T>G	ENST00000332397.6	+	6	1180	c.996T>G	c.(994-996)gaT>gaG	p.D332E	SPDYE3_ENST00000437326.2_De_novo_Start_OutOfFrame	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	332										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CTGGGGTAGATCCCAGCCCCC	0.572																																						ENST00000437326.2																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20								speedy/RINGO cell cycle regulator family member E3																																				SO:0001583	missense	441272							g.chr7:99912168T>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.996T>G	7.37:g.99912168T>G	ENSP00000329565:p.Asp332Glu					SPDYE3_ENST00000332397.6_Missense_Mutation_p.D332E				A6NKU9	SPDE3_HUMAN			0	1180	+								Q495Y9|Q6PHC4	Translation_Start_Site	SNP	ENST00000332397.6	37		CCDS47658.2	.	.	.	.	.	.	.	.	.	.	T	1.458	-0.563169	0.03939	.	.	ENSG00000214300	ENST00000332397	.	.	.	.	.	.	.	.	.	.	.	T	0.26376	0.0644	L	0.29908	0.895	0.09310	N	0.999997	.	.	.	.	.	.	T	0.26121	-1.0112	4	0.37606	T	0.19	.	.	.	.	.	.	.	.	E	332	.	ENSP00000329565:D332E	D	+	3	2	SPDYE3	99750104	0.998000	0.40836	0.031000	0.17742	0.032000	0.12392	0.670000	0.25157	0.131000	0.18576	0.130000	0.15844	GAT		0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		17	12	0	0	0	1	0	17	12					G	99912168	T	G	99912168	3	3	65	1	0	0	0	0	1	0	0	0	15029	1432	50	5	1018	5	SPDYE3	7	99912168	Missense_Mutation	SNP	T	TCGA-RM-A68T-01A-11D-A35D-08		99912168	59226495	5	1238										
FAM166A	401565	broad.mit.edu	37	chr9	140139813	140139813	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcgctcttccaggcctcttcCccgtatactgggtgtcccaa	9	16	2	0			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr9:140139813C>A	ENST00000344774.4	-	3	522	c.468G>T	c.(466-468)ggG>ggT	p.G156G	FAM166A_ENST00000388932.2_Silent_p.G156G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	156						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						AGGCCTCTTCCCCGTATACTG	0.657																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(466-468)ggG>ggT		family with sequence similarity 166, member A							75	76	76					9																	140139813		2203	4300	6503	SO:0001819	synonymous_variant	401565							g.chr9:140139813C>A	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.468G>T	9.37:g.140139813C>A						FAM166A_ENST00000388932.2_Silent_p.G156G	p.G156G	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			3	522	-			156					A6NND9|Q8N830	Silent	SNP	ENST00000344774.4	37	c.468G>T	CCDS35186.1																																																																																				0.657	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		12	32	1	0	4.3838e-07	1	4.3838e-07	12	32					A	140139813	C	A	140139813	2	1	65	1	0	0	0	0	0	0	0	1	5481	610	22	5		5	FAM166A	9	140139813	Silent	SNP	C	TCGA-RM-A68T-01A-11D-A35D-08		140139813	1073618	6	1239										
PPRC1	23082	broad.mit.edu	37	chr10	103904019	103904019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctttgcagccaaaaaggagtGtcctcctccggctcctgctg	10	14	0	0			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr10:103904019G>A	ENST00000278070.2	+	7	3602	c.3563G>A	c.(3562-3564)tGt>tAt	p.C1188Y	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AAAAAGGAGTGTCCTCCTCCG	0.522																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3562-3564)tGt>tAt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							93	87	89					10																	103904019		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103904019G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3563G>A	10.37:g.103904019G>A	ENSP00000278070:p.Cys1188Tyr					PPRC1_ENST00000370012.1_Missense_Mutation_p.C155Y|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.C1188Y	p.C1188Y	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	7	3602	+		Colorectal(252;0.122)	1188					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3563G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053112	0.55218	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.32753	1.82;1.82;1.44	5.25	4.28	0.50868	.	0.447688	0.25584	N	0.029676	T	0.30448	0.0765	L	0.36672	1.1	0.27522	N	0.95136	P;P;P	0.51653	0.947;0.924;0.947	P;P;P	0.51135	0.556;0.66;0.556	T	0.11518	-1.0584	10	0.56958	D	0.05	.	7.1033	0.25351	0.0917:0.2701:0.6382:0.0	.	1188;1068;1188	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Y	1188;1188;155	ENSP00000278070:C1188Y;ENSP00000399743:C1188Y;ENSP00000359029:C155Y	ENSP00000278070:C1188Y	C	+	2	0	PPRC1	103894009	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	2.711000	0.47177	2.469000	0.83416	0.491000	0.48974	TGT		0.522	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		16	29	0	0	0	1	0	16	29					A	103904019	G	A	103904019	3	1	65	1	0	0	0	0	1	0	0	0	12410	1377	48	3	3589	3	PPRC1	10	103904019	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		103904019	31630728	7	1240										
PLEKHA7	144100	broad.mit.edu	37	chr11	16823313	16823313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caagtgctggggctggtctcGgtactgctccatctgtctgt	13	11	3	0			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr11:16823313G>A	ENST00000355661.3	-	16	2219	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	737					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGCTGGTCTCGGTACTGCTCC	0.557																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2209-2211)Cga>Tga		pleckstrin homology domain containing, family A member 7							114	104	107					11																	16823313		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16823313G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2209C>T	11.37:g.16823313G>A	ENSP00000347883:p.Arg737*					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R737*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R737*	p.R737*			Q6IQ23	PKHA7_HUMAN			16	2219	-			737					B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.2209C>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682262	0.98431	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	.	.	.	5.88	3.84	0.44239	.	0.164390	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-10.7591	13.1816	0.59657	0.0:0.0:0.5978:0.4022	.	.	.	.	X	737;737;737;68	.	ENSP00000347883:R737X	R	-	1	2	PLEKHA7	16779889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.648000	0.46647	0.753000	0.32945	0.555000	0.69702	CGA		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		12	23	0	0	0	1	0	12	23					A	16823313	G	A	16823313	4	1	65	1	0	0	0	0	0	1	0	0	12061	1124	39	2	1188	2	PLEKHA7	11	16823313	Nonsense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		16823313	118183203	8	1241										
ABCC9	10060	broad.mit.edu	37	chr12	22025622	22025622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ggatggcaaggagaagagagGacttcccacatcctacttgg	13	9	0	2			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr12:22025622G>A	ENST00000261201.4	-	16	2134	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S712F|ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	712	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAGAAGAGAGGACTTCCCACA	0.418																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2134-2136)tCc>tTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						250	241	244					12																	22025622		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22025622G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2135C>T	12.37:g.22025622G>A	ENSP00000261201:p.Ser712Phe					ABCC9_ENST00000345162.2_Missense_Mutation_p.S676F|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S712F	p.S712F	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			16	2134	-			712			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2135C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886526	0.91814	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.053864	0.85682	D	0.000000	D	0.99324	0.9763	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98607	1.0661	10	0.87932	D	0	-10.9076	19.4298	0.94759	0.0:0.0:1.0:0.0	.	712;712	O60706;O60706-2	ABCC9_HUMAN;.	F	712;339;712;676	ENSP00000261200:S712F;ENSP00000440521:S339F;ENSP00000261201:S712F;ENSP00000261202:S676F	ENSP00000261200:S712F	S	-	2	0	ABCC9	21916889	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.581000	0.98210	2.757000	0.94681	0.563000	0.77884	TCC		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		41	121	0	0	0	1	0	41	121					A	22025622	G	A	22025622	3	1	65	1	0	0	0	0	1	0	0	0	59	1174	41	3	2748	3	ABCC9	12	22025622	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		22025622	111826273	9	1242										
NBEA	26960	broad.mit.edu	37	chr13	35692572	35692572	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	tttaatgtcggaacacccagCctcaatgataccagcatttg							TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr13:35692572delC	ENST00000400445.3	+	16	2738	c.2204delC	c.(2203-2205)gccfs	p.A735fs	NBEA_ENST00000540320.1_Frame_Shift_Del_p.A735fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A735fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A735fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	735					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAACACCCAGCCTCAATGATA	0.333																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(2203-2205)gcfs		neurobeachin							51	45	47					13																	35692572		1842	4075	5917	SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35692572delC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2204delC	13.37:g.35692572delC	ENSP00000383295:p.Ala735fs					NBEA_ENST00000400445.3_Frame_Shift_Del_p.A735fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.A735fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.A735fs	p.A735fs			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	16	2738	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	735					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	c.2204delC	CCDS45026.1																																																																																				0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		2	4						2	4	---	---	---	---	-	35692572	C	-	35692572	7	5	65	1	0	1	0	1	0	0	0	0	10187	739	26	0	2266	0	NBEA	13	35692572	Frame_Shift_Del	DEL	C	TCGA-RM-A68T-01A-11D-A35D-08		35692572	79477306	10	1243										
JAG2	3714	broad.mit.edu	37	chr14	105634399	105634399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagctccccgttcacgttccGcagcgcgctcagctgcagct	10	18	2	0			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr14:105634399G>A	ENST00000331782.3	-	2	515	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	JAG2_ENST00000347004.2_Missense_Mutation_p.R38W|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	38					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTCACGTTCCGCAGCGCGCTC	0.726																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(112-114)Cgg>Tgg		jagged 2							11	13	12					14																	105634399		2132	4145	6277	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105634399G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.112C>T	14.37:g.105634399G>A	ENSP00000328169:p.Arg38Trp					RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.R38W	p.R38W	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	2	515	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	38					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.112C>T	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778260	0.49786	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.97665	-4.48;-4.48	2.33	1.2	0.21068	Notch ligand, N-terminal (1);	0.448802	0.19148	U	0.121501	D	0.95806	0.8635	L	0.27053	0.805	0.31547	N	0.65922	D;D	0.76494	0.998;0.999	P;D	0.65443	0.9;0.935	D	0.93203	0.6593	10	0.87932	D	0	.	8.5247	0.33298	0.0:0.0:0.6429:0.3571	.	38;38	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	W	38	ENSP00000328169:R38W;ENSP00000328566:R38W	ENSP00000328169:R38W	R	-	1	2	JAG2	104705444	0.412000	0.25392	1.000000	0.80357	0.525000	0.34531	0.086000	0.14935	1.170000	0.42753	0.089000	0.15464	CGG		0.726	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			9	16	0	0	0	1	0	9	16					A	105634399	G	A	105634399	3	1	65	1	0	0	0	0	1	0	0	0	7935	1086	38	1	3704	1	JAG2	14	105634399	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		105634399	1715141	11	1244										
BAHD1	22893	broad.mit.edu	37	chr15	40758272	40758272	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	acggaccctgagctggtgttCctttgccgccatgtctatga							TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr15:40758272delC	ENST00000416165.1	+	7	2357	c.2286delC	c.(2284-2286)ttcfs	p.F762fs	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|BAHD1_ENST00000561234.1_Frame_Shift_Del_p.F761fs	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	762	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGCTGGTGTTCCTTTGCCGCC	0.632																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(2281-2283)ttfs		bromo adjacent homology domain containing 1							119	119	119					15																	40758272		2203	4300	6503	SO:0001589	frameshift_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40758272delC	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2286delC	15.37:g.40758272delC	ENSP00000396976:p.Phe762fs					BAHD1_ENST00000416165.1_Frame_Shift_Del_p.F762fs|BAHD1_ENST00000560846.1_Frame_Shift_Del_p.F759fs|RP11-64K12.8_ENST00000559730.1_RNA	p.F761fs			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	7	2542	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	762			BAH.		Q8NDF7|Q9Y2F4	Frame_Shift_Del	DEL	ENST00000416165.1	37	c.2283delC	CCDS10058.1																																																																																				0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		24	75						24	75	---	---	---	---	-	40758272	C	-	40758272	7	5	65	1	0	1	0	1	0	0	0	0	1297	854	30	0	2308	0	BAHD1	15	40758272	Frame_Shift_Del	DEL	C	TCGA-RM-A68T-01A-11D-A35D-08		40758272	61773120	12	1245										
SARM1	7448	broad.mit.edu	37	chr17	26699156	26699156	+	5'Flank	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	tggcggtgcctgggccagatGggggcggtggcacgggccca							TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr17:26699156delG	ENST00000226218.4	-	0	0				SARM1_ENST00000457710.3_Start_Codon_Del|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TGGGCCAGATGGGGGCGGTGG	0.751																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12								sterile alpha and TIR motif containing 1							1	1	1					17																	26699156		1212	2645	3857	SO:0001631	upstream_gene_variant	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26699156delG	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500		17.37:g.26699156delG	Exception_encountered					CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron		NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	0	474	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)							B2R7G0|P01141|Q9BSH7	Translation_Start_Site	DEL	ENST00000226218.4	37		CCDS11229.1																																																																																				0.751	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		2	4						2	4	---	---	---	---	-	26699156	G	-	26699156	6	5	65	0	1	1	0	1	0	0	0	0	13842	1348	47	0		0	SARM1	17	26699156	5'Flank	DEL	G	TCGA-RM-A68T-01A-11D-A35D-08		26699156	54496054	13	1246										
PLIN4	729359	broad.mit.edu	37	chr19	4512008	4512008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgtcgcgatattttgggtcGttttcagcccagtttgcaca	10	10	1	0	rs200977488		TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr19:4512008G>A	ENST00000301286.3	-	3	1921	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	641	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ATTTTGGGTCGTTTTCAGCCC	0.557																																						ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(1921-1923)aCg>aTg		perilipin 4		G	MET/THR	0,4132		0,0,2066	146	151	149		1922	4.8	0.1	19		149	1,8369		0,1,4184	yes	missense	PLIN4	NM_001080400.1	81	0,1,6250	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	641/1358	4512008	1,12501	2066	4185	6251	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4512008G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1922C>T	19.37:g.4512008G>A	ENSP00000301286:p.Thr641Met						p.T641M	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	1921	-			641			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1922C>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967341	0.53507	0.0	1.19E-4	ENSG00000167676	ENST00000301286	T	0.08634	3.07	4.77	4.77	0.60923	.	0.000000	0.42053	D	0.000774	T	0.29976	0.0750	M	0.84683	2.71	0.26288	N	0.978165	D	0.89917	1.0	D	0.76071	0.987	T	0.10823	-1.0613	10	0.56958	D	0.05	-13.842	11.021	0.47718	0.0931:0.0:0.9069:0.0	.	641	Q96Q06	PLIN4_HUMAN	M	641	ENSP00000301286:T641M	ENSP00000301286:T641M	T	-	2	0	PLIN4	4463008	0.000000	0.05858	0.135000	0.22099	0.005000	0.04900	0.289000	0.18957	2.201000	0.70794	0.289000	0.19496	ACG		0.557	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		4	120	0	0	0	1	0	4	120					A	4512008	G	A	4512008	3	1	65	1	0	0	0	0	1	0	0	0	12092	1145	40	1	2167	1	PLIN4	19	4512008	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		4512008	54616975	14	1247										
ZNF341	84905	broad.mit.edu	37	chr20	32336747	32336747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agatctccacatacatcacaGtgcccccgtccccactgatc	5	18	2	2			TCGA-RM-A68T-01A-11D-A35D-08	TCGA-RM-A68T-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e91bda-60f7-46f5-b5f6-8ff65daf1559	c15b0ebf-65d4-47ac-991b-556a04917cde	g.chr20:32336747G>A	ENST00000375200.1	+	4	723	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	ZNF341_ENST00000342427.2_Missense_Mutation_p.V120M	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATACATCACAGTGCCCCCGTC	0.552																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(358-360)Gtg>Atg		zinc finger protein 341							150	109	123					20																	32336747		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336747G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.358G>A	20.37:g.32336747G>A	ENSP00000364346:p.Val120Met					ZNF341_ENST00000342427.2_Missense_Mutation_p.V120M	p.V120M			Q9BYN7	ZN341_HUMAN			4	723	+			120					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.358G>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.305009	0.81247	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.13538	2.83;2.58	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.01212	-1.1417	10	0.54805	T	0.06	-22.9712	20.1149	0.97924	0.0:0.0:1.0:0.0	.	61;120;120	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	M	120	ENSP00000344308:V120M;ENSP00000364346:V120M	ENSP00000344308:V120M	V	+	1	0	ZNF341	31800408	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	9.273000	0.95719	2.761000	0.94854	0.650000	0.86243	GTG		0.552	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				10	22	0	0	0	1	0	10	22					A	32336747	G	A	32336747	3	1	65	1	0	0	0	0	1	0	0	0	17854	1029	36	3	372	3	ZNF341	20	32336747	Missense_Mutation	SNP	G	TCGA-RM-A68T-01A-11D-A35D-08		32336747	30688773	15	1248										
ZDBF2	57683	broad.mit.edu	37	chr2	207172767	207172767	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcttgggtcagtcaatagTcaatcgacctcaaataacta	6	9	5	0			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr2:207172767T>A	ENST00000374423.3	+	5	3901	c.3515T>A	c.(3514-3516)gTc>gAc	p.V1172D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1172							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTCAATAGTCAATCGACCT	0.368																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3514-3516)gTc>gAc		zinc finger, DBF-type containing 2							107	103	104					2																	207172767		1884	4101	5985	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172767T>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3515T>A	2.37:g.207172767T>A	ENSP00000363545:p.Val1172Asp						p.V1172D	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3901	+			1172					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3515T>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.197858	0.38806	.	.	ENSG00000204186	ENST00000374423	T	0.61510	0.1	4.1	1.76	0.24704	.	.	.	.	.	T	0.60366	0.2263	L	0.50333	1.59	0.09310	N	0.999999	D	0.61697	0.99	P	0.56398	0.797	T	0.49643	-0.8918	9	0.87932	D	0	.	5.577	0.17228	0.0:0.2199:0.0:0.7801	.	1172	Q9HCK1	ZDBF2_HUMAN	D	1172	ENSP00000363545:V1172D	ENSP00000363545:V1172D	V	+	2	0	ZDBF2	206881012	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.596000	0.24044	0.392000	0.25172	-0.256000	0.11100	GTC		0.368	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	61	0	0	0	1	0	6	61					A	207172767	T	A	207172767	3	1	66	1	0	0	0	0	1	0	0	0	17596	1667	58	5	3525	5	ZDBF2	2	207172767	Missense_Mutation	SNP	T	TCGA-RM-A68W-01A-11D-A35D-08		207172767	36026606	1	1249										
SLC35B2	347734	broad.mit.edu	37	chr6	44224447	44224447	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	tccaggtagttcttccgcctGaagtactgcaccaggaggta							TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr6:44224447delG	ENST00000393812.3	-	2	323	c.180delC	c.(178-180)ttcfs	p.F60fs	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs|SLC35B2_ENST00000393810.1_Frame_Shift_Del_p.F60fs|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	60					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCGCCTGAAGTACTGCA	0.547																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(178-180)ttfs		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							121	129	127					6																	44224447		2203	4300	6503	SO:0001589	frameshift_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224447delG	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.180delC	6.37:g.44224447delG	ENSP00000377401:p.Phe60fs					SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Frame_Shift_Del_p.S19fs|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Frame_Shift_Del_p.F60fs	p.F60fs	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	323	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		60					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Frame_Shift_Del	DEL	ENST00000393812.3	37	c.180delC	CCDS34462.1																																																																																				0.547	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			11	213						11	213	---	---	---	---	-	44224447	G	-	44224447	7	5	66	1	0	1	0	1	0	0	0	0	14576	1281	45	0	1130	0	SLC35B2	6	44224447	Frame_Shift_Del	DEL	G	TCGA-RM-A68W-01A-11D-A35D-08		44224447	126890620	2	1250										
TYW1B	441250	broad.mit.edu	37	chr7	72081809	72081809	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgcttgctgaactttctcTgcagtaggtaacgccctgtg	10	11	1	1	rs201876441	byFrequency	TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195	152	165					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		6	55	0	0	0	1	0	6	55					C	72081809	T	C	72081809	1	2	66	0	1	0	0	0	0	0	0	0	16816	1588	55	4		4	TYW1B	7	72081809	RNA	SNP	T	TCGA-RM-A68W-01A-11D-A35D-08		72081809	87056854	3	1251										
DCHS1	8642	broad.mit.edu	37	chr11	6645532	6645532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtgctgcccggcctggagCcccgtggtctcgtgcttcca	13	16	1	0			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:6645532C>T	ENST00000299441.3	-	21	7786	c.7375G>A	c.(7375-7377)Gct>Act	p.A2459T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2459	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCCTGGAGCCCCGTGGTCT	0.617																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7375-7377)Gct>Act		dachsous cadherin-related 1							24	26	25					11																	6645532		2200	4295	6495	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6645532C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7375G>A	11.37:g.6645532C>T	ENSP00000299441:p.Ala2459Thr						p.A2459T	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	7786	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2459			Cadherin 23.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7375G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	4.207	0.037114	0.08148	.	.	ENSG00000166341	ENST00000299441	T	0.50813	0.73	4.98	-2.33	0.06724	Cadherin (4);Cadherin-like (1);	1.151050	0.06617	N	0.756699	T	0.18718	0.0449	N	0.02403	-0.565	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	10	0.12430	T	0.62	.	6.9193	0.24378	0.1459:0.4362:0.0:0.4178	.	2459	Q96JQ0	PCD16_HUMAN	T	2459	ENSP00000299441:A2459T	ENSP00000299441:A2459T	A	-	1	0	DCHS1	6602108	0.000000	0.05858	0.046000	0.18839	0.964000	0.63967	-0.125000	0.10579	-0.623000	0.05618	-1.598000	0.00824	GCT		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	4	0	0	0	1	0	3	4					T	6645532	C	T	6645532	3	4	66	1	0	0	0	0	1	0	0	0	4287	739	26	3	2525	3	DCHS1	11	6645532	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		6645532	128360984	4	1252										
C11orf82	220042	broad.mit.edu	37	chr11	82645030	82645030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcttggattccaaggcataGgtctagggaaatgccttgct	12	8	1	0			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr11:82645030G>A	ENST00000533655.1	+	6	2862	c.2650G>A	c.(2650-2652)Ggt>Agt	p.G884S	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S|C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		884					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAAGGCATAGGTCTAGGGAA	0.398																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2650-2652)Ggt>Agt		chromosome 11 open reading frame 82							68	67	67					11																	82645030		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645030G>A																												ENST00000533655.1:c.2650G>A	11.37:g.82645030G>A	ENSP00000435421:p.Gly884Ser					C11orf82_ENST00000329143.3_Missense_Mutation_p.G583S|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.G884S	p.G884S	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2862	+			884					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.2650G>A	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	G	7.199	0.593185	0.13875	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.24350	2.18;2.18;1.86	5.83	-0.867	0.10655	.	0.845655	0.10683	N	0.646228	T	0.20820	0.0501	M	0.62723	1.935	0.09310	N	1	B	0.21381	0.055	B	0.15052	0.012	T	0.27739	-1.0065	9	.	.	.	0.1641	3.9369	0.09310	0.3973:0.0:0.3468:0.2558	.	884	Q8IXT1	NOXIN_HUMAN	S	884;884;583	ENSP00000414687:G884S;ENSP00000435421:G884S;ENSP00000329930:G583S	.	G	+	1	0	C11orf82	82322678	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.168000	0.09925	-0.431000	0.07307	-0.136000	0.14681	GGT		0.398	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			4	46	0	0	0	1	0	4	46					A	82645030	G	A	82645030	3	1	66	1	0	0	0	0	1	0	0	0	1665	1000	35	3	2664	3	C11orf82	11	82645030	Missense_Mutation	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08	75999498	82645030	52361486	5	1253										
NFE2	4778	broad.mit.edu	37	chr12	54686887	54686887	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcttaggtggccctgctggCagcccaatgtccaggagggc	16	12	0	0			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr12:54686887C>A	ENST00000540264.2	-	2	902	c.393G>T	c.(391-393)ctG>ctT	p.L131L	NFE2_ENST00000553070.1_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L131L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	131	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCCTGCTGGCAGCCCAATGT	0.577																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(391-393)ctG>ctT		nuclear factor, erythroid 2							102	107	106					12																	54686887		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686887C>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"basic leucine zipper proteins"	7780	protein-coding gene	gene with protein product		601490	"nuclear factor (erythroid-derived 2), 45kD", "nuclear factor (erythroid-derived 2), 45kDa"			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.393G>T	12.37:g.54686887C>A						RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Silent_p.L131L|NFE2_ENST00000553070.1_Silent_p.L131L|NFE2_ENST00000312156.4_Silent_p.L131L	p.L131L			Q16621	NFE2_HUMAN			2	902	-			131			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.393G>T	CCDS8876.1																																																																																				0.577	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		4	99	1	0	2.56e-06	1	2.78261e-06	4	99					A	54686887	C	A	54686887	2	1	66	1	0	0	0	0	0	0	0	1	10366	697	25	5		5	NFE2	12	54686887	Silent	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		54686887	79165008	6	1254										
SLC35B1	10237	broad.mit.edu	37	chr17	47780342	47780342	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatggagcaggtcaggggaCcaaaatacacaaccgtcata	11	9	2	1			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr17:47780342C>G	ENST00000240333.6	-	8	915	c.794G>C	c.(793-795)gGt>gCt	p.G265A	SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A			P78383	S35B1_HUMAN	solute carrier family 35, member B1	265					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						GGTCAGGGGACCAAAATACAC	0.473																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(793-795)gGt>gCt		solute carrier family 35, member B1							135	134	134					17																	47780342		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780342C>G	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"Solute carriers"	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.794G>C	17.37:g.47780342C>G	ENSP00000240333:p.Gly265Ala					SLC35B1_ENST00000415270.2_Missense_Mutation_p.G302A	p.G265A			P78383	S35B1_HUMAN			8	915	-			265					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.794G>C	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996303	0.93167	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.70631	-0.5;-0.5;1.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	M	0.92691	3.335	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73380	0.98;0.967	D	0.90491	0.4467	10	0.72032	D	0.01	-2.4574	18.4394	0.90660	0.0:1.0:0.0:0.0	.	198;265	D3DTX1;P78383	.;S35B1_HUMAN	A	265;302;141;141;198	ENSP00000240333:G265A;ENSP00000409548:G302A;ENSP00000423323:G198A	ENSP00000240333:G265A	G	-	2	0	SLC35B1	45135341	1.000000	0.71417	0.938000	0.37757	0.983000	0.72400	7.435000	0.80391	2.664000	0.90586	0.655000	0.94253	GGT		0.473	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		14	27	0	0	0	1	0	14	27					G	47780342	C	G	47780342	3	3	66	1	0	0	0	0	1	0	0	0	14575	507	18	5	182	5	SLC35B1	17	47780342	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		47780342	33414868	7	1255										
MUC16	94025	broad.mit.edu	37	chr19	9065747	9065747	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactctttctgaattctgctAgtctccaagaagtgaggggt	11	8	4	3			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr19:9065747A>G	ENST00000397910.4	-	3	21902	c.21699T>C	c.(21697-21699)acT>acC	p.T7233T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7235	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTCTGCTAGTCTCCAAGA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21697-21699)acT>acC		mucin 16, cell surface associated							197	185	189					19																	9065747		1979	4164	6143	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065747A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21699T>C	19.37:g.9065747A>G							p.T7233T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21902	-			7235			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21699T>C	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	147	0	0	0	1	0	4	147					G	9065747	A	G	9065747	2	3	66	1	0	0	0	0	0	0	0	1	9973	407	15	4		4	MUC16	19	9065747	Silent	SNP	A	TCGA-RM-A68W-01A-11D-A35D-08		9065747	50063236	8	1256										
SCO2	9997	broad.mit.edu	37	chr22	50962137	50962137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtagtaatccgtgaagaggCcgtcagggttgagcaggtag	16	7	1	3			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chr22:50962137C>T	ENST00000543927.1	-	2	910	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SCO2_ENST00000395693.3_Missense_Mutation_p.G235D|SCO2_ENST00000252785.3_Missense_Mutation_p.G235D|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Missense_Mutation_p.G235D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	235	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGAAGAGGCCGTCAGGGTT	0.582																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(703-705)gGc>gAc		SCO2 cytochrome c oxidase assembly protein							167	148	154					22																	50962137		2203	4300	6503	SO:0001583	missense	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962137C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.704G>A	22.37:g.50962137C>T	ENSP00000444433:p.Gly235Asp					SCO2_ENST00000535425.1_Missense_Mutation_p.G235D|SCO2_ENST00000252785.3_Missense_Mutation_p.G235D|SCO2_ENST00000395693.3_Missense_Mutation_p.G235D	p.G235D	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	910	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	235			Thioredoxin.		Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	c.704G>A	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625146	0.66901	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25	5.07	5.07	0.68467	Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000003	D	0.99363	0.9776	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98748	1.0719	10	0.87932	D	0	-29.2006	17.4056	0.87472	0.0:1.0:0.0:0.0	.	235	O43819	SCO2_HUMAN	D	235	ENSP00000379046:G235D;ENSP00000444433:G235D;ENSP00000444242:G235D;ENSP00000252785:G235D	ENSP00000252785:G235D	G	-	2	0	SCO2	49309003	1.000000	0.71417	0.804000	0.32291	0.120000	0.20174	6.715000	0.74697	2.544000	0.85801	0.643000	0.83706	GGC		0.582	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		5	97	0	0	0	1	0	5	97					T	50962137	C	T	50962137	3	4	66	1	0	0	0	0	1	0	0	0	13932	739	26	3	100	3	SCO2	22	50962137	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08		50962137	342429	9	1257										
PAK3	5063	broad.mit.edu	37	chrX	110435356	110435356	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataattttcaccttcacaggGcatcaggtactgtttataca	6	9	3	0			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:110435356G>A	ENST00000372010.1	+	13	1319	c.877G>A	c.(877-879)Gca>Aca	p.A293T	PAK3_ENST00000425146.1_Splice_Site_p.A278T|PAK3_ENST00000519681.1_Splice_Site_p.A299T|PAK3_ENST00000372007.5_Splice_Site_p.A278T|PAK3_ENST00000262836.4_Splice_Site_p.A293T|PAK3_ENST00000518291.1_Splice_Site_p.A314T|PAK3_ENST00000446737.1_Splice_Site_p.A278T|PAK3_ENST00000360648.4_Splice_Site_p.A314T|PAK3_ENST00000417227.1_Splice_Site_p.A299T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCTTCACAGGGCATCAGGTAC	0.308										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.e13-1		p21 protein (Cdc42/Rac)-activated kinase 3							121	112	115					X																	110435356		2203	4300	6503	SO:0001630	splice_region_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110435356G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.876-1G>A	X.37:g.110435356G>A		TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Splice_Site_p.A278_splice|PAK3_ENST00000372007.4_Splice_Site_p.A278_splice|PAK3_ENST00000372010.1_Splice_Site_p.A293_splice|PAK3_ENST00000360648.4_Splice_Site_p.A314_splice|PAK3_ENST00000425146.1_Splice_Site_p.A278_splice|PAK3_ENST00000417227.1_Splice_Site_p.A299_splice|PAK3_ENST00000518291.1_Splice_Site_p.A314_splice|PAK3_ENST00000262836.4_Splice_Site_p.A293_splice	p.A299_splice			O75914	PAK3_HUMAN			13	1337	+			293			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Splice_Site	SNP	ENST00000372010.1	37	c.893_splice	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469038	0.96274	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.35288	1.05	0.80722	D	1	B;P;B;P;B	0.51653	0.078;0.947;0.095;0.661;0.095	B;P;B;P;B	0.53360	0.13;0.724;0.206;0.534;0.206	T	0.69800	-0.5047	10	0.87932	D	0	.	18.7601	0.91847	0.0:0.0:1.0:0.0	.	299;314;293;278;293	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	T	278;278;293;299;278;314;314;299;293	ENSP00000410853:A278T;ENSP00000401982:A278T;ENSP00000361080:A293T;ENSP00000429113:A299T;ENSP00000361077:A278T;ENSP00000428921:A314T;ENSP00000353864:A314T;ENSP00000389172:A299T;ENSP00000262836:A293T	ENSP00000262836:A293T	A	+	1	0	PAK3	110322012	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.455000	0.97625	2.376000	0.81061	0.544000	0.68410	GCA		0.308	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	Missense_Mutation	4	116	0	0	0	1	0	4	116					A	110435356	G	A	110435356	5	1	66	1	0	0	0	0	0	0	1	0	11402	1217	42	3	978	3	PAK3	23	110435356	Splice_Site	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08		110435356	44835204	10	1258										
AMOT	154796	broad.mit.edu	37	chrX	112021835	112021835	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctctgcatcaggctcttgtCccaggatctgaatgggagtt	11	10	4	1	rs372882602		TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:112021835C>A	ENST00000524145.1	-	12	3289	c.3215G>T	c.(3214-3216)gGa>gTa	p.G1072V	AMOT_ENST00000371959.3_Missense_Mutation_p.G1072V|AMOT_ENST00000371962.1_Missense_Mutation_p.G840V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	1072					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCTCTTGTCCCAGGATCTG	0.408																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3214-3216)gGa>gTa		angiomotin							237	220	226					X																	112021835		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112021835C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3215G>T	X.37:g.112021835C>A	ENSP00000429013:p.Gly1072Val					AMOT_ENST00000524145.1_Missense_Mutation_p.G1072V|AMOT_ENST00000304758.1_Missense_Mutation_p.G663V|AMOT_ENST00000371962.1_Missense_Mutation_p.G840V	p.G1072V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			11	3214	-			1072					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.3215G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.418079	0.42918	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.28666	1.6;1.67;1.91;1.67	5.87	5.0	0.66597	.	0.589593	0.16920	N	0.194134	T	0.22475	0.0542	N	0.19112	0.55	0.51482	D	0.999921	P	0.46277	0.875	B	0.39706	0.307	T	0.01889	-1.1253	10	0.40728	T	0.16	-1.6692	14.9932	0.71406	0.0:0.8609:0.1391:0.0	.	1072	Q4VCS5	AMOT_HUMAN	V	663;1072;840;1072	ENSP00000305557:G663V;ENSP00000361027:G1072V;ENSP00000361030:G840V;ENSP00000429013:G1072V	ENSP00000305557:G663V	G	-	2	0	AMOT	111908491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.822000	0.55708	1.211000	0.43351	0.600000	0.82982	GGA		0.408	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		73	279	1	0	5.04879e-28	1	5.73726e-28	73	279					A	112021835	C	A	112021835	3	1	66	1	0	0	0	0	1	0	0	0	582	855	30	5	43	5	AMOT	23	112021835	Missense_Mutation	SNP	C	TCGA-RM-A68W-01A-11D-A35D-08	1586479	112021835	43248725	11	1259										
IGSF1	3547	broad.mit.edu	37	chrX	130408639	130408639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcagggtaggcctggaggcGgtagctgcagctgtagtttc	16	8	1	0			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:130408639G>A	ENST00000361420.3	-	18	3764	c.3685C>T	c.(3685-3687)Cgc>Tgc	p.R1229C	IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.R1220C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1229	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTGGAGGCGGTAGCTGCAG	0.512																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3658-3660)Cgc>Tgc		immunoglobulin superfamily, member 1							188	173	178					X																	130408639		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408639G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3685C>T	X.37:g.130408639G>A	ENSP00000355010:p.Arg1229Cys					IGSF1_ENST00000370910.1_Missense_Mutation_p.R1220C|IGSF1_ENST00000361420.3_Missense_Mutation_p.R1229C|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1234C	p.R1220C			Q8N6C5	IGSF1_HUMAN			24	4568	-			1229			Ig-like C2-type 12.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3658C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961886	0.53400	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.42	4.54	0.55810	Immunoglobulin-like fold (1);	0.532850	0.17539	N	0.170616	T	0.30665	0.0772	M	0.62723	1.935	0.42167	D	0.991629	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.995;0.997	T	0.01198	-1.1421	10	0.48119	T	0.1	.	8.2694	0.31836	0.1081:0.0:0.8919:0.0	.	1220;673;1229	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1220;1229;1220;1234	ENSP00000359947:R1220C;ENSP00000355010:R1229C;ENSP00000359941:R1220C;ENSP00000359940:R1234C	ENSP00000355010:R1229C	R	-	1	0	IGSF1	130236320	0.940000	0.31905	1.000000	0.80357	0.997000	0.91878	2.545000	0.45769	2.410000	0.81850	0.594000	0.82650	CGC		0.512	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			58	137	0	0	0	1	0	58	137					A	130408639	G	A	130408639	3	1	66	1	0	0	0	0	1	0	0	0	7596	1116	39	2	337	2	IGSF1	23	130408639	Missense_Mutation	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08	18386804	130408639	24861921	12	1260										
FAM127C	441518	broad.mit.edu	37	chrX	134156379	134156379	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaactccgggagccggtcGgtatcgccatcaaacgtctc	11	13	2	1			TCGA-RM-A68W-01A-11D-A35D-08	TCGA-RM-A68W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6c0f7a7-d270-4627-a3fa-cf8e7de87dae	c2e446cd-63be-4778-9f3c-5f7e4d1adc52	g.chrX:134156379G>T	ENST00000391440.1	-	1	180	c.111C>A	c.(109-111)acC>acA	p.T37T		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	37										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAGCCGGTCGGTATCGCCAT	0.632																																						ENST00000391440.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(109-111)acC>acA		family with sequence similarity 127, member C							84	92	89					X																	134156379		2112	4203	6315	SO:0001819	synonymous_variant	441518							g.chrX:134156379G>T	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.111C>A	X.37:g.134156379G>T							p.T37T	NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN			1	180	-	Acute lymphoblastic leukemia(192;0.000127)		37						Silent	SNP	ENST00000391440.1	37	c.111C>A	CCDS43996.1																																																																																				0.632	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		5	98	1	0	0.000602214	1	0.000602214	5	98					T	134156379	G	T	134156379	2	4	66	1	0	0	0	0	0	0	0	1	5433	1103	39	5		5	FAM127C	23	134156379	Silent	SNP	G	TCGA-RM-A68W-01A-11D-A35D-08	3747740	134156379	21114181	13	1261										
ATP1A4	480	broad.mit.edu	37	chr1	160141222	160141222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgggaggtctgggggaacGtgtgctaggtgaggagcttt	19	5	1	1			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr1:160141222G>A	ENST00000368081.4	+	11	2144	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	558					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.R558H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGGGGAACGTGTGCTAGGT	0.443																																						ENST00000368081.4																			1	Substitution - Missense(1)	p.R558H(1)	prostate(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1672-1674)cGt>cAt		ATPase, Na+/K+ transporting, alpha 4 polypeptide							70	70	70					1																	160141222		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141222G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1673G>A	1.37:g.160141222G>A	ENSP00000357060:p.Arg558His					ATP1A4_ENST00000418334.1_3'UTR	p.R558H	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	2144	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		558					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1673G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782396	0.70222	.	.	ENSG00000132681	ENST00000368081	D	0.92545	-3.06	4.43	4.43	0.53597	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96849	0.8971	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97585	1.0113	10	0.87932	D	0	.	14.9387	0.70978	0.0:0.0:1.0:0.0	.	558	Q13733	AT1A4_HUMAN	H	558	ENSP00000357060:R558H	ENSP00000357060:R558H	R	+	2	0	ATP1A4	158407846	1.000000	0.71417	0.706000	0.30403	0.410000	0.31052	9.633000	0.98432	2.458000	0.83093	0.655000	0.94253	CGT		0.443	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		12	20	0	0	0	1	0	12	20					A	160141222	G	A	160141222	3	1	67	1	0	0	0	0	1	0	0	0	1131	1145	40	1	1715	1	ATP1A4	1	160141222	Missense_Mutation	SNP	G	TCGA-RT-A6Y9-01A-12D-A35D-08		160141222	89109399	1	1262										
SLC20A1	6574	broad.mit.edu	37	chr2	113405018	113405018	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaggggcaggagggtgtcaAgtggtctgaactgataaaaa	15	4	2	2	rs191761952		TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr2:113405018A>G	ENST00000272542.3	+	3	991	c.452A>G	c.(451-453)aAg>aGg	p.K151R	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	151					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GAGGGTGTCAAGTGGTCTGAA	0.433													A|||	1	0.000199681	8e-04	0	5008	,	,		16736	0		0	False		,,,				2504	0					ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(451-453)aAg>aGg		solute carrier family 20 (phosphate transporter), member 1							189	195	193					2																	113405018		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113405018A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"Solute carriers"	10946	protein-coding gene	gene with protein product	"gibbon ape leukemia virus receptor 1"	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.452A>G	2.37:g.113405018A>G	ENSP00000272542:p.Lys151Arg						p.K151R	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN			3	991	+			151					Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.452A>G	CCDS2099.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	15.30	2.791212	0.50102	.	.	ENSG00000144136	ENST00000272542	D	0.90620	-2.7	5.49	3.12	0.35913	.	0.137480	0.64402	N	0.000004	D	0.86497	0.5947	L	0.49350	1.555	0.48901	D	0.999723	B	0.16166	0.016	B	0.23018	0.043	T	0.80398	-0.1399	10	0.72032	D	0.01	-23.7647	8.2015	0.31428	0.8346:0.0:0.1654:0.0	.	151	Q8WUM9	S20A1_HUMAN	R	151	ENSP00000272542:K151R	ENSP00000272542:K151R	K	+	2	0	SLC20A1	113121489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.227000	0.42972	0.391000	0.25143	0.533000	0.62120	AAG		0.433	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		52	79	0	0	0	1	0	52	79					G	113405018	A	G	113405018	3	3	67	1	0	0	0	0	1	0	0	0	14438	72	3	4	458	4	SLC20A1	2	113405018	Missense_Mutation	SNP	A	TCGA-RT-A6Y9-01A-12D-A35D-08		113405018	129794355	2	1263										
HDLBP	3069	broad.mit.edu	37	chr2	242187753	242187753	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caatgattagatccttggtaCgctcattttcctaaaaatac	5	9	1	2			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr2:242187753C>G	ENST00000391975.1	-	13	1750	c.1523G>C	c.(1522-1524)cGt>cCt	p.R508P	HDLBP_ENST00000391976.2_Missense_Mutation_p.R508P|HDLBP_ENST00000310931.4_Missense_Mutation_p.R508P|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000427183.2_Missense_Mutation_p.R475P	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	508	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R508H(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATCCTTGGTACGCTCATTTTC	0.458																																						ENST00000391975.1																			1	Substitution - Missense(1)	p.R508H(1)	endometrium(1)	breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1522-1524)cGt>cCt		high density lipoprotein binding protein							121	116	118					2																	242187753		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242187753C>G		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1523G>C	2.37:g.242187753C>G	ENSP00000375836:p.Arg508Pro					HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.R508P|HDLBP_ENST00000310931.4_Missense_Mutation_p.R508P|HDLBP_ENST00000427183.2_Missense_Mutation_p.R475P	p.R508P	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	13	1750	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	508			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1523G>C	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439095	0.83885	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;1.93	6.17	3.46	0.39613	K Homology (1);K Homology, type 1 (1);	0.044585	0.85682	D	0.000000	T	0.61048	0.2316	M	0.76002	2.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.935	T	0.60974	-0.7156	10	0.52906	T	0.07	-7.9844	11.7143	0.51643	0.0:0.8105:0.0:0.1895	.	475;508	E7EM71;Q00341	.;VIGLN_HUMAN	P	508;508;508;475;17	ENSP00000375836:R508P;ENSP00000375837:R508P;ENSP00000312042:R508P;ENSP00000399139:R475P;ENSP00000388876:R17P	ENSP00000312042:R508P	R	-	2	0	HDLBP	241836426	1.000000	0.71417	0.492000	0.27490	0.990000	0.78478	7.755000	0.85180	0.502000	0.28037	0.655000	0.94253	CGT		0.458	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		15	29	0	0	0	1	0	15	29					G	242187753	C	G	242187753	3	3	67	1	0	0	0	0	1	0	0	0	7025	536	19	5	2347	5	HDLBP	2	242187753	Missense_Mutation	SNP	C	TCGA-RT-A6Y9-01A-12D-A35D-08	128782735	242187753	1011620	3	1264										
MAP4	4134	broad.mit.edu	37	chr3	47958222	47958222	+	Silent	SNP	G	G	A													0	0	1	0	0	0	1	1	0	ggtcccatgtccttggaaggGgctaagtccatttttatagg							TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr3:47958222G>A	ENST00000360240.6	-	7	1613	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	MAP4_ENST00000395734.3_Silent_p.A365A|MAP4_ENST00000426837.2_Silent_p.A382A|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	365	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTTGGAAGGGGCTAAGTCCA	0.478																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1144-1146)gcC>gcT		microtubule-associated protein 4							177	177	177					3																	47958222		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958222G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1095C>T	3.37:g.47958222G>A						MAP4_ENST00000360240.6_Silent_p.A365A|MAP4_ENST00000395734.3_Silent_p.A365A|MAP4_ENST00000383737.4_Intron	p.A382A			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1233	-			365			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1146C>T	CCDS33750.1																																																																																				0.478	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	85	0	0	0	1	0	4	85					A	47958222	G	A	47958222	2	1	67	1	0	0	0	0	0	0	0	1	9258	1219	43	3		3	MAP4	3	47958222	Silent	SNP	G	TCGA-RT-A6Y9-01A-12D-A35D-08		47958222	150064208	4	1265	9	2								
MAP4	4134	broad.mit.edu	37	chr3	47958225	47958225	+	Silent	SNP	T	T	C													0	0	1	0	0	0	1	1	0	cccatgtccttggaaggggcTaagtccatttttataggaga							TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr3:47958225T>C	ENST00000360240.6	-	7	1610	c.1092A>G	c.(1090-1092)ttA>ttG	p.L364L	MAP4_ENST00000395734.3_Silent_p.L364L|MAP4_ENST00000426837.2_Silent_p.L381L|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	364	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L364L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAAGGGGCTAAGTCCATTT	0.478																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.L364L(2)	kidney(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1141-1143)ttA>ttG		microtubule-associated protein 4							179	179	179					3																	47958225		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958225T>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1092A>G	3.37:g.47958225T>C						MAP4_ENST00000360240.6_Silent_p.L364L|MAP4_ENST00000395734.3_Silent_p.L364L|MAP4_ENST00000383737.4_Intron	p.L381L			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1230	-			364			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1143A>G	CCDS33750.1																																																																																				0.478	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		4	88	0	0	0	1	0	4	88					C	47958225	T	C	47958225	2	2	67	1	0	0	0	0	0	0	0	1	9258	1519	53	4		4	MAP4	3	47958225	Silent	SNP	T	TCGA-RT-A6Y9-01A-12D-A35D-08	3	47958225	150064205	5	1266	9	2								
AVL9	23080	broad.mit.edu	37	chr7	32582854	32582854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccttgccttaccagatggCgcacacaactaccaggaagg	9	13	0	1	rs367575541		TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423																																						ENST00000318709.4																			2	Substitution - coding silent(2)	p.G65G(2)	endometrium(2)	endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(193-195)ggC>ggT		AVL9 homolog (S. cerevisiase)		C		0,4406		0,0,2203	174	143	154		195	-5.2	1	7		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AVL9	NM_015060.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		65/649	32582854	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32582854C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.195C>T	7.37:g.32582854C>T						AVL9_ENST00000404479.1_Silent_p.G65G|AVL9_ENST00000409301.1_Silent_p.G65G	p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			2	416	+			65					Q92573	Silent	SNP	ENST00000318709.4	37	c.195C>T	CCDS34613.1																																																																																				0.423	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		5	82	0	0	0	1	0	5	82					T	32582854	C	T	32582854	2	4	67	1	0	0	0	0	0	0	0	1	1228	755	27	1		1	AVL9	7	32582854	Silent	SNP	C	TCGA-RT-A6Y9-01A-12D-A35D-08		32582854	126555809	6	1267										
NKX6-3	157848	broad.mit.edu	37	chr8	41504197	41504197	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	tcttccgccacttggtcctgCggttctggaaccacacctgc							TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr8:41504197delC	ENST00000524115.2	-	2	182	c.179delG	c.(178-180)cgcfs	p.R61fs		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	191					cell fate determination (GO:0001709)|glandular epithelial cell differentiation (GO:0002067)|negative regulation of epithelial cell differentiation (GO:0030857)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGGTCCTGCGGTTCTGGAA	0.677																																						ENST00000524115.2																			0				lung(1)	1						c.(178-180)ccfs		NK6 homeobox 3							11	9	9					8																	41504197		2033	4016	6049	SO:0001589	frameshift_variant	157848					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:41504197delC	AK057898	CCDS6118.1	8p11.21	2014-08-12	2007-07-09		ENSG00000165066	ENSG00000165066		"Homeoboxes / ANTP class : NKL subclass"	26328	protein-coding gene	gene with protein product		610772	"NK6 transcription factor related, locus 3 (Drosophila)"			16326147	Standard	XM_005273422		Approved	FLJ25169	uc003xoa.2	A6NJ46	OTTHUMG00000164083	ENST00000524115.2:c.179delG	8.37:g.41504197delC	ENSP00000429553:p.Arg61fs						p.R61fs	NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	182	-	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	191					Q96LR0	Frame_Shift_Del	DEL	ENST00000524115.2	37	c.179delG	CCDS6118.1																																																																																				0.677	NKX6-3-002	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000377166.2	NM_152568		2	4						2	4	---	---	---	---	-	41504197	C	-	41504197	7	5	67	1	0	1	0	1	0	0	0	0	10459	768	27	0	232	0	NKX6-3	8	41504197	Frame_Shift_Del	DEL	C	TCGA-RT-A6Y9-01A-12D-A35D-08		41504197	104859825	7	1268										
BAT2L1	84726	broad.mit.edu	37	chr9	134357838	134357838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtctgcgacctcctcgcaGcgcagctccccatatgggac	10	17	1	0			TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chr9:134357838G>A	ENST00000357304.4	+	20	5119	c.5064G>A	c.(5062-5064)caG>caA	p.Q1688Q	PRRC2B_ENST00000405995.1_Silent_p.Q994Q|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.Q994Q	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1688							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCTCCTCGCAGCGCAGCTCCC	0.612																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(5062-5064)caG>caA		proline-rich coiled-coil 2B							113	119	117					9																	134357838		1968	4153	6121	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134357838G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5064G>A	9.37:g.134357838G>A						PRRC2B_ENST00000405995.1_Silent_p.Q994Q|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.Q994Q	p.Q1688Q	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			20	5119	+			1688					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.5064G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	8.652	0.898417	0.17686	.	.	ENSG00000130723	ENST00000451855	.	.	.	4.92	4.02	0.46733	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55121	-0.8190	4	.	.	.	-33.0147	8.5002	0.33152	0.1752:0.0:0.8248:0.0	.	.	.	.	T	421	.	.	A	+	1	0	PRRC2B	133347659	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	3.101000	0.50283	1.068000	0.40764	0.561000	0.74099	GCG		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	87	0	0	0	1	0	9	87					A	134357838	G	A	134357838	2	1	67	1	0	0	0	0	0	0	0	1	1320	962	34	3		3	BAT2L1	9	134357838	Silent	SNP	G	TCGA-RT-A6Y9-01A-12D-A35D-08		134357838	6855593	8	1269										
STAG2	10735	broad.mit.edu	37	chrX	123171406	123171407	+	Frame_Shift_Ins	INS	-	-	A													0	0	1	0	0	0	1	1	0	atgattggatagaatcatacINSaagcatgaccgagatatagc							TCGA-RT-A6Y9-01A-12D-A35D-08	TCGA-RT-A6Y9-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f381cc40-8e51-4922-ac81-66b18cc1cba5	94f22612-3815-4738-9c53-6503f1207146	g.chrX:123171406_123171407insA	ENST00000371160.1	+	6	608_609	c.318_319insA	c.(319-321)aagfs	p.K107fs	STAG2_ENST00000354548.5_Frame_Shift_Ins_p.K38fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.K107fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.K107fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	107					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAGAATCATACAAGCATGACCG	0.327																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(316-321)taagcafs		stromal antigen 2																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123171406_123171407insA	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.320dupA	X.37:g.123171408_123171408dupA	ENSP00000360202:p.Lys107fs					STAG2_ENST00000371144.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.A107fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.A38fs	p.A107fs			Q8N3U4	STAG2_HUMAN			6	608_609	+			107					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Ins	INS	ENST00000371160.1	37	c.318_319insA	CCDS14607.1																																																																																				0.327	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		47	62						47	62	---	---	---	---	A	123171407	-	A	123171406	7	5	67	1	0	1	1	0	0	0	0	0	15242	489	17	0	332	0	STAG2	23	123171406	Frame_Shift_Ins	INS	-	TCGA-RT-A6Y9-01A-12D-A35D-08		123171406	32099154	9	1270										
PADI2	11240	broad.mit.edu	37	chr1	17395638	17395638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtggtaggcagaaatgtcGtcgatgaaggtgcattcgag	15	5	0	2	rs61731909	byFrequency	TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr1:17395638G>A	ENST00000375486.4	-	16	1962	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.D517D	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGAAATGTCGTCGATGAAGG	0.597													G|||	2	0.000399361	0	0	5008	,	,		21555	0.001		0	False		,,,				2504	0.001					ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1897-1899)gaC>gaT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)	G		2,4404	4.2+/-10.8	0,2,2201	115	105	108		1899	-8.4	0.4	1	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	PADI2	NM_007365.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		633/666	17395638	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395638G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1899C>T	1.37:g.17395638G>A						PADI2_ENST00000444885.2_Silent_p.D517D|PADI2_ENST00000466151.1_5'UTR	p.D633D	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	1962	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	633					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1899C>T	CCDS177.1																																																																																				0.597	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			16	53	0	0	0	1	0	16	53					A	17395638	G	A	17395638	2	1	68	1	0	0	0	0	0	0	0	1	11378	1136	40	1		1	PADI2	1	17395638	Silent	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		17395638	231854983	1	1271										
ARHGAP30	257106	broad.mit.edu	37	chr1	161039405	161039405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cttcttctttcctttctgccGagacttcatggccagagccc	7	15	4	2	rs149081252		TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr1:161039405G>A	ENST00000368013.3	-	1	330	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R4W|ARHGAP30_ENST00000368015.1_Intron|PVRL4_ENST00000486694.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	4					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTTTCTGCCGAGACTTCATG	0.637																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(10-12)Cgg>Tgg		Rho GTPase activating protein 30		G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	90	83	85		10,10	4.6	1	1	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	4/1102,4/891	161039405	2,13004	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161039405G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.10C>T	1.37:g.161039405G>A	ENSP00000356992:p.Arg4Trp					ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R4W	p.R4W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		1	330	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		4					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.10C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866667	0.72065	4.54E-4	0.0	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.15139	2.6;2.45	4.64	4.64	0.57946	Rho GTPase-activating protein domain (1);	0.069143	0.56097	D	0.000040	T	0.26629	0.0651	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	T	0.01242	-1.1408	10	0.87932	D	0	.	12.876	0.57989	0.0:0.0:1.0:0.0	.	4;4	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	W	4	ENSP00000356995:R4W;ENSP00000356992:R4W	ENSP00000356992:R4W	R	-	1	2	ARHGAP30	159306029	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.535000	0.53575	2.376000	0.81061	0.655000	0.94253	CGG		0.637	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		6	66	0	0	0	1	0	6	66					A	161039405	G	A	161039405	3	1	68	1	0	0	0	0	1	0	0	0	879	1057	37	2	3343	2	ARHGAP30	1	161039405	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	143643767	161039405	88211216	2	1272										
GLT25D2	23127	broad.mit.edu	37	chr1	183914685	183914685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attcagtgccttcagctggcTtgtgttgagtgccctgcatc	11	11	2	1			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr1:183914685T>G	ENST00000361927.4	-	9	1521	c.1150A>C	c.(1150-1152)Agc>Cgc	p.S384R	COLGALT2_ENST00000546159.1_Missense_Mutation_p.S384R|COLGALT2_ENST00000367521.1_5'UTR|COLGALT2_ENST00000367520.3_Missense_Mutation_p.S121R	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	384					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TTCAGCTGGCTTGTGTTGAGT	0.488																																						ENST00000361927.4																			0											c.(1150-1152)Agc>Cgc		collagen beta(1-O)galactosyltransferase 2							131	128	129					1																	183914685		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183914685T>G	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1150A>C	1.37:g.183914685T>G	ENSP00000354960:p.Ser384Arg					COLGALT2_ENST00000546159.1_Missense_Mutation_p.S384R|COLGALT2_ENST00000367520.3_Missense_Mutation_p.S121R|COLGALT2_ENST00000367521.1_5'UTR	p.S384R	NM_015101.2	NP_055916.1					9	1521	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1150A>C	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029135	0.75504	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.78924	-1.21;-1.22	5.39	5.39	0.77823	.	0.147534	0.64402	D	0.000010	D	0.87661	0.6233	M	0.77712	2.385	0.53688	D	0.999975	D;D;D	0.76494	0.999;0.996;0.998	D;D;D	0.75020	0.967;0.985;0.985	D	0.88868	0.3331	10	0.59425	D	0.04	-16.0238	15.3979	0.74812	0.0:0.0:0.0:1.0	.	384;384;121	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	R	384;384;121	ENSP00000439112:S384R;ENSP00000354960:S384R	ENSP00000354960:S384R	S	-	1	0	GLT25D2	182181308	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.788000	0.62439	2.042000	0.60477	0.455000	0.32223	AGC		0.488	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		41	56	0	0	0	1	0	41	56					G	183914685	T	G	183914685	3	3	68	1	0	0	0	0	1	0	0	0	6467	1609	56	5	746	5	GLT25D2	1	183914685	Missense_Mutation	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08	22875280	183914685	65335936	3	1273										
ASTL	431705	broad.mit.edu	37	chr2	96789863	96789863	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actcccacccatgtgggctcTccccaggccctgcaggaacg	10	18	1	0			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr2:96789863T>A	ENST00000342380.2	-	9	1021	c.1022A>T	c.(1021-1023)gAg>gTg	p.E341V		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATGTGGGCTCTCCCCAGGCCC	0.652																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(1021-1023)gAg>gTg		astacin-like metallo-endopeptidase (M12 family)							42	47	45					2																	96789863		2203	4299	6502	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789863T>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1022A>T	2.37:g.96789863T>A	ENSP00000343674:p.Glu341Val						p.E341V	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	1021	-			341						Missense_Mutation	SNP	ENST00000342380.2	37	c.1022A>T	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324970	0.41197	.	.	ENSG00000188886	ENST00000342380	T	0.68765	-0.35	4.77	3.61	0.41365	.	1.101640	0.07105	N	0.841237	T	0.53802	0.1819	L	0.27053	0.805	0.09310	N	1	B	0.32693	0.38	B	0.32533	0.147	T	0.50533	-0.8817	10	0.87932	D	0	-8.975	6.5764	0.22569	0.0:0.1081:0.0:0.8919	.	341	Q6HA08	ASTL_HUMAN	V	341	ENSP00000343674:E341V	ENSP00000343674:E341V	E	-	2	0	ASTL	96153590	0.044000	0.20184	0.173000	0.22940	0.030000	0.12068	0.526000	0.22971	1.919000	0.55581	0.454000	0.30748	GAG		0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			4	75	0	0	0	1	0	4	75					A	96789863	T	A	96789863	3	1	68	1	0	0	0	0	1	0	0	0	1063	1551	54	5	276	5	ASTL	2	96789863	Missense_Mutation	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08		96789863	146409510	4	1274										
LCT	3938	broad.mit.edu	37	chr2	136564823	136564823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgtagtacctggcggaggCtcttgctgtgcgaggcctgt	16	9	1	0			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr2:136564823C>T	ENST00000264162.2	-	9	4058	c.4048G>A	c.(4048-4050)Gcc>Acc	p.A1350T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1350	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGGCGGAGGCTCTTGCTGTG	0.517																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4048-4050)Gcc>Acc		lactase							218	169	185					2																	136564823		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136564823C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4048G>A	2.37:g.136564823C>T	ENSP00000264162:p.Ala1350Thr						p.A1350T	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	9	4058	-			1350			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.4048G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330312	0.24167	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.32753	1.44	5.87	-0.469	0.12142	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.849281	0.11193	N	0.589663	T	0.17831	0.0428	L	0.31926	0.97	0.19575	N	0.999963	B	0.06786	0.001	B	0.11329	0.006	T	0.37220	-0.9715	10	0.07644	T	0.81	-7.0941	7.39	0.26905	0.0:0.3094:0.188:0.5026	.	1350	P09848	LPH_HUMAN	T	1350;782	ENSP00000264162:A1350T	ENSP00000264162:A1350T	A	-	1	0	LCT	136281293	0.990000	0.36364	0.990000	0.47175	0.922000	0.55478	0.558000	0.23469	-0.187000	0.10516	-0.797000	0.03246	GCC		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		7	61	0	0	0	1	0	7	61					T	136564823	C	T	136564823	3	4	68	1	0	0	0	0	1	0	0	0	8693	797	28	3	1771	3	LCT	2	136564823	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08	39774960	136564823	106634550	5	1275										
SLC12A8	84561	broad.mit.edu	37	chr3	124854521	124854521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattacaatacctgtagccGctgggaagaaaaccccaaag	9	10	0	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr3:124854521G>A	ENST00000393469.4	-	5	777	c.728C>T	c.(727-729)gCg>gTg	p.A243V	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.A272V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.A243V	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	243					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ACCTGTAGCCGCTGGGAAGAA	0.448																																						ENST00000423114.2																			0				endometrium(2)|kidney(2)|lung(12)	16						c.(814-816)gCg>gTg		solute carrier family 12, member 8							52	52	52					3																	124854521		1842	4089	5931	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124854521G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.728C>T	3.37:g.124854521G>A	ENSP00000377112:p.Ala243Val					SLC12A8_ENST00000393469.4_Missense_Mutation_p.A243V|SLC12A8_ENST00000469902.1_Missense_Mutation_p.A243V|SLC12A8_ENST00000314584.7_5'UTR	p.A272V			A0AV02	S12A8_HUMAN			6	814	-			243					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.815C>T	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.689803	0.88735	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000479826	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.14	5.14	0.70334	Amino acid permease domain (1);	.	.	.	.	D	0.99330	0.9765	M	0.90650	3.135	0.80722	D	1	D;P;D	0.89917	1.0;0.899;0.995	D;P;P	0.67382	0.951;0.559;0.892	D	0.98832	1.0751	9	0.87932	D	0	.	15.6479	0.77068	0.0:0.0:1.0:0.0	.	135;272;243	B5MDT1;A0AV02-2;A0AV02	.;.;S12A8_HUMAN	V	243;272;243;125	ENSP00000377112:A243V;ENSP00000404243:A272V;ENSP00000418783:A243V;ENSP00000420197:A125V	ENSP00000377112:A243V	A	-	2	0	SLC12A8	126337211	1.000000	0.71417	0.807000	0.32361	0.920000	0.55202	6.401000	0.73256	2.664000	0.90586	0.550000	0.68814	GCG		0.448	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		4	12	0	0	0	1	0	4	12					A	124854521	G	A	124854521	3	1	68	1	0	0	0	0	1	0	0	0	14389	1087	38	1	1452	1	SLC12A8	3	124854521	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		124854521	73167909	6	1276										
KBTBD2	25948	broad.mit.edu	37	chr7	32910344	32910344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgcgtcctgatgatacacaGcagtgaacttgtgctccacc	9	13	0	3			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr7:32910344G>A	ENST00000304056.4	-	4	1184	c.485C>T	c.(484-486)gCt>gTt	p.A162V	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	162										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATGATACACAGCAGTGAACTT	0.398																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(484-486)gCt>gTt		kelch repeat and BTB (POZ) domain containing 2							123	113	116					7																	32910344		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32910344G>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.485C>T	7.37:g.32910344G>A	ENSP00000302586:p.Ala162Val					AVL9_ENST00000404479.1_Intron	p.A162V	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1184	-			162					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.485C>T	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	6.697	0.497327	0.12762	.	.	ENSG00000170852	ENST00000304056	T	0.69685	-0.42	5.72	3.93	0.45458	BTB/Kelch-associated (2);	0.195495	0.53938	N	0.000042	T	0.50888	0.1642	N	0.17764	0.52	0.33491	D	0.588663	B	0.06786	0.001	B	0.04013	0.001	T	0.56571	-0.7957	10	0.44086	T	0.13	.	12.6831	0.56932	0.1336:0.0:0.8664:0.0	.	162	Q8IY47	KBTB2_HUMAN	V	162	ENSP00000302586:A162V	ENSP00000302586:A162V	A	-	2	0	KBTBD2	32876869	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.864000	0.48404	0.897000	0.36392	0.655000	0.94253	GCT		0.398	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		9	73	0	0	0	1	0	9	73					A	32910344	G	A	32910344	3	1	68	1	0	0	0	0	1	0	0	0	7993	971	34	3	1390	3	KBTBD2	7	32910344	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		32910344	126228319	7	1277										
CSMD1	64478	broad.mit.edu	37	chr8	2815310	2815310	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	ggtagccttttctgcacctgAaaaaaaccgtgcttccaacc							TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr8:2815310delA	ENST00000520002.1	-	64	10280	c.9725delT	c.(9724-9726)ttcfs	p.F3242fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.F3241fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.F3065fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.F3065fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.F3064fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.F3242fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3242	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGCACCTGAAAAAAACCGT	0.453																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9724-9726)tcfs		CUB and Sushi multiple domains 1							84	76	78					8																	2815310		1899	4120	6019	SO:0001589	frameshift_variant	64478					integral to membrane		g.chr8:2815310delA			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9725delT	8.37:g.2815310delA	ENSP00000430733:p.Phe3242fs					CSMD1_ENST00000602723.1_Frame_Shift_Del_p.F3065fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.F3241fs|CSMD1_ENST00000520002.1_Frame_Shift_Del_p.F3242fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.F3064fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.F3065fs	p.F3242fs			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	64	10280	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3242			Sushi 27.		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	ENST00000520002.1	37	c.9725delT																																																																																					0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		2	4						2	4	---	---	---	---	-	2815310	A	-	2815310	7	5	68	1	0	1	0	1	0	0	0	0	3944	246	9	0	1004	0	CSMD1	8	2815310	Frame_Shift_Del	DEL	A	TCGA-RT-A6YA-01A-12D-A35D-08		2815310	143548712	8	1278										
DGAT2	84649	broad.mit.edu	37	chr11	75509417	75509417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatcttccatggtcgaggcCtcttctcctccgacacctgg	9	16	3	0			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr11:75509417C>T	ENST00000228027.7	+	7	1215	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	RP11-535A19.1_ENST00000534354.1_RNA|DGAT2_ENST00000376262.3_Missense_Mutation_p.L276F	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	319					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					TGGTCGAGGCCTCTTCTCCTC	0.587																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(955-957)Ctc>Ttc		diacylglycerol O-acyltransferase 2							82	70	74					11																	75509417		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75509417C>T		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"diacylglycerol O-acyltransferase homolog 2 (mouse)"			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.955C>T	11.37:g.75509417C>T	ENSP00000228027:p.Leu319Phe					DGAT2_ENST00000376262.3_Missense_Mutation_p.L276F	p.L319F	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN			7	1215	+	Ovarian(111;0.103)		319					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.955C>T	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420812	0.42918	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.15952	2.38;2.38	5.59	-2.85	0.05734	.	0.374334	0.30686	N	0.009086	T	0.03827	0.0108	N	0.01297	-0.9	0.47905	D	0.999543	B;B	0.19935	0.04;0.004	B;B	0.21546	0.035;0.007	T	0.35076	-0.9803	10	0.29301	T	0.29	-9.7641	2.8998	0.05701	0.1109:0.3521:0.1091:0.428	.	276;319	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	F	319;276;273	ENSP00000228027:L319F;ENSP00000365438:L276F	ENSP00000228027:L319F	L	+	1	0	DGAT2	75187065	0.997000	0.39634	0.974000	0.42286	0.991000	0.79684	0.718000	0.25866	-0.441000	0.07201	-0.150000	0.13652	CTC		0.587	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		6	28	0	0	0	1	0	6	28					T	75509417	C	T	75509417	3	4	68	1	0	0	0	0	1	0	0	0	4458	681	24	3	981	3	DGAT2	11	75509417	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08		75509417	59497099	9	1279										
FOXM1	2305	broad.mit.edu	37	chr12	2970493	2970493	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagaaagataaaattaaacAagctggtgatgggtgtacca	10	4	0	3			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:2970493A>G	ENST00000359843.3	-	9	1335				FOXM1_ENST00000342628.2_Missense_Mutation_p.L451S|FOXM1_ENST00000361953.3_Intron|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1						cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			aaaattaaacaagctggtgat	0.363																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1351-1353)tTg>tCg		forkhead box M1							71	66	68					12																	2970493		2203	4300	6503	SO:0001627	intron_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2970493A>G	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1267-1664T>C	12.37:g.2970493A>G						FOXM1_ENST00000361953.3_Intron|FOXM1_ENST00000359843.3_Intron	p.L451S	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		9	1465	-			422					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1352T>C	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296105	0.23650	.	.	ENSG00000111206	ENST00000342628	D	0.94184	-3.37	0.865	0.865	0.19074	.	.	.	.	.	D	0.92116	0.7501	.	.	.	0.33007	D	0.527072	D	0.62365	0.991	D	0.65323	0.934	D	0.87995	0.2752	8	0.13470	T	0.59	.	3.9806	0.09493	1.0:0.0:0.0:0.0	.	451	Q08050-3	.	S	451	ENSP00000342307:L451S	ENSP00000342307:L451S	L	-	2	0	FOXM1	2840754	0.006000	0.16342	0.494000	0.27515	0.036000	0.12997	-0.007000	0.12810	0.637000	0.30526	0.164000	0.16699	TTG		0.363	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		6	24	0	0	0	1	0	6	24					G	2970493	A	G	2970493	1	3	68	0	1	0	0	0	0	0	0	0	6018	131	5	4		4	FOXM1	12	2970493	Intron	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08		2970493	130881402	10	1280										
ARID2	196528	broad.mit.edu	37	chr12	46246107	46246107	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaccacaagggactttagatAtcactcagcaagatactgcc	7	11	2	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:46246107A>C	ENST00000334344.6	+	15	4373	c.4201A>C	c.(4201-4203)Atc>Ctc	p.I1401L	ARID2_ENST00000444670.1_Missense_Mutation_p.I1011L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.I1252L|ARID2_ENST00000457135.1_Missense_Mutation_p.I9L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1401					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACTTTAGATATCACTCAGCA	0.383			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4201-4203)Atc>Ctc		AT rich interactive domain 2 (ARID, RFX-like)							70	69	69					12																	46246107		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246107A>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4201A>C	12.37:g.46246107A>C	ENSP00000335044:p.Ile1401Leu					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.I9L|ARID2_ENST00000422737.1_Missense_Mutation_p.I1252L|ARID2_ENST00000444670.1_Missense_Mutation_p.I1011L	p.I1401L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4373	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1401					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4201A>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	1.337	-0.595237	0.03771	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.27557	1.66	6.07	3.19	0.36642	.	0.456013	0.26891	N	0.021979	T	0.12305	0.0299	N	0.03608	-0.345	0.21147	N	0.999775	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.19745	-1.0296	10	0.34782	T	0.22	0.0677	6.1414	0.20261	0.2036:0.0:0.6652:0.1312	.	1401;1011;1401	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	L	1401;518;518;1252;1011;9	ENSP00000335044:I1401L	ENSP00000335044:I1401L	I	+	1	0	ARID2	44532374	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	1.618000	0.36954	0.451000	0.26802	-0.177000	0.13119	ATC		0.383	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	50	0	0	0	1	0	7	50					C	46246107	A	C	46246107	3	2	68	1	0	0	0	0	1	0	0	0	915	449	16	5	4259	5	ARID2	12	46246107	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08	43275614	46246107	87605788	11	1281										
FGD6	55785	broad.mit.edu	37	chr12	95604019	95604019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttcagtaagacaggaagaGctactgtctgaattccccgg	10	9	2	3			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:95604019G>C	ENST00000343958.4	-	2	1264	c.1041C>G	c.(1039-1041)agC>agG	p.S347R	FGD6_ENST00000546711.1_Missense_Mutation_p.S347R|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.S347R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	347	Poly-Ser.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GACAGGAAGAGCTACTGTCTG	0.418																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1039-1041)agC>agG		FYVE, RhoGEF and PH domain containing 6							105	107	106					12																	95604019		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604019G>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1041C>G	12.37:g.95604019G>C	ENSP00000344446:p.Ser347Arg					FGD6_ENST00000546711.1_Missense_Mutation_p.S347R|FGD6_ENST00000549499.1_Missense_Mutation_p.S347R	p.S347R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			2	1264	-			347			Poly-Ser.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1041C>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054051	0.19907	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.67345	-0.16;-0.26;-0.18	5.71	5.71	0.89125	.	0.947990	0.08799	N	0.892073	T	0.55970	0.1954	N	0.22421	0.69	0.09310	N	1	B	0.28128	0.201	B	0.26969	0.075	T	0.49808	-0.8900	10	0.66056	D	0.02	0.0064	11.7743	0.51977	0.0869:0.0:0.9131:0.0	.	347	Q6ZV73	FGD6_HUMAN	R	347	ENSP00000344446:S347R;ENSP00000450342:S347R;ENSP00000449005:S347R	ENSP00000344446:S347R	S	-	3	2	FGD6	94128150	0.976000	0.34144	0.107000	0.21349	0.595000	0.36748	2.837000	0.48191	2.684000	0.91462	0.561000	0.74099	AGC		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		35	46	0	0	0	1	0	35	46					C	95604019	G	C	95604019	3	2	68	1	0	0	0	0	1	0	0	0	5837	962	34	5	3331	5	FGD6	12	95604019	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	49357912	95604019	38247876	12	1282										
ATXN2	6311	broad.mit.edu	37	chr12	111894043	111894043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccagatggagagcctgggcGgcctggtgctgatggtgctg	19	9	0	3			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr12:111894043G>A	ENST00000377617.3	-	23	3695	c.3534C>T	c.(3532-3534)gcC>gcT	p.A1178A	ATXN2_ENST00000389153.4_Silent_p.A915A|ATXN2_ENST00000542287.2_Silent_p.A913A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.A871A|ATXN2_ENST00000608853.1_Silent_p.A1018A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1178					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGCCTGGGCGGCCTGGTGCT	0.552																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3532-3534)gcC>gcT		ataxin 2							135	126	129					12																	111894043		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111894043G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3534C>T	12.37:g.111894043G>A						ATXN2_ENST00000535949.1_Silent_p.A871A|ATXN2_ENST00000389153.4_Silent_p.A915A|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Silent_p.A913A	p.A1178A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			23	3695	-			1178					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3534C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143230	0.37825	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.95	-5.31	0.02730	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57625	-0.7779	5	0.87932	D	0	-9.3575	1.933	0.03331	0.473:0.1142:0.1187:0.2941	.	.	.	.	L	63	.	ENSP00000449162:P63L	P	-	2	0	ATXN2	110378426	0.018000	0.18449	0.932000	0.37286	0.981000	0.71138	-0.906000	0.04071	-0.853000	0.04136	-1.149000	0.01842	CCG		0.552	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		10	103	0	0	0	1	0	10	103					A	111894043	G	A	111894043	2	1	68	1	0	0	0	0	0	0	0	1	1211	1103	39	2		2	ATXN2	12	111894043	Silent	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	16290024	111894043	21957852	13	1283										
IRF9	10379	broad.mit.edu	37	chr14	24633826	24633826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgttctatccccagactActcactgctgctcaccttca	6	16	4	1	rs569115226		TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr14:24633826A>G	ENST00000396864.3	+	7	940	c.653A>G	c.(652-654)tAc>tGc	p.Y218C	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.Y116C	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	218					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TCCCCAGACTACTCACTGCTG	0.642													A|||	1	0.000199681	8e-04	0	5008	,	,		18512	0		0	False		,,,				2504	0					ENST00000396864.3																			0				NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(652-654)tAc>tGc		interferon regulatory factor 9							83	83	83					14																	24633826		2202	4295	6497	SO:0001583	missense	10379				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr14:24633826A>G	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.653A>G	14.37:g.24633826A>G	ENSP00000380073:p.Tyr218Cys					RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.Y116C	p.Y218C	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN		GBM - Glioblastoma multiforme(265;0.00853)	7	940	+			218					D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	c.653A>G	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639555	0.47153	.	.	ENSG00000213928	ENST00000396864	D	0.94897	-3.55	5.32	1.39	0.22231	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.177258	0.37530	U	0.002055	D	0.92388	0.7584	L	0.37850	1.14	0.34445	D	0.700012	D	0.65815	0.995	P	0.60236	0.871	D	0.89878	0.4028	10	0.33141	T	0.24	-16.9105	4.0443	0.09766	0.5917:0.0:0.089:0.3193	.	218	Q00978	IRF9_HUMAN	C	218	ENSP00000380073:Y218C	ENSP00000380073:Y218C	Y	+	2	0	IRF9	23703666	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.681000	0.25320	0.404000	0.25506	0.460000	0.39030	TAC		0.642	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			16	100	0	0	0	1	0	16	100					G	24633826	A	G	24633826	3	3	68	1	0	0	0	0	1	0	0	0	7837	391	14	4	675	4	IRF9	14	24633826	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08		24633826	82715714	14	1284										
TDRD9	122402	broad.mit.edu	37	chr14	104473169	104473169	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtgactgtattgcacttgTtgaggcatttaaagtaagtt	11	4	0	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr14:104473169T>C	ENST00000409874.4	+	18	2042	c.1994T>C	c.(1993-1995)gTt>gCt	p.V665A	TDRD9_ENST00000339063.5_Missense_Mutation_p.V665A	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	665					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCACTTGTTGAGGCATTT	0.358																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(1993-1995)gTt>gCt		tudor domain containing 9							73	64	67					14																	104473169		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104473169T>C	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1994T>C	14.37:g.104473169T>C	ENSP00000387303:p.Val665Ala					TDRD9_ENST00000339063.5_Missense_Mutation_p.V665A	p.V665A	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN			18	2042	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	665					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.1994T>C	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826620	0.71143	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.02656	4.21;4.21	5.37	5.37	0.77165	Helicase-associated domain (1);	0.089497	0.46758	D	0.000264	T	0.08447	0.0210	M	0.62723	1.935	0.58432	D	0.999999	P;B	0.52061	0.95;0.16	P;B	0.49999	0.628;0.314	T	0.01748	-1.1282	10	0.87932	D	0	.	15.3623	0.74487	0.0:0.0:0.0:1.0	.	665;665	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	A	665	ENSP00000387303:V665A;ENSP00000343545:V665A	ENSP00000343545:V665A	V	+	2	0	TDRD9	103542922	0.997000	0.39634	0.225000	0.23894	0.854000	0.48673	3.957000	0.56730	2.023000	0.59567	0.455000	0.32223	GTT		0.358	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		4	10	0	0	0	1	0	4	10					C	104473169	T	C	104473169	3	2	68	1	0	0	0	0	1	0	0	0	15733	1725	60	4	2064	4	TDRD9	14	104473169	Missense_Mutation	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08	79839343	104473169	2876371	15	1285										
MYO5C	55930	broad.mit.edu	37	chr15	52488561	52488561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctccttggcatcactgtctGtggtcttcttgacctgaagc	9	12	5	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr15:52488561G>A	ENST00000261839.7	-	39	5101	c.4940C>T	c.(4939-4941)aCa>aTa	p.T1647I	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1647	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATCACTGTCTGTGGTCTTCTT	0.512																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4939-4941)aCa>aTa		myosin VC							110	114	113					15																	52488561		2007	4168	6175	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52488561G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4940C>T	15.37:g.52488561G>A	ENSP00000261839:p.Thr1647Ile					RP11-430B1.2_ENST00000560518.1_lincRNA	p.T1647I	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	39	5101	-			1647			Dilute.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.4940C>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724473	0.89298	.	.	ENSG00000128833	ENST00000261839	D	0.89746	-2.56	4.83	4.83	0.62350	Dilute (1);Dil domain (1);	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95163	0.8283	10	0.72032	D	0.01	.	18.1264	0.89587	0.0:0.0:1.0:0.0	.	1647	Q9NQX4	MYO5C_HUMAN	I	1647	ENSP00000261839:T1647I	ENSP00000261839:T1647I	T	-	2	0	MYO5C	50275853	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	9.657000	0.98554	2.522000	0.85027	0.462000	0.41574	ACA		0.512	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		7	42	0	0	0	1	0	7	42					A	52488561	G	A	52488561	3	1	68	1	0	0	0	0	1	0	0	0	10080	1377	48	3	300	3	MYO5C	15	52488561	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		52488561	50042831	16	1286										
SEC14L5	9717	broad.mit.edu	37	chr16	5057420	5057420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaagaggagcaggagcacaCggaccagctgtggcagtgga	17	8	0	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr16:5057420C>T	ENST00000251170.7	+	13	1685	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	502						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAGGAGCACACGGACCAGCTG	0.647																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1504-1506)aCg>aTg		SEC14-like 5 (S. cerevisiae)							44	47	46					16																	5057420		2080	4203	6283	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5057420C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1505C>T	16.37:g.5057420C>T	ENSP00000251170:p.Thr502Met						p.T502M	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			13	1685	+			502						Missense_Mutation	SNP	ENST00000251170.7	37	c.1505C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844213	0.16963	.	.	ENSG00000103184	ENST00000251170	T	0.70631	-0.5	4.82	3.86	0.44501	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.410645	0.22883	N	0.054496	T	0.57021	0.2025	N	0.22421	0.69	0.09310	N	1	P	0.38473	0.633	B	0.36378	0.223	T	0.53244	-0.8466	10	0.49607	T	0.09	-25.3283	14.263	0.66097	0.1566:0.8434:0.0:0.0	.	502	O43304	S14L5_HUMAN	M	502	ENSP00000251170:T502M	ENSP00000251170:T502M	T	+	2	0	SEC14L5	4997421	0.007000	0.16637	0.001000	0.08648	0.049000	0.14656	2.221000	0.42917	1.234000	0.43709	0.555000	0.69702	ACG		0.647	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			12	14	0	0	0	1	0	12	14					T	5057420	C	T	5057420	3	4	68	1	0	0	0	0	1	0	0	0	13985	536	19	1	1551	1	SEC14L5	16	5057420	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08		5057420	85297333	17	1287										
RLTPR	146206	broad.mit.edu	37	chr16	67680391	67680391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gctggagagaagcagcccctCggagtccactgacccctgca	12	15	0	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr16:67680391C>T	ENST00000334583.6	+	6	765	c.437C>T	c.(436-438)tCg>tTg	p.S146L	RLTPR_ENST00000545661.1_Missense_Mutation_p.S146L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	146					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGCAGCCCCTCGGAGTCCACT	0.652																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(436-438)tCg>tTg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							43	49	47					16																	67680391		1949	4158	6107	SO:0001583	missense	146206							g.chr16:67680391C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.437C>T	16.37:g.67680391C>T	ENSP00000334958:p.Ser146Leu					RLTPR_ENST00000545661.1_Missense_Mutation_p.S146L	p.S146L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	6	765	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	146					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.437C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	4.560	0.104001	0.08731	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.14766	2.54;2.48	4.87	-0.84	0.10755	.	3.336290	0.02247	N	0.066329	T	0.12220	0.0297	L	0.32530	0.975	0.09310	N	1	B;B	0.16396	0.0;0.017	B;B	0.10450	0.0;0.005	T	0.33979	-0.9847	10	0.23302	T	0.38	-7.4372	10.0101	0.41981	0.0:0.5638:0.0:0.4362	.	146;146	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	L	146	ENSP00000334958:S146L;ENSP00000441481:S146L	ENSP00000334958:S146L	S	+	2	0	RLTPR	66237892	0.000000	0.05858	0.272000	0.24630	0.002000	0.02628	-0.546000	0.06062	0.008000	0.14787	-1.149000	0.01842	TCG		0.652	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		4	63	0	0	0	1	0	4	63					T	67680391	C	T	67680391	3	4	68	1	0	0	0	0	1	0	0	0	13394	893	31	2	459	2	RLTPR	16	67680391	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08	62622971	67680391	22674362	18	1288										
NF1	4763	broad.mit.edu	37	chr17	29556992	29556992	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatgatgttaaatctggtcaGgtaagcattctactgaaatg	9	5	3	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr17:29556992G>C	ENST00000358273.4	+	22	3373	c.2990G>C	c.(2989-2991)aGg>aCg	p.R997T	NF1_ENST00000356175.3_Splice_Site_p.R997T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	997					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R997K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCTGGTCAGGTAAGCATTC	0.353			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	p.0?(8)|p.?(4)|p.R997K(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e22+1		neurofibromin 1							86	86	86					17																	29556992		2201	4298	6499	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556992G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2990+1G>C	17.37:g.29556992G>C		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site_p.R997_splice	p.R997_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3373	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	997					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.2990_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	32	5.138451	0.94560	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.10382	3.05;3.19;2.88	5.46	5.46	0.80206	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.981;0.983	D;D;D;P	0.91635	0.999;0.94;0.962;0.908	T	0.05146	-1.0903	10	0.56958	D	0.05	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	997;47;997;997	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	T	997;997;663	ENSP00000351015:R997T;ENSP00000348498:R997T;ENSP00000389907:R663T	ENSP00000348498:R997T	R	+	2	0	NF1	26581118	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.434000	0.97515	2.550000	0.86006	0.455000	0.32223	AGG		0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Missense_Mutation	37	11	0	0	0	1	0	37	11					C	29556992	G	C	29556992	5	2	68	1	0	0	0	0	0	0	1	0	10356	1014	35	5	3137	5	NF1	17	29556992	Splice_Site	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		29556992	51638218	19	1289										
FBXL20	84961	broad.mit.edu	37	chr17	37420555	37420555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggcagttgtccagctcaAtcacctccagctggtcatgg	12	12	3	0			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr17:37420555A>G	ENST00000264658.6	-	14	1336	c.1076T>C	c.(1075-1077)aTt>aCt	p.I359T	FBXL20_ENST00000583610.1_Missense_Mutation_p.I359T|FBXL20_ENST00000577399.1_Missense_Mutation_p.I361T|FBXL20_ENST00000394294.3_Missense_Mutation_p.I327T	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	359					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTCCAGCTCAATCACCTCCAG	0.522																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1075-1077)aTt>aCt		F-box and leucine-rich repeat protein 20							114	95	102					17																	37420555		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37420555A>G	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1076T>C	17.37:g.37420555A>G	ENSP00000264658:p.Ile359Thr					FBXL20_ENST00000577399.1_Missense_Mutation_p.I361T|FBXL20_ENST00000394294.3_Missense_Mutation_p.I327T|FBXL20_ENST00000583610.1_Missense_Mutation_p.I359T	p.I359T	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1336	-			359					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.1076T>C	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504822	0.85176	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.56103	0.48;0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.46157	1.445	0.80722	D	1	P;P	0.39862	0.692;0.57	B;B	0.33620	0.167;0.071	T	0.53697	-0.8402	10	0.87932	D	0	.	15.7399	0.77887	1.0:0.0:0.0:0.0	.	327;359	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	T	359;327	ENSP00000264658:I359T;ENSP00000377832:I327T	ENSP00000264658:I359T	I	-	2	0	FBXL20	34674081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.254000	0.74563	0.460000	0.39030	ATT		0.522	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		7	36	0	0	0	1	0	7	36					G	37420555	A	G	37420555	3	3	68	1	0	0	0	0	1	0	0	0	5717	101	4	4	242	4	FBXL20	17	37420555	Missense_Mutation	SNP	A	TCGA-RT-A6YA-01A-12D-A35D-08	7863563	37420555	43774655	20	1290										
KCTD1	284252	broad.mit.edu	37	chr18	24128262	24128264	+	Intron	DEL	TCC	TCC	-													0	0	1	0	0	0	1	1	0	cctccagccccccacctccgTcctcctcctcctcctcgtcc							TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr18:24128262_24128264delTCC	ENST00000408011.3	-	1	545				KCTD1_ENST00000417602.1_In_Frame_Del_p.E79del|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.69																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(235-240)gac>ga		potassium channel tetramerization domain containing 1			,,	34,7,3315		2,0,30,2,3,1641					,,	3.5	1			3	107,4,6623		7,0,93,0,4,3263	no	intron,codingComplex,intron	KCTD1	NM_198991.2,NM_001142730.1,NM_001136205.1	,,	9,0,123,2,7,4904	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6484,1.2217,1.5064	,,	,,		141,11,9938				SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128262_24128264delTCC	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+590GGA>-	18.37:g.24128271_24128273delTCC						KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron	p.ED79del	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	236_238	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	In_Frame_Del	DEL	ENST00000408011.3	37	c.237_239delGGA	CCDS11888.1																																																																																				0.69	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		3	3						3	3	---	---	---	---	-	24128264	TCC	-	24128262	6	5	68	0	1	1	0	1	0	0	0	0	8096	1667	58	0		0	KCTD1	18	24128262	Intron	DEL	TCC	TCGA-RT-A6YA-01A-12D-A35D-08		24128262	53948986	21	1291										
NPHS1	4868	broad.mit.edu	37	chr19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcatggtgaatccgcaggCgccccgttggtcccctggat	14	13	0	1	rs146400394		TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		17530	0		0	False		,,,				2504	0					ENST00000378910.5																			1	Substitution - Missense(1)	p.R800H(1)	ovary(1)	NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2398-2400)cGc>cAc		nephrosis 1, congenital, Finnish type (nephrin)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	90	92		2399	3.4	0.2	19	dbSNP_134	92	0,8600		0,0,4300	no	missense	NPHS1	NM_004646.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/1242	36333388	1,13005	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333388C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2399G>A	19.37:g.36333388C>T	ENSP00000368190:p.Arg800His					NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		18	2398	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		800			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2399G>A	CCDS32996.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.629	-0.818010	0.02776	2.27E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78707	-1.2;-1.2	4.46	3.43	0.39272	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.340502	0.29791	N	0.011187	T	0.76912	0.4054	M	0.65498	2.005	0.09310	N	0.999992	D	0.55385	0.971	P	0.49597	0.616	T	0.65990	-0.6034	10	0.25751	T	0.34	-1.0032	8.212	0.31488	0.0:0.8912:0.0:0.1088	.	800	O60500	NPHN_HUMAN	H	800	ENSP00000368190:R800H;ENSP00000343634:R800H	ENSP00000343634:R800H	R	-	2	0	NPHS1	41025228	0.000000	0.05858	0.179000	0.23059	0.016000	0.09150	0.127000	0.15790	1.117000	0.41842	0.558000	0.71614	CGC		0.607	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			6	105	0	0	0	1	0	6	105					T	36333388	C	T	36333388	3	4	68	1	0	0	0	0	1	0	0	0	10582	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08		36333388	22795595	22	1292										
RYR1	6261	broad.mit.edu	37	chr19	38976754	38976754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgctgggggaggcggtgcGcgacggtgggcagcacgctc	21	10	0	0			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr19:38976754G>A	ENST00000359596.3	+	34	5459	c.5459G>A	c.(5458-5460)cGc>cAc	p.R1820H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1820H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1820H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1820	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGGCGGTGCGCGACGGTGGG	0.706																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5458-5460)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						59	58	59					19																	38976754		2203	4292	6495	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976754G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5459G>A	19.37:g.38976754G>A	ENSP00000352608:p.Arg1820His					RYR1_ENST00000359596.3_Missense_Mutation_p.R1820H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1820H	p.R1820H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5590	+	all_cancers(60;7.91e-06)		1820			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5459G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198354	0.22037	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73152	-0.72;-0.72;-0.72	3.7	2.65	0.31530	.	0.568502	0.14066	U	0.343739	T	0.59702	0.2213	N	0.22421	0.69	0.23735	N	0.996982	D;D	0.65815	0.995;0.99	P;P	0.52309	0.648;0.695	T	0.48269	-0.9050	10	0.36615	T	0.2	.	2.8544	0.05568	0.2771:0.0:0.5137:0.2092	.	1820;1820	P21817-2;P21817	.;RYR1_HUMAN	H	1820	ENSP00000352608:R1820H;ENSP00000347667:R1820H;ENSP00000354254:R1820H	ENSP00000347667:R1820H	R	+	2	0	RYR1	43668594	0.015000	0.18098	0.610000	0.28997	0.810000	0.45777	0.929000	0.28844	0.746000	0.32786	0.585000	0.79938	CGC		0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	77	0	0	0	1	0	10	77					A	38976754	G	A	38976754	3	1	68	1	0	0	0	0	1	0	0	0	13768	1087	38	1	5593	1	RYR1	19	38976754	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08	2643366	38976754	20152229	23	1293										
FOXA2	3170	broad.mit.edu	37	chr20	22563313	22563313	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgatccactggtagatctcGctcagcgtcagcatcttgtt	9	11	4	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chr20:22563313G>C	ENST00000377115.4	-	3	730	c.549C>G	c.(547-549)agC>agG	p.S183R	FOXA2_ENST00000419308.2_Missense_Mutation_p.S189R	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	183					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGTAGATCTCGCTCAGCGTCA	0.587																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(547-549)agC>agG		forkhead box A2							135	117	123					20																	22563313		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563313G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.549C>G	20.37:g.22563313G>C	ENSP00000366319:p.Ser183Arg					FOXA2_ENST00000377115.4_Missense_Mutation_p.S183R|FOXA2_ENST00000319993.4_Missense_Mutation_p.S189R	p.S183R	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	751	-	Lung NSC(19;0.188)		183					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.549C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230300	0.58777	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.95853	-3.83;-3.83;-3.83	4.98	3.81	0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.183985	0.32273	U	0.006324	D	0.96756	0.8941	M	0.63169	1.94	0.58432	D	0.999999	D;D	0.76494	0.981;0.999	P;D	0.74348	0.64;0.983	D	0.96995	0.9725	10	0.87932	D	0	.	13.9539	0.64135	0.0897:0.0:0.9103:0.0	.	183;189	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	R	183;183;189;69	ENSP00000366319:S183R;ENSP00000400341:S183R;ENSP00000315955:S189R	ENSP00000315955:S189R	S	-	3	2	FOXA2	22511313	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.865000	0.27940	2.304000	0.77564	0.574000	0.79327	AGC		0.587	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			61	58	0	0	0	1	0	61	58					C	22563313	G	C	22563313	3	2	68	1	0	0	0	0	1	0	0	0	5990	1078	38	5	828	5	FOXA2	20	22563313	Missense_Mutation	SNP	G	TCGA-RT-A6YA-01A-12D-A35D-08		22563313	40462207	24	1294										
TAB3	257397	broad.mit.edu	37	chrX	30877655	30877655	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatttcagggaaacgttgTcgaagatcatggagaacctg	13	6	2	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chrX:30877655T>C	ENST00000378933.1	-	2	228	c.51A>G	c.(49-51)cgA>cgG	p.R17R	TAB3_ENST00000288422.2_Silent_p.R17R|TAB3_ENST00000378930.3_Silent_p.R17R|TAB3_ENST00000378932.2_Silent_p.R17R	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	17	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|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)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGAAACGTTGTCGAAGATCAT	0.448																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(49-51)cgA>cgG		TGF-beta activated kinase 1/MAP3K7 binding protein 3							99	78	85					X																	30877655		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30877655T>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.51A>G	X.37:g.30877655T>C						TAB3_ENST00000378932.2_Silent_p.R17R|TAB3_ENST00000378930.3_Silent_p.R17R|TAB3_ENST00000288422.2_Silent_p.R17R	p.R17R	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			2	228	-			17			CUE.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.51A>G	CCDS14226.1																																																																																				0.448	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		4	22	0	0	0	1	0	4	22					C	30877655	T	C	30877655	2	2	68	1	0	0	0	0	0	0	0	1	15494	1654	58	4		4	TAB3	23	30877655	Silent	SNP	T	TCGA-RT-A6YA-01A-12D-A35D-08		30877655	124392905	25	1295										
MAGEC1	9947	broad.mit.edu	37	chrX	140994473	140994473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtattttacagagttctcCtgagagtgctcaaagtgctt	10	7	2	2			TCGA-RT-A6YA-01A-12D-A35D-08	TCGA-RT-A6YA-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05227ee7-4ecf-4dd2-bbff-9e457664f858	5d7caf6d-3e44-48f0-96f4-0838b3c38d98	g.chrX:140994473C>T	ENST00000285879.4	+	4	1569	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	428										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCTCCTGAGAGTGCT	0.448										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1282-1284)cCt>cTt		melanoma antigen family C, 1							102	111	108					X																	140994473		2194	4290	6484	SO:0001583	missense	9947						protein binding	g.chrX:140994473C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1283C>T	X.37:g.140994473C>T	ENSP00000285879:p.Pro428Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P428L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1569	+	Acute lymphoblastic leukemia(192;6.56e-05)		428					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1283C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.018	0.189098	0.09547	.	.	ENSG00000155495	ENST00000285879	T	0.06768	3.26	.	.	.	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.39881	-0.9592	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	428	O60732	MAGC1_HUMAN	L	428	ENSP00000285879:P428L	ENSP00000285879:P428L	P	+	2	0	MAGEC1	140822139	0.002000	0.14202	0.005000	0.12908	0.005000	0.04900	0.619000	0.24388	0.148000	0.19059	0.150000	0.16122	CCT		0.448	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	184	0	0	0	1	0	7	184					T	140994473	C	T	140994473	3	4	68	1	0	0	0	0	1	0	0	0	9180	681	24	3	1289	3	MAGEC1	23	140994473	Missense_Mutation	SNP	C	TCGA-RT-A6YA-01A-12D-A35D-08	110116818	140994473	14276087	26	1296										
SACM1L	22908	broad.mit.edu	37	chr3	45748365	45748365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	agattttgatgtcctttcttAtaagaagacaatgttgcact	7	6	1	4			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr3:45748365A>G	ENST00000389061.5	+	4	503	c.299A>G	c.(298-300)tAt>tGt	p.Y100C	SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	100					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTCCTTTCTTATAAGAAGACA	0.373																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(298-300)tAt>tGt		SAC1 suppressor of actin mutations 1-like (yeast)							90	88	89					3																	45748365		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45748365A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.299A>G	3.37:g.45748365A>G	ENSP00000373713:p.Tyr100Cys					SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Intron|SACM1L_ENST00000464524.1_3'UTR	p.Y100C	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	4	503	+			100					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.299A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424864	0.83667	.	.	ENSG00000211456	ENST00000389061	T	0.56776	0.44	5.52	5.52	0.82312	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.55872	-0.8072	10	0.21540	T	0.41	-17.1008	15.6379	0.76970	1.0:0.0:0.0:0.0	.	100	Q9NTJ5	SAC1_HUMAN	C	100	ENSP00000373713:Y100C	ENSP00000373713:Y100C	Y	+	2	0	SACM1L	45723369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.847000	0.92166	2.094000	0.63399	0.482000	0.46254	TAT		0.373	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		24	40	0	0	0	1	0	24	40					G	45748365	A	G	45748365	3	3	69	1	0	0	0	0	1	0	0	0	13803	449	16	4	313	4	SACM1L	3	45748365	Missense_Mutation	SNP	A	TCGA-RT-A6YC-01A-12D-A35D-08		45748365	152274065	1	1297										
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726526	25726527	+	Frame_Shift_Ins	INS	-	-	T													0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	gtggcggggaataatgcgagINStttttttgttatcgcgagac							TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr6:25726526_25726527insT	ENST00000297012.3	-	1	263_264	c.229_230insA	c.(229-231)actfs	p.T77fs	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	77						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AATAATGCGAGTTTTTTTGTTA	0.545																																						ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(229-231)tcgfs		histone cluster 1, H2aa																																				SO:0001589	frameshift_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726526_25726527insT	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"Histones / Replication-dependent"	18729	protein-coding gene	gene with protein product		613499	"H2A histone family, member R", "histone 1, H2aa"			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.230dupA	6.37:g.25726533_25726533dupT	ENSP00000297012:p.Thr77fs						p.S77fs	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	263_264	-			77						Frame_Shift_Ins	INS	ENST00000297012.3	37	c.229_230insA	CCDS4562.1																																																																																				0.545	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		31	73						31	73	---	---	---	---	T	25726527	-	T	25726526	7	5	69	1	0	1	1	0	0	0	0	0	7128	1029	36	0	169	0	HIST1H2AA	6	25726526	Frame_Shift_Ins	INS	-	TCGA-RT-A6YC-01A-12D-A35D-08		25726526	145388541	2	1298										
AHR	196	broad.mit.edu	37	chr7	17382667	17382667	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	gccagaccttttcctgatttGacatccagtggattcctgta	8	11	0	3			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr7:17382667G>A	ENST00000242057.4	+	11	3169	c.2526G>A	c.(2524-2526)ttG>ttA	p.L842L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	842				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}.	apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTCCTGATTTGACATCCAGTG	0.368																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2524-2526)ttG>ttA		aryl hydrocarbon receptor							219	206	210					7																	17382667		2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17382667G>A	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2526G>A	7.37:g.17382667G>A							p.L842L	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			11	3169	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		842	LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).				A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.2526G>A	CCDS5366.1																																																																																				0.368	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		7	280	0	0	0	1	0	7	280					A	17382667	G	A	17382667	2	1	69	1	0	0	0	0	0	0	0	1	416	1281	45	3		3	AHR	7	17382667	Silent	SNP	G	TCGA-RT-A6YC-01A-12D-A35D-08		17382667	141755996	3	1299										
NFYB	4801	broad.mit.edu	37	chr12	104517193	104517193	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	tgaacacattctttggcatcTtttgcaatctgaagagaaaa	7	7	3	3			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr12:104517193T>C	ENST00000240055.3	-	5	467	c.240A>G	c.(238-240)aaA>aaG	p.K80K	NFYB_ENST00000551727.1_Silent_p.K80K|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	80	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTTTGGCATCTTTTGCAATCT	0.348																																						ENST00000240055.3																			0				large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(238-240)aaA>aaG		nuclear transcription factor Y, beta							81	76	78					12																	104517193		2202	4300	6502	SO:0001819	synonymous_variant	4801					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:104517193T>C		CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.240A>G	12.37:g.104517193T>C						NFYB_ENST00000551727.1_Silent_p.K80K	p.K80K	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN			5	467	-			80			B domain.		A8K7B9|Q96IY8	Silent	SNP	ENST00000240055.3	37	c.240A>G	CCDS9098.1																																																																																				0.348	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407786.1			3	27	0	0	0	1	0	3	27					C	104517193	T	C	104517193	2	2	69	1	0	0	0	0	0	0	0	1	10390	1606	56	4		4	NFYB	12	104517193	Silent	SNP	T	TCGA-RT-A6YC-01A-12D-A35D-08		104517193	29334702	4	1300										
EVPL	2125	broad.mit.edu	37	chr17	74005061	74005061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	gccggcccgcagctgctgcaCctcaagctctagctggcgcc	12	18	2	0	rs376290291		TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr17:74005061C>T	ENST00000301607.3	-	22	4478	c.4225G>A	c.(4225-4227)Gtg>Atg	p.V1409M	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1409	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCTGCTGCACCTCAAGCTCT	0.701																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4225-4227)Gtg>Atg		envoplakin		C	MET/VAL	1,4399		0,1,2199	37	43	41		4225	5.6	1	17		41	0,8590		0,0,4295	no	missense	EVPL	NM_001988.2	21	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1409/2034	74005061	1,12989	2200	4295	6495	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005061C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4225G>A	17.37:g.74005061C>T	ENSP00000301607:p.Val1409Met					EVPL_ENST00000586740.1_Missense_Mutation_p.V1431M	p.V1409M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4478	-			1409			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4225G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344919	0.61073	2.27E-4	0.0	ENSG00000167880	ENST00000301607	T	0.58940	0.3	5.55	5.55	0.83447	.	0.158034	0.41823	D	0.000814	T	0.75664	0.3880	M	0.74258	2.255	0.39335	D	0.965485	D;D	0.64830	0.994;0.981	D;P	0.63703	0.917;0.77	T	0.77427	-0.2592	10	0.52906	T	0.07	-42.6948	19.5008	0.95093	0.0:1.0:0.0:0.0	.	1431;1409	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1409	ENSP00000301607:V1409M	ENSP00000301607:V1409M	V	-	1	0	EVPL	71516656	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.583000	0.46094	2.620000	0.88729	0.655000	0.94253	GTG		0.701	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		18	36	0	0	0	1	0	18	36					T	74005061	C	T	74005061	3	4	69	1	0	0	0	0	1	0	0	0	5292	507	18	3	1880	3	EVPL	17	74005061	Missense_Mutation	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		74005061	7190149	5	1301										
OR7G3	390883	broad.mit.edu	37	chr19	9237506	9237506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	caggatgatgagcaggttccCcagcattgtggccaggtaca	13	10	0	2			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr19:9237506C>T	ENST00000305444.2	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCAGGTTCCCCAGCATTGTG	0.542																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(121-123)Ggg>Agg		olfactory receptor, family 7, subfamily G, member 3							106	92	97					19																	9237506		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237506C>T		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.121G>A	19.37:g.9237506C>T	ENSP00000302867:p.Gly41Arg						p.G41R	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	120	-			41					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.121G>A	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898396	0.33535	.	.	ENSG00000170920	ENST00000305444	T	0.04406	3.63	4.02	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000679	T	0.20659	0.0497	M	0.92459	3.31	0.09310	N	0.999999	D	0.58970	0.984	P	0.56474	0.799	T	0.08806	-1.0704	10	0.87932	D	0	.	10.5484	0.45072	0.0:0.9025:0.0:0.0975	.	41	Q8NG95	OR7G3_HUMAN	R	41	ENSP00000302867:G41R	ENSP00000302867:G41R	G	-	1	0	OR7G3	9098506	0.000000	0.05858	0.348000	0.25681	0.061000	0.15899	0.554000	0.23407	1.040000	0.40099	0.558000	0.71614	GGG		0.542	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			3	52	0	0	0	1	0	3	52					T	9237506	C	T	9237506	3	4	69	1	0	0	0	0	1	0	0	0	11224	623	22	3	820	3	OR7G3	19	9237506	Missense_Mutation	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		9237506	49891477	6	1302										
MYT1	4661	broad.mit.edu	37	chr20	62854521	62854521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.142857142857143	1	1	1.64473684210526	NA	1.64473684210526	1	1	0	accgggaactacgcctcccaCcgcaggtttgtctcctgctc	9	17	1	0			TCGA-RT-A6YC-01A-12D-A35D-08	TCGA-RT-A6YC-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	583d10a7-9d12-45d1-861b-5c2231935b2e	7a23bba7-57b3-4705-aeb3-f0fbdd7b3f19	g.chr20:62854521C>T	ENST00000328439.1	+	15	2818	c.2454C>T	c.(2452-2454)caC>caT	p.H818H	MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000536311.1_Silent_p.H845H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACGCCTCCCACCGCAGGTTTG	0.612																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2533-2535)caC>caT		myelin transcription factor 1							170	165	167					20																	62854521		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854521C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2454C>T	20.37:g.62854521C>T						MYT1_ENST00000360149.4_Silent_p.H520H|MYT1_ENST00000328439.1_Silent_p.H818H	p.H845H			Q01538	MYT1_HUMAN			15	2899	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		818					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.2535C>T	CCDS13558.1																																																																																				0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		4	122	0	0	0	1	0	4	122					T	62854521	C	T	62854521	2	4	69	1	0	0	0	0	0	0	0	1	10106	506	18	3		3	MYT1	20	62854521	Silent	SNP	C	TCGA-RT-A6YC-01A-12D-A35D-08		62854521	170999	7	1303										
PADI1	29943	broad.mit.edu	37	chr1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	aggtcttcatggtctacaacCgcacacgtgtgaaagagccc	10	12	3	2	rs142259163		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			1	Substitution - Missense(1)	p.R56C(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(166-168)Cgc>Tgc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)		CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	130	120	123		166	1.9	0	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PADI1	NM_013358.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	56/664	17548858	2,13004	2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548858C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.166C>T	1.37:g.17548858C>T	ENSP00000364620:p.Arg56Cys						p.R56C	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	258	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	56					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.166C>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	c	3.633	-0.075107	0.07184	2.27E-4	1.16E-4	ENSG00000142623	ENST00000375471	T	0.08282	3.11	3.87	1.94	0.25998	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.179400	0.36665	U	0.002463	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	0.999999	P	0.52316	0.952	B	0.43783	0.431	T	0.35425	-0.9789	10	0.36615	T	0.2	-4.1982	7.0036	0.24823	0.1981:0.6104:0.1915:0.0	.	56	Q9ULC6	PADI1_HUMAN	C	56	ENSP00000364620:R56C	ENSP00000364620:R56C	R	+	1	0	PADI1	17421445	0.008000	0.16893	0.001000	0.08648	0.059000	0.15707	0.129000	0.15830	0.242000	0.21303	-0.828000	0.03084	CGC		0.552	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		6	33	0	0	0	1	0	6	33					T	17548858	C	T	17548858	3	4	70	1	0	0	0	0	1	0	0	0	11377	652	23	2	172	2	PADI1	1	17548858	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		17548858	231701763	1	1304										
KIAA0467	23334	broad.mit.edu	37	chr1	43905438	43905438	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	ggttgttgtggacagttcttCaggtgggacagcttggtcag	16	6	3	0			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr1:43905438C>G	ENST00000562955.1	+	49	6869	c.6869C>G	c.(6868-6870)tCa>tGa	p.S2290*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.S1448*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2347					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACAGTTCTTCAGGTGGGACA	0.587																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6868-6870)tCa>tGa		seizure threshold 2 homolog (mouse)							52	55	54					1																	43905438		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43905438C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6869C>G	1.37:g.43905438C>G	ENSP00000457168:p.Ser2290*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.S1448*	p.S2290*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			49	6869	+			2347					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.6869C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	46	12.251911	0.99650	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.84	4.92	0.64577	.	1.069310	0.07227	N	0.861900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.8996	0.70670	0.1429:0.8571:0.0:0.0	.	.	.	.	X	1448	.	ENSP00000361519:S1448X	S	+	2	0	SZT2	43678025	0.759000	0.28416	0.981000	0.43875	0.865000	0.49528	2.143000	0.42187	1.445000	0.47624	0.655000	0.94253	TCA		0.587	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	4	0	0	0	1	0	14	4					G	43905438	C	G	43905438	4	3	70	1	0	0	0	0	0	1	0	0	8178	838	29	5	4473	5	KIAA0467	1	43905438	Nonsense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	26356580	43905438	205345183	2	1305										
PUM2	23369	broad.mit.edu	37	chr2	20463176	20463176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	ttcgatattttgcttctgctCcaggtgctgcagagatatat	9	8	1	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:20463176C>T	ENST00000361078.2	-	13	2025	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	PUM2_ENST00000536417.1_Missense_Mutation_p.G612E|PUM2_ENST00000319801.5_Missense_Mutation_p.G589E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E|PUM2_ENST00000338086.5_Missense_Mutation_p.G668E			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	668	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTCTGCTCCAGGTGCTGC	0.443																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2002-2004)gGa>gAa		pumilio RNA-binding family member 2							76	74	75					2																	20463176		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463176C>T	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2003G>A	2.37:g.20463176C>T	ENSP00000354370:p.Gly668Glu					PUM2_ENST00000338086.5_Missense_Mutation_p.G668E|PUM2_ENST00000536417.1_Missense_Mutation_p.G612E|PUM2_ENST00000403432.1_Missense_Mutation_p.G668E|PUM2_ENST00000319801.5_Missense_Mutation_p.G589E	p.G668E			Q8TB72	PUM2_HUMAN			13	2025	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		668			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2003G>A		.	.	.	.	.	.	.	.	.	.	C	29.7	5.028180	0.93518	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.21361	2.01;2.3;2.32;2.08;2.01;2.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.43065	-0.9414	10	0.62326	D	0.03	-9.4864	19.325	0.94258	0.0:1.0:0.0:0.0	.	612;589;668;668	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	E	668;668;589;480;668;612	ENSP00000338173:G668E;ENSP00000354370:G668E;ENSP00000326746:G589E;ENSP00000409905:G480E;ENSP00000385992:G668E;ENSP00000440093:G612E	ENSP00000326746:G589E	G	-	2	0	PUM2	20326657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.572000	0.86782	0.655000	0.94253	GGA		0.443	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		43	63	0	0	0	1	0	43	63					T	20463176	C	T	20463176	3	4	70	1	0	0	0	0	1	0	0	0	12826	855	30	3	1223	3	PUM2	2	20463176	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		20463176	222736197	3	1306										
SPDYA	55006	broad.mit.edu	37	chr2	29072796	29072796	+	3'UTR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	ctatggagtggtttacaggaAgtgaagaatgagatggccca	14	5	0	3			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:29072796A>C	ENST00000306108.5	-	0	1726				TRMT61B_ENST00000484060.1_5'Flank|SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R|SPDYA_ENST00000334056.5_Missense_Mutation_p.S311R	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)						mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTTTACAGGAAGTGAAGAATG	0.323																																						ENST00000334056.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(931-933)Agt>Cgt		speedy/RINGO cell cycle regulator family member A							50	54	53					2																	29072796		2203	4298	6501	SO:0001624	3_prime_UTR_variant	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29072796A>C	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.*269T>G	2.37:g.29072796A>C						SPDYA_ENST00000379579.4_Missense_Mutation_p.S311R|TRMT61B_ENST00000306108.5_3'UTR	p.S311R	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN			8	1120	+	Acute lymphoblastic leukemia(172;0.155)		311					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.931A>C	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045847	0.55110	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.87	5.87	0.94306	.	0.406008	0.16932	U	0.193603	T	0.50973	0.1647	L	0.44542	1.39	0.80722	D	1	P	0.39216	0.664	B	0.33690	0.168	T	0.54397	-0.8300	9	0.51188	T	0.08	2.0304	16.5764	0.84681	1.0:0.0:0.0:0.0	.	311	Q5MJ70	SPDYA_HUMAN	R	311	.	ENSP00000335628:S311R	S	+	1	0	SPDYA	28926300	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.419000	0.59835	2.371000	0.80710	0.533000	0.62120	AGT		0.323	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		16	26	0	0	0	1	0	16	26					C	29072796	A	C	29072796	1	2	70	0	1	0	0	0	0	0	0	0	15026	72	3	5		5	SPDYA	2	29072796	3'UTR	SNP	A	TCGA-RW-A67V-01A-11D-A35D-08	8609620	29072796	214126577	4	1307										
TTN	7273	broad.mit.edu	37	chr2	179430601	179430601	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	cagccatgactctgaagtaaTaaatggctccttctgtaagg	9	9	2	2			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr2:179430601T>C	ENST00000591111.1	-	276	75559	c.75335A>G	c.(75334-75336)tAt>tGt	p.Y25112C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y26753C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25112	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGAAGTAATAAATGGCTCC	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80257-80259)tAt>tGt		titin							171	163	165					2																	179430601		1919	4119	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430601T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75335A>G	2.37:g.179430601T>C	ENSP00000465570:p.Tyr25112Cys					TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y17813C|TTN_ENST00000342175.6_Missense_Mutation_p.Y17880C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y24185C|TTN_ENST00000460472.2_Missense_Mutation_p.Y17688C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y25112C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.Y26753C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80482	-			25112			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80258A>G		.	.	.	.	.	.	.	.	.	.	T	10.29	1.310408	0.23821	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.81	5.81	0.92471	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97244	0.9099	H	0.99425	4.56	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.995;0.995;0.997	D	0.99136	1.0854	9	0.87932	D	0	.	16.1538	0.81644	0.0:0.0:0.0:1.0	.	17688;17813;17880;25112	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24185;17688;17880;17813;17686	ENSP00000343764:Y24185C;ENSP00000434586:Y17688C;ENSP00000340554:Y17880C;ENSP00000352154:Y17813C	ENSP00000340554:Y17880C	Y	-	2	0	TTN	179138847	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.011000	0.64011	2.221000	0.72209	0.454000	0.30748	TAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	123	0	0	0	1	0	12	123					C	179430601	T	C	179430601	3	2	70	1	0	0	0	0	1	0	0	0	16732	1406	49	4	27869	4	TTN	2	179430601	Missense_Mutation	SNP	T	TCGA-RW-A67V-01A-11D-A35D-08	150357805	179430601	63768772	5	1308										
RPS12	6206	broad.mit.edu	37	chr6	133138155	133138155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	ctttgtaaaattgacagagaGgggaaaccccgtaaagtggt	12	6	0	2	rs1052683		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr6:133138155G>A	ENST00000230050.3	+	5	501	c.291G>A	c.(289-291)gaG>gaA	p.E97E	SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORD100_ENST00000408573.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		TTGACAGAGAGGGGAAACCCC	0.373																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(289-291)gaG>gaA		ribosomal protein S12							63	61	62					6																	133138155		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138155G>A	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.291G>A	6.37:g.133138155G>A							p.E97E	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	501	+	Breast(56;0.214)		97					Q76M58	Silent	SNP	ENST00000230050.3	37	c.291G>A	CCDS5164.1																																																																																				0.373	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		3	38	0	0	0	1	0	3	38					A	133138155	G	A	133138155	2	1	70	1	0	0	0	0	0	0	0	1	13622	991	35	3		3	RPS12	6	133138155	Silent	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08		133138155	37976912	6	1309										
ADO	84890	broad.mit.edu	37	chr10	64565028	64565028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	cgaggacttgaacatcgcccCgcgcaaggccacactgcagc	11	16	0	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr10:64565028C>T	ENST00000373783.1	+	1	513	c.209C>T	c.(208-210)cCg>cTg	p.P70L	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	70						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACATCGCCCCGCGCAAGGCC	0.672																																						ENST00000373783.1																			0				lung(2)	2						c.(208-210)cCg>cTg		2-aminoethanethiol (cysteamine) dioxygenase							19	17	17					10																	64565028		2178	4261	6439	SO:0001583	missense	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64565028C>T	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"cysteamine dioxygenase"	611392	"chromosome 10 open reading frame 22"	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.209C>T	10.37:g.64565028C>T	ENSP00000362888:p.Pro70Leu					RP11-436D10.3_ENST00000425290.1_RNA	p.P70L	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN			1	513	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		70					B1AL29	Missense_Mutation	SNP	ENST00000373783.1	37	c.209C>T	CCDS7266.2	.	.	.	.	.	.	.	.	.	.	c	22.7	4.325295	0.81580	.	.	ENSG00000181915	ENST00000373783	T	0.48201	0.82	4.99	3.12	0.35913	Cupin, RmlC-type (1);	0.311519	0.29876	U	0.010964	T	0.51346	0.1669	M	0.81112	2.525	0.58432	D	0.999999	D	0.60575	0.988	P	0.47206	0.541	T	0.50701	-0.8797	10	0.37606	T	0.19	.	8.0649	0.30654	0.0:0.7527:0.1602:0.0871	.	70	Q96SZ5	AEDO_HUMAN	L	70	ENSP00000362888:P70L	ENSP00000362888:P70L	P	+	2	0	ADO	64235034	0.990000	0.36364	0.989000	0.46669	0.985000	0.73830	2.893000	0.48633	0.605000	0.29947	0.651000	0.88453	CCG		0.672	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		3	20	0	0	0	1	0	3	20					T	64565028	C	T	64565028	3	4	70	1	0	0	0	0	1	0	0	0	325	652	23	2	211	2	ADO	10	64565028	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		64565028	70969719	7	1310										
C12orf45	121053	broad.mit.edu	37	chr12	105385571	105385571	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	agaaatggcagctgcaccacCtggtcgtttcaatattgaaa	9	9	1	2			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr12:105385571C>G	ENST00000552951.1	+	3	327	c.284C>G	c.(283-285)cCt>cGt	p.P95R	C12orf45_ENST00000280749.5_Intron	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	95										large_intestine(1)|lung(2)	3						GCTGCACCACCTGGTCGTTTC	0.403																																						ENST00000552951.1																			0				large_intestine(1)|lung(2)	3						c.(283-285)cCt>cGt		chromosome 12 open reading frame 45							87	84	85					12																	105385571		1869	4097	5966	SO:0001583	missense	121053							g.chr12:105385571C>G	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.284C>G	12.37:g.105385571C>G	ENSP00000447057:p.Pro95Arg					C12orf45_ENST00000280749.5_Intron	p.P95R	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN			3	327	+			95						Missense_Mutation	SNP	ENST00000552951.1	37	c.284C>G	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719397	0.30503	.	.	ENSG00000151131	ENST00000552951	T	0.35421	1.31	4.86	3.96	0.45880	.	0.240666	0.40469	N	0.001087	T	0.50633	0.1627	M	0.73962	2.25	0.23598	N	0.997325	D	0.67145	0.996	D	0.64410	0.925	T	0.39502	-0.9611	10	0.28530	T	0.3	-12.5255	6.1849	0.20491	0.1874:0.7182:0.0:0.0944	.	95	Q8N5I9	CL045_HUMAN	R	95	ENSP00000447057:P95R	ENSP00000447057:P95R	P	+	2	0	C12orf45	103909701	0.931000	0.31567	0.997000	0.53966	0.016000	0.09150	2.197000	0.42696	1.037000	0.40024	-0.282000	0.10007	CCT		0.403	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318		8	62	0	0	0	1	0	8	62					G	105385571	C	G	105385571	3	3	70	1	0	0	0	0	1	0	0	0	1691	681	24	5	294	5	C12orf45	12	105385571	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08		105385571	28466324	8	1311										
DHX37	57647	broad.mit.edu	37	chr12	125450247	125450247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	gccatcccccaggtccagatCgaggtcggagtccagggccc	13	16	0	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr12:125450247C>T	ENST00000308736.2	-	13	1800	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	DHX37_ENST00000544745.1_Missense_Mutation_p.D355N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	568	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGTCCAGATCGAGGTCGGAG	0.597																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(1702-1704)Gat>Aat		DEAH (Asp-Glu-Ala-His) box polypeptide 37							140	106	117					12																	125450247		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125450247C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1702G>A	12.37:g.125450247C>T	ENSP00000311135:p.Asp568Asn					DHX37_ENST00000544745.1_Missense_Mutation_p.D355N	p.D568N	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	13	1800	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		568			Helicase C-terminal.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1702G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377516	0.61735	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03441	3.99;3.93	5.26	5.26	0.73747	Helicase, C-terminal (2);	0.093264	0.64402	D	0.000001	T	0.10594	0.0259	M	0.70275	2.135	0.80722	D	1	D	0.63046	0.992	P	0.47528	0.549	T	0.01202	-1.1420	10	0.66056	D	0.02	-12.7706	18.4861	0.90830	0.0:1.0:0.0:0.0	.	568	Q8IY37	DHX37_HUMAN	N	568;355	ENSP00000311135:D568N;ENSP00000439009:D355N	ENSP00000311135:D568N	D	-	1	0	DHX37	124016200	1.000000	0.71417	0.827000	0.32855	0.292000	0.27327	6.416000	0.73332	2.465000	0.83290	0.655000	0.94253	GAT		0.597	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		10	13	0	0	0	1	0	10	13					T	125450247	C	T	125450247	3	4	70	1	0	0	0	0	1	0	0	0	4510	884	31	2	1831	2	DHX37	12	125450247	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	20064676	125450247	8401648	9	1312										
SHISA2	387914	broad.mit.edu	37	chr13	26621012	26621012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	tgctggactggcgtgaggacGacccccgggaggtgctggca	18	11	0	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr13:26621012G>A	ENST00000319420.3	-	2	582	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	176					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GCGTGAGGACGACCCCCGGGA	0.667																																						ENST00000319420.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						c.(526-528)tCg>tTg		shisa family member 2							47	53	51					13																	26621012		2203	4300	6503	SO:0001583	missense	387914				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr13:26621012G>A		CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"Shisa homologs"	20366	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 13", "transmembrane protein 46", "shisa homolog 2 (Xenopus laevis)"	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.527C>T	13.37:g.26621012G>A	ENSP00000313079:p.Ser176Leu						p.S176L	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN			2	582	-			176					B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	c.527C>T	CCDS31951.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228840	0.79576	.	.	ENSG00000180730	ENST00000319420	T	0.42900	0.96	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.50767	-0.8789	10	0.12103	T	0.63	-22.2546	18.2478	0.89992	0.0:0.0:1.0:0.0	.	176	Q6UWI4	SHSA2_HUMAN	L	176	ENSP00000313079:S176L	ENSP00000313079:S176L	S	-	2	0	SHISA2	25519012	1.000000	0.71417	0.034000	0.17996	0.440000	0.31957	9.800000	0.99124	2.304000	0.77564	0.650000	0.86243	TCG		0.667	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2	NM_001007538		35	38	0	0	0	1	0	35	38					A	26621012	G	A	26621012	3	1	70	1	0	0	0	0	1	0	0	0	14280	1059	37	2	364	2	SHISA2	13	26621012	Missense_Mutation	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08		26621012	88548866	10	1313										
UBR7	55148	broad.mit.edu	37	chr14	93673726	93673726	+	Frame_Shift_Del	DEL	G	G	-													0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	cttgaggaggacgaggagctGgagaatgaggcgtgcgctgt							TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr14:93673726delG	ENST00000013070.6	+	1	326	c.90delG	c.(88-90)ctgfs	p.L30fs	UBR7_ENST00000416753.1_5'UTR|C14orf142_ENST00000306954.4_5'Flank|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	30							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ACGAGGAGCTGGAGAATGAGG	0.706											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(88-90)ctfs		ubiquitin protein ligase E3 component n-recognin 7 (putative)							46	35	39					14																	93673726		2186	4275	6461	SO:0001589	frameshift_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93673726delG	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.90delG	14.37:g.93673726delG	ENSP00000013070:p.Leu30fs		OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1299	RP11-371E8.4_ENST00000557574.1_Intron|UBR7_ENST00000416753.1_5'UTR|RP11-371E8.4_ENST00000557048.1_Intron	p.L30fs	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			1	326	+			30					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Frame_Shift_Del	DEL	ENST00000013070.6	37	c.90delG	CCDS9909.1																																																																																				0.706	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		2	4						2	4	---	---	---	---	-	93673726	G	-	93673726	7	5	70	1	0	1	0	1	0	0	0	0	16903	1335	47	0	92	0	UBR7	14	93673726	Frame_Shift_Del	DEL	G	TCGA-RW-A67V-01A-11D-A35D-08		93673726	13675814	11	1314										
WDR20	91833	broad.mit.edu	37	chr14	102675248	102675248	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	gacgggtttctgcgggtgttCaactttgactcagtggagct	14	8	3	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr14:102675248C>G	ENST00000342702.3	+	3	772	c.741C>G	c.(739-741)ttC>ttG	p.F247L	WDR20_ENST00000424963.2_Missense_Mutation_p.F123L|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000335263.5_Missense_Mutation_p.F247L	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	247										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCGGGTGTTCAACTTTGACT	0.567																																						ENST00000335263.5																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(739-741)ttC>ttG		WD repeat domain 20							79	70	73					14																	102675248		2203	4300	6503	SO:0001583	missense	91833							g.chr14:102675248C>G	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.741C>G	14.37:g.102675248C>G	ENSP00000341037:p.Phe247Leu					WDR20_ENST00000342702.3_Missense_Mutation_p.F247L|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.F74L|WDR20_ENST00000556807.1_Missense_Mutation_p.F186L|WDR20_ENST00000556511.2_Missense_Mutation_p.F186L|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.F278L|WDR20_ENST00000424963.2_Missense_Mutation_p.F123L	p.F247L	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN			3	821	+			247					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.741C>G	CCDS9969.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.152404|2.152404	0.38021|0.38021	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511	T;T;T;T;T;T|.	0.61392|.	0.11;0.11;0.11;0.11;0.11;0.11|.	5.83|5.83	1.71|1.71	0.24356|0.24356	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42245|0.42245	0.1194|0.1194	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	P;P;P;D;D;D;P|.	0.59357|.	0.484;0.673;0.891;0.964;0.957;0.985;0.828|.	B;B;P;P;P;D;P|.	0.72338|.	0.381;0.3;0.487;0.699;0.723;0.977;0.654|.	T|T	0.17440|0.17440	-1.0369|-1.0369	10|5	0.41790|.	T|.	0.15|.	.|.	4.2475|4.2475	0.10679|0.10679	0.1624:0.4878:0.0:0.3498|0.1624:0.4878:0.0:0.3498	.|.	278;259;186;247;186;123;247|.	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|.	.;.;.;.;.;.;WDR20_HUMAN|.	L|E	247;186;123;247;186;278;177;74|178	ENSP00000335434:F247L;ENSP00000395793:F123L;ENSP00000341037:F247L;ENSP00000450636:F186L;ENSP00000406084:F278L;ENSP00000437927:F74L|.	ENSP00000299135:F186L|.	F|Q	+|+	3|1	2|0	WDR20|WDR20	101745001|101745001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.505000|1.505000	0.35736|0.35736	0.783000|0.783000	0.33636|0.33636	0.655000|0.655000	0.94253|0.94253	TTC|CAA		0.567	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		21	23	0	0	0	1	0	21	23					G	102675248	C	G	102675248	3	3	70	1	0	0	0	0	1	0	0	0	17277	825	29	5	768	5	WDR20	14	102675248	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	9001522	102675248	4674292	12	1315										
KIAA0556	23247	broad.mit.edu	37	chr16	27752044	27752044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	ggccagggataaaggcctacGgcatgagccagggtggggga	19	8	0	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr16:27752044G>A	ENST00000261588.4	+	15	2445	c.2426G>A	c.(2425-2427)cGg>cAg	p.R809Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	809						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAAGGCCTACGGCATGAGCCA	0.597																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2425-2427)cGg>cAg		KIAA0556							45	49	48					16																	27752044		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27752044G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2426G>A	16.37:g.27752044G>A	ENSP00000261588:p.Arg809Gln						p.R809Q	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2445	+			809					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2426G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289242	0.23478	.	.	ENSG00000047578	ENST00000261588	T	0.10382	2.88	4.94	-0.837	0.10766	.	0.539605	0.19894	N	0.103678	T	0.09069	0.0224	M	0.62723	1.935	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.27262	-1.0079	10	0.30078	T	0.28	-11.7257	3.5363	0.07795	0.3479:0.0:0.3806:0.2715	.	809	O60303	K0556_HUMAN	Q	809	ENSP00000261588:R809Q	ENSP00000261588:R809Q	R	+	2	0	KIAA0556	27659545	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.304000	0.19228	-0.124000	0.11724	-1.683000	0.00735	CGG		0.597	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		15	19	0	0	0	1	0	15	19					A	27752044	G	A	27752044	3	1	70	1	0	0	0	0	1	0	0	0	8183	1116	39	2	2484	2	KIAA0556	16	27752044	Missense_Mutation	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08		27752044	62602709	13	1316										
TNFSF12	8742	broad.mit.edu	37	chr17	7452625	7452626	+	Frame_Shift_Del	DEL	CC	CC	-													0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	gagccgggcatcgctgtccgCccaggtgaggccccgctgcg							TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr17:7452625_7452626delCC	ENST00000293825.6	+	1	418_419	c.155_156delCC	c.(154-156)gccfs	p.A52fs	TNFSF12-TNFSF13_ENST00000293826.4_Frame_Shift_Del_p.A52fs|TNFSF12_ENST00000557233.1_Frame_Shift_Del_p.A52fs	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	52					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				TCGCTGTCCGCCCAGGTGAGGC	0.733																																						ENST00000293826.4																			0				central_nervous_system(1)|large_intestine(2)	3						c.(154-156)gfs																																						SO:0001589	frameshift_variant	407977				immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7452625_7452626delCC	AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.155_156delCC	17.37:g.7452625_7452626delCC	ENSP00000293825:p.Ala52fs					TNFSF12_ENST00000557233.1_Frame_Shift_Del_p.A52fs|TNFSF12_ENST00000293825.6_Frame_Shift_Del_p.A52fs	p.A52fs	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN			1	210_211	+		Prostate(122;0.157)	52					Q8IZK7|Q8WUZ7	Frame_Shift_Del	DEL	ENST00000293825.6	37	c.155_156delCC	CCDS11109.1																																																																																				0.733	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	NM_003809		2	4						2	4	---	---	---	---	-	7452626	CC	-	7452625	7	5	70	1	0	1	0	1	0	0	0	0	16300	739	26	0	157	0	TNFSF12	17	7452625	Frame_Shift_Del	DEL	CC	TCGA-RW-A67V-01A-11D-A35D-08		7452625	73742585	14	1317										
C17orf66	256957	broad.mit.edu	37	chr17	34182738	34182738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	agtggaacacttgtggactgCggatccccaggacaccctgg	13	12	0	0	rs115744817	byFrequency	TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr17:34182738C>T	ENST00000311880.2	-	14	1443	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		432					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTGTGGACTGCGGATCCCCAG	0.532													C|||	6	0.00119808	0.0015	0	5008	,	,		19585	0.004		0	False		,,,				2504	0					ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(1294-1296)cGc>cAc		chromosome 17 open reading frame 66		C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	100	94	96		1295	3.3	1	17	dbSNP_132	96	0,8600		0,0,4300	yes	missense	C17orf66	NM_152781.2	29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	432/571	34182738	10,12996	2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34182738C>T																												ENST00000311880.2:c.1295G>A	17.37:g.34182738C>T	ENSP00000309560:p.Arg432His					C17orf66_ENST00000592980.1_Missense_Mutation_p.R392H	p.R432H	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	14	1443	-		Ovarian(249;0.17)	432					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.1295G>A	CCDS11299.1	4	0.0018315018315018315	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	0	0.0	C	18.44	3.623786	0.66901	0.00227	0.0	ENSG00000172653	ENST00000311880	T	0.48201	0.82	4.29	3.31	0.37934	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44285	D	0.000468	T	0.24586	0.0596	L	0.32530	0.975	0.80722	D	1	P;P	0.38729	0.591;0.644	B;B	0.35353	0.127;0.201	T	0.05084	-1.0907	10	0.42905	T	0.14	.	7.9068	0.29767	0.0:0.8858:0.0:0.1142	.	392;432	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	H	432	ENSP00000309560:R432H	ENSP00000309560:R432H	R	-	2	0	C17orf66	31206851	0.955000	0.32602	0.994000	0.49952	0.957000	0.61999	1.954000	0.40362	1.012000	0.39366	0.563000	0.77884	CGC		0.532	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			3	41	0	0	0	1	0	3	41					T	34182738	C	T	34182738	3	4	70	1	0	0	0	0	1	0	0	0	1874	768	27	1	425	1	C17orf66	17	34182738	Missense_Mutation	SNP	C	TCGA-RW-A67V-01A-11D-A35D-08	26730113	34182738	47012472	15	1318										
RAB11B	9230	broad.mit.edu	37	chr19	8464766	8464766	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	gtggtgctcatcggggactcAggcgtgggcaagagcaacct	16	10	2	1			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chr19:8464766A>G	ENST00000328024.6	+	2	278	c.60A>G	c.(58-60)tcA>tcG	p.S20S	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.S20S	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	20					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						TCGGGGACTCAGGCGTGGGCA	0.647																																						ENST00000328024.6																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(58-60)tcA>tcG		RAB11B, member RAS oncogene family							61	54	56					19																	8464766		2203	4300	6503	SO:0001819	synonymous_variant	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464766A>G	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.60A>G	19.37:g.8464766A>G						RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.S20S	p.S20S	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN			2	278	+			20					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	ENST00000328024.6	37	c.60A>G	CCDS12201.1																																																																																				0.647	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		3	21	0	0	0	1	0	3	21					G	8464766	A	G	8464766	2	3	70	1	0	0	0	0	0	0	0	1	12892	175	7	4		4	RAB11B	19	8464766	Silent	SNP	A	TCGA-RW-A67V-01A-11D-A35D-08		8464766	50664217	16	1319										
PGAM4	441531	broad.mit.edu	37	chrX	77224418	77224418	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	cacagcttctatggctttgcAcaccgtctcttcatccccca	5	17	3	0			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:77224418A>G	ENST00000458128.1	-	1	717	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	240					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)	p.C240R(1)		endometrium(2)|lung(4)	6						ATGGCTTTGCACACCGTCTCT	0.562																																						ENST00000458128.1																			1	Substitution - Missense(1)	p.C240R(1)	lung(1)	endometrium(2)|lung(4)	6						c.(718-720)Tgc>Cgc		phosphoglycerate mutase family member 4							62	57	59					X																	77224418		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224418A>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.718T>C	X.37:g.77224418A>G	ENSP00000412189:p.Cys240Arg					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	p.C240R	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	717	-			240					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.718T>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.952992	0.00050	.	.	ENSG00000226784	ENST00000458128	T	0.78707	-1.2	0.119	-0.238	0.13055	.	0.237591	0.33980	N	0.004367	T	0.32133	0.0819	N	0.00175	-1.925	0.26241	N	0.97887	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	9	.	.	.	-27.5229	5.1219	0.14865	0.2887:0.0:0.7113:0.0	.	240	Q8N0Y7	PGAM4_HUMAN	R	240	ENSP00000412189:C240R	.	C	-	1	0	PGAM4	77111074	0.991000	0.36638	0.061000	0.19648	0.062000	0.15995	1.249000	0.32839	-1.865000	0.01147	-1.846000	0.00573	TGC		0.562	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		4	97	0	0	0	1	0	4	97					G	77224418	A	G	77224418	3	3	70	1	0	0	0	0	1	0	0	0	11775	159	6	4	50	4	PGAM4	23	77224418	Missense_Mutation	SNP	A	TCGA-RW-A67V-01A-11D-A35D-08		77224418	78046142	17	1320										
COL4A6	1288	broad.mit.edu	37	chrX	107413898	107413898	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	ttgccccttggtgaccagaaGaacctggaagtcctggttct	11	11	1	3			TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:107413898G>A	ENST00000372216.4	-	35	3537	c.3437C>T	c.(3436-3438)tCt>tTt	p.S1146F	COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000334504.7_Missense_Mutation_p.S1145F	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1146	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTGACCAGAAGAACCTGGAAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3433-3435)tCt>tTt		collagen, type IV, alpha 6							155	160	159					X																	107413898		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107413898G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3437C>T	X.37:g.107413898G>A	ENSP00000361290:p.Ser1146Phe					COL4A6_ENST00000372216.4_Missense_Mutation_p.S1146F|COL4A6_ENST00000545689.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000538570.1_Missense_Mutation_p.S1145F|COL4A6_ENST00000394872.2_Missense_Mutation_p.S1146F	p.S1145F	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			35	3667	-			1146			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3434C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	0.502	-0.870389	0.02570	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.3;-3.43	5.08	4.17	0.49024	.	0.357320	0.20698	N	0.087327	D	0.89097	0.6618	L	0.43152	1.355	0.09310	N	0.999996	B;B;B;B	0.25272	0.1;0.003;0.122;0.1	B;B;B;B	0.22386	0.023;0.004;0.039;0.023	T	0.74569	-0.3622	10	0.10111	T	0.7	.	8.189	0.31357	0.2001:0.0:0.7999:0.0	.	1145;1145;1146;1145	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	F	1146;1145;1146;1145;1145;1145	ENSP00000361290:S1146F;ENSP00000334733:S1145F;ENSP00000378340:S1146F;ENSP00000443707:S1145F;ENSP00000445236:S1145F	ENSP00000334733:S1145F	S	-	2	0	COL4A6	107300554	0.799000	0.28903	0.696000	0.30242	0.010000	0.07245	1.429000	0.34903	1.147000	0.42369	0.600000	0.82982	TCT		0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			5	153	0	0	0	1	0	5	153					A	107413898	G	A	107413898	3	1	70	1	0	0	0	0	1	0	0	0	3695	942	33	3	1682	3	COL4A6	23	107413898	Missense_Mutation	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08	30189480	107413898	47856662	18	1321										
AIFM1	9131	broad.mit.edu	37	chrX	129265714	129265714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.157894736842105	3	1	2.19807692307692	6.35	0.9525	1	1	0	tttgcaaaaacaccaactgtGggcaaactactgtccacaag	7	11	0	0	rs373137270		TCGA-RW-A67V-01A-11D-A35D-08	TCGA-RW-A67V-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d177db6-8f67-47e6-9cd7-9a7d8e3465e1	da931eb3-5bef-4845-a09f-67095468917e	g.chrX:129265714G>A	ENST00000287295.3	-	14	1739	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000319908.3_Silent_p.P499P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	503					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CACCAACTGTGGGCAAACTAC	0.478																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1507-1509)ccC>ccT		apoptosis-inducing factor, mitochondrion-associated, 1		G	,,,,	0,3835		0,0,0,1632,571	190	163	172		453,,1509,1497,648	4.8	1	X		172	1,6727		0,0,1,2428,1871	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	AIFM1	NM_001130846.2,NM_001130847.3,NM_004208.3,NM_145812.2,NM_145813.2	,,,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,,,	151/262,,503/614,499/610,216/327	129265714	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129265714G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1509C>T	X.37:g.129265714G>A						AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Silent_p.P164P|AIFM1_ENST00000346424.2_Silent_p.P216P|AIFM1_ENST00000440263.1_Silent_p.P151P|AIFM1_ENST00000319908.3_Silent_p.P499P	p.P503P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			14	1739	-			503					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.1509C>T	CCDS14618.1																																																																																				0.478	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			11	175	0	0	0	1	0	11	175					A	129265714	G	A	129265714	2	1	70	1	0	0	0	0	0	0	0	1	426	1335	47	3		3	AIFM1	23	129265714	Silent	SNP	G	TCGA-RW-A67V-01A-11D-A35D-08	21851816	129265714	26004846	19	1322										
CASZ1	54897	broad.mit.edu	37	chr1	10699541	10699541	+	Frame_Shift_Del	DEL	G	G	-													0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	cgacatgcccaccaccgtgtGgcggcagcccgggaaggtgc							TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:10699541delG	ENST00000377022.3	-	21	5055	c.4738delC	c.(4738-4740)cacfs	p.H1580fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1580					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACCACCGTGTGGCGGCAGCCC	0.697																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4738-4740)acfs		castor zinc finger 1							17	26	23					1																	10699541		2081	4197	6278	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699541delG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4738delC	1.37:g.10699541delG	ENSP00000366221:p.His1580fs					RP4-734G22.3_ENST00000606802.1_RNA	p.H1580fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5055	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1580					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.4738delC	CCDS41246.1																																																																																				0.697	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		2	4						2	4	---	---	---	---	-	10699541	G	-	10699541	7	5	71	1	0	1	0	1	0	0	0	0	2685	1348	47	0	545	0	CASZ1	1	10699541	Frame_Shift_Del	DEL	G	TCGA-RW-A67W-01A-11D-A35D-08		10699541	238551080	1	1323										
EPB41	2035	broad.mit.edu	37	chr1	29365807	29365807	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	tcccaaaagcaaatttcttgCgctaggatccaaatttcgat	6	10	1	0			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:29365807C>A	ENST00000343067.4	+	11	1632	c.1505C>A	c.(1504-1506)gCg>gAg	p.A502E	EPB41_ENST00000347529.3_Missense_Mutation_p.A467E|EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	502	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAATTTCTTGCGCTAGGATCC	0.428																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1504-1506)gCg>gAg		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							89	89	89					1																	29365807		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29365807C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1505C>A	1.37:g.29365807C>A	ENSP00000345259:p.Ala502Glu					EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E|EPB41_ENST00000347529.3_Missense_Mutation_p.A467E	p.A502E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	11	1632	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	502			Hydrophilic.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1505C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529116	0.85706	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.39	5.39	0.77823	FERM adjacent (FA) (1);	0.103054	0.64402	D	0.000003	D	0.89729	0.6799	L	0.40543	1.245	0.52099	D	0.999944	P;P;D;P;D;D;D;D;D;D	0.89917	0.827;0.777;0.992;0.827;0.981;0.99;0.992;0.99;1.0;0.967	P;P;D;P;P;P;D;P;D;P	0.87578	0.664;0.647;0.929;0.592;0.838;0.884;0.929;0.838;0.998;0.785	D	0.90520	0.4488	10	0.87932	D	0	.	18.5077	0.90904	0.0:1.0:0.0:0.0	.	396;502;502;502;502;502;519;467;293;293	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	E	519;502;502;502;396;502;293;293;467;502;502	ENSP00000345259:A502E;ENSP00000348397:A502E;ENSP00000381839:A502E;ENSP00000317597:A293E;ENSP00000362906:A293E;ENSP00000290100:A467E;ENSP00000362904:A502E;ENSP00000362903:A502E	ENSP00000345259:A502E	A	+	2	0	EPB41	29238394	0.969000	0.33509	0.996000	0.52242	0.984000	0.73092	2.361000	0.44160	2.687000	0.91594	0.650000	0.86243	GCG		0.428	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		16	70	1	0	1.02788e-11	1	1.06333e-11	16	70					A	29365807	C	A	29365807	3	1	71	1	0	0	0	0	1	0	0	0	5151	768	27	5	1543	5	EPB41	1	29365807	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	18666266	29365807	219884814	2	1324										
SRGAP2	23380	broad.mit.edu	37	chr1	206566110	206566110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	tcagagcaaactaaaggaggCggagaagcaggaggagaagc	16	6	1	3			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:206566110C>T	ENST00000414007.1	+	2	131	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	184	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CTAAAGGAGGCGGAGAAGCAG	0.557																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(130-132)gCg>gTg		SLIT-ROBO Rho GTPase activating protein 2							36	38	37					1																	206566110		2073	4219	6292	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566110C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"Rho GTPase activating proteins"	19751	protein-coding gene	gene with protein product		606524	"formin binding protein 2"	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.131C>T	1.37:g.206566110C>T	ENSP00000390898:p.Ala44Val					SRGAP2_ENST00000419187.2_5'UTR	p.A44V			O75044	FNBP2_HUMAN			2	131	+	Breast(84;0.137)		184			FCH.			Missense_Mutation	SNP	ENST00000414007.1	37	c.131C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.375691	0.95923	.	.	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.18338	2.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	.	.	.	0.80722	D	1.000000	D;P;P	0.89917	1.0;0.884;0.909	D;P;B	0.80764	0.994;0.699;0.233	T	0.29058	-1.0024	8	0.45353	T	0.12	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	31;184;184	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	V	98;44	ENSP00000390898:A44V	ENSP00000390898:A44V	A	+	2	0	SRGAP2	204632733	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.811000	0.86092	2.483000	0.83821	0.455000	0.32223	GCG		0.557	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		4	39	0	0	0	1	0	4	39					T	206566110	C	T	206566110	3	4	71	1	0	0	0	0	1	0	0	0	15145	768	27	1	301	1	SRGAP2	1	206566110	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	177200303	206566110	42684511	3	1325										
LYST	1130	broad.mit.edu	37	chr1	235969125	235969125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	ccagaagggcttccaaaagtCgtatactttgaagtgaggtc	11	8	0	3	rs148299757		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:235969125C>T	ENST00000389794.3	-	6	3485	c.3311G>A	c.(3310-3312)cGa>cAa	p.R1104Q	LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q|LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1104					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCCAAAAGTCGTATACTTTG	0.428													C|||	1	0.000199681	0	0	5008	,	,		13071	0		0.001	False		,,,				2504	0					ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3310-3312)cGa>cAa		lysosomal trafficking regulator		C	GLN/ARG	0,4406		0,0,2203	76	74	75		3311	5.6	1	1	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LYST	NM_000081.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	1104/3802	235969125	4,13002	2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969125C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3311G>A	1.37:g.235969125C>T	ENSP00000374444:p.Arg1104Gln					LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q|LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q	p.R1104Q			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3485	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1104					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3311G>A	CCDS31062.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.475629	0.96291	0.0	4.65E-4	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.66460	-0.21;-0.21;0.89	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81915	-0.0714	10	0.66056	D	0.02	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	1104;1104	Q99698-3;Q99698	.;LYST_HUMAN	Q	1104	ENSP00000374444:R1104Q;ENSP00000374443:R1104Q;ENSP00000438315:R1104Q	ENSP00000374443:R1104Q	R	-	2	0	LYST	234035748	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.905000	0.69893	2.605000	0.88082	0.563000	0.77884	CGA		0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			34	51	0	0	0	1	0	34	51					T	235969125	C	T	235969125	3	4	71	1	0	0	0	0	1	0	0	0	9128	884	31	2	8286	2	LYST	1	235969125	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	29403015	235969125	13281496	4	1326										
ILDR1	286676	broad.mit.edu	37	chr3	121720708	121720708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	cttcatttatcacgagatctGctcctacacagtaaggaggg	9	10	3	1			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr3:121720708G>A	ENST00000344209.5	-	4	509	c.383C>T	c.(382-384)gCa>gTa	p.A128V	ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V|ILDR1_ENST00000273691.3_Missense_Mutation_p.A128V|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	128	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CACGAGATCTGCTCCTACACA	0.517																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(382-384)gCa>gTa		immunoglobulin-like domain containing receptor 1							137	129	131					3																	121720708		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121720708G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.383C>T	3.37:g.121720708G>A	ENSP00000345667:p.Ala128Val					ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.A128V	p.A128V	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	488	-			128			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.383C>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229027	0.95173	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000462014	T;T;T	0.55930	0.49;0.49;0.49	5.14	5.14	0.70334	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.77169	-0.2686	10	0.87932	D	0	-12.5997	16.4898	0.84197	0.0:0.0:1.0:0.0	.	128;128;140	Q86SU0;Q86SU0-2;Q86SU0-6	ILDR1_HUMAN;.;.	V	128;128;140	ENSP00000273691:A128V;ENSP00000345667:A128V;ENSP00000419414:A140V	ENSP00000273691:A128V	A	-	2	0	ILDR1	123203398	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.208000	0.95075	2.837000	0.97791	0.655000	0.94253	GCA		0.517	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		16	34	0	0	0	1	0	16	34					A	121720708	G	A	121720708	3	1	71	1	0	0	0	0	1	0	0	0	7709	1319	46	3	1141	3	ILDR1	3	121720708	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		121720708	76301722	5	1327										
PCDHA1	56147	broad.mit.edu	37	chr5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	ccaggtgagcgcgcgggatgCgggcgtgccgcctctgggca	19	13	1	1			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1618-1620)gCg>gTg									62	67	66					5																	140167494		2203	4298	6501	SO:0001583	missense	56147							g.chr5:140167494C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1619C>T	5.37:g.140167494C>T	ENSP00000420840:p.Ala540Val					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	p.A540V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1619	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1619C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615636	0.66672	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53857	0.6;0.6	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.404731	0.17581	U	0.169114	T	0.62575	0.2439	L	0.53617	1.68	0.31041	N	0.71635	D;D	0.67145	0.995;0.996	P;P	0.56343	0.783;0.796	T	0.68697	-0.5340	10	0.87932	D	0	.	15.4054	0.74874	0.0:1.0:0.0:0.0	.	540;540	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	540	ENSP00000420840:A540V;ENSP00000367373:A540V	ENSP00000367373:A540V	A	+	2	0	PCDHA1	140147678	0.462000	0.25791	0.953000	0.39169	0.396000	0.30629	0.881000	0.28173	1.676000	0.50930	0.549000	0.68633	GCG		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		5	160	0	0	0	1	0	5	160					T	140167494	C	T	140167494	3	4	71	1	0	0	0	0	1	0	0	0	11519	768	27	1	1621	1	PCDHA1	5	140167494	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08		140167494	40747766	6	1328										
NOC3L	64318	broad.mit.edu	37	chr10	96112725	96112725	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	atatctttaaataactccatCagagaaacaattaccagctt	3	9	2	1			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr10:96112725C>G	ENST00000371361.3	-	7	886	c.786G>C	c.(784-786)ctG>ctC	p.L262L	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L|NOC3L_ENST00000543788.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	262					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATAACTCCATCAGAGAAACAA	0.333																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(784-786)ctG>ctC		nucleolar complex associated 3 homolog (S. cerevisiae)							96	103	101					10																	96112725		2203	4300	6503	SO:0001819	synonymous_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96112725C>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.786G>C	10.37:g.96112725C>G						NOC3L_ENST00000543788.1_5'UTR|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L	p.L262L	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			7	886	-		Colorectal(252;0.0897)	262					Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	c.786G>C	CCDS7433.1																																																																																				0.333	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		4	242	0	0	0	1	0	4	242					G	96112725	C	G	96112725	2	3	71	1	0	0	0	0	0	0	0	1	10514	813	29	5		5	NOC3L	10	96112725	Silent	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08		96112725	39422022	7	1329										
IGSF9B	22997	broad.mit.edu	37	chr11	133790306	133790306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	ggcccctgccgggcgacttgCctgcccaacccttcggtgcc	12	19	0	0			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr11:133790306C>T	ENST00000321016.8	-	18	3544	c.3314G>A	c.(3313-3315)gGc>gAc	p.G1105D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1105D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1105	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCGACTTGCCTGCCCAACC	0.706																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3313-3315)gGc>gAc		immunoglobulin superfamily, member 9B							26	28	28					11																	133790306		1902	4104	6006	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790306C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3314G>A	11.37:g.133790306C>T	ENSP00000317980:p.Gly1105Asp					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1105D	p.G1105D			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3544	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1105			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3314G>A		.	.	.	.	.	.	.	.	.	.	C	16.48	3.134431	0.56828	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.68025	0.03;-0.3	5.15	5.15	0.70609	.	0.000000	0.45606	D	0.000349	T	0.71771	0.3379	N	0.19112	0.55	0.45607	D	0.998542	D	0.76494	0.999	D	0.79108	0.992	T	0.75056	-0.3452	10	0.51188	T	0.08	.	18.2082	0.89861	0.0:1.0:0.0:0.0	.	1105	Q9UPX0	TUTLB_HUMAN	D	1105;947	ENSP00000317980:G1105D;ENSP00000436552:G947D	ENSP00000317980:G1105D	G	-	2	0	IGSF9B	133295516	1.000000	0.71417	0.999000	0.59377	0.633000	0.38033	5.693000	0.68264	2.394000	0.81467	0.455000	0.32223	GGC		0.706	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		3	45	0	0	0	1	0	3	45					T	133790306	C	T	133790306	3	4	71	1	0	0	0	0	1	0	0	0	7606	739	26	3	743	3	IGSF9B	11	133790306	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08		133790306	1216210	8	1330										
MMP15	4324	broad.mit.edu	37	chr16	58077523	58077523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	taaaggggccttcctgagcaAtgacgcaggtacctggccag	13	11	0	2			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:58077523A>G	ENST00000219271.3	+	9	2347	c.1562A>G	c.(1561-1563)aAt>aGt	p.N521S		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	521					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TTCCTGAGCAATGACGCAGGT	0.627																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1561-1563)aAt>aGt		matrix metallopeptidase 15 (membrane-inserted)							47	42	44					16																	58077523		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58077523A>G	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1562A>G	16.37:g.58077523A>G	ENSP00000219271:p.Asn521Ser						p.N521S	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			9	2347	+			521			Hemopexin-like 4.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1562A>G	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	A	2.890	-0.229793	0.06022	.	.	ENSG00000102996	ENST00000219271	T	0.02216	4.39	5.45	0.497	0.16902	Hemopexin/matrixin (2);	0.393945	0.27956	N	0.017162	T	0.00695	0.0023	N	0.00637	-1.305	0.09310	N	1	B	0.15141	0.012	B	0.28385	0.089	T	0.47861	-0.9084	10	0.06757	T	0.87	.	5.1881	0.15195	0.4465:0.2896:0.2639:0.0	.	521	P51511	MMP15_HUMAN	S	521	ENSP00000219271:N521S	ENSP00000219271:N521S	N	+	2	0	MMP15	56635024	0.791000	0.28800	0.909000	0.35828	0.877000	0.50540	1.925000	0.40074	0.072000	0.16694	0.533000	0.62120	AAT		0.627	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		8	11	0	0	0	1	0	8	11					G	58077523	A	G	58077523	3	3	71	1	0	0	0	0	1	0	0	0	9654	101	4	4	1596	4	MMP15	16	58077523	Missense_Mutation	SNP	A	TCGA-RW-A67W-01A-11D-A35D-08		58077523	32277230	9	1331										
MLKL	197259	broad.mit.edu	37	chr16	74725330	74725330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	atctccttgatttgctcttgCgggatctcctgcatgcattt	8	11	3	1			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:74725330C>T	ENST00000308807.7	-	4	1030	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTGCTCTTGCGGGATCTCCT	0.478																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(565-567)ccG>ccA		mixed lineage kinase domain-like							185	172	176					16																	74725330		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725330C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.567G>A	16.37:g.74725330C>T						MLKL_ENST00000306247.7_Intron	p.P189P	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			4	1030	-			189						Silent	SNP	ENST00000308807.7	37	c.567G>A	CCDS32487.1																																																																																				0.478	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		8	245	0	0	0	1	0	8	245					T	74725330	C	T	74725330	2	4	71	1	0	0	0	0	0	0	0	1	9619	755	27	1		1	MLKL	16	74725330	Silent	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	16647807	74725330	15629423	10	1332										
USP6	9098	broad.mit.edu	37	chr17	5074086	5074086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	cctttatgagcatgaagcatGtggcaatggctgtggcgatg	14	7	0	2	rs372010919		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr17:5074086G>A	ENST00000574788.1	+	36	6060	c.3830G>A	c.(3829-3831)tGt>tAt	p.C1277Y	USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.C960Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1277	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGAAGCATGTGGCAATGGC	0.522			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3829-3831)tGt>tAt		ubiquitin specific peptidase 6 (Tre-2 oncogene)		G	TYR/CYS	0,4406		0,0,2203	89	75	80		3830	1.5	1	17		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP6	NM_004505.2	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1277/1407	5074086	1,13005	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5074086G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3830G>A	17.37:g.5074086G>A	ENSP00000460380:p.Cys1277Tyr					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.C960Y|USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y	p.C1277Y			P35125	UBP6_HUMAN			36	6060	+			1277					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3830G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	4.201	0.035982	0.08148	0.0	1.16E-4	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.12774	3.06;2.65	2.49	1.49	0.22878	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.05777	0.0151	N	0.14661	0.345	0.35371	D	0.789046	B;B	0.22414	0.002;0.069	B;B	0.21708	0.006;0.036	T	0.30475	-0.9977	9	0.02654	T	1	.	6.9001	0.24277	0.1592:0.0:0.8407:0.0	.	960;1277	P35125-2;P35125	.;UBP6_HUMAN	Y	1277;960	ENSP00000250066:C1277Y;ENSP00000305473:C960Y	ENSP00000250066:C1277Y	C	+	2	0	USP6	5014810	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	2.970000	0.49240	1.400000	0.46741	0.184000	0.17185	TGT		0.522	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		5	93	0	0	0	1	0	5	93					A	5074086	G	A	5074086	3	1	71	1	0	0	0	0	1	0	0	0	17083	1377	48	3	3936	3	USP6	17	5074086	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		5074086	76121124	11	1333										
RYR1	6261	broad.mit.edu	37	chr19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	agtcaccacaggcgagatgcGcgtgggctgggcgaggcccg	18	12	1	1			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr19:38958370G>A	ENST00000359596.3	+	25	3299	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCGAGATGCGCGTGGGCTGG	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3298-3300)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88	75	79					19																	38958370		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958370G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3299G>A	19.37:g.38958370G>A	ENSP00000352608:p.Arg1100His					RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H	p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3430	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3299G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562473	0.65538	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71341	-0.56;-0.56;-0.56	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.87916	0.6298	H	0.95780	3.72	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91875	0.5511	10	0.87932	D	0	.	14.772	0.69688	0.0:0.0:1.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	H	1100	ENSP00000352608:R1100H;ENSP00000347667:R1100H;ENSP00000354254:R1100H	ENSP00000347667:R1100H	R	+	2	0	RYR1	43650210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.329000	0.96413	1.972000	0.57404	0.403000	0.27427	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	73	0	0	0	1	0	12	73					A	38958370	G	A	38958370	3	1	71	1	0	0	0	0	1	0	0	0	13768	1087	38	1	3397	1	RYR1	19	38958370	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		38958370	20170613	12	1334										
ZNF28	7576	broad.mit.edu	37	chr19	53303977	53303977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	tctctccagtatgaagcctaCgatggcgtgcaagggttgac	12	10	1	2	rs188751892		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr19:53303977C>T	ENST00000457749.2	-	4	1240	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ZNF28_ENST00000438150.2_Missense_Mutation_p.R321H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATGAAGCCTACGATGGCGTGC	0.383																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(961-963)cGt>cAt		zinc finger protein 28							88	91	90					19																	53303977		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303977C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1121G>A	19.37:g.53303977C>T	ENSP00000397693:p.Arg374His					ZNF28_ENST00000457749.2_Missense_Mutation_p.R374H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H	p.R321H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1855	-			374					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.962G>A	CCDS33093.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	-	2.913	-0.224912	0.06022	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	1.75	0.423	0.16463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	L	0.37850	1.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32719	-0.9896	9	0.39692	T	0.17	.	2.3666	0.04320	0.2389:0.1613:0.0:0.5998	.	374	P17035	ZNF28_HUMAN	H	321;374;321;321;321	ENSP00000412143:R321H;ENSP00000397693:R374H;ENSP00000353410:R321H;ENSP00000444965:R321H;ENSP00000375661:R321H	ENSP00000353410:R321H	R	-	2	0	ZNF28	57995789	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.331000	0.02672	-0.024000	0.13941	-1.043000	0.02367	CGT		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		4	172	0	0	0	1	0	4	172					T	53303977	C	T	53303977	3	4	71	1	0	0	0	0	1	0	0	0	17810	536	19	1	1039	1	ZNF28	19	53303977	Missense_Mutation	SNP	C	TCGA-RW-A67W-01A-11D-A35D-08	14345607	53303977	5825006	13	1335										
ERG	2078	broad.mit.edu	37	chr21	39817410	39817410	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	gacagccaatcctgctgaggGacgcgtgggctcatcttgga	14	11	2	1	rs371109394		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr21:39817410G>A	ENST00000417133.2	-	4	359	c.174C>T	c.(172-174)gtC>gtT	p.V58V	ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000453032.2_Intron|ERG_ENST00000442448.1_Silent_p.V58V|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000398897.1_Intron|ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398905.1_Silent_p.V51V	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCTGCTGAGGGACGCGTGGGC	0.562			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(172-174)gtC>gtT		v-ets avian erythroblastosis virus E26 oncogene homolog							110	89	96					21																	39817410		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39817410G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.174C>T	21.37:g.39817410G>A						ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000417133.2_Silent_p.V58V|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398905.1_Silent_p.V51V|ERG_ENST00000453032.2_Intron	p.V58V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			4	445	-		Prostate(19;3.6e-06)	58					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.174C>T	CCDS46648.1																																																																																				0.562	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		8	65	0	0	0	1	0	8	65					A	39817410	G	A	39817410	2	1	71	1	0	0	0	0	0	0	0	1	5222	1161	41	3		3	ERG	21	39817410	Silent	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		39817410	8312485	14	1336										
DEPDC5	9681	broad.mit.edu	37	chr22	32200859	32200859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	gagtgctccccgtgattctcGtctgggcgatgactataata	11	10	2	2	rs575467056		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr22:32200859G>A	ENST00000382112.3	+	16	1245	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H	DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R392H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	392					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTGATTCTCGTCTGGGCGAT	0.453																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1174-1176)cGt>cAt		DEP domain containing 5							210	198	202					22																	32200859		1902	4134	6036	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32200859G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1175G>A	22.37:g.32200859G>A	ENSP00000371546:p.Arg392His					DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H	p.R392H			O75140	DEPD5_HUMAN			17	1317	+			392					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1175G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064168	0.36373	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.46819	1.45;1.44;0.86;1.84;1.84;1.83;1.43;1.84;1.83;1.84	5.02	3.99	0.46301	.	0.157230	0.56097	D	0.000030	T	0.40448	0.1117	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B;B	0.26602	0.0;0.015;0.154;0.023;0.014;0.018	B;B;B;B;B;B	0.13407	0.0;0.003;0.009;0.004;0.003;0.007	T	0.20739	-1.0266	10	0.28530	T	0.3	.	13.8524	0.63506	0.0:0.0:0.8461:0.1539	.	392;364;392;392;392;392	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	392;364;392;392;392;392;392;392;392;392;392	ENSP00000440210:R392H;ENSP00000441358:R364H;ENSP00000383101:R392H;ENSP00000266091:R392H;ENSP00000383108:R392H;ENSP00000383105:R392H;ENSP00000371539:R392H;ENSP00000371546:R392H;ENSP00000371545:R392H;ENSP00000383107:R392H	ENSP00000266091:R392H	R	+	2	0	DEPDC5	30530859	0.994000	0.37717	0.910000	0.35882	0.994000	0.84299	5.735000	0.68587	1.094000	0.41399	0.543000	0.68304	CGT		0.453	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	178	0	0	0	1	0	4	178					A	32200859	G	A	32200859	3	1	71	1	0	0	0	0	1	0	0	0	4442	1145	40	1	1237	1	DEPDC5	22	32200859	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		32200859	19103707	15	1337										
DDX3X	1654	broad.mit.edu	37	chrX	41205821	41205821	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.125	2	1	1.19047619047619	7.73809523809524	0.64484126984127	1	1	0	tcaattttgacttgccaagtGatattgaagaatatgtacat	7	5	1	4			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chrX:41205821G>A	ENST00000399959.2	+	14	2416	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGCCAAGTGATATTGAAGA	0.363										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1561-1563)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							164	156	158					X																	41205821		2195	4300	6495	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205821G>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1561G>A	X.37:g.41205821G>A	ENSP00000382840:p.Asp521Asn	HNSCC(61;0.18)				DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	p.D521N	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			14	2416	+			521			Helicase C-terminal.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1561G>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453197	0.96223	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.73681	-0.77;-0.77	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	N	0.11756	0.17	0.80722	D	1	P;P;P	0.49961	0.471;0.93;0.93	B;P;P	0.54210	0.243;0.745;0.745	T	0.78137	-0.2321	10	0.87932	D	0	-1.2872	17.9414	0.89027	0.0:0.0:1.0:0.0	.	505;533;521	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	N	521;505	ENSP00000382840:D521N;ENSP00000392494:D505N	ENSP00000382840:D521N	D	+	1	0	DDX3X	41090765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.810000	0.99221	2.170000	0.68504	0.600000	0.82982	GAT		0.363	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		5	147	0	0	0	1	0	5	147					A	41205821	G	A	41205821	3	1	71	1	0	0	0	0	1	0	0	0	4358	1290	45	3	1615	3	DDX3X	23	41205821	Missense_Mutation	SNP	G	TCGA-RW-A67W-01A-11D-A35D-08		41205821	114064739	16	1338										
MAGOH	4116	broad.mit.edu	37	chr1	53692717	53692717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	tgtccacaccaatattcagtCtagattggtttaatcttgaa	6	8	3	2	rs200084732	byFrequency	TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		3	59	0	0	0	1	0	3	59					T	53692717	C	T	53692717	2	4	72	1	0	0	0	0	0	0	0	1	9194	924	32	3		3	MAGOH	1	53692717	Silent	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		53692717	195557904	1	1339										
NBPF14	25832	broad.mit.edu	37	chr1	148009411	148009411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	aaggcacttctgtagggctgGcatgagtcagtcagttcaag	13	8	4	1			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:148009411G>A	ENST00000369219.1	-	16	1912	c.1896C>T	c.(1894-1896)tgC>tgT	p.C632C				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	632	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGTAGGGCTGGCATGAGTCAG	0.483																																						ENST00000369219.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1894-1896)tgC>tgT		neuroblastoma breakpoint family, member 14							102	206	176					1																	148009411		1657	4052	5709	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148009411G>A	AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1896C>T	1.37:g.148009411G>A							p.C632C			Q5TI25	NBPFE_HUMAN			16	1912	-	all_hematologic(923;0.032)		632			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.1896C>T		.	.	.	.	.	.	.	.	.	.	g	2.161	-0.392157	0.04932	.	.	ENSG00000122497	ENST00000310701	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28808	-1.0032	1	.	.	.	.	.	.	.	.	.	.	.	V	638	.	.	A	-	2	0	NBPF14	146476035	0.973000	0.33851	.	.	.	.	0.748000	0.26305	.	.	.	.	GCC		0.483	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		6	836	0	0	0	1	0	6	836					A	148009411	G	A	148009411	2	1	72	1	0	0	0	0	0	0	0	1	10194	1195	42	3		3	NBPF14	1	148009411	Silent	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	94316694	148009411	101241210	2	1340										
FLG	2312	broad.mit.edu	37	chr1	152282306	152282306	+	Missense_Mutation	SNP	G	G	T													0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ggagctgtctgctgactgctGgtggcgggatccatgtcttt							TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152282306G>T	ENST00000368799.1	-	3	5091	c.5056C>A	c.(5056-5058)Cag>Aag	p.Q1686K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1686	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACTGCTGGTGGCGGGAT	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5056-5058)Cag>Aag		filaggrin							303	304	304					1																	152282306		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282306G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5056C>A	1.37:g.152282306G>T	ENSP00000357789:p.Gln1686Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q1686K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5091	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1686			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5056C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.304	0.241404	0.10077	.	.	ENSG00000143631	ENST00000368799	T	0.00724	5.78	3.46	-6.91	0.01649	.	.	.	.	.	T	0.00271	0.0008	M	0.63428	1.95	0.09310	N	1	P	0.37466	0.596	B	0.41619	0.361	T	0.43081	-0.9413	9	0.06757	T	0.87	.	3.997	0.09563	0.1228:0.1941:0.4999:0.1833	.	1686	P20930	FILA_HUMAN	K	1686	ENSP00000357789:Q1686K	ENSP00000357789:Q1686K	Q	-	1	0	FLG	150548930	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.238000	0.02919	-2.055000	0.00899	-0.840000	0.03056	CAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	475	1	0	0.00198382	1	0.00209718	7	475					T	152282306	G	T	152282306	3	4	72	1	0	0	0	0	1	0	0	0	5922	1357	47	5	7133	5	FLG	1	152282306	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	4272895	152282306	96968315	3	1341	10	2								
FLG	2312	broad.mit.edu	37	chr1	152282307	152282307	+	Missense_Mutation	SNP	G	G	T													0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	gagctgtctgctgactgctgGtggcgggatccatgtctttc							TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152282307G>T	ENST00000368799.1	-	3	5090	c.5055C>A	c.(5053-5055)caC>caA	p.H1685Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1685	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACTGCTGGTGGCGGGATC	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5053-5055)caC>caA		filaggrin							303	304	304					1																	152282307		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282307G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5055C>A	1.37:g.152282307G>T	ENSP00000357789:p.His1685Gln					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H1685Q	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5090	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1685			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5055C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088801	0.20390	.	.	ENSG00000143631	ENST00000368799	T	0.03951	3.75	3.46	-3.93	0.04143	.	.	.	.	.	T	0.03220	0.0094	L	0.60455	1.87	0.09310	N	1	D	0.54772	0.968	D	0.72625	0.978	T	0.28299	-1.0048	9	0.12430	T	0.62	.	1.1919	0.01867	0.2799:0.1562:0.4067:0.1573	.	1685	P20930	FILA_HUMAN	Q	1685	ENSP00000357789:H1685Q	ENSP00000357789:H1685Q	H	-	3	2	FLG	150548931	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.058000	0.11750	-0.651000	0.05415	0.306000	0.20318	CAC		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	473	1	0	0.000157383	1	0.00017127	7	473					T	152282307	G	T	152282307	3	4	72	1	0	0	0	0	1	0	0	0	5922	1252	44	5	7134	5	FLG	1	152282307	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	1	152282307	96968314	4	1342	10	2								
LCE2B	26239	broad.mit.edu	37	chr1	152659492	152659492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ctctgggggctgctgtggtcCcagctctgggggctgctgca	17	12	2	0			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr1:152659492C>A	ENST00000368780.3	+	2	227	c.173C>A	c.(172-174)cCc>cAc	p.P58H	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTCCCAGCTCTGGG	0.667																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(172-174)cCc>cAc		late cornified envelope 2B							103	119	113					1																	152659492		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659492C>A	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.173C>A	1.37:g.152659492C>A	ENSP00000357769:p.Pro58His					LCE2B_ENST00000417924.2_Missense_Mutation_p.P58H	p.P58H	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	227	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.173C>A	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.171	-1.071260	0.01918	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.04049	3.72;3.72	2.49	0.482	0.16815	.	.	.	.	.	T	0.01627	0.0052	L	0.50333	1.59	0.19945	N	0.999943	B	0.20164	0.042	B	0.17098	0.017	T	0.44498	-0.9324	9	0.87932	D	0	.	4.5339	0.12019	0.0:0.6472:0.0:0.3528	.	58	O14633	LCE2B_HUMAN	H	58	ENSP00000414043:P58H;ENSP00000357769:P58H	ENSP00000357769:P58H	P	+	2	0	LCE2B	150926116	0.030000	0.19436	0.139000	0.22197	0.053000	0.15095	0.161000	0.16481	-0.140000	0.11394	0.313000	0.20887	CCC		0.667	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		9	199	1	0	1.08611e-07	1	1.25581e-07	9	199					A	152659492	C	A	152659492	3	1	72	1	0	0	0	0	1	0	0	0	8666	623	22	5	175	5	LCE2B	1	152659492	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	377185	152659492	96591129	5	1343										
GALNT13	114805	broad.mit.edu	37	chr2	155102328	155102328	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ttttaatttctctgcaggaaAacggttgtctgccctatcat	7	9	3	0			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr2:155102328A>G	ENST00000392825.3	+	7	1257	c.690A>G	c.(688-690)aaA>aaG	p.K230K	GALNT13_ENST00000409237.1_Silent_p.K230K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	230					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCTGCAGGAAAACGGTTGTCT	0.318																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(688-690)aaA>aaG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							115	114	114					2																	155102328		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102328A>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.690A>G	2.37:g.155102328A>G						GALNT13_ENST00000409237.1_Silent_p.K230K	p.K230K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			7	1257	+			230					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.690A>G	CCDS2199.1																																																																																				0.318	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		4	99	0	0	0	1	0	4	99					G	155102328	A	G	155102328	2	3	72	1	0	0	0	0	0	0	0	1	6211	11	1	4		4	GALNT13	2	155102328	Silent	SNP	A	TCGA-RW-A67X-01A-11D-A35D-08		155102328	88097045	6	1344										
CRYGC	1420	broad.mit.edu	37	chr2	208993026	208993026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	tggggcctcagcaggtattgCcgcccccggtagttgggcag	16	12	1	0			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr2:208993026C>T	ENST00000282141.3	-	3	463	c.426G>A	c.(424-426)cgG>cgA	p.R142R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	142	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(424-426)cgG>cgA		crystallin, gamma C							55	58	57					2																	208993026		2203	4300	6503	SO:0001819	synonymous_variant	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208993026C>T		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.426G>A	2.37:g.208993026C>T							p.R142R	NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	463	-			142			Beta/gamma crystallin 'Greek key' 4.		Q53R50	Silent	SNP	ENST00000282141.3	37	c.426G>A	CCDS2379.1																																																																																				0.622	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		4	98	0	0	0	1	0	4	98					T	208993026	C	T	208993026	2	4	72	1	0	0	0	0	0	0	0	1	3916	726	26	3		3	CRYGC	2	208993026	Silent	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	53890698	208993026	34206347	7	1345										
VHL	7428	broad.mit.edu	37	chr3	10188230	10188231	+	In_Frame_Ins	INS	-	-	ACG													0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	cttcagagatgcagggacacINSacgatgggcttctggttaac					rs375401722		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:10188230_10188231insACG	ENST00000256474.2	+	2	1213_1214	c.373_374insACG	c.(373-375)cac>cACGac	p.126_127insD	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	126	Involved in binding to CCT complex.		D -> Y (in ECYT2). {ECO:0000269|PubMed:12393546}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGCAGGGACACACGATGGGCTT	0.5		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"D, Mis, N, F, S"	von Hippel-Lindau syndrome gene			"E, M, O"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"		4	Deletion - Frameshift(4)	p.H125fs*6(1)|p.H125fs*34(1)|p.R120fs*34(1)|p.H125fs*27(1)	kidney(4)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CI071465	VHL	I		c.(373-375)cga>ACGcga		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase																																				SO:0001652	inframe_insertion	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188230_10188231insACG	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor"			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.374_376dupACG	3.37:g.10188231_10188233dupACG	ENSP00000256474:p.Asp126_Asp126dup					VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.124_125insT	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1213_1214	+			124			Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	In_Frame_Ins	INS	ENST00000256474.2	37	c.373_374insACG	CCDS2597.1																																																																																				0.5	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		40	101						40	101	---	---	---	---	ACG	10188231	-	ACG	10188230	7	5	72	1	0	1	1	0	0	0	0	0	17159	478	17	0	379	0	VHL	3	10188230	In_Frame_Ins	INS	-	TCGA-RW-A67X-01A-11D-A35D-08		10188230	187834200	8	1346										
NKTR	4820	broad.mit.edu	37	chr3	42687435	42687435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	accgaagttactctcatcacCggagccccagtgagagcagc	10	14	2	1	rs201167801		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:42687435C>T	ENST00000232978.8	+	17	4545	c.4357C>T	c.(4357-4359)Cgg>Tgg	p.R1453W	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1453					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTCTCATCACCGGAGCCCCAG	0.353																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(4357-4359)Cgg>Tgg		natural killer-tumor recognition sequence							61	64	63					3																	42687435		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42687435C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4357C>T	3.37:g.42687435C>T	ENSP00000232978:p.Arg1453Trp					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.R1453W	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	17	4545	+			1453						Missense_Mutation	SNP	ENST00000232978.8	37	c.4357C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092034	0.55968	.	.	ENSG00000114857	ENST00000232978	T	0.21734	1.99	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.45293	-0.9271	10	0.87932	D	0	-9.2383	14.2711	0.66152	0.3829:0.6171:0.0:0.0	.	1153;1453	Q6M1B8;P30414	.;NKTR_HUMAN	W	1453	ENSP00000232978:R1453W	ENSP00000232978:R1453W	R	+	1	2	NKTR	42662439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.740000	0.38228	1.509000	0.48786	0.655000	0.94253	CGG		0.353	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		3	22	0	0	0	1	0	3	22					T	42687435	C	T	42687435	3	4	72	1	0	0	0	0	1	0	0	0	10448	643	23	2	4419	2	NKTR	3	42687435	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	32499205	42687435	155334995	9	1347										
ZPLD1	131368	broad.mit.edu	37	chr3	102196341	102196341	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	catcaccagcgcactgatatCaggaatggtcattctgggag	11	10	4	1			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:102196341C>A	ENST00000491959.1	+	18	2009	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*	ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.S392*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376*			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	376						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GCACTGATATCAGGAATGGTC	0.473																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(1174-1176)tCa>tAa		zona pellucida-like domain containing 1							220	216	217					3																	102196341		2203	4300	6503	SO:0001587	stop_gained	131368					integral to membrane		g.chr3:102196341C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1127C>A	3.37:g.102196341C>A	ENSP00000420265:p.Ser376*					ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.S376*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.S376*	p.S392*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			11	1275	+			376					Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37	c.1175C>A		.	.	.	.	.	.	.	.	.	.	C	38	7.059394	0.98036	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.97	5.09	0.68999	.	0.130110	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.61	15.589	0.76510	0.0:0.9329:0.0:0.0671	.	.	.	.	X	376;392;376	.	ENSP00000307801:S392X	S	+	2	0	ZPLD1	103679031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.454000	0.66651	2.831000	0.97527	0.655000	0.94253	TCA		0.473	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		7	202	1	0	8.12818e-05	1	9.11342e-05	7	202					A	102196341	C	A	102196341	4	1	72	1	0	0	0	0	0	1	0	0	18218	838	29	5	1217	5	ZPLD1	3	102196341	Nonsense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	59508906	102196341	95826089	10	1348										
ATP11B	23200	broad.mit.edu	37	chr3	182614548	182614548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	tcatggttattacagtcacaGtaaaggtatggtactgaaat	9	5	2	1			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr3:182614548G>A	ENST00000323116.5	+	26	3303	c.3043G>A	c.(3043-3045)Gta>Ata	p.V1015I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1015					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TACAGTCACAGTAAAGGTATG	0.333																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(3043-3045)Gta>Ata		ATPase, class VI, type 11B							230	225	227					3																	182614548		2203	4299	6502	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182614548G>A	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3043G>A	3.37:g.182614548G>A	ENSP00000321195:p.Val1015Ile						p.V1015I	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		26	3303	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1015					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.3043G>A	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372406	0.42003	.	.	ENSG00000058063	ENST00000323116;ENST00000482070	T;T	0.39997	1.05;1.05	5.66	5.66	0.87406	.	0.436377	0.24864	N	0.034986	T	0.19967	0.0480	N	0.03983	-0.305	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.07501	-1.0769	10	0.56958	D	0.05	.	7.4075	0.27000	0.1999:0.0:0.8001:0.0	.	589;1015	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	I	1015;230	ENSP00000321195:V1015I;ENSP00000417124:V230I	ENSP00000321195:V1015I	V	+	1	0	ATP11B	184097242	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	1.144000	0.31565	2.663000	0.90544	0.557000	0.71058	GTA		0.333	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	109	0	0	0	1	0	4	109					A	182614548	G	A	182614548	3	1	72	1	0	0	0	0	1	0	0	0	1120	1029	36	3	3145	3	ATP11B	3	182614548	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08	80418207	182614548	15407882	11	1349										
ADAMTS3	9508	broad.mit.edu	37	chr4	73280586	73280586	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	agcctgttctacagctgatcTcttgtagacaacatgaatcc	7	11	2	3			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr4:73280586T>A	ENST00000286657.4	-	4	643	c.607A>T	c.(607-609)Aga>Tga	p.R203*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	203					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAGCTGATCTCTTGTAGACA	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(607-609)Aga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 3							168	162	164					4																	73280586		2203	4300	6503	SO:0001587	stop_gained	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73280586T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.607A>T	4.37:g.73280586T>A	ENSP00000286657:p.Arg203*						p.R203*	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	643	-			203					A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	c.607A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	37	6.200075	0.97371	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9151	0.47131	0.0:0.0:0.169:0.831	.	.	.	.	X	203	.	ENSP00000286657:R203X	R	-	1	2	ADAMTS3	73499450	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.773000	0.47686	1.937000	0.56155	0.533000	0.62120	AGA		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			26	151	0	0	0	1	0	26	151					A	73280586	T	A	73280586	4	1	72	1	0	0	0	0	0	1	0	0	267	1559	54	5	3086	5	ADAMTS3	4	73280586	Nonsense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		73280586	117873690	12	1350										
SLC9A3	6550	broad.mit.edu	37	chr5	482200	482200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	tacgcgcccgtgcagcttctCgttgagccgaggttcccggt	13	14	1	1			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr5:482200C>T	ENST00000264938.3	-	8	1438	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	477					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCAGCTTCTCGTTGAGCCGA	0.682																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1429-1431)Gag>Aag		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							36	34	34					5																	482200		2202	4299	6501	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482200C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1429G>A	5.37:g.482200C>T	ENSP00000264938:p.Glu477Lys					SLC9A3_ENST00000514375.1_Missense_Mutation_p.E468K	p.E477K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1438	-			477					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1429G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701188	0.68501	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.59772	0.67;0.24	4.0	4.0	0.46444	.	0.118078	0.56097	D	0.000022	T	0.78097	0.4230	M	0.86502	2.82	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	D	0.83859	0.0267	10	0.87932	D	0	.	16.0686	0.80907	0.0:1.0:0.0:0.0	.	468;477	E9PF67;P48764	.;SL9A3_HUMAN	K	477;468	ENSP00000264938:E477K;ENSP00000422983:E468K	ENSP00000264938:E477K	E	-	1	0	SLC9A3	535200	1.000000	0.71417	0.983000	0.44433	0.244000	0.25665	5.617000	0.67716	1.942000	0.56320	0.555000	0.69702	GAG		0.682	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		6	24	0	0	0	1	0	6	24					T	482200	C	T	482200	3	4	72	1	0	0	0	0	1	0	0	0	14713	893	31	2	1115	2	SLC9A3	5	482200	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		482200	180433060	13	1351										
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	10	8	2	0	rs369142492		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160	160	160		470,470,470	3.3	1	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg					BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		5	211	0	0	0	1	0	5	211					C	105573335	T	C	105573335	3	2	72	1	0	0	0	0	1	0	0	0	1575	1609	56	4	632	4	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		105573335	65541732	14	1352										
CYP2C9	1559	broad.mit.edu	37	chr10	96702050	96702050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	agaggagcattgaggaccgtGttcaagaggaagcccgctgc	15	9	1	3			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr10:96702050G>A	ENST00000260682.6	+	3	445	c.433G>A	c.(433-435)Gtt>Att	p.V145I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	145					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAGGACCGTGTTCAAGAGGA	0.493																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(433-435)Gtt>Att		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						156	147	150					10																	96702050		2203	4297	6500	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96702050G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.433G>A	10.37:g.96702050G>A	ENSP00000260682:p.Val145Ile					CYP2C9_ENST00000461906.1_3'UTR	p.V145I	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	3	445	+		Colorectal(252;0.0902)	145					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.433G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	1.679	-0.507087	0.04231	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69175	-0.38	3.54	-1.16	0.09678	.	0.078591	0.48767	U	0.000164	T	0.34658	0.0905	N	0.04260	-0.245	0.27866	N	0.940223	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.28638	0.019;0.019;0.092	T	0.38045	-0.9679	10	0.02654	T	1	.	7.8522	0.29462	0.5606:0.0:0.4394:0.0	.	145;145;145	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	I	145	ENSP00000260682:V145I	ENSP00000260682:V145I	V	+	1	0	CYP2C9	96692040	0.093000	0.21703	0.078000	0.20375	0.840000	0.47671	0.495000	0.22483	-0.373000	0.07979	0.484000	0.47621	GTT		0.493	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		5	162	0	0	0	1	0	5	162					A	96702050	G	A	96702050	3	1	72	1	0	0	0	0	1	0	0	0	4168	1377	48	3	443	3	CYP2C9	10	96702050	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08		96702050	38832697	15	1353										
GDPD5	81544	broad.mit.edu	37	chr11	75160628	75160628	+	Frame_Shift_Del	DEL	C	C	-													0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	catggtgactgctgccacagCccccacatgcaggaatggcg							TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr11:75160628delC	ENST00000336898.3	-	8	1339	c.502delG	c.(502-504)gctfs	p.A168fs	GDPD5_ENST00000376282.3_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000526177.1_Frame_Shift_Del_p.A30fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.A168fs|GDPD5_ENST00000533784.1_Frame_Shift_Del_p.A49fs	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	168					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GCTGCCACAGCCCCCACATGC	0.627																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(88-90)ctfs		glycerophosphodiester phosphodiesterase domain containing 5							37	33	34					11																	75160628		2198	4289	6487	SO:0001589	frameshift_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160628delC	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.502delG	11.37:g.75160628delC	ENSP00000337972:p.Ala168fs					GDPD5_ENST00000533784.1_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000376282.3_Frame_Shift_Del_p.A49fs|GDPD5_ENST00000529721.1_Frame_Shift_Del_p.A168fs|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Frame_Shift_Del_p.A168fs	p.A30fs			Q8WTR4	GDPD5_HUMAN			4	1966	-			168					Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Frame_Shift_Del	DEL	ENST00000336898.3	37	c.88delG	CCDS8238.1																																																																																				0.627	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		2	4						2	4	---	---	---	---	-	75160628	C	-	75160628	7	5	72	1	0	1	0	1	0	0	0	0	6327	739	26	0	1355	0	GDPD5	11	75160628	Frame_Shift_Del	DEL	C	TCGA-RW-A67X-01A-11D-A35D-08		75160628	59845888	16	1354										
LRP1	4035	broad.mit.edu	37	chr12	57554807	57554807	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	agtgctttggcccaatgggcTaagcctggacatcccggctg	13	12	0	0			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr12:57554807T>C	ENST00000243077.3	+	13	2577	c.2111T>C	c.(2110-2112)cTa>cCa	p.L704P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	704					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCAATGGGCTAAGCCTGGAC	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2110-2112)cTa>cCa		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						159	145	150					12																	57554807		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57554807T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2111T>C	12.37:g.57554807T>C	ENSP00000243077:p.Leu704Pro						p.L704P	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	13	2577	+			704					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2111T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402943	0.62288	.	.	ENSG00000123384	ENST00000243077	D	0.97598	-4.45	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000040	D	0.98871	0.9618	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99457	1.0942	10	0.87932	D	0	.	13.3416	0.60549	0.0:0.0:0.0:1.0	.	704	Q07954	LRP1_HUMAN	P	704	ENSP00000243077:L704P	ENSP00000243077:L704P	L	+	2	0	LRP1	55841074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.317000	0.78254	0.460000	0.39030	CTA		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	149	0	0	0	1	0	12	149					C	57554807	T	C	57554807	3	2	72	1	0	0	0	0	1	0	0	0	8951	1522	53	4	2161	4	LRP1	12	57554807	Missense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		57554807	76297088	17	1355										
KL	9365	broad.mit.edu	37	chr13	33635727	33635727	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	caagaaatgaccgacatcacGtggctcaactcccccagtca	7	15	3	2	rs36012519	byFrequency	TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr13:33635727G>A	ENST00000380099.3	+	4	2519	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	837	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCGACATCACGTGGCTCAACT	0.473																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2509-2511)acG>acA		klotho		G		0,4406		0,0,2203	92	91	91		2511	-12.1	0	13	dbSNP_126	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KL	NM_004795.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		837/1013	33635727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635727G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2511G>A	13.37:g.33635727G>A						KL_ENST00000487852.1_3'UTR	p.T837T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2519	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	837			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2511G>A	CCDS9347.1																																																																																				0.473	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			22	70	0	0	0	1	0	22	70					A	33635727	G	A	33635727	2	1	72	1	0	0	0	0	0	0	0	1	8331	1132	40	1		1	KL	13	33635727	Silent	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08		33635727	81534151	18	1356										
CNTNAP4	85445	broad.mit.edu	37	chr16	76569593	76569593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	agcagctatgggaagttatgCcgcaatggagggaaatgcag	15	6	0	0			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr16:76569593C>T	ENST00000476707.1	+	17	3055	c.2916C>T	c.(2914-2916)tgC>tgT	p.C972C	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.C968C|CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000377504.4_Silent_p.C920C			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	969	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAAGTTATGCCGCAATGGAG	0.498																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2902-2904)tgC>tgT		contactin associated protein-like 4							67	73	71					16																	76569593		2108	4252	6360	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76569593C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2916C>T	16.37:g.76569593C>T						CNTNAP4_ENST00000478060.1_Silent_p.C896C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.C972C|CNTNAP4_ENST00000377504.4_Silent_p.C920C	p.C968C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			19	3289	+			969			EGF-like 2.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2904C>T																																																																																					0.498	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		3	39	0	0	0	1	0	3	39					T	76569593	C	T	76569593	2	4	72	1	0	0	0	0	0	0	0	1	3649	747	26	3		3	CNTNAP4	16	76569593	Silent	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		76569593	13785160	19	1357										
TEKT1	83659	broad.mit.edu	37	chr17	6704168	6704168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ggtgtgtcctggtctccaagCgcgtatgagccaccttggct	13	12	1	1			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:6704168C>T	ENST00000338694.2	-	7	1076	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	316						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GGTCTCCAAGCGCGTATGAGC	0.507											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(946-948)cGc>cAc		tektin 1							210	197	202					17																	6704168		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704168C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.947G>A	17.37:g.6704168C>T	ENSP00000341346:p.Arg316His		OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Missense_Mutation_p.R170H	p.R316H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1076	-		Myeloproliferative disorder(207;0.0255)	316					D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.947G>A	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590219	0.86851	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.26660	1.72;1.72	5.85	5.85	0.93711	.	0.051026	0.85682	D	0.000000	T	0.64594	0.2612	H	0.94385	3.53	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73461	-0.3975	10	0.87932	D	0	.	18.0364	0.89305	0.0:1.0:0.0:0.0	.	316	Q969V4	TEKT1_HUMAN	H	316;170	ENSP00000341346:R316H;ENSP00000444142:R170H	ENSP00000341346:R316H	R	-	2	0	TEKT1	6644892	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	5.523000	0.67099	2.941000	0.99782	0.655000	0.94253	CGC		0.507	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		8	161	0	0	0	1	0	8	161					T	6704168	C	T	6704168	3	4	72	1	0	0	0	0	1	0	0	0	15749	768	27	1	317	1	TEKT1	17	6704168	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08		6704168	74491042	20	1358										
LHX1	3975	broad.mit.edu	37	chr17	35298029	35298029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	gtagcaacgagaatgacgacCagaacctgggcgccaagcgg	14	11	0	3			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:35298029C>A	ENST00000254457.5	+	3	1931	c.520C>A	c.(520-522)Cag>Aag	p.Q174K	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	174					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GAATGACGACCAGAACCTGGG	0.642																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(520-522)Cag>Aag		LIM homeobox 1							47	51	49					17																	35298029		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298029C>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.520C>A	17.37:g.35298029C>A	ENSP00000254457:p.Gln174Lys					RP11-445F12.2_ENST00000607336.1_RNA	p.Q174K	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			3	1931	+		Breast(25;0.00607)	174					Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.520C>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544872	0.65198	.	.	ENSG00000132130	ENST00000254457	D	0.95622	-3.76	4.26	4.26	0.50523	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.93779	0.8011	L	0.55990	1.75	0.80722	D	1	P;D	0.58970	0.629;0.984	B;P	0.47673	0.218;0.554	D	0.91772	0.5428	10	0.06236	T	0.91	.	17.9822	0.89145	0.0:1.0:0.0:0.0	.	160;174	B4DPA6;P48742	.;LHX1_HUMAN	K	174	ENSP00000254457:Q174K	ENSP00000254457:Q174K	Q	+	1	0	LHX1	32372142	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.809000	0.69172	2.648000	0.89879	0.561000	0.74099	CAG		0.642	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		13	30	1	0	1.37285e-15	1	1.63857e-15	13	30					A	35298029	C	A	35298029	3	1	72	1	0	0	0	0	1	0	0	0	8770	595	21	5	530	5	LHX1	17	35298029	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	28593861	35298029	45897181	21	1359										
KRT37	8688	broad.mit.edu	37	chr17	39578677	39578677	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ccccagctgactcctcagaaTctttacttcctgcagaaatg	6	14	2	3			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:39578677T>C	ENST00000225550.3	-	4	741	c.742A>G	c.(742-744)Att>Gtt	p.I248V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	248	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTCCTCAGAATCTTTACTTCC	0.557																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(742-744)Att>Gtt		keratin 37							124	125	125					17																	39578677		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578677T>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.742A>G	17.37:g.39578677T>C	ENSP00000225550:p.Ile248Val					AC003958.2_ENST00000432258.1_RNA	p.I248V	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			4	741	-		Breast(137;0.000496)	248			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.742A>G	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	2.430	-0.331069	0.05314	.	.	ENSG00000108417	ENST00000225550	D	0.88354	-2.37	4.95	2.58	0.30949	Filament (1);	0.598021	0.14463	N	0.318076	T	0.67505	0.2900	N	0.01761	-0.735	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.56323	-0.7998	10	0.30078	T	0.28	.	1.3481	0.02167	0.3042:0.0866:0.1578:0.4515	.	248	O76014	KRT37_HUMAN	V	248	ENSP00000225550:I248V	ENSP00000225550:I248V	I	-	1	0	KRT37	36832203	0.000000	0.05858	0.006000	0.13384	0.970000	0.65996	-2.058000	0.01394	0.182000	0.20032	0.533000	0.62120	ATT		0.557	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	134	0	0	0	1	0	4	134					C	39578677	T	C	39578677	3	2	72	1	0	0	0	0	1	0	0	0	8474	1435	50	4	623	4	KRT37	17	39578677	Missense_Mutation	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08	4280648	39578677	41616533	22	1360										
EVPL	2125	broad.mit.edu	37	chr17	74005109	74005109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	cacctcctcatccaggctccCgctcagccggctgtgctcct	8	20	2	0			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:74005109C>T	ENST00000301607.3	-	22	4430	c.4177G>A	c.(4177-4179)Ggg>Agg	p.G1393R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1393	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGGCTCCCGCTCAGCCGG	0.692																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4177-4179)Ggg>Agg		envoplakin							48	54	52					17																	74005109		2194	4278	6472	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005109C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4177G>A	17.37:g.74005109C>T	ENSP00000301607:p.Gly1393Arg					EVPL_ENST00000586740.1_Missense_Mutation_p.G1415R	p.G1393R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4430	-			1393			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4177G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.471710	0.00167	.	.	ENSG00000167880	ENST00000301607	T	0.38401	1.14	5.55	1.31	0.21738	.	0.586399	0.17556	N	0.169995	T	0.05318	0.0141	N	0.00112	-2.095	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36261	-0.9755	10	0.05351	T	0.99	-11.6658	2.8808	0.05646	0.1306:0.1151:0.4031:0.3512	.	1415;1393	B7ZLH8;Q92817	.;EVPL_HUMAN	R	1393	ENSP00000301607:G1393R	ENSP00000301607:G1393R	G	-	1	0	EVPL	71516704	0.739000	0.28196	0.276000	0.24689	0.154000	0.21943	1.066000	0.30604	0.047000	0.15862	-0.128000	0.14901	GGG		0.692	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	73	0	0	0	1	0	4	73					T	74005109	C	T	74005109	3	4	72	1	0	0	0	0	1	0	0	0	5292	652	23	2	1928	2	EVPL	17	74005109	Missense_Mutation	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	34426432	74005109	7190101	23	1361										
ANAPC11	51529	broad.mit.edu	37	chr17	79857351	79857351	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	gatgcacgtctccttggtgcCttgaccattcatgtgacctt	9	12	2	2			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr17:79857351C>A	ENST00000575195.2	+	2	289				NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578550.1_Intron|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000357385.3_Missense_Mutation_p.L115I|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000572639.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCTTGGTGCCTTGACCATTC	0.542																																						ENST00000357385.3																			0				kidney(1)|lung(1)	2						c.(343-345)Ctt>Att		anaphase promoting complex subunit 11							123	104	111					17																	79857351		2203	4300	6503	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857351C>A	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"Anaphase promoting complex subunits"	14452	protein-coding gene	gene with protein product		614534	"anaphase promoting complex subunit 11 (yeast APC11 homolog)"			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-445C>A	17.37:g.79857351C>A						ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron	p.L115I	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	479	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	c.343C>A	CCDS11789.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366922	0.41902	.	.	ENSG00000141552	ENST00000357385	.	.	.	1.93	0.564	0.17302	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	1	P	0.36354	0.549	B	0.34779	0.189	T	0.19095	-1.0316	7	0.66056	D	0.02	-26.5647	3.3237	0.07059	0.0:0.5897:0.0:0.4103	.	115	Q9NYG5-2	.	I	115	.	ENSP00000349957:L115I	L	+	1	0	ANAPC11	77450643	0.002000	0.14202	0.000000	0.03702	0.347000	0.29111	-0.224000	0.09164	0.174000	0.19809	0.462000	0.41574	CTT		0.542	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		3	47	1	0	0.115264	1	0.118466	3	47					A	79857351	C	A	79857351	1	1	72	0	1	0	0	0	0	0	0	0	600	681	24	5		5	ANAPC11	17	79857351	Intron	SNP	C	TCGA-RW-A67X-01A-11D-A35D-08	5852242	79857351	1337859	24	1362										
ANKRD30B	374860	broad.mit.edu	37	chr18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	cagaatccaaacaaaaggacGatgaagaaaattcttgggat	9	6	1	3	rs372948852		TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171	145	152					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		4	97	1	0	0.150653	1	0.150653	4	97					T	14787073	G	T	14787073	3	4	72	1	0	0	0	0	1	0	0	0	659	1058	37	5	1766	5	ANKRD30B	18	14787073	Missense_Mutation	SNP	G	TCGA-RW-A67X-01A-11D-A35D-08		14787073	63290175	25	1363										
DCC	1630	broad.mit.edu	37	chr18	50734159	50734159	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ggtccgggcgtctctactgaTgatataacagtggttacact	11	9	1	2			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr18:50734159T>C	ENST00000442544.2	+	11	2449	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	DCC_ENST00000412726.1_Silent_p.D459D|DCC_ENST00000581580.1_Silent_p.D266D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	611	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCTACTGATGATATAACAG	0.348																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1831-1833)gaT>gaC		deleted in colorectal carcinoma							133	138	136					18																	50734159		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734159T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1833T>C	18.37:g.50734159T>C						DCC_ENST00000581580.1_Silent_p.D266D|DCC_ENST00000412726.1_Silent_p.D459D	p.D611D	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2449	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	611			Fibronectin type-III 2.			Silent	SNP	ENST00000442544.2	37	c.1833T>C	CCDS11952.1																																																																																				0.348	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		7	299	0	0	0	1	0	7	299					C	50734159	T	C	50734159	2	2	72	1	0	0	0	0	0	0	0	1	4282	1461	51	4		4	DCC	18	50734159	Silent	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08	35947086	50734159	27343089	26	1364										
ZNF70	7621	broad.mit.edu	37	chr22	24087097	24087097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.63764404609475	NA	0.63764404609475	1	1	0	ctggttcctggggggatactTtgatgctgaacagggcttga	15	7	0	3			TCGA-RW-A67X-01A-11D-A35D-08	TCGA-RW-A67X-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eea2062-5429-4e22-bdc1-0633ba6d15d5	c4c63c30-268c-46a8-8091-d32d9372314d	g.chr22:24087097T>C	ENST00000341976.3	-	2	691	c.231A>G	c.(229-231)caA>caG	p.Q77Q		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGGGGATACTTTGATGCTGAA	0.493																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(229-231)caA>caG		zinc finger protein 70							135	132	133					22																	24087097		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087097T>C	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"Zinc fingers, C2H2-type"	13140	protein-coding gene	gene with protein product		194544	"zinc finger protein 70 (Cos17)"			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.231A>G	22.37:g.24087097T>C							p.Q77Q	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	691	-			77						Silent	SNP	ENST00000341976.3	37	c.231A>G	CCDS13812.1																																																																																				0.493	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		22	69	0	0	0	1	0	22	69					C	24087097	T	C	24087097	2	2	72	1	0	0	0	0	0	0	0	1	18100	1838	64	4		4	ZNF70	22	24087097	Silent	SNP	T	TCGA-RW-A67X-01A-11D-A35D-08		24087097	27217469	27	1365										
ZNF683	257101	broad.mit.edu	37	chr1	26688343	26688343	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	agagaggccaggggcagctgGgtgtgcaccaggccacaggg	19	10	0	1			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr1:26688343G>T	ENST00000436292.1	-	7	1494	c.1374C>A	c.(1372-1374)acC>acA	p.T458T	ZNF683_ENST00000403843.1_Silent_p.T458T|ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000374204.1_Silent_p.T438T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	458					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGCAGCTGGGTGTGCACCA	0.617																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1372-1374)acC>acA		zinc finger protein 683							63	64	63					1																	26688343		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688343G>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1374C>A	1.37:g.26688343G>T						ZNF683_ENST00000349618.3_Silent_p.T438T|ZNF683_ENST00000403843.1_Silent_p.T458T|ZNF683_ENST00000374204.1_Silent_p.T438T	p.T458T			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1494	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	458					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.1374C>A																																																																																					0.617	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		39	47	1	0	3.33393e-15	1	3.73401e-15	39	47					T	26688343	G	T	26688343	2	4	73	1	0	0	0	0	0	0	0	1	18087	1219	43	5		5	ZNF683	1	26688343	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		26688343	222562278	1	1366										
HRNR	388697	broad.mit.edu	37	chr1	152187678	152187678	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	gtgtcgttcacccctagatgActgtcctgatctagagccgt	10	12	2	4			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr1:152187678A>G	ENST00000368801.2	-	3	6502	c.6427T>C	c.(6427-6429)Tca>Cca	p.S2143P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2143					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAGATGACTGTCCTGAT	0.587																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6427-6429)Tca>Cca		hornerin							171	199	189					1																	152187678		2195	4276	6471	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187678A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6427T>C	1.37:g.152187678A>G	ENSP00000357791:p.Ser2143Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2143P	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6502	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2143					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6427T>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.384	0.629362	0.14257	.	.	ENSG00000197915	ENST00000368801	T	0.02177	4.41	3.77	1.18	0.20946	.	.	.	.	.	T	0.01353	0.0044	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.53187	-0.8474	9	0.26408	T	0.33	.	7.4816	0.27408	0.6638:0.0:0.0:0.3362	.	2143	Q86YZ3	HORN_HUMAN	P	2143	ENSP00000357791:S2143P	ENSP00000357791:S2143P	S	-	1	0	HRNR	150454302	0.001000	0.12720	0.037000	0.18230	0.001000	0.01503	0.480000	0.22244	0.103000	0.17682	0.491000	0.48974	TCA		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		47	1241	0	0	0	1	0	47	1241					G	152187678	A	G	152187678	3	3	73	1	0	0	0	0	1	0	0	0	7359	275	10	4	2129	4	HRNR	1	152187678	Missense_Mutation	SNP	A	TCGA-RW-A67Y-01A-11D-A35D-08	125499335	152187678	97062943	2	1367										
ASAP2	8853	broad.mit.edu	37	chr2	9540191	9540191	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	ctgaccaacaaaggccaaccGagaggacctggtaattattt	9	10	0	2			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr2:9540191G>T	ENST00000281419.3	+	25	3064	c.2724G>T	c.(2722-2724)ccG>ccT	p.P908P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P863P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	908	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.P908P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGGCCAACCGAGAGGACCTG	0.517																																						ENST00000281419.3																			1	Substitution - coding silent(1)	p.P908P(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2722-2724)ccG>ccT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							130	126	127					2																	9540191		2199	4298	6497	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9540191G>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2724G>T	2.37:g.9540191G>T						ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P863P	p.P908P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			25	3064	+			908			Pro-rich.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.2724G>T	CCDS1661.1																																																																																				0.517	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		3	48	1	0	1	1	1	3	48					T	9540191	G	T	9540191	2	4	73	1	0	0	0	0	0	0	0	1	1011	1045	37	5		5	ASAP2	2	9540191	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		9540191	233659182	3	1368										
MAP4K3	8491	broad.mit.edu	37	chr2	39499635	39499635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	atacttaccagatattgataGcaagcaattgttcattacat	5	7	1	2			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr2:39499635G>A	ENST00000263881.3	-	25	2167	c.1843C>T	c.(1843-1845)Cta>Tta	p.L615L	MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000341681.5_Silent_p.L594L|MAP4K3_ENST00000536018.1_Silent_p.L168L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	615	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GATATTGATAGCAAGCAATTG	0.279																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1843-1845)Cta>Tta		mitogen-activated protein kinase kinase kinase kinase 3							72	76	75					2																	39499635		2203	4297	6500	SO:0001819	synonymous_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499635G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1843C>T	2.37:g.39499635G>A						MAP4K3_ENST00000341681.5_Silent_p.L594L|MAP4K3_ENST00000437545.1_Silent_p.L531L|MAP4K3_ENST00000536018.1_Silent_p.L168L	p.L615L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			25	2167	-		all_hematologic(82;0.211)	615			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	c.1843C>T	CCDS1803.1																																																																																				0.279	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		44	80	0	0	0	1	0	44	80					A	39499635	G	A	39499635	2	1	73	1	0	0	0	0	0	0	0	1	9261	962	34	3		3	MAP4K3	2	39499635	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08	29959444	39499635	203699738	4	1369										
UGT2B15	7367	broad.mit.edu	37	chr4	69403499	69403499	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	caggtgaggttgtgggctgcGacccgaaggtgcttggctcc	17	10	0	1			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr4:69403499G>C	ENST00000317746.2	-	6	1479	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	479					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TGTGGGCTGCGACCCGAAGGT	0.483																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1435-1437)gtC>gtG		UDP glucuronosyltransferase 2 family, polypeptide B17							118	106	110					4																	69403499		2092	3941	6033	SO:0001819	synonymous_variant	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403499G>C	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"UDP glucuronosyltransferases"	12547	protein-coding gene	gene with protein product		601903	"UDP glycosyltransferase 2 family, polypeptide B17"			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1437C>G	4.37:g.69403499G>C							p.V479V	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1479	-			479						Silent	SNP	ENST00000317746.2	37	c.1437C>G	CCDS3523.1																																																																																				0.483	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		97	9	0	0	0	1	0	97	9					C	69403499	G	C	69403499	2	2	73	1	0	0	0	0	0	0	0	1	16955	1045	37	5		5	UGT2B15	4	69403499	Silent	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		69403499	121750777	5	1370										
USO1	8615	broad.mit.edu	37	chr4	76721883	76721883	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	gagcatctcagaaaccccagCcaaactttcccagtccagaa	6	15	1	2	rs528522902		TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr4:76721883C>G	ENST00000538159.1	+	17	1822	c.1822C>G	c.(1822-1824)Cca>Gca	p.P608A	USO1_ENST00000514213.2_Missense_Mutation_p.P584A			O60763	USO1_HUMAN	USO1 vesicle transport factor	599	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCCCAGCCAAACTTTCC	0.353													C|||	0	0	0	0	5008	,	,		16658	0		0	False		,,,				2504	0					ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1822-1824)Cca>Gca		USO1 vesicle transport factor							84	80	81					4																	76721883		1824	4085	5909	SO:0001583	missense	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76721883C>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"vesicle docking protein", "transcytosis associated protein"	603344	"USO1 homolog, vesicle docking protein (yeast)", "USO1 vesicle docking protein homolog (yeast)"			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1822C>G	4.37:g.76721883C>G	ENSP00000440586:p.Pro608Ala					USO1_ENST00000514213.2_Missense_Mutation_p.P584A	p.P608A			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		17	1822	+			599			Globular head.		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37	c.1822C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150145|4.150145	0.78001|0.78001	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67097|0.67097	0.2857|0.2857	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	D;P|.	0.54772|.	0.968;0.919|.	P;P|.	0.53760|.	0.734;0.586|.	T|T	0.62511|0.62511	-0.6839|-0.6839	9|5	0.19590|.	T|.	0.45|.	.|.	19.1752|19.1752	0.93601|0.93601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	608;599|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	A|R	434;608;584;527|274	.|.	ENSP00000264904:P527A|.	P|S	+|+	1|3	0|2	USO1|USO1	76940907|76940907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.587000|7.587000	0.82613|0.82613	2.614000|2.614000	0.88457|0.88457	0.455000|0.455000	0.32223|0.32223	CCA|AGC		0.353	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		3	39	0	0	0	1	0	3	39					G	76721883	C	G	76721883	3	3	73	1	0	0	0	0	1	0	0	0	17036	739	26	5	1698	5	USO1	4	76721883	Missense_Mutation	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08	7318384	76721883	114432393	6	1371										
MCHR2	84539	broad.mit.edu	37	chr6	100369004	100369004	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	atagaaggccagtgtgggctGttccatctgtaagttcacca	11	9	2	1			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr6:100369004G>C	ENST00000281806.2	-	6	1149	c.835C>G	c.(835-837)Cag>Gag	p.Q279E	MCHR2_ENST00000369212.2_Missense_Mutation_p.Q279E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTGTGGGCTGTTCCATCTGT	0.473																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(835-837)Cag>Gag		melanin-concentrating hormone receptor 2							207	181	190					6																	100369004		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100369004G>C	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.835C>G	6.37:g.100369004G>C	ENSP00000281806:p.Gln279Glu					MCHR2_ENST00000445970.1_Missense_Mutation_p.Q279E|MCHR2_ENST00000369212.1_Missense_Mutation_p.Q279E	p.Q279E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1149	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	279					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.835C>G	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179240	0.38511	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71341	-0.56;-0.56;-0.56	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.369608	0.24307	N	0.039674	T	0.40196	0.1107	L	0.40543	1.245	0.28984	N	0.88845	B	0.21821	0.061	B	0.23150	0.044	T	0.25117	-1.0141	10	0.02654	T	1	.	16.2984	0.82786	0.0:0.0:1.0:0.0	.	279	Q969V1	MCHR2_HUMAN	E	279	ENSP00000403490:Q279E;ENSP00000281806:Q279E;ENSP00000358214:Q279E	ENSP00000281806:Q279E	Q	-	1	0	MCHR2	100475725	0.204000	0.23447	1.000000	0.80357	0.986000	0.74619	1.835000	0.39181	2.433000	0.82419	0.655000	0.94253	CAG		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		8	97	0	0	0	1	0	8	97					C	100369004	G	C	100369004	3	2	73	1	0	0	0	0	1	0	0	0	9383	1386	48	5	191	5	MCHR2	6	100369004	Missense_Mutation	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		100369004	70746063	7	1372										
TRDN	10345	broad.mit.edu	37	chr6	123868486	123868486	+	Splice_Site	DEL	T	T	-													0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	aaaggtgaaaacaactaaccTttttttctcaagggaggctc							TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr6:123868486delT	ENST00000398178.3	-	4	444	c.423delA	c.(421-423)aaa>aa	p.K141fs	TRDN_ENST00000542443.1_Splice_Site_p.K141fs|TRDN_ENST00000546248.1_Splice_Site_p.K141fs|TRDN_ENST00000334268.4_Splice_Site_p.K141fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	141					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACAACTAACCTTTTTTTCTCA	0.249																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.e4+1		triadin				4,3276		0,4,1636	13	12	12			5.7	1	6		12	16,7298		0,16,3641	no	frameshift-near-splice	TRDN	NM_006073.2		0,20,5277	A1A1,A1R,RR		0.2188,0.122,0.1888			123868486	20,10574	1702	3839	5541	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123868486delT	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.424+1A>-	6.37:g.123868486delT						TRDN_ENST00000398178.3_Splice_Site_p.K141_splice|TRDN_ENST00000542443.1_Splice_Site_p.K141_splice|TRDN_ENST00000546248.1_Splice_Site_p.K141_splice	p.K141_splice			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	4	740	-			141					A5D6W5|F5H2W7|Q6NSB8	Splice_Site	DEL	ENST00000398178.3	37	c.424_splice	CCDS55053.1																																																																																				0.249	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Frame_Shift_Del	2	4						2	4	---	---	---	---	-	123868486	T	-	123868486	8	5	73	1	0	1	0	1	0	0	1	0	16465	1623	56	0	1918	0	TRDN	6	123868486	Splice_Site	DEL	T	TCGA-RW-A67Y-01A-11D-A35D-08	23499482	123868486	47246581	8	1373										
LMTK2	22853	broad.mit.edu	37	chr7	97820972	97820972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	tgtcaccagaaaagagacccGcggctgaagatgtgcacagg	13	10	1	4			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr7:97820972G>A	ENST00000297293.5	+	11	1488	c.1195G>A	c.(1195-1197)Gcg>Acg	p.A399T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAAGAGACCCGCGGCTGAAGA	0.507																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1195-1197)Gcg>Acg		lemur tyrosine kinase 2							57	55	56					7																	97820972		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820972G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1195G>A	7.37:g.97820972G>A	ENSP00000297293:p.Ala399Thr						p.A399T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1488	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		399			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1195G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387873	0.04932	.	.	ENSG00000164715	ENST00000297293	T	0.58210	0.35	5.52	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097851	0.64402	D	0.000002	T	0.12774	0.0310	N	0.00308	-1.67	0.31677	N	0.643641	B	0.18610	0.029	B	0.14578	0.011	T	0.40701	-0.9549	10	0.02654	T	1	.	4.6036	0.12366	0.275:0.0:0.725:0.0	.	399	Q8IWU2	LMTK2_HUMAN	T	399	ENSP00000297293:A399T	ENSP00000297293:A399T	A	+	1	0	LMTK2	97658908	1.000000	0.71417	0.025000	0.17156	0.156000	0.22039	6.086000	0.71352	2.767000	0.95098	0.655000	0.94253	GCG		0.507	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		22	24	0	0	0	1	0	22	24					A	97820972	G	A	97820972	3	1	73	1	0	0	0	0	1	0	0	0	8859	1087	38	1	1237	1	LMTK2	7	97820972	Missense_Mutation	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		97820972	61317691	9	1374										
CHRNA6	8973	broad.mit.edu	37	chr8	42608436	42608436	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	tccaccaccatggccacgtaTttccagtcatcttctacctg	5	16	3	0			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr8:42608436T>A	ENST00000276410.2	-	6	1726	c.1371A>T	c.(1369-1371)aaA>aaT	p.K457N	CHRNA6_ENST00000534622.1_Missense_Mutation_p.K442N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	457					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TGGCCACGTATTTCCAGTCAT	0.378																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(1369-1371)aaA>aaT		cholinergic receptor, nicotinic, alpha 6 (neuronal)							166	179	175					8																	42608436		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42608436T>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1371A>T	8.37:g.42608436T>A	ENSP00000276410:p.Lys457Asn					CHRNA6_ENST00000534622.1_Missense_Mutation_p.K442N	p.K457N	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		6	1726	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	457					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.1371A>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	t	19.42	3.824801	0.71143	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.72942	-0.7;-0.7	6.02	-0.44	0.12261	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.045358	0.85682	D	0.000000	D	0.83294	0.5223	M	0.86420	2.815	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83973	0.0328	10	0.87932	D	0	.	12.1194	0.53883	0.0:0.4603:0.0:0.5397	.	442;457	B4DQH1;Q15825	.;ACHA6_HUMAN	N	457;442	ENSP00000276410:K457N;ENSP00000433871:K442N	ENSP00000276410:K457N	K	-	3	2	CHRNA6	42727593	0.107000	0.21998	0.987000	0.45799	0.957000	0.61999	-0.568000	0.05909	-0.067000	0.12976	-0.417000	0.06048	AAA		0.378	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			4	219	0	0	0	1	0	4	219					A	42608436	T	A	42608436	3	1	73	1	0	0	0	0	1	0	0	0	3387	1490	52	5	117	5	CHRNA6	8	42608436	Missense_Mutation	SNP	T	TCGA-RW-A67Y-01A-11D-A35D-08		42608436	103755586	10	1375										
GPR83	10888	broad.mit.edu	37	chr11	94113423	94113423	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	ggagccctctggccatcattCttctctgtccaggccaccct	8	17	4	0			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr11:94113423C>T	ENST00000243673.2	-	4	1335	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	GPR83_ENST00000539203.2_Silent_p.K346K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	388					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCCATCATTCTTCTCTGTCC	0.562																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(1162-1164)aaG>aaA		G protein-coupled receptor 83							83	81	82					11																	94113423		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113423C>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1164G>A	11.37:g.94113423C>T						GPR83_ENST00000539203.2_Silent_p.K346K	p.K388K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1335	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	388					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.1164G>A	CCDS8297.1																																																																																				0.562	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		15	48	0	0	0	1	0	15	48					T	94113423	C	T	94113423	2	4	73	1	0	0	0	0	0	0	0	1	6713	912	32	3		3	GPR83	11	94113423	Silent	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		94113423	40893093	11	1376										
ATF7IP	55729	broad.mit.edu	37	chr12	14599931	14599931	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	ttttttttcaggccaagataGccaggttaaccaaacgcttt	7	9	1	1			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr12:14599931G>C	ENST00000540793.1	+	5	2094	c.1939G>C	c.(1939-1941)Gcc>Ccc	p.A647P	ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.A655P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	647	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCCAAGATAGCCAGGTTAAC	0.269																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(1963-1965)Gcc>Ccc		activating transcription factor 7 interacting protein							45	52	50					12																	14599931		2203	4296	6499	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14599931G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1939G>C	12.37:g.14599931G>C	ENSP00000444589:p.Ala647Pro					ATF7IP_ENST00000543189.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000536444.1_Missense_Mutation_p.A646P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A647P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.A647P	p.A655P			Q6VMQ6	MCAF1_HUMAN			6	2283	+			647			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1963G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239066	0.79800	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.24723	1.96;1.84;1.96;1.96;1.96	5.83	5.83	0.93111	.	0.087940	0.49916	D	0.000140	T	0.47322	0.1439	L	0.59436	1.845	0.42929	D	0.994317	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.79784	0.929;0.993;0.953;0.953;0.993;0.993	T	0.40327	-0.9569	10	0.72032	D	0.01	-12.1896	14.3101	0.66410	0.0728:0.0:0.9271:0.0	.	655;646;646;647;646;258	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	P	647;86;646;646;655;647	ENSP00000261168:A647P;ENSP00000443179:A646P;ENSP00000445955:A646P;ENSP00000440440:A655P;ENSP00000444589:A647P	ENSP00000261168:A647P	A	+	1	0	ATF7IP	14491198	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.749000	0.62155	2.757000	0.94681	0.563000	0.77884	GCC		0.269	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		6	64	0	0	0	1	0	6	64					C	14599931	G	C	14599931	3	2	73	1	0	0	0	0	1	0	0	0	1087	971	34	5	1957	5	ATF7IP	12	14599931	Missense_Mutation	SNP	G	TCGA-RW-A67Y-01A-11D-A35D-08		14599931	119251964	12	1377										
DGKH	160851	broad.mit.edu	37	chr13	42780271	42780271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	ctaacttttggggtggaactAaagaggatgatgtaagtaat	12	3	0	2			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr13:42780271A>G	ENST00000337343.4	+	21	2611	c.2590A>G	c.(2590-2592)Aaa>Gaa	p.K864E	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E|DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000261491.5_Missense_Mutation_p.K864E|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E|DGKH_ENST00000379274.2_Missense_Mutation_p.K728E	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	864					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGGTGGAACTAAAGAGGATGA	0.398																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2182-2184)Aaa>Gaa		diacylglycerol kinase, eta							108	101	103					13																	42780271		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42780271A>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2590A>G	13.37:g.42780271A>G	ENSP00000337572:p.Lys864Glu					DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.K864E|DGKH_ENST00000540693.1_Missense_Mutation_p.K864E|DGKH_ENST00000538674.1_Missense_Mutation_p.K619E|DGKH_ENST00000337343.4_Missense_Mutation_p.K864E|DGKH_ENST00000536612.1_Missense_Mutation_p.K728E	p.K728E			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	21	2611	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	864					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.2182A>G	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681011	0.88542	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.43	5.43	0.79202	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	M	0.68593	2.085	0.80722	D	1	P;D;P;D	0.59357	0.918;0.985;0.911;0.967	P;P;P;P	0.62014	0.835;0.891;0.821;0.897	T	0.55095	-0.8194	10	0.72032	D	0.01	.	15.7645	0.78114	1.0:0.0:0.0:0.0	.	619;728;864;864	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	E	864;864;864;728;728;619	ENSP00000440823:K864E;ENSP00000337572:K864E;ENSP00000261491:K864E;ENSP00000368576:K728E;ENSP00000445114:K728E;ENSP00000441308:K619E	ENSP00000261491:K864E	K	+	1	0	DGKH	41678271	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.196000	0.70406	0.482000	0.46254	AAA		0.398	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		25	22	0	0	0	1	0	25	22					G	42780271	A	G	42780271	3	3	73	1	0	0	0	0	1	0	0	0	4470	363	13	4	2672	4	DGKH	13	42780271	Missense_Mutation	SNP	A	TCGA-RW-A67Y-01A-11D-A35D-08		42780271	72389607	13	1378										
NF1	4763	broad.mit.edu	37	chr17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	ttctatagatctgcctggctCagaattcaccttctacattt	5	11	5	2			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2)	p.0?(8)|p.?(6)|p.Q400*(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1198-1200)Cag>Tag		neurofibromin 1							78	86	83					17																	29528441		2203	4295	6498	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528441C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1198C>T	17.37:g.29528441C>T	ENSP00000351015:p.Gln400*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1581	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	400					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1198C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647345	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	0.119548	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;400;66	.	ENSP00000348498:Q400X	Q	+	1	0	NF1	26552567	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.284000	0.58983	2.412000	0.81896	0.491000	0.48974	CAG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		37	11	0	0	0	1	0	37	11					T	29528441	C	T	29528441	4	4	73	1	0	0	0	0	0	1	0	0	10356	827	29	3	1240	3	NF1	17	29528441	Nonsense_Mutation	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		29528441	51666769	14	1379										
SNRPD2	6633	broad.mit.edu	37	chr19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-													0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	gagcacttgggtattgttctTgactgactgtgtgagcacag							TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)gtcaagfs	p.VK36fs	SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(106-111)agfs		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa																																				SO:0001589	frameshift_variant	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46191718_46191721delTGAC		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.106_109delGTCA	19.37:g.46191722_46191725delTGAC	ENSP00000342374:p.Val36fs					SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs	p.VK36fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	2	550_553	-		Ovarian(192;0.051)|all_neural(266;0.112)	36					A8K797|J3KPM5|P43330	Frame_Shift_Del	DEL	ENST00000342669.3	37	c.106_109delGTCA	CCDS33053.1																																																																																				0.544	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		25	55						25	55	---	---	---	---	-	46191721	TGAC	-	46191718	7	5	73	1	0	1	0	1	0	0	0	0	14865	1821	63	0	255	0	SNRPD2	19	46191718	Frame_Shift_Del	DEL	TGAC	TCGA-RW-A67Y-01A-11D-A35D-08		46191718	12937265	15	1380										
TRMT6	51605	broad.mit.edu	37	chr20	5924293	5924293	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	ccagcacggatatttcccaaCgtcaacatctgggctagtgt	9	12	2	0	rs138159047		TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chr20:5924293C>A	ENST00000203001.2	-	6	709	c.579G>T	c.(577-579)acG>acT	p.T193T	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	193					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TATTTCCCAACGTCAACATCT	0.378																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(577-579)acG>acT		tRNA methyltransferase 6 homolog (S. cerevisiae)							173	159	164					20																	5924293		2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5924293C>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.579G>T	20.37:g.5924293C>A						TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Silent_p.T23T	p.T193T	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			6	709	-			193					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.579G>T	CCDS13093.1																																																																																				0.378	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			4	177	1	0	0.014758	1	0.0153046	4	177					A	5924293	C	A	5924293	2	1	73	1	0	0	0	0	0	0	0	1	16565	523	19	5		5	TRMT6	20	5924293	Silent	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		5924293	57101227	16	1381										
FAM155B	27112	broad.mit.edu	37	chrX	68749682	68749682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.5024154589372	0	2.70434782608696	0.333333333333333	1	0	cctagcaggatccggctctgCgtccttgttctcatgctcct	9	15	2	0			TCGA-RW-A67Y-01A-11D-A35D-08	TCGA-RW-A67Y-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ddc9a8-ba40-4b92-8a62-6c0531ec068e	3daca529-5a71-4da4-81b1-4f62a7d97670	g.chrX:68749682C>T	ENST00000252338.4	+	3	1344	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	435						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCGGCTCTGCGTCCTTGTTC	0.657																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(1300-1302)tgC>tgT		family with sequence similarity 155, member B							107	81	90					X																	68749682		2203	4300	6503	SO:0001819	synonymous_variant	27112					integral to membrane		g.chrX:68749682C>T	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1302C>T	X.37:g.68749682C>T							p.C434C	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			3	1344	+			435					B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	c.1302C>T	CCDS35317.1																																																																																				0.657	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		3	48	0	0	0	1	0	3	48					T	68749682	C	T	68749682	2	4	73	1	0	0	0	0	0	0	0	1	5466	776	27	1		1	FAM155B	23	68749682	Silent	SNP	C	TCGA-RW-A67Y-01A-11D-A35D-08		68749682	86520878	17	1382										
C1orf177	163747	broad.mit.edu	37	chr1	55279581	55279581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tggggttttttctaaacttcCccgaaacccgaaaaccccta	6	13	1	0			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:55279581C>T	ENST00000371273.3	+	7	872	c.857C>T	c.(856-858)cCc>cTc	p.P286L	C1orf177_ENST00000358193.3_Missense_Mutation_p.P286L	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	286										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCTAAACTTCCCCGAAACCCG	0.473																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(856-858)cCc>cTc		chromosome 1 open reading frame 177							88	95	93					1																	55279581		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55279581C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.857C>T	1.37:g.55279581C>T	ENSP00000360320:p.Pro286Leu					C1orf177_ENST00000371273.3_Missense_Mutation_p.P286L	p.P286L	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			7	911	+			286					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.857C>T	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225282	0.22457	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.23552	1.9;1.9	4.98	4.98	0.66077	.	0.491436	0.20299	N	0.095066	T	0.34454	0.0898	L	0.50333	1.59	0.24281	N	0.995202	P;P	0.51351	0.944;0.944	P;P	0.50617	0.646;0.646	T	0.14476	-1.0471	10	0.54805	T	0.06	.	13.6147	0.62101	0.0:1.0:0.0:0.0	.	286;286	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	L	286	ENSP00000350924:P286L;ENSP00000360320:P286L	ENSP00000350924:P286L	P	+	2	0	C1orf177	55052169	0.344000	0.24827	0.047000	0.18901	0.105000	0.19272	2.504000	0.45416	2.588000	0.87417	0.561000	0.74099	CCC		0.473	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		35	45	0	0	0	1	0	35	45					T	55279581	C	T	55279581	3	4	74	1	0	0	0	0	1	0	0	0	2017	623	22	3	883	3	C1orf177	1	55279581	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		55279581	193971040	1	1383										
COL24A1	255631	broad.mit.edu	37	chr1	86210382	86210382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ttgttcacagttaagtaaatCtttgcagattcgtgctgggt	10	6	2	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:86210382C>T	ENST00000370571.2	-	57	5005	c.4639G>A	c.(4639-4641)Gat>Aat	p.D1547N	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1547	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTAAGTAAATCTTTGCAGATT	0.368																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4639-4641)Gat>Aat		collagen, type XXIV, alpha 1							166	154	157					1																	86210382		1863	4098	5961	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210382C>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4639G>A	1.37:g.86210382C>T	ENSP00000359603:p.Asp1547Asn					COL24A1_ENST00000436319.1_Missense_Mutation_p.D1526N	p.D1547N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	5005	-			1547			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4639G>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209081	0.79240	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.79454	-1.27;-1.27	5.29	5.29	0.74685	Fibrillar collagen, C-terminal (3);	0.000000	0.32488	N	0.006022	D	0.90717	0.7087	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92466	0.5981	10	0.72032	D	0.01	.	19.2988	0.94134	0.0:1.0:0.0:0.0	.	1547;1526	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	N	1547;1526	ENSP00000359603:D1547N;ENSP00000392531:D1526N	ENSP00000359603:D1547N	D	-	1	0	COL24A1	85982970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.635000	0.89317	0.563000	0.77884	GAT		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		58	39	0	0	0	1	0	58	39					T	86210382	C	T	86210382	3	4	74	1	0	0	0	0	1	0	0	0	3683	913	32	3	521	3	COL24A1	1	86210382	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	30930801	86210382	163040239	2	1384										
CD1B	910	broad.mit.edu	37	chr1	158300810	158300810	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	cccaggtactattggtaaagGacgaggtctggataacatga	12	7	1	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:158300810G>C	ENST00000368168.3	-	2	211	c.104C>G	c.(103-105)tCc>tGc	p.S35C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	35					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTGGTAAAGGACGAGGTCTG	0.493																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(103-105)tCc>tGc		CD1b molecule							237	227	231					1																	158300810		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300810G>C	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.104C>G	1.37:g.158300810G>C	ENSP00000357150:p.Ser35Cys						p.S35C	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			2	211	-	all_hematologic(112;0.0378)		35					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.104C>G	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305750	0.23736	.	.	ENSG00000158485	ENST00000368168	T	0.08282	3.11	4.15	2.24	0.28232	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.577232	0.14629	N	0.307928	T	0.13157	0.0319	M	0.84326	2.69	0.09310	N	1	D;P	0.89917	1.0;0.921	D;P	0.71870	0.975;0.448	T	0.07290	-1.0780	10	0.66056	D	0.02	-8.5429	4.8925	0.13733	0.1104:0.0:0.6785:0.211	.	35;35	B4E0D2;P29016	.;CD1B_HUMAN	C	35	ENSP00000357150:S35C	ENSP00000357150:S35C	S	-	2	0	CD1B	156567434	0.024000	0.19004	0.015000	0.15790	0.050000	0.14768	2.128000	0.42045	0.501000	0.28013	0.655000	0.94253	TCC		0.493	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		15	355	0	0	0	1	0	15	355					C	158300810	G	C	158300810	3	2	74	1	0	0	0	0	1	0	0	0	2975	1174	41	5	917	5	CD1B	1	158300810	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	72090428	158300810	90949811	3	1385										
ATP1B1	481	broad.mit.edu	37	chr1	169100776	169100776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	agggacgttttgatgtaaaaAttgaagttaagagctgatca	11	3	1	4			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:169100776A>G	ENST00000367816.1	+	7	1424	c.895A>G	c.(895-897)Att>Gtt	p.I299V	ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V|ATP1B1_ENST00000367815.4_Missense_Mutation_p.I299V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	299	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGATGTAAAAATTGAAGTTAA	0.368																																						ENST00000367816.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14						c.(895-897)Att>Gtt		ATPase, Na+/K+ transporting, beta 1 polypeptide							71	69	69					1																	169100776		2203	4300	6503	SO:0001583	missense	481				ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:169100776A>G	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.895A>G	1.37:g.169100776A>G	ENSP00000356790:p.Ile299Val					ATP1B1_ENST00000499679.3_Missense_Mutation_p.I243V|ATP1B1_ENST00000367815.3_Missense_Mutation_p.I299V|ATP1B1_ENST00000367813.3_Missense_Mutation_p.I291V	p.I299V			P05026	AT1B1_HUMAN			7	1424	+	all_hematologic(923;0.208)		299					Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	37	c.895A>G	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	A	9.852	1.194005	0.22037	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.29655	1.57;1.57;1.59;1.56	5.46	4.29	0.51040	.	0.194361	0.53938	D	0.000041	T	0.09024	0.0223	N	0.25890	0.77	0.22081	N	0.999375	B	0.21688	0.059	B	0.21546	0.035	T	0.11155	-1.0599	9	0.32370	T	0.25	-14.7659	8.2346	0.31618	0.5875:0.0:0.0:0.4125	.	299	P05026	AT1B1_HUMAN	V	299;299;243;291	ENSP00000356790:I299V;ENSP00000356789:I299V;ENSP00000423450:I243V;ENSP00000356787:I291V	ENSP00000356787:I291V	I	+	1	0	ATP1B1	167367400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.138000	0.31491	2.076000	0.62316	0.528000	0.53228	ATT		0.368	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			5	101	0	0	0	1	0	5	101					G	169100776	A	G	169100776	3	3	74	1	0	0	0	0	1	0	0	0	1132	101	4	4	917	4	ATP1B1	1	169100776	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	10799966	169100776	80149845	4	1386										
LYST	1130	broad.mit.edu	37	chr1	235940409	235940409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	cagttccaccaatttcgtgcAgaatgccttgaatagtttta	7	9	0	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:235940409A>G	ENST00000389794.3	-	17	5588	c.5414T>C	c.(5413-5415)cTg>cCg	p.L1805P	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L1805P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1805					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTCGTGCAGAATGCCTTG	0.353																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5413-5415)cTg>cCg		lysosomal trafficking regulator							108	113	112					1																	235940409		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235940409A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5414T>C	1.37:g.235940409A>G	ENSP00000374444:p.Leu1805Pro					LYST_ENST00000389793.2_Missense_Mutation_p.L1805P|LYST_ENST00000536965.1_3'UTR	p.L1805P			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		17	5588	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1805					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5414T>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802638	0.70682	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65732	-0.17;-0.17	5.52	4.37	0.52481	.	0.215062	0.41500	D	0.000880	T	0.73908	0.3647	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	T	0.76075	-0.3092	10	0.87932	D	0	.	12.0206	0.53342	0.8704:0.0:0.0:0.1296	.	1805	Q99698	LYST_HUMAN	P	1805	ENSP00000374444:L1805P;ENSP00000374443:L1805P	ENSP00000374443:L1805P	L	-	2	0	LYST	234007032	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	8.803000	0.91915	0.990000	0.38787	0.528000	0.53228	CTG		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			8	116	0	0	0	1	0	8	116					G	235940409	A	G	235940409	3	3	74	1	0	0	0	0	1	0	0	0	9128	188	7	4	6139	4	LYST	1	235940409	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	66839633	235940409	13310212	5	1387										
OR2W5	441932	broad.mit.edu	37	chr1	247654533	247654533	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tgctgttatcttgatcttctGcatcctgaccctggtgggca	10	11	3	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr1:247654533G>T	ENST00000522351.1	+	0	164							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGATCTTCTGCATCCTGACC	0.498																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															156	139	145					1																	247654533		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654533G>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654533G>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	164	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.498	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		19	53	1	0	1.00905e-13	1	1.10515e-13	19	53					T	247654533	G	T	247654533	1	4	74	0	1	0	0	0	0	0	0	0	11034	1319	46	5		5	OR2W5	1	247654533	RNA	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	11714124	247654533	1596088	6	1388										
PGM2	55276	broad.mit.edu	37	chr4	37836301	37836301	+	Frame_Shift_Del	DEL	G	G	-													0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	gcagaaaggcatcgtgatcaGttttgacgcccgagctcatc							TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr4:37836301delG	ENST00000381967.4	+	3	411	c.311delG	c.(310-312)agtfs	p.S104fs	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	104					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATCGTGATCAGTTTTGACGCC	0.338																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(310-312)atfs		phosphoglucomutase 2							91	102	99					4																	37836301		2203	4300	6503	SO:0001589	frameshift_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37836301delG	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.311delG	4.37:g.37836301delG	ENSP00000371393:p.Ser104fs					PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	p.S104fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			3	411	+			104					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Frame_Shift_Del	DEL	ENST00000381967.4	37	c.311delG	CCDS3443.1																																																																																				0.338	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		12	143						12	143	---	---	---	---	-	37836301	G	-	37836301	7	5	74	1	0	1	0	1	0	0	0	0	11798	1029	36	0	321	0	PGM2	4	37836301	Frame_Shift_Del	DEL	G	TCGA-RW-A680-01A-11D-A35D-08		37836301	153317975	7	1389										
HCN1	348980	broad.mit.edu	37	chr5	45262355	45262355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ggagagtggcctgacttcccGggtcaggttggtgttgtgaa	17	7	1	3			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr5:45262355G>A	ENST00000303230.4	-	8	2398	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	781					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R781R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGACTTCCCGGGTCAGGTTG	0.637																																						ENST00000303230.4																			1	Substitution - coding silent(1)	p.R781R(1)	lung(1)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2341-2343)Cgg>Tgg		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							73	69	71					5																	45262355		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262355G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2341C>T	5.37:g.45262355G>A	ENSP00000307342:p.Arg781Trp						p.R781W	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2398	-			781						Missense_Mutation	SNP	ENST00000303230.4	37	c.2341C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385393	0.61956	.	.	ENSG00000164588	ENST00000303230	T	0.76709	-1.04	5.02	1.49	0.22878	.	0.109401	0.38164	N	0.001782	T	0.79981	0.4540	L	0.27053	0.805	0.36489	D	0.868304	D	0.89917	1.0	D	0.79784	0.993	D	0.84234	0.0468	10	0.87932	D	0	.	14.7417	0.69461	0.0:0.0:0.508:0.492	.	781	O60741	HCN1_HUMAN	W	781	ENSP00000307342:R781W	ENSP00000307342:R781W	R	-	1	2	HCN1	45298112	0.292000	0.24362	0.658000	0.29665	0.980000	0.70556	2.305000	0.43664	0.552000	0.29026	0.655000	0.94253	CGG		0.637	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		13	43	0	0	0	1	0	13	43					A	45262355	G	A	45262355	3	1	74	1	0	0	0	0	1	0	0	0	6996	1115	39	2	335	2	HCN1	5	45262355	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		45262355	135652905	8	1390										
OR2J3	442186	broad.mit.edu	37	chr6	29080275	29080275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tgtcaatgagctgaccctcaTgatcacaagctccatatttg	7	11	3	3			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:29080275T>C	ENST00000377169.1	+	1	608	c.608T>C	c.(607-609)aTg>aCg	p.M203T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGACCCTCATGATCACAAGC	0.473																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(607-609)aTg>aCg		olfactory receptor, family 2, subfamily J, member 3							101	112	108					6																	29080275		1332	2601	3933	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080275T>C		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.608T>C	6.37:g.29080275T>C	ENSP00000366374:p.Met203Thr						p.M203T	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	608	+			203					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.608T>C	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	0.911	-0.719116	0.03182	.	.	ENSG00000204701	ENST00000377169	T	0.00044	8.83	2.78	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.03281	-0.365	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.19224	-1.0312	9	0.72032	D	0.01	.	7.5106	0.27571	0.1931:0.0:0.0:0.8069	.	203	O76001	OR2J3_HUMAN	T	203	ENSP00000366374:M203T	ENSP00000366374:M203T	M	+	2	0	OR2J3	29188254	0.134000	0.22483	0.020000	0.16555	0.045000	0.14185	2.310000	0.43708	0.235000	0.21160	0.358000	0.22013	ATG		0.473	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			10	78	0	0	0	1	0	10	78					C	29080275	T	C	29080275	3	2	74	1	0	0	0	0	1	0	0	0	11004	1464	51	4	610	4	OR2J3	6	29080275	Missense_Mutation	SNP	T	TCGA-RW-A680-01A-11D-A35D-08		29080275	142034792	9	1391										
ABCC10	89845	broad.mit.edu	37	chr6	43415485	43415485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	acgtggtgttggcgtaccggCcagggctgccgaatgccctg	16	12	0	0			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:43415485C>T	ENST00000372530.4	+	18	3984	c.3769C>T	c.(3769-3771)Cca>Tca	p.P1257S	ABCC10_ENST00000244533.3_Missense_Mutation_p.P1229S	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1257	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCGTACCGGCCAGGGCTGCC	0.662																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3685-3687)Cca>Tca		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							142	146	145					6																	43415485		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415485C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3769C>T	6.37:g.43415485C>T	ENSP00000361608:p.Pro1257Ser					ABCC10_ENST00000372530.4_Missense_Mutation_p.P1257S	p.P1229S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4044	+	all_lung(25;0.00536)		1257					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3685C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230742	0.58777	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.89939	-2.59;-2.59	5.61	5.61	0.85477	ABC transporter-like (1);	0.362802	0.29814	N	0.011132	T	0.77785	0.4182	N	0.17594	0.5	0.44424	D	0.997345	P;B	0.36789	0.57;0.158	B;B	0.39258	0.295;0.066	T	0.82335	-0.0508	10	0.59425	D	0.04	-18.9539	16.1618	0.81727	0.0:0.8577:0.1423:0.0	.	1229;1257	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	1257;1229;8	ENSP00000361608:P1257S;ENSP00000244533:P1229S	ENSP00000244533:P1229S	P	+	1	0	ABCC10	43523463	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.228000	0.42981	2.641000	0.89580	0.591000	0.81541	CCA		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		110	127	0	0	0	1	0	110	127					T	43415485	C	T	43415485	3	4	74	1	0	0	0	0	1	0	0	0	50	739	26	3	3747	3	ABCC10	6	43415485	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	14335210	43415485	127699582	10	1392										
AKAP12	9590	broad.mit.edu	37	chr6	151672064	151672064	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	gactctgatgtcccggccgtGgtccctctgtctgagtatga	12	12	3	3			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr6:151672064G>A	ENST00000253332.1	+	3	2727	c.2538G>A	c.(2536-2538)gtG>gtA	p.V846V	AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000402676.2_Silent_p.V846V|AKAP12_ENST00000354675.6_Silent_p.V748V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	846					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCCCGGCCGTGGTCCCTCTGT	0.557																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2536-2538)gtG>gtA		A kinase (PRKA) anchor protein 12							92	103	99					6																	151672064		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672064G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2538G>A	6.37:g.151672064G>A						AKAP12_ENST00000359755.5_Silent_p.V741V|AKAP12_ENST00000354675.6_Silent_p.V748V|AKAP12_ENST00000253332.1_Silent_p.V846V	p.V846V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2778	+		Ovarian(120;0.125)	846					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2538G>A	CCDS5229.1																																																																																				0.557	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			60	90	0	0	0	1	0	60	90					A	151672064	G	A	151672064	2	1	74	1	0	0	0	0	0	0	0	1	448	1335	47	3		3	AKAP12	6	151672064	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	108256579	151672064	19443003	11	1393										
POLD2	5425	broad.mit.edu	37	chr7	44154459	44154459	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	aagctgatgggctggcaggcCaggctgcgcaggttcacaag	16	10	1	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:44154459C>G	ENST00000406581.2	-	12	1984	c.1335G>C	c.(1333-1335)ctG>ctC	p.L445L	POLD2_ENST00000223361.3_Silent_p.L431L|POLD2_ENST00000452185.1_Silent_p.L445L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	445					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCTGGCAGGCCAGGCTGCGCA	0.612																																						ENST00000406581.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1333-1335)ctG>ctC		polymerase (DNA directed), delta 2, accessory subunit							30	31	30					7																	44154459		2203	4300	6503	SO:0001819	synonymous_variant	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154459C>G		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1335G>C	7.37:g.44154459C>G						POLD2_ENST00000452185.1_Silent_p.L445L|POLD2_ENST00000223361.3_Silent_p.L431L	p.L445L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN			12	1984	-			445					A4D2J4|B2R5S4	Silent	SNP	ENST00000406581.2	37	c.1335G>C	CCDS5477.1																																																																																				0.612	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		10	18	0	0	0	1	0	10	18					G	44154459	C	G	44154459	2	3	74	1	0	0	0	0	0	0	0	1	12191	581	21	5		5	POLD2	7	44154459	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		44154459	114984204	12	1394										
ZAN	7455	broad.mit.edu	37	chr7	100391825	100391825	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ctgctgtgtgagcccttcagCtgcagagcgggggaggtctg	17	10	2	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:100391825C>T	ENST00000348028.3	+	0	8016				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_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)				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)			AGCCCTTCAGCTGCAGAGCGG	0.637																																						ENST00000542585.1																			0				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)							76	84	81					7																	100391825		2042	4201	6243			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100391825C>T	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.100391825C>T						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	8280	+	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																																																																																						0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		33	36	0	0	0	1	0	33	36					T	100391825	C	T	100391825	1	4	74	0	1	0	0	0	0	0	0	0	17510	796	28	3		3	ZAN	7	100391825	RNA	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	56237366	100391825	58746838	13	1395										
CLCN1	1180	broad.mit.edu	37	chr7	143018823	143018823	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tttaggctctggaatccccgAaatgaagacaatacttcgtg	9	9	1	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr7:143018823A>T	ENST00000343257.2	+	5	665	c.578A>T	c.(577-579)gAa>gTa	p.E193V	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	193					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGAATCCCCGAAATGAAGACA	0.498																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(577-579)gAa>gTa		chloride channel, voltage-sensitive 1							94	82	86					7																	143018823		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143018823A>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.578A>T	7.37:g.143018823A>T	ENSP00000339867:p.Glu193Val					CLCN1_ENST00000495612.1_3'UTR	p.E193V	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			5	665	+	Melanoma(164;0.205)		193					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.578A>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.478175	0.84747	.	.	ENSG00000188037	ENST00000343257	D	0.94537	-3.45	5.02	5.02	0.67125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98574	1.0647	10	0.87932	D	0	.	14.808	0.69971	1.0:0.0:0.0:0.0	.	193	P35523	CLCN1_HUMAN	V	193	ENSP00000339867:E193V	ENSP00000339867:E193V	E	+	2	0	CLCN1	142728945	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	9.339000	0.96797	1.911000	0.55334	0.454000	0.30748	GAA		0.498	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		50	87	0	0	0	1	0	50	87					T	143018823	A	T	143018823	3	4	74	1	0	0	0	0	1	0	0	0	3462	246	9	5	596	5	CLCN1	7	143018823	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	42626998	143018823	16119840	14	1396										
CLVS1	157807	broad.mit.edu	37	chr8	62370926	62370926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	taatacaccctgaatttttgCcctctgaatttggaggaact	7	9	1	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:62370926C>T	ENST00000519846.1	+	6	1274	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	268	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.P268S(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAATTTTTGCCCTCTGAATT	0.413																																						ENST00000519846.1																			1	Substitution - Missense(1)	p.P268S(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(802-804)Ccc>Tcc		clavesin 1							128	120	123					8																	62370926		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62370926C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.802C>T	8.37:g.62370926C>T	ENSP00000428402:p.Pro268Ser					CLVS1_ENST00000325897.4_Missense_Mutation_p.P268S|CLVS1_ENST00000518592.1_5'UTR	p.P268S			Q8IUQ0	CLVS1_HUMAN			6	1274	+			268			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.802C>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182528	0.94885	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.90844	-2.74;-2.74	5.43	5.43	0.79202	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.112886	0.64402	D	0.000008	D	0.96259	0.8780	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96452	0.9335	10	0.87932	D	0	-8.6114	19.4372	0.94801	0.0:1.0:0.0:0.0	.	268	Q8IUQ0	CLVS1_HUMAN	S	268	ENSP00000428402:P268S;ENSP00000325506:P268S	ENSP00000325506:P268S	P	+	1	0	CLVS1	62533480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.236000	0.78154	2.827000	0.97445	0.650000	0.86243	CCC		0.413	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		4	141	0	0	0	1	0	4	141					T	62370926	C	T	62370926	3	4	74	1	0	0	0	0	1	0	0	0	3571	739	26	3	816	3	CLVS1	8	62370926	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		62370926	83993096	15	1397										
PREX2	80243	broad.mit.edu	37	chr8	68965465	68965465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tttgaagctattttgaaagaAagagaacggcggaaaggtgg	14	3	0	4			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:68965465A>C	ENST00000288368.4	+	9	1354	c.1077A>C	c.(1075-1077)gaA>gaC	p.E359D	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	359	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTGAAAGAAAGAGAACGGC	0.378																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1075-1077)gaA>gaC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							115	111	112					8																	68965465		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965465A>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1077A>C	8.37:g.68965465A>C	ENSP00000288368:p.Glu359Asp					PREX2_ENST00000529398.1_3'UTR	p.E359D	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1354	+			359			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1077A>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212010	0.79240	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88586	-2.4	5.74	3.41	0.39046	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.055062	0.64402	D	0.000001	D	0.93504	0.7927	M	0.85197	2.74	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.997	D	0.92611	0.6099	10	0.87932	D	0	.	7.0984	0.25323	0.695:0.0:0.305:0.0	.	359;359;359	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	D	359	ENSP00000288368:E359D	ENSP00000288368:E359D	E	+	3	2	PREX2	69128019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.288000	0.43514	1.009000	0.39289	0.533000	0.62120	GAA		0.378	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		17	116	0	0	0	1	0	17	116					C	68965465	A	C	68965465	3	2	74	1	0	0	0	0	1	0	0	0	12477	11	1	5	1111	5	PREX2	8	68965465	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	6594539	68965465	77398557	16	1398										
RBM12B	389677	broad.mit.edu	37	chr8	94747087	94747087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	aaaagcaccaactgagtataTtggtgggtcttttgagtcaa	10	6	2	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr8:94747087T>C	ENST00000399300.2	-	3	1765	c.1552A>G	c.(1552-1554)Ata>Gta	p.I518V	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	518							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTGAGTATATTGGTGGGTCT	0.443																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1552-1554)Ata>Gta		RNA binding motif protein 12B							109	104	105					8																	94747087		1851	4100	5951	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747087T>C		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1552A>G	8.37:g.94747087T>C	ENSP00000382239:p.Ile518Val					RBM12B_ENST00000517700.1_Missense_Mutation_p.I518V|RBM12B_ENST00000520961.1_Intron	p.I518V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1765	-	Breast(36;4.14e-07)		518					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1552A>G	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.661918	0.00006	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.05925	3.37;3.37	5.64	-7.75	0.01236	.	1.977070	0.02096	N	0.053534	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40701	-0.9549	10	0.06365	T	0.9	-0.0157	1.6073	0.02687	0.1634:0.284:0.1624:0.3902	.	518	Q8IXT5	RB12B_HUMAN	V	518	ENSP00000382239:I518V;ENSP00000427729:I518V	ENSP00000382239:I518V	I	-	1	0	RBM12B	94816263	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.636000	0.05465	-1.736000	0.01352	-2.299000	0.00261	ATA		0.443	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		38	120	0	0	0	1	0	38	120					C	94747087	T	C	94747087	3	2	74	1	0	0	0	0	1	0	0	0	13114	1493	52	4	1457	4	RBM12B	8	94747087	Missense_Mutation	SNP	T	TCGA-RW-A680-01A-11D-A35D-08	25781622	94747087	51616935	17	1399										
KIAA0649	9858	broad.mit.edu	37	chr9	138376461	138376461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	aggtgcttctcggaggctgaCgagggcgtggagagcgcgtc	19	9	1	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr9:138376461C>T	ENST00000356818.2	+	4	654	c.105C>T	c.(103-105)gaC>gaT	p.D35D	PPP1R26_ENST00000401470.3_Silent_p.D35D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.D35D|PPP1R26_ENST00000605286.1_Silent_p.D35D|PPP1R26_ENST00000604351.1_Silent_p.D35D	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	35					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CGGAGGCTGACGAGGGCGTGG	0.657																																						ENST00000356818.2																			0											c.(103-105)gaC>gaT		protein phosphatase 1, regulatory subunit 26							43	53	50					9																	138376461		2203	4299	6502	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138376461C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.105C>T	9.37:g.138376461C>T						PPP1R26_ENST00000605660.1_Silent_p.D35D|PPP1R26_ENST00000605286.1_Silent_p.D35D|PPP1R26_ENST00000604351.1_Silent_p.D35D|PPP1R26_ENST00000401470.3_Silent_p.D35D|PPP1R26_ENST00000602993.1_Intron	p.D35D	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	654	+			35					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.105C>T	CCDS6988.1																																																																																				0.657	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		29	56	0	0	0	1	0	29	56					T	138376461	C	T	138376461	2	4	74	1	0	0	0	0	0	0	0	1	8187	535	19	1		1	KIAA0649	9	138376461	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		138376461	2836970	18	1400										
SVIL	6840	broad.mit.edu	37	chr10	29840161	29840161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	gtttgcttttctagagaagaAtcagaagtttcctcctcttc	7	9	3	3			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr10:29840161A>T	ENST00000355867.4	-	6	944	c.192T>A	c.(190-192)gaT>gaA	p.D64E	SVIL_ENST00000375400.3_Missense_Mutation_p.D64E|SVIL_ENST00000375398.2_Missense_Mutation_p.D64E	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	64	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTAGAGAAGAATCAGAAGTTT	0.458																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(190-192)gaT>gaA		supervillin							59	49	52					10																	29840161		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29840161A>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.192T>A	10.37:g.29840161A>T	ENSP00000348128:p.Asp64Glu					SVIL_ENST00000355867.4_Missense_Mutation_p.D64E|SVIL_ENST00000375400.3_Missense_Mutation_p.D64E	p.D64E			O95425	SVIL_HUMAN			8	641	-		Breast(68;0.103)	64			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.192T>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454035	0.43634	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.41065	1.01;1.01;1.01	5.41	-1.99	0.07457	.	0.904331	0.09632	N	0.776148	T	0.26557	0.0649	L	0.47716	1.5	0.80722	D	1	B;B	0.31274	0.003;0.317	B;B	0.26517	0.015;0.07	T	0.24440	-1.0160	9	.	.	.	-8.3486	1.8974	0.03261	0.4488:0.2275:0.2176:0.1061	.	64;64	O95425-2;O95425	.;SVIL_HUMAN	E	64	ENSP00000364549:D64E;ENSP00000364547:D64E;ENSP00000348128:D64E	.	D	-	3	2	SVIL	29880167	0.943000	0.32029	0.440000	0.26846	0.862000	0.49288	0.080000	0.14802	-0.230000	0.09840	0.482000	0.46254	GAT		0.458	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			17	39	0	0	0	1	0	17	39					T	29840161	A	T	29840161	3	4	74	1	0	0	0	0	1	0	0	0	15418	98	4	5	6584	5	SVIL	10	29840161	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08		29840161	105694586	19	1401										
RBP3	5949	broad.mit.edu	37	chr10	48390173	48390173	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	atgtcctcggccacgcccctGgtctggctgctggtgaggac	14	14	1	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr10:48390173G>T	ENST00000224600.4	-	1	818	c.705C>A	c.(703-705)acC>acA	p.T235T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	235	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACGCCCCTGGTCTGGCTGC	0.667																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(703-705)acC>acA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						75	66	69					10																	48390173		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390173G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.705C>A	10.37:g.48390173G>T							p.T235T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	818	-			235			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.705C>A	CCDS7218.1																																																																																				0.667	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	49	1	0	0.217242	1	0.217242	6	49					T	48390173	G	T	48390173	2	4	74	1	0	0	0	0	0	0	0	1	13157	1335	47	5		5	RBP3	10	48390173	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	18550012	48390173	87144574	20	1402										
KCNA6	3742	broad.mit.edu	37	chr12	4919742	4919742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	cggccaggggcatcgccatcGtctccgtgttggtcattctc	12	14	3	0			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr12:4919742G>A	ENST00000280684.3	+	1	1401	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	KCNA6_ENST00000433855.1_Missense_Mutation_p.V179I|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	179					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.V179I(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CATCGCCATCGTCTCCGTGTT	0.592										HNSCC(72;0.22)																												ENST00000433855.1																			1	Substitution - Missense(1)	p.V179I(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(535-537)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 6							67	59	62					12																	4919742		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919742G>A	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.535G>A	12.37:g.4919742G>A	ENSP00000280684:p.Val179Ile	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.V179I	p.V179I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1401	+			179						Missense_Mutation	SNP	ENST00000280684.3	37	c.535G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446111	0.43429	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76060	-0.99;-0.99	4.99	4.99	0.66335	.	0.127069	0.52532	D	0.000077	T	0.60560	0.2278	N	0.25647	0.755	0.58432	D	0.999995	B	0.29188	0.236	B	0.19148	0.024	T	0.57670	-0.7771	10	0.16896	T	0.51	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	179	P17658	KCNA6_HUMAN	I	179	ENSP00000408321:V179I;ENSP00000280684:V179I	ENSP00000280684:V179I	V	+	1	0	KCNA6	4790003	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.798000	0.85924	2.595000	0.87683	0.563000	0.77884	GTC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		27	43	0	0	0	1	0	27	43					A	4919742	G	A	4919742	3	1	74	1	0	0	0	0	1	0	0	0	8007	1145	40	1	537	1	KCNA6	12	4919742	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		4919742	128932153	21	1403										
KRT74	121391	broad.mit.edu	37	chr12	52967343	52967343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ccagagccaggcctgaagccGtaacctccagcccgaacgcc	10	18	0	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr12:52967343G>A	ENST00000305620.2	-	1	266	c.219C>T	c.(217-219)taC>taT	p.Y73Y	KRT74_ENST00000549343.1_Silent_p.Y73Y	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	73	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCTGAAGCCGTAACCTCCAG	0.617																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(217-219)taC>taT		keratin 74							41	48	46					12																	52967343		2203	4300	6503	SO:0001819	synonymous_variant	121391					keratin filament	structural molecule activity	g.chr12:52967343G>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.219C>T	12.37:g.52967343G>A						KRT74_ENST00000305620.2_Silent_p.Y73Y	p.Y73Y			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	1	257	-			73			Gly-rich.|Head.		B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	c.219C>T	CCDS8832.1																																																																																				0.617	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		17	43	0	0	0	1	0	17	43					A	52967343	G	A	52967343	2	1	74	1	0	0	0	0	0	0	0	1	8487	1140	40	1		1	KRT74	12	52967343	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	48047601	52967343	80884552	22	1404										
SPATA13	221178	broad.mit.edu	37	chr13	24858319	24858319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tctgccttagtggatgacaaCggtagtgaggaggacttcag	14	7	2	2	rs367888214		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr13:24858319C>T	ENST00000382095.4	+	4	743	c.336C>T	c.(334-336)aaC>aaT	p.N112N	SPATA13_ENST00000382108.3_Silent_p.N737N|RP11-307N16.6_ENST00000382141.4_Silent_p.N615N|SPATA13_ENST00000343003.6_Silent_p.N56N|SPATA13_ENST00000424834.2_Silent_p.N737N|SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000409126.1_Silent_p.N34N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493													c|||	1	0.000199681	0	0	5008	,	,		18956	0		0	False		,,,				2504	0.001					ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2209-2211)aaC>aaT		spermatogenesis associated 13		T	,	1,4405	2.1+/-5.4	0,1,2202	78	67	70		2211,336	-10	0	13		70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPATA13	NM_001166271.1,NM_153023.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	737/1278,112/653	24858319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24858319C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.336C>T	13.37:g.24858319C>T						SPATA13_ENST00000399949.2_Silent_p.N34N|SPATA13_ENST00000382108.3_Silent_p.N737N|SPATA13_ENST00000382095.4_Silent_p.N112N|SPATA13_ENST00000343003.6_Silent_p.N56N|SPATA13_ENST00000409126.1_Silent_p.N34N	p.N737N			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	7	2684	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	112					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.2211C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	c	0.206	-1.040986	0.02013	2.27E-4	0.0	ENSG00000182957	ENST00000424834	.	.	.	5.65	-9.98	0.00438	.	.	.	.	.	T	0.69735	0.3144	.	.	.	0.41835	D	0.990096	.	.	.	.	.	.	T	0.78071	-0.2347	4	.	.	.	.	20.865	0.99795	0.0:0.2172:0.0:0.7828	.	.	.	.	W	775	.	.	R	+	1	2	SPATA13	23756319	0.018000	0.18449	0.028000	0.17463	0.116000	0.19942	-1.365000	0.02587	-2.529000	0.00492	-2.133000	0.00342	CGG		0.493	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		4	54	0	0	0	1	0	4	54					T	24858319	C	T	24858319	2	4	74	1	0	0	0	0	0	0	0	1	14999	535	19	1		1	SPATA13	13	24858319	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		24858319	90311559	23	1405										
GPR132	29933	broad.mit.edu	37	chr14	105517581	105517581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ggtcagccacgccgttcaccGtggacaggcacagaaacacc	11	15	2	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr14:105517581G>A	ENST00000329797.3	-	4	1804	c.893C>T	c.(892-894)aCg>aTg	p.T298M	GPR132_ENST00000392585.2_Missense_Mutation_p.T289M|GPR132_ENST00000539291.2_Missense_Mutation_p.T298M|GPR132_ENST00000546679.1_5'Flank	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	298					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCCGTTCACCGTGGACAGGCA	0.562																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(892-894)aCg>aTg		G protein-coupled receptor 132							111	91	98					14																	105517581		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517581G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.893C>T	14.37:g.105517581G>A	ENSP00000328818:p.Thr298Met					GPR132_ENST00000392585.2_Missense_Mutation_p.T289M|GPR132_ENST00000539291.2_Missense_Mutation_p.T298M	p.T298M	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1804	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	298					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.893C>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273952	0.59649	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.71341	-0.56;-0.56;-0.56	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.122079	0.53938	D	0.000056	T	0.82208	0.4987	M	0.64676	1.99	0.45502	D	0.998464	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83726	0.0195	10	0.56958	D	0.05	.	16.9482	0.86236	0.0:0.0:1.0:0.0	.	289;298	B4E144;Q9UNW8	.;GP132_HUMAN	M	298;289;298	ENSP00000328818:T298M;ENSP00000376364:T289M;ENSP00000438094:T298M	ENSP00000328818:T298M	T	-	2	0	GPR132	104588626	1.000000	0.71417	0.533000	0.28001	0.507000	0.33981	5.178000	0.65037	2.300000	0.77407	0.563000	0.77884	ACG		0.562	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		13	41	0	0	0	1	0	13	41					A	105517581	G	A	105517581	3	1	74	1	0	0	0	0	1	0	0	0	6642	1145	40	1	253	1	GPR132	14	105517581	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		105517581	1831959	24	1406										
PRTG	283659	broad.mit.edu	37	chr15	56032588	56032605	+	In_Frame_Del	DEL	GCAAGATGAGCTTTTTGA	GCAAGATGAGCTTTTTGA	-													0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ttaaacacttacttgataagGcaagatgagctttttgacta							TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA	ENST00000561292.1	-	2	530_547	c.372_389delTCAAAAAGCTCATCTTGC	c.(370-390)agtcaaaaagctcatcttgcc>agc	p.QKAHLA125del	PRTG_ENST00000389286.4_In_Frame_Del_p.QKAHLA125del					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACTTGATAAGGCAAGATGAGCTTTTTGACTAAGAATGG	0.372																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(370-390)agc>ag		protogenin																																				SO:0001651	inframe_deletion	283659				multicellular organismal development	integral to membrane		g.chr15:56032588_56032605delGCAAGATGAGCTTTTTGA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.372_389delTCAAAAAGCTCATCTTGC	15.37:g.56032588_56032605delGCAAGATGAGCTTTTTGA	ENSP00000453335:p.Gln125_Ala130del					PRTG_ENST00000561292.1_In_Frame_Del_p.SQKAHLA124del	p.SQKAHLA124del	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	2	419_436	-			124			Ig-like 1.			In_Frame_Del	DEL	ENST00000561292.1	37	c.372_389delTCAAAAAGCTCATCTTGC																																																																																					0.372	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		24	139						24	139	---	---	---	---	-	56032605	GCAAGATGAGCTTTTTGA	-	56032588	7	5	74	1	0	1	0	1	0	0	0	0	12638	1203	42	0	3139	0	PRTG	15	56032588	In_Frame_Del	DEL	GCAAGATGAGCTTTTTGA	TCGA-RW-A680-01A-11D-A35D-08		56032588	46498804	25	1407										
IL16	3603	broad.mit.edu	37	chr15	81575036	81575036	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ttccctacttccaatgcatcTctggcattttcgtccacacg	5	15	1	0			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr15:81575036T>A	ENST00000302987.4	+	8	1138	c.1138T>A	c.(1138-1140)Tct>Act	p.S380T	IL16_ENST00000394660.2_Missense_Mutation_p.S380T			Q14005	IL16_HUMAN	interleukin 16	380	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCAATGCATCTCTGGCATTTT	0.607																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(1138-1140)Tct>Act		interleukin 16							163	172	169					15																	81575036		2144	4243	6387	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81575036T>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1138T>A	15.37:g.81575036T>A	ENSP00000302935:p.Ser380Thr					IL16_ENST00000302987.4_Missense_Mutation_p.S380T	p.S380T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			9	1498	+			380			Interaction with GRIN2A.|PDZ 2.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1138T>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616051	0.66672	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.16743	2.32;2.32	5.46	5.46	0.80206	PDZ/DHR/GLGF (3);	0.179052	0.27253	N	0.020213	T	0.23451	0.0567	N	0.16066	0.365	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.65684	0.867;0.937	T	0.09952	-1.0651	10	0.28530	T	0.3	.	15.5247	0.75894	0.0:0.0:0.0:1.0	.	380;380	Q14005;Q14005-2	IL16_HUMAN;.	T	380;380;212;380	ENSP00000378155:S380T;ENSP00000302935:S380T	ENSP00000302935:S380T	S	+	1	0	IL16	79362091	1.000000	0.71417	0.938000	0.37757	0.653000	0.38743	3.398000	0.52579	2.067000	0.61834	0.482000	0.46254	TCT		0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		5	202	0	0	0	1	0	5	202					A	81575036	T	A	81575036	3	1	74	1	0	0	0	0	1	0	0	0	7633	1551	54	5	1168	5	IL16	15	81575036	Missense_Mutation	SNP	T	TCGA-RW-A680-01A-11D-A35D-08	25542448	81575036	20956356	26	1408										
NOMO2	283820	broad.mit.edu	37	chr16	18532210	18532210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ttttctccctctcctgcctgCgggcctcgatctcagccagc	8	18	3	0	rs558016706	byFrequency	TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:18532210C>T	ENST00000381474.3	-	19	2215	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H|NOMO2_ENST00000330537.6_Missense_Mutation_p.R717H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	717						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTCCTGCCTGCGGGCCTCGAT	0.572													.|||	2	0.000399361	0	0	5008	,	,		22713	0		0.002	False		,,,				2504	0					ENST00000330537.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						c.(2149-2151)cGc>cAc		NODAL modulator 2																																				SO:0001583	missense	283820					endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:18532210C>T	AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2150G>A	16.37:g.18532210C>T	ENSP00000370883:p.Arg717His					NOMO2_ENST00000381474.3_Missense_Mutation_p.R717H|NOMO2_ENST00000543392.1_Missense_Mutation_p.R550H	p.R717H	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN			19	2320	-			717					Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	c.2150G>A	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.431639	0.83776	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04317	3.67;3.65;3.65	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.72075	0.976;0.813	T	0.52480	-0.8570	10	0.41790	T	0.15	-17.7164	14.2293	0.65879	0.0:1.0:0.0:0.0	.	550;717	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	717;717;550	ENSP00000331851:R717H;ENSP00000370883:R717H;ENSP00000439970:R550H	ENSP00000331851:R717H	R	-	2	0	NOMO2	18439711	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.873000	0.75541	1.845000	0.53610	0.455000	0.32223	CGC		0.572	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		4	147	0	0	0	1	0	4	147					T	18532210	C	T	18532210	3	4	74	1	0	0	0	0	1	0	0	0	10532	768	27	1	1713	1	NOMO2	16	18532210	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		18532210	71822543	27	1409										
DNAH3	55567	broad.mit.edu	37	chr16	20952798	20952798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ccacggggtacaacttcatgAcctcttccaggtcaaagtct	8	13	4	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr16:20952798A>G	ENST00000261383.3	-	59	11578	c.11579T>C	c.(11578-11580)gTc>gCc	p.V3860A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3860					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAACTTCATGACCTCTTCCAG	0.478																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(11578-11580)gTc>gCc		dynein, axonemal, heavy chain 3							205	192	197					16																	20952798		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952798A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11579T>C	16.37:g.20952798A>G	ENSP00000261383:p.Val3860Ala					DNAH3_ENST00000415178.1_3'UTR	p.V3860A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11578	-			3860					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11579T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	3.764	-0.048959	0.07407	.	.	ENSG00000158486	ENST00000261383	T	0.08458	3.09	5.79	5.79	0.91817	Dynein heavy chain (1);	0.437310	0.21555	N	0.072669	T	0.11324	0.0276	N	0.25332	0.735	0.58432	D	0.999996	P	0.46952	0.887	P	0.51516	0.672	T	0.28933	-1.0028	10	0.10377	T	0.69	.	16.1303	0.81428	1.0:0.0:0.0:0.0	.	3860	Q8TD57	DYH3_HUMAN	A	3860	ENSP00000261383:V3860A	ENSP00000261383:V3860A	V	-	2	0	DNAH3	20860299	0.287000	0.24315	0.072000	0.20136	0.957000	0.61999	4.310000	0.59141	2.218000	0.71995	0.533000	0.62120	GTC		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		96	147	0	0	0	1	0	96	147					G	20952798	A	G	20952798	3	3	74	1	0	0	0	0	1	0	0	0	4603	275	10	4	786	4	DNAH3	16	20952798	Missense_Mutation	SNP	A	TCGA-RW-A680-01A-11D-A35D-08	2420588	20952798	69401955	28	1410										
G6PC3	92579	broad.mit.edu	37	chr17	42153351	42153351	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	ccatgcctagtcctggccctCgtgccctgggcagtgcacat	11	16	0	0			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:42153351C>T	ENST00000269097.4	+	6	1212	c.981C>T	c.(979-981)ctC>ctT	p.L327L		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	327					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCTGGCCCTCGTGCCCTGGG	0.592																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(979-981)ctC>ctT		glucose 6 phosphatase, catalytic, 3							128	118	121					17																	42153351		2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153351C>T	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.981C>T	17.37:g.42153351C>T							p.L327L	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1212	+		Breast(137;0.00637)|Prostate(33;0.0313)	327					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.981C>T	CCDS11476.1																																																																																				0.592	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		16	152	0	0	0	1	0	16	152					T	42153351	C	T	42153351	2	4	74	1	0	0	0	0	0	0	0	1	6145	871	31	2		2	G6PC3	17	42153351	Silent	SNP	C	TCGA-RW-A680-01A-11D-A35D-08		42153351	39041859	29	1411										
CD300LB	124599	broad.mit.edu	37	chr17	72522084	72522084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tggtttcaatgaggatcttgCatgtatcccagcgcacccct	9	12	2	1	rs548897430		TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr17:72522084C>T	ENST00000392621.1	-	2	288	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	58	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAGGATCTTGCATGTATCCCA	0.542																																						ENST00000392621.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						c.(283-285)tGc>tAc		CD300 molecule-like family member b							223	201	208					17																	72522084		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522084C>T	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"Immunoglobulin superfamily / V-set domain containing"	30811	protein-coding gene	gene with protein product	"triggering receptor expressed on myeloid cells 5"	610705	"CD300 antigen like family member B"			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.284G>A	17.37:g.72522084C>T	ENSP00000376397:p.Cys95Tyr					CD300LB_ENST00000314401.3_Missense_Mutation_p.C95Y	p.C95Y	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN			2	288	-			58			Ig-like V-type.		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.284G>A	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481994	0.26598	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.04317	3.65	5.05	5.05	0.67936	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	T	0.35941	0.0949	H	0.97758	4.07	0.38017	D	0.934721	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61347	-0.7081	10	0.87932	D	0	-2.4659	16.2484	0.82467	0.0:1.0:0.0:0.0	.	95;58	B4DQ71;A8K4G0	.;CLM7_HUMAN	Y	58;95	ENSP00000317337:C95Y	ENSP00000317337:C95Y	C	-	2	0	CD300LB	70033679	0.979000	0.34478	0.247000	0.24249	0.003000	0.03518	4.458000	0.60095	2.495000	0.84180	0.563000	0.77884	TGC		0.542	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		25	198	0	0	0	1	0	25	198					T	72522084	C	T	72522084	3	4	74	1	0	0	0	0	1	0	0	0	2999	710	25	3	444	3	CD300LB	17	72522084	Missense_Mutation	SNP	C	TCGA-RW-A680-01A-11D-A35D-08	30368733	72522084	8673126	30	1412										
MEGF8	1954	broad.mit.edu	37	chr19	42874925	42874925	+	Frame_Shift_Del	DEL	G	G	-													0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	actgccagaataacagctatGgggagaaatgcgagagctgc							TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr19:42874925delG	ENST00000251268.6	+	40	7078	c.7078delG	c.(7078-7080)gggfs	p.G2360fs	MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000334370.4_Frame_Shift_Del_p.G2293fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2360					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TAACAGCTATGGGGAGAAATG	0.602																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6877-6879)ggfs		multiple EGF-like-domains 8							60	52	55					19																	42874925		2202	4296	6498	SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42874925delG	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7078delG	19.37:g.42874925delG	ENSP00000251268:p.Gly2360fs					MEGF8_ENST00000251268.6_Frame_Shift_Del_p.G2360fs|MEGF8_ENST00000378073.4_5'UTR	p.G2293fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			39	7512	+		Prostate(69;0.00682)	2360			Laminin EGF-like 3.		A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37	c.6877delG																																																																																					0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		2	4						2	4	---	---	---	---	-	42874925	G	-	42874925	7	5	74	1	0	1	0	1	0	0	0	0	9463	1348	47	0	7031	0	MEGF8	19	42874925	Frame_Shift_Del	DEL	G	TCGA-RW-A680-01A-11D-A35D-08		42874925	16254058	31	1413										
AURKC	6795	broad.mit.edu	37	chr19	57743156	57743156	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	cagcccagcagcccagccatGtgagtcccttgggattggta	12	13	0	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr19:57743156G>T	ENST00000302804.7	+	2	290		c.e2+1		AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000598785.1_Splice_Site|AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000599062.1_Splice_Site	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C						attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		gcccagcCATGTGAGTCCCTT	0.577																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.e2+1		aurora kinase C							104	102	103					19																	57743156		2203	4300	6503	SO:0001630	splice_region_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743156G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.104+1G>T	19.37:g.57743156G>T						AURKC_ENST00000448930.1_Splice_Site|AURKC_ENST00000415300.2_Splice_Site|AURKC_ENST00000599062.1_Splice_Site|AURKC_ENST00000598785.1_Splice_Site		NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	2	290	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)						O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Splice_Site	SNP	ENST00000302804.7	37		CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	2.710	-0.269055	0.05716	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	.	.	.	2.72	0.579	0.17397	.	.	.	.	.	.	.	.	.	.	.	0.24208	N	0.995486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.806	0.13321	0.2984:0.0:0.7016:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AURKC	62434968	0.676000	0.27567	0.068000	0.19968	0.002000	0.02628	0.657000	0.24963	0.241000	0.21283	-0.373000	0.07131	.		0.577	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	Intron	10	96	1	0	1.76689e-08	1	1.89017e-08	10	96					T	57743156	G	T	57743156	5	4	74	1	0	0	0	0	0	0	1	0	1224	1391	48	5	116	5	AURKC	19	57743156	Splice_Site	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	14868231	57743156	1385827	32	1414										
L3MBTL	26013	broad.mit.edu	37	chr20	42162707	42162707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	tggaagaaactggggcctctGctgtccccacctgggccttc	12	14	1	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr20:42162707G>A	ENST00000427442.2	+	14	1666	c.1507G>A	c.(1507-1509)Gct>Act	p.A503T	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A435T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A503T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	435					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGGGGCCTCTGCTGTCCCCAC	0.572																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1303-1305)Gct>Act		l(3)mbt-like 1 (Drosophila)							77	81	80					20																	42162707		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42162707G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1507G>A	20.37:g.42162707G>A	ENSP00000402107:p.Ala503Thr					L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A435T|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A503T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A435T|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A503T	p.A435T			Q9Y468	LMBL1_HUMAN			11	1435	+			435					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1303G>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947477	0.92593	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.92	4.97	0.65823	.	0.050077	0.85682	D	0.000000	T	0.61912	0.2385	M	0.61703	1.905	0.58432	D	0.999998	D;P;D;D	0.89917	0.963;0.927;1.0;0.998	P;P;D;D	0.72982	0.664;0.539;0.979;0.927	T	0.65421	-0.6172	10	0.62326	D	0.03	.	15.8684	0.79084	0.0:0.1445:0.8555:0.0	.	503;87;435;435	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	T	503;503;435;435;435;221;87	ENSP00000402107:A503T;ENSP00000398516:A503T;ENSP00000362227:A435T;ENSP00000403316:A435T;ENSP00000362226:A435T;ENSP00000410139:A221T	ENSP00000362225:A87T	A	+	1	0	L3MBTL1	41596121	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.706000	0.84615	1.495000	0.48549	0.655000	0.94253	GCT		0.572	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		4	92	0	0	0	1	0	4	92					A	42162707	G	A	42162707	3	1	74	1	0	0	0	0	1	0	0	0	8591	1319	46	3	1345	3	L3MBTL	20	42162707	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		42162707	20862813	33	1415										
LCA5L	150082	broad.mit.edu	37	chr21	40781999	40781999	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	gttgatttttctttatgatcGatgtttcctgttgccttttt	7	6	1	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chr21:40781999G>A	ENST00000358268.2	-	9	1716	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	LCA5L_ENST00000288350.3_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000380671.2_Silent_p.I396I			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	396										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTATGATCGATGTTTCCTG	0.308																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(1186-1188)atC>atT		Leber congenital amaurosis 5-like							162	147	152					21																	40781999		2201	4299	6500	SO:0001819	synonymous_variant	150082							g.chr21:40781999G>A	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1188C>T	21.37:g.40781999G>A						LCA5L_ENST00000380671.2_Silent_p.I396I|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.I396I|WRB_ENST00000541890.1_Intron	p.I396I			O95447	LCA5L_HUMAN			9	1716	-		Prostate(19;1.2e-06)	396					D3DSI0|Q3ZCT0	Silent	SNP	ENST00000358268.2	37	c.1188C>T	CCDS13665.1																																																																																				0.308	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		33	64	0	0	0	1	0	33	64					A	40781999	G	A	40781999	2	1	74	1	0	0	0	0	0	0	0	1	8657	1048	37	2		2	LCA5L	21	40781999	Silent	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		40781999	7347896	34	1416										
RPGR	6103	broad.mit.edu	37	chrX	38156540	38156540	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	agagtagcaaatgttacctgGttcctctggctgcatgaggt	12	8	1	2			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:38156540G>T	ENST00000339363.3	-	11	1578	c.1411C>A	c.(1411-1413)Cca>Aca	p.P471T	RPGR_ENST00000378505.2_Missense_Mutation_p.P471T|RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.P409T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	471					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATGTTACCTGGTTCCTCTGGC	0.393																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1411-1413)Cca>Aca		retinitis pigmentosa GTPase regulator							108	100	102					X																	38156540		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38156540G>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1411C>A	X.37:g.38156540G>T	ENSP00000343671:p.Pro471Thr					RPGR_ENST00000339363.3_Missense_Mutation_p.P471T|RPGR_ENST00000318842.7_Missense_Mutation_p.P471T|RPGR_ENST00000342811.3_Missense_Mutation_p.P471T|RPGR_ENST00000338898.3_Missense_Mutation_p.P471T|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.P409T	p.P471T	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			11	1587	-			471					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1411C>A		.	.	.	.	.	.	.	.	.	.	G	10.26	1.302512	0.23736	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.50001	1.27;0.89;0.76;1.35;1.34;1.28	4.75	1.16	0.20824	.	0.686688	0.13173	N	0.408136	T	0.49779	0.1577	M	0.69823	2.125	0.09310	N	1	P;D	0.62365	0.882;0.991	P;P	0.57101	0.449;0.813	T	0.44544	-0.9321	10	0.07482	T	0.82	.	3.2833	0.06922	0.3111:0.2081:0.4808:0.0	.	471;471	E9PE28;Q92834-2	.;.	T	471;409;471;471;471;471	ENSP00000343671:P471T;ENSP00000308783:P409T;ENSP00000340208:P471T;ENSP00000322219:P471T;ENSP00000339531:P471T;ENSP00000367766:P471T	ENSP00000308783:P409T	P	-	1	0	RPGR	38041484	0.683000	0.27633	0.290000	0.24890	0.047000	0.14425	0.584000	0.23864	0.348000	0.23949	0.596000	0.82720	CCA		0.393	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		7	97	1	0	0.0381472	1	0.0389949	7	97					T	38156540	G	T	38156540	3	4	74	1	0	0	0	0	1	0	0	0	13548	1261	44	5	2626	5	RPGR	23	38156540	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08		38156540	117114020	35	1417										
ATRX	546	broad.mit.edu	37	chrX	76855943	76855943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	agtctagctgcaaacaccaaGgatgagtccatattctactt	7	10	2	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:76855943G>A	ENST00000373344.5	-	23	5871	c.5657C>T	c.(5656-5658)cCt>cTt	p.P1886L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1886					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAAACACCAAGGATGAGTCCA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5656-5658)cCt>cTt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						203	179	187					X																	76855943		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855943G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5657C>T	X.37:g.76855943G>A	ENSP00000362441:p.Pro1886Leu					ATRX_ENST00000395603.3_Missense_Mutation_p.P1848L|ATRX_ENST00000480283.1_5'UTR	p.P1886L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			23	5871	-			1886					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5657C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735976	0.69189	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94184	-3.37;-3.37	5.26	5.26	0.73747	SNF2-related (1);	0.000000	0.64402	U	0.000001	D	0.98160	0.9392	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99851	1.1071	10	0.87932	D	0	-8.1757	17.9366	0.89014	0.0:0.0:1.0:0.0	.	1848;1886	P46100-4;P46100	.;ATRX_HUMAN	L	1886;1848	ENSP00000362441:P1886L;ENSP00000378967:P1848L	ENSP00000362441:P1886L	P	-	2	0	ATRX	76742599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.169000	0.68431	0.538000	0.68166	CCT		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		175	302	0	0	0	1	0	175	302					A	76855943	G	A	76855943	3	1	74	1	0	0	0	0	1	0	0	0	1208	1000	35	3	1873	3	ATRX	23	76855943	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	38699403	76855943	78414617	36	1418										
MAGEC1	9947	broad.mit.edu	37	chrX	140996020	140996020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.027027027027027	1	1	0.346666666666667	0	0.385185185185185	1	1	0	atgtcatcagcaggtacacgGgctactttcctgtgatcttc	9	11	3	1			TCGA-RW-A680-01A-11D-A35D-08	TCGA-RW-A680-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	077f4d33-fea4-4312-895b-f518b45ca082	35b38d0c-514b-4879-939f-ffa2d8872058	g.chrX:140996020G>T	ENST00000285879.4	+	4	3116	c.2830G>T	c.(2830-2832)Ggc>Tgc	p.G944C	MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	944	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTACACGGGCTACTTTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2830-2832)Ggc>Tgc		melanoma antigen family C, 1							146	135	139					X																	140996020		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996020G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2830G>T	X.37:g.140996020G>T	ENSP00000285879:p.Gly944Cys	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.G11C	p.G944C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3116	+	Acute lymphoblastic leukemia(192;6.56e-05)		944			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2830G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.078	0.569720	0.13560	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04809	3.55;3.55	0.837	-0.194	0.13240	.	.	.	.	.	T	0.11580	0.0282	L	0.48642	1.525	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.17561	-1.0365	8	0.72032	D	0.01	.	.	.	.	.	944	O60732	MAGC1_HUMAN	C	944;11	ENSP00000285879:G944C;ENSP00000385500:G11C	ENSP00000285879:G944C	G	+	1	0	MAGEC1	140823686	0.000000	0.05858	0.001000	0.08648	0.218000	0.24690	-0.185000	0.09684	-0.128000	0.11641	0.279000	0.19357	GGC		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		116	161	1	0	9.53958e-58	1	1.07029e-57	116	161					T	140996020	G	T	140996020	3	4	74	1	0	0	0	0	1	0	0	0	9180	1232	43	5	2836	5	MAGEC1	23	140996020	Missense_Mutation	SNP	G	TCGA-RW-A680-01A-11D-A35D-08	64140077	140996020	14274540	37	1419										
ACAP3	116983	broad.mit.edu	37	chr1	1233463	1233463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggcttcacagagcacaggcGgaggtcatccaccaccacgg	12	15	2	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:1233463G>A	ENST00000354700.5	-	13	1148	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C|ACAP3_ENST00000379037.2_5'UTR	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	316	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GAGCACAGGCGGAGGTCATCC	0.682																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(946-948)Cgc>Tgc		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							37	38	37					1																	1233463		2186	4292	6478	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233463G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.946C>T	1.37:g.1233463G>A	ENSP00000346733:p.Arg316Cys					ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C|ACAP3_ENST00000379037.2_5'UTR	p.R316C	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			13	1148	-			316			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.946C>T	CCDS19.2	.	.	.	.	.	.	.	.	.	.	g	15.23	2.771738	0.49680	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.76186	-1.0;-1.0	3.35	3.35	0.38373	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067352	0.56097	D	0.000021	D	0.85017	0.5601	M	0.79926	2.475	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.938	D	0.86970	0.2097	10	0.87932	D	0	.	12.2385	0.54528	0.0:0.0:0.8178:0.1822	.	316;274	Q96P50;Q96P50-1	ACAP3_HUMAN;.	C	316;274	ENSP00000346733:R316C;ENSP00000321139:R274C	ENSP00000321139:R274C	R	-	1	0	ACAP3	1223326	0.994000	0.37717	0.999000	0.59377	0.863000	0.49368	2.139000	0.42149	2.168000	0.68352	0.450000	0.29827	CGC		0.682	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		3	19	0	0	0	1	0	3	19					A	1233463	G	A	1233463	3	1	75	1	0	0	0	0	1	0	0	0	120	1116	39	2	1606	2	ACAP3	1	1233463	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		1233463	248017158	1	1420										
CLCA1	1179	broad.mit.edu	37	chr1	86934788	86934788	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aatcgaccccaatgtgccagAagatgaaacactcattcaac	6	12	2	3			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:86934788A>C	ENST00000234701.3	+	2	485	c.134A>C	c.(133-135)gAa>gCa	p.E45A	CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	45					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AATGTGCCAGAAGATGAAACA	0.383																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(133-135)gAa>gCa		chloride channel accessory 1							109	102	104					1																	86934788		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86934788A>C		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.134A>C	1.37:g.86934788A>C	ENSP00000234701:p.Glu45Ala					CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A	p.E45A			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	2	485	+		Lung NSC(277;0.239)	45					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.134A>C	CCDS709.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310106	0.81358	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.20463	2.07;2.07	5.96	5.96	0.96718	Chloride channel calcium-activated (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.88979	2.995	0.40899	D	0.984134	D	0.89917	1.0	D	0.97110	1.0	T	0.57653	-0.7774	10	0.87932	D	0	-33.4244	15.4272	0.75061	1.0:0.0:0.0:0.0	.	45	A8K7I4	CLCA1_HUMAN	A	45	ENSP00000234701:E45A;ENSP00000378200:E45A	ENSP00000234701:E45A	E	+	2	0	CLCA1	86707376	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.882000	0.69714	2.284000	0.76573	0.528000	0.53228	GAA		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		31	0	0	0	0	1	0	31	0					C	86934788	A	C	86934788	3	2	75	1	0	0	0	0	1	0	0	0	3457	246	9	5	136	5	CLCA1	1	86934788	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	85701325	86934788	162315833	2	1421										
CSDE1	7812	broad.mit.edu	37	chr1	115268982	115268985	+	Frame_Shift_Del	DEL	TGTT	TGTT	-													0	0	1	0	0	0	1	1	0	caacctgctgtccaggcctcTgtttgtcactaatactaaat							TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:115268982_115268985delTGTT	ENST00000358528.4	-	14	1913_1916	c.1487_1490delAACA	c.(1486-1491)aaacagfs	p.KQ496fs	CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.KQ366fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000438362.2_Frame_Shift_Del_p.KQ542fs|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	496	CSD 6.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGGCCTCTGTTTGTCACTAAT	0.397																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1624-1629)agfs		cold shock domain containing E1, RNA-binding																																				SO:0001589	frameshift_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115268982_115268985delTGTT		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1487_1490delAACA	1.37:g.115268982_115268985delTGTT	ENSP00000351329:p.Lys496fs					CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.KQ366fs	p.KQ542fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2003_2006	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	496			CSD 7.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Del	DEL	ENST00000358528.4	37	c.1625_1628delAACA	CCDS30812.1																																																																																				0.397	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		30	9						30	9	---	---	---	---	-	115268985	TGTT	-	115268982	7	5	75	1	0	1	0	1	0	0	0	0	3929	1580	55	0	934	0	CSDE1	1	115268982	Frame_Shift_Del	DEL	TGTT	TCGA-RW-A681-01A-11D-A35D-08	28334194	115268982	133981639	3	1422										
ATP6V1G3	127124	broad.mit.edu	37	chr1	198498307	198498307	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttgcttcaatcgctttccTtttcctgaaaattaacaaat	4	10	1	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr1:198498307T>A	ENST00000367382.1	-	2	171	c.87A>T	c.(85-87)aaA>aaT	p.K29N	ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.R45W			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	29					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ATCGCTTTCCTTTTCCTGAAA	0.254																																						ENST00000309309.7																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(133-135)Agg>Tgg		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							107	101	103					1																	198498307		2202	4298	6500	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198498307T>A	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"ATPases / V-type"	18265	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.87A>T	1.37:g.198498307T>A	ENSP00000356352:p.Lys29Asn					ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K29N	p.R45W	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN			4	238	-			0					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.133A>T	CCDS1395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.17|18.17	3.563555|3.563555	0.65651|0.65651	.|.	.|.	ENSG00000151418|ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986|ENST00000309309	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.18|5.18	2.86|2.86	0.33363|0.33363	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62134|0.62134	0.2403|0.2403	.|.	.|.	.|.	0.46586|0.46586	D|D	0.999114|0.999114	D;D|D	0.76494|0.61697	0.999;0.999|0.99	D;D|P	0.74023|0.53313	0.982;0.979|0.723	T|T	0.63699|0.63699	-0.6578|-0.6578	9|7	0.87932|0.87932	D|D	0|0	-43.4432|-43.4432	7.083|7.083	0.25241|0.25241	0.0:0.2508:0.0:0.7492|0.0:0.2508:0.0:0.7492	.|.	35;29|45	Q96LB4-4;Q96LB4|Q96LB4-3	.;VATG3_HUMAN|.	N|W	29;35;29;35|45	ENSP00000356352:K29N;ENSP00000356351:K35N;ENSP00000281087:K29N;ENSP00000417171:K35N|.	ENSP00000281087:K29N|ENSP00000309574:R45W	K|R	-|-	3|1	2|2	ATP6V1G3|ATP6V1G3	196764930|196764930	0.843000|0.843000	0.29541|0.29541	0.957000|0.957000	0.39632|0.39632	0.967000|0.967000	0.64934|0.64934	0.494000|0.494000	0.22467|0.22467	0.925000|0.925000	0.37094|0.37094	0.528000|0.528000	0.53228|0.53228	AAA|AGG		0.254	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		18	28	0	0	0	1	0	18	28					A	198498307	T	A	198498307	3	1	75	1	0	0	0	0	1	0	0	0	1188	1609	56	5	277	5	ATP6V1G3	1	198498307	Missense_Mutation	SNP	T	TCGA-RW-A681-01A-11D-A35D-08	83229325	198498307	50752314	4	1423										
PNPT1	87178	broad.mit.edu	37	chr2	55900135	55900135	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaatgccctgaattatttgTtgggtatatttcactcccac	7	9	1	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:55900135T>C	ENST00000447944.2	-	9	845	c.759A>G	c.(757-759)caA>caG	p.Q253Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	253					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAATTATTTGTTGGGTATATT	0.388																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(757-759)caA>caG		polyribonucleotide nucleotidyltransferase 1							124	131	129					2																	55900135		2203	4300	6503	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55900135T>C	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.759A>G	2.37:g.55900135T>C							p.Q253Q	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	845	-			253					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.759A>G	CCDS1856.1																																																																																				0.388	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		39	94	0	0	0	1	0	39	94					C	55900135	T	C	55900135	2	2	75	1	0	0	0	0	0	0	0	1	12173	1722	60	4		4	PNPT1	2	55900135	Silent	SNP	T	TCGA-RW-A681-01A-11D-A35D-08		55900135	187299238	5	1424										
DCAF17	80067	broad.mit.edu	37	chr2	172306405	172306405	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagatacttgagctgggacActcctcaagaagtcattgca	9	9	2	3			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:172306405A>T	ENST00000375255.3	+	5	802	c.475A>T	c.(475-477)Act>Tct	p.T159S	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	159					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GAGCTGGGACACTCCTCAAGA	0.338																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(475-477)Act>Tct		DDB1 and CUL4 associated factor 17							47	48	48					2																	172306405		1847	4101	5948	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172306405A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"DDB1 and CUL4 associated factors"	25784	protein-coding gene	gene with protein product	"Woodhouse-Sakati syndrome"	612515	"chromosome 2 open reading frame 37"	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.475A>T	2.37:g.172306405A>T	ENSP00000364404:p.Thr159Ser					DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S	p.T159S	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			5	802	+			159					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.475A>T	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034928	0.54896	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.43294	0.95;0.96	5.43	5.43	0.79202	.	0.123535	0.56097	D	0.000029	T	0.45856	0.1363	L	0.35414	1.06	0.30543	N	0.766237	D;D	0.71674	0.998;0.982	D;P	0.63033	0.91;0.831	T	0.41556	-0.9502	10	0.20046	T	0.44	-14.5626	9.958	0.41680	0.923:0.0:0.077:0.0	.	159;159	F5H7W1;Q5H9S7	.;DCA17_HUMAN	S	159	ENSP00000364404:T159S;ENSP00000442238:T159S	ENSP00000364404:T159S	T	+	1	0	DCAF17	172014651	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.607000	0.54102	2.199000	0.70637	0.529000	0.55759	ACT		0.338	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		3	43	0	0	0	1	0	3	43					T	172306405	A	T	172306405	3	4	75	1	0	0	0	0	1	0	0	0	4269	159	6	5	493	5	DCAF17	2	172306405	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	116406270	172306405	70892968	6	1425										
TTN	7273	broad.mit.edu	37	chr2	179455966	179455966	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaacagtaagatgtacggcTactgttttgctaccggctgc	11	9	0	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr2:179455966T>A	ENST00000591111.1	-	254	55787	c.55563A>T	c.(55561-55563)gtA>gtT	p.V18521V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.V20162V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18521	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTACGGCTACTGTTTTGC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60484-60486)gtA>gtT		titin							227	230	229					2																	179455966		1915	4126	6041	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455966T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55563A>T	2.37:g.179455966T>A						TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V18521V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.V20162V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60710	-			18521			Fibronectin type-III 46.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60486A>T																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	113	0	0	0	1	0	55	113					A	179455966	T	A	179455966	2	1	75	1	0	0	0	0	0	0	0	1	16732	1509	53	5		5	TTN	2	179455966	Silent	SNP	T	TCGA-RW-A681-01A-11D-A35D-08	7149561	179455966	63743407	7	1426										
TTLL3	26140	broad.mit.edu	37	chr3	9859359	9859359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctcaatctccggaatttgCcgtggtttgatgaggttgat	12	7	2	3			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr3:9859359C>T	ENST00000547186.1	+	5	562	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000430793.1_5'Flank|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000383827.1_5'Flank|TTLL3_ENST00000455274.1_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	116					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.P116S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCGGAATTTGCCGTGGTTTGA	0.547																																						ENST00000547186.1																			1	Substitution - Missense(1)	p.P116S(1)	lung(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(346-348)Ccg>Tcg		tubulin tyrosine ligase-like family, member 3							170	158	162					3																	9859359		2057	4209	6266	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9859359C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.346C>T	3.37:g.9859359C>T	ENSP00000446659:p.Pro116Ser					TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR	p.P116S	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN			5	562	+	Medulloblastoma(99;0.227)		116					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.346C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.999438|3.999438	0.74818|0.74818	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252;ENST00000452823|ENST00000397256;ENST00000417065;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000443148	.|T;T;T;T;T;T	.|0.42131	.|3.56;0.98;3.53;3.71;3.19;3.76	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|1.037930	.|0.07660	.|U	.|0.933401	T|T	0.49304|0.49304	0.1549|0.1549	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18310	.|0.017;0.027	.|B;B	.|0.20577	.|0.03;0.03	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.21540	.|T	.|0.41	.|.	18.0543|18.0543	0.89360|0.89360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|55;116	.|B4DM47;Q9Y4R7	.|.;TTLL3_HUMAN	V|S	71;66|210;116;259;116;159;54	.|ENSP00000380427:P210S;ENSP00000408128:P116S;ENSP00000392549:P259S;ENSP00000446659:P116S;ENSP00000389904:P159S;ENSP00000398097:P54S	.|ENSP00000380427:P210S	A|P	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9834359|9834359	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.986000|0.986000	0.74619|0.74619	5.259000|5.259000	0.65485|0.65485	2.344000|2.344000	0.79699|0.79699	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.547	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		4	160	0	0	0	1	0	4	160					T	9859359	C	T	9859359	3	4	75	1	0	0	0	0	1	0	0	0	16725	739	26	3	360	3	TTLL3	3	9859359	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08		9859359	188163071	8	1427										
PCDHGA8	9708	broad.mit.edu	37	chr5	140773281	140773281	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaatgaaaatactggggaaAtatcaatagcaaaaagtcta	7	4	2	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr5:140773281A>G	ENST00000398604.2	+	1	901	c.901A>G	c.(901-903)Ata>Gta	p.I301V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGGGGAAATATCAATAGC	0.388																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(901-903)Ata>Gta									87	92	91					5																	140773281		1818	4083	5901	SO:0001583	missense	9708							g.chr5:140773281A>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.901A>G	5.37:g.140773281A>G	ENSP00000381605:p.Ile301Val					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.I301V	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	901	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.901A>G	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.282012	0.23392	.	.	ENSG00000253767	ENST00000398604	T	0.64085	-0.08	5.41	2.94	0.34122	Cadherin (4);Cadherin-like (1);	0.643881	0.11092	U	0.600630	T	0.57607	0.2065	L	0.41961	1.31	0.25029	N	0.991288	B;B	0.30361	0.101;0.277	B;B	0.34590	0.186;0.117	T	0.50215	-0.8854	10	0.49607	T	0.09	.	12.1072	0.53820	0.728:0.272:0.0:0.0	.	301;301	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	301	ENSP00000381605:I301V	ENSP00000381605:I301V	I	+	1	0	PCDHGA8	140753465	0.000000	0.05858	0.989000	0.46669	0.963000	0.63663	-0.120000	0.10660	0.334000	0.23590	-0.313000	0.08912	ATA		0.388	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		3	85	0	0	0	1	0	3	85					G	140773281	A	G	140773281	3	3	75	1	0	0	0	0	1	0	0	0	11560	101	4	4	903	4	PCDHGA8	5	140773281	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08		140773281	40141979	9	1428										
FAM193B	54540	broad.mit.edu	37	chr5	176952164	176952164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttccagaaacacgatttgCctgctttagagcttctgctg	9	11	1	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr5:176952164C>T	ENST00000514747.1	-	6	1366	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.A66T|FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	520						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						ACACGATTTGCCTGCTTTAGA	0.577																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(196-198)Gca>Aca		family with sequence similarity 193, member B							29	30	29					5																	176952164		1958	4145	6103	SO:0001583	missense	54540							g.chr5:176952164C>T		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1318G>A	5.37:g.176952164C>T	ENSP00000422131:p.Ala440Thr					FAM193B_ENST00000514747.1_Missense_Mutation_p.A440T|FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T	p.A66T			Q6IPW0	Q6IPW0_HUMAN			9	3025	-			116					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.196G>A	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.305|4.305	0.055904|0.055904	0.08291|0.08291	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.44083|.	0.93;0.95;0.95|.	5.65|5.65	2.88|2.88	0.33553|0.33553	.|.	1.171480|.	0.05823|.	N|.	0.616041|.	T|T	0.16811|0.16811	0.0404|0.0404	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.12013|.	0.005;0.005;0.001|.	B;B;B|.	0.08055|.	0.003;0.003;0.003|.	T|T	0.20075|0.20075	-1.0286|-1.0286	10|5	0.16896|.	T|.	0.51|.	2.4304|2.4304	8.761|8.761	0.34674|0.34674	0.0:0.6679:0.0:0.3321|0.0:0.6679:0.0:0.3321	.|.	440;66;407|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	T|D	440;407;66|125	ENSP00000422131:A440T;ENSP00000410098:A407T;ENSP00000332014:A66T|.	ENSP00000332014:A66T|.	A|G	-|-	1|2	0|0	FAM193B|FAM193B	176884770|176884770	0.009000|0.009000	0.17119|0.17119	0.706000|0.706000	0.30403|0.30403	0.239000|0.239000	0.25481|0.25481	0.736000|0.736000	0.26130|0.26130	1.388000|1.388000	0.46506|0.46506	0.563000|0.563000	0.77884|0.77884	GCA|GGC		0.577	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		3	34	0	0	0	1	0	3	34					T	176952164	C	T	176952164	3	4	75	1	0	0	0	0	1	0	0	0	5525	739	26	3	1162	3	FAM193B	5	176952164	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	36178883	176952164	3963096	10	1429										
COL12A1	1303	broad.mit.edu	37	chr6	75811733	75811733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgttcggcctggaagtccTggctctccagcatcaccttt	9	14	2	0			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr6:75811733T>C	ENST00000322507.8	-	57	8760	c.8451A>G	c.(8449-8451)ccA>ccG	p.P2817P	COL12A1_ENST00000483888.2_Silent_p.P2817P|COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000416123.2_Silent_p.P2741P|COL12A1_ENST00000345356.6_Silent_p.P1653P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2817	Collagen-like 2.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGAAGTCCTGGCTCTCCAG	0.458																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(8449-8451)ccA>ccG		collagen, type XII, alpha 1							217	218	218					6																	75811733		1959	4144	6103	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75811733T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8451A>G	6.37:g.75811733T>C						COL12A1_ENST00000345356.6_Silent_p.P1653P|COL12A1_ENST00000483888.2_Silent_p.P2817P|COL12A1_ENST00000416123.2_Silent_p.P2741P	p.P2817P	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			57	8760	-			2817			Triple-helical region (COL2) with 1 imperfection.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.8451A>G	CCDS43482.1																																																																																				0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	150	0	0	0	1	0	4	150					C	75811733	T	C	75811733	2	2	75	1	0	0	0	0	0	0	0	1	3669	1567	55	4		4	COL12A1	6	75811733	Silent	SNP	T	TCGA-RW-A681-01A-11D-A35D-08		75811733	95303334	11	1430										
ABCA13	154664	broad.mit.edu	37	chr7	48314395	48314395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtggtcaatttgcttgttgGcttgatggaaaaatttgcag	12	4	1	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:48314395G>T	ENST00000435803.1	+	17	5156	c.5132G>T	c.(5131-5133)gGc>gTc	p.G1711V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1711					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGCTTGTTGGCTTGATGGAA	0.393																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5131-5133)gGc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							90	87	88					7																	48314395		1915	4122	6037	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314395G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5132G>T	7.37:g.48314395G>T	ENSP00000411096:p.Gly1711Val						p.G1711V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5156	+			1711					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5132G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	3.994	-0.003906	0.07773	.	.	ENSG00000179869	ENST00000435803	D	0.86497	-2.13	5.81	1.85	0.25348	.	0.790281	0.10786	N	0.634373	D	0.84741	0.5539	L	0.50333	1.59	0.09310	N	1	P	0.45396	0.857	P	0.44477	0.451	T	0.71613	-0.4540	9	.	.	.	.	10.7611	0.46266	0.3788:0.0:0.6212:0.0	.	1711	Q86UQ4	ABCAD_HUMAN	V	1711	ENSP00000411096:G1711V	.	G	+	2	0	ABCA13	48284941	0.100000	0.21855	0.011000	0.14972	0.023000	0.10783	0.241000	0.18065	0.080000	0.16959	-1.151000	0.01829	GGC		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		16	65	1	0	2.5808e-16	1	2.91167e-16	16	65					T	48314395	G	T	48314395	3	4	75	1	0	0	0	0	1	0	0	0	31	1203	42	5	5027	5	ABCA13	7	48314395	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		48314395	110824268	12	1431										
ZNF394	84124	broad.mit.edu	37	chr7	99091213	99091213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tttgatgaattctttggtgtCggataaggtgtgtactttgt	12	3	1	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:99091213C>T	ENST00000337673.6	-	3	1828	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	ZNF394_ENST00000394177.3_5'Flank|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	542					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTTTGGTGTCGGATAAGGTG	0.463																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(1624-1626)cGa>cAa		zinc finger protein 394							162	159	160					7																	99091213		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091213C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1625G>A	7.37:g.99091213C>T	ENSP00000337363:p.Arg542Gln					ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	p.R542Q	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			3	1828	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		542					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1625G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832288	0.32421	.	.	ENSG00000160908	ENST00000337673	T	0.09630	2.96	3.29	2.4	0.29515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.222920	0.23241	N	0.050348	T	0.03263	0.0095	N	0.05050	-0.12	0.58432	D	0.999997	B	0.28850	0.225	B	0.21917	0.037	T	0.35475	-0.9787	10	0.06891	T	0.86	.	4.213	0.10521	0.2257:0.6527:0.0:0.1216	.	542	Q53GI3	ZN394_HUMAN	Q	542	ENSP00000337363:R542Q	ENSP00000337363:R542Q	R	-	2	0	ZNF394	98929149	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.019000	0.12546	0.964000	0.38108	0.655000	0.94253	CGA		0.463	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		75	81	0	0	0	1	0	75	81					T	99091213	C	T	99091213	3	4	75	1	0	0	0	0	1	0	0	0	17877	884	31	2	64	2	ZNF394	7	99091213	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	50776818	99091213	60047450	13	1432										
SVOPL	136306	broad.mit.edu	37	chr7	138313042	138313042	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgactttgaaccacagacCaagtcccgctccagcagctc	7	16	1	3			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr7:138313042C>A	ENST00000419765.3	-	10	963	c.930G>T	c.(928-930)ttG>ttT	p.L310F	SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F|SVOPL_ENST00000463557.1_5'Flank|SVOPL_ENST00000421622.1_Missense_Mutation_p.L190F	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	310						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACCACAGACCAAGTCCCGCT	0.562																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(568-570)ttG>ttT		SVOP-like							93	91	91					7																	138313042		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138313042C>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.930G>T	7.37:g.138313042C>A	ENSP00000405482:p.Leu310Phe					SVOPL_ENST00000419765.3_Missense_Mutation_p.L310F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F|SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F	p.L190F			Q8N434	SVOPL_HUMAN			7	778	-			310						Missense_Mutation	SNP	ENST00000419765.3	37	c.570G>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537681	0.45176	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.73789	-0.01;0.07;-0.01;-0.78	4.32	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.174764	0.39083	N	0.001468	T	0.72095	0.3418	N	0.24115	0.695	0.42095	D	0.991318	D;D	0.89917	0.999;1.0	D;D	0.75020	0.985;0.97	T	0.70777	-0.4780	10	0.51188	T	0.08	-14.8231	5.9222	0.19088	0.1498:0.6812:0.0:0.169	.	310;158	Q8N434;Q8N434-2	SVOPL_HUMAN;.	F	158;190;158;310	ENSP00000288513:L158F;ENSP00000412830:L190F;ENSP00000417018:L158F;ENSP00000405482:L310F	ENSP00000288513:L158F	L	-	3	2	SVOPL	137963582	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	1.100000	0.31025	1.033000	0.39918	0.563000	0.77884	TTG		0.562	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		17	23	1	0	5.01169e-05	1	5.3784e-05	17	23					A	138313042	C	A	138313042	3	1	75	1	0	0	0	0	1	0	0	0	15421	593	21	5	572	5	SVOPL	7	138313042	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	39221829	138313042	20825621	14	1433										
DIP2C	22982	broad.mit.edu	37	chr10	445145	445145	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gcagccggatcattgttgggGaacaccagtgccacctgtgg	14	11	1	0			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:445145G>C	ENST00000280886.6	-	10	1251	c.1164C>G	c.(1162-1164)ttC>ttG	p.F388L	DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	388						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATTGTTGGGGAACACCAGTG	0.617																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1162-1164)ttC>ttG		DIP2 disco-interacting protein 2 homolog C (Drosophila)							82	69	74					10																	445145		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:445145G>C	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1164C>G	10.37:g.445145G>C	ENSP00000280886:p.Phe388Leu					DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L	p.F388L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	10	1251	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	388					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1164C>G	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	g	17.16	3.319654	0.60524	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.34859	1.34;1.34	5.58	1.52	0.23074	AMP-dependent synthetase/ligase (1);	0.051424	0.85682	D	0.000000	T	0.40322	0.1112	M	0.64997	1.995	0.42356	D	0.992393	B;B	0.33549	0.417;0.347	B;B	0.42163	0.292;0.378	T	0.36456	-0.9747	10	0.66056	D	0.02	-31.3934	9.9782	0.41797	0.2761:0.0:0.7239:0.0	.	281;388	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	L	388;281	ENSP00000280886:F388L;ENSP00000370907:F281L	ENSP00000280886:F388L	F	-	3	2	DIP2C	435145	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	0.642000	0.24735	0.257000	0.21650	0.558000	0.71614	TTC		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		21	36	0	0	0	1	0	21	36					C	445145	G	C	445145	3	2	75	1	0	0	0	0	1	0	0	0	4529	1165	41	5	3618	5	DIP2C	10	445145	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		445145	135089602	15	1434										
SLIT1	6585	broad.mit.edu	37	chr10	98808821	98808821	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgggattggtgcgcaggaaGtctgccagccacttgaggtt	15	8	1	1	rs561139048		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:98808821G>A	ENST00000266058.4	-	14	1601	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D	SLIT1_ENST00000371070.4_Silent_p.D452D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	452	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCGCAGGAAGTCTGCCAGCC	0.582													G|||	1	0.000199681	0	0	5008	,	,		17509	0		0	False		,,,				2504	0.001					ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1354-1356)gaC>gaT		slit homolog 1 (Drosophila)							74	67	69					10																	98808821		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808821G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1356C>T	10.37:g.98808821G>A						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D452D	p.D452D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1601	-		Colorectal(252;0.162)	452			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1356C>T	CCDS7453.1																																																																																				0.582	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		9	57	0	0	0	1	0	9	57					A	98808821	G	A	98808821	2	1	75	1	0	0	0	0	0	0	0	1	14739	1020	36	3		3	SLIT1	10	98808821	Silent	SNP	G	TCGA-RW-A681-01A-11D-A35D-08	98363676	98808821	36725926	16	1435										
WDR11	55717	broad.mit.edu	37	chr10	122619631	122619631	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctttccagatgttcagtgGttgtggaatcaagatgcttc	11	7	3	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr10:122619631G>C	ENST00000263461.6	+	4	609	c.363G>C	c.(361-363)tgG>tgC	p.W121C		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	275					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGTTCAGTGGTTGTGGAATC	0.428																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(361-363)tgG>tgC		WD repeat domain 11							169	144	152					10																	122619631		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619631G>C	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.363G>C	10.37:g.122619631G>C	ENSP00000263461:p.Trp121Cys						p.W121C	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			4	609	+			121					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.363G>C	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820999	0.50633	.	.	ENSG00000120008	ENST00000263461	T	0.34859	1.34	5.74	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64356	-0.6427	10	0.87932	D	0	-5.8406	14.7366	0.69419	0.0693:0.0:0.9307:0.0	.	121	Q9BZH6	WDR11_HUMAN	C	121	ENSP00000263461:W121C	ENSP00000263461:W121C	W	+	3	0	WDR11	122609621	1.000000	0.71417	0.990000	0.47175	0.345000	0.29048	9.686000	0.98664	1.456000	0.47831	-0.229000	0.12294	TGG		0.428	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			32	87	0	0	0	1	0	32	87					C	122619631	G	C	122619631	3	2	75	1	0	0	0	0	1	0	0	0	17270	1270	44	5	377	5	WDR11	10	122619631	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08	23810810	122619631	12915116	17	1436										
SPTBN2	6712	broad.mit.edu	37	chr11	66457285	66457285	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctcacccacctcctcggcCgcatagtggctcctggccag	10	19	1	0			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr11:66457285C>A	ENST00000533211.1	-	29	6271	c.5940G>T	c.(5938-5940)gcG>gcT	p.A1980A	SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCCTCGGCCGCATAGTGGC	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5938-5940)gcG>gcT		spectrin, beta, non-erythrocytic 2							90	99	96					11																	66457285		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457285C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5940G>T	11.37:g.66457285C>A						SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A	p.A1980A			O15020	SPTN2_HUMAN			29	6271	-			1980					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.5940G>T	CCDS8150.1																																																																																				0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		53	1	1	0	4.88482e-21	1	5.65611e-21	53	1					A	66457285	C	A	66457285	2	1	75	1	0	0	0	0	0	0	0	1	15119	639	23	5		5	SPTBN2	11	66457285	Silent	SNP	C	TCGA-RW-A681-01A-11D-A35D-08		66457285	68549231	18	1437										
TAS2R8	50836	broad.mit.edu	37	chr12	10959260	10959260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactggctatcttcagaaaaTagaagacattaaggcaggtg	10	6	2	3			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:10959260T>C	ENST00000240615.2	-	1	632	c.320A>G	c.(319-321)tAt>tGt	p.Y107C		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTTCAGAAAATAGAAGACATT	0.383																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(319-321)tAt>tGt		taste receptor, type 2, member 8							81	81	81					12																	10959260		2203	4300	6503	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959260T>C	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.320A>G	12.37:g.10959260T>C	ENSP00000240615:p.Tyr107Cys						p.Y107C	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	632	-			107					Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.320A>G	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.307867	0.23821	.	.	ENSG00000121314	ENST00000240615	T	0.37058	1.22	4.87	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000073	T	0.56848	0.2013	M	0.88906	2.99	0.24609	N	0.993733	D	0.56287	0.975	P	0.60415	0.874	T	0.53718	-0.8399	10	0.62326	D	0.03	.	6.3173	0.21199	0.0:0.1995:0.0:0.8005	.	107	Q9NYW2	TA2R8_HUMAN	C	107	ENSP00000240615:Y107C	ENSP00000240615:Y107C	Y	-	2	0	TAS2R8	10850527	0.941000	0.31946	0.164000	0.22755	0.061000	0.15899	0.959000	0.29240	0.707000	0.31934	0.460000	0.39030	TAT		0.383	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			37	35	0	0	0	1	0	37	35					C	10959260	T	C	10959260	3	2	75	1	0	0	0	0	1	0	0	0	15584	1406	49	4	612	4	TAS2R8	12	10959260	Missense_Mutation	SNP	T	TCGA-RW-A681-01A-11D-A35D-08		10959260	122892635	19	1438										
CCDC64	92558	broad.mit.edu	37	chr12	120510313	120510313	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atagtaattctctgtggaacAgctgagactgcagctctggg	12	8	2	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr12:120510313A>G	ENST00000397558.2	+	6	1089		c.e6-1		CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Splice_Site	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64						Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGTGGAACAGCTGAGACTG	0.502																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.e6-1		coiled-coil domain containing 64							69	68	68					12																	120510313		2000	4172	6172	SO:0001630	splice_region_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120510313A>G	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1090-1A>G	12.37:g.120510313A>G						CCDC64_ENST00000257583.4_Splice_Site|CCDC64_ENST00000446727.2_Intron		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			6	1089	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A8MUC8|B4DWL0|B5MDJ0|O95000	Splice_Site	SNP	ENST00000397558.2	37		CCDS41845.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159803	0.78226	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000548673;ENST00000257583	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6514	0.77099	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC64	118994696	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.540000	0.90641	2.115000	0.64714	0.533000	0.62120	.		0.502	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	Intron	25	58	0	0	0	1	0	25	58					G	120510313	A	G	120510313	5	3	75	1	0	0	0	0	0	0	1	0	2835	202	7	4	1110	4	CCDC64	12	120510313	Splice_Site	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	109551053	120510313	13341582	20	1439										
POMT2	29954	broad.mit.edu	37	chr14	77751945	77751945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgtttacgacctcaatccGccagaaatcatttgagtccc	6	14	2	2	rs398124261		TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr14:77751945G>A	ENST00000261534.4	-	13	1565	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	455	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACCTCAATCCGCCAGAAATCA	0.443																																						ENST00000261534.4																			0				breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1363-1365)Cgg>Tgg		protein-O-mannosyltransferase 2							295	334	321					14																	77751945		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751945G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1363C>T	14.37:g.77751945G>A	ENSP00000261534:p.Arg455Trp						p.R455W	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1565	-			455			MIR 2.		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.1363C>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799912	0.70567	.	.	ENSG00000009830	ENST00000261534	D	0.88124	-2.34	5.55	-1.58	0.08479	MIR motif (2);MIR (2);	0.124248	0.56097	D	0.000036	D	0.93278	0.7858	M	0.87038	2.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.72625	0.978	D	0.92884	0.6325	10	0.46703	T	0.11	-19.4424	18.6161	0.91303	0.0:0.0:0.2937:0.7063	.	455	Q9UKY4	POMT2_HUMAN	W	455	ENSP00000261534:R455W	ENSP00000261534:R455W	R	-	1	2	POMT2	76821698	0.991000	0.36638	0.993000	0.49108	0.910000	0.53928	0.145000	0.16157	-0.147000	0.11254	-1.014000	0.02459	CGG		0.443	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		5	563	0	0	0	1	0	5	563					A	77751945	G	A	77751945	3	1	75	1	0	0	0	0	1	0	0	0	12246	1086	38	1	925	1	POMT2	14	77751945	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		77751945	29597595	21	1440										
TAOK2	9344	broad.mit.edu	37	chr16	29989145	29989146	+	Frame_Shift_Del	DEL	CT	CT	-													0	0	1	0	0	0	1	1	0	aggacccagatgtggctgagCtcttcttcaaggatgaccca							TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:29989145_29989146delCT	ENST00000308893.4	+	2	1095_1096	c.52_53delCT	c.(52-54)ctcfs	p.L18fs	TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L18fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	18					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGGCTGAGCTCTTCTTCAAG	0.609																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(52-54)cfs		TAO kinase 2																																				SO:0001589	frameshift_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989145_29989146delCT	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.52_53delCT	16.37:g.29989147_29989148delCT	ENSP00000310094:p.Leu18fs					TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L18fs	p.L18fs	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			2	1095_1096	+			18					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Frame_Shift_Del	DEL	ENST00000308893.4	37	c.52_53delCT	CCDS10663.1																																																																																				0.609	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		44	38						44	38	---	---	---	---	-	29989146	CT	-	29989145	7	5	75	1	0	1	0	1	0	0	0	0	15545	797	28	0	54	0	TAOK2	16	29989145	Frame_Shift_Del	DEL	CT	TCGA-RW-A681-01A-11D-A35D-08		29989145	60365608	22	1441										
TERF2	7014	broad.mit.edu	37	chr16	69404385	69404385	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggagaagggccaaggcgcaCcgtgaggaggtagggctcgg	21	8	0	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr16:69404385C>T	ENST00000254942.3	-	5	857		c.e5+1		TERF2_ENST00000603068.1_Splice_Site|TERF2_ENST00000569611.2_Splice_Site|TERF2_ENST00000567296.2_Missense_Mutation_p.V281M	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2						age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCAAGGCGCACCGTGAGGAGG	0.512																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000567296.2																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(841-843)Gtg>Atg		telomeric repeat binding factor 2							84	70	75					16																	69404385		2198	4300	6498	SO:0001630	splice_region_variant	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69404385C>T		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.840+1G>A	16.37:g.69404385C>T						TERF2_ENST00000254942.3_Splice_Site|TERF2_ENST00000569611.2_Splice_Site|TERF2_ENST00000603068.1_Splice_Site	p.V281M			Q15554	TERF2_HUMAN			5	857	-		Ovarian(137;0.101)	239						Missense_Mutation	SNP	ENST00000254942.3	37	c.841G>A		.	.	.	.	.	.	.	.	.	.	C	17.63	3.438291	0.62955	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.25361	N	0.988789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.553	0.68081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TERF2	67961886	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.369000	0.59511	2.488000	0.83962	0.650000	0.86243	.		0.512	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2		Intron	3	53	0	0	0	1	0	3	53					T	69404385	C	T	69404385	5	4	75	1	0	0	0	0	0	0	1	0	15759	521	18	3	811	3	TERF2	16	69404385	Splice_Site	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	39415240	69404385	20950368	23	1442										
KRT35	3886	broad.mit.edu	37	chr17	39637289	39637289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgagtggagcccccactggCccctcctgggctcttgagag	13	15	1	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:39637289C>A	ENST00000393989.1	-	1	103	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	KRT35_ENST00000246639.2_5'UTR	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	21	Head.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCCCACTGGCCCCTCCTGGG	0.577																																						ENST00000393989.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(61-63)Gcc>Tcc		keratin 35							46	53	51					17																	39637289		1889	4124	6013	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637289C>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.61G>T	17.37:g.39637289C>A	ENSP00000377558:p.Ala21Ser					KRT35_ENST00000246639.2_5'UTR	p.A21S	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN			1	103	-		Breast(137;0.000286)	21			Head.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.61G>T	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	3.329	-0.137146	0.06711	.	.	ENSG00000197079	ENST00000393989	T	0.80653	-1.4	5.04	0.814	0.18756	.	.	.	.	.	T	0.65533	0.2700	L	0.34521	1.04	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.46247	-0.9205	9	0.16896	T	0.51	.	5.3146	0.15849	0.0:0.4887:0.2743:0.237	.	21	Q92764	KRT35_HUMAN	S	21	ENSP00000377558:A21S	ENSP00000377558:A21S	A	-	1	0	KRT35	36890815	0.001000	0.12720	0.003000	0.11579	0.698000	0.40448	-0.303000	0.08210	0.042000	0.15717	0.563000	0.77884	GCC		0.577	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		13	43	1	0	0.00185496	1	0.0018981	13	43					A	39637289	C	A	39637289	3	1	75	1	0	0	0	0	1	0	0	0	8472	739	26	5	1334	5	KRT35	17	39637289	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08		39637289	41557921	24	1443										
KIF2B	84643	broad.mit.edu	37	chr17	51901892	51901892	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattcagagccagcaaactcAcactggtgctccgggactcc	9	15	2	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:51901892A>C	ENST00000268919.4	+	1	1654	c.1498A>C	c.(1498-1500)Aca>Cca	p.T500P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	500	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			T -> A (in Ref. 1; AAK20830). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCAAACTCACACTGGTGCT	0.502																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1498-1500)Aca>Cca		kinesin family member 2B							51	49	50					17																	51901892		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901892A>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1498A>C	17.37:g.51901892A>C	ENSP00000268919:p.Thr500Pro						p.T500P	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1654	+			500	T -> A (in Ref. 1; AAK20830).				Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1498A>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126060	0.77436	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.50548	0.74	5.73	5.73	0.89815	Kinesin, motor domain (4);	0.000000	0.46145	D	0.000305	D	0.83547	0.5278	H	0.99922	4.955	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	D	0.90748	0.4655	10	0.87932	D	0	.	13.6903	0.62542	1.0:0.0:0.0:0.0	.	500	Q8N4N8	KIF2B_HUMAN	P	500;388	ENSP00000268919:T500P	ENSP00000268919:T500P	T	+	1	0	KIF2B	49256891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.257000	0.95545	2.302000	0.77476	0.533000	0.62120	ACA		0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		21	18	0	0	0	1	0	21	18					C	51901892	A	C	51901892	3	2	75	1	0	0	0	0	1	0	0	0	8298	159	6	5	1500	5	KIF2B	17	51901892	Missense_Mutation	SNP	A	TCGA-RW-A681-01A-11D-A35D-08	12264603	51901892	29293318	25	1444										
UNC13D	201294	broad.mit.edu	37	chr17	73825012	73825012	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcgtgtcgtagtccagcaCggtgagcaggaggcatgccc	15	12	0	1	rs200462004	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:73825012C>A	ENST00000207549.4	-	31	3386	c.3007G>T	c.(3007-3009)Gtg>Ttg	p.V1003L	UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1003	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTCCAGCACGGTGAGCAGG	0.706									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3007-3009)Gtg>Ttg		unc-13 homolog D (C. elegans)							26	28	27					17																	73825012		2199	4297	6496	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73825012C>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.3007G>T	17.37:g.73825012C>A	ENSP00000207549:p.Val1003Leu					UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L	p.V1003L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	3386	-			1003			C2 2.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.3007G>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	36	5.893041	0.97074	.	.	ENSG00000092929	ENST00000207549;ENST00000412096	D;D	0.86366	-2.11;-2.11	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	D	0.92811	0.7714	M	0.73217	2.22	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	D	0.92372	0.5906	10	0.56958	D	0.05	-12.6532	20.0887	0.97806	0.0:1.0:0.0:0.0	.	1003	Q70J99	UN13D_HUMAN	L	1003	ENSP00000207549:V1003L;ENSP00000388093:V1003L	ENSP00000207549:V1003L	V	-	1	0	UNC13D	71336607	1.000000	0.71417	0.975000	0.42487	0.911000	0.54048	7.389000	0.79806	2.825000	0.97269	0.655000	0.94253	GTG		0.706	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		11	14	1	0	0.000978159	1	0.00102474	11	14					A	73825012	C	A	73825012	3	1	75	1	0	0	0	0	1	0	0	0	16984	536	19	5	273	5	UNC13D	17	73825012	Missense_Mutation	SNP	C	TCGA-RW-A681-01A-11D-A35D-08	21923120	73825012	7370198	26	1445										
USP36	57602	broad.mit.edu	37	chr17	76831368	76831368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	aaacccacactcacagctgcGagcatgctccttggagagca	9	14	1	1	rs151065333	byFrequency	TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr17:76831368G>A	ENST00000542802.3	-	4	912	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	USP36_ENST00000589424.1_Missense_Mutation_p.R157C|USP36_ENST00000312010.6_Missense_Mutation_p.R157C|USP36_ENST00000590546.2_Missense_Mutation_p.R157C			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	157	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCACAGCTGCGAGCATGCTCC	0.552													G|||	5	0.000998403	0.003	0.0014	5008	,	,		14001	0		0	False		,,,				2504	0					ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(469-471)Cgc>Tgc		ubiquitin specific peptidase 36		G	CYS/ARG	16,4390	23.3+/-48.9	0,16,2187	141	93	109		469	2.1	0	17	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USP36	NM_025090.3	180	0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307	probably-damaging	157/1124	76831368	17,12989	2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831368G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.469C>T	17.37:g.76831368G>A	ENSP00000441214:p.Arg157Cys					USP36_ENST00000542802.2_Missense_Mutation_p.R157C|USP36_ENST00000589424.1_Missense_Mutation_p.R157C|USP36_ENST00000590546.2_Missense_Mutation_p.R157C	p.R157C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	793	-			157					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.469C>T	CCDS32755.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	21.9	4.214665	0.79352	0.003631	1.16E-4	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.32753	1.44;1.44	5.31	2.1	0.27182	.	0.222920	0.46442	D	0.000291	T	0.45438	0.1342	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.64877	0.93;0.921	T	0.32161	-0.9917	10	0.87932	D	0	-12.0043	8.2951	0.31980	0.0749:0.0:0.6484:0.2767	.	157;157	Q8IXW9;Q9P275-2	.;.	C	157	ENSP00000310590:R157C;ENSP00000441214:R157C	ENSP00000310590:R157C	R	-	1	0	USP36	74342963	1.000000	0.71417	0.001000	0.08648	0.479000	0.33129	4.360000	0.59455	0.190000	0.20209	-0.291000	0.09656	CGC		0.552	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		4	36	0	0	0	1	0	4	36					A	76831368	G	A	76831368	3	1	75	1	0	0	0	0	1	0	0	0	17064	1058	37	2	2970	2	USP36	17	76831368	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08	3006356	76831368	4363842	27	1446										
CLEC4M	10332	broad.mit.edu	37	chr19	7831056	7831056	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaccagtccaagcagcagcaAatctatcaagaactgaccga	8	12	2	2			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chr19:7831056A>G	ENST00000327325.5	+	4	865	c.747A>G	c.(745-747)caA>caG	p.Q249Q	CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000248228.4_Silent_p.Q227Q|CLEC4M_ENST00000596363.1_Silent_p.Q221Q|CLEC4M_ENST00000595496.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	249	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCAGCAGCAAATCTATCAAG	0.512																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(745-747)caA>caG		C-type lectin domain family 4, member M							146	149	148					19																	7831056		2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831056A>G	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	13523	protein-coding gene	gene with protein product		605872	"CD299 antigen"	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.747A>G	19.37:g.7831056A>G						CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Silent_p.Q221Q|CLEC4M_ENST00000248228.4_Silent_p.Q227Q	p.Q249Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			4	865	+			249			7 X approximate tandem repeats.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.747A>G	CCDS12187.1																																																																																				0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		62	46	0	0	0	1	0	62	46					G	7831056	A	G	7831056	2	3	75	1	0	0	0	0	0	0	0	1	3518	11	1	4		4	CLEC4M	19	7831056	Silent	SNP	A	TCGA-RW-A681-01A-11D-A35D-08		7831056	51297927	28	1447										
FAM123B	139285	broad.mit.edu	37	chrX	63412784	63412784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgggcactctgagagctgGgaaattggcagggtaactca	14	8	2	1			TCGA-RW-A681-01A-11D-A35D-08	TCGA-RW-A681-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cecab91-4ebe-445b-a47f-90e9e970f7fb	b93b415b-3112-47cc-bd50-43798db2a87e	g.chrX:63412784G>A	ENST00000330258.3	-	2	655	c.383C>T	c.(382-384)cCc>cTc	p.P128L	AMER1_ENST00000374869.3_Missense_Mutation_p.P128L|AMER1_ENST00000403336.1_Missense_Mutation_p.P128L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	128					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTGAGAGCTGGGAAATTGGCA	0.552																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(382-384)cCc>cTc		APC membrane recruitment protein 1							65	56	59					X																	63412784		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63412784G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.383C>T	X.37:g.63412784G>A	ENSP00000329117:p.Pro128Leu					AMER1_ENST00000374869.3_Missense_Mutation_p.P128L|AMER1_ENST00000403336.1_Missense_Mutation_p.P128L	p.P128L	NM_152424.3	NP_689637.3					2	655	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.383C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002917	0.19121	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.15487	2.42;2.42;2.42	4.59	4.59	0.56863	.	0.370184	0.28796	N	0.014120	T	0.15262	0.0368	L	0.29908	0.895	0.40711	D	0.982572	B	0.26935	0.164	B	0.28553	0.091	T	0.06679	-1.0813	10	0.44086	T	0.13	-4.0461	15.8344	0.78787	0.0:0.0:1.0:0.0	.	128	Q5JTC6	F123B_HUMAN	L	128	ENSP00000364003:P128L;ENSP00000329117:P128L;ENSP00000384722:P128L	ENSP00000329117:P128L	P	-	2	0	FAM123B	63329509	1.000000	0.71417	0.586000	0.28679	0.720000	0.41350	3.134000	0.50538	2.527000	0.85204	0.600000	0.82982	CCC		0.552	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		19	16	0	0	0	1	0	19	16					A	63412784	G	A	63412784	3	1	75	1	0	0	0	0	1	0	0	0	5423	1232	43	3	3028	3	FAM123B	23	63412784	Missense_Mutation	SNP	G	TCGA-RW-A681-01A-11D-A35D-08		63412784	91857776	29	1448										
ZMYM1	79830	broad.mit.edu	37	chr1	35579445	35579445	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	acccacaaaaatcatcaaagGctatcttaattaaggaaaga	5	8	3	1	rs371499968		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr1:35579445G>C	ENST00000373330.1	+	11	2188	c.2014G>C	c.(2014-2016)Gct>Cct	p.A672P	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	672						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCATCAAAGGCTATCTTAAT	0.368																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2014-2016)Gct>Cct		zinc finger, MYM-type 1							73	68	69					1																	35579445		1852	4085	5937	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579445G>C	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2014G>C	1.37:g.35579445G>C	ENSP00000362427:p.Ala672Pro					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.A672P	p.A672P			Q5SVZ6	ZMYM1_HUMAN			11	2188	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	672					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2014G>C	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116180	0.20795	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23348	1.91;1.91;1.91	4.64	1.65	0.23941	Ribonuclease H-like (1);	0.398666	0.21772	N	0.069345	T	0.30386	0.0763	L	0.33668	1.02	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.62298	0.9;0.9	T	0.06006	-1.0851	9	.	.	.	-4.6797	7.6192	0.28175	0.306:0.0:0.694:0.0	.	653;672	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	P	672;597;672	ENSP00000352920:A672P;ENSP00000362426:A597P;ENSP00000362427:A672P	.	A	+	1	0	ZMYM1	35352032	0.005000	0.15991	0.065000	0.19835	0.002000	0.02628	-0.033000	0.12246	0.389000	0.25086	0.655000	0.94253	GCT		0.368	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		6	25	0	0	0	1	0	6	25					C	35579445	G	C	35579445	3	2	76	1	0	0	0	0	1	0	0	0	17696	1203	42	5	2048	5	ZMYM1	1	35579445	Missense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		35579445	213671176	1	1449										
SPTA1	6708	broad.mit.edu	37	chr1	158582669	158582669	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	cagggcttggaaggcattctCtatttcatcactggacttga	10	9	3	1			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr1:158582669C>T	ENST00000368147.4	-	51	7252	c.7072G>A	c.(7072-7074)Gag>Aag	p.E2358K	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2358	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGGCATTCTCTATTTCATCA	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(7072-7074)Gag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							121	118	119					1																	158582669		1944	4149	6093	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158582669C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7072G>A	1.37:g.158582669C>T	ENSP00000357129:p.Glu2358Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E2355K	p.E2358K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			51	7252	-	all_hematologic(112;0.0378)		2358			EF-hand 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.7072G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778270	0.90195	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.21031	2.03;2.03	5.39	5.39	0.77823	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.32563	N	0.005934	T	0.32194	0.0821	L	0.45285	1.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.02053	-1.1222	10	0.66056	D	0.02	.	17.8981	0.88895	0.0:1.0:0.0:0.0	.	2358	P02549	SPTA1_HUMAN	K	2358;2355	ENSP00000357130:E2358K;ENSP00000357129:E2355K	ENSP00000357129:E2355K	E	-	1	0	SPTA1	156849293	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.962000	0.76048	2.795000	0.96236	0.655000	0.94253	GAG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	30	0	0	0	1	0	12	30					T	158582669	C	T	158582669	3	4	76	1	0	0	0	0	1	0	0	0	15115	922	32	3	195	3	SPTA1	1	158582669	Missense_Mutation	SNP	C	TCGA-RW-A684-01A-12D-A35D-08	123003224	158582669	90667952	2	1450										
XDH	7498	broad.mit.edu	37	chr2	31573040	31573040	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	gccgcccagtgccccggatgTtggggattttatagcagttg	14	10	0	0			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:31573040T>C	ENST00000379416.3	-	25	2729	c.2681A>G	c.(2680-2682)aAc>aGc	p.N894S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	894					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCCCCGGATGTTGGGGATTTT	0.537																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(2680-2682)aAc>aGc		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						87	95	92					2																	31573040		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31573040T>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2681A>G	2.37:g.31573040T>C	ENSP00000368727:p.Asn894Ser						p.N894S	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			25	2729	-	Acute lymphoblastic leukemia(172;0.155)		894					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2681A>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177855	0.57692	.	.	ENSG00000158125	ENST00000379416	T	0.51574	0.7	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.79258	2.445	0.80722	D	1	D	0.60160	0.987	D	0.63033	0.91	T	0.72020	-0.4416	10	0.66056	D	0.02	.	15.8979	0.79350	0.0:0.0:0.0:1.0	.	894	P47989	XDH_HUMAN	S	894	ENSP00000368727:N894S	ENSP00000368727:N894S	N	-	2	0	XDH	31426544	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	6.254000	0.72460	2.230000	0.72887	0.528000	0.53228	AAC		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		14	58	0	0	0	1	0	14	58					C	31573040	T	C	31573040	3	2	76	1	0	0	0	0	1	0	0	0	17423	1725	60	4	1368	4	XDH	2	31573040	Missense_Mutation	SNP	T	TCGA-RW-A684-01A-12D-A35D-08		31573040	211626333	3	1451										
REV1	51455	broad.mit.edu	37	chr2	100065882	100065882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	gaagatttgtggcaataataTgtgttgttttagatctggaa	11	2	1	2			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr2:100065882T>C	ENST00000258428.3	-	4	494	c.266A>G	c.(265-267)cAt>cGt	p.H89R	REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	89	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAATAATATGTGTTGTTTT	0.323								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(265-267)cAt>cGt	Direct reversal of damage	REV1, polymerase (DNA directed)							110	115	113					2																	100065882		2202	4298	6500	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100065882T>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.266A>G	2.37:g.100065882T>C	ENSP00000258428:p.His89Arg					REV1_ENST00000393445.3_Missense_Mutation_p.H89R|REV1_ENST00000465835.1_5'UTR	p.H89R	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			4	494	-			89			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.266A>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677799	0.88445	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.23950	1.88;1.88	6.06	6.06	0.98353	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.999	T	0.75116	-0.3431	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	68;89;89	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	R	89	ENSP00000377091:H89R;ENSP00000258428:H89R	ENSP00000258428:H89R	H	-	2	0	REV1	99432314	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.665000	0.83852	2.323000	0.78572	0.528000	0.53228	CAT		0.323	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		4	78	0	0	0	1	0	4	78					C	100065882	T	C	100065882	3	2	76	1	0	0	0	0	1	0	0	0	13239	1464	51	4	3569	4	REV1	2	100065882	Missense_Mutation	SNP	T	TCGA-RW-A684-01A-12D-A35D-08	68492842	100065882	143133491	4	1452										
SCN10A	6336	broad.mit.edu	37	chr3	38781061	38781061	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	tcttggccacgcccagctctAgcagactcacagtgacgatg	10	14	3	2			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr3:38781061A>G	ENST00000449082.2	-	14	2224	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	742					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCCAGCTCTAGCAGACTCAC	0.478																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2224-2226)cTa>cCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						69	63	65					3																	38781061		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38781061A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2225T>C	3.37:g.38781061A>G	ENSP00000390600:p.Leu742Pro						p.L742P	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	14	2224	-			742					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2225T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379384	0.61845	.	.	ENSG00000185313	ENST00000449082	D	0.98849	-5.18	4.19	4.19	0.49359	Ion transport (1);	0.346611	0.30752	N	0.008953	D	0.98698	0.9563	M	0.83118	2.625	0.80722	D	1	P	0.49961	0.93	P	0.54629	0.757	D	0.99308	1.0903	10	0.87932	D	0	.	13.4132	0.60954	1.0:0.0:0.0:0.0	.	742	Q9Y5Y9	SCNAA_HUMAN	P	742	ENSP00000390600:L742P	ENSP00000390600:L742P	L	-	2	0	SCN10A	38756065	0.935000	0.31712	0.977000	0.42913	0.972000	0.66771	7.239000	0.78182	1.765000	0.52091	0.533000	0.62120	CTA		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	25	0	0	0	1	0	17	25					G	38781061	A	G	38781061	3	3	76	1	0	0	0	0	1	0	0	0	13912	420	15	4	3701	4	SCN10A	3	38781061	Missense_Mutation	SNP	A	TCGA-RW-A684-01A-12D-A35D-08		38781061	159241369	5	1453										
UGT2B4	7363	broad.mit.edu	37	chr4	70346370	70346370	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	aattaatctcttttccccttCtttcctgttctaacaaactt	1	12	3	0			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr4:70346370C>T	ENST00000305107.6	-	6	1615	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.K387K|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	523					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTTTCCCCTTCTTTCCTGTTC	0.408																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1567-1569)aaG>aaA		UDP glucuronosyltransferase 2 family, polypeptide B4							145	145	145					4																	70346370		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346370C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1569G>A	4.37:g.70346370C>T						UGT2B4_ENST00000381096.3_Silent_p.K387K|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	p.K523K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			6	1615	-			523					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1569G>A	CCDS43234.1																																																																																				0.408	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		18	83	0	0	0	1	0	18	83					T	70346370	C	T	70346370	2	4	76	1	0	0	0	0	0	0	0	1	16958	912	32	3		3	UGT2B4	4	70346370	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		70346370	120807906	6	1454										
ADH4	127	broad.mit.edu	37	chr4	100047875	100047875	+	Frame_Shift_Del	DEL	T	T	-													0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ctttgggatagaatctacacTtttccaacctgtaatgtgga							TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr4:100047875delT	ENST00000265512.7	-	8	1062	c.988delA	c.(988-990)agtfs	p.S330fs	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	330					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GAATCTACACTTTTCCAACCT	0.373																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1045-1047)gtfs		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						89	88	88					4																	100047875		2203	4300	6503	SO:0001589	frameshift_variant	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100047875delT	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.988delA	4.37:g.100047875delT	ENSP00000265512:p.Ser330fs					ADH4_ENST00000505590.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000423445.1_Frame_Shift_Del_p.S349fs|ADH4_ENST00000265512.7_Frame_Shift_Del_p.S330fs|RP11-696N14.1_ENST00000500358.2_RNA	p.S349fs			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	9	1210	-			330					A8K470|B4DIE7|C9J4A9|Q8TCD7	Frame_Shift_Del	DEL	ENST00000265512.7	37	c.1045delA	CCDS34032.1																																																																																				0.373	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		22	52						22	52	---	---	---	---	-	100047875	T	-	100047875	7	5	76	1	0	1	0	1	0	0	0	0	310	1609	56	0	162	0	ADH4	4	100047875	Frame_Shift_Del	DEL	T	TCGA-RW-A684-01A-12D-A35D-08	29701505	100047875	91106401	7	1455										
GPR98	84059	broad.mit.edu	37	chr5	90074890	90074890	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	agaggaattttctctaacaaTtacaaaggtggaactccagg	9	7	1	1			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:90074890T>G	ENST00000405460.2	+	64	13154	c.13058T>G	c.(13057-13059)aTt>aGt	p.I4353S	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTCTAACAATTACAAAGGTG	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13057-13059)aTt>aGt		G protein-coupled receptor 98							31	30	30					5																	90074890		1831	4095	5926	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074890T>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13058T>G	5.37:g.90074890T>G	ENSP00000384582:p.Ile4353Ser						p.I4353S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13154	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4353			Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13058T>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087527	0.76642	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.38722	1.12	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.187549	0.56097	D	0.000038	T	0.54951	0.1890	M	0.87971	2.92	0.80722	D	1	P	0.36354	0.549	B	0.38985	0.287	T	0.63233	-0.6683	10	0.87932	D	0	.	16.1508	0.81622	0.0:0.0:0.0:1.0	.	4353	Q8WXG9	GPR98_HUMAN	S	4353	ENSP00000384582:I4353S	ENSP00000296619:I4353S	I	+	2	0	GPR98	90110646	1.000000	0.71417	0.223000	0.23860	0.739000	0.42172	7.230000	0.78097	2.207000	0.71202	0.528000	0.53228	ATT		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	20	0	0	0	1	0	3	20					G	90074890	T	G	90074890	3	3	76	1	0	0	0	0	1	0	0	0	6721	1493	52	5	13312	5	GPR98	5	90074890	Missense_Mutation	SNP	T	TCGA-RW-A684-01A-12D-A35D-08		90074890	90840370	8	1456										
DOCK2	1794	broad.mit.edu	37	chr5	169454924	169454924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	tagaagggggccgaggcgacGagcagtacatgcagctcctg	16	10	0	1	rs577269066		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:169454924G>T	ENST00000256935.8	+	34	3519	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*	DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E639*|MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1147	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGAGGCGACGAGCAGTACAT	0.517																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3439-3441)Gag>Tag		dedicator of cytokinesis 2							114	104	108					5																	169454924		2203	4300	6503	SO:0001587	stop_gained	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169454924G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3439G>T	5.37:g.169454924G>T	ENSP00000256935:p.Glu1147*					DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E639*|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E208*	p.E1147*	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3519	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1147			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Nonsense_Mutation	SNP	ENST00000256935.8	37	c.3439G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	50	16.276412	0.99859	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	.	.	.	5.24	5.24	0.73138	.	0.119767	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	13.7634	0.62979	0.0:0.0:0.8465:0.1535	.	.	.	.	X	1147;639;208	.	ENSP00000256935:E1147X	E	+	1	0	DOCK2	169387502	1.000000	0.71417	0.950000	0.38849	0.768000	0.43524	5.159000	0.64923	2.455000	0.83008	0.555000	0.69702	GAG		0.517	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	94	1	0	0.217242	1	0.217242	5	94					T	169454924	G	T	169454924	4	4	76	1	0	0	0	0	0	1	0	0	4687	1059	37	5	3573	5	DOCK2	5	169454924	Nonsense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08	79380034	169454924	11460336	9	1457										
MAML1	9794	broad.mit.edu	37	chr5	179193112	179193112	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ccaaacctgatgccggcatcAgcccaggcccagaacgcaca	9	17	1	2			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr5:179193112A>C	ENST00000292599.3	+	2	1364	c.1101A>C	c.(1099-1101)tcA>tcC	p.S367S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCGGCATCAGCCCAGGCCC	0.627																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1099-1101)tcA>tcC		mastermind-like 1 (Drosophila)							43	44	44					5																	179193112		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193112A>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1101A>C	5.37:g.179193112A>C						MAML1_ENST00000503050.1_3'UTR	p.S367S	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1364	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	367						Silent	SNP	ENST00000292599.3	37	c.1101A>C	CCDS34315.1																																																																																				0.627	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	44	0	0	0	1	0	5	44					C	179193112	A	C	179193112	2	2	76	1	0	0	0	0	0	0	0	1	9205	175	7	5		5	MAML1	5	179193112	Silent	SNP	A	TCGA-RW-A684-01A-12D-A35D-08	9738188	179193112	1722148	10	1458										
TNFAIP3	7128	broad.mit.edu	37	chr6	138201287	138201287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ccgtgcctggggagggaatgCggcacccttggaagcaccat	15	12	0	0			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with TNIP1. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"D, N, F"	"tumor necrosis factor, alpha-induced protein 3"			L			"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"		26	Whole gene deletion(25)|Complex - frameshift(1)	p.0?(25)|p.C662fs*36(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1984-1986)tgC>tgT		tumor necrosis factor, alpha-induced protein 3							98	89	92					6																	138201287		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138201287C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1986C>T	6.37:g.138201287C>T							p.C662C	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	8	2052	+	Breast(32;0.135)|Colorectal(23;0.24)		662			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1986C>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130355	0.21041	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	-6.69	0.01772	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75895	-0.3156	5	0.87932	D	0	-17.8663	16.8377	0.85961	0.0:0.595:0.0:0.405	.	.	.	.	W	662	.	ENSP00000442207:R662W	R	+	1	2	TNFAIP3	138242980	0.008000	0.16893	0.185000	0.23176	0.928000	0.56348	-1.071000	0.03437	-1.541000	0.01727	-0.302000	0.09304	CGG		0.502	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			3	36	0	0	0	1	0	3	36					T	138201287	C	T	138201287	2	4	76	1	0	0	0	0	0	0	0	1	16271	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		138201287	32913780	11	1459										
RBM33	155435	broad.mit.edu	37	chr7	155503998	155503998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ctgcttccggtgcagcacccGcaccacccatccccgcctca	7	22	1	0			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr7:155503998G>A	ENST00000401878.3	+	8	1248	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	350	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGCAGCACCCGCACCACCCAT	0.682																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1048-1050)ccG>ccA		RNA binding motif protein 33							43	53	50					7																	155503998		2062	4197	6259	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155503998G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1050G>A	7.37:g.155503998G>A						RBM33_ENST00000486747.1_3'UTR	p.P350P	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1248	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	350			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.1050G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	3.126	-0.179450	0.06380	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.1	-0.991	0.10235	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25572	-1.0128	4	.	.	.	.	1.3921	0.02253	0.3056:0.2323:0.3342:0.1279	.	.	.	.	H	122	.	.	R	+	2	0	RBM33	155196759	0.003000	0.15002	0.970000	0.41538	0.162000	0.22319	-1.502000	0.02279	-0.070000	0.12908	0.557000	0.71058	CGC		0.682	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		3	34	0	0	0	1	0	3	34					A	155503998	G	A	155503998	2	1	76	1	0	0	0	0	0	0	0	1	13130	1074	38	1		1	RBM33	7	155503998	Silent	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		155503998	3634665	12	1460										
FGFR1	2260	broad.mit.edu	37	chr8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	tgcgtgcaggcccccagcagGttgatgatattcttatgctt	11	10	1	2			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.N546K(4)	central_nervous_system(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1636-1638)aaC>aaA		fibroblast growth factor receptor 1	Palifermin(DB00039)						87	95	92					8																	38274849		2154	4289	6443	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38274849G>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1638C>A	8.37:g.38274849G>T	ENSP00000400162:p.Asn546Lys					FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K	p.N546K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		12	2579	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	546			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1638C>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406498	0.83230	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.57	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	N	0.04387	-0.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88572	0.3130	10	0.87932	D	0	.	9.3132	0.37919	0.2169:0.0:0.7831:0.0	.	455;455;546;536;544	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	544;577;546;546;546;544;544;457;536;455;457;544	ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K	ENSP00000311337:N546K	N	-	3	2	FGFR1	38394006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.491000	0.48482	0.655000	0.94253	AAC		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				28	37	1	0	8.4185e-14	1	9.62115e-14	28	37					T	38274849	G	T	38274849	3	4	76	1	0	0	0	0	1	0	0	0	5863	1252	44	5	858	5	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		38274849	108089173	13	1461										
TEK	7010	broad.mit.edu	37	chr9	27180335	27180335	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	caaggatgtctctgctctccAggatggcaggggctccagtg	14	11	2	0	rs111637971		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr9:27180335A>G	ENST00000380036.4	+	7	1441	c.999A>G	c.(997-999)ccA>ccG	p.P333P	TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	333	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGCTCTCCAGGATGGCAGG	0.507																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(997-999)ccA>ccG		TEK tyrosine kinase, endothelial							101	80	87					9																	27180335		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27180335A>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.999A>G	9.37:g.27180335A>G						TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	p.P333P	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	7	1441	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	333			EGF-like 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.999A>G	CCDS6519.1																																																																																				0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			9	17	0	0	0	1	0	9	17					G	27180335	A	G	27180335	2	3	76	1	0	0	0	0	0	0	0	1	15748	175	7	4		4	TEK	9	27180335	Silent	SNP	A	TCGA-RW-A684-01A-12D-A35D-08		27180335	114033096	14	1462										
TLE1	7088	broad.mit.edu	37	chr9	84228341	84228341	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ggaggcttgccgagacctggAcggaggcctggagtggcgct	19	10	0	1			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr9:84228341A>G	ENST00000376499.3	-	12	2078	c.1014T>C	c.(1012-1014)cgT>cgC	p.R338R	TLE1_ENST00000376472.1_Silent_p.R13R|TLE1_ENST00000376484.1_Silent_p.R13R|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	338	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGAGACCTGGACGGAGGCCTG	0.592																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1012-1014)cgT>cgC		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							92	91	91					9																	84228341		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84228341A>G		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1014T>C	9.37:g.84228341A>G						TLE1_ENST00000376472.1_Silent_p.R13R|TLE1_ENST00000376484.1_Silent_p.R13R|TLE1_ENST00000464999.1_5'UTR	p.R338R	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			12	2078	-			338			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1014T>C	CCDS6661.1																																																																																				0.592	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		3	45	0	0	0	1	0	3	45					G	84228341	A	G	84228341	2	3	76	1	0	0	0	0	0	0	0	1	15935	262	10	4		4	TLE1	9	84228341	Silent	SNP	A	TCGA-RW-A684-01A-12D-A35D-08	57048006	84228341	56985090	15	1463										
FRMD4A	55691	broad.mit.edu	37	chr10	13712496	13712496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ggttcctcccctggatccagGggatattctactggcagctt	11	12	1	0			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:13712496G>A	ENST00000357447.2	-	17	1652	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	FRMD4A_ENST00000378503.1_Silent_p.P428P|FRMD4A_ENST00000358621.4_Silent_p.P413P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	428					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTGGATCCAGGGGATATTCTA	0.517																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1282-1284)ccC>ccT		FERM domain containing 4A							143	138	140					10																	13712496		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13712496G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1284C>T	10.37:g.13712496G>A						FRMD4A_ENST00000358621.4_Silent_p.P413P|FRMD4A_ENST00000378503.1_Silent_p.P428P	p.P428P	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			17	1652	-			428					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1284C>T	CCDS7101.1																																																																																				0.517	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		19	39	0	0	0	1	0	19	39					A	13712496	G	A	13712496	2	1	76	1	0	0	0	0	0	0	0	1	6051	1219	43	3		3	FRMD4A	10	13712496	Silent	SNP	G	TCGA-RW-A684-01A-12D-A35D-08		13712496	121822251	16	1464										
KIAA1217	56243	broad.mit.edu	37	chr10	24669920	24669920	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	gagggggatgctccaaccccTttttccagaggcagccggac	13	13	0	1			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62	63	63					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	54	0	0	0	1	0	3	54					C	24669920	T	C	24669920	2	2	76	1	0	0	0	0	0	0	0	1	8216	1596	56	4		4	KIAA1217	10	24669920	Silent	SNP	T	TCGA-RW-A684-01A-12D-A35D-08	10957424	24669920	110864827	17	1465										
STOX1	219736	broad.mit.edu	37	chr10	70645882	70645882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	aaaacaaaaagtgattgagaGatctctgaccgagtacaaca	8	7	1	4	rs527340506		TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr10:70645882G>A	ENST00000298596.6	+	3	2413	c.2330G>A	c.(2329-2331)aGa>aAa	p.R777K	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399169.4_Missense_Mutation_p.R777K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	777						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGATTGAGAGATCTCTGACC	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		21695	0		0	False		,,,				2504	0					ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2329-2331)aGa>aAa		storkhead box 1							82	80	81					10																	70645882		1907	4127	6034	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645882G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2330G>A	10.37:g.70645882G>A	ENSP00000298596:p.Arg777Lys					STOX1_ENST00000399169.4_Missense_Mutation_p.R777K|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R667K|STOX1_ENST00000399162.2_Intron	p.R777K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2413	+			777					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2330G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	6.698	0.497460	0.12762	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.64618	-0.11;-0.11;-0.11	5.87	2.82	0.32997	.	0.698597	0.15066	N	0.282510	T	0.43500	0.1250	L	0.50333	1.59	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.36065	-0.9763	10	0.02654	T	1	.	1.4799	0.02434	0.274:0.2182:0.3857:0.1221	.	777	Q6ZVD7	STOX1_HUMAN	K	777;777;667	ENSP00000382121:R777K;ENSP00000298596:R777K;ENSP00000394509:R667K	ENSP00000298596:R777K	R	+	2	0	STOX1	70315888	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.204000	0.09425	0.921000	0.36994	-0.140000	0.14226	AGA		0.468	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		4	47	0	0	0	1	0	4	47					A	70645882	G	A	70645882	3	1	76	1	0	0	0	0	1	0	0	0	15318	942	33	3	2340	3	STOX1	10	70645882	Missense_Mutation	SNP	G	TCGA-RW-A684-01A-12D-A35D-08	45975962	70645882	64888865	18	1466										
ARHGEF17	9828	broad.mit.edu	37	chr11	73074835	73074835	+	Frame_Shift_Del	DEL	A	A	-													0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	acagcatccgtgaccgcaggAacagcatgaagctccagcat							TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr11:73074835delA	ENST00000263674.3	+	16	5640	c.5290delA	c.(5290-5292)aacfs	p.N1764fs		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1764					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGACCGCAGGAACAGCATGAA	0.602																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(5290-5292)acfs		Rho guanine nucleotide exchange factor (GEF) 17							144	120	128					11																	73074835		2200	4293	6493	SO:0001589	frameshift_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73074835delA	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5290delA	11.37:g.73074835delA	ENSP00000263674:p.Asn1764fs						p.N1764fs	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			16	5640	+			1764					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Frame_Shift_Del	DEL	ENST00000263674.3	37	c.5290delA	CCDS8221.1																																																																																				0.602	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		17	30						17	30	---	---	---	---	-	73074835	A	-	73074835	7	5	76	1	0	1	0	1	0	0	0	0	900	246	9	0	5352	0	ARHGEF17	11	73074835	Frame_Shift_Del	DEL	A	TCGA-RW-A684-01A-12D-A35D-08		73074835	61931681	19	1467										
PPFIA2	8499	broad.mit.edu	37	chr12	81741405	81741405	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ctggggggagatgaactggcCagcgatgaagctgtaacaga	16	7	0	4			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr12:81741405C>A	ENST00000549396.1	-	18	2299	c.2139G>T	c.(2137-2139)ctG>ctT	p.L713L	PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000333447.7_Silent_p.L695L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Silent_p.L713L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Silent_p.L713L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	713					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGAACTGGCCAGCGATGAAG	0.532																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2137-2139)ctG>ctT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							147	154	151					12																	81741405		2000	4154	6154	SO:0001819	synonymous_variant	8499							g.chr12:81741405C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2139G>T	12.37:g.81741405C>A						PPFIA2_ENST00000548586.1_Silent_p.L713L|PPFIA2_ENST00000541570.2_Silent_p.L280L|PPFIA2_ENST00000552948.1_Silent_p.L713L|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.L560L|PPFIA2_ENST00000443686.3_Silent_p.L614L|PPFIA2_ENST00000549325.1_Silent_p.L695L|PPFIA2_ENST00000549396.1_Silent_p.L713L|PPFIA2_ENST00000407050.4_Silent_p.L639L|PPFIA2_ENST00000333447.7_Silent_p.L695L	p.L713L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			17	2434	-			639					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2139G>T	CCDS55857.1																																																																																				0.532	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			8	102	1	0	0.00621372	1	0.00648388	8	102					A	81741405	C	A	81741405	2	1	76	1	0	0	0	0	0	0	0	1	12310	581	21	5		5	PPFIA2	12	81741405	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		81741405	52110490	20	1468										
EMILIN3	90187	broad.mit.edu	37	chr20	39990877	39990877	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ccccttgctccaccctctgtCccattgagcgtctccagacc	6	20	2	2			TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr20:39990877C>T	ENST00000332312.3	-	4	1524	c.1332G>A	c.(1330-1332)ggG>ggA	p.G444G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	444						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CACCCTCTGTCCCATTGAGCG	0.667																																						ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1330-1332)ggG>ggA		elastin microfibril interfacer 3							93	93	93					20																	39990877		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990877C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"EMI domain containing"	16123	protein-coding gene	gene with protein product	"chromosome 20 open reading frame 130"	608929	"elastin microfibril interfacer 5"	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1332G>A	20.37:g.39990877C>T							p.G444G	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1524	-		Myeloproliferative disorder(115;0.00425)	444					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1332G>A	CCDS13316.1																																																																																				0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		32	56	0	0	0	1	0	32	56					T	39990877	C	T	39990877	2	4	76	1	0	0	0	0	0	0	0	1	5095	842	30	3		3	EMILIN3	20	39990877	Silent	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		39990877	23034643	21	1469										
SMTN	6525	broad.mit.edu	37	chr22	31484930	31484930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	agaggacagcaaggggctagCggcacacaggctggaacagt	16	9	0	1	rs188312885	byFrequency	TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chr22:31484930C>A	ENST00000347557.2	+	6	664	c.446C>A	c.(445-447)gCg>gAg	p.A149E	SMTN_ENST00000358743.1_Missense_Mutation_p.A149E|SMTN_ENST00000333137.7_Missense_Mutation_p.A149E	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	149					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AAGGGGCTAGCGGCACACAGG	0.607											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(445-447)gCg>gAg		smoothelin							104	90	95					22																	31484930		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484930C>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.446C>A	22.37:g.31484930C>A	ENSP00000328635:p.Ala149Glu		OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	825	SMTN_ENST00000347557.2_Missense_Mutation_p.A149E|SMTN_ENST00000358743.1_Missense_Mutation_p.A149E	p.A149E	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			6	664	+			149					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.446C>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432241	0.25813	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	T;T;T	0.71698	-0.17;-0.58;-0.59	4.76	-0.0642	0.13773	.	0.206982	0.24436	N	0.038558	T	0.57902	0.2085	L	0.29908	0.895	0.09310	N	0.999995	P;P;B;P;P;P	0.47409	0.894;0.769;0.002;0.895;0.769;0.852	B;B;B;B;B;P	0.46452	0.319;0.218;0.002;0.409;0.319;0.517	T	0.53606	-0.8415	10	0.66056	D	0.02	-0.5588	6.4987	0.22155	0.0:0.657:0.1527:0.1903	.	205;203;141;149;149;149	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	E	149;149;149;149;141;61;141	ENSP00000351593:A149E;ENSP00000328635:A149E;ENSP00000329532:A149E	ENSP00000329393:A149E	A	+	2	0	SMTN	29814930	0.002000	0.14202	0.037000	0.18230	0.021000	0.10359	0.598000	0.24074	0.190000	0.20209	-1.149000	0.01842	GCG		0.607	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		3	27	1	0	6.4e-05	1	6.98182e-05	3	27					A	31484930	C	A	31484930	3	1	76	1	0	0	0	0	1	0	0	0	14814	768	27	5	464	5	SMTN	22	31484930	Missense_Mutation	SNP	C	TCGA-RW-A684-01A-12D-A35D-08		31484930	19819636	22	1470										
KDM6A	7403	broad.mit.edu	37	chrX	44732958	44732958	+	Splice_Site	DEL	G	G	-													0.130434782608696	3	1	3.4609375	0	3.95535714285714	0.1	1	0	ggcgctcggcggactggacaGgtacgggccgccgtcactcg							TCGA-RW-A684-01A-12D-A35D-08	TCGA-RW-A684-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	294d435e-dba0-4226-982b-48fc102ccf14	44eaf2f9-5b8b-48bc-b806-92df51bef7ef	g.chrX:44732958delG	ENST00000377967.4	+	1	202	c.161delG	c.(160-162)agc>ac	p.S54fs	KDM6A_ENST00000382899.4_Splice_Site_p.S54fs|KDM6A_ENST00000543216.1_Splice_Site_p.S54fs|KDM6A_ENST00000536777.1_Splice_Site_p.S54fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	54	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGACTGGACAGGTACGGGCCG	0.731			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		14	No detectable mRNA/protein(8)|Whole gene deletion(6)	p.0(8)|p.0?(6)	haematopoietic_and_lymphoid_tissue(6)|oesophagus(4)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e1+1		lysine (K)-specific demethylase 6A							3	5	4					X																	44732958		1871	3696	5567	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44732958delG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.161+1G>-	X.37:g.44732958delG						KDM6A_ENST00000536777.1_Splice_Site_p.S54_splice|KDM6A_ENST00000543216.1_Splice_Site_p.S54_splice|KDM6A_ENST00000382899.4_Splice_Site_p.S54_splice	p.S54_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			1	202	+			54					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.161_splice	CCDS14265.1																																																																																				0.731	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	44732958	G	-	44732958	8	5	76	1	0	1	0	1	0	0	1	0	8137	1014	35	0	163	0	KDM6A	23	44732958	Splice_Site	DEL	G	TCGA-RW-A684-01A-12D-A35D-08		44732958	110537602	23	1471										
ACADM	34	broad.mit.edu	37	chr1	76200505	76200505	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	attattattgctggaaatgaTcaacaaaagaagaagtattt	7	3	1	3			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:76200505T>A	ENST00000370841.4	+	6	854	c.417T>A	c.(415-417)gaT>gaA	p.D139E	ACADM_ENST00000420607.2_Missense_Mutation_p.D143E|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000370834.5_Missense_Mutation_p.D172E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	139					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	CTGGAAATGATCAACAAAAGA	0.333																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						c.(415-417)gaT>gaA		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							94	89	91					1																	76200505		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76200505T>A	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.417T>A	1.37:g.76200505T>A	ENSP00000359878:p.Asp139Glu					ACADM_ENST00000543667.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.D172E|ACADM_ENST00000541113.1_Missense_Mutation_p.D103E|ACADM_ENST00000420607.2_Missense_Mutation_p.D143E	p.D139E	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			6	854	+			139					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.417T>A	CCDS668.1	.	.	.	.	.	.	.	.	.	.	T	1.522	-0.546606	0.04024	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.63	-5.35	0.02697	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.416073	0.29745	N	0.011305	T	0.76997	0.4066	N	0.03881	-0.34	0.49915	D	0.999839	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.0;0.0;0.004;0.0;0.0	T	0.69146	-0.5222	10	0.02654	T	1	.	1.9594	0.03383	0.1552:0.2015:0.3643:0.2789	.	103;53;172;143;139	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	E	139;172;103;143	ENSP00000359878:D139E;ENSP00000359871:D172E;ENSP00000442324:D103E;ENSP00000409612:D143E	ENSP00000359871:D172E	D	+	3	2	ACADM	75973093	0.002000	0.14202	0.696000	0.30242	0.523000	0.34469	-1.080000	0.03407	-1.264000	0.02452	-1.255000	0.01485	GAT		0.333	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			3	16	0	0	0	1	0	3	16					A	76200505	T	A	76200505	3	1	77	1	0	0	0	0	1	0	0	0	113	1432	50	5	451	5	ACADM	1	76200505	Missense_Mutation	SNP	T	TCGA-RW-A685-01A-11D-A35D-08		76200505	173050116	1	1472										
RORC	6097	broad.mit.edu	37	chr1	151786011	151786011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	tctggcagagctccataaagCctgagagcctcttggcgaac	11	12	2	2			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr1:151786011C>T	ENST00000318247.6	-	7	1126	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.G394D|RORC_ENST00000356728.6_Missense_Mutation_p.G319D	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	340	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATAAAGCCTGAGAGCCT	0.602																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(955-957)gGc>gAc		RAR-related orphan receptor C							88	81	84					1																	151786011		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151786011C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"Nuclear hormone receptors"	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1019G>A	1.37:g.151786011C>T	ENSP00000327025:p.Gly340Asp					RORC_ENST00000318247.6_Missense_Mutation_p.G340D|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.G394D	p.G319D	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		6	1110	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		340			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.956G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110583	0.94292	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97209	-4.29;-4.29;-4.29	5.3	5.3	0.74995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	U	0.000003	D	0.98804	0.9597	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.99816	1.1044	10	0.87932	D	0	.	17.5195	0.87783	0.0:1.0:0.0:0.0	.	340;394;340;319	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	D	319;394;340	ENSP00000349164:G319D;ENSP00000376461:G394D;ENSP00000327025:G340D	ENSP00000327025:G340D	G	-	2	0	RORC	150052635	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.794000	0.85869	2.469000	0.83416	0.563000	0.77884	GGC		0.602	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			13	31	0	0	0	1	0	13	31					T	151786011	C	T	151786011	3	4	77	1	0	0	0	0	1	0	0	0	13530	739	26	3	557	3	RORC	1	151786011	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	75585506	151786011	97464610	2	1473										
FN1	2335	broad.mit.edu	37	chr2	216264046	216264046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	gtctcagtcacctcggtgttGtaaggtggaatagagctccc	12	10	2	1			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr2:216264046G>A	ENST00000359671.1	-	21	3547	c.3282C>T	c.(3280-3282)taC>taT	p.Y1094Y	FN1_ENST00000446046.1_Silent_p.Y1094Y|FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000354785.4_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y			P02751	FINC_HUMAN	fibronectin 1	1094	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTCGGTGTTGTAAGGTGGAA	0.428																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3280-3282)taC>taT		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						150	141	144					2																	216264046		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216264046G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3282C>T	2.37:g.216264046G>A						FN1_ENST00000346544.3_Silent_p.Y1094Y|FN1_ENST00000356005.4_Silent_p.Y1094Y|FN1_ENST00000345488.5_Silent_p.Y1094Y|FN1_ENST00000443816.1_Silent_p.Y1094Y|FN1_ENST00000432072.2_Silent_p.Y1094Y|FN1_ENST00000421182.1_Silent_p.Y1094Y|FN1_ENST00000357867.4_Silent_p.Y1094Y|FN1_ENST00000357009.2_Silent_p.Y1094Y|FN1_ENST00000336916.4_Silent_p.Y1094Y|FN1_ENST00000323926.6_Silent_p.Y1094Y|FN1_ENST00000359671.1_Silent_p.Y1094Y|FN1_ENST00000446046.1_Silent_p.Y1094Y	p.Y1094Y			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	21	3651	-		Renal(323;0.127)	1094			Fibronectin type-III 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.3282C>T																																																																																					0.428	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		25	47	0	0	0	1	0	25	47					A	216264046	G	A	216264046	2	1	77	1	0	0	0	0	0	0	0	1	5962	1372	48	3		3	FN1	2	216264046	Silent	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		216264046	26935327	3	1474										
APBB2	323	broad.mit.edu	37	chr4	41015773	41015773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	atgacactgtggctacttggCcgtcttcagggctggactgg	14	10	2	1			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr4:41015773C>T	ENST00000295974.8	-	6	1291	c.662G>A	c.(661-663)gGc>gAc	p.G221D	APBB2_ENST00000506352.1_Missense_Mutation_p.G221D|APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000508593.1_Missense_Mutation_p.G221D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	221					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCTACTTGGCCGTCTTCAGG	0.567																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(661-663)gGc>gAc		amyloid beta (A4) precursor protein-binding, family B, member 2							338	332	334					4																	41015773		2035	4187	6222	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41015773C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"Fe65-like"	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.662G>A	4.37:g.41015773C>T	ENSP00000295974:p.Gly221Asp					APBB2_ENST00000506352.1_Missense_Mutation_p.G221D|APBB2_ENST00000513140.1_Missense_Mutation_p.G221D|APBB2_ENST00000508593.1_Missense_Mutation_p.G221D	p.G221D	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			6	1291	-			221					B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.662G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912893	0.33815	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	6.04	6.04	0.98038	.	0.222150	0.48286	D	0.000191	T	0.22589	0.0545	N	0.08118	0	0.80722	D	1	D;P;P;P	0.57257	0.979;0.611;0.731;0.736	P;B;B;B	0.48552	0.581;0.118;0.234;0.118	T	0.04203	-1.0969	10	0.35671	T	0.21	-32.2724	20.5948	0.99439	0.0:1.0:0.0:0.0	.	204;221;221;221	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	D	221;220;221;221;221	ENSP00000295974:G221D;ENSP00000426018:G221D;ENSP00000427211:G221D;ENSP00000421539:G221D	ENSP00000295974:G221D	G	-	2	0	APBB2	40710530	1.000000	0.71417	0.844000	0.33320	0.033000	0.12548	3.916000	0.56416	2.873000	0.98535	0.563000	0.77884	GGC		0.567	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		5	368	0	0	0	1	0	5	368					T	41015773	C	T	41015773	3	4	77	1	0	0	0	0	1	0	0	0	761	739	26	3	1669	3	APBB2	4	41015773	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		41015773	150138503	4	1475										
PCDHGC3	5098	broad.mit.edu	37	chr5	140856203	140856203	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	actctttacaaacctatgagCtgagccgaaatgaatacttt	6	9	1	3			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr5:140856203C>G	ENST00000308177.3	+	1	624	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTATGAGCTGAGCCGAAA	0.602																																						ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(520-522)Ctg>Gtg									49	51	50					5																	140856203		2203	4300	6503	SO:0001583	missense	5098							g.chr5:140856203C>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.520C>G	5.37:g.140856203C>G	ENSP00000312070:p.Leu174Val					PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.L174V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	624	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.520C>G	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831386	0.50845	.	.	ENSG00000240184	ENST00000308177	T	0.55588	0.51	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69396	0.3106	M	0.71871	2.18	0.25514	N	0.987433	D;D	0.61697	0.981;0.99	P;D	0.63113	0.871;0.911	T	0.62751	-0.6788	9	0.72032	D	0.01	.	13.9797	0.64297	0.1513:0.8487:0.0:0.0	.	174;174	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	174	ENSP00000312070:L174V	ENSP00000312070:L174V	L	+	1	2	PCDHGC3	140836387	0.397000	0.25270	1.000000	0.80357	0.995000	0.86356	1.031000	0.30165	2.722000	0.93159	0.655000	0.94253	CTG		0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		12	25	0	0	0	1	0	12	25					G	140856203	C	G	140856203	3	3	77	1	0	0	0	0	1	0	0	0	11569	796	28	5	522	5	PCDHGC3	5	140856203	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		140856203	40059057	5	1476										
CUL9	23113	broad.mit.edu	37	chr6	43167852	43167852	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	tgtgagaagtacgcacagctCtatagcaacctcacctccag	8	13	2	1			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr6:43167852C>T	ENST00000252050.4	+	14	3426	c.3342C>T	c.(3340-3342)ctC>ctT	p.L1114L	CUL9_ENST00000372647.2_Silent_p.L1114L|CUL9_ENST00000354495.3_Silent_p.L1004L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1114					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACGCACAGCTCTATAGCAACC	0.567																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(3340-3342)ctC>ctT		cullin 9							64	55	58					6																	43167852		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43167852C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3342C>T	6.37:g.43167852C>T						CUL9_ENST00000354495.3_Silent_p.L1004L|CUL9_ENST00000372647.2_Silent_p.L1114L	p.L1114L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			14	3426	+			1114					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.3342C>T	CCDS4890.1																																																																																				0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		10	27	0	0	0	1	0	10	27					T	43167852	C	T	43167852	2	4	77	1	0	0	0	0	0	0	0	1	4061	900	32	3		3	CUL9	6	43167852	Silent	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		43167852	127947215	6	1477										
CYP2W1	54905	broad.mit.edu	37	chr7	1024197	1024197	+	Frame_Shift_Del	DEL	C	C	-													0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	atcgccatcttccagctcatCcagcgaggtggaggtcggtg							TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr7:1024197delC	ENST00000308919.7	+	2	337	c.324delC	c.(322-324)atcfs	p.I108fs	CYP2W1_ENST00000340150.6_Frame_Shift_Del_p.I52fs	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	108					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TCCAGCTCATCCAGCGAGGTG	0.721																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(154-156)atfs		cytochrome P450, family 2, subfamily W, polypeptide 1							11	13	12					7																	1024197		2118	4221	6339	SO:0001589	frameshift_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024197delC	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.324delC	7.37:g.1024197delC	ENSP00000310149:p.Ile108fs					CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.I108fs	p.I52fs			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	2	178	+		Ovarian(82;0.0112)	108						Frame_Shift_Del	DEL	ENST00000308919.7	37	c.156delC	CCDS5319.2																																																																																				0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		2	4						2	4	---	---	---	---	-	1024197	C	-	1024197	7	5	77	1	0	1	0	1	0	0	0	0	4176	845	30	0	330	0	CYP2W1	7	1024197	Frame_Shift_Del	DEL	C	TCGA-RW-A685-01A-11D-A35D-08		1024197	158114466	7	1478										
POU6F2	11281	broad.mit.edu	37	chr7	39247055	39247055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	gatgccgggaggccccccagCcctcaaccagccaatcctca	9	19	2	0			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr7:39247055C>T	ENST00000403058.1	+	5	501	c.347C>T	c.(346-348)gCc>gTc	p.A116V	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.A116V|POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	116					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCCCCCAGCCCTCAACCAG	0.577																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(346-348)gCc>gTc		POU class 6 homeobox 2							98	101	100					7																	39247055		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247055C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.347C>T	7.37:g.39247055C>T	ENSP00000384004:p.Ala116Val					POU6F2_ENST00000403058.1_Missense_Mutation_p.A116V|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.A108V	p.A116V			P78424	PO6F2_HUMAN			4	389	+			116					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.347C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291301	0.80914	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.88354	-2.36;-2.37	6.17	6.17	0.99709	.	1.293710	0.05365	N	0.534486	D	0.90075	0.6900	L	0.29908	0.895	0.32672	N	0.516707	P;B	0.45531	0.86;0.376	P;B	0.47075	0.536;0.141	D	0.85159	0.0991	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	116;116	P78424-2;P78424	.;PO6F2_HUMAN	V	116;116;117	ENSP00000384004:A116V;ENSP00000430514:A116V	ENSP00000384004:A116V	A	+	2	0	POU6F2	39213580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.155000	0.71833	2.941000	0.99782	0.655000	0.94253	GCC		0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		31	79	0	0	0	1	0	31	79					T	39247055	C	T	39247055	3	4	77	1	0	0	0	0	1	0	0	0	12285	739	26	3	361	3	POU6F2	7	39247055	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	38222858	39247055	119891608	8	1479										
KLF10	7071	broad.mit.edu	37	chr8	103662557	103662557	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	ggttcgcctgtgtctggacaGttcatcagaacgggcaaacc	12	11	3	1			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr8:103662557G>C	ENST00000285407.6	-	4	1546	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	KLF10_ENST00000395884.3_Missense_Mutation_p.L405V	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	416					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGTCTGGACAGTTCATCAGAA	0.478																																					Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.(1213-1215)Ctg>Gtg		Kruppel-like factor 10							97	88	91					8																	103662557		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103662557G>C	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1246C>G	8.37:g.103662557G>C	ENSP00000285407:p.Leu416Val					KLF10_ENST00000285407.6_Missense_Mutation_p.L416V	p.L405V	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		4	2115	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		416					A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1213C>G	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485331	0.84854	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.52983	0.64;0.64	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000021	T	0.75133	0.3808	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.998	T	0.78593	-0.2144	10	0.87932	D	0	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	416;405	Q13118;O75411	KLF10_HUMAN;.	V	416;405	ENSP00000285407:L416V;ENSP00000379222:L405V	ENSP00000285407:L416V	L	-	1	2	KLF10	103731733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.733000	0.93635	0.655000	0.94253	CTG		0.478	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			4	53	0	0	0	1	0	4	53					C	103662557	G	C	103662557	3	2	77	1	0	0	0	0	1	0	0	0	8338	1020	36	5	200	5	KLF10	8	103662557	Missense_Mutation	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		103662557	42701465	9	1480										
CDK5RAP2	55755	broad.mit.edu	37	chr9	123342198	123342198	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	caccaatgccccggccgcacCtgcagccgctgagcgtccca	10	20	0	1			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr9:123342198C>T	ENST00000349780.4	-	1	238	c.59G>A	c.(58-60)aGt>aAt	p.S20N	CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20N|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20N|CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	20					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCGGCCGCACCTGCAGCCGCT	0.642																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.e1+1		CDK5 regulatory subunit associated protein 2							41	34	36					9																	123342198		2203	4299	6502	SO:0001630	splice_region_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123342198C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.59+1G>A	9.37:g.123342198C>T						CDK5RAP2_ENST00000360190.4_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000359309.3_Splice_Site_p.S20_splice|CDK5RAP2_ENST00000360822.3_Splice_Site_p.S20_splice	p.S20_splice	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			1	238	-			20					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	SNP	ENST00000349780.4	37	c.59_splice	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403366	0.83230	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.04809	3.71;3.55;3.67;3.57	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000032	T	0.12433	0.0302	L	0.32530	0.975	0.31564	N	0.6572	D;P;D	0.76494	0.999;0.873;0.998	D;B;D	0.83275	0.996;0.382;0.991	T	0.01440	-1.1354	9	.	.	.	.	13.9646	0.64200	0.0:1.0:0.0:0.0	.	20;20;20	Q96SN8-2;Q96SN8-4;Q96SN8	.;.;CK5P2_HUMAN	N	20	ENSP00000354065:S20N;ENSP00000352258:S20N;ENSP00000343818:S20N;ENSP00000353317:S20N	.	S	-	2	0	CDK5RAP2	122382019	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.944000	0.49034	2.745000	0.94114	0.655000	0.94253	AGT		0.642	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	Missense_Mutation	7	9	0	0	0	1	0	7	9					T	123342198	C	T	123342198	5	4	77	1	0	0	0	0	0	0	1	0	3146	695	24	3	5774	3	CDK5RAP2	9	123342198	Splice_Site	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		123342198	17871233	10	1481										
KIAA1826	84437	broad.mit.edu	37	chr11	105880756	105880756	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	ggtaaaaaactcatcaatgtGggggaaatcgggaagttcat	12	5	3	0			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr11:105880756G>C	ENST00000301919.4	-	3	1959	c.544C>G	c.(544-546)Cac>Gac	p.H182D	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	182						nucleus (GO:0005634)											TCATCAATGTGGGGGAAATCG	0.393																																						ENST00000301919.4																			0											c.(544-546)Cac>Gac		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							104	110	108					11																	105880756		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880756G>C	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.544C>G	11.37:g.105880756G>C	ENSP00000304713:p.His182Asp						p.H182D	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	1959	-			182					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.544C>G	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749385	0.30955	.	.	ENSG00000170903	ENST00000301919;ENST00000530788	.	.	.	5.78	5.78	0.91487	.	0.244007	0.41823	D	0.000820	T	0.51856	0.1699	L	0.47716	1.5	0.39305	D	0.964974	B	0.31655	0.334	B	0.29176	0.099	T	0.56908	-0.7901	9	0.62326	D	0.03	-14.4826	14.8043	0.69942	0.0:0.0:0.8559:0.1441	.	182	Q8NCY6	K1826_HUMAN	D	182	.	ENSP00000304713:H182D	H	-	1	0	KIAA1826	105385966	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	5.679000	0.68160	2.734000	0.93682	0.491000	0.48974	CAC		0.393	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		15	60	0	0	0	1	0	15	60					C	105880756	G	C	105880756	3	2	77	1	0	0	0	0	1	0	0	0	8260	1348	47	5	497	5	KIAA1826	11	105880756	Missense_Mutation	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		105880756	29125760	11	1482										
SCN8A	6334	broad.mit.edu	37	chr12	52145212	52145212	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	actttcctcatctgggagtgCcacccctactggataaaact	7	13	2	0			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:52145212C>T	ENST00000354534.6	+	14	2383	c.2205C>T	c.(2203-2205)tgC>tgT	p.C735C	SCN8A_ENST00000545061.1_Silent_p.C735C|SCN8A_ENST00000550891.1_Silent_p.C735C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	735					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCTGGGAGTGCCACCCCTACT	0.443																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2203-2205)tgC>tgT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						196	183	187					12																	52145212		1927	4142	6069	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52145212C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2205C>T	12.37:g.52145212C>T						SCN8A_ENST00000550891.1_Silent_p.C735C|SCN8A_ENST00000545061.1_Silent_p.C735C	p.C735C	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2383	+			735					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.2205C>T	CCDS44891.1																																																																																				0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	119	0	0	0	1	0	4	119					T	52145212	C	T	52145212	2	4	77	1	0	0	0	0	0	0	0	1	13924	747	26	3		3	SCN8A	12	52145212	Silent	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		52145212	81706683	12	1483										
XPOT	11260	broad.mit.edu	37	chr12	64818384	64818384	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	taacctgtatcatagggtgaAgatgaagccatgtttgtaga	11	5	1	4			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr12:64818384A>G	ENST00000332707.5	+	12	1717	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	396					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CATAGGGTGAAGATGAAGCCA	0.418																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1186-1188)gaA>gaG		exportin, tRNA							101	98	99					12																	64818384		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818384A>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1188A>G	12.37:g.64818384A>G							p.E396E	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	12	1717	+			396					A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.1188A>G	CCDS31852.1																																																																																				0.418	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		30	53	0	0	0	1	0	30	53					G	64818384	A	G	64818384	2	3	77	1	0	0	0	0	0	0	0	1	17447	69	3	4		4	XPOT	12	64818384	Silent	SNP	A	TCGA-RW-A685-01A-11D-A35D-08	12673172	64818384	69033511	13	1484										
ZFHX3	463	broad.mit.edu	37	chr16	72829565	72829565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	gcttgatgagatcaaagatgCgctgaaacaccaggctacat	10	9	1	4			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr16:72829565C>T	ENST00000268489.5	-	9	7688	c.7016G>A	c.(7015-7017)cGc>cAc	p.R2339H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2339					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCAAAGATGCGCTGAAACAC	0.473																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7015-7017)cGc>cAc		zinc finger homeobox 3							157	144	148					16																	72829565		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829565C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7016G>A	16.37:g.72829565C>T	ENSP00000268489:p.Arg2339His					ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1425H	p.R2339H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7688	-		Ovarian(137;0.13)	2339					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7016G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762430	0.69763	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.80566	1.57;-1.39	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000101	D	0.89942	0.6861	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90315	0.4340	10	0.72032	D	0.01	.	19.722	0.96147	0.0:1.0:0.0:0.0	.	2339	Q15911	ZFHX3_HUMAN	H	2339;1425	ENSP00000268489:R2339H;ENSP00000438926:R1425H	ENSP00000268489:R2339H	R	-	2	0	ZFHX3	71387066	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	CGC		0.473	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	134	0	0	0	1	0	4	134					T	72829565	C	T	72829565	3	4	77	1	0	0	0	0	1	0	0	0	17631	768	27	1	4103	1	ZFHX3	16	72829565	Missense_Mutation	SNP	C	TCGA-RW-A685-01A-11D-A35D-08		72829565	17525188	14	1485										
NF1	4763	broad.mit.edu	37	chr17	29554565	29554565	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	gggaagatacacatgcaaaaTgggaacaagcaacaaagcta	10	7	0	1	rs199474730		TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr17:29554565T>A	ENST00000358273.4	+	20	2733	c.2350T>A	c.(2350-2352)Tgg>Agg	p.W784R	NF1_ENST00000356175.3_Missense_Mutation_p.W784R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	784			W -> C (in NF1; dbSNP:rs199474778). {ECO:0000269|PubMed:11735023}.|W -> R (in NF1; dbSNP:rs199474730). {ECO:0000269|PubMed:11857752, ECO:0000269|PubMed:15146469}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATGCAAAATGGGAACAAGC	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(4)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.0?(8)|p.?(4)|p.H781_Q786del(1)|p.T780_Q786>K(1)	soft_tissue(9)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM020464	NF1	M		c.(2350-2352)Tgg>Agg		neurofibromin 1							101	89	93					17																	29554565		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29554565T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2350T>A	17.37:g.29554565T>A	ENSP00000351015:p.Trp784Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.W784R	p.W784R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	20	2733	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	784		W -> C (in NF1).|W -> R (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2350T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.309446	0.81247	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.64991	-0.13;-0.13;0.9	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.986;0.998	T	0.77953	-0.2394	10	0.87932	D	0	.	14.6843	0.69040	0.0:0.0:0.0:1.0	.	784;784;784	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	R	784;784;450	ENSP00000351015:W784R;ENSP00000348498:W784R;ENSP00000389907:W450R	ENSP00000348498:W784R	W	+	1	0	NF1	26578691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.529000	0.81952	1.937000	0.56155	0.528000	0.53228	TGG		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		16	22	0	0	0	1	0	16	22					A	29554565	T	A	29554565	3	1	77	1	0	0	0	0	1	0	0	0	10356	1464	51	5	2489	5	NF1	17	29554565	Missense_Mutation	SNP	T	TCGA-RW-A685-01A-11D-A35D-08		29554565	51640645	15	1486										
BIRC5	332	broad.mit.edu	37	chr17	76212110	76212110	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	ggaggccgaggcgggcggatCacgaggtcaggagatcgaga	20	8	2	2			TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr17:76212110C>A	ENST00000301633.4	+	3	416	c.285C>A	c.(283-285)atC>atA	p.I95I	AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000374948.2_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			gcgggcggatcacgaggtcag	0.562																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(283-285)atC>atA		baculoviral IAP repeat containing 5							34	36	35					17																	76212110		2203	4296	6499	SO:0001819	synonymous_variant	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212110C>A	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"Baculoviral IAP repeat containing"	593	protein-coding gene	gene with protein product	"survivin variant 3 alpha"	603352	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000301633.4:c.285C>A	17.37:g.76212110C>A						BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron|AC087645.1_ENST00000600484.1_Intron	p.I95I	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	416	+			74					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Silent	SNP	ENST00000301633.4	37	c.285C>A	CCDS32752.1																																																																																				0.562	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3	NM_001168		3	25	1	0	0.115264	1	0.115264	3	25					A	76212110	C	A	76212110	2	1	77	1	0	0	0	0	0	0	0	1	1437	816	29	5		5	BIRC5	17	76212110	Silent	SNP	C	TCGA-RW-A685-01A-11D-A35D-08	46657545	76212110	4983100	16	1487										
GGT5	2687	broad.mit.edu	37	chr22	24628063	24628063	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0588235294117647	1	1	0.607843137254902	0	0.83578431372549	1	1	0	gcatctggcccagcctccccGtgtagaagacctccacgccc	9	19	1	2	rs200437428	byFrequency	TCGA-RW-A685-01A-11D-A35D-08	TCGA-RW-A685-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b200cb-3d8c-40f5-9071-0ace6b35150f	04a2d37c-e3b0-4fdc-a546-66cd8a6dc94a	g.chr22:24628063G>T	ENST00000327365.4	-	5	1126	c.710C>A	c.(709-711)aCg>aAg	p.T237K	GGT5_ENST00000398292.3_Missense_Mutation_p.T237K|GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000263112.7_Missense_Mutation_p.T205K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	237					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CAGCCTCCCCGTGTAGAAGAC	0.632																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(709-711)aCg>aAg		gamma-glutamyltransferase 5							54	45	48					22																	24628063		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24628063G>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.710C>A	22.37:g.24628063G>T	ENSP00000330080:p.Thr237Lys					GGT5_ENST00000263112.7_Missense_Mutation_p.T205K|GGT5_ENST00000418439.2_Missense_Mutation_p.T160K|GGT5_ENST00000398292.3_Missense_Mutation_p.T237K	p.T237K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			5	1126	-			237					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.710C>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587144	0.46110	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	4.73	2.24	0.28232	.	0.382480	0.28510	N	0.015083	T	0.28067	0.0692	L	0.42686	1.345	0.09310	N	1	D;P;P;B;P	0.60160	0.987;0.612;0.913;0.408;0.913	P;B;P;B;P	0.62298	0.9;0.365;0.787;0.148;0.787	T	0.10337	-1.0634	10	0.13853	T	0.58	-8.3817	9.973	0.41765	0.0:0.0:0.4564:0.5436	.	160;205;237;237;237	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	K	237;205;152;237;160	ENSP00000330080:T237K;ENSP00000263112:T205K;ENSP00000381340:T237K;ENSP00000392146:T160K	ENSP00000263112:T205K	T	-	2	0	GGT5	22958063	0.049000	0.20398	0.570000	0.28473	0.607000	0.37147	0.194000	0.17135	1.096000	0.41439	0.485000	0.47835	ACG		0.632	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		4	6	1	0	0.00909568	1	0.00950912	4	6					T	24628063	G	T	24628063	3	4	77	1	0	0	0	0	1	0	0	0	6362	1145	40	5	1085	5	GGT5	22	24628063	Missense_Mutation	SNP	G	TCGA-RW-A685-01A-11D-A35D-08		24628063	26676503	17	1488										
ARHGAP29	9411	broad.mit.edu	37	chr1	94639989	94639989	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaattttctgtagagtttgCtggtcaaagccattaaattt	8	5	2	2			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr1:94639989C>T	ENST00000260526.6	-	23	3404	c.3222G>A	c.(3220-3222)caG>caA	p.Q1074Q	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1074					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGAGTTTGCTGGTCAAAGC	0.388																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3220-3222)caG>caA		Rho GTPase activating protein 29							152	148	149					1																	94639989		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94639989C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3222G>A	1.37:g.94639989C>T							p.Q1074Q	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3404	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1074					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.3222G>A	CCDS748.1																																																																																				0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		4	118	0	0	0	1	0	4	118					T	94639989	C	T	94639989	2	4	78	1	0	0	0	0	0	0	0	1	878	796	28	3		3	ARHGAP29	1	94639989	Silent	SNP	C	TCGA-RW-A686-01A-11D-A35D-08		94639989	154610632	1	1489										
AFF3	3899	broad.mit.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-													0	0	1	0	0	0	1	1	0	ctggaggagctgctgctgccGctgctgctgctgctgctgct							TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1255-1257)del		AF4/FMR2 family, member 3			,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100218011_100218013delGCT	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del					AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del	p.S419del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			13	1490_1492	-			419			Poly-Ser.		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	c.1255_1257delAGC	CCDS42723.1																																																																																				0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		2	4						2	4	---	---	---	---	-	100218013	GCT	-	100218011	7	5	78	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-RW-A686-01A-11D-A35D-08		100218011	142981362	2	1490										
ABCA12	26154	broad.mit.edu	37	chr2	215910616	215910616	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagtgatgtgtcattctgaaAcacatttggaaaactagaca	8	6	2	3			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr2:215910616A>T	ENST00000272895.7	-	7	1036	c.817T>A	c.(817-819)Ttt>Att	p.F273I		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	273					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATTCTGAAACACATTTGGA	0.358																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(817-819)Ttt>Att		ATP-binding cassette, sub-family A (ABC1), member 12							89	92	91					2																	215910616		2202	4300	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215910616A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.817T>A	2.37:g.215910616A>T	ENSP00000272895:p.Phe273Ile						p.F273I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	7	1036	-		Renal(323;0.127)	273					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.817T>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069774	0.55539	.	.	ENSG00000144452	ENST00000272895	T	0.23552	1.9	5.62	4.47	0.54385	.	0.088909	0.49305	D	0.000145	T	0.16300	0.0392	L	0.27053	0.805	0.80722	D	1	B	0.24258	0.1	B	0.15484	0.013	T	0.06023	-1.0850	10	0.35671	T	0.21	.	8.4528	0.32882	0.9117:0.0:0.0883:0.0	.	273	Q86UK0	ABCAC_HUMAN	I	273	ENSP00000272895:F273I	ENSP00000272895:F273I	F	-	1	0	ABCA12	215618861	0.997000	0.39634	0.997000	0.53966	0.988000	0.76386	1.043000	0.30316	1.082000	0.41137	0.477000	0.44152	TTT		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		20	40	0	0	0	1	0	20	40					T	215910616	A	T	215910616	3	4	78	1	0	0	0	0	1	0	0	0	30	43	2	5	7189	5	ABCA12	2	215910616	Missense_Mutation	SNP	A	TCGA-RW-A686-01A-11D-A35D-08	115692605	215910616	27288757	3	1491										
CELSR3	1951	broad.mit.edu	37	chr3	48696931	48696931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tactgactggagtccggagtGggggcacacctctgtccact	13	12	1	1			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:48696931G>A	ENST00000164024.4	-	1	3417	c.3137C>T	c.(3136-3138)cCa>cTa	p.P1046L	CELSR3_ENST00000544264.1_Missense_Mutation_p.P1046L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1046	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTCCGGAGTGGGGGCACACC	0.557																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3136-3138)cCa>cTa		cadherin, EGF LAG seven-pass G-type receptor 3							130	127	128					3																	48696931		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696931G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3137C>T	3.37:g.48696931G>A	ENSP00000164024:p.Pro1046Leu					CELSR3_ENST00000164024.4_Missense_Mutation_p.P1046L	p.P1046L			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3417	-			1046			Cadherin 7.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3137C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334896	0.81801	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.56941	0.43;0.43	5.78	5.78	0.91487	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75295	0.3830	M	0.81682	2.555	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.69654	0.833;0.965	T	0.77595	-0.2529	9	0.87932	D	0	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	1046;1116	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	L	1046	ENSP00000164024:P1046L;ENSP00000445694:P1046L	ENSP00000164024:P1046L	P	-	2	0	CELSR3	48671935	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	9.869000	0.99810	2.733000	0.93635	0.561000	0.74099	CCA		0.557	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		76	162	0	0	0	1	0	76	162					A	48696931	G	A	48696931	3	1	78	1	0	0	0	0	1	0	0	0	3223	1348	47	3	6941	3	CELSR3	3	48696931	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08		48696931	149325499	4	1492										
BSN	8927	broad.mit.edu	37	chr3	49702234	49702234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctctttctttgtcacagctGtctctgcttttggcaaaaaa	6	11	4	0			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr3:49702234G>A	ENST00000296452.4	+	10	11857	c.11743G>A	c.(11743-11745)Gtc>Atc	p.V3915I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3915					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGTCACAGCTGTCTCTGCTTT	0.542																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11743-11745)Gtc>Atc		bassoon presynaptic cytomatrix protein							149	146	147					3																	49702234		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49702234G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11743G>A	3.37:g.49702234G>A	ENSP00000296452:p.Val3915Ile						p.V3915I	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	10	11857	+			3915					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.11743G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579003	0.46006	.	.	ENSG00000164061	ENST00000296452	T	0.19105	2.17	5.02	5.02	0.67125	.	0.470589	0.20246	N	0.096196	T	0.17280	0.0415	L	0.38531	1.155	0.47778	D	0.999518	P	0.38020	0.615	B	0.29267	0.1	T	0.04413	-1.0953	10	0.38643	T	0.18	-19.9079	17.4698	0.87642	0.0:0.0:1.0:0.0	.	3915	Q9UPA5	BSN_HUMAN	I	3915	ENSP00000296452:V3915I	ENSP00000296452:V3915I	V	+	1	0	BSN	49677238	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.742000	0.62103	2.481000	0.83766	0.561000	0.74099	GTC		0.542	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	208	0	0	0	1	0	5	208					A	49702234	G	A	49702234	3	1	78	1	0	0	0	0	1	0	0	0	1530	1377	48	3	11781	3	BSN	3	49702234	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08	1005303	49702234	148320196	5	1493										
FGF5	2250	broad.mit.edu	37	chr4	81188037	81188037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgatcctcagcgcctgggCtcacggggagaagcgtctcg	14	14	3	2			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr4:81188037C>T	ENST00000312465.7	+	1	285	c.59C>T	c.(58-60)gCt>gTt	p.A20V	FGF5_ENST00000456523.3_Missense_Mutation_p.A20V	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	20					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCGCCTGGGCTCACGGGGAG	0.617																																						ENST00000456523.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(58-60)gCt>gTt		fibroblast growth factor 5							41	44	43					4																	81188037		2202	4300	6502	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188037C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.59C>T	4.37:g.81188037C>T	ENSP00000311697:p.Ala20Val					FGF5_ENST00000312465.7_Missense_Mutation_p.A20V	p.A20V	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN			1	245	+			20					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.59C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051676	0.75960	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.09073	3.02;3.02	5.51	4.67	0.58626	.	0.361948	0.25408	N	0.030884	T	0.07548	0.0190	L	0.29908	0.895	0.33789	D	0.625237	P;B	0.36010	0.532;0.039	B;B	0.37422	0.249;0.012	T	0.23940	-1.0174	10	0.41790	T	0.15	.	9.8889	0.41279	0.0:0.7873:0.1385:0.0741	.	20;20	P12034-2;P12034	.;FGF5_HUMAN	V	20	ENSP00000311697:A20V;ENSP00000398353:A20V	ENSP00000311697:A20V	A	+	2	0	FGF5	81407061	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	1.292000	0.33342	1.557000	0.49525	0.561000	0.74099	GCT		0.617	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			4	65	0	0	0	1	0	4	65					T	81188037	C	T	81188037	3	4	78	1	0	0	0	0	1	0	0	0	5855	797	28	3	61	3	FGF5	4	81188037	Missense_Mutation	SNP	C	TCGA-RW-A686-01A-11D-A35D-08		81188037	109966239	6	1494										
ITGB1	3688	broad.mit.edu	37	chr10	33217043	33217045	+	In_Frame_Del	DEL	TCC	TCC	-													0	0	1	0	0	0	1	1	0	aattctgaagtccgaagtaaTcctcctcatttcattcatca							TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr10:33217043_33217045delTCC	ENST00000396033.2	-	5	659_661	c.524_526delGGA	c.(523-528)aggatt>att	p.R175del	ITGB1_ENST00000302278.3_In_Frame_Del_p.R175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000374956.4_In_Frame_Del_p.R175del|ITGB1_ENST00000423113.1_In_Frame_Del_p.R175del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	175	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TCCGAAGTAATCCTCCTCATTTC	0.355																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(523-528)att>a		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)																																				SO:0001651	inframe_deletion	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33217043_33217045delTCC	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.524_526delGGA	10.37:g.33217046_33217048delTCC	ENSP00000379350:p.Arg175del					ITGB1_ENST00000374956.4_In_Frame_Del_p.RI175del|ITGB1_ENST00000302278.3_In_Frame_Del_p.RI175del|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_In_Frame_Del_p.RI175del	p.RI175del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			5	659_661	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	175			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	In_Frame_Del	DEL	ENST00000396033.2	37	c.524_526delGGA	CCDS7174.1																																																																																				0.355	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		43	82						43	82	---	---	---	---	-	33217045	TCC	-	33217043	7	5	78	1	0	1	0	1	0	0	0	0	7890	1435	50	0	2156	0	ITGB1	10	33217043	In_Frame_Del	DEL	TCC	TCGA-RW-A686-01A-11D-A35D-08		33217043	102317704	7	1495										
SLC47A1	55244	broad.mit.edu	37	chr17	19458546	19458546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaattgtactgccccagatcGtaactggagttgcagccaac	10	11	0	1			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:19458546G>A	ENST00000270570.4	+	7	651	c.565G>A	c.(565-567)Gta>Ata	p.V189I	SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V166I|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	189					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCCCCAGATCGTAACTGGAGT	0.507																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(565-567)Gta>Ata		solute carrier family 47 (multidrug and toxin extrusion), member 1							302	245	265					17																	19458546		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19458546G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.565G>A	17.37:g.19458546G>A	ENSP00000270570:p.Val189Ile					SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000436810.2_Missense_Mutation_p.V166I|SLC47A1_ENST00000457293.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000395585.1_Missense_Mutation_p.V189I|SLC47A1_ENST00000542886.1_Intron	p.V189I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			7	651	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		189					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.565G>A	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	1.238	-0.622120	0.03636	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.6	-4.78	0.03209	.	0.538389	0.22101	N	0.064617	T	0.08403	0.0209	N	0.04669	-0.19	0.40720	D	0.982656	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.11329	0.002;0.004;0.006	T	0.25222	-1.0138	10	0.12430	T	0.62	-14.0053	3.3813	0.07256	0.309:0.3816:0.2175:0.0919	.	166;189;189	E7EX57;Q96FL8;Q96FL8-3	.;S47A1_HUMAN;.	I	166;189;189;189	ENSP00000407155:V166I;ENSP00000270570:V189I;ENSP00000415586:V189I;ENSP00000378951:V189I	ENSP00000270570:V189I	V	+	1	0	SLC47A1	19399138	0.000000	0.05858	0.000000	0.03702	0.712000	0.41017	-1.974000	0.01499	-0.814000	0.04352	-0.137000	0.14449	GTA		0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		5	260	0	0	0	1	0	5	260					A	19458546	G	A	19458546	3	1	78	1	0	0	0	0	1	0	0	0	14647	1145	40	1	591	1	SLC47A1	17	19458546	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08		19458546	61736664	8	1496										
MRC2	9902	broad.mit.edu	37	chr17	60742089	60742089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgggcacaggctggccagGcaccaacaccacggcctccc	11	19	0	0			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr17:60742089G>A	ENST00000303375.5	+	2	701	c.299G>A	c.(298-300)gGc>gAc	p.G100D		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	100	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCTGGCCAGGCACCAACACC	0.607																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(298-300)gGc>gAc		mannose receptor, C type 2							77	70	73					17																	60742089		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60742089G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.299G>A	17.37:g.60742089G>A	ENSP00000307513:p.Gly100Asp						p.G100D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	701	+			100			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.299G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586310	0.46110	.	.	ENSG00000011028	ENST00000303375	T	0.31769	1.48	5.23	3.21	0.36854	Ricin B-related lectin (1);Ricin B lectin (2);	0.350989	0.33753	N	0.004596	T	0.18215	0.0437	N	0.25647	0.755	0.80722	D	1	B	0.28713	0.22	B	0.24006	0.05	T	0.05716	-1.0868	10	0.45353	T	0.12	-23.7362	6.2578	0.20884	0.0699:0.2445:0.5594:0.1261	.	100	Q9UBG0	MRC2_HUMAN	D	100	ENSP00000307513:G100D	ENSP00000307513:G100D	G	+	2	0	MRC2	58095821	0.985000	0.35326	0.995000	0.50966	0.987000	0.75469	2.306000	0.43673	0.578000	0.29487	0.561000	0.74099	GGC		0.607	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			24	44	0	0	0	1	0	24	44					A	60742089	G	A	60742089	3	1	78	1	0	0	0	0	1	0	0	0	9758	1203	42	3	305	3	MRC2	17	60742089	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08	41283543	60742089	20453121	9	1497										
PCK1	5105	broad.mit.edu	37	chr20	56138155	56138155	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctgcctgaccgcagagagAtcatctcctttggcagtggg	12	12	2	3			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr20:56138155A>T	ENST00000319441.4	+	5	846	c.682A>T	c.(682-684)Atc>Ttc	p.I228F	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.I96F	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	228					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGCAGAGAGATCATCTCCTT	0.612																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(682-684)Atc>Ttc		phosphoenolpyruvate carboxykinase 1 (soluble)							76	79	78					20																	56138155		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138155A>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.682A>T	20.37:g.56138155A>T	ENSP00000319814:p.Ile228Phe					PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.I96F	p.I228F	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	846	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		228					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.682A>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018649	0.93404	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.08984	3.03;3.03	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67051	-0.5768	10	0.87932	D	0	-41.4685	15.1223	0.72453	1.0:0.0:0.0:0.0	.	228	P35558	PCKGC_HUMAN	F	228;96	ENSP00000319814:I228F;ENSP00000444342:I96F	ENSP00000319814:I228F	I	+	1	0	PCK1	55571561	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.983000	0.76180	2.040000	0.60383	0.533000	0.62120	ATC		0.612	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			26	60	0	0	0	1	0	26	60					T	56138155	A	T	56138155	3	4	78	1	0	0	0	0	1	0	0	0	11581	333	12	5	696	5	PCK1	20	56138155	Missense_Mutation	SNP	A	TCGA-RW-A686-01A-11D-A35D-08		56138155	6887365	10	1498										
BCR	613	broad.mit.edu	37	chr22	23523743	23523743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgacaaagaggtgtcggaccGcatcagctccctgggcagcc	13	14	1	1			TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:23523743G>A	ENST00000305877.8	+	1	1347	c.596G>A	c.(595-597)cGc>cAc	p.R199H	BCR_ENST00000359540.3_Missense_Mutation_p.R199H|BCR_ENST00000398512.5_Missense_Mutation_p.R199H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	199	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GTGTCGGACCGCATCAGCTCC	0.667			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"ABL1,  FGFR1, JAK2 "		"CML, ALL, AML"	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(595-597)cGc>cAc		breakpoint cluster region																																				SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523743G>A		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.596G>A	22.37:g.23523743G>A	ENSP00000303507:p.Arg199His					BCR_ENST00000359540.3_Missense_Mutation_p.R199H|BCR_ENST00000398512.5_Missense_Mutation_p.R199H	p.R199H	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			1	1347	+			199			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.596G>A	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832592	0.50845	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.48836	1.64;1.63;0.8	4.35	3.34	0.38264	.	0.081767	0.48286	D	0.000199	T	0.31358	0.0794	N	0.14661	0.345	0.27192	N	0.960401	P;D	0.53151	0.938;0.958	P;B	0.45610	0.487;0.271	T	0.13899	-1.0492	10	0.72032	D	0.01	.	6.7864	0.23675	0.23:0.0:0.77:0.0	.	199;199	P11274-2;P11274	.;BCR_HUMAN	H	199	ENSP00000303507:R199H;ENSP00000352535:R199H;ENSP00000381524:R199H	ENSP00000290956:R199H	R	+	2	0	BCR	21853743	0.999000	0.42202	0.219000	0.23793	0.295000	0.27426	4.931000	0.63469	0.959000	0.37980	-0.259000	0.10710	CGC		0.667	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		4	44	0	0	0	1	0	4	44					A	23523743	G	A	23523743	3	1	78	1	0	0	0	0	1	0	0	0	1388	1087	38	1	598	1	BCR	22	23523743	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08		23523743	27780823	11	1499										
SEC14L3	266629	broad.mit.edu	37	chr22	30858116	30858116	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	catctgggtcagtcagggtgCccccaaactgggcaggcagt							TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:30858116delC	ENST00000215812.4	-	9	818	c.728delG	c.(727-729)ggcfs	p.G243fs	SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000403066.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	243	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGTCAGGGTGCCCCCAAACTG	0.507																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(550-552)gcfs		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						95	82	86					22																	30858116		2203	4300	6503	SO:0001589	frameshift_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30858116delC	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.728delG	22.37:g.30858116delC	ENSP00000215812:p.Gly243fs					SEC14L3_ENST00000415957.2_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000402286.1_Frame_Shift_Del_p.G166fs|SEC14L3_ENST00000401751.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000539629.1_Frame_Shift_Del_p.G184fs|SEC14L3_ENST00000215812.4_Frame_Shift_Del_p.G243fs|SEC14L3_ENST00000540910.1_Frame_Shift_Del_p.G166fs	p.G184fs			Q9UDX4	S14L3_HUMAN			10	834	-			243			CRAL-TRIO.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Frame_Shift_Del	DEL	ENST00000215812.4	37	c.551delG	CCDS13877.1																																																																																				0.507	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		7	35						7	35	---	---	---	---	-	30858116	C	-	30858116	7	5	78	1	0	1	0	1	0	0	0	0	13983	739	26	0	490	0	SEC14L3	22	30858116	Frame_Shift_Del	DEL	C	TCGA-RW-A686-01A-11D-A35D-08	7334373	30858116	20446450	12	1500										
APOL2	23780	broad.mit.edu	37	chr22	36624072	36624072	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagacccaggccgaggaggGtcaggatgccagaggtagtg	17	10	1	2	rs545596762		TCGA-RW-A686-01A-11D-A35D-08	TCGA-RW-A686-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fad743-052d-43b4-aac1-853e9800a7a5	b02dc736-4433-4a57-99f0-6ca1e83e00b3	g.chr22:36624072G>C	ENST00000249066.6	-	6	868	c.392C>G	c.(391-393)aCc>aGc	p.T131S	APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	131					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCCGAGGAGGGTCAGGATGCC	0.582																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(391-393)aCc>aGc		apolipoprotein L, 2							74	83	80					22																	36624072		2201	4296	6497	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624072G>C	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.392C>G	22.37:g.36624072G>C	ENSP00000249066:p.Thr131Ser					APOL2_ENST00000451256.2_Missense_Mutation_p.T243S|APOL2_ENST00000358502.5_Missense_Mutation_p.T131S	p.T131S	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	868	-			131					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.392C>G	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	1.766	-0.485622	0.04352	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.03801	3.8;3.8;3.8	3.57	-7.15	0.01521	.	0.671823	0.15529	N	0.257588	T	0.02455	0.0075	N	0.11154	0.105	0.09310	N	1	B;B	0.26445	0.149;0.021	B;B	0.25140	0.058;0.019	T	0.24154	-1.0168	10	0.06757	T	0.87	.	20.0245	0.97517	0.0:0.7352:0.2648:0.0	.	243;131	B4E1T5;Q9BQE5	.;APOL2_HUMAN	S	131;131;243	ENSP00000351292:T131S;ENSP00000249066:T131S;ENSP00000403153:T243S	ENSP00000249066:T131S	T	-	2	0	APOL2	34954018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.615000	0.00882	-1.838000	0.01187	-1.963000	0.00474	ACC		0.582	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		24	48	0	0	0	1	0	24	48					C	36624072	G	C	36624072	3	2	78	1	0	0	0	0	1	0	0	0	806	1261	44	5	625	5	APOL2	22	36624072	Missense_Mutation	SNP	G	TCGA-RW-A686-01A-11D-A35D-08	5765956	36624072	14680494	13	1501										
BAI2	576	broad.mit.edu	37	chr1	32204531	32204531	+	Silent	SNP	G	G	A													0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	cacccgggatgtgacggccaGcgggggcctgcgggacaggt							TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr1:32204531G>A	ENST00000373658.3	-	16	2844	c.2503C>T	c.(2503-2505)Ctg>Ttg	p.L835L	BAI2_ENST00000398542.1_Silent_p.L768L|BAI2_ENST00000398556.3_Silent_p.L783L|BAI2_ENST00000257070.4_Silent_p.L835L|BAI2_ENST00000398547.1_Silent_p.L768L|BAI2_ENST00000527361.1_Silent_p.L835L|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398538.1_Silent_p.L823L|BAI2_ENST00000373655.2_Silent_p.L835L|BAI2_ENST00000440175.2_Silent_p.L477L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	835					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTGACGGCCAGCGGGGGCCTG	0.632																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2503-2505)Ctg>Ttg		brain-specific angiogenesis inhibitor 2							44	50	48					1																	32204531		2203	4299	6502	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204531G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2503C>T	1.37:g.32204531G>A						BAI2_ENST00000398542.1_Silent_p.L768L|BAI2_ENST00000398538.1_Silent_p.L823L|BAI2_ENST00000527361.1_Silent_p.L835L|BAI2_ENST00000373655.2_Silent_p.L835L|BAI2_ENST00000398547.1_Silent_p.L768L|BAI2_ENST00000257070.4_Silent_p.L835L|BAI2_ENST00000398556.3_Silent_p.L783L|BAI2_ENST00000440175.2_Silent_p.L477L	p.L835L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	16	2844	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	835					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2503C>T	CCDS346.2																																																																																				0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		27	42	0	0	0	1	0	27	42					A	32204531	G	A	32204531	2	1	79	1	0	0	0	0	0	0	0	1	1299	962	34	3		3	BAI2	1	32204531	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		32204531	217046090	1	1502	11	2								
BAI2	576	broad.mit.edu	37	chr1	32204532	32204532	+	Silent	SNP	C	C	T													0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	acccgggatgtgacggccagCgggggcctgcgggacaggta							TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr1:32204532C>T	ENST00000373658.3	-	16	2843	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	BAI2_ENST00000398542.1_Silent_p.P767P|BAI2_ENST00000398556.3_Silent_p.P782P|BAI2_ENST00000257070.4_Silent_p.P834P|BAI2_ENST00000398547.1_Silent_p.P767P|BAI2_ENST00000527361.1_Silent_p.P834P|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000398538.1_Silent_p.P822P|BAI2_ENST00000373655.2_Silent_p.P834P|BAI2_ENST00000440175.2_Silent_p.P476P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	834					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGACGGCCAGCGGGGGCCTGC	0.637																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(2500-2502)ccG>ccA		brain-specific angiogenesis inhibitor 2							44	49	47					1																	32204532		2203	4299	6502	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32204532C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2502G>A	1.37:g.32204532C>T						BAI2_ENST00000398542.1_Silent_p.P767P|BAI2_ENST00000398538.1_Silent_p.P822P|BAI2_ENST00000527361.1_Silent_p.P834P|BAI2_ENST00000373655.2_Silent_p.P834P|BAI2_ENST00000398547.1_Silent_p.P767P|BAI2_ENST00000257070.4_Silent_p.P834P|BAI2_ENST00000398556.3_Silent_p.P782P|BAI2_ENST00000440175.2_Silent_p.P476P	p.P834P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	16	2843	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	834					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2502G>A	CCDS346.2																																																																																				0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		27	41	0	0	0	1	0	27	41					T	32204532	C	T	32204532	2	4	79	1	0	0	0	0	0	0	0	1	1299	755	27	1		1	BAI2	1	32204532	Silent	SNP	C	TCGA-RW-A688-01A-11D-A35D-08	1	32204532	217046089	2	1503	11	2								
MAPKAPK3	7867	broad.mit.edu	37	chr3	50681871	50681871	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	actctacacatctaaggagaAagacgcagtgcttaagctca	8	10	3	2			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr3:50681871A>G	ENST00000446044.1	+	8	1132	c.536A>G	c.(535-537)aAa>aGa	p.K179R	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TCTAAGGAGAAAGACGCAGTG	0.498																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(535-537)aAa>aGa		mitogen-activated protein kinase-activated protein kinase 3							129	119	122					3																	50681871		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50681871A>G	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.536A>G	3.37:g.50681871A>G	ENSP00000396467:p.Lys179Arg					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K179R	p.K179R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	8	1132	+			179			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.536A>G	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	A	2.044	-0.419284	0.04766	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.50001	0.76;0.76;0.76	5.79	-1.02	0.10135	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.733496	0.13890	N	0.355652	T	0.26268	0.0641	N	0.20845	0.615	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.15037	-1.0451	10	0.26408	T	0.33	-9.6247	6.0496	0.19779	0.4366:0.369:0.1944:0.0	.	179	Q16644	MAPK3_HUMAN	R	179	ENSP00000396467:K179R;ENSP00000410970:K179R;ENSP00000350639:K179R	ENSP00000350639:K179R	K	+	2	0	MAPKAPK3	50656875	0.334000	0.24739	0.001000	0.08648	0.034000	0.12701	1.053000	0.30442	-0.387000	0.07809	-0.313000	0.08912	AAA		0.498	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		3	90	0	0	0	1	0	3	90					G	50681871	A	G	50681871	3	3	79	1	0	0	0	0	1	0	0	0	9290	14	1	4	554	4	MAPKAPK3	3	50681871	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		50681871	147340559	3	1504										
RAD54L2	23132	broad.mit.edu	37	chr3	51697226	51697226	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	tccgagccgaggatgtttgcGccttttccttcccctgtctt	9	14	1	0			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr3:51697226G>C	ENST00000409535.2	+	22	4319	c.4194G>C	c.(4192-4194)gcG>gcC	p.A1398A	RAD54L2_ENST00000296477.3_Silent_p.A1092A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1398						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGATGTTTGCGCCTTTTCCTT	0.577																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(4192-4194)gcG>gcC		RAD54-like 2 (S. cerevisiae)							159	134	143					3																	51697226		2203	4300	6503	SO:0001819	synonymous_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51697226G>C	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.4194G>C	3.37:g.51697226G>C						RAD54L2_ENST00000296477.3_Silent_p.A1092A	p.A1398A	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	22	4319	+			1398					Q8TB57|Q9BV54	Silent	SNP	ENST00000409535.2	37	c.4194G>C	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	4.390	0.072012	0.08436	.	.	ENSG00000164080	ENST00000432863	D	0.94613	-3.47	5.56	3.41	0.39046	.	0.084341	0.48767	D	0.000170	D	0.92205	0.7528	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.88434	0.3037	7	0.33940	T	0.23	-14.256	4.2008	0.10466	0.0877:0.1259:0.5361:0.2503	.	.	.	.	P	1227	ENSP00000410283:A1227P	ENSP00000410283:A1227P	A	+	1	0	RAD54L2	51672266	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.867000	0.27968	1.314000	0.45095	0.655000	0.94253	GCC		0.577	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		49	32	0	0	0	1	0	49	32					C	51697226	G	C	51697226	2	2	79	1	0	0	0	0	0	0	0	1	12994	1074	38	5		5	RAD54L2	3	51697226	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08	1015355	51697226	146325204	4	1505										
PHIP	55023	broad.mit.edu	37	chr6	79675671	79675671	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	tatttccttaccaaacattgTagcattgaaacagactatca	4	9	1	2			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr6:79675671T>C	ENST00000275034.4	-	28	3475	c.3308A>G	c.(3307-3309)tAc>tGc	p.Y1103C	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1103	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCAAACATTGTAGCATTGAAA	0.373																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3307-3309)tAc>tGc		pleckstrin homology domain interacting protein							134	143	140					6																	79675671		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79675671T>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3308A>G	6.37:g.79675671T>C	ENSP00000275034:p.Tyr1103Cys					PHIP_ENST00000479165.1_5'UTR	p.Y1103C	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	28	3475	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1103			Mediates interaction with IRS1 (By similarity).		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.3308A>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160639	0.57368	.	.	ENSG00000146247	ENST00000275034	T	0.41758	0.99	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.54679	0.1873	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.55541	-0.8125	9	.	.	.	-5.5745	15.3474	0.74350	0.0:0.0:0.0:1.0	.	1103;1103	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	1103	ENSP00000275034:Y1103C	.	Y	-	2	0	PHIP	79732390	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	4.595000	0.61048	2.279000	0.76181	0.528000	0.53228	TAC		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			12	84	0	0	0	1	0	12	84					C	79675671	T	C	79675671	3	2	79	1	0	0	0	0	1	0	0	0	11842	1638	57	4	2209	4	PHIP	6	79675671	Missense_Mutation	SNP	T	TCGA-RW-A688-01A-11D-A35D-08		79675671	91439396	5	1506										
PDP1	54704	broad.mit.edu	37	chr8	94934280	94934280	+	5'UTR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	ttccagcctgccactgttctCtgatgccatgccagcaccaa	7	16	1	1			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr8:94934280C>G	ENST00000297598.4	+	0	262				PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000396200.3_Missense_Mutation_p.S23C|PDP1_ENST00000517764.1_5'UTR	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1						cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACTGTTCTCTGATGCCATG	0.443																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(67-69)tCt>tGt		pyruvate dehyrogenase phosphatase catalytic subunit 1							129	125	126					8																	94934280		2203	4300	6503	SO:0001623	5_prime_UTR_variant	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934280C>G	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.-8C>G	8.37:g.94934280C>G						PDP1_ENST00000297598.4_5'UTR|PDP1_ENST00000520728.1_5'UTR|PDP1_ENST00000517764.1_5'UTR	p.S23C	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	344	+			0					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.68C>G	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060988	0.55432	.	.	ENSG00000164951	ENST00000396200	T	0.47869	0.83	6.16	6.16	0.99307	.	0.000000	0.35466	U	0.003186	T	0.34629	0.0904	N	0.14661	0.345	0.29964	N	0.81916	P	0.42785	0.79	B	0.40741	0.339	T	0.43393	-0.9394	10	0.87932	D	0	-13.8974	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	49	B4DYX8	.	C	23	ENSP00000379503:S23C	ENSP00000379503:S23C	S	+	2	0	PDP1	95003456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.331000	0.52075	2.937000	0.99478	0.650000	0.86243	TCT		0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		13	30	0	0	0	1	0	13	30					G	94934280	C	G	94934280	1	3	79	0	1	0	0	0	0	0	0	0	11685	913	32	5		5	PDP1	8	94934280	5'UTR	SNP	C	TCGA-RW-A688-01A-11D-A35D-08		94934280	51429742	6	1507										
EHF	26298	broad.mit.edu	37	chr11	34673125	34673125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	cacctggaaagacgagaactAtttatatgacaccaactatg	7	9	0	3			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr11:34673125A>G	ENST00000533754.1	+	5	660	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000257831.3_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000450654.2_Missense_Mutation_p.Y148C					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GACGAGAACTATTTATATGAC	0.428																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(442-444)tAt>tGt		ets homologous factor							114	107	110					11																	34673125		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34673125A>G	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.443A>G	11.37:g.34673125A>G	ENSP00000435837:p.Tyr148Cys					EHF_ENST00000530286.1_Missense_Mutation_p.Y148C|EHF_ENST00000531794.1_Missense_Mutation_p.Y170C|EHF_ENST00000533754.1_Missense_Mutation_p.Y148C|EHF_ENST00000450654.2_Missense_Mutation_p.Y148C	p.Y148C	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		5	564	+		all_hematologic(20;0.117)	148						Missense_Mutation	SNP	ENST00000533754.1	37	c.443A>G	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.790737	0.70452	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000525253;ENST00000531794;ENST00000532302	T;T;T;T;T;T;T;T	0.37915	3.2;2.9;3.2;3.2;1.22;1.32;3.17;1.17	6.17	6.17	0.99709	.	0.896139	0.09982	N	0.730843	T	0.52175	0.1718	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.936;0.997;0.996	T	0.29792	-1.0000	10	0.37606	T	0.19	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	170;148;148	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	C	148;148;148;148;148;148;170;148	ENSP00000257831:Y148C;ENSP00000399733:Y148C;ENSP00000433508:Y148C;ENSP00000435837:Y148C;ENSP00000432905:Y148C;ENSP00000434395:Y148C;ENSP00000435835:Y170C;ENSP00000432460:Y148C	ENSP00000257831:Y148C	Y	+	2	0	EHF	34629701	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	3.437000	0.52863	2.371000	0.80710	0.533000	0.62120	TAT		0.428	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		28	31	0	0	0	1	0	28	31					G	34673125	A	G	34673125	3	3	79	1	0	0	0	0	1	0	0	0	4981	449	16	4	457	4	EHF	11	34673125	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		34673125	100333391	7	1508										
MGST1	4257	broad.mit.edu	37	chr12	16516841	16516841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	tgcacttcagactatttgtcGgagcacggatctaccacacc	8	13	2	1	rs139915404		TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr12:16516841G>A	ENST00000396209.1	+	4	477	c.334G>A	c.(334-336)Gga>Aga	p.G112R	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R|MGST1_ENST00000535309.1_Intron	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	112					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	ACTATTTGTCGGAGCACGGAT	0.453																																						ENST00000396209.1																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(334-336)Gga>Aga		microsomal glutathione S-transferase 1	Glutathione(DB00143)	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	214	195	201		334,334,334,334	4.4	1	12	dbSNP_134	201	0,8600		0,0,4300	no	missense,missense,missense,missense	MGST1	NM_020300.3,NM_145764.1,NM_145791.1,NM_145792.1	125,125,125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	112/156,112/156,112/156,112/156	16516841	2,13004	2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516841G>A	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"Glutathione S-transferases / Microsomal"	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.334G>A	12.37:g.16516841G>A	ENSP00000379512:p.Gly112Arg					MGST1_ENST00000396210.3_Missense_Mutation_p.G112R|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Missense_Mutation_p.G112R|MGST1_ENST00000010404.2_Missense_Mutation_p.G112R|MGST1_ENST00000540056.1_3'UTR	p.G112R	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN			4	477	+		Hepatocellular(102;0.121)	112					A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.334G>A	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205464	0.58234	4.54E-4	0.0	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.27	4.36	0.52297	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.105167	0.64402	D	0.000004	T	0.56307	0.1976	M	0.77103	2.36	0.58432	D	0.999991	B	0.31193	0.312	B	0.27170	0.077	T	0.55798	-0.8084	10	0.25106	T	0.35	6.575	14.4572	0.67425	0.0722:0.0:0.9278:0.0	.	112	P10620	MGST1_HUMAN	R	112;76;112;112;112	ENSP00000010404:G112R;ENSP00000442767:G76R;ENSP00000379513:G112R;ENSP00000379512:G112R;ENSP00000379510:G112R	ENSP00000010404:G112R	G	+	1	0	MGST1	16408108	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	8.447000	0.90332	2.739000	0.93911	0.655000	0.94253	GGA		0.453	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		42	74	0	0	0	1	0	42	74					A	16516841	G	A	16516841	3	1	79	1	0	0	0	0	1	0	0	0	9560	1117	39	2	344	2	MGST1	12	16516841	Missense_Mutation	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		16516841	117335054	8	1509										
ANAPC7	51434	broad.mit.edu	37	chr12	110825686	110825686	+	Frame_Shift_Del	DEL	G	G	-													0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	ctctgccccttttacagaaaGggacaacaagcctaaaccaa							TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr12:110825686delG	ENST00000455511.3	-	5	634	c.634delC	c.(634-636)cttfs	p.L212fs	ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	212					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTTACAGAAAGGGACAACAAG	0.473																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(634-636)ttfs		anaphase promoting complex subunit 7							86	68	74					12																	110825686		2203	4300	6503	SO:0001589	frameshift_variant	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110825686delG	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.634delC	12.37:g.110825686delG	ENSP00000394394:p.Leu212fs					RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Frame_Shift_Del_p.L212fs	p.L212fs	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			5	634	-			212					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Frame_Shift_Del	DEL	ENST00000455511.3	37	c.634delC	CCDS9145.2																																																																																				0.473	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		11	16						11	16	---	---	---	---	-	110825686	G	-	110825686	7	5	79	1	0	1	0	1	0	0	0	0	606	1000	35	0	1197	0	ANAPC7	12	110825686	Frame_Shift_Del	DEL	G	TCGA-RW-A688-01A-11D-A35D-08	94308845	110825686	23026209	9	1510										
KIAA1409	57578	broad.mit.edu	37	chr14	94110024	94110024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	cagccccgctgctgctggatAtcatgcagtctgtgggaagg	14	11	2	0	rs192563227		TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr14:94110024A>G	ENST00000393151.2	+	35	6142	c.6142A>G	c.(6142-6144)Atc>Gtc	p.I2048V	UNC79_ENST00000256339.4_Missense_Mutation_p.I1871V|UNC79_ENST00000555664.1_Missense_Mutation_p.I2009V|UNC79_ENST00000553484.1_Missense_Mutation_p.I2070V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2048					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGCTGGATATCATGCAGTC	0.458													A|||	1	0.000199681	8e-04	0	5008	,	,		20448	0		0	False		,,,				2504	0					ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(6208-6210)Atc>Gtc		unc-79 homolog (C. elegans)							143	130	135					14																	94110024		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94110024A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6142A>G	14.37:g.94110024A>G	ENSP00000376858:p.Ile2048Val					UNC79_ENST00000555664.1_Missense_Mutation_p.I2009V|UNC79_ENST00000393151.2_Missense_Mutation_p.I2048V|UNC79_ENST00000256339.4_Missense_Mutation_p.I1871V	p.I2070V			Q9P2D8	UNC79_HUMAN			36	6362	+			2048					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6208A>G		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	22.8	4.332284	0.81801	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.72118	2.19	0.53688	D	0.999972	B	0.31837	0.342	P	0.54026	0.74	T	0.59799	-0.7386	10	0.51188	T	0.08	-20.2907	16.2526	0.82494	1.0:0.0:0.0:0.0	.	2070	C9JQL1	.	V	1871;2009;2070;2048;2070	ENSP00000256339:I1871V;ENSP00000450868:I2009V;ENSP00000451360:I2070V;ENSP00000376858:I2048V	ENSP00000256339:I1871V	I	+	1	0	KIAA1409	93179777	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	9.339000	0.96797	2.241000	0.73720	0.482000	0.46254	ATC		0.458	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		42	45	0	0	0	1	0	42	45					G	94110024	A	G	94110024	3	3	79	1	0	0	0	0	1	0	0	0	8230	449	16	4	5737	4	KIAA1409	14	94110024	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		94110024	13239516	10	1511										
DENND4A	10260	broad.mit.edu	37	chr15	65962141	65962141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	ttagatcaaaattcccttgaAcagagagagcagatgtgtca	9	7	2	5			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr15:65962141A>C	ENST00000431932.2	-	26	4839	c.4631T>G	c.(4630-4632)gTt>gGt	p.V1544G	DENND4A_ENST00000443035.3_Missense_Mutation_p.V1587G	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1544					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCCCTTGAACAGAGAGAGC	0.338																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(4759-4761)gTt>gGt		DENN/MADD domain containing 4A							89	82	84					15																	65962141		1861	4108	5969	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65962141A>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4631T>G	15.37:g.65962141A>C	ENSP00000396830:p.Val1544Gly					DENND4A_ENST00000431932.2_Missense_Mutation_p.V1544G	p.V1587G	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			27	4975	-			1544					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4760T>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	9.134	1.012126	0.19277	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05199	3.48;3.48	5.64	3.31	0.37934	.	1.201840	0.05779	N	0.608229	T	0.06050	0.0157	L	0.44542	1.39	0.53005	D	0.999965	P;B	0.35077	0.483;0.146	B;B	0.27887	0.084;0.038	T	0.36138	-0.9760	10	0.23302	T	0.38	.	5.7442	0.18110	0.7105:0.1406:0.149:0.0	.	1587;1544	E7EPL3;Q7Z401	.;MYCPP_HUMAN	G	1587;1544	ENSP00000391167:V1587G;ENSP00000396830:V1544G	ENSP00000396830:V1544G	V	-	2	0	DENND4A	63749195	1.000000	0.71417	0.983000	0.44433	0.841000	0.47740	2.232000	0.43018	0.980000	0.38523	0.528000	0.53228	GTT		0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		8	5	0	0	0	1	0	8	5					C	65962141	A	C	65962141	3	2	79	1	0	0	0	0	1	0	0	0	4433	43	2	5	988	5	DENND4A	15	65962141	Missense_Mutation	SNP	A	TCGA-RW-A688-01A-11D-A35D-08		65962141	36569251	11	1512										
NF1	4763	broad.mit.edu	37	chr17	29496993	29496993	+	Frame_Shift_Del	DEL	A	A	-													0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	tatatcaatgtggattgtgcAaaattaaaacgactcctgaa							TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:29496993delA	ENST00000358273.4	+	5	947	c.564delA	c.(562-564)gcafs	p.A188fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	188					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGATTGTGCAAAATTAAAAC	0.279			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(562-564)gcfs		neurofibromin 1							79	79	79					17																	29496993		2203	4298	6501	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29496993delA		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.564delA	17.37:g.29496993delA	ENSP00000351015:p.Ala188fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Del_p.A188fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.A188fs	p.A188fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	5	947	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	188					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.564delA	CCDS42292.1																																																																																				0.279	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	7						10	7	---	---	---	---	-	29496993	A	-	29496993	7	5	79	1	0	1	0	1	0	0	0	0	10356	117	5	0	582	0	NF1	17	29496993	Frame_Shift_Del	DEL	A	TCGA-RW-A688-01A-11D-A35D-08		29496993	51698217	12	1513										
BPTF	2186	broad.mit.edu	37	chr17	65850649	65850649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	gtcacaaacttggggatttgCtttgctgtgagacatgttca	11	7	2	1			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr17:65850649C>T	ENST00000321892.4	+	2	1268	c.1207C>T	c.(1207-1209)Ctt>Ttt	p.L403F	BPTF_ENST00000335221.5_Missense_Mutation_p.L403F|BPTF_ENST00000306378.6_Missense_Mutation_p.L403F|BPTF_ENST00000424123.3_Missense_Mutation_p.L264F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	403					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGGGATTTGCTTTGCTGTGA	0.453																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1207-1209)Ctt>Ttt		bromodomain PHD finger transcription factor							292	276	281					17																	65850649		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65850649C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1207C>T	17.37:g.65850649C>T	ENSP00000315454:p.Leu403Phe					BPTF_ENST00000424123.3_Missense_Mutation_p.L264F|BPTF_ENST00000306378.6_Missense_Mutation_p.L403F|BPTF_ENST00000335221.5_Missense_Mutation_p.L403F	p.L403F			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1268	+	all_cancers(12;6e-11)		403					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1207C>T		.	.	.	.	.	.	.	.	.	.	C	18.15	3.558812	0.65538	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.55234	0.53;0.53;0.53	5.62	5.62	0.85841	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.79969	0.4538	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.84040	0.0364	9	0.87932	D	0	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	403;403;403	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	F	308;403;403;403;264	ENSP00000307208:L403F;ENSP00000334351:L403F;ENSP00000315454:L403F	ENSP00000307208:L403F	L	+	1	0	BPTF	63281111	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	CTT		0.453	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	129	0	0	0	1	0	4	129					T	65850649	C	T	65850649	3	4	79	1	0	0	0	0	1	0	0	0	1495	797	28	3	1213	3	BPTF	17	65850649	Missense_Mutation	SNP	C	TCGA-RW-A688-01A-11D-A35D-08	36353656	65850649	15344561	13	1514										
RBM42	79171	broad.mit.edu	37	chr19	36124121	36124121	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	gctcgggctccagggcccccGctgggctccatggctgcact	14	17	0	0			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr19:36124121G>T	ENST00000262633.4	+	6	756	c.651G>T	c.(649-651)ccG>ccT	p.P217P	RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000589559.1_Silent_p.P188P|RBM42_ENST00000360475.4_Silent_p.P188P	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	217	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGGGCCCCCGCTGGGCTCCA	0.687																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(649-651)ccG>ccT		RNA binding motif protein 42							43	53	50					19																	36124121		2195	4297	6492	SO:0001819	synonymous_variant	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36124121G>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.651G>T	19.37:g.36124121G>T						RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.P195P|RBM42_ENST00000588161.1_Silent_p.P187P|RBM42_ENST00000592202.1_Silent_p.P163P|RBM42_ENST00000360475.4_Silent_p.P188P|RBM42_ENST00000589559.1_Silent_p.P188P	p.P217P	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	756	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		217			Pro-rich.		O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	c.651G>T	CCDS12468.1																																																																																				0.687	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		22	31	1	0	8.04996e-18	1	9.96661e-18	22	31					T	36124121	G	T	36124121	2	4	79	1	0	0	0	0	0	0	0	1	13136	1074	38	5		5	RBM42	19	36124121	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		36124121	23004862	14	1515										
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978263	45978263	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	cagacaggcttgcagcagacGggcacacagcagactggctt	13	12	0	3			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr21:45978263G>T	ENST00000391620.1	-	1	380	c.336C>A	c.(334-336)ccC>ccA	p.P112P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	112	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						tgcagcagacgggcacacagc	0.647																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(334-336)ccC>ccA		keratin associated protein 10-3							140	138	139					21																	45978263		2203	4300	6503	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978263G>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.336C>A	21.37:g.45978263G>T						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P112P	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	380	-			112			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.336C>A	CCDS42956.1																																																																																				0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			7	125	1	0	1.76689e-08	1	1.99736e-08	7	125					T	45978263	G	T	45978263	2	4	79	1	0	0	0	0	0	0	0	1	8510	1103	39	5		5	KRTAP10-3	21	45978263	Silent	SNP	G	TCGA-RW-A688-01A-11D-A35D-08		45978263	2151632	15	1516										
TFIP11	24144	broad.mit.edu	37	chr22	26890809	26890809	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	tttcaagaagtcccaccaggCtagagacagagatcatccct	8	12	2	3			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chr22:26890809C>A	ENST00000407690.1	-	13	2229	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	649					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCCACCAGGCTAGAGACAGA	0.502																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1945-1947)aGc>aTc		tuftelin interacting protein 11							112	94	100					22																	26890809		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26890809C>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1946G>T	22.37:g.26890809C>A	ENSP00000384421:p.Ser649Ile					TFIP11_ENST00000407148.1_Missense_Mutation_p.S649I|TFIP11_ENST00000405938.1_Missense_Mutation_p.S649I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S649I	p.S649I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			13	2229	-			649					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1946G>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887785	0.52014	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.43	5.43	0.79202	GC-rich sequence DNA-binding factor domain (1);	0.077604	0.85682	D	0.000000	T	0.55481	0.1923	L	0.45228	1.405	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.37056	-0.9722	10	0.16420	T	0.52	-42.2131	18.4159	0.90570	0.0:1.0:0.0:0.0	.	649	Q9UBB9	TFP11_HUMAN	I	649;649;649;334;649	ENSP00000384421:S649I;ENSP00000383892:S649I;ENSP00000385861:S649I;ENSP00000384297:S649I	ENSP00000384297:S649I	S	-	2	0	TFIP11	25220809	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.485000	0.66850	2.823000	0.97156	0.650000	0.86243	AGC		0.502	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		3	32	1	0	1	1	1	3	32					A	26890809	C	A	26890809	3	1	79	1	0	0	0	0	1	0	0	0	15804	797	28	5	579	5	TFIP11	22	26890809	Missense_Mutation	SNP	C	TCGA-RW-A688-01A-11D-A35D-08		26890809	24413757	16	1517										
MED12	9968	broad.mit.edu	37	chrX	70350001	70350001	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	cagctcatttgctatccacaTcgactgctggacaatgagga	9	11	1	1			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:70350001T>A	ENST00000374080.3	+	28	4016	c.3984T>A	c.(3982-3984)caT>caA	p.H1328Q	MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q|MED12_ENST00000333646.6_Missense_Mutation_p.H1328Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1328					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTATCCACATCGACTGCTGG	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3982-3984)caT>caA		mediator complex subunit 12							46	43	44					X																	70350001		2021	4175	6196	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70350001T>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3984T>A	X.37:g.70350001T>A	ENSP00000363193:p.His1328Gln					MED12_ENST00000374102.1_Missense_Mutation_p.H1328Q|MED12_ENST00000374080.3_Missense_Mutation_p.H1328Q|MED12_ENST00000478889.1_Intron	p.H1328Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			28	4183	+	Renal(35;0.156)		1328					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3984T>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454787	0.63290	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;1.5	4.93	2.58	0.30949	.	0.051720	0.85682	D	0.000000	D	0.82779	0.5111	L	0.58101	1.795	0.50313	D	0.999868	P;P;P;P	0.52316	0.94;0.786;0.952;0.901	P;B;P;P	0.54499	0.583;0.407;0.754;0.476	T	0.80171	-0.1493	10	0.52906	T	0.07	-16.654	4.8897	0.13721	0.0:0.4664:0.0:0.5336	.	1328;1175;1328;1328	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1328;1328;1328;1328;1296;73	ENSP00000333125:H1328Q;ENSP00000363215:H1328Q;ENSP00000363193:H1328Q;ENSP00000414203:H1296Q;ENSP00000408388:H73Q	ENSP00000333125:H1328Q	H	+	3	2	MED12	70266726	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.820000	0.27323	0.805000	0.34159	0.441000	0.28932	CAT		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	8	0	0	0	1	0	13	8					A	70350001	T	A	70350001	3	1	79	1	0	0	0	0	1	0	0	0	9428	1432	50	5	4094	5	MED12	23	70350001	Missense_Mutation	SNP	T	TCGA-RW-A688-01A-11D-A35D-08		70350001	84920559	17	1518										
ERCC6L	54821	broad.mit.edu	37	chrX	71425181	71425181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	agacagtgtttctccggaagGatcctcttctgtatacttgg	10	9	3	1			TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:71425181G>T	ENST00000334463.3	-	2	3571	c.3436C>A	c.(3436-3438)Cct>Act	p.P1146T	ERCC6L_ENST00000373657.1_Missense_Mutation_p.P1023T|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1146					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTCCGGAAGGATCCTCTTCT	0.502																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3067-3069)Cct>Act		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							102	91	95					X																	71425181		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425181G>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3436C>A	X.37:g.71425181G>T	ENSP00000334675:p.Pro1146Thr					PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P1146T	p.P1023T			Q2NKX8	ERC6L_HUMAN			3	3669	-	Renal(35;0.156)		1146					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.3067C>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312147	0.40895	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.92099	-2.94;-2.97	5.58	5.58	0.84498	.	.	.	.	.	D	0.92011	0.7469	L	0.53249	1.67	0.09310	N	1	D	0.54601	0.967	P	0.47346	0.544	D	0.87125	0.2193	9	0.72032	D	0.01	-1.2698	15.8191	0.78626	0.0:0.0:1.0:0.0	.	1146	Q2NKX8	ERC6L_HUMAN	T	1023;1146	ENSP00000362761:P1023T;ENSP00000334675:P1146T	ENSP00000334675:P1146T	P	-	1	0	ERCC6L	71341906	1.000000	0.71417	0.006000	0.13384	0.049000	0.14656	2.944000	0.49034	2.333000	0.79357	0.600000	0.82982	CCT		0.502	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		24	24	1	0	6.44725e-10	1	7.61948e-10	24	24					T	71425181	G	T	71425181	3	4	79	1	0	0	0	0	1	0	0	0	5218	1174	41	5	320	5	ERCC6L	23	71425181	Missense_Mutation	SNP	G	TCGA-RW-A688-01A-11D-A35D-08	1075180	71425181	83845379	18	1519										
AMMECR1	9949	broad.mit.edu	37	chrX	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-													0.0555555555555556	1	1	1.67441860465116	3.34883720930233	0	1	1	0	tggctctctccgctgcagtgGgaggaggaggaggcgccacc							TCGA-RW-A688-01A-11D-A35D-08	TCGA-RW-A688-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32002a4c-c9a3-4ab1-a6cc-695063869c70	5307bd9a-86ad-4e6d-966c-b36eb7876991	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)tccdel	p.S31del	AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.68																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(91-93)del		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	2,55,3416		0,0,1,1,5,34,11,1461,459					,,	4.6	1			8	1,159,5901		0,0,1,0,5,91,58,2161,1487	no	codingComplex,intron,codingComplex	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	0,0,2,1,10,125,69,3622,1946	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.6398,1.6412,2.2761	,,	,,		3,214,9317				SO:0001651	inframe_deletion	9949							g.chrX:109561207_109561209delGGA	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.91_93delTCC	X.37:g.109561216_109561218delGGA	ENSP00000262844:p.Ser31del					AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	258_260	-			31			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.91_93delTCC	CCDS14551.1																																																																																				0.68	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			3	5						3	5	---	---	---	---	-	109561209	GGA	-	109561207	7	5	79	1	0	1	0	1	0	0	0	0	578	1219	43	0	932	0	AMMECR1	23	109561207	In_Frame_Del	DEL	GGA	TCGA-RW-A688-01A-11D-A35D-08	38136026	109561207	45709353	19	1520										
SEC22B	9554	broad.mit.edu	37	chr1	145109547	145109547	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	cattattgagcagggggtgtGtgatttggttttatgtgaag	15	2	0	3			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:145109547G>T	ENST00000453618.1	+	0	536							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGGGGGTGTGTGATTTGGTT	0.403																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							350	339	342					1																	145109547		2038	4194	6232			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109547G>T	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109547G>T										O75396	SC22B_HUMAN			0	536	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.403	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		9	206	1	0	0.000274275	1	0.000274275	9	206					T	145109547	G	T	145109547	1	4	80	0	1	0	0	0	0	0	0	0	13989	1377	48	5		5	SEC22B	1	145109547	RNA	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		145109547	104141074	1	1521										
OAZ3	51686	broad.mit.edu	37	chr1	151739705	151739705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tgcctccagtgctcctgagtCcctagtaggcctccaggagg	12	14	0	1			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:151739705C>T	ENST00000321531.5	+	3	265	c.98C>T	c.(97-99)tCc>tTc	p.S33F	OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000315067.8_Missense_Mutation_p.S33F|RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	78					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	GCTCCTGAGTCCCTAGTAGGC	0.512																																						ENST00000321531.5																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9						c.(97-99)tCc>tTc		ornithine decarboxylase antizyme 3	L-Ornithine(DB00129)						113	116	115					1																	151739705		1917	4120	6037	SO:0001583	missense	51686				cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	g.chr1:151739705C>T	AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.98C>T	1.37:g.151739705C>T	ENSP00000313922:p.Ser33Phe					RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.S46F|OAZ3_ENST00000315067.8_Missense_Mutation_p.S33F|OAZ3_ENST00000577465.1_3'UTR	p.S33F			Q9UMX2	OAZ3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	265	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		30					E7EUE7|Q6GMR0	Missense_Mutation	SNP	ENST00000321531.5	37	c.98C>T	CCDS58028.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414280	0.62511	.	.	ENSG00000143450	ENST00000315067;ENST00000321531	T	0.35421	1.31	5.43	3.52	0.40303	.	0.366741	0.23949	N	0.042964	T	0.21550	0.0519	M	0.63843	1.955	0.33982	D	0.648068	B;P	0.52842	0.001;0.956	B;P	0.44732	0.003;0.459	T	0.12142	-1.0559	10	0.87932	D	0	-14.6055	6.5457	0.22404	0.1782:0.7322:0.0:0.0896	.	13;30	D3DV23;Q9UMX2	.;OAZ3_HUMAN	F	33;77	ENSP00000357820:S33F	ENSP00000357820:S33F	S	+	2	0	OAZ3	150006329	0.685000	0.27652	0.998000	0.56505	0.763000	0.43281	0.695000	0.25527	0.820000	0.34516	0.655000	0.94253	TCC		0.512	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276842.3	NM_016178		7	75	0	0	0	1	0	7	75					T	151739705	C	T	151739705	3	4	80	1	0	0	0	0	1	0	0	0	10806	855	30	3	276	3	OAZ3	1	151739705	Missense_Mutation	SNP	C	TCGA-RW-A689-01A-11D-A35D-08	6630158	151739705	97510916	2	1522										
CHRNB2	1141	broad.mit.edu	37	chr1	154548321	154548321	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tttgtctgtgtctttggcacCatcggcatgttcctgcagcc	10	12	2	0			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr1:154548321C>A	ENST00000368476.3	+	6	1686	c.1422C>A	c.(1420-1422)acC>acA	p.T474T		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	474					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TCTTTGGCACCATCGGCATGT	0.567																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(1420-1422)acC>acA		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						335	242	274					1																	154548321		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154548321C>A	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1422C>A	1.37:g.154548321C>A							p.T474T	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1686	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		474					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.1422C>A	CCDS1070.1																																																																																				0.567	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		4	95	1	0	3.59834e-05	1	3.73161e-05	4	95					A	154548321	C	A	154548321	2	1	80	1	0	0	0	0	0	0	0	1	3391	581	21	5		5	CHRNB2	1	154548321	Silent	SNP	C	TCGA-RW-A689-01A-11D-A35D-08	2808616	154548321	94702300	3	1523										
INPP4A	3631	broad.mit.edu	37	chr2	99170841	99170841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tccaaggcctctcccacttcGactgaggaggagcaggtgat	12	12	1	2	rs374359971		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr2:99170841G>A	ENST00000523221.1	+	14	1470	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	INPP4A_ENST00000409540.3_Silent_p.S490S|INPP4A_ENST00000074304.5_Silent_p.S490S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Silent_p.S490S|INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000545415.1_Silent_p.S490S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	490					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTCCCACTTCGACTGAGGAGG	0.602																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1468-1470)tcG>tcA		inositol polyphosphate-4-phosphatase, type I, 107kDa							52	56	55					2																	99170841		2177	4274	6451	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99170841G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1470G>A	2.37:g.99170841G>A						INPP4A_ENST00000409540.3_Silent_p.S490S|INPP4A_ENST00000409851.3_Silent_p.S485S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.S490S|INPP4A_ENST00000409016.3_Silent_p.S490S|INPP4A_ENST00000523221.1_Silent_p.S490S	p.S490S	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			16	1863	+			490					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.1470G>A	CCDS46369.1																																																																																				0.602	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		10	15	0	0	0	1	0	10	15					A	99170841	G	A	99170841	2	1	80	1	0	0	0	0	0	0	0	1	7752	1045	37	2		2	INPP4A	2	99170841	Silent	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		99170841	144028532	4	1524										
CMYA5	202333	broad.mit.edu	37	chr5	79032506	79032506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	agactttcctgccggtggctCtttcttgtcgtgatgaaata	10	9	2	3			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr5:79032506C>G	ENST00000446378.2	+	2	7949	c.7918C>G	c.(7918-7920)Ctt>Gtt	p.L2640V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2640					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCGGTGGCTCTTTCTTGTCG	0.413																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7918-7920)Ctt>Gtt		cardiomyopathy associated 5							49	51	50					5																	79032506		1810	4079	5889	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032506C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7918C>G	5.37:g.79032506C>G	ENSP00000394770:p.Leu2640Val						p.L2640V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7949	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2640					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7918C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388592	0.25118	.	.	ENSG00000164309	ENST00000446378	T	0.38887	1.11	4.15	1.22	0.21188	.	.	.	.	.	T	0.34135	0.0887	N	0.17082	0.46	0.09310	N	1	D	0.63880	0.993	P	0.55923	0.787	T	0.11060	-1.0603	9	0.42905	T	0.14	.	3.3664	0.07204	0.2025:0.5714:0.0:0.2261	.	2640	Q8N3K9	CMYA5_HUMAN	V	2640	ENSP00000394770:L2640V	ENSP00000394770:L2640V	L	+	1	0	CMYA5	79068262	0.594000	0.26849	0.032000	0.17829	0.069000	0.16628	1.407000	0.34657	0.198000	0.20407	0.393000	0.25936	CTT		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		15	26	0	0	0	1	0	15	26					G	79032506	C	G	79032506	3	3	80	1	0	0	0	0	1	0	0	0	3590	913	32	5	7924	5	CMYA5	5	79032506	Missense_Mutation	SNP	C	TCGA-RW-A689-01A-11D-A35D-08		79032506	101882754	5	1525										
KLHL7	55975	broad.mit.edu	37	chr7	23207596	23207596	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tgtttgtggtggaagtttagGaaacaatgtttctgggagag	15	2	1	1			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr7:23207596G>T	ENST00000339077.5	+	9	1562	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V	KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V|KLHL7_ENST00000322231.7_Missense_Mutation_p.G418V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	440					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGAAGTTTAGGAAACAATGTT	0.423																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1252-1254)gGa>gTa		kelch-like family member 7							151	147	148					7																	23207596		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207596G>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1319G>T	7.37:g.23207596G>T	ENSP00000343273:p.Gly440Val					KLHL7_ENST00000409689.1_Missense_Mutation_p.G392V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G364V|KLHL7_ENST00000542558.1_Missense_Mutation_p.G215V|KLHL7_ENST00000339077.4_Missense_Mutation_p.G440V|KLHL7_ENST00000545443.1_Missense_Mutation_p.G418V	p.G418V			Q8IXQ5	KLHL7_HUMAN			10	1743	+			440					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.1253G>T	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994336	0.93167	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.963	D	0.92698	0.6172	10	0.87932	D	0	.	19.813	0.96554	0.0:0.0:1.0:0.0	.	440;418	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	V	281;418;440;364;215;392;418	ENSP00000322958:G418V;ENSP00000343273:G440V;ENSP00000441136:G364V;ENSP00000442367:G215V;ENSP00000386263:G392V;ENSP00000442366:G418V	ENSP00000322958:G418V	G	+	2	0	KLHL7	23174121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.683000	0.91414	0.591000	0.81541	GGA		0.423	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		25	51	1	0	3.01185e-09	1	3.6666e-09	25	51					T	23207596	G	T	23207596	3	4	80	1	0	0	0	0	1	0	0	0	8394	1174	41	5	1416	5	KLHL7	7	23207596	Missense_Mutation	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		23207596	135931067	6	1526										
ANO3	63982	broad.mit.edu	37	chr11	26677925	26677925	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tgtttttgtggatttcaggtAcagagactacagaggcccgc	12	8	1	2			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr11:26677925A>G	ENST00000256737.3	+	26	3512	c.2660A>G	c.(2659-2661)tAc>tGc	p.Y887C	ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C|ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	887					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GATTTCAGGTACAGAGACTAC	0.388																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(2659-2661)tAc>tGc		anoctamin 3							128	129	129					11																	26677925		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26677925A>G	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2660A>G	11.37:g.26677925A>G	ENSP00000256737:p.Tyr887Cys					ANO3_ENST00000537978.1_Missense_Mutation_p.Y871C|ANO3_ENST00000525139.1_Missense_Mutation_p.Y871C|ANO3_ENST00000531568.1_Missense_Mutation_p.Y741C	p.Y887C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			26	3512	+			887					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2660A>G	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099000	0.76870	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	D;D;D;D	0.86030	-2.05;-2.05;-2.06;-1.85	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95644	0.8701	10	0.87932	D	0	.	15.491	0.75605	1.0:0.0:0.0:0.0	.	789;887	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	C	871;871;887;789;741	ENSP00000440737:Y871C;ENSP00000432576:Y871C;ENSP00000256737:Y887C;ENSP00000432394:Y741C	ENSP00000256737:Y887C	Y	+	2	0	ANO3	26634501	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.335000	0.96500	2.056000	0.61249	0.528000	0.53228	TAC		0.388	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		6	73	0	0	0	1	0	6	73					G	26677925	A	G	26677925	3	3	80	1	0	0	0	0	1	0	0	0	698	391	14	4	2762	4	ANO3	11	26677925	Missense_Mutation	SNP	A	TCGA-RW-A689-01A-11D-A35D-08		26677925	108328591	7	1527										
BCL2L14	79370	broad.mit.edu	37	chr12	12240321	12240321	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	agcttcaagttctaagaaagGtaagctttccttccctgggt	9	9	2	1			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:12240321G>A	ENST00000308721.5	+	3	813		c.e3+1		BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site|BCL2L14_ENST00000266434.4_Splice_Site|BCL2L14_ENST00000396367.1_Splice_Site|BCL2L14_ENST00000589718.1_Splice_Site	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)						apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TCTAAGAAAGGTAAGCTTTCC	0.532																																						ENST00000266434.4																			0				large_intestine(1)|lung(2)|skin(3)	6						c.e3+1		BCL2-like 14 (apoptosis facilitator)							103	106	105					12																	12240321		2203	4300	6503	SO:0001630	splice_region_variant	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12240321G>A	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.607+1G>A	12.37:g.12240321G>A						BCL2L14_ENST00000308721.5_Splice_Site|BCL2L14_ENST00000586576.1_Splice_Site|BCL2L14_ENST00000589718.1_Splice_Site|BCL2L14_ENST00000396369.1_Splice_Site|BCL2L14_ENST00000396367.1_Splice_Site		NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	3	802	+		Prostate(47;0.0872)						A8KAD0|Q96QR5|Q9BZR7	Splice_Site	SNP	ENST00000308721.5	37		CCDS8645.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255525	0.80135	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.627	0.45512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCL2L14	12131588	1.000000	0.71417	0.994000	0.49952	0.906000	0.53458	2.332000	0.43903	2.224000	0.72417	0.655000	0.94253	.		0.532	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766	Intron	5	60	0	0	0	1	0	5	60					A	12240321	G	A	12240321	5	1	80	1	0	0	0	0	0	0	1	0	1372	1275	44	3	614	3	BCL2L14	12	12240321	Splice_Site	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		12240321	121611574	8	1528										
RSRC2	65117	broad.mit.edu	37	chr12	122990196	122990196	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tcgaaatacttcttcctgctGcttcagagtcttgtaacttt	6	10	3	1			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr12:122990196G>A	ENST00000331738.7	-	10	1328	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	395							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTTCCTGCTGCTTCAGAGTC	0.373																																						ENST00000331738.7																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(1183-1185)Cag>Tag		arginine/serine-rich coiled-coil 2							147	129	135					12																	122990196		2203	4300	6503	SO:0001587	stop_gained	65117							g.chr12:122990196G>A	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.1183C>T	12.37:g.122990196G>A	ENSP00000330188:p.Gln395*					RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q347*	p.Q395*	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	10	1328	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		395					Q6N040|Q6NW16|Q9H864	Nonsense_Mutation	SNP	ENST00000331738.7	37	c.1183C>T	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367095	0.95900	.	.	ENSG00000111011	ENST00000331738;ENST00000354654	.	.	.	6.04	6.04	0.98038	.	0.048027	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6396	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	395;347	.	ENSP00000330188:Q395X	Q	-	1	0	RSRC2	121556149	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.750000	0.68712	2.881000	0.98747	0.650000	0.86243	CAG		0.373	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		33	51	0	0	0	1	0	33	51					A	122990196	G	A	122990196	4	1	80	1	0	0	0	0	0	1	0	0	13715	1328	46	3	125	3	RSRC2	12	122990196	Nonsense_Mutation	SNP	G	TCGA-RW-A689-01A-11D-A35D-08	110749875	122990196	10861699	9	1529										
CDT1	353	broad.mit.edu	37	chr16	88874571	88874571	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	ctccgagctgctgccggactGgctcagcctccaccgcatcc	10	19	1	0			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr16:88874571G>C	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Missense_Mutation_p.W509S	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CTGCCGGACTGGCTCAGCCTC	0.672																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1525-1527)tGg>tCg		chromatin licensing and DNA replication factor 1							48	36	40					16																	88874571		2195	4297	6492	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88874571G>C		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88874571G>C							p.W509S	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	10	2145	+			509					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.1526G>C	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098140	0.56183	.	.	ENSG00000167513	ENST00000301019	T	0.79247	-1.25	5.54	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.89026	0.6598	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90856	0.4735	10	0.87932	D	0	.	14.2365	0.65929	0.0725:0.0:0.9275:0.0	.	509	Q9H211	CDT1_HUMAN	S	509	ENSP00000301019:W509S	ENSP00000301019:W509S	W	+	2	0	CDT1	87402072	1.000000	0.71417	0.993000	0.49108	0.047000	0.14425	8.647000	0.91057	1.343000	0.45638	0.563000	0.77884	TGG		0.672	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	22	0	0	0	1	0	4	22					C	88874571	G	C	88874571	1	2	80	0	1	0	0	0	0	0	0	0	3180	1357	47	5		5	CDT1	16	88874571	IGR	SNP	G	TCGA-RW-A689-01A-11D-A35D-08		88874571	1480182	10	1530										
NF1	4763	broad.mit.edu	37	chr17	29588743	29588743	+	Frame_Shift_Del	DEL	T	T	-													0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	atctagggatcataaagctgTtggaagacgaccttttgata							TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr17:29588743delT	ENST00000358273.4	+	35	4975	c.4592delT	c.(4591-4593)gttfs	p.V1531fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1531					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATAAAGCTGTTGGAAGACGA	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4591-4593)gtfs		neurofibromin 1							122	107	112					17																	29588743		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29588743delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4592delT	17.37:g.29588743delT	ENSP00000351015:p.Val1531fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.V1510fs	p.V1531fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	35	4975	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1531					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4592delT	CCDS42292.1																																																																																				0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		46	22						46	22	---	---	---	---	-	29588743	T	-	29588743	7	5	80	1	0	1	0	1	0	0	0	0	10356	1725	60	0	4791	0	NF1	17	29588743	Frame_Shift_Del	DEL	T	TCGA-RW-A689-01A-11D-A35D-08		29588743	51606467	11	1531										
WNT9B	7484	broad.mit.edu	37	chr17	44952701	44952701	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	caaggacctgcgggcacgggCagacgcccacaatacccacg	12	16	0	1			TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr17:44952701C>A	ENST00000290015.2	+	3	622	c.569C>A	c.(568-570)gCa>gAa	p.A190E	WNT9B_ENST00000393461.2_Missense_Mutation_p.A190E	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	190					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGGGCACGGGCAGACGCCCAC	0.607																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(568-570)gCa>gAa		wingless-type MMTV integration site family, member 9B							48	41	43					17																	44952701		2202	4299	6501	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44952701C>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.569C>A	17.37:g.44952701C>A	ENSP00000290015:p.Ala190Glu					WNT9B_ENST00000290015.2_Missense_Mutation_p.A190E	p.A190E			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	622	+			190					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.569C>A	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861065	0.51482	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76316	-1.01;-1.01	4.91	-0.966	0.10320	.	0.532611	0.21403	N	0.075107	T	0.64702	0.2622	L	0.29908	0.895	0.25575	N	0.986856	P;P	0.40302	0.712;0.523	B;B	0.41440	0.357;0.16	T	0.60342	-0.7282	10	0.87932	D	0	.	8.4209	0.32700	0.0:0.3391:0.0:0.6609	.	190;190	E7EPC3;O14905	.;WNT9B_HUMAN	E	184;190;190	ENSP00000377105:A190E;ENSP00000290015:A190E	ENSP00000290015:A190E	A	+	2	0	WNT9B	42307700	0.996000	0.38824	0.142000	0.22268	0.956000	0.61745	2.179000	0.42528	0.014000	0.14944	0.462000	0.41574	GCA		0.607	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		9	11	1	0	2.17888e-05	1	2.44034e-05	9	11					A	44952701	C	A	44952701	3	1	80	1	0	0	0	0	1	0	0	0	17396	710	25	5	579	5	WNT9B	17	44952701	Missense_Mutation	SNP	C	TCGA-RW-A689-01A-11D-A35D-08	15363958	44952701	36242509	12	1532										
EMR3	84658	broad.mit.edu	37	chr19	14752291	14752291	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	1	1	1.12987012987013	3.95454545454545	0	1	1	0	tgggccaggaagaggcagagCgagagctgcagatgcagtga	18	7	0	5	rs190395132		TCGA-RW-A689-01A-11D-A35D-08	TCGA-RW-A689-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93918bc2-656a-4ea8-916a-361d7365c2ad	cab6cf4c-bb49-4543-8e1e-ea6b42497e1c	g.chr19:14752291C>T	ENST00000253673.5	-	10	1288	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	EMR3_ENST00000443157.2_Silent_p.S270S|EMR3_ENST00000599900.1_Silent_p.S181S|EMR3_ENST00000344373.4_Silent_p.S344S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	396					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGAGGCAGAGCGAGAGCTGCA	0.587													C|||	1	0.000199681	0	0	5008	,	,		20146	0.001		0	False		,,,				2504	0					ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1186-1188)tcG>tcA		egf-like module containing, mucin-like, hormone receptor-like 3							124	96	106					19																	14752291		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14752291C>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1188G>A	19.37:g.14752291C>T						EMR3_ENST00000344373.4_Silent_p.S344S|EMR3_ENST00000599900.1_Silent_p.S181S|EMR3_ENST00000443157.2_Silent_p.S270S	p.S396S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			10	1288	-			396						Silent	SNP	ENST00000253673.5	37	c.1188G>A	CCDS12315.1																																																																																				0.587	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		16	25	0	0	0	1	0	16	25					T	14752291	C	T	14752291	2	4	80	1	0	0	0	0	0	0	0	1	5106	755	27	1		1	EMR3	19	14752291	Silent	SNP	C	TCGA-RW-A689-01A-11D-A35D-08		14752291	44376692	13	1533										
BIRC6	57448	broad.mit.edu	37	chr2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gactgctgagatagtttatgCagccaccaccagtttgcggc	11	11	0	1			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13468-13470)gCa>gTa		baculoviral IAP repeat containing 6							74	73	73					2																	32819095		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32819095C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13469C>T	2.37:g.32819095C>T	ENSP00000393596:p.Ala4490Val						p.A4490V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			67	13603	+	Acute lymphoblastic leukemia(172;0.155)		4490					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13469C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330902	0.60853	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.51	5.51	0.81932	.	0.172283	0.51477	D	0.000085	T	0.68760	0.3036	L	0.40543	1.245	0.51482	D	0.999922	B	0.16603	0.018	B	0.14023	0.01	T	0.62153	-0.6914	10	0.30078	T	0.28	.	19.4294	0.94758	0.0:1.0:0.0:0.0	.	4490	Q9NR09	BIRC6_HUMAN	V	4490	ENSP00000393596:A4490V	ENSP00000393596:A4490V	A	+	2	0	BIRC6	32672599	1.000000	0.71417	0.833000	0.33012	0.991000	0.79684	4.753000	0.62183	2.579000	0.87056	0.650000	0.86243	GCA		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	39	0	0	0	1	0	3	39					T	32819095	C	T	32819095	3	4	81	1	0	0	0	0	1	0	0	0	1438	710	25	3	13735	3	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08		32819095	210380278	1	1534										
SPHKAP	80309	broad.mit.edu	37	chr2	228883669	228883669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagaaagtctccaatgctgCtgtaggtattaggccttgtt	10	9	1	1			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:228883669C>T	ENST00000392056.3	-	7	1947	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S634N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	634						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCAATGCTGCTGTAGGTATT	0.478																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1900-1902)aGc>aAc		SPHK1 interactor, AKAP domain containing							71	69	70					2																	228883669		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883669C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1901G>A	2.37:g.228883669C>T	ENSP00000375909:p.Ser634Asn					SPHKAP_ENST00000344657.5_Missense_Mutation_p.S634N	p.S634N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1947	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	634					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1901G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	5.347	0.249330	0.10130	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.51574	0.7;0.7	5.54	2.75	0.32379	.	0.468148	0.26377	N	0.024724	T	0.35189	0.0923	L	0.58101	1.795	0.28871	N	0.894965	B;P	0.40834	0.002;0.73	B;B	0.32980	0.002;0.156	T	0.29427	-1.0012	10	0.38643	T	0.18	.	6.1718	0.20421	0.0:0.6348:0.1498:0.2155	.	634;634	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	N	634	ENSP00000375909:S634N;ENSP00000339886:S634N	ENSP00000339886:S634N	S	-	2	0	SPHKAP	228591913	0.971000	0.33674	0.028000	0.17463	0.007000	0.05969	0.785000	0.26830	0.814000	0.34374	-0.872000	0.02987	AGC		0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		44	43	0	0	0	1	0	44	43					T	228883669	C	T	228883669	3	4	81	1	0	0	0	0	1	0	0	0	15047	797	28	3	3225	3	SPHKAP	2	228883669	Missense_Mutation	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08	196064574	228883669	14315704	2	1535										
HDAC4	9759	broad.mit.edu	37	chr2	239988460	239988460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acacatgcttccgaggcgtcGcaaatggcggtcaggtcgtg	14	11	1	0	rs199744642		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:239988460G>A	ENST00000345617.3	-	24	3737	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C	AC017028.3_ENST00000584260.1_RNA|AC017028.5_ENST00000582834.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.9_ENST00000581111.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.10_ENST00000579161.1_RNA|HDAC4_ENST00000543185.1_Silent_p.C566C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	982	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCGAGGCGTCGCAAATGGCGG	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		17120	0		0	False		,,,				2504	0					ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2944-2946)tgC>tgT		histone deacetylase 4							80	77	78					2																	239988460		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239988460G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2946C>T	2.37:g.239988460G>A						HDAC4_ENST00000543185.1_Silent_p.C566C	p.C982C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	24	3737	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	982			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2946C>T	CCDS2529.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.48	1.362474	0.24684	.	.	ENSG00000068024	ENST00000430200	.	.	.	4.21	-2.63	0.06133	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53892	-0.8374	4	.	.	.	.	11.2242	0.48873	0.576:0.0:0.424:0.0	.	.	.	.	V	73	.	.	A	-	2	0	HDAC4	239653397	0.152000	0.22762	0.990000	0.47175	0.960000	0.62799	-0.456000	0.06754	-0.401000	0.07644	-0.469000	0.05056	GCG		0.637	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		4	139	0	0	0	1	0	4	139					A	239988460	G	A	239988460	2	1	81	1	0	0	0	0	0	0	0	1	7009	1079	38	1		1	HDAC4	2	239988460	Silent	SNP	G	TCGA-RW-A68A-01A-11D-A35D-08	11104791	239988460	3210913	3	1536										
CCDC69	26112	broad.mit.edu	37	chr5	150563044	150563044	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	tgggagtgacaggggccagaGggaaggcaggcgaggcattg							TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr5:150563044delG	ENST00000355417.2	-	9	1019	c.845delC	c.(844-846)cctfs	p.P282fs	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	282										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGGCCAGAGGGAAGGCAGG	0.642																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(844-846)ctfs		coiled-coil domain containing 69							52	49	50					5																	150563044		2203	4300	6503	SO:0001589	frameshift_variant	26112							g.chr5:150563044delG		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.845delC	5.37:g.150563044delG	ENSP00000347586:p.Pro282fs					CCDC69_ENST00000521308.1_5'UTR	p.P282fs	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1019	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	282					A8K9X6	Frame_Shift_Del	DEL	ENST00000355417.2	37	c.845delC	CCDS4312.1																																																																																				0.642	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		2	4						2	4	---	---	---	---	-	150563044	G	-	150563044	7	5	81	1	0	1	0	1	0	0	0	0	2841	1000	35	0	49	0	CCDC69	5	150563044	Frame_Shift_Del	DEL	G	TCGA-RW-A68A-01A-11D-A35D-08		150563044	30352216	4	1537										
MUC17	140453	broad.mit.edu	37	chr7	100677614	100677614	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caactgctgaaggtaccagcAtaccaacctcgactcctagt	7	14	0	1			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr7:100677614A>C	ENST00000306151.4	+	3	2981	c.2917A>C	c.(2917-2919)Ata>Cta	p.I973L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	973	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGTACCAGCATACCAACCTC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2917-2919)Ata>Cta		mucin 17, cell surface associated							349	325	333					7																	100677614		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677614A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2917A>C	7.37:g.100677614A>C	ENSP00000302716:p.Ile973Leu						p.I973L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2981	+	Lung NSC(181;0.136)|all_lung(186;0.182)		973			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2917A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.904547	0.00512	.	.	ENSG00000169876	ENST00000306151	T	0.02236	4.38	1.08	-0.208	0.13185	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48581	-0.9023	9	0.07813	T	0.8	.	4.3811	0.11295	0.771:0.0:0.229:0.0	.	973	Q685J3	MUC17_HUMAN	L	973	ENSP00000302716:I973L	ENSP00000302716:I973L	I	+	1	0	MUC17	100464334	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.379000	0.02554	-0.044000	0.13491	0.113000	0.15668	ATA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		138	735	0	0	0	1	0	138	735					C	100677614	A	C	100677614	3	2	81	1	0	0	0	0	1	0	0	0	9974	217	8	5	2927	5	MUC17	7	100677614	Missense_Mutation	SNP	A	TCGA-RW-A68A-01A-11D-A35D-08		100677614	58461049	5	1538										
FBXW2	26190	broad.mit.edu	37	chr9	123550425	123550425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagatgcctgagctggactgCcccactcagactaatcaggt	11	12	2	3			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr9:123550425C>T	ENST00000608872.1	-	3	299	c.112G>A	c.(112-114)Gca>Aca	p.A38T	FBXW2_ENST00000340778.5_Missense_Mutation_p.A38T	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	38					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGCTGGACTGCCCCACTCAGA	0.443																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(112-114)Gca>Aca		F-box and WD repeat domain containing 2							60	59	59					9																	123550425		1866	4114	5980	SO:0001583	missense	26190				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123550425C>T	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.112G>A	9.37:g.123550425C>T	ENSP00000476369:p.Ala38Thr					FBXW2_ENST00000340778.5_Missense_Mutation_p.A38T	p.A38T	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			3	299	-			38					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.112G>A	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086282	0.76642	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.80214	0.29;-1.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	N	0.24115	0.695	0.80722	D	1	D;D;P	0.67145	0.996;0.97;0.948	D;P;P	0.79784	0.993;0.665;0.487	T	0.76386	-0.2978	10	0.12430	T	0.62	-5.565	17.887	0.88858	0.0:1.0:0.0:0.0	.	38;38;38	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	T	38	ENSP00000363036:A38T;ENSP00000341161:A38T	ENSP00000341161:A38T	A	-	1	0	FBXW2	122590246	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.820000	0.69250	2.824000	0.97209	0.655000	0.94253	GCA		0.443	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			3	65	0	0	0	1	0	3	65					T	123550425	C	T	123550425	3	4	81	1	0	0	0	0	1	0	0	0	5766	739	26	3	1276	3	FBXW2	9	123550425	Missense_Mutation	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08		123550425	17663006	6	1539										
ZNF365	22891	broad.mit.edu	37	chr10	64429987	64429987	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcaaattgacaatcatcgatTtgttgactgaacacctgtta	7	8	1	3			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr10:64429987T>C	ENST00000395251.1	+	7	911	c.577T>C	c.(577-579)Ttg>Ctg	p.L193L	ZNF365_ENST00000410046.3_Silent_p.L439L|ZNF365_ENST00000395249.1_Silent_p.L45L	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	193										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AATCATCGATTTGTTGACTGA	0.428																																						ENST00000410046.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1315-1317)Ttg>Ctg		zinc finger protein 365							267	264	265					10																	64429987		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64429987T>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.577T>C	10.37:g.64429987T>C						ZNF365_ENST00000395251.1_Silent_p.L193L|ZNF365_ENST00000395249.1_Silent_p.L45L	p.L439L	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN			8	1595	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		193						Silent	SNP	ENST00000395251.1	37	c.1315T>C	CCDS7265.1																																																																																				0.428	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		11	429	0	0	0	1	0	11	429					C	64429987	T	C	64429987	2	2	81	1	0	0	0	0	0	0	0	1	17866	1838	64	4		4	ZNF365	10	64429987	Silent	SNP	T	TCGA-RW-A68A-01A-11D-A35D-08		64429987	71104760	7	1540										
FGF7	2252	broad.mit.edu	37	chr15	49776572	49776572	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaccattacaacacatatgcAtcagctaaatggacacacaa	4	11	1	0			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.A152A(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC		fibroblast growth factor 7	Palifermin(DB00039)						55	53	54					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C						FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	p.A152A	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																				0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	97	0	0	0	1	0	3	97					C	49776572	A	C	49776572	2	2	81	1	0	0	0	0	0	0	0	1	5857	204	8	5		5	FGF7	15	49776572	Silent	SNP	A	TCGA-RW-A68A-01A-11D-A35D-08		49776572	52754820	8	1541										
FAM65C	140876	broad.mit.edu	37	chr20	49247340	49247340	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctccggcccacgacccccacGgcccctgtgtccccagggga	11	21	0	0	rs374881854		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr20:49247340G>A	ENST00000327979.2	-	2	456	c.45C>T	c.(43-45)gcC>gcT	p.A15A	FAM65C_ENST00000535356.1_Silent_p.A19A|FAM65C_ENST00000045083.2_Silent_p.A15A			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	15										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGACCCCCACGGCCCCTGTGT	0.657																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(43-45)gcC>gcT		family with sequence similarity 65, member C		G		0,4404		0,0,2202	28	23	25		45	-4.4	0.5	20		25	1,8599		0,1,4299	no	coding-synonymous	FAM65C	NM_080829.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		15/947	49247340	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	140876							g.chr20:49247340G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.45C>T	20.37:g.49247340G>A						FAM65C_ENST00000535356.1_Silent_p.A19A|FAM65C_ENST00000045083.2_Silent_p.A15A	p.A15A			Q96MK2	FA65C_HUMAN			2	456	-			15					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.45C>T	CCDS13431.2																																																																																				0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			11	14	0	0	0	1	0	11	14					A	49247340	G	A	49247340	2	1	81	1	0	0	0	0	0	0	0	1	5601	1103	39	2		2	FAM65C	20	49247340	Silent	SNP	G	TCGA-RW-A68A-01A-11D-A35D-08		49247340	13778180	9	1542										
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117404	46117404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgccagccggcttgctgcacCtcctccccctgccagcaggc	10	20	0	0			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr21:46117404C>T	ENST00000400365.3	+	1	318	c.288C>T	c.(286-288)acC>acT	p.T96T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	96	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTTGCTGCACCTCCTCCCCCT	0.657																																						ENST00000400365.3																			0				large_intestine(1)|lung(8)	9						c.(286-288)acC>acT		keratin associated protein 10-12							72	77	76					21																	46117404		2203	4296	6499	SO:0001819	synonymous_variant	386685					keratin filament		g.chr21:46117404C>T	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.288C>T	21.37:g.46117404C>T						TSPEAR_ENST00000323084.4_Intron	p.T96T	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	318	+			96			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Silent	SNP	ENST00000400365.3	37	c.288C>T	CCDS42967.1																																																																																				0.657	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		37	154	0	0	0	1	0	37	154					T	46117404	C	T	46117404	2	4	81	1	0	0	0	0	0	0	0	1	8508	668	24	3		3	KRTAP10-12	21	46117404	Silent	SNP	C	TCGA-RW-A68A-01A-11D-A35D-08		46117404	2012491	10	1543										
MAGOH	4116	broad.mit.edu	37	chr1	53692717	53692717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	tgtccacaccaatattcagtCtagattggtttaatcttgaa	6	8	3	2	rs200084732	byFrequency	TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	RP5-1024G6.7_ENST00000569869.1_RNA|MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		3	26	0	0	0	1	0	3	26					T	53692717	C	T	53692717	2	4	82	1	0	0	0	0	0	0	0	1	9194	924	32	3		3	MAGOH	1	53692717	Silent	SNP	C	TCGA-RW-A68B-01A-11D-A35D-08		53692717	195557904	1	1544										
F11R	50848	broad.mit.edu	37	chr1	160971131	160971131	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	agtgcactgtaacactgcccAatgccagggagcctaaggag	12	11	0	0			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr1:160971131A>G	ENST00000368026.6	-	2	351	c.77T>C	c.(76-78)tTg>tCg	p.L26S	F11R_ENST00000472573.1_5'Flank|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L26S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	26					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AACACTGCCCAATGCCAGGGA	0.542																																						ENST00000368026.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(76-78)tTg>tCg		F11 receptor							66	62	64					1																	160971131		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160971131A>G	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14685	protein-coding gene	gene with protein product		605721	"junctional adhesion molecule 1"	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.77T>C	1.37:g.160971131A>G	ENSP00000357005:p.Leu26Ser					F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.L26S	p.L26S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		2	351	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		26					B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.77T>C	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	A	8.165	0.790442	0.16258	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.58060	1.48;0.36;1.36	4.11	0.284	0.15701	.	0.528490	0.14443	N	0.319293	T	0.14657	0.0354	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B	0.26363	0.024;0.004;0.147;0.004;0.004	B;B;B;B;B	0.14023	0.009;0.006;0.01;0.006;0.006	T	0.16988	-1.0384	10	0.16420	T	0.52	.	2.6768	0.05083	0.5613:0.0:0.2328:0.206	.	30;26;26;26;26	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	S	26;26;26;26;30	ENSP00000357005:L26S;ENSP00000440812:L26S;ENSP00000394809:L30S	ENSP00000289779:L26S	L	-	2	0	F11R	159237755	0.000000	0.05858	0.014000	0.15608	0.045000	0.14185	-0.112000	0.10791	0.140000	0.18849	0.460000	0.39030	TTG		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		3	39	0	0	0	1	0	3	39					G	160971131	A	G	160971131	3	3	82	1	0	0	0	0	1	0	0	0	5338	131	5	4	858	4	F11R	1	160971131	Missense_Mutation	SNP	A	TCGA-RW-A68B-01A-11D-A35D-08	107278414	160971131	88279490	2	1545										
TUBA3E	112714	broad.mit.edu	37	chr2	130951512	130951512	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	cgagggtcacacttgaccatCtgattggctggctcgaagca	12	11	2	2			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr2:130951512C>T	ENST00000312988.7	-	4	1003	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	301					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACTTGACCATCTGATTGGCTG	0.602																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(901-903)caG>caA		tubulin, alpha 3e							154	130	138					2																	130951512		2203	4300	6503	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951512C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.903G>A	2.37:g.130951512C>T							p.Q301Q	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	1003	-	Colorectal(110;0.1)		301						Silent	SNP	ENST00000312988.7	37	c.903G>A	CCDS2158.1																																																																																				0.602	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	126	0	0	0	1	0	5	126					T	130951512	C	T	130951512	2	4	82	1	0	0	0	0	0	0	0	1	16745	912	32	3		3	TUBA3E	2	130951512	Silent	SNP	C	TCGA-RW-A68B-01A-11D-A35D-08		130951512	112247861	3	1546										
GABBR1	2550	broad.mit.edu	37	chr6	29574694	29574694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	ctcaatggtccggtgcagagGgtccacgatctgccagatgg	14	11	2	2			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr6:29574694G>A	ENST00000377034.4	-	18	2532	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S|GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	733					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CGGTGCAGAGGGTCCACGATC	0.587																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2197-2199)Cct>Tct		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						81	69	73					6																	29574694		1511	2709	4220	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574694G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2197C>T	6.37:g.29574694G>A	ENSP00000366233:p.Pro733Ser					GABBR1_ENST00000377012.4_Missense_Mutation_p.P616S|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.P671S|GABBR1_ENST00000355973.3_Missense_Mutation_p.P616S	p.P733S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			18	2532	-			733					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2197C>T	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.59|18.59	3.657559|3.657559	0.67586|0.67586	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	.|D;D;D;D	.|0.90261	.|-2.64;-2.64;-2.64;-2.64	4.35|4.35	4.35|4.35	0.52113|0.52113	.|GPCR, family 3, C-terminal (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.94142|0.94142	0.8121|0.8121	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.94948|0.94948	0.8097|0.8097	6|10	.|0.87932	.|D	.|0	-18.3535|-18.3535	14.7425|14.7425	0.69467|0.69467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|671;733;616	.|Q9UBS5-3;Q9UBS5;Q5SUJ9	.|.;GABR1_HUMAN;.	L|S	113|616;671;616;733	.|ENSP00000348248:P616S;ENSP00000366215:P671S;ENSP00000366211:P616S;ENSP00000366233:P733S	.|ENSP00000348248:P616S	P|P	-|-	2|1	0|0	GABBR1|GABBR1	29682673|29682673	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.344000|0.344000	0.29017|0.29017	9.240000|9.240000	0.95396|0.95396	2.121000|2.121000	0.65114|0.65114	0.563000|0.563000	0.77884|0.77884	CCC|CCT		0.587	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			15	33	0	0	0	1	0	15	33					A	29574694	G	A	29574694	3	1	82	1	0	0	0	0	1	0	0	0	6155	1232	43	3	712	3	GABBR1	6	29574694	Missense_Mutation	SNP	G	TCGA-RW-A68B-01A-11D-A35D-08		29574694	141540373	4	1547										
LRRC43	254050	broad.mit.edu	37	chr12	122674895	122674895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	caatgagaagcatctcttccGggggctcagcctcaatggcg	12	12	3	1	rs372232440		TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr12:122674895G>A	ENST00000339777.4	+	5	909	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	294	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CATCTCTTCCGGGGGCTCAGC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(880-882)cGg>cAg		leucine rich repeat containing 43		G	GLN/ARG,GLN/ARG	0,4176		0,0,2088	56	59	58		881,326	3	1	12		58	1,8411		0,1,4205	no	missense,missense	LRRC43	NM_001098519.1,NM_152759.4	43,43	0,1,6293	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	294/657,109/472	122674895	1,12587	2088	4206	6294	SO:0001583	missense	254050							g.chr12:122674895G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.881G>A	12.37:g.122674895G>A	ENSP00000344233:p.Arg294Gln					LRRC43_ENST00000425921.1_Missense_Mutation_p.R109Q	p.R294Q	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	5	909	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		294			LRRCT.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.881G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937277	0.52972	0.0	1.19E-4	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.57436	0.89;0.4;0.83	5.22	3.03	0.35002	.	0.288246	0.31685	N	0.007235	T	0.35451	0.0932	L	0.35723	1.085	0.29873	N	0.826688	P	0.43314	0.803	B	0.32724	0.151	T	0.32955	-0.9887	10	0.31617	T	0.26	-39.0798	11.6084	0.51045	0.1772:0.0:0.8228:0.0	.	294	Q8N309	LRC43_HUMAN	Q	109;294;165;109	ENSP00000438751:R109Q;ENSP00000344233:R294Q;ENSP00000416628:R109Q	ENSP00000289014:R165Q	R	+	2	0	LRRC43	121240848	0.996000	0.38824	0.998000	0.56505	0.974000	0.67602	0.724000	0.25954	1.218000	0.43458	0.561000	0.74099	CGG		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	58	0	0	0	1	0	4	58					A	122674895	G	A	122674895	3	1	82	1	0	0	0	0	1	0	0	0	9001	1116	39	2	899	2	LRRC43	12	122674895	Missense_Mutation	SNP	G	TCGA-RW-A68B-01A-11D-A35D-08		122674895	11177000	5	1548										
FBXO27	126433	broad.mit.edu	37	chr19	39522616	39522616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	gactggcagctgcgggcgagGtgcagcagcgcgcggccggt	20	12	0	0	rs201987206	byFrequency	TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr19:39522616G>A	ENST00000292853.4	-	2	371	c.252C>T	c.(250-252)caC>caT	p.H84H	FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	84						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGCGGGCGAGGTGCAGCAGCG	0.736													G|||	4	0.000798722	8e-04	0	5008	,	,		8313	0		0.003	False		,,,				2504	0					ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(250-252)caC>caT		F-box protein 27		G		1,4301		0,1,2150	8	9	9		252	-5.4	0	19		9	6,8340		0,6,4167	no	coding-synonymous	FBXO27	NM_178820.3		0,7,6317	AA,AG,GG		0.0719,0.0232,0.0553		84/284	39522616	7,12641	2151	4173	6324	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39522616G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.252C>T	19.37:g.39522616G>A						FBXO27_ENST00000600828.1_Silent_p.H84H|FBXO27_ENST00000509137.2_Silent_p.H84H	p.H84H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	371	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		84					Q96C87	Silent	SNP	ENST00000292853.4	37	c.252C>T	CCDS12527.1																																																																																				0.736	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			3	4	0	0	0	1	0	3	4					A	39522616	G	A	39522616	2	1	82	1	0	0	0	0	0	0	0	1	5737	1252	44	3		3	FBXO27	19	39522616	Silent	SNP	G	TCGA-RW-A68B-01A-11D-A35D-08		39522616	19606367	6	1549										
FASTKD5	60493	broad.mit.edu	37	chr20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	ttaaaaacctaggtactttgCggcctaagtacctccagaga	8	10	0	1			TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGTACTTTGCGGCCTAAGTA	0.393																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(766-768)cGc>cAc		FAST kinase domains 5							43	45	44					20																	3128950		2197	4300	6497	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128950C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.767G>A	20.37:g.3128950C>T	ENSP00000369618:p.Arg256His					UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	p.R256H	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1088	-			256		R -> C (in dbSNP:rs3746700).			Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.767G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344047	0.05208	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	5.77	-5.54	0.02544	.	0.210965	0.36854	N	0.002379	T	0.07234	0.0183	N	0.20986	0.625	0.09310	N	0.999996	B	0.17268	0.021	B	0.10450	0.005	T	0.35895	-0.9770	10	0.13470	T	0.59	.	7.9106	0.29789	0.0985:0.4191:0.0:0.4824	.	256	Q7L8L6	FAKD5_HUMAN	H	256	ENSP00000369618:R256H	ENSP00000369618:R256H	R	-	2	0	FASTKD5	3076950	0.000000	0.05858	0.084000	0.20598	0.068000	0.16541	-0.182000	0.09726	-1.106000	0.03008	-0.459000	0.05422	CGC		0.393	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		4	78	0	0	0	1	0	4	78					T	3128950	C	T	3128950	3	4	82	1	0	0	0	0	1	0	0	0	5688	768	27	1	1531	1	FASTKD5	20	3128950	Missense_Mutation	SNP	C	TCGA-RW-A68B-01A-11D-A35D-08		3128950	59896570	7	1550										
FAM83D	81610	broad.mit.edu	37	chr20	37555202	37555202	+	Frame_Shift_Del	DEL	G	G	-													0.25	2	1	2.94444444444444	NA	2.94444444444444	0.333333333333333	1	0	cgcctggctctggaggagctGgtggcgggcggccccgaagc							TCGA-RW-A68B-01A-11D-A35D-08	TCGA-RW-A68B-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4afc3d13-ad9f-4900-8507-b37de18d0347	dc696df8-0c64-4c3f-9044-7c0156062d78	g.chr20:37555202delG	ENST00000217429.4	+	1	248	c.207delG	c.(205-207)ctgfs	p.L69fs		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	39					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGAGGAGCTGGTGGCGGGCG	0.736																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(205-207)ctfs		family with sequence similarity 83, member D							4	5	5					20																	37555202		1733	3802	5535	SO:0001589	frameshift_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555202delG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.207delG	20.37:g.37555202delG	ENSP00000217429:p.Leu69fs						p.L69fs	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			1	248	+		Myeloproliferative disorder(115;0.00878)	39					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Frame_Shift_Del	DEL	ENST00000217429.4	37	c.207delG	CCDS42872.1																																																																																				0.736	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			2	4						2	4	---	---	---	---	-	37555202	G	-	37555202	7	5	82	1	0	1	0	1	0	0	0	0	5636	1335	47	0	209	0	FAM83D	20	37555202	Frame_Shift_Del	DEL	G	TCGA-RW-A68B-01A-11D-A35D-08	34426252	37555202	25470318	8	1551										
KIAA0754	643314	broad.mit.edu	37	chr1	39878320	39878320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtggcatcatcagagggaGgggagatggaaaggagagat	18	3	2	3			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:39878320G>A	ENST00000530275.1	+	1	2170	c.1975G>A	c.(1975-1977)Ggg>Agg	p.G659R	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	659										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAGAGGGAGGGGAGATGGA	0.428																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1975-1977)Ggg>Agg		KIAA0754							80	79	79					1																	39878320		1903	4126	6029	SO:0001583	missense	643314							g.chr1:39878320G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1975G>A	1.37:g.39878320G>A	ENSP00000431179:p.Gly659Arg					MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron	p.G659R	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2170	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	659					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1975G>A		.	.	.	.	.	.	.	.	.	.	G	10.61	1.399276	0.25291	.	.	ENSG00000255103	ENST00000530275	D	0.85702	-2.02	5.33	0.14	0.14804	.	.	.	.	.	T	0.72708	0.3494	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.61337	-0.7083	9	0.72032	D	0.01	.	5.2382	0.15458	0.3272:0.1383:0.5345:0.0	.	659	O94854	K0754_HUMAN	R	659	ENSP00000431179:G659R	ENSP00000431179:G659R	G	+	1	0	RP4-562N20.1	39650907	0.081000	0.21417	0.001000	0.08648	0.816000	0.46133	0.504000	0.22626	0.010000	0.14839	-0.127000	0.14921	GGG		0.428	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		5	46	0	0	0	1	0	5	46					A	39878320	G	A	39878320	3	1	83	1	0	0	0	0	1	0	0	0	8192	1000	35	3	2385	3	KIAA0754	1	39878320	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08		39878320	209372301	1	1552										
VCAM1	7412	broad.mit.edu	37	chr1	101186144	101186144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtccccatttttctcttgGagaacccagatagatagtcc	8	11	1	3			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:101186144G>C	ENST00000294728.2	+	2	278	c.177G>C	c.(175-177)tgG>tgC	p.W59C	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	59	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTCTCTTGGAGAACCCAGA	0.473																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(175-177)tgG>tgC		vascular cell adhesion molecule 1	Carvedilol(DB01136)						79	73	75					1																	101186144		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101186144G>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.177G>C	1.37:g.101186144G>C	ENSP00000294728:p.Trp59Cys					VCAM1_ENST00000370115.1_Missense_Mutation_p.W59C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W59C|VCAM1_ENST00000370119.4_Intron	p.W59C	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	278	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	59			Ig-like C2-type 1.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.177G>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529336	0.64860	.	.	ENSG00000162692	ENST00000347652;ENST00000294728;ENST00000370115	D;D;D	0.96300	-3.97;-3.97;-3.97	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051491	0.85682	D	0.000000	D	0.98510	0.9503	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.99072	1.0834	9	.	.	.	-9.3404	17.8974	0.88892	0.0:0.0:1.0:0.0	.	59;59	P19320-2;P19320	.;VCAM1_HUMAN	C	59	ENSP00000304611:W59C;ENSP00000294728:W59C;ENSP00000359133:W59C	.	W	+	3	0	VCAM1	100958732	1.000000	0.71417	0.999000	0.59377	0.671000	0.39405	6.266000	0.72540	2.745000	0.94114	0.655000	0.94253	TGG		0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		5	57	0	0	0	1	0	5	57					C	101186144	G	C	101186144	3	2	83	1	0	0	0	0	1	0	0	0	17134	1183	41	5	183	5	VCAM1	1	101186144	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	61307824	101186144	148064477	2	1553										
OLFM3	118427	broad.mit.edu	37	chr1	102270459	102270459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tttattgttagtataactgtCcatgtaccagacctgagaag	8	7	0	2			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr1:102270459C>T	ENST00000338858.5	-	6	771	c.772G>A	c.(772-774)Gac>Aac	p.D258N	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D238N			Q96PB7	NOE3_HUMAN	olfactomedin 3	258	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTATAACTGTCCATGTACCAG	0.373																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(712-714)Gac>Aac		olfactomedin 3							45	44	44					1																	102270459		2203	4297	6500	SO:0001583	missense	118427					extracellular region		g.chr1:102270459C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.772G>A	1.37:g.102270459C>T	ENSP00000345192:p.Asp258Asn					OLFM3_ENST00000338858.5_Missense_Mutation_p.D258N|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	p.D238N	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	925	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	258			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.712G>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.347121	0.82022	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.90385	-2.66;-2.66	5.35	5.35	0.76521	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.994	D	0.94364	0.7590	10	0.66056	D	0.02	.	19.056	0.93066	0.0:1.0:0.0:0.0	.	238;258	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	109;238;258	ENSP00000359121:D238N;ENSP00000345192:D258N	ENSP00000345192:D258N	D	-	1	0	OLFM3	102043047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.510000	0.84645	0.650000	0.86243	GAC		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			3	34	0	0	0	1	0	3	34					T	102270459	C	T	102270459	3	4	83	1	0	0	0	0	1	0	0	0	10854	855	30	3	668	3	OLFM3	1	102270459	Missense_Mutation	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08	1084315	102270459	146980162	3	1554										
PCYOX1	51449	broad.mit.edu	37	chr2	70485303	70485303	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcttgtggaggccatggggCgcgtcgtcgcggagctcgtc	18	11	0	0			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr2:70485303C>T	ENST00000433351.2	+	1	35	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	PCYOX1_ENST00000505044.2_Intron|PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.R3C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	3					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GGCCATGGGGCGCGTCGTCGC	0.731																																						ENST00000433351.2																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						c.(7-9)Cgc>Tgc		prenylcysteine oxidase 1							37	38	38					2																	70485303		2203	4300	6503	SO:0001583	missense	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70485303C>T	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.7C>T	2.37:g.70485303C>T	ENSP00000387654:p.Arg3Cys					PCYOX1_ENST00000264441.5_Missense_Mutation_p.R3C|PCYOX1_ENST00000505044.2_Intron	p.R3C	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN			1	35	+			3					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	c.7C>T	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719160	0.68844	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.50277	2.39;0.75	4.68	3.76	0.43208	.	1.652070	0.03427	N	0.207182	T	0.30696	0.0773	N	0.14661	0.345	0.24644	N	0.993551	P;P	0.51537	0.946;0.946	B;B	0.34346	0.18;0.18	T	0.35101	-0.9802	10	0.56958	D	0.05	0.0183	10.2532	0.43381	0.1961:0.8039:0.0:0.0	.	3;3	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	C	3	ENSP00000387654:R3C;ENSP00000264441:R3C	ENSP00000264441:R3C	R	+	1	0	PCYOX1	70338807	0.003000	0.15002	0.462000	0.27118	0.003000	0.03518	0.362000	0.20284	2.436000	0.82500	0.549000	0.68633	CGC		0.731	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		5	10	0	0	0	1	0	5	10					T	70485303	C	T	70485303	3	4	83	1	0	0	0	0	1	0	0	0	11608	768	27	1	9	1	PCYOX1	2	70485303	Missense_Mutation	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08		70485303	172714070	4	1555										
BHLHE40	8553	broad.mit.edu	37	chr3	5024941	5024941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaagtgaccacggacgcaGgttcacgatgggagaaagga	14	8	1	2			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr3:5024941G>A	ENST00000256495.3	+	5	1406	c.803G>A	c.(802-804)aGg>aAg	p.R268K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	268					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CACGGACGCAGGTTCACGATG	0.552																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(802-804)aGg>aAg		basic helix-loop-helix family, member e40							74	70	71					3																	5024941		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5024941G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.803G>A	3.37:g.5024941G>A	ENSP00000256495:p.Arg268Lys						p.R268K	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1406	+			268					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.803G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.309126	0.01342	.	.	ENSG00000134107	ENST00000256495	T	0.74737	-0.87	5.52	3.48	0.39840	.	1.131420	0.06336	N	0.707123	T	0.39860	0.1094	N	0.00960	-1.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50617	-0.8807	10	0.02654	T	1	.	4.2071	0.10493	0.4725:0.0:0.5275:0.0	.	268	O14503	BHE40_HUMAN	K	268	ENSP00000256495:R268K	ENSP00000256495:R268K	R	+	2	0	BHLHE40	4999941	0.984000	0.35163	0.931000	0.37212	0.050000	0.14768	2.768000	0.47645	1.340000	0.45581	-0.140000	0.14226	AGG		0.552	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		4	45	0	0	0	1	0	4	45					A	5024941	G	A	5024941	3	1	83	1	0	0	0	0	1	0	0	0	1423	1000	35	3	821	3	BHLHE40	3	5024941	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08		5024941	192997489	5	1556										
LARP1	23367	broad.mit.edu	37	chr5	154183828	154183828	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagccatgtgggctgggtgaTggattcccgtgagcacaggc	17	9	0	2			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr5:154183828T>A	ENST00000336314.4	+	14	2300	c.2276T>A	c.(2275-2277)aTg>aAg	p.M759K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	836					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTGGGTGATGGATTCCCGT	0.557																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2275-2277)aTg>aAg		La ribonucleoprotein domain family, member 1							138	132	134					5																	154183828		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154183828T>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2276T>A	5.37:g.154183828T>A	ENSP00000336721:p.Met759Lys						p.M759K	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	2300	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	836					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2276T>A	CCDS4328.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	21.9|21.9|21.9	4.214844|4.214844|4.214844	0.79352|0.79352|0.79352	.|.|.	.|.|.	ENSG00000155506|ENSG00000155506|ENSG00000155506	ENST00000522272|ENST00000336314|ENST00000518677	.|T|.	.|0.28454|.	.|1.61|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	.|.|.	.|0.035174|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.80665|0.80665|0.80665	0.4666|0.4666|0.4666	M|M|M	0.86740|0.86740|0.86740	2.835|2.835|2.835	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.71674|.	.|0.979;0.998|.	.|P;D|.	.|0.69307|.	.|0.822;0.963|.	T|T|T	0.83011|0.83011|0.83011	-0.0172|-0.0172|-0.0172	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-20.5089|-20.5089|-20.5089	16.8222|16.8222|16.8222	0.85835|0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|836;759|.	.|Q6PKG0;Q6PKG0-3|.	.|LARP1_HUMAN;.|.	E|K|R	16|759|150	.|ENSP00000336721:M759K|.	.|ENSP00000336721:M759K|.	D|M|W	+|+|+	3|2|1	2|0|0	LARP1|LARP1|LARP1	154164021|154164021|154164021	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.254000|0.254000|0.254000	0.26022|0.26022|0.26022	7.975000|7.975000|7.975000	0.88055|0.88055|0.88055	2.371000|2.371000|2.371000	0.80710|0.80710|0.80710	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATG|TGG		0.557	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		10	77	0	0	0	1	0	10	77					A	154183828	T	A	154183828	3	1	83	1	0	0	0	0	1	0	0	0	8628	1464	51	5	2330	5	LARP1	5	154183828	Missense_Mutation	SNP	T	TCGA-RW-A68C-01A-11D-A35D-08		154183828	26731432	6	1557										
PTPRD	5789	broad.mit.edu	37	chr9	8389380	8389380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatacccatctatgtagttgGcattcacatagtcacttcct	5	11	3	0			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr9:8389380G>T	ENST00000381196.4	-	34	4781	c.4238C>A	c.(4237-4239)gCc>gAc	p.A1413D	PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1413	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATGTAGTTGGCATTCACATA	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4237-4239)gCc>gAc		protein tyrosine phosphatase, receptor type, D							166	158	160					9																	8389380		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389380G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4238C>A	9.37:g.8389380G>T	ENSP00000370593:p.Ala1413Asp	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Missense_Mutation_p.A1007D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1413D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1003D|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1400D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1391D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1413D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1006D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1006D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1003D	p.A1413D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4781	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1413			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4238C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083301	0.94050	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.111218	0.64402	D	0.000010	D	0.92609	0.7652	H	0.99890	4.9	0.80722	D	1	D;B;B;B;D;B;D;D;D	0.89917	1.0;0.235;0.235;0.235;1.0;0.197;1.0;0.969;0.999	D;B;B;B;D;B;D;P;D	0.79784	0.953;0.189;0.189;0.189;0.993;0.119;0.983;0.648;0.981	D	0.96114	0.9079	9	.	.	.	.	19.4972	0.95079	0.0:0.0:1.0:0.0	.	1006;997;1006;1007;1003;1003;1400;1413;1413	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	1413;1413;1400;1391;1007;1006;1003;1003;884;1413;1006;1006	ENSP00000370593:A1413D;ENSP00000348812:A1413D;ENSP00000353187:A1400D;ENSP00000351293:A1391D;ENSP00000347373:A1007D;ENSP00000380741:A1006D;ENSP00000380735:A1003D;ENSP00000440515:A1003D;ENSP00000438164:A1413D;ENSP00000417093:A1006D;ENSP00000380731:A1006D	.	A	-	2	0	PTPRD	8379380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.604000	0.88044	0.555000	0.69702	GCC		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	89	1	0	8.12818e-05	1	8.53459e-05	7	89					T	8389380	G	T	8389380	3	4	83	1	0	0	0	0	1	0	0	0	12799	1203	42	5	1540	5	PTPRD	9	8389380	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08		8389380	132824051	7	1558										
IFNA7	3444	broad.mit.edu	37	chr9	21202068	21202068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatcaaggccctcctattacGcaggctgtgggtctgaggca	12	11	2	1	rs140552953	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr9:21202068G>A	ENST00000239347.3	-	1	136	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	33					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTATTACGCAGGCTGTGG	0.512													g|||	2	0.000399361	0.0015	0	5008	,	,		19527	0		0	False		,,,				2504	0					ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(97-99)Cgt>Tgt		interferon, alpha 7		C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	98	97	97		97	-5.3	0	9	dbSNP_134	97	0,8600		0,0,4300	no	missense	IFNA7	NM_021057.2	180	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	33/190	21202068	4,13002	2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21202068G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.97C>T	9.37:g.21202068G>A	ENSP00000239347:p.Arg33Cys						p.R33C	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	136	-			33					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.97C>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642755	0.67244	9.08E-4	0.0	ENSG00000214042	ENST00000239347	T	0.05786	3.39	3.14	-5.26	0.02772	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.628040	0.03262	N	0.183455	T	0.12475	0.0303	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.25502	-1.0130	10	0.38643	T	0.18	.	5.6854	0.17801	0.0:0.3633:0.2867:0.3499	.	33	P01567	IFNA7_HUMAN	C	33	ENSP00000239347:R33C	ENSP00000239347:R33C	R	-	1	0	IFNA7	21192068	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.735000	0.00802	-2.082000	0.00868	-1.901000	0.00528	CGT		0.512	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		5	106	0	0	0	1	0	5	106					A	21202068	G	A	21202068	3	1	83	1	0	0	0	0	1	0	0	0	7542	1087	38	1	476	1	IFNA7	9	21202068	Missense_Mutation	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	12812688	21202068	120011363	8	1559										
MUC2	4583	broad.mit.edu	37	chr11	1090952	1090954	+	In_Frame_Del	DEL	ACC	ACC	-													0	0	1	0	0	0	1	1	0	cccccaccaccttcaccactAccaccaccaccaccaccccg					rs72655327|rs199659386		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr11:1090952_1090954delACC	ENST00000441003.2	+	28	3874_3876	c.3847_3849delACC	c.(3847-3849)accdel	p.T1288del	MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_In_Frame_Del_p.T1289del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1288					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cttcaccactaccaccaccacca	0.616																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3847-3849)del		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)			86,3588		1,84,1752						-2.3	0		dbSNP_130	45	217,7573		3,211,3681	no	coding	MUC2	NM_002457.2		4,295,5433	A1A1,A1R,RR		2.7856,2.3408,2.6431				303,11161				SO:0001651	inframe_deletion	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1090952_1090954delACC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3847_3849delACC	11.37:g.1090961_1090963delACC	ENSP00000415183:p.Thr1288del					MUC2_ENST00000359061.5_In_Frame_Del_p.T1289del	p.T1288del	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	28	3874_3876	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1288					Q14878	In_Frame_Del	DEL	ENST00000441003.2	37	c.3847_3849delACC																																																																																					0.616	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	4						2	4	---	---	---	---	-	1090954	ACC	-	1090952	7	5	83	1	0	1	0	1	0	0	0	0	9975	391	14	0	3957	0	MUC2	11	1090952	In_Frame_Del	DEL	ACC	TCGA-RW-A68C-01A-11D-A35D-08		1090952	133915564	9	1560										
OR8K5	219453	broad.mit.edu	37	chr11	55926912	55926912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggcatttttcacctcttcGtttcttaagctgtaaatcaa	5	9	4	0	rs147115733		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr11:55926912G>A	ENST00000313447.1	-	1	881	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCACCTCTTCGTTTCTTAAGC	0.299													G|||	1	0.000199681	0	0	5008	,	,		15434	0		0.001	False		,,,				2504	0					ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(880-882)aaC>aaT		olfactory receptor, family 8, subfamily K, member 5		G		0,4402		0,0,2201	72	69	70		882	3	1	11	dbSNP_134	70	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR8K5	NM_001004058.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		294/308	55926912	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926912G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.882C>T	11.37:g.55926912G>A							p.N294N	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	881	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	294					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.882C>T	CCDS31521.1																																																																																				0.299	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		3	36	0	0	0	1	0	3	36					A	55926912	G	A	55926912	2	1	83	1	0	0	0	0	0	0	0	1	11245	1136	40	1		1	OR8K5	11	55926912	Silent	SNP	G	TCGA-RW-A68C-01A-11D-A35D-08	54835960	55926912	79079604	10	1561										
RNF31	55072	broad.mit.edu	37	chr14	24629074	24629074	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcttccctcacctttaggCggctgccgagtgatagagca	10	13	2	2	rs564151269		TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:24629074C>T	ENST00000324103.6	+	19	3221	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	RNF31_ENST00000559275.1_Splice_Site_p.G816G|IRF9_ENST00000396864.3_5'Flank|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Splice_Site_p.G442G|IRF9_ENST00000557894.1_5'Flank|RNF31_ENST00000382687.3_Splice_Site_p.G816G	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	967	LDD domain.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G967G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACCTTTAGGCGGCTGCCGAG	0.582													C|||	1	0.000199681	0	0	5008	,	,		18509	0.001		0	False		,,,				2504	0					ENST00000558468.1																			1	Substitution - coding silent(1)	p.G967G(1)	large_intestine(1)								c.e11-1									122	125	124					14																	24629074		1947	4145	6092	SO:0001630	splice_region_variant	0							g.chr14:24629074C>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2900-1C>T	14.37:g.24629074C>T						RNF31_ENST00000559275.1_Splice_Site_p.G816_splice|RNF31_ENST00000324103.6_Splice_Site_p.G967_splice|RNF31_ENST00000382687.3_Splice_Site_p.G816_splice	p.G442_splice							11	1326	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Splice_Site	SNP	ENST00000324103.6	37	c.1324_splice	CCDS41931.1																																																																																				0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	Silent	4	141	0	0	0	1	0	4	141					T	24629074	C	T	24629074	5	4	83	1	0	0	0	0	0	0	1	0	13487	782	27	1	2975	1	RNF31	14	24629074	Splice_Site	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08		24629074	82720466	11	1562										
SLC25A21	89874	broad.mit.edu	37	chr14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ctggtgacagtgacacatatCccagcaatttcttgtactgc	8	11	1	2			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:37198737C>T	ENST00000331299.5	-	5	820	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(304-306)gGa>gAa		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							63	58	60					14																	37198737		2202	4299	6501	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37198737C>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.305G>A	14.37:g.37198737C>T	ENSP00000329452:p.Gly102Glu					SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	5	820	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		102					A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.305G>A	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.517007	0.04171	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.77750	-1.12;-1.12	5.88	5.0	0.66597	Mitochondrial carrier domain (2);	0.313942	0.38837	N	0.001549	T	0.62221	0.2410	L	0.33753	1.03	0.39473	D	0.967754	B	0.12013	0.005	B	0.12837	0.008	T	0.55231	-0.8173	10	0.02654	T	1	-5.904	10.1295	0.42669	0.135:0.7965:0.0:0.0685	.	102	Q9BQT8	ODC_HUMAN	E	102	ENSP00000451873:G102E;ENSP00000329452:G102E	ENSP00000329452:G102E	G	-	2	0	SLC25A21	36268488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.291000	0.33330	1.495000	0.48549	0.650000	0.86243	GGA		0.318	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		8	46	0	0	0	1	0	8	46					T	37198737	C	T	37198737	3	4	83	1	0	0	0	0	1	0	0	0	14484	855	30	3	623	3	SLC25A21	14	37198737	Missense_Mutation	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08	12569663	37198737	70150803	12	1563										
ADAM20	8748	broad.mit.edu	37	chr14	70989875	70989875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acggtttccttgggtgttgaTttcttggtagcaactctgag	12	7	2	2			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr14:70989875T>C	ENST00000256389.3	-	2	1994	c.1750A>G	c.(1750-1752)Atc>Gtc	p.I584V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	534	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGGGTGTTGATTTCTTGGTAG	0.423																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1750-1752)Atc>Gtc		ADAM metallopeptidase domain 20							184	131	149					14																	70989875		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989875T>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1750A>G	14.37:g.70989875T>C	ENSP00000256389:p.Ile584Val					RP11-486O13.4_ENST00000556646.1_lincRNA	p.I584V	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1994	-			534			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1750A>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	0.141	-1.102407	0.01828	.	.	ENSG00000134007	ENST00000256389	T	0.20332	2.08	4.66	-1.36	0.09085	ADAM, cysteine-rich (2);	0.762394	0.10814	N	0.631314	T	0.10165	0.0249	N	0.25332	0.735	0.09310	N	1	B	0.13145	0.007	B	0.22601	0.04	T	0.40683	-0.9550	10	0.02654	T	1	.	4.9475	0.13997	0.0:0.3864:0.1636:0.45	.	534	O43506	ADA20_HUMAN	V	584	ENSP00000256389:I584V	ENSP00000256389:I584V	I	-	1	0	ADAM20	70059628	0.000000	0.05858	0.237000	0.24090	0.013000	0.08279	-0.984000	0.03755	-0.072000	0.12864	-0.379000	0.06801	ATC		0.423	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			8	87	0	0	0	1	0	8	87					C	70989875	T	C	70989875	3	2	83	1	0	0	0	0	1	0	0	0	242	1493	52	4	584	4	ADAM20	14	70989875	Missense_Mutation	SNP	T	TCGA-RW-A68C-01A-11D-A35D-08	33791138	70989875	36359665	13	1564										
KRT39	390792	broad.mit.edu	37	chr17	39122806	39122806	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaaggcgctcgttcaagatTtgcatggtctccttctcatt	9	11	3	1			TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr17:39122806T>A	ENST00000355612.2	-	1	338	c.303A>T	c.(301-303)caA>caT	p.Q101H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	101	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CGTTCAAGATTTGCATGGTCT	0.443																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(301-303)caA>caT		keratin 39							214	215	214					17																	39122806		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39122806T>A	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.303A>T	17.37:g.39122806T>A	ENSP00000347823:p.Gln101His					AC004231.2_ENST00000418393.1_RNA	p.Q101H	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			1	338	-		Breast(137;0.00043)|Ovarian(249;0.15)	101			Coil 1A.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.303A>T	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	t	8.734	0.917275	0.17982	.	.	ENSG00000196859	ENST00000355612	D	0.90900	-2.75	5.81	-4.26	0.03755	Filament (1);	0.524332	0.16091	N	0.230076	D	0.94847	0.8335	H	0.98199	4.17	0.23483	N	0.99758	P	0.40731	0.728	P	0.49999	0.628	D	0.91535	0.5245	10	0.87932	D	0	.	11.1219	0.48296	0.0:0.6348:0.1079:0.2573	.	101	Q6A163	K1C39_HUMAN	H	101	ENSP00000347823:Q101H	ENSP00000347823:Q101H	Q	-	3	2	KRT39	36376332	0.013000	0.17824	0.673000	0.29887	0.195000	0.23768	0.036000	0.13819	-0.647000	0.05444	-0.977000	0.02584	CAA		0.443	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		5	144	0	0	0	1	0	5	144					A	39122806	T	A	39122806	3	1	83	1	0	0	0	0	1	0	0	0	8476	1838	64	5	1200	5	KRT39	17	39122806	Missense_Mutation	SNP	T	TCGA-RW-A68C-01A-11D-A35D-08		39122806	42072404	14	1565										
VAV1	7409	broad.mit.edu	37	chr19	6821671	6821671	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctctgtcctggaccccgatCgcccagaacagggggatcat	12	14	2	1	rs141823895	byFrequency	TCGA-RW-A68C-01A-11D-A35D-08	TCGA-RW-A68C-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e70c54a-1063-4eaf-97f3-7fa8f05711e9	1afed359-ab74-4787-bffb-7f0635eba182	g.chr19:6821671C>A	ENST00000602142.1	+	3	442	c.360C>A	c.(358-360)atC>atA	p.I120I	VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000596764.1_Silent_p.I120I|VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000304076.2_Silent_p.I120I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	120					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I120I(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGACCCCGATCGCCCAGAACA	0.627																																						ENST00000304076.2																			1	Substitution - coding silent(1)	p.I120I(1)	lung(1)	biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(358-360)atC>atA		vav 1 guanine nucleotide exchange factor							89	78	82					19																	6821671		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6821671C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.360C>A	19.37:g.6821671C>A						VAV1_ENST00000539284.1_Silent_p.I55I|VAV1_ENST00000602142.1_Silent_p.I120I|VAV1_ENST00000599806.1_Silent_p.I65I|VAV1_ENST00000596764.1_Silent_p.I120I	p.I120I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			3	454	+			120					B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.360C>A	CCDS12174.1																																																																																				0.627	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			13	50	1	0	3.27435e-08	1	3.61902e-08	13	50					A	6821671	C	A	6821671	2	1	83	1	0	0	0	0	0	0	0	1	17128	874	31	5		5	VAV1	19	6821671	Silent	SNP	C	TCGA-RW-A68C-01A-11D-A35D-08		6821671	52307312	15	1566										
EPAS1	2034	broad.mit.edu	37	chr2	46607406	46607406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggagacactggcaccctAtatccccatggacggggaag	12	12	0	1			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr2:46607406A>G	ENST00000263734.3	+	12	2105	c.1595A>G	c.(1594-1596)tAt>tGt	p.Y532C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	532	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCACCCTATATCCCCATG	0.587																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1594-1596)tAt>tGt		endothelial PAS domain protein 1							84	92	89					2																	46607406		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607406A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1595A>G	2.37:g.46607406A>G	ENSP00000263734:p.Tyr532Cys						p.Y532C	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2105	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	532			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1595A>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246852	0.80024	.	.	ENSG00000116016	ENST00000263734	D	0.98400	-4.91	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99861	1.1083	10	0.87932	D	0	.	14.8316	0.70153	1.0:0.0:0.0:0.0	.	532	Q99814	EPAS1_HUMAN	C	532	ENSP00000263734:Y532C	ENSP00000263734:Y532C	Y	+	2	0	EPAS1	46460910	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.335000	0.96500	1.915000	0.55452	0.402000	0.26972	TAT		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		68	65	0	0	0	1	0	68	65					G	46607406	A	G	46607406	3	3	84	1	0	0	0	0	1	0	0	0	5150	449	16	4	1641	4	EPAS1	2	46607406	Missense_Mutation	SNP	A	TCGA-RW-A68D-01A-11D-A35D-08		46607406	196591967	1	1567										
SLC30A5	64924	broad.mit.edu	37	chr5	68412389	68412389	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaacaaattcttgaggagaGtgactctaggcagatctttt	9	6	3	4			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr5:68412389G>C	ENST00000396591.3	+	10	1851	c.1241G>C	c.(1240-1242)aGt>aCt	p.S414T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	414					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTGAGGAGAGTGACTCTAGG	0.333																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1240-1242)aGt>aCt		solute carrier family 30 (zinc transporter), member 5							62	65	64					5																	68412389		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68412389G>C	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1241G>C	5.37:g.68412389G>C	ENSP00000379836:p.Ser414Thr					CTC-498J12.3_ENST00000504129.1_RNA	p.S414T	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	10	1851	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	414					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1241G>C	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536808	0.27475	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.65364	-0.15	5.87	4.94	0.65067	.	0.132704	0.64402	D	0.000001	T	0.46014	0.1371	L	0.33189	0.99	0.80722	D	1	B;B;B	0.21520	0.024;0.057;0.024	B;B;B	0.28305	0.017;0.088;0.017	T	0.32188	-0.9916	10	0.14656	T	0.56	.	5.253	0.15532	0.4716:0.0:0.5284:0.0	.	243;243;414	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	T	414;27	ENSP00000379836:S414T	ENSP00000379836:S414T	S	+	2	0	SLC30A5	68448145	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.234000	0.65343	1.455000	0.47813	0.655000	0.94253	AGT		0.333	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			14	45	0	0	0	1	0	14	45					C	68412389	G	C	68412389	3	2	84	1	0	0	0	0	1	0	0	0	14558	1029	36	5	1367	5	SLC30A5	5	68412389	Missense_Mutation	SNP	G	TCGA-RW-A68D-01A-11D-A35D-08		68412389	112502871	2	1568										
SLC35A4	113829	broad.mit.edu	37	chr5	139947373	139947373	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttgtcgtcagtgtacacaGagctgctcatgaagcgacag	12	10	2	2			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr5:139947373G>T	ENST00000514199.1	+	2	2305	c.619G>T	c.(619-621)Gag>Tag	p.E207*	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Nonsense_Mutation_p.E207*			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	207	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTACACAGAGCTGCTCAT	0.577																																						ENST00000514199.1																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(619-621)Gag>Tag		solute carrier family 35, member A4							93	92	92					5																	139947373		2203	4300	6503	SO:0001587	stop_gained	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139947373G>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"Solute carriers"	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.619G>T	5.37:g.139947373G>T	ENSP00000424566:p.Glu207*					SLC35A4_ENST00000323146.3_Nonsense_Mutation_p.E207*|APBB3_ENST00000507279.1_Intron	p.E207*			Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2305	+			207			Leu-rich.		A8K013	Nonsense_Mutation	SNP	ENST00000514199.1	37	c.619G>T	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	G	45	11.730368	0.99596	.	.	ENSG00000176087	ENST00000323146;ENST00000514199	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.2268	17.3673	0.87367	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	.	E	+	1	0	SLC35A4	139927557	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.259000	0.95561	2.423000	0.82170	0.462000	0.41574	GAG		0.577	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		39	54	1	0	6.2361e-21	1	6.50724e-21	39	54					T	139947373	G	T	139947373	4	4	84	1	0	0	0	0	0	1	0	0	14573	943	33	5	621	5	SLC35A4	5	139947373	Nonsense_Mutation	SNP	G	TCGA-RW-A68D-01A-11D-A35D-08	71534984	139947373	40967887	3	1569										
ETV1	2115	broad.mit.edu	37	chr7	13975516	13975516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccacttgtggcttctgatcaTaggcactacccaggggacaa	10	12	2	1			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr7:13975516T>C	ENST00000430479.1	-	8	1038	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ETV1_ENST00000420159.2_Missense_Mutation_p.Y66C|ETV1_ENST00000343495.5_Missense_Mutation_p.Y106C|ETV1_ENST00000242066.5_Missense_Mutation_p.Y106C|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403527.1_Missense_Mutation_p.Y84C|ETV1_ENST00000403685.1_Missense_Mutation_p.Y106C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.Y138C|ETV1_ENST00000405218.2_Missense_Mutation_p.Y124C|ETV1_ENST00000405192.2_Missense_Mutation_p.Y124C	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	124					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTCTGATCATAGGCACTACC	0.443			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"M, E"	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"		"Ewing sarcoma, prostate"	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(316-318)tAt>tGt		ets variant 1							80	79	80					7																	13975516		1962	4155	6117	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975516T>C		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.371A>G	7.37:g.13975516T>C	ENSP00000405327:p.Tyr124Cys					ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Missense_Mutation_p.Y124C|ETV1_ENST00000242066.5_Missense_Mutation_p.Y106C|ETV1_ENST00000405218.2_Missense_Mutation_p.Y124C|ETV1_ENST00000405358.4_Missense_Mutation_p.Y138C|ETV1_ENST00000403685.1_Missense_Mutation_p.Y106C|ETV1_ENST00000430479.1_Missense_Mutation_p.Y124C|ETV1_ENST00000420159.2_Missense_Mutation_p.Y66C|ETV1_ENST00000403527.1_Missense_Mutation_p.Y84C|ETV1_ENST00000476720.2_5'UTR	p.Y106C			P50549	ETV1_HUMAN			7	1055	-			124					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.317A>G	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872094	0.72180	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.83	5.83	0.93111	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.120390	0.64402	D	0.000018	T	0.46927	0.1418	L	0.52266	1.64	0.80722	D	1	D;B;D;D;D;B	0.89917	1.0;0.05;1.0;0.999;1.0;0.395	D;B;D;D;D;B	0.87578	0.992;0.061;0.992;0.995;0.998;0.366	T	0.40117	-0.9580	10	0.62326	D	0.03	.	16.2579	0.82526	0.0:0.0:0.0:1.0	.	135;106;138;66;84;124	Q59GA7;P50549-2;B5MCT2;F5GXR2;E9PHB1;P50549	.;.;.;.;.;ETV1_HUMAN	C	124;106;106;66;124;138;84;124;106;66	ENSP00000405327:Y124C;ENSP00000242066:Y106C;ENSP00000340853:Y106C;ENSP00000411626:Y66C;ENSP00000385381:Y124C;ENSP00000384085:Y138C;ENSP00000384138:Y84C;ENSP00000385551:Y124C;ENSP00000385686:Y106C;ENSP00000393078:Y66C	ENSP00000242066:Y106C	Y	-	2	0	ETV1	13942041	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.652000	0.83633	2.250000	0.74265	0.529000	0.55759	TAT		0.443	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		3	43	0	0	0	1	0	3	43					C	13975516	T	C	13975516	3	2	84	1	0	0	0	0	1	0	0	0	5277	1406	49	4	1090	4	ETV1	7	13975516	Missense_Mutation	SNP	T	TCGA-RW-A68D-01A-11D-A35D-08		13975516	145163147	4	1570										
C9orf123	90871	broad.mit.edu	37	chr9	7799665	7799665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgggggcgcaggtttggCgggcgcggcggcggtaccgg	23	10	0	0			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr9:7799665C>T	ENST00000358227.4	-	1	402	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1	Q96GE9	TM261_HUMAN	transmembrane protein 261	24						integral component of membrane (GO:0016021)											GCAGGTTTGGCGGGCGCGGCG	0.657																																						ENST00000358227.4																			0				lung(1)	1						c.(70-72)Gcc>Acc									20	25	23					9																	7799665		2201	4299	6500	SO:0001583	missense	90871					integral to membrane		g.chr9:7799665C>T	BC009510	CCDS34989.1	9p24.1	2014-02-21	2013-09-11	2013-09-11	ENSG00000137038	ENSG00000137038			30536	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 123"	C9orf123		21666724	Standard	NM_033428		Approved	MGC4730	uc003zkj.3	Q96GE9	OTTHUMG00000019539	ENST00000358227.4:c.70G>A	9.37:g.7799665C>T	ENSP00000350961:p.Ala24Thr					C9orf123_ENST00000484082.1_Intron	p.A24T	NM_033428.1	NP_219500.1	Q96GE9	CI123_HUMAN		GBM - Glioblastoma multiforme(50;0.0561)	1	402	-		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)	24					A8K9B7|Q5T6Y9|Q9NT74	Missense_Mutation	SNP	ENST00000358227.4	37	c.70G>A	CCDS34989.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027107	0.54683	.	.	ENSG00000137038	ENST00000358227	T	0.53857	0.6	4.78	0.707	0.18139	.	0.445007	0.19150	N	0.121477	T	0.38983	0.1061	L	0.36672	1.1	0.09310	N	1	D;D	0.56968	0.978;0.978	B;P	0.46718	0.395;0.525	T	0.20306	-1.0279	10	0.32370	T	0.25	-4.3416	3.4046	0.07336	0.167:0.4171:0.3243:0.0916	.	24;24	Q96GE9-2;Q96GE9	.;CI123_HUMAN	T	24	ENSP00000350961:A24T	ENSP00000350961:A24T	A	-	1	0	C9orf123	7789665	0.114000	0.22134	0.058000	0.19502	0.012000	0.07955	0.091000	0.15046	0.284000	0.22305	0.454000	0.30748	GCC		0.657	TMEM261-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051705.1	NM_033428		3	28	0	0	0	1	0	3	28					T	7799665	C	T	7799665	3	4	84	1	0	0	0	0	1	0	0	0	2453	768	27	1	276	1	C9orf123	9	7799665	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		7799665	133413766	5	1571										
FANCC	2176	broad.mit.edu	37	chr9	97864024	97864024	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagctctttaaggagctctcGggccagtttttctgatctag	10	10	4	1	rs104886457		TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr9:97864024G>A	ENST00000289081.3	-	15	1896	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	FANCC_ENST00000375305.1_Nonsense_Mutation_p.R548*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	548					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AGGAGCTCTCGGGCCAGTTTT	0.547			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"D, Mis, N, F, S"	"Fanconi anemia, complementation group C"			L		"AML, leukemia"			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3	GRCh37	CM930241	FANCC	M	rs104886457	c.(1642-1644)Cga>Tga	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C		G	stop/ARG	0,4406		0,0,2203	70	66	67	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1642	2.4	1	9	dbSNP_132	67	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	FANCC	NM_000136.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		548/559	97864024	1,13005	2203	4300	6503	SO:0001587	stop_gained	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97864024G>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1642C>T	9.37:g.97864024G>A	ENSP00000289081:p.Arg548*					FANCC_ENST00000375305.1_Nonsense_Mutation_p.R548*	p.R548*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			15	1896	-		Acute lymphoblastic leukemia(62;0.138)	548					B1ALR8	Nonsense_Mutation	SNP	ENST00000289081.3	37	c.1642C>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454280	0.84209	0.0	1.16E-4	ENSG00000158169	ENST00000289081;ENST00000375305	.	.	.	4.76	2.43	0.29744	.	0.508870	0.21219	N	0.078170	.	.	.	.	.	.	0.49687	A	0.999815	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1258	9.8369	0.40975	0.0:0.0:0.3843:0.6157	.	.	.	.	X	548	.	ENSP00000289081:R548X	R	-	1	2	FANCC	96903845	0.921000	0.31238	0.999000	0.59377	0.152000	0.21847	0.367000	0.20382	0.335000	0.23614	-0.397000	0.06425	CGA		0.547	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		12	17	0	0	0	1	0	12	17					A	97864024	G	A	97864024	4	1	84	1	0	0	0	0	0	1	0	0	5664	1124	39	2	38	2	FANCC	9	97864024	Nonsense_Mutation	SNP	G	TCGA-RW-A68D-01A-11D-A35D-08	90064359	97864024	43349407	6	1572										
DEPDC7	91614	broad.mit.edu	37	chr11	33047366	33047366	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggatgtcattttttctcacCtaattcagaataagtatttt	5	6	3	1			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr11:33047366C>G	ENST00000241051.3	+	2	327	c.235C>G	c.(235-237)Cta>Gta	p.L79V	DEPDC7_ENST00000311388.3_Missense_Mutation_p.L70V	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	79	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTTTTCTCACCTAATTCAGAA	0.393																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(208-210)Cta>Gta		DEP domain containing 7							177	166	169					11																	33047366		1879	4124	6003	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33047366C>G		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.235C>G	11.37:g.33047366C>G	ENSP00000241051:p.Leu79Val					DEPDC7_ENST00000241051.3_Missense_Mutation_p.L79V	p.L70V	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			2	584	+			79			DEP.		G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.208C>G	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490770	0.64074	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.13538	2.58;2.58	6.04	2.13	0.27403	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.070787	0.56097	D	0.000024	T	0.32071	0.0817	M	0.73372	2.23	0.43408	D	0.995541	D;D;D;D	0.71674	0.998;0.985;0.996;0.992	D;P;P;P	0.74023	0.982;0.824;0.861;0.871	T	0.01488	-1.1342	10	0.72032	D	0.01	-5.2161	10.2438	0.43328	0.0:0.7332:0.0:0.2668	.	79;79;70;79	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	V	79;70	ENSP00000241051:L79V;ENSP00000308971:L70V	ENSP00000241051:L79V	L	+	1	2	DEPDC7	33003942	0.670000	0.27512	0.821000	0.32701	0.984000	0.73092	1.250000	0.32850	0.147000	0.19030	-0.258000	0.10820	CTA		0.393	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		7	185	0	0	0	1	0	7	185					G	33047366	C	G	33047366	3	3	84	1	0	0	0	0	1	0	0	0	4444	680	24	5	291	5	DEPDC7	11	33047366	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		33047366	101959150	7	1573										
RARG	5916	broad.mit.edu	37	chr12	53609167	53609167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gttgatgatacagtttttgtCgcggtgacacgtgtacacca	11	8	0	3			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr12:53609167C>T	ENST00000425354.2	-	5	872	c.385G>A	c.(385-387)Gac>Aac	p.D129N	RARG_ENST00000338561.5_Missense_Mutation_p.D118N|RARG_ENST00000327550.3_Missense_Mutation_p.D57N|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.D107N|RARG_ENST00000394426.1_Missense_Mutation_p.D129N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	129					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGTTTTTGTCGCGGTGACAC	0.537																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(385-387)Gac>Aac		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						249	193	212					12																	53609167		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53609167C>T	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.385G>A	12.37:g.53609167C>T	ENSP00000388510:p.Asp129Asn					RARG_ENST00000394426.1_Missense_Mutation_p.D129N|RARG_ENST00000338561.5_Missense_Mutation_p.D118N|RARG_ENST00000327550.3_Missense_Mutation_p.D57N|RARG_ENST00000543726.1_Missense_Mutation_p.D107N|RARG_ENST00000543762.1_5'UTR	p.D129N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			5	872	-			129					B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.385G>A	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549352	0.65311	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	4.45	4.45	0.53987	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.055994	0.64402	D	0.000002	D	0.94670	0.8281	N	0.03016	-0.435	0.80722	D	1	P;D;D;P	0.89917	0.758;1.0;1.0;0.535	B;D;D;B	0.87578	0.163;0.995;0.998;0.229	D	0.92259	0.5815	10	0.12103	T	0.63	.	16.3946	0.83586	0.0:1.0:0.0:0.0	.	166;107;129;118	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	N	129;129;57;118;107;166	ENSP00000388510:D129N;ENSP00000377947:D129N;ENSP00000332695:D57N;ENSP00000343698:D118N;ENSP00000444335:D107N	ENSP00000332695:D57N	D	-	1	0	RARG	51895434	1.000000	0.71417	0.980000	0.43619	0.779000	0.44077	7.590000	0.82653	2.471000	0.83476	0.591000	0.81541	GAC		0.537	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		4	199	0	0	0	1	0	4	199					T	53609167	C	T	53609167	3	4	84	1	0	0	0	0	1	0	0	0	13054	884	31	2	1003	2	RARG	12	53609167	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		53609167	80242728	8	1574										
TIMELESS	8914	broad.mit.edu	37	chr12	56811930	56811930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actattaccctctggggatgCcaggcccgctttcttcttgt	9	13	3	0			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr12:56811930C>T	ENST00000553532.1	-	27	3592	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	TIMELESS_ENST00000229201.4_Missense_Mutation_p.A1147T|TIMELESS_ENST00000554616.1_Missense_Mutation_p.A645T					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTGGGGATGCCAGGCCCGCT	0.542																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3439-3441)Gca>Aca		timeless circadian clock							165	173	170					12																	56811930		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811930C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3442G>A	12.37:g.56811930C>T	ENSP00000450607:p.Ala1148Thr					TIMELESS_ENST00000554616.1_Missense_Mutation_p.A645T|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A1148T	p.A1147T	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			27	3593	-			1148						Missense_Mutation	SNP	ENST00000553532.1	37	c.3439G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653977	0.29425	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13657	2.57;2.57;2.57	5.05	3.14	0.36123	Timeless C-terminal (1);	1.502310	0.03919	N	0.283148	T	0.08582	0.0213	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.35919	-0.9769	10	0.09590	T	0.72	2.8102	6.8016	0.23754	0.0:0.725:0.1738:0.1012	.	1148	Q9UNS1	TIM_HUMAN	T	1147;1148;645	ENSP00000229201:A1147T;ENSP00000450607:A1148T;ENSP00000450848:A645T	ENSP00000229201:A1148T	A	-	1	0	TIMELESS	55098197	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-0.540000	0.06106	0.590000	0.29694	0.655000	0.94253	GCA		0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		5	435	0	0	0	1	0	5	435					T	56811930	C	T	56811930	3	4	84	1	0	0	0	0	1	0	0	0	15901	739	26	3	196	3	TIMELESS	12	56811930	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08	3202763	56811930	77039965	9	1575										
EML5	161436	broad.mit.edu	37	chr14	89206879	89206879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ccgtcttaccaaagacacctCgttttggggtcagagcattt	9	11	2	2			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr14:89206879C>T	ENST00000380664.5	-	5	562	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	EML5_ENST00000352093.5_Missense_Mutation_p.R188Q|EML5_ENST00000554922.1_Missense_Mutation_p.R188Q			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	188						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAGACACCTCGTTTTGGGGT	0.368																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(562-564)cGa>cAa		echinoderm microtubule associated protein like 5							143	135	138					14																	89206879		1860	4102	5962	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89206879C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.563G>A	14.37:g.89206879C>T	ENSP00000370039:p.Arg188Gln					EML5_ENST00000352093.5_Missense_Mutation_p.R188Q|EML5_ENST00000380664.5_Missense_Mutation_p.R188Q	p.R188Q	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			5	811	-			188					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.563G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331765	0.95733	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.35278	0.0926	L	0.52364	1.645	0.53005	D	0.999962	D	0.71674	0.998	P	0.59703	0.862	T	0.04268	-1.0964	10	0.11485	T	0.65	-7.7252	18.7549	0.91828	0.0:1.0:0.0:0.0	.	188	Q05BV3	EMAL5_HUMAN	Q	188	ENSP00000451998:R188Q;ENSP00000298315:R188Q;ENSP00000370039:R188Q	ENSP00000298315:R188Q	R	-	2	0	EML5	88276632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.417000	0.82017	0.591000	0.81541	CGA		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			5	87	0	0	0	1	0	5	87					T	89206879	C	T	89206879	3	4	84	1	0	0	0	0	1	0	0	0	5100	884	31	2	5526	2	EML5	14	89206879	Missense_Mutation	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08		89206879	18142661	10	1576										
SQRDL	58472	broad.mit.edu	37	chr15	45951173	45951173	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccgtgcccagctctttgccTgcctgctcaggctgggcact	11	17	2	0			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr15:45951173T>A	ENST00000260324.7	+	2	438	c.52T>A	c.(52-54)Tgc>Agc	p.C18S	SQRDL_ENST00000568606.1_Missense_Mutation_p.C18S|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.C18S	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	18					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCTCTTTGCCTGCCTGCTCAG	0.647																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(52-54)Tgc>Agc		sulfide quinone reductase-like (yeast)							14	16	15					15																	45951173		2197	4296	6493	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45951173T>A	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.52T>A	15.37:g.45951173T>A	ENSP00000260324:p.Cys18Ser					SQRDL_ENST00000568606.1_Missense_Mutation_p.C18S|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.C18S	p.C18S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	2	438	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	18					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.52T>A	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013276	0.19277	.	.	ENSG00000137767	ENST00000260324	T	0.39229	1.09	4.96	1.04	0.20106	.	0.858072	0.10812	N	0.631515	T	0.22666	0.0547	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24905	-1.0147	10	0.18710	T	0.47	.	4.5527	0.12120	0.0:0.1724:0.323:0.5046	.	18	Q9Y6N5	SQRD_HUMAN	S	18	ENSP00000260324:C18S	ENSP00000260324:C18S	C	+	1	0	SQRDL	43738465	0.001000	0.12720	0.413000	0.26509	0.924000	0.55760	0.404000	0.20999	0.228000	0.21019	0.533000	0.62120	TGC		0.647	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			6	4	0	0	0	1	0	6	4					A	45951173	T	A	45951173	3	1	84	1	0	0	0	0	1	0	0	0	15128	1580	55	5	54	5	SQRDL	15	45951173	Missense_Mutation	SNP	T	TCGA-RW-A68D-01A-11D-A35D-08		45951173	56580219	11	1577										
IL16	3603	broad.mit.edu	37	chr15	81591746	81591746	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaacatccccgataaaacaCccactgcttaagaggcaggc	7	14	0	1	rs528190343		TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr15:81591746C>T	ENST00000302987.4	+	13	2079	c.2079C>T	c.(2077-2079)caC>caT	p.H693H	IL16_ENST00000560230.1_Intron|IL16_ENST00000394660.2_Silent_p.H693H|IL16_ENST00000394652.2_5'UTR			Q14005	IL16_HUMAN	interleukin 16	693					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGATAAAACACCCACTGCTTA	0.438																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2077-2079)caC>caT		interleukin 16							233	247	242					15																	81591746		2203	4300	6503	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81591746C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2079C>T	15.37:g.81591746C>T						IL16_ENST00000302987.4_Silent_p.H693H|IL16_ENST00000560230.1_Intron|IL16_ENST00000394652.2_5'UTR	p.H693H	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2439	+			693					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.2079C>T	CCDS42069.1																																																																																				0.438	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		100	165	0	0	0	1	0	100	165					T	81591746	C	T	81591746	2	4	84	1	0	0	0	0	0	0	0	1	7633	506	18	3		3	IL16	15	81591746	Silent	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08	35640573	81591746	20939646	12	1578										
SLC43A2	124935	broad.mit.edu	37	chr17	1531078	1531078	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	gagcagcgagccccagcccaGgaggactgccgagaagagga							TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr17:1531078delG	ENST00000301335.5	-	2	179	c.91delC	c.(91-93)ctgfs	p.L31fs	SLC43A2_ENST00000571650.1_Frame_Shift_Del_p.L31fs|SLC43A2_ENST00000382147.4_Frame_Shift_Del_p.L31fs	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	31					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CCCCAGCCCAGGAGGACTGCC	0.672																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(91-93)tgfs		solute carrier family 43 (amino acid system L transporter), member 2							27	22	24					17																	1531078		2203	4298	6501	SO:0001589	frameshift_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1531078delG	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.91delC	17.37:g.1531078delG	ENSP00000301335:p.Leu31fs					SLC43A2_ENST00000382147.4_Frame_Shift_Del_p.L31fs|SLC43A2_ENST00000301335.4_Frame_Shift_Del_p.L31fs	p.L31fs			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	2	397	-			31					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Frame_Shift_Del	DEL	ENST00000301335.5	37	c.91delC	CCDS11006.1																																																																																				0.672	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		2	4						2	4	---	---	---	---	-	1531078	G	-	1531078	7	5	84	1	0	1	0	1	0	0	0	0	14633	991	35	0	1670	0	SLC43A2	17	1531078	Frame_Shift_Del	DEL	G	TCGA-RW-A68D-01A-11D-A35D-08		1531078	79664132	13	1579										
CD300LG	146894	broad.mit.edu	37	chr17	41926251	41926251	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tctttactgatctctctgttCgtctttccaggtaacagata	6	10	4	2			TCGA-RW-A68D-01A-11D-A35D-08	TCGA-RW-A68D-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f81b6d24-ffdc-4d48-bce5-bca9de8c1939	8ee15795-2e6c-4e56-a9e5-5e280ac8c57c	g.chr17:41926251C>T	ENST00000317310.4	+	2	410	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD300LG_ENST00000586233.1_Silent_p.F123F|CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000293396.8_Silent_p.F123F|CD300LG_ENST00000539718.1_Silent_p.F123F|CD300LG_ENST00000588884.1_Silent_p.F123F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	123					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTCTCTGTTCGTCTTTCCAG	0.557																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(367-369)ttC>ttT		CD300 molecule-like family member g							84	75	78					17																	41926251		2203	4300	6503	SO:0001819	synonymous_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41926251C>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.369C>T	17.37:g.41926251C>T						CD300LG_ENST00000293396.8_Silent_p.F123F|CD300LG_ENST00000377203.4_Silent_p.F123F|CD300LG_ENST00000588884.1_Silent_p.F123F|CD300LG_ENST00000586233.1_Silent_p.F123F|CD300LG_ENST00000539718.1_Silent_p.F123F	p.F123F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	2	410	+		Breast(137;0.0199)	123					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Silent	SNP	ENST00000317310.4	37	c.369C>T	CCDS11470.1																																																																																				0.557	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		20	28	0	0	0	1	0	20	28					T	41926251	C	T	41926251	2	4	84	1	0	0	0	0	0	0	0	1	3002	883	31	2		2	CD300LG	17	41926251	Silent	SNP	C	TCGA-RW-A68D-01A-11D-A35D-08	40395173	41926251	39268959	14	1580										
ECHDC2	55268	broad.mit.edu	37	chr1	53377454	53377454	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	aggtctgttcatcagaatctCagtgatccctgtaaggagtc	10	9	4	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:53377454C>T	ENST00000371522.4	-	2	223	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	44					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATCAGAATCTCAGTGATCCCT	0.617																																						ENST00000371522.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(130-132)Gag>Aag		enoyl CoA hydratase domain containing 2							56	52	53					1																	53377454		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377454C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.130G>A	1.37:g.53377454C>T	ENSP00000360577:p.Glu44Lys					ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K	p.E44K	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN			2	223	-			44					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.130G>A	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773232	0.90108	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000467988	T;T;T	0.76448	-1.02;-1.02;-1.02	4.47	4.47	0.54385	Crotonase, core (1);	0.051658	0.85682	D	0.000000	T	0.73087	0.3542	N	0.17474	0.49	0.80722	D	1	P;D	0.61697	0.933;0.99	P;P	0.53689	0.639;0.732	T	0.76096	-0.3084	10	0.49607	T	0.09	.	14.5323	0.67934	0.0:1.0:0.0:0.0	.	44;44	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	K	44	ENSP00000360577:E44K;ENSP00000351125:E44K;ENSP00000441962:E44K	ENSP00000351125:E44K	E	-	1	0	ECHDC2	53150042	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.919000	0.63383	2.470000	0.83445	0.561000	0.74099	GAG		0.617	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		22	15	0	0	0	1	0	22	15					T	53377454	C	T	53377454	3	4	85	1	0	0	0	0	1	0	0	0	4894	835	29	3	687	3	ECHDC2	1	53377454	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		53377454	195873167	1	1581										
STXBP3	6814	broad.mit.edu	37	chr1	109338934	109338934	+	Frame_Shift_Del	DEL	A	A	-													0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	tccttccagttctactcaacAaaaatcatgataattgtgat							TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:109338934delA	ENST00000370008.3	+	14	1239	c.1189delA	c.(1189-1191)aaafs	p.K397fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	397					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TCTACTCAACAAAAATCATGA	0.308																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1189-1191)aafs		syntaxin binding protein 3							56	56	56					1																	109338934		2203	4300	6503	SO:0001589	frameshift_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109338934delA	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1189delA	1.37:g.109338934delA	ENSP00000359025:p.Lys397fs						p.K397fs	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	14	1239	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	397					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Del	DEL	ENST00000370008.3	37	c.1189delA	CCDS790.1																																																																																				0.308	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		19	32						19	32	---	---	---	---	-	109338934	A	-	109338934	7	5	85	1	0	1	0	1	0	0	0	0	15353	131	5	0	1243	0	STXBP3	1	109338934	Frame_Shift_Del	DEL	A	TCGA-RW-A68F-01A-11D-A35D-08	55961480	109338934	139911687	2	1582										
NUCKS1	64710	broad.mit.edu	37	chr1	205687522	205687522	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	tccggttcctcatcttcttcTttgggagaaggagtcttttc	9	10	5	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:205687522T>C	ENST00000367142.4	-	7	920	c.618A>G	c.(616-618)aaA>aaG	p.K206K	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	206	Lys-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CATCTTCTTCTTTGGGAGAAG	0.493																																						ENST00000367142.4																			0				endometrium(4)|large_intestine(1)|lung(9)	14						c.(616-618)aaA>aaG		nuclear casein kinase and cyclin-dependent kinase substrate 1							167	189	181					1																	205687522		2203	4300	6503	SO:0001819	synonymous_variant	64710					nucleus		g.chr1:205687522T>C		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.618A>G	1.37:g.205687522T>C							p.K206K	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		7	920	-	Breast(84;0.07)		206			Lys-rich.		Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Silent	SNP	ENST00000367142.4	37	c.618A>G	CCDS30987.1																																																																																				0.493	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		93	155	0	0	0	1	0	93	155					C	205687522	T	C	205687522	2	2	85	1	0	0	0	0	0	0	0	1	10720	1606	56	4		4	NUCKS1	1	205687522	Silent	SNP	T	TCGA-RW-A68F-01A-11D-A35D-08	96348588	205687522	43563099	3	1583										
RNF149	284996	broad.mit.edu	37	chr2	101893717	101893717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gtgctaggagatgggtcctcCatgccgagagtcactcctgc	13	12	1	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr2:101893717C>T	ENST00000295317.3	-	7	1293	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396					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)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGGGTCCTCCATGCCGAGAG	0.458																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1186-1188)Gga>Aga		ring finger protein 149							48	48	48					2																	101893717		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101893717C>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.1186G>A	2.37:g.101893717C>T	ENSP00000295317:p.Gly396Arg						p.G396R	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			7	1293	-			396					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1186G>A	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884821	0.33255	.	.	ENSG00000163162	ENST00000295317	T	0.09911	2.93	4.65	4.65	0.58169	.	0.583811	0.16579	N	0.208283	T	0.12475	0.0303	L	0.34521	1.04	0.09310	N	0.999996	P	0.44627	0.839	P	0.44394	0.448	T	0.08576	-1.0715	10	0.87932	D	0	.	13.3989	0.60870	0.0:1.0:0.0:0.0	.	396	Q8NC42	RN149_HUMAN	R	396	ENSP00000295317:G396R	ENSP00000295317:G396R	G	-	1	0	RNF149	101260149	0.963000	0.33076	0.010000	0.14722	0.006000	0.05464	3.398000	0.52579	2.306000	0.77630	0.563000	0.77884	GGA		0.458	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		15	29	0	0	0	1	0	15	29					T	101893717	C	T	101893717	3	4	85	1	0	0	0	0	1	0	0	0	13450	603	21	3	20	3	RNF149	2	101893717	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		101893717	141305656	4	1584										
C3orf20	84077	broad.mit.edu	37	chr3	14745942	14745942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	ctctcatctaatgttggcccGcaaaggagactctcagaccc	8	14	3	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:14745942G>A	ENST00000253697.3	+	7	1429	c.977G>A	c.(976-978)cGc>cAc	p.R326H	C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	326						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R326H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGTTGGCCCGCAAAGGAGAC	0.517																																						ENST00000253697.3																			1	Substitution - Missense(1)	p.R326H(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(976-978)cGc>cAc		chromosome 3 open reading frame 20							134	144	141					3																	14745942		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14745942G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.977G>A	3.37:g.14745942G>A	ENSP00000253697:p.Arg326His					C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H	p.R326H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			7	1429	+			326					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.977G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	1.916	-0.449558	0.04572	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08370	3.38;3.1;3.1	4.25	-8.49	0.00931	.	2.180750	0.01920	N	0.040451	T	0.02688	0.0081	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37033	-0.9723	10	0.14252	T	0.57	-9.0E-4	3.2852	0.06929	0.5612:0.118:0.0931:0.2277	.	326	Q8ND61	CC020_HUMAN	H	326;204;204	ENSP00000253697:R326H;ENSP00000402933:R204H;ENSP00000396081:R204H	ENSP00000253697:R326H	R	+	2	0	C3orf20	14720946	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.564000	0.00429	-2.339000	0.00626	-2.887000	0.00096	CGC		0.517	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		4	122	0	0	0	1	0	4	122					A	14745942	G	A	14745942	3	1	85	1	0	0	0	0	1	0	0	0	2213	1087	38	1	995	1	C3orf20	3	14745942	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		14745942	183276488	5	1585										
CCR8	1237	broad.mit.edu	37	chr3	39374010	39374010	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	catcctggtccttgtggtctGcaagaagctgaggagcatca	12	10	2	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:39374010G>A	ENST00000326306.4	+	2	326	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	63					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTGTGGTCTGCAAGAAGCTG	0.478																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(187-189)tGc>tAc		chemokine (C-C motif) receptor 8							242	217	225					3																	39374010		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374010G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.188G>A	3.37:g.39374010G>A	ENSP00000326432:p.Cys63Tyr					CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	p.C63Y	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	326	+			63					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.188G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107220	0.06924	.	.	ENSG00000179934	ENST00000326306	T	0.71103	-0.54	4.97	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.404790	0.27193	N	0.020498	T	0.45094	0.1325	N	0.12887	0.27	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20273	-1.0280	10	0.07644	T	0.81	.	7.9895	0.30231	0.2838:0.0:0.7162:0.0	.	63	P51685	CCR8_HUMAN	Y	63	ENSP00000326432:C63Y	ENSP00000326432:C63Y	C	+	2	0	CCR8	39349014	0.000000	0.05858	0.992000	0.48379	0.513000	0.34164	0.248000	0.18198	0.633000	0.30452	-0.244000	0.11960	TGC		0.478	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		4	161	0	0	0	1	0	4	161					A	39374010	G	A	39374010	3	1	85	1	0	0	0	0	1	0	0	0	2947	1319	46	3	190	3	CCR8	3	39374010	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	24628068	39374010	158648420	6	1586										
ZMYND10	51364	broad.mit.edu	37	chr3	50379081	50379081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gcagtaagcacagcggggccGctctggagccactgcctcta	13	14	2	0	rs150467144	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:50379081G>A	ENST00000231749.3	-	11	2443	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	391	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCGGGGCCGCTCTGGAGCC	0.602										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(1171-1173)Cgg>Tgg		zinc finger, MYND-type containing 10		G	TRP/ARG	0,4406		0,0,2203	56	59	58		1171	-1	0.9	3	dbSNP_134	58	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZMYND10	NM_015896.2	101	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	391/441	50379081	6,13000	2203	4300	6503	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379081G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1171C>T	3.37:g.50379081G>A	ENSP00000231749:p.Arg391Trp	TSP Lung(30;0.18)				ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA	p.R391W	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	2443	-			391					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.1171C>T	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829812	0.71258	0.0	6.98E-4	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	5.57	-1.04	0.10068	.	0.097978	0.64402	D	0.000002	T	0.46639	0.1403	N	0.14661	0.345	0.35609	D	0.808469	D;D	0.71674	0.998;0.997	P;P	0.58970	0.849;0.692	T	0.57837	-0.7742	9	0.72032	D	0.01	-8.3753	11.8423	0.52361	0.0:0.0812:0.1619:0.7569	.	386;391	O75800-2;O75800	.;ZMY10_HUMAN	W	391;386	.	ENSP00000231749:R391W	R	-	1	2	ZMYND10	50354085	1.000000	0.71417	0.911000	0.35937	0.718000	0.41266	3.108000	0.50337	-0.056000	0.13221	-0.181000	0.13052	CGG		0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		4	59	0	0	0	1	0	4	59					A	50379081	G	A	50379081	3	1	85	1	0	0	0	0	1	0	0	0	17702	1086	38	1	159	1	ZMYND10	3	50379081	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	11005071	50379081	147643349	7	1587										
QRFPR	84109	broad.mit.edu	37	chr4	122250693	122250693	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	atttccatgcctttgtgctgGagagaaggttttatttacta	9	6	0	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr4:122250693G>C	ENST00000394427.2	-	6	1483	c.1072C>G	c.(1072-1074)Cca>Gca	p.P358A	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	358					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTTTGTGCTGGAGAGAAGGTT	0.368																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1072-1074)Cca>Gca		pyroglutamylated RFamide peptide receptor							134	132	133					4																	122250693		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250693G>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1072C>G	4.37:g.122250693G>C	ENSP00000377948:p.Pro358Ala					QRFPR_ENST00000334383.5_3'UTR	p.P358A	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1483	-			358						Missense_Mutation	SNP	ENST00000394427.2	37	c.1072C>G	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688663	0.68271	.	.	ENSG00000186867	ENST00000394427	T	0.36699	1.24	5.32	5.32	0.75619	.	0.073596	0.56097	D	0.000023	T	0.27278	0.0669	L	0.36672	1.1	0.80722	D	1	P	0.48294	0.908	B	0.41860	0.368	T	0.03795	-1.1003	10	0.08837	T	0.75	.	13.3168	0.60411	0.0764:0.0:0.9236:0.0	.	358	Q96P65	QRFPR_HUMAN	A	358	ENSP00000377948:P358A	ENSP00000377948:P358A	P	-	1	0	QRFPR	122470143	1.000000	0.71417	0.738000	0.30950	0.439000	0.31926	2.572000	0.45999	2.499000	0.84300	0.491000	0.48974	CCA		0.368	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		6	140	0	0	0	1	0	6	140					C	122250693	G	C	122250693	3	2	85	1	0	0	0	0	1	0	0	0	12878	1174	41	5	227	5	QRFPR	4	122250693	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		122250693	68903583	8	1588										
BDP1	55814	broad.mit.edu	37	chr5	70757730	70757730	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	atgagagacttcatatattaTctaccagataataatccaat	4	7	2	3			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr5:70757730T>C	ENST00000358731.4	+	3	839	c.576T>C	c.(574-576)taT>taC	p.Y192Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	192	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCATATATTATCTACCAGATA	0.308																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(574-576)taT>taC		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							80	84	83					5																	70757730		1855	4097	5952	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70757730T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.576T>C	5.37:g.70757730T>C						BDP1_ENST00000380675.2_5'UTR	p.Y192Y	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	3	839	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	192			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.576T>C	CCDS43328.1																																																																																				0.308	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		8	148	0	0	0	1	0	8	148					C	70757730	T	C	70757730	2	2	85	1	0	0	0	0	0	0	0	1	1395	1442	50	4		4	BDP1	5	70757730	Silent	SNP	T	TCGA-RW-A68F-01A-11D-A35D-08		70757730	110157530	9	1589										
KIAA0319	9856	broad.mit.edu	37	chr6	24596193	24596193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	agatggagtagtcggcaaggGaagcaacacacttctctcag	12	9	2	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr6:24596193G>A	ENST00000378214.3	-	3	1233	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	KIAA0319_ENST00000535378.1_Missense_Mutation_p.P228S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCGGCAAGGGAAGCAACACA	0.542																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(682-684)Ccc>Tcc		KIAA0319							79	75	76					6																	24596193		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596193G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.709C>T	6.37:g.24596193G>A	ENSP00000367459:p.Pro237Ser					KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S	p.P228S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1324	-			237					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.682C>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	9.583	1.124025	0.20959	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08720	3.06;3.16;3.17;3.08;3.08	3.31	0.961	0.19638	.	1.195290	0.06264	N	0.694525	T	0.00845	0.0028	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16603	0.018;0.017;0.01	B;B;B	0.14578	0.011;0.011;0.005	T	0.41124	-0.9526	10	0.02654	T	1	-3.2495	0.5261	0.00620	0.3815:0.1767:0.2628:0.179	.	237;228;237	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	S	237;228;192;237;237	ENSP00000439700:P237S;ENSP00000442403:P228S;ENSP00000401086:P192S;ENSP00000367459:P237S;ENSP00000437656:P237S	ENSP00000367459:P237S	P	-	1	0	KIAA0319	24704172	0.000000	0.05858	0.333000	0.25482	0.773000	0.43773	-0.387000	0.07361	0.405000	0.25532	0.609000	0.83330	CCC		0.542	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		15	64	0	0	0	1	0	15	64					A	24596193	G	A	24596193	3	1	85	1	0	0	0	0	1	0	0	0	8168	1174	41	3	2585	3	KIAA0319	6	24596193	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		24596193	146518874	10	1590										
MTHFD1L	25902	broad.mit.edu	37	chr6	151336057	151336057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	ggctgctgtaacctccagaaGcaaattcagatcactcagct	8	12	3	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr6:151336057G>A	ENST00000367321.3	+	23	2623	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	783	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCTCCAGAAGCAAATTCAGA	0.478											OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2347-2349)aaG>aaA		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							140	118	125					6																	151336057		2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151336057G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2349G>A	6.37:g.151336057G>A			OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1739		p.K783K	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	23	2623	+		Ovarian(120;0.128)	783			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.2349G>A	CCDS5228.1																																																																																				0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		4	73	0	0	0	1	0	4	73					A	151336057	G	A	151336057	2	1	85	1	0	0	0	0	0	0	0	1	9928	962	34	3		3	MTHFD1L	6	151336057	Silent	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	126739864	151336057	19779010	11	1591										
SEMA3E	9723	broad.mit.edu	37	chr7	83029537	83029537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	ggatagtccttggtggttccGtatctccctccatttacttt	8	11	1	0	rs370540865		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:83029537G>A	ENST00000307792.3	-	11	1640	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	SEMA3E_ENST00000427262.1_Silent_p.Y331Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	391	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGGTGGTTCCGTATCTCCCTC	0.388																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1171-1173)taC>taT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E		A	,	0,4406		0,0,2203	164	152	156		993,1173	-11	0	7		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SEMA3E	NM_001178129.1,NM_012431.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	331/716,391/776	83029537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029537G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1173C>T	7.37:g.83029537G>A						SEMA3E_ENST00000427262.1_Silent_p.Y331Y	p.Y391Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			11	1640	-		Medulloblastoma(109;0.109)	391			Sema.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1173C>T	CCDS34674.1																																																																																				0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		4	105	0	0	0	1	0	4	105					A	83029537	G	A	83029537	2	1	85	1	0	0	0	0	0	0	0	1	14028	1140	40	1		1	SEMA3E	7	83029537	Silent	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		83029537	76109126	12	1592										
NUP205	23165	broad.mit.edu	37	chr7	135323404	135323404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	tcactcctagcctttcagaaAcagttaatagagatggaccg	8	10	2	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:135323404A>G	ENST00000285968.6	+	38	5391	c.5365A>G	c.(5365-5367)Aca>Gca	p.T1789A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1789					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTTTCAGAAACAGTTAATAG	0.438																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(5365-5367)Aca>Gca		nucleoporin 205kDa							194	173	180					7																	135323404		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135323404A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5365A>G	7.37:g.135323404A>G	ENSP00000285968:p.Thr1789Ala						p.T1789A	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			38	5391	+			1789					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.5365A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	a	11.32	1.602956	0.28534	.	.	ENSG00000155561	ENST00000285968	T	0.28069	1.63	5.26	5.26	0.73747	.	0.215876	0.48767	D	0.000169	T	0.16685	0.0401	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11036	-1.0604	10	0.14656	T	0.56	-8.3772	10.2345	0.43275	0.8141:0.0:0.0:0.1859	.	1789	Q92621	NU205_HUMAN	A	1789	ENSP00000285968:T1789A	ENSP00000285968:T1789A	T	+	1	0	NUP205	134973944	1.000000	0.71417	0.881000	0.34555	0.796000	0.44982	2.463000	0.45058	1.989000	0.58080	0.377000	0.23210	ACA		0.438	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	161	0	0	0	1	0	5	161					G	135323404	A	G	135323404	3	3	85	1	0	0	0	0	1	0	0	0	10759	43	2	4	5515	4	NUP205	7	135323404	Missense_Mutation	SNP	A	TCGA-RW-A68F-01A-11D-A35D-08	52293867	135323404	23815259	13	1593										
UBE2W	55284	broad.mit.edu	37	chr8	74737421	74737421	+	Frame_Shift_Del	DEL	T	T	-													0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	tatcgactactaaatttaaaTagaagttgaaatttttcccc							TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr8:74737421delT	ENST00000602593.1	-	3	223	c.171delA	c.(169-171)ctafs	p.L57fs	RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000517608.1_Frame_Shift_Del_p.L86fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.L97fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.L68fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	57					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TAAATTTAAATAGAAGTTGAA	0.313																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(256-258)ctfs		ubiquitin-conjugating enzyme E2W (putative)							42	39	40					8																	74737421		1786	4067	5853	SO:0001589	frameshift_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74737421delT	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"Ubiquitin-conjugating enzymes E2"	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.171delA	8.37:g.74737421delT	ENSP00000473561:p.Leu57fs					UBE2W_ENST00000602969.1_Frame_Shift_Del_p.L68fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.L97fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000602593.1_Frame_Shift_Del_p.L57fs	p.L86fs			Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		3	258	-	Breast(64;0.0311)		57					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	ENST00000602593.1	37	c.258delA																																																																																					0.313	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		2	4						2	4	---	---	---	---	-	74737421	T	-	74737421	7	5	85	1	0	1	0	1	0	0	0	0	16874	1393	49	0	300	0	UBE2W	8	74737421	Frame_Shift_Del	DEL	T	TCGA-RW-A68F-01A-11D-A35D-08		74737421	71626601	14	1594										
TMEM2	23670	broad.mit.edu	37	chr9	74360015	74360015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	cttgtaagagacttttagcgGctgaatccccgacagctatg	10	10	0	2			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr9:74360015G>A	ENST00000377044.4	-	4	1492	c.953C>T	c.(952-954)gCc>gTc	p.A318V	TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	318					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTTTTAGCGGCTGAATCCCC	0.507																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(952-954)gCc>gTc		transmembrane protein 2							138	129	132					9																	74360015		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360015G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.953C>T	9.37:g.74360015G>A	ENSP00000366243:p.Ala318Val					TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V	p.A318V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1492	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	318					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.953C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768401	0.69878	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.76709	-1.01;-1.04	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	M	0.69823	2.125	0.80722	D	1	B;P	0.36990	0.441;0.577	B;B	0.38428	0.141;0.273	T	0.77566	-0.2540	10	0.46703	T	0.11	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	318;318	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	318	ENSP00000366243:A318V;ENSP00000366266:A318V	ENSP00000366243:A318V	A	-	2	0	TMEM2	73549835	1.000000	0.71417	0.996000	0.52242	0.724000	0.41520	7.415000	0.80131	2.861000	0.98227	0.655000	0.94253	GCC		0.507	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		4	150	0	0	0	1	0	4	150					A	74360015	G	A	74360015	3	1	85	1	0	0	0	0	1	0	0	0	16118	1203	42	3	3282	3	TMEM2	9	74360015	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08		74360015	66853416	15	1595										
FZD8	8325	broad.mit.edu	37	chr10	35928890	35928890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gccgatgaagaggtagatgaCcagcggcgccagcacgaagc	15	11	0	4			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr10:35928890C>A	ENST00000374694.1	-	1	1472	c.1468G>T	c.(1468-1470)Gtc>Ttc	p.V490F	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	490					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTAGATGACCAGCGGCGCC	0.662																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(1468-1470)Gtc>Ttc		frizzled family receptor 8							49	40	43					10																	35928890		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35928890C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1468G>T	10.37:g.35928890C>A	ENSP00000363826:p.Val490Phe						p.V490F	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	1472	-			490						Missense_Mutation	SNP	ENST00000374694.1	37	c.1468G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	7.844	0.722464	0.15439	.	.	ENSG00000177283	ENST00000374694	D	0.82344	-1.6	3.81	3.81	0.43845	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.67627	0.2913	N	0.10685	0.025	0.46774	D	0.999193	B	0.31640	0.333	B	0.40329	0.326	T	0.64394	-0.6418	10	0.02654	T	1	.	12.2614	0.54652	0.0:0.7731:0.2269:0.0	.	490	Q9H461	FZD8_HUMAN	F	490	ENSP00000363826:V490F	ENSP00000363826:V490F	V	-	1	0	FZD8	35968896	0.999000	0.42202	1.000000	0.80357	0.318000	0.28184	2.411000	0.44600	2.104000	0.64026	0.289000	0.19496	GTC		0.662	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	24	1	0	0.115264	1	0.115264	3	24					A	35928890	C	A	35928890	3	1	85	1	0	0	0	0	1	0	0	0	6136	507	18	5	620	5	FZD8	10	35928890	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		35928890	99605857	16	1596										
LRRC27	80313	broad.mit.edu	37	chr10	134169317	134169317	+	Frame_Shift_Del	DEL	G	G	-													0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gaaaagggcactgcaggagtGgagagagcgagcccagagga							TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr10:134169317delG	ENST00000368614.3	+	8	1202	c.1097delG	c.(1096-1098)tggfs	p.W366fs	LRRC27_ENST00000368610.3_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000368612.1_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000432555.2_Frame_Shift_Del_p.W239fs|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Frame_Shift_Del_p.W366fs	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	366										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGCAGGAGTGGAGAGAGCGA	0.572																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(910-912)tgfs		leucine rich repeat containing 27							89	74	79					10																	134169317		2177	4248	6425	SO:0001589	frameshift_variant	80313							g.chr10:134169317delG	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1097delG	10.37:g.134169317delG	ENSP00000357603:p.Trp366fs					LRRC27_ENST00000368612.1_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000432555.2_Frame_Shift_Del_p.W239fs|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Frame_Shift_Del_p.W366fs|LRRC27_ENST00000368613.4_Frame_Shift_Del_p.W366fs	p.W304fs			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	7	911	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	366					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Frame_Shift_Del	DEL	ENST00000368614.3	37	c.911delG	CCDS31316.1																																																																																				0.572	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		2	4						2	4	---	---	---	---	-	134169317	G	-	134169317	7	5	85	1	0	1	0	1	0	0	0	0	8981	1357	47	0	1305	0	LRRC27	10	134169317	Frame_Shift_Del	DEL	G	TCGA-RW-A68F-01A-11D-A35D-08	98240427	134169317	1365430	17	1597										
SLC35C1	55343	broad.mit.edu	37	chr11	45827751	45827751	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	atgatcaccttcaataacctCtgcctcaagtacgtcggtgt	7	12	4	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:45827751C>G	ENST00000314134.3	+	1	1795	c.399C>G	c.(397-399)ctC>ctG	p.L133L	SLC35C1_ENST00000456334.1_Silent_p.L120L|SLC35C1_ENST00000442528.2_Silent_p.L120L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	133					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCAATAACCTCTGCCTCAAGT	0.607																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(397-399)ctC>ctG		solute carrier family 35 (GDP-fucose transporter), member C1							146	106	120					11																	45827751		2203	4299	6502	SO:0001819	synonymous_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827751C>G		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"Solute carriers"	20197	protein-coding gene	gene with protein product		605881	"solute carrier family 35, member C1"			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.399C>G	11.37:g.45827751C>G						SLC35C1_ENST00000456334.1_Silent_p.L120L|SLC35C1_ENST00000442528.2_Silent_p.L120L	p.L133L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1795	+			133					B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	c.399C>G	CCDS7914.1																																																																																				0.607	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		28	10	0	0	0	1	0	28	10					G	45827751	C	G	45827751	2	3	85	1	0	0	0	0	0	0	0	1	14579	900	32	5		5	SLC35C1	11	45827751	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		45827751	89178765	18	1598										
MACROD1	28992	broad.mit.edu	37	chr11	63767229	63767229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	cgatgggccccactgtgtggAtgacgtctacggggggcgac	17	11	1	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:63767229A>G	ENST00000255681.6	-	6	737	c.671T>C	c.(670-672)aTc>aCc	p.I224T	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	224	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CACTGTGTGGATGACGTCTAC	0.701																																						ENST00000255681.6																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(670-672)aTc>aCc		MACRO domain containing 1							11	15	13					11																	63767229		2150	4213	6363	SO:0001583	missense	28992							g.chr11:63767229A>G	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.671T>C	11.37:g.63767229A>G	ENSP00000255681:p.Ile224Thr					OTUB1_ENST00000535715.1_Intron	p.I224T	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN			6	737	-			224			Macro.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.671T>C	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815861	0.50527	.	.	ENSG00000133315	ENST00000255681	T	0.33438	1.41	3.77	3.77	0.43336	Appr-1-p processing (3);	0.000000	0.52532	U	0.000067	T	0.70307	0.3209	H	0.99464	4.58	0.52099	D	0.999949	D	0.89917	1.0	D	0.87578	0.998	T	0.78919	-0.2014	10	0.87932	D	0	-16.7618	9.1662	0.37052	1.0:0.0:0.0:0.0	.	224	Q9BQ69	MACD1_HUMAN	T	224	ENSP00000255681:I224T	ENSP00000255681:I224T	I	-	2	0	MACROD1	63523805	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	1.498000	0.35660	1.499000	0.48617	0.260000	0.18958	ATC		0.701	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		3	3	0	0	0	1	0	3	3					G	63767229	A	G	63767229	3	3	85	1	0	0	0	0	1	0	0	0	9145	333	12	4	326	4	MACROD1	11	63767229	Missense_Mutation	SNP	A	TCGA-RW-A68F-01A-11D-A35D-08	17939478	63767229	71239287	19	1599										
RSF1	51773	broad.mit.edu	37	chr11	77386295	77386295	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	tcagacacaacaaactcatcTtgagatctgtccaagagaaa	6	10	4	3			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:77386295T>C	ENST00000308488.6	-	14	3650	c.3348A>G	c.(3346-3348)caA>caG	p.Q1116Q	RSF1_ENST00000360355.2_Silent_p.Q1085Q|RSF1_ENST00000480887.1_Silent_p.Q864Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAAACTCATCTTGAGATCTGT	0.398																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3346-3348)caA>caG		remodeling and spacing factor 1							75	71	73					11																	77386295		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77386295T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3348A>G	11.37:g.77386295T>C						RSF1_ENST00000480887.1_Silent_p.Q864Q|RSF1_ENST00000360355.2_Silent_p.Q1085Q	p.Q1116Q			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		14	3650	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1116					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.3348A>G	CCDS8253.1																																																																																				0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		16	8	0	0	0	1	0	16	8					C	77386295	T	C	77386295	2	2	85	1	0	0	0	0	0	0	0	1	13699	1606	56	4		4	RSF1	11	77386295	Silent	SNP	T	TCGA-RW-A68F-01A-11D-A35D-08	13619066	77386295	57620221	20	1600										
SLC38A4	55089	broad.mit.edu	37	chr12	47172479	47172479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	attaccacatgcattggaagCgtgttgttgaatgacagatt	10	6	0	3			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:47172479C>T	ENST00000447411.1	-	10	1004	c.798G>A	c.(796-798)acG>acA	p.T266T	SLC38A4_ENST00000266579.4_Silent_p.T266T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCATTGGAAGCGTGTTGTTGA	0.428																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(796-798)acG>acA		solute carrier family 38, member 4							101	93	96					12																	47172479		2203	4299	6502	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172479C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.798G>A	12.37:g.47172479C>T						SLC38A4_ENST00000266579.4_Silent_p.T266T	p.T266T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			10	1004	-	Lung SC(27;0.192)|Renal(347;0.236)		266					A8K553	Silent	SNP	ENST00000447411.1	37	c.798G>A	CCDS8750.1																																																																																				0.428	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			35	46	0	0	0	1	0	35	46					T	47172479	C	T	47172479	2	4	85	1	0	0	0	0	0	0	0	1	14606	755	27	1		1	SLC38A4	12	47172479	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		47172479	86679416	21	1601										
RAB35	11021	broad.mit.edu	37	chr12	120536942	120536942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gtaaaccacaatgaccccgtGggtcccccgataatacctgc	8	15	0	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:120536942G>A	ENST00000229340.5	-	4	432	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	RAB35_ENST00000432953.2_5'Flank|RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y|RAB35_ENST00000543364.1_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	82					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGACCCCGTGGGTCCCCCGA	0.597																																						ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(244-246)Cac>Tac		RAB35, member RAS oncogene family							68	73	71					12																	120536942		2043	4193	6236	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120536942G>A	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"RAB, member RAS oncogene"	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.244C>T	12.37:g.120536942G>A	ENSP00000229340:p.His82Tyr					RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y	p.H82Y	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	4	432	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		82					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.244C>T	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824260	0.90955	.	.	ENSG00000111737	ENST00000229340;ENST00000534951	T;T	0.80824	-1.42;-1.42	4.83	4.83	0.62350	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.968;1.0	D	0.90299	0.4328	10	0.72032	D	0.01	.	18.1178	0.89561	0.0:0.0:1.0:0.0	.	82;82	B4E390;Q15286	.;RAB35_HUMAN	Y	82	ENSP00000229340:H82Y;ENSP00000441883:H82Y	ENSP00000229340:H82Y	H	-	1	0	RAB35	119021325	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	9.578000	0.98200	2.500000	0.84329	0.555000	0.69702	CAC		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			32	33	0	0	0	1	0	32	33					A	120536942	G	A	120536942	3	1	85	1	0	0	0	0	1	0	0	0	12925	1348	47	3	373	3	RAB35	12	120536942	Missense_Mutation	SNP	G	TCGA-RW-A68F-01A-11D-A35D-08	73364463	120536942	13314953	22	1602										
MLXIP	22877	broad.mit.edu	37	chr12	122611891	122611891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	ggctcaataatgccatctggCgggcctggtacatgcagtgt	13	10	2	0			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:122611891C>T	ENST00000319080.7	+	2	634	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGCCATCTGGCGGGCCTGGTA	0.587																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(502-504)Cgg>Tgg		MLX interacting protein							55	54	54					12																	122611891		1947	4159	6106	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122611891C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.502C>T	12.37:g.122611891C>T	ENSP00000312834:p.Arg168Trp						p.R168W			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	2	634	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	168			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.502C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.104927	0.77096	.	.	ENSG00000175727	ENST00000319080	T	0.35973	1.28	5.44	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64685	-0.6349	9	0.87932	D	0	-33.7772	12.485	0.55868	0.4807:0.5193:0.0:0.0	.	168	Q9HAP2	MLXIP_HUMAN	W	168	ENSP00000312834:R168W	ENSP00000312834:R168W	R	+	1	2	MLXIP	121177845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.282000	0.43461	1.221000	0.43506	0.655000	0.94253	CGG		0.587	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		12	15	0	0	0	1	0	12	15					T	122611891	C	T	122611891	3	4	85	1	0	0	0	0	1	0	0	0	9636	759	27	1	508	1	MLXIP	12	122611891	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	2074949	122611891	11240004	23	1603										
WASF3	10810	broad.mit.edu	37	chr13	27255299	27255299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gctggtgacgtgccaccacaCgggcctgcaagccaggctgc	14	15	0	1	rs374111218		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr13:27255299C>T	ENST00000335327.5	+	8	1003	c.825C>T	c.(823-825)caC>caT	p.H275H	WASF3_ENST00000361042.4_Silent_p.H272H	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	275					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGCCACCACACGGGCCTGCAA	0.652																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(814-816)caC>caT		WAS protein family, member 3		C		0,4406		0,0,2203	69	76	73		825	-11.7	0	13		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WASF3	NM_006646.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		275/503	27255299	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255299C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.825C>T	13.37:g.27255299C>T						WASF3_ENST00000335327.5_Silent_p.H275H	p.H272H			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1041	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	275					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.816C>T	CCDS9318.1																																																																																				0.652	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			4	135	0	0	0	1	0	4	135					T	27255299	C	T	27255299	2	4	85	1	0	0	0	0	0	0	0	1	17251	535	19	1		1	WASF3	13	27255299	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		27255299	87914579	24	1604										
DCC	1630	broad.mit.edu	37	chr18	50734115	50734115	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	aattcaccgaatatagtcttCgattcttagcttataatcgc	5	9	3	0			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr18:50734115C>T	ENST00000442544.2	+	11	2405	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	597	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATATAGTCTTCGATTCTTAGC	0.373																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1789-1791)Cga>Tga		deleted in colorectal carcinoma							146	152	150					18																	50734115		2203	4300	6503	SO:0001587	stop_gained	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734115C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1789C>T	18.37:g.50734115C>T	ENSP00000389140:p.Arg597*					DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*	p.R597*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2405	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	597			Fibronectin type-III 2.			Nonsense_Mutation	SNP	ENST00000442544.2	37	c.1789C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	39	7.810868	0.98501	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8105	0.63260	0.1533:0.8467:0.0:0.0	.	.	.	.	X	597;530;445	.	ENSP00000304146:R530X	R	+	1	2	DCC	48988113	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.599000	0.46231	2.775000	0.95449	0.650000	0.86243	CGA		0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	211	0	0	0	1	0	5	211					T	50734115	C	T	50734115	4	4	85	1	0	0	0	0	0	1	0	0	4282	876	31	2	1831	2	DCC	18	50734115	Nonsense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08		50734115	27343133	25	1605										
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	8						7	8	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	85	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-RW-A68F-01A-11D-A35D-08		51239296	104031264	26	1606										
IQSEC2	23096	broad.mit.edu	37	chrX	53268384	53268384	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	agaagggactcacatgaattCtggaagagctgcatgtgcat	12	7	2	3			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:53268384C>A	ENST00000375368.5	-	10	3278	c.3078G>T	c.(3076-3078)caG>caT	p.Q1026H	IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000396435.3_Missense_Mutation_p.Q1036H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1026	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CACATGAATTCTGGAAGAGCT	0.502											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(3106-3108)caG>caT		IQ motif and Sec7 domain 2							94	88	90					X																	53268384		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268384C>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3078G>T	X.37:g.53268384C>A	ENSP00000364517:p.Gln1026His		OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1026H	p.Q1036H	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			11	3308	-			1026			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3108G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.376709	0.82682	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.44083	0.93;0.93;0.93	5.61	5.61	0.85477	.	0.253799	0.40728	N	0.001023	T	0.60547	0.2277	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.80764	0.969;0.994	T	0.62798	-0.6778	10	0.87932	D	0	.	17.3443	0.87306	0.0:1.0:0.0:0.0	.	1036;831	Q5JU85-2;Q5JU85-3	.;.	H	1036;1026;831	ENSP00000379712:Q1036H;ENSP00000364517:Q1026H;ENSP00000364514:Q831H	ENSP00000364514:Q831H	Q	-	3	2	IQSEC2	53285109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.947000	0.63583	2.363000	0.80096	0.511000	0.50034	CAG		0.502	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		4	53	1	0	5.9392e-07	1	6.28856e-07	4	53					A	53268384	C	A	53268384	3	1	85	1	0	0	0	0	1	0	0	0	7818	912	32	5	1378	5	IQSEC2	23	53268384	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	2029088	53268384	102002176	27	1607										
COL4A5	1287	broad.mit.edu	37	chrX	107930801	107930801	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	cctctgttgcacatggatttCttattacacgccacagccag	7	13	2	0			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:107930801C>A	ENST00000361603.2	+	47	4631	c.4387C>A	c.(4387-4389)Ctt>Att	p.L1463I	COL4A5_ENST00000328300.6_Missense_Mutation_p.L1469I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1463	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACATGGATTTCTTATTACACG	0.517									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4405-4407)Ctt>Att		collagen, type IV, alpha 5							139	125	130					X																	107930801		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107930801C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4387C>A	X.37:g.107930801C>A	ENSP00000354505:p.Leu1463Ile					COL4A5_ENST00000361603.2_Missense_Mutation_p.L1463I	p.L1469I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			49	4649	+			1463			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4405C>A	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835026|4.835026	0.91117|0.91117	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	D|D;D	0.86562|0.94330	-2.14|-3.4;-3.4	5.58|5.58	4.7|4.7	0.59300|0.59300	.|C-type lectin fold (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.94118|0.94118	0.8114|0.8114	L|L	0.35487|0.35487	1.065|1.065	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.24317	.|0.101;0.101	.|P;P	.|0.50192	.|0.634;0.634	D|D	0.91469|0.91469	0.5195|0.5195	7|10	0.72032|0.40728	D|T	0.01|0.16	.|.	15.5348|15.5348	0.75993|0.75993	0.0:0.8653:0.1347:0.0|0.0:0.8653:0.1347:0.0	.|.	.|1466;1463	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	L|I	67|1469;1463;1469	ENSP00000423520:F67L|ENSP00000331902:L1469I;ENSP00000354505:L1463I	ENSP00000423520:F67L|ENSP00000331902:L1469I	F|L	+|+	3|1	2|0	COL4A5|COL4A5	107817457|107817457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	4.910000|4.910000	0.63321|0.63321	1.095000|1.095000	0.41419|0.41419	0.600000|0.600000	0.82982|0.82982	TTC|CTT		0.517	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			4	140	1	0	0.00909568	1	0.00935556	4	140					A	107930801	C	A	107930801	3	1	85	1	0	0	0	0	1	0	0	0	3694	913	32	5	4584	5	COL4A5	23	107930801	Missense_Mutation	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	54662417	107930801	47339759	28	1608										
RGAG1	57529	broad.mit.edu	37	chrX	109695456	109695456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	ccagcctctggatcaatgtcCatgctgcaaatgagagcccc	9	14	2	1			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:109695456C>T	ENST00000465301.2	+	3	1857	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	RGAG1_ENST00000540313.1_Silent_p.S537S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	537										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATCAATGTCCATGCTGCAAA	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1609-1611)tcC>tcT		retrotransposon gag domain containing 1							178	162	167					X																	109695456		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695456C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1611C>T	X.37:g.109695456C>T						RGAG1_ENST00000540313.1_Silent_p.S537S	p.S537S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1857	+			537					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1611C>T	CCDS14552.1																																																																																				0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		84	126	0	0	0	1	0	84	126					T	109695456	C	T	109695456	2	4	85	1	0	0	0	0	0	0	0	1	13274	581	21	3		3	RGAG1	23	109695456	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	1764655	109695456	45575104	29	1609										
PAK3	5063	broad.mit.edu	37	chrX	110439691	110439691	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	2	1	0.661728395061728	1.98518518518519	0.397037037037037	1	1	0	gctgactttgggttctgtgcCcagatcactcctgagcaaag	11	11	2	3			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:110439691C>G	ENST00000372010.1	+	17	1717	c.1275C>G	c.(1273-1275)gcC>gcG	p.A425A	PAK3_ENST00000446737.1_Silent_p.A410A|PAK3_ENST00000417227.1_Silent_p.A431A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000372007.5_Silent_p.A410A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000519681.1_Silent_p.A431A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTTCTGTGCCCAGATCACTC	0.433										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1291-1293)gcC>gcG		p21 protein (Cdc42/Rac)-activated kinase 3							127	124	125					X																	110439691		2203	4300	6503	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439691C>G	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"mental retardation, X-linked 47", "p21 (CDKN1A)-activated kinase 3"	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1275C>G	X.37:g.110439691C>G		TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Silent_p.A410A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000372007.4_Silent_p.A410A|PAK3_ENST00000372010.1_Silent_p.A425A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000417227.1_Silent_p.A431A	p.A431A			O75914	PAK3_HUMAN			17	1735	+			425			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.1293C>G	CCDS48153.1																																																																																				0.433	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		13	115	0	0	0	1	0	13	115					G	110439691	C	G	110439691	2	3	85	1	0	0	0	0	0	0	0	1	11402	610	22	5		5	PAK3	23	110439691	Silent	SNP	C	TCGA-RW-A68F-01A-11D-A35D-08	744235	110439691	44830869	30	1610										
NBPF10	100132406	broad.mit.edu	37	chr1	145296418	145296418	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccagctaagggagaagttaCgggaagggagagatgcctcc	15	9	0	2			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr1:145296418C>T	ENST00000342960.5	+	3	375	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	114						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAGAAGTTACGGGAAGGGAG	0.522																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(340-342)Cgg>Tgg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296418C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.340C>T	1.37:g.145296418C>T	ENSP00000345684:p.Arg114Trp					NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	p.R114W	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	375	+	all_hematologic(923;0.032)		114					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.340C>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	6.556	0.470945	0.12461	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.04083	3.71	1.15	0.109	0.14578	.	.	.	.	.	T	0.04227	0.0117	M	0.77820	2.39	0.09310	N	1	.	.	.	.	.	.	T	0.29822	-0.9999	7	0.87932	D	0	.	5.127	0.14890	0.0:0.6223:0.3777:0.0	.	.	.	.	W	114;39;114	ENSP00000345684:R114W	ENSP00000345684:R114W	R	+	1	2	NBPF10	144007775	0.010000	0.17322	0.001000	0.08648	0.044000	0.14063	-1.193000	0.03049	0.058000	0.16222	0.121000	0.15741	CGG		0.522	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	324	0	0	0	1	0	5	324					T	145296418	C	T	145296418	3	4	86	1	0	0	0	0	1	0	0	0	10193	527	19	1	350	1	NBPF10	1	145296418	Missense_Mutation	SNP	C	TCGA-RW-A68G-01A-11D-A35D-08		145296418	103954203	1	1611										
RAD51AP2	729475	broad.mit.edu	37	chr2	17696549	17696549	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttttccatttaaataaacttTggtgacttttgcccatatta	4	7	0	1			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr2:17696549T>C	ENST00000399080.2	-	1	3157	c.3134A>G	c.(3133-3135)cAa>cGa	p.Q1045R		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1045										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAATAAACTTTGGTGACTTTT	0.358																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3133-3135)cAa>cGa		RAD51 associated protein 2							126	115	118					2																	17696549		1825	4085	5910	SO:0001583	missense	729475							g.chr2:17696549T>C	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.3134A>G	2.37:g.17696549T>C	ENSP00000382030:p.Gln1045Arg						p.Q1045R	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	3157	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1045						Missense_Mutation	SNP	ENST00000399080.2	37	c.3134A>G	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896375	0.72639	.	.	ENSG00000214842	ENST00000399080	T	0.37915	1.17	5.3	5.3	0.74995	.	.	.	.	.	T	0.49762	0.1576	L	0.32530	0.975	0.29777	N	0.834311	D	0.76494	0.999	D	0.72075	0.976	T	0.51020	-0.8758	9	0.87932	D	0	-5.417	14.711	0.69232	0.0:0.0:0.0:1.0	.	1045	Q09MP3	R51A2_HUMAN	R	1045	ENSP00000382030:Q1045R	ENSP00000382030:Q1045R	Q	-	2	0	RAD51AP2	17560030	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.896000	0.56266	2.133000	0.65898	0.533000	0.62120	CAA		0.358	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		4	60	0	0	0	1	0	4	60					C	17696549	T	C	17696549	3	2	86	1	0	0	0	0	1	0	0	0	12987	1812	63	4	357	4	RAD51AP2	2	17696549	Missense_Mutation	SNP	T	TCGA-RW-A68G-01A-11D-A35D-08		17696549	225502824	2	1612										
HSPA1L	3305	broad.mit.edu	37	chr6	31779583	31779583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgctacctggttcttggccGcatccccaatgagccgctcg	10	15	1	1			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr6:31779583G>A	ENST00000375654.4	-	2	356	c.167C>T	c.(166-168)gCg>gTg	p.A56V	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	56					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTCTTGGCCGCATCCCCAAT	0.532																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(166-168)gCg>gTg		heat shock 70kDa protein 1-like							123	110	114					6																	31779583		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779583G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.167C>T	6.37:g.31779583G>A	ENSP00000364805:p.Ala56Val					HSPA1L_ENST00000417199.3_Missense_Mutation_p.A56V	p.A56V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	356	-			56					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.167C>T	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	8.636	0.894753	0.17613	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01084	5.36;5.36	4.52	3.65	0.41850	.	.	.	.	.	T	0.01156	0.0038	M	0.86864	2.845	0.80722	D	1	B	0.19935	0.04	B	0.15870	0.014	T	0.23691	-1.0181	9	0.87932	D	0	.	10.2878	0.43577	0.0971:0.0:0.9029:0.0	.	56	P34931	HS71L_HUMAN	V	56	ENSP00000364805:A56V;ENSP00000387691:A56V	ENSP00000364804:A56V	A	-	2	0	HSPA1L	31887562	1.000000	0.71417	0.307000	0.25127	0.017000	0.09413	7.815000	0.86186	1.106000	0.41623	-0.384000	0.06662	GCG		0.532	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	115	0	0	0	1	0	4	115					A	31779583	G	A	31779583	3	1	86	1	0	0	0	0	1	0	0	0	7410	1087	38	1	1762	1	HSPA1L	6	31779583	Missense_Mutation	SNP	G	TCGA-RW-A68G-01A-11D-A35D-08		31779583	139335484	3	1613										
TSPAN13	27075	broad.mit.edu	37	chr7	16818665	16818665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccactcgtgctcgccatgtgCtccaatcataggagaatatg	9	12	1	1			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr7:16818665C>T	ENST00000262067.4	+	5	897	c.464C>T	c.(463-465)gCt>gTt	p.A155V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	155						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		TCGCCATGTGCTCCAATCATA	0.358																																						ENST00000262067.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7						c.(463-465)gCt>gTt		tetraspanin 13							155	147	149					7																	16818665		2203	4300	6503	SO:0001583	missense	27075					integral to plasma membrane|membrane fraction		g.chr7:16818665C>T	AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"Tetraspanins"	21643	protein-coding gene	gene with protein product		613139	"transmembrane 4 superfamily member 13"	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.464C>T	7.37:g.16818665C>T	ENSP00000262067:p.Ala155Val					TSPAN13_ENST00000466195.1_3'UTR	p.A155V	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.188)	5	897	+	Lung NSC(10;0.0494)|all_lung(11;0.109)		155						Missense_Mutation	SNP	ENST00000262067.4	37	c.464C>T	CCDS5363.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877279	0.51801	.	.	ENSG00000106537	ENST00000262067	T	0.78595	-1.19	5.75	4.87	0.63330	.	0.100778	0.64402	D	0.000002	T	0.80237	0.4586	L	0.57536	1.79	0.48511	D	0.999664	P	0.42078	0.77	P	0.50270	0.636	T	0.76176	-0.3055	10	0.17369	T	0.5	-16.0514	14.9314	0.70916	0.0:0.9313:0.0:0.0687	.	155	O95857	TSN13_HUMAN	V	155	ENSP00000262067:A155V	ENSP00000262067:A155V	A	+	2	0	TSPAN13	16785190	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	5.409000	0.66374	1.431000	0.47355	0.561000	0.74099	GCT		0.358	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250178.2	NM_014399		17	58	0	0	0	1	0	17	58					T	16818665	C	T	16818665	3	4	86	1	0	0	0	0	1	0	0	0	16634	797	28	3	482	3	TSPAN13	7	16818665	Missense_Mutation	SNP	C	TCGA-RW-A68G-01A-11D-A35D-08		16818665	142319998	4	1614										
NBEA	26960	broad.mit.edu	37	chr13	35644944	35644944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttttccactttttgcccaatTggataataggcagctcaatg	7	9	1	0			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr13:35644944T>C	ENST00000400445.3	+	10	2060	c.1526T>C	c.(1525-1527)tTg>tCg	p.L509S	NBEA_ENST00000540320.1_Missense_Mutation_p.L509S|NBEA_ENST00000379939.2_Missense_Mutation_p.L509S|NBEA_ENST00000310336.4_Missense_Mutation_p.L509S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	509					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGCCCAATTGGATAATAGG	0.363																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1525-1527)tTg>tCg		neurobeachin							126	121	122					13																	35644944		2203	4300	6503	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35644944T>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1526T>C	13.37:g.35644944T>C	ENSP00000383295:p.Leu509Ser					NBEA_ENST00000310336.4_Missense_Mutation_p.L509S|NBEA_ENST00000540320.1_Missense_Mutation_p.L509S|NBEA_ENST00000379939.2_Missense_Mutation_p.L509S	p.L509S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	10	2060	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	509					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1526T>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536301	0.85812	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.23	5.23	0.72850	.	0.089806	0.46758	D	0.000276	D	0.86306	0.5901	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.87258	0.2277	10	0.49607	T	0.09	.	15.4227	0.75025	0.0:0.0:0.0:1.0	.	509	Q5T321	.	S	509	ENSP00000440951:L509S;ENSP00000383295:L509S;ENSP00000369271:L509S;ENSP00000308534:L509S	ENSP00000308534:L509S	L	+	2	0	NBEA	34542944	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.795000	0.85887	2.118000	0.64928	0.254000	0.18369	TTG		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		11	58	0	0	0	1	0	11	58					C	35644944	T	C	35644944	3	2	86	1	0	0	0	0	1	0	0	0	10187	1821	63	4	1564	4	NBEA	13	35644944	Missense_Mutation	SNP	T	TCGA-RW-A68G-01A-11D-A35D-08		35644944	79524934	5	1615										
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	20	9	0	1	rs537144117	byFrequency	TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	8e-04	0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	3	17	0	0	0	1	0	3	17					T	24424420	C	T	24424420	5	4	86	1	0	0	0	0	0	0	1	0	4492	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-RW-A68G-01A-11D-A35D-08		24424420	82925120	6	1616										
NOMO1	23420	broad.mit.edu	37	chr16	14972620	14972620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccctcccgggagtcctcttaTccctgagcggtggcctgttt	11	15	1	1			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr16:14972620T>C	ENST00000287667.7	+	23	2857	c.2686T>C	c.(2686-2688)Tcc>Ccc	p.S896P		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	896						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGTCCTCTTATCCCTGAGCGG	0.498																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2686-2688)Tcc>Ccc		NODAL modulator 1							190	193	192					16																	14972620		2197	4300	6497	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14972620T>C	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2686T>C	16.37:g.14972620T>C	ENSP00000287667:p.Ser896Pro						p.S896P	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			23	2857	+			896					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2686T>C	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.973037	0.53614	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.08458	3.09	3.19	3.19	0.36642	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.04509	-1.0946	10	0.66056	D	0.02	-21.5814	9.7805	0.40645	0.0:0.0:0.0:1.0	.	896	Q15155	NOMO1_HUMAN	P	896;896;729	ENSP00000287667:S896P	ENSP00000287667:S896P	S	+	1	0	NOMO1	14880121	1.000000	0.71417	0.996000	0.52242	0.407000	0.30961	7.650000	0.83521	1.457000	0.47850	0.327000	0.21459	TCC		0.498	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			16	160	0	0	0	1	0	16	160					C	14972620	T	C	14972620	3	2	86	1	0	0	0	0	1	0	0	0	10531	1435	50	4	2776	4	NOMO1	16	14972620	Missense_Mutation	SNP	T	TCGA-RW-A68G-01A-11D-A35D-08		14972620	75382133	7	1617										
CDH11	1009	broad.mit.edu	37	chr16	65038741	65038741	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	NA	0	1	1	0	acagcatgcccaggcacaccAgggcggcttgtaaacagtag							TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr16:65038741delA	ENST00000268603.4	-	3	647	c.32delT	c.(31-33)ctgfs	p.L11fs	CDH11_ENST00000394156.3_Frame_Shift_Del_p.L11fs|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	11					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGGCACACCAGGGCGGCTTG	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(31-33)cgfs		cadherin 11, type 2, OB-cadherin (osteoblast)							22	28	26					16																	65038741		2190	4293	6483	SO:0001589	frameshift_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038741delA	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.32delT	16.37:g.65038741delA	ENSP00000268603:p.Leu11fs	TSP Lung(24;0.17)				CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Frame_Shift_Del_p.L11fs	p.L11fs			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	485	-		Ovarian(137;0.0973)	11					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Frame_Shift_Del	DEL	ENST00000268603.4	37	c.32delT	CCDS10803.1																																																																																				0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		2	4						2	4	---	---	---	---	-	65038741	A	-	65038741	7	5	86	1	0	1	0	1	0	0	0	0	3097	188	7	0	2402	0	CDH11	16	65038741	Frame_Shift_Del	DEL	A	TCGA-RW-A68G-01A-11D-A35D-08	50066121	65038741	25316012	8	1618										
KIAA1755	85449	broad.mit.edu	37	chr20	36869018	36869018	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttggctcggttgggtttaggAgagtagagggaacacaggac	17	5	0	2			TCGA-RW-A68G-01A-11D-A35D-08	TCGA-RW-A68G-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3090bbdb-582e-46bd-ab43-41c968f4be0c	323d00c1-97c4-48fa-8dd1-6b48bb588fcc	g.chr20:36869018A>G	ENST00000279024.4	-	3	1786	c.1515T>C	c.(1513-1515)tcT>tcC	p.S505S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	505										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGTTTAGGAGAGTAGAGGG	0.507																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1513-1515)tcT>tcC		KIAA1755							133	129	130					20																	36869018		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869018A>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1515T>C	20.37:g.36869018A>G							p.S505S	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1786	-		Myeloproliferative disorder(115;0.00874)	505					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1515T>C	CCDS33467.1																																																																																				0.507	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		5	88	0	0	0	1	0	5	88					G	36869018	A	G	36869018	2	3	86	1	0	0	0	0	0	0	0	1	8257	291	11	4		4	KIAA1755	20	36869018	Silent	SNP	A	TCGA-RW-A68G-01A-11D-A35D-08		36869018	26156502	9	1619										
JUN	3725	broad.mit.edu	37	chr1	59248091	59248091	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	ggcctgcagccgcgggtgctGcacgggcatctgctggggca	18	13	1	0			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:59248091G>A	ENST00000371222.2	-	1	1694	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	218					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CGCGGGTGCTGCACGGGCATC	0.736			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(652-654)Cag>Tag		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						13	17	15					1																	59248091		2121	4212	6333	SO:0001587	stop_gained	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248091G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"basic leucine zipper proteins"	6204	protein-coding gene	gene with protein product		165160	"v-jun avian sarcoma virus 17 oncogene homolog", "v-jun sarcoma virus 17 oncogene homolog (avian)", "jun oncogene"			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.652C>T	1.37:g.59248091G>A	ENSP00000360266:p.Gln218*						p.Q218*	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1694	-	all_cancers(7;8.55e-07)		218					Q6FHM7|Q96G93	Nonsense_Mutation	SNP	ENST00000371222.2	37	c.652C>T	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	46	12.765566	0.99694	.	.	ENSG00000177606	ENST00000371222	.	.	.	4.05	4.05	0.47172	.	0.167469	0.41396	U	0.000897	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.0293	16.4242	0.83809	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000360266:Q218X	Q	-	1	0	JUN	59020679	.	.	1.000000	0.80357	0.969000	0.65631	.	.	2.098000	0.63641	0.561000	0.74099	CAG		0.736	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		4	16	0	0	0	1	0	4	16					A	59248091	G	A	59248091	4	1	87	1	0	0	0	0	0	1	0	0	7969	1328	46	3	347	3	JUN	1	59248091	Nonsense_Mutation	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		59248091	190002530	1	1620										
BRDT	676	broad.mit.edu	37	chr1	92430246	92430246	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	attaagaagcgcttggagaaTaaatattatgcgaaggcttc	10	5	0	2			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:92430246T>C	ENST00000362005.3	+	4	673	c.255T>C	c.(253-255)aaT>aaC	p.N85N	BRDT_ENST00000370389.2_Silent_p.N12N|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Silent_p.N85N	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	85	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCTTGGAGAATAAATATTATG	0.274																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(34-36)aaT>aaC		bromodomain, testis-specific							30	32	31					1																	92430246		2189	4266	6455	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430246T>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.255T>C	1.37:g.92430246T>C						BRDT_ENST00000399546.2_Silent_p.N85N|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000402388.1_Silent_p.N85N|BRDT_ENST00000362005.3_Silent_p.N85N	p.N12N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	960	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	85					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.36T>C	CCDS735.1																																																																																				0.274	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		3	62	0	0	0	1	0	3	62					C	92430246	T	C	92430246	2	2	87	1	0	0	0	0	0	0	0	1	1508	1403	49	4		4	BRDT	1	92430246	Silent	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08	33182155	92430246	156820375	2	1621										
CAPN9	10753	broad.mit.edu	37	chr1	230930958	230930958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	ctgattgtgctcaggtatgcGgatgaggagctccagctgga	15	8	1	2			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr1:230930958G>A	ENST00000271971.2	+	18	2033	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	CAPN9_ENST00000366666.2_Silent_p.A577A|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Silent_p.A614A	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	640	Domain IV.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCAGGTATGCGGATGAGGAGC	0.612																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1840-1842)gcG>gcA		calpain 9							60	51	54					1																	230930958		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230930958G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1920G>A	1.37:g.230930958G>A						CAPN9_ENST00000271971.2_Silent_p.A640A|CAPN9_ENST00000366666.2_Silent_p.A577A|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA	p.A614A	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			17	1924	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	640			Domain IV.|EF-hand 3.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.1842G>A	CCDS1586.1																																																																																				0.612	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		3	22	0	0	0	1	0	3	22					A	230930958	G	A	230930958	2	1	87	1	0	0	0	0	0	0	0	1	2632	1103	39	2		2	CAPN9	1	230930958	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08	138500712	230930958	18319663	3	1622										
RANBP2	5903	broad.mit.edu	37	chr2	109382805	109382805	+	Frame_Shift_Del	DEL	T	T	-													0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	gaagaatggccgtggtgtgaTttttggccaaacaagtagca							TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr2:109382805delT	ENST00000283195.6	+	20	5936	c.5810delT	c.(5809-5811)attfs	p.I1937fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1937					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGTGGTGTGATTTTTGGCCAA	0.413																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5809-5811)atfs		RAN binding protein 2							93	111	105					2																	109382805		2195	4282	6477	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382805delT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5810delT	2.37:g.109382805delT	ENSP00000283195:p.Ile1937fs						p.I1937fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5936	+			1937					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.5810delT	CCDS2079.1																																																																																				0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	493						7	493	---	---	---	---	-	109382805	T	-	109382805	7	5	87	1	0	1	0	1	0	0	0	0	13028	1493	52	0	5888	0	RANBP2	2	109382805	Frame_Shift_Del	DEL	T	TCGA-RW-A7CZ-01A-11D-A35D-08		109382805	133816568	4	1623										
PDZRN3	23024	broad.mit.edu	37	chr3	73432662	73432662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	catctttttgtggctcagttCgagaatgttcatctccttcc	7	11	4	1	rs146957114		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr3:73432662C>T	ENST00000263666.4	-	10	3169	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1019					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1019K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGCTCAGTTCGAGAATGTTC	0.498																																						ENST00000263666.4																			1	Substitution - Missense(1)	p.E1019K(1)	skin(1)	breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3055-3057)Gaa>Aaa		PDZ domain containing ring finger 3		C	LYS/GLU	0,4406		0,0,2203	242	242	242		3055	4.8	0.7	3	dbSNP_134	242	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1019/1067	73432662	1,13005	2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432662C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3055G>A	3.37:g.73432662C>T	ENSP00000263666:p.Glu1019Lys					PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K	p.E1019K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3169	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1019					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3055G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312818	0.40895	0.0	1.16E-4	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.66	4.79	0.61399	.	0.211072	0.48286	D	0.000192	T	0.82195	0.4984	M	0.66939	2.045	0.58432	D	0.999996	D;D;D;D	0.61080	0.981;0.969;0.989;0.969	P;B;P;B	0.52856	0.651;0.306;0.711;0.306	D	0.84308	0.0509	10	0.72032	D	0.01	.	13.8131	0.63274	0.0:0.9261:0.0:0.0739	.	741;736;736;1019	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	K	1019;741;676;676;736	ENSP00000263666:E1019K;ENSP00000442026:E741K;ENSP00000418168:E676K;ENSP00000418484:E676K;ENSP00000418624:E736K	ENSP00000263666:E1019K	E	-	1	0	PDZRN3	73515352	1.000000	0.71417	0.694000	0.30210	0.003000	0.03518	5.842000	0.69417	1.385000	0.46445	0.655000	0.94253	GAA		0.498	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	130	0	0	0	1	0	5	130					T	73432662	C	T	73432662	3	4	87	1	0	0	0	0	1	0	0	0	11709	893	31	2	149	2	PDZRN3	3	73432662	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		73432662	124589768	5	1624										
PLCH1	23007	broad.mit.edu	37	chr3	155241774	155241774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	cctctgcatcatccccaaggTgataaggcaacttcttaccc	6	15	3	1			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr3:155241774T>C	ENST00000340059.7	-	10	1345	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R|PLCH1_ENST00000460012.1_Missense_Mutation_p.H431R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	449					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCCCCAAGGTGATAAGGCAA	0.408																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1291-1293)cAc>cGc		phospholipase C, eta 1							226	209	214					3																	155241774		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155241774T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1346A>G	3.37:g.155241774T>C	ENSP00000345988:p.His449Arg					PLCH1_ENST00000340059.7_Missense_Mutation_p.H449R|PLCH1_ENST00000494598.1_Missense_Mutation_p.H449R|PLCH1_ENST00000447496.2_Missense_Mutation_p.H449R|PLCH1_ENST00000414191.1_Missense_Mutation_p.H431R|PLCH1_ENST00000334686.6_Missense_Mutation_p.H431R	p.H431R			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1649	-			449			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1292A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576726	0.45902	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.48	5.48	0.80851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.382611	0.29838	N	0.011080	T	0.38878	0.1057	L	0.51422	1.61	0.37313	D	0.909219	B;B;B	0.32101	0.356;0.243;0.017	B;B;B	0.36922	0.236;0.119;0.004	T	0.46843	-0.9162	10	0.45353	T	0.12	.	8.2519	0.31732	0.0:0.1184:0.0:0.8816	.	431;449;449	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	R	449;431;449;449;431;431	ENSP00000419100:H449R;ENSP00000417502:H431R;ENSP00000402759:H449R;ENSP00000345988:H449R;ENSP00000335469:H431R;ENSP00000412977:H431R	ENSP00000335469:H431R	H	-	2	0	PLCH1	156724468	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.038000	0.41184	2.073000	0.62155	0.460000	0.39030	CAC		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		46	75	0	0	0	1	0	46	75					C	155241774	T	C	155241774	3	2	87	1	0	0	0	0	1	0	0	0	12037	1696	59	4	3806	4	PLCH1	3	155241774	Missense_Mutation	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08	81809112	155241774	42780656	6	1625										
PDGFRA	5156	broad.mit.edu	37	chr4	55133522	55133522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	tcaaattggtgtacactttgAcggtccccgaggccacggtg	12	11	1	1			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr4:55133522A>G	ENST00000257290.5	+	6	1157	c.826A>G	c.(826-828)Acg>Gcg	p.T276A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	276	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTACACTTTGACGGTCCCCGA	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"Mis, O, T"	"platelet-derived growth factor, alpha-receptor"			"L, M, O"	FIP1L1		"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(826-828)Acg>Gcg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						94	96	95					4																	55133522		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133522A>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.826A>G	4.37:g.55133522A>G	ENSP00000257290:p.Thr276Ala	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.T276A	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1157	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		276			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.826A>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160214	0.38119	.	.	ENSG00000134853	ENST00000257290	T	0.69435	-0.4	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.529761	0.13620	U	0.374486	T	0.70254	0.3203	M	0.73962	2.25	0.80722	D	1	B;B	0.22541	0.053;0.071	B;B	0.31946	0.138;0.09	T	0.64141	-0.6477	10	0.18710	T	0.47	.	15.8997	0.79362	1.0:0.0:0.0:0.0	.	276;276	P16234-3;P16234	.;PGFRA_HUMAN	A	276	ENSP00000257290:T276A	ENSP00000257290:T276A	T	+	1	0	PDGFRA	54828279	1.000000	0.71417	0.478000	0.27316	0.983000	0.72400	5.843000	0.69424	2.165000	0.68154	0.260000	0.18958	ACG		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		3	57	0	0	0	1	0	3	57					G	55133522	A	G	55133522	3	3	87	1	0	0	0	0	1	0	0	0	11661	275	10	4	844	4	PDGFRA	4	55133522	Missense_Mutation	SNP	A	TCGA-RW-A7CZ-01A-11D-A35D-08		55133522	136020754	7	1626										
MCC	4163	broad.mit.edu	37	chr5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	gctgctgctgccgctgccgcCgccgccgccgccgctgctgg	15	20	0	0	rs199741976		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						ENST00000408903.3																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		mutated in colorectal cancers							5	7	7					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	473	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		3	3	0	0	0	1	0	3	3					T	112824054	C	T	112824054	3	4	87	1	0	0	0	0	1	0	0	0	9373	652	23	2	3138	2	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		112824054	68091206	8	1627										
PCDHB10	56126	broad.mit.edu	37	chr5	140574405	140574405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	gaggtgtgtctgacgggaggCcccgggaccagtgagttcaa	17	9	2	2			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:140574405C>T	ENST00000239446.4	+	1	2464	c.2280C>T	c.(2278-2280)ggC>ggT	p.G760G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	760					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACGGGAGGCCCCGGGACCA	0.567																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2278-2280)ggC>ggT									70	79	76					5																	140574405		2203	4300	6503	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574405C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2280C>T	5.37:g.140574405C>T							p.G760G	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2464	+			760					Q96T99	Silent	SNP	ENST00000239446.4	37	c.2280C>T	CCDS4252.1																																																																																				0.567	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		13	81	0	0	0	1	0	13	81					T	140574405	C	T	140574405	2	4	87	1	0	0	0	0	0	0	0	1	11535	726	26	3		3	PCDHB10	5	140574405	Silent	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	27750351	140574405	40340855	9	1628										
TCERG1	10915	broad.mit.edu	37	chr5	145843159	145843159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	aagttctgctgtttcagttgCcacgcctacagttagtgttt	9	9	2	0			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr5:145843159C>T	ENST00000296702.5	+	5	976	c.938C>T	c.(937-939)gCc>gTc	p.A313V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	313	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTCAGTTGCCACGCCTACA	0.458																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(937-939)gCc>gTc		transcription elongation regulator 1							227	214	219					5																	145843159		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843159C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.938C>T	5.37:g.145843159C>T	ENSP00000296702:p.Ala313Val					TCERG1_ENST00000394421.2_Missense_Mutation_p.A313V	p.A313V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	976	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	313			Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.938C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612186	0.46631	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	D;D	0.83837	-1.77;-1.77	5.16	5.16	0.70880	.	0.111756	0.64402	D	0.000007	T	0.76147	0.3947	L	0.29908	0.895	0.34279	D	0.681913	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.75286	-0.3371	10	0.29301	T	0.29	-1.9838	18.6523	0.91435	0.0:1.0:0.0:0.0	.	313;313;313	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	313	ENSP00000296702:A313V;ENSP00000377943:A313V	ENSP00000296702:A313V	A	+	2	0	TCERG1	145823352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.294000	0.65687	2.392000	0.81423	0.563000	0.77884	GCC		0.458	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	154	0	0	0	1	0	4	154					T	145843159	C	T	145843159	3	4	87	1	0	0	0	0	1	0	0	0	15682	739	26	3	956	3	TCERG1	5	145843159	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	5268754	145843159	35072101	10	1629										
AGER	177	broad.mit.edu	37	chr6	32150435	32150435	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	ggagctactgctccaccttcTggctccaccaccaattggac	8	16	1	0			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr6:32150435T>C	ENST00000375076.4	-	7	833	c.732A>G	c.(730-732)ccA>ccG	p.P244P	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Silent_p.P260P|AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000375065.5_Missense_Mutation_p.Q117R|AGER_ENST00000375069.3_Silent_p.P143P|AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375070.3_Silent_p.P275P|RNF5_ENST00000427134.2_Intron	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	244	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CTCCACCTTCTGGCTCCACCA	0.562																																						ENST00000375065.5																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(349-351)cAg>cGg		advanced glycosylation end product-specific receptor							90	88	89					6																	32150435		1511	2708	4219	SO:0001819	synonymous_variant	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32150435T>C	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.732A>G	6.37:g.32150435T>C						AGER_ENST00000375067.3_Silent_p.P230P|AGER_ENST00000375076.4_Silent_p.P244P|AGER_ENST00000375069.3_Silent_p.P143P|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375055.2_Silent_p.P244P|AGER_ENST00000375070.3_Silent_p.P275P|AGER_ENST00000438221.2_Silent_p.P260P	p.Q117R			Q15109	RAGE_HUMAN			4	359	-			0					A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.350A>G	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444244	0.43429	.	.	ENSG00000204305	ENST00000375065	T	0.64438	-0.1	5.06	-0.337	0.12654	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50767	-0.8789	6	0.87932	D	0	-10.266	0.6391	0.00807	0.1721:0.1882:0.1658:0.474	.	.	.	.	R	117	ENSP00000364206:Q117R	ENSP00000364206:Q117R	Q	-	2	0	AGER	32258413	0.968000	0.33430	0.997000	0.53966	0.860000	0.49131	-0.370000	0.07523	-0.179000	0.10654	0.460000	0.39030	CAG		0.562	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		3	46	0	0	0	1	0	3	46					C	32150435	T	C	32150435	2	2	87	1	0	0	0	0	0	0	0	1	379	1567	55	4		4	AGER	6	32150435	Silent	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08		32150435	138964632	11	1630										
ABCF2	10061	broad.mit.edu	37	chr7	150913092	150913092	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	ttgacatgagagtgttttcgGatcatgccatctgtgggtag	13	6	2	2			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr7:150913092G>A	ENST00000287844.2	-	12	1471	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.I454I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	454	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTTTTCGGATCATGCCAT	0.493																																						ENST00000287844.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(1360-1362)atC>atT		ATP-binding cassette, sub-family F (GCN20), member 2							115	101	106					7																	150913092		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150913092G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1362C>T	7.37:g.150913092G>A						ABCF2_ENST00000222388.2_Silent_p.I454I	p.I454I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1471	-			454			ABC transporter 2.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.1362C>T	CCDS5923.1																																																																																				0.493	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		12	96	0	0	0	1	0	12	96					A	150913092	G	A	150913092	2	1	87	1	0	0	0	0	0	0	0	1	66	1164	41	3		3	ABCF2	7	150913092	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		150913092	8225571	12	1631										
CSMD3	114788	broad.mit.edu	37	chr8	113237069	113237069	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	ttcccttccactgactttgcGttggtgtcatacatgggatt	9	10	1	1			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr8:113237069G>A	ENST00000297405.5	-	71	11299	c.11055C>T	c.(11053-11055)aaC>aaT	p.N3685N	CSMD3_ENST00000455883.2_Silent_p.N3516N|CSMD3_ENST00000343508.3_Silent_p.N3645N|CSMD3_ENST00000352409.3_Silent_p.N3615N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3685						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3685K(1)|p.N3645K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGACTTTGCGTTGGTGTCAT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.N3685K(1)|p.N3645K(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11053-11055)aaC>aaT		CUB and Sushi multiple domains 3							391	339	357					8																	113237069		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113237069G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11055C>T	8.37:g.113237069G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.N3516N|CSMD3_ENST00000352409.3_Silent_p.N3615N|CSMD3_ENST00000343508.3_Silent_p.N3645N	p.N3685N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11299	-			3685					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.11055C>T	CCDS6315.1																																																																																				0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		50	114	0	0	0	1	0	50	114					A	113237069	G	A	113237069	2	1	87	1	0	0	0	0	0	0	0	1	3946	1136	40	1		1	CSMD3	8	113237069	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		113237069	33126953	13	1632										
FAM21B	387680	broad.mit.edu	37	chr10	47929869	47929869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	aggctctctgtttggctctcCtcccacatctgttcctcctg	7	16	3	0			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr10:47929869C>T	ENST00000358474.5	+	19	1850	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		617					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTTGGCTCTCCTCCCACATCT	0.453																																						ENST00000358474.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1849-1851)cCt>cTt		family with sequence similarity 21, member B							74	121	112					10																	47929869		654	2760	3414	SO:0001583	missense	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47929869C>T																												ENST00000358474.5:c.1850C>T	10.37:g.47929869C>T	ENSP00000351259:p.Pro617Leu						p.P617L	NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN			19	1850	+			617						Missense_Mutation	SNP	ENST00000358474.5	37	c.1850C>T	CCDS44379.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256847	0.39896	.	.	ENSG00000152726	ENST00000358474;ENST00000535219;ENST00000355876	.	.	.	2.46	2.46	0.29980	.	0.613300	0.16700	N	0.203168	T	0.69744	0.3145	M	0.76002	2.32	0.49687	D	0.999817	D;D	0.89917	0.995;1.0	D;D	0.74674	0.931;0.984	T	0.66540	-0.5898	9	0.28530	T	0.3	-12.929	8.5036	0.33173	0.0:1.0:0.0:0.0	.	617;705	Q5SNT6;B7ZME8	FA21B_HUMAN;.	L	617;454;608	.	ENSP00000348138:P608L	P	+	2	0	FAM21B	47449875	0.828000	0.29307	0.697000	0.30258	0.858000	0.48976	2.228000	0.42981	1.384000	0.46424	0.392000	0.25879	CCT		0.453	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			3	69	0	0	0	1	0	3	69					T	47929869	C	T	47929869	3	4	87	1	0	0	0	0	1	0	0	0	5541	681	24	3	1924	3	FAM21B	10	47929869	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		47929869	87604878	14	1633										
SYT9	143425	broad.mit.edu	37	chr11	7334941	7334941	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	cttcctgatcggaaaacaaaAcaccagactaaagttcacag	6	11	1	2			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:7334941A>T	ENST00000318881.6	+	3	1050	c.813A>T	c.(811-813)aaA>aaT	p.K271N	SYT9_ENST00000396716.2_Missense_Mutation_p.K239N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	271	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGAAAACAAAACACCAGACTA	0.423																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(811-813)aaA>aaT		synaptotagmin IX							169	169	169					11																	7334941		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334941A>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.813A>T	11.37:g.7334941A>T	ENSP00000324419:p.Lys271Asn					SYT9_ENST00000396716.2_Missense_Mutation_p.K239N	p.K271N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1050	+			271			C2 1.			Missense_Mutation	SNP	ENST00000318881.6	37	c.813A>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845115	0.71603	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.72051	-0.62;-0.62	6.17	5.03	0.67393	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.88105	2.93	0.52099	D	0.999941	D	0.76494	0.999	D	0.79784	0.993	D	0.84864	0.0821	9	.	.	.	.	8.0524	0.30585	0.8438:0.0:0.1562:0.0	.	271	Q86SS6	SYT9_HUMAN	N	239;271	ENSP00000379944:K239N;ENSP00000324419:K271N	.	K	+	3	2	SYT9	7291517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.067000	0.41461	1.119000	0.41883	0.533000	0.62120	AAA		0.423	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		6	122	0	0	0	1	0	6	122					T	7334941	A	T	7334941	3	4	87	1	0	0	0	0	1	0	0	0	15478	40	2	5	823	5	SYT9	11	7334941	Missense_Mutation	SNP	A	TCGA-RW-A7CZ-01A-11D-A35D-08		7334941	127671575	15	1634										
SSH3	54961	broad.mit.edu	37	chr11	67079325	67079325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	aaggtggtgagacaggccagCgtgcatgacagtggagagga	18	6	0	3	rs373974857		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:67079325C>T	ENST00000308127.4	+	14	2125	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	649					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S649S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACAGGCCAGCGTGCATGACA	0.642																																						ENST00000308127.4																			1	Substitution - coding silent(1)	p.S649S(1)	lung(1)	NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1945-1947)agC>agT		slingshot protein phosphatase 3		C		1,4399		0,1,2199	68	56	60		1947	-1.9	1	11		60	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154		649/660	67079325	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67079325C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30581	protein-coding gene	gene with protein product		606780	"slingshot homolog 3 (Drosophila)"			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1947C>T	11.37:g.67079325C>T						SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.S384S	p.S649S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	2125	+			649					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1947C>T	CCDS8157.1																																																																																				0.642	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		12	19	0	0	0	1	0	12	19					T	67079325	C	T	67079325	2	4	87	1	0	0	0	0	0	0	0	1	15185	767	27	1		1	SSH3	11	67079325	Silent	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	59744384	67079325	67927191	16	1635										
CD3E	916	broad.mit.edu	37	chr11	118175676	118175676	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	catgaaacaaagatgcagtcGggcactcactggagagttct	11	9	2	3			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr11:118175676G>A	ENST00000361763.4	+	2	300	c.9G>A	c.(7-9)tcG>tcA	p.S3S	CD3E_ENST00000528600.1_Silent_p.S3S	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	3					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGATGCAGTCGGGCACTCACT	0.488																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(7-9)tcG>tcA		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						182	190	187					11																	118175676		2200	4296	6496	SO:0001819	synonymous_variant	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118175676G>A	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.9G>A	11.37:g.118175676G>A						CD3E_ENST00000528600.1_Silent_p.S3S	p.S3S	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	2	300	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	3					A8K997	Silent	SNP	ENST00000361763.4	37	c.9G>A	CCDS31685.1																																																																																				0.488	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		4	120	0	0	0	1	0	4	120					A	118175676	G	A	118175676	2	1	87	1	0	0	0	0	0	0	0	1	3011	1103	39	2		2	CD3E	11	118175676	Silent	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08	51096351	118175676	16830840	17	1636										
FBXO33	254170	broad.mit.edu	37	chr14	39871700	39871700	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	cttatgtctccaaaaagactAaacttctgaaggttcctaca	5	10	2	2			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr14:39871700A>C	ENST00000298097.7	-	2	952	c.615T>G	c.(613-615)ttT>ttG	p.F205L	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	205					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CAAAAAGACTAAACTTCTGAA	0.299																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(613-615)ttT>ttG		F-box protein 33							81	75	77					14																	39871700		2203	4298	6501	SO:0001583	missense	254170							g.chr14:39871700A>C	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"F-boxes /  "other""	19833	protein-coding gene	gene with protein product		609103	"F-box only protein 33"				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.615T>G	14.37:g.39871700A>C	ENSP00000298097:p.Phe205Leu					FBXO33_ENST00000554190.1_Intron	p.F205L	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	2	952	-	Hepatocellular(127;0.213)		205					Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	37	c.615T>G	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	A	0.914	-0.718207	0.03182	.	.	ENSG00000165355	ENST00000298097	T	0.00520	6.85	6.08	4.94	0.65067	.	0.059006	0.64402	D	0.000002	T	0.00241	0.0007	N	0.04203	-0.255	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60772	-0.7197	9	.	.	.	-10.3648	5.9534	0.19259	0.6889:0.0:0.0758:0.2353	.	205	Q7Z6M2	FBX33_HUMAN	L	205	ENSP00000298097:F205L	.	F	-	3	2	FBXO33	38941451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.753000	0.38359	1.128000	0.42052	0.533000	0.62120	TTT		0.299	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			9	19	0	0	0	1	0	9	19					C	39871700	A	C	39871700	3	2	87	1	0	0	0	0	1	0	0	0	5743	359	13	5	1064	5	FBXO33	14	39871700	Missense_Mutation	SNP	A	TCGA-RW-A7CZ-01A-11D-A35D-08		39871700	67477840	18	1637										
CEP152	22995	broad.mit.edu	37	chr15	49034156	49034156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	gaactcacccttcttttccaTcatcctgcaaaatctgttgg	5	13	4	0			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr15:49034156T>A	ENST00000380950.2	-	25	4164	c.3977A>T	c.(3976-3978)gAt>gTt	p.D1326V	CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V|CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1326					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTTTCCATCATCCTGCAA	0.393																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3976-3978)gAt>gTt		centrosomal protein 152kDa							167	155	158					15																	49034156		1891	4112	6003	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49034156T>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3977A>T	15.37:g.49034156T>A	ENSP00000370337:p.Asp1326Val					CEP152_ENST00000399334.3_Missense_Mutation_p.D1270V|CEP152_ENST00000325747.5_Missense_Mutation_p.D1233V	p.D1326V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	25	4164	-		all_lung(180;0.0428)	1270					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.3977A>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629880	0.46944	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.55760	0.59;0.5;0.58	5.93	4.81	0.61882	.	0.751400	0.13167	N	0.408619	T	0.51500	0.1678	L	0.46157	1.445	0.43555	D	0.995863	B;P;P	0.49559	0.302;0.925;0.925	B;B;P	0.44990	0.189;0.387;0.466	T	0.50448	-0.8827	10	0.72032	D	0.01	-3.9114	11.962	0.53013	0.0:0.0675:0.0:0.9325	.	1233;1326;1270	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	1326;1233;1270	ENSP00000370337:D1326V;ENSP00000321000:D1233V;ENSP00000382271:D1270V	ENSP00000321000:D1233V	D	-	2	0	CEP152	46821448	0.999000	0.42202	0.972000	0.41901	0.974000	0.67602	2.960000	0.49161	1.067000	0.40740	-0.256000	0.11100	GAT		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		4	133	0	0	0	1	0	4	133					A	49034156	T	A	49034156	3	1	87	1	0	0	0	0	1	0	0	0	3248	1435	50	5	1167	5	CEP152	15	49034156	Missense_Mutation	SNP	T	TCGA-RW-A7CZ-01A-11D-A35D-08		49034156	53497236	19	1638										
DVL2	1856	broad.mit.edu	37	chr17	7132319	7132319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	cacaatgtccctcagcacccGcacagcgtcatcgttgctca	7	17	3	0	rs377201716		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr17:7132319G>A	ENST00000005340.5	-	9	1285	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	DVL2_ENST00000575458.1_Missense_Mutation_p.R329W|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	335	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						CTCAGCACCCGCACAGCGTCA	0.532																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1003-1005)Cgg>Tgg		dishevelled segment polarity protein 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120	103	109		1003	5.2	1	17		109	0,8600		0,0,4300	no	missense	DVL2	NM_004422.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	335/737	7132319	1,13005	2203	4300	6503	SO:0001583	missense	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.chr17:7132319G>A	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.1003C>T	17.37:g.7132319G>A	ENSP00000005340:p.Arg335Trp					DVL2_ENST00000575458.1_Missense_Mutation_p.R329W	p.R335W	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			9	1285	-			335			PDZ.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1003C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751967	0.89753	2.27E-4	0.0	ENSG00000004975	ENST00000005340	T	0.18502	2.21	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.81914	0.583;0.995	T	0.53858	-0.8379	10	0.87932	D	0	-11.133	16.3333	0.83050	0.0:0.0:1.0:0.0	.	329;335	B4DLQ0;O14641	.;DVL2_HUMAN	W	335	ENSP00000005340:R335W	ENSP00000005340:R335W	R	-	1	2	DVL2	7073043	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	3.808000	0.55598	2.469000	0.83416	0.555000	0.69702	CGG		0.532	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		3	48	0	0	0	1	0	3	48					A	7132319	G	A	7132319	3	1	87	1	0	0	0	0	1	0	0	0	4836	1086	38	1	1235	1	DVL2	17	7132319	Missense_Mutation	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		7132319	74062891	20	1639										
ZNF426	79088	broad.mit.edu	37	chr19	9645923	9645923	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	tgctggtgtcttttcttcatGaaggcaaactgggtccccag	11	10	3	1			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chr19:9645923G>A	ENST00000535489.1	-	2	394	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	ZNF426_ENST00000589289.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTTCTTCATGAAGGCAAACT	0.443																																						ENST00000535489.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(58-60)Cat>Tat		zinc finger protein 426							211	205	207					19																	9645923		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9645923G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.58C>T	19.37:g.9645923G>A	ENSP00000439017:p.His20Tyr					ZNF426_ENST00000589289.1_Missense_Mutation_p.H20Y|ZNF426_ENST00000593003.1_Intron|ZNF426_ENST00000253115.2_Missense_Mutation_p.H20Y	p.H20Y			Q9BUY5	ZN426_HUMAN			2	394	-			20					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.58C>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	g	6.028	0.373617	0.11409	.	.	ENSG00000130818	ENST00000253115;ENST00000535489	T;T	0.05258	3.47;3.47	1.24	1.24	0.21308	.	.	.	.	.	T	0.03783	0.0107	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	9	0.41790	T	0.15	.	5.8633	0.18760	0.0:0.0:1.0:0.0	.	20	Q9BUY5	ZN426_HUMAN	Y	20	ENSP00000253115:H20Y;ENSP00000439017:H20Y	ENSP00000253115:H20Y	H	-	1	0	ZNF426	9506923	0.001000	0.12720	0.027000	0.17364	0.773000	0.43773	0.876000	0.28092	0.977000	0.38444	0.306000	0.20318	CAT		0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		17	199	0	0	0	1	0	17	199					A	9645923	G	A	9645923	3	1	87	1	0	0	0	0	1	0	0	0	17897	1290	45	3	1626	3	ZNF426	19	9645923	Missense_Mutation	SNP	G	TCGA-RW-A7CZ-01A-11D-A35D-08		9645923	49483060	21	1640										
PPP1R3F	89801	broad.mit.edu	37	chrX	49143521	49143521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	tgtgtccctcctggtgcttgCgctgtgcctctctctggctt	11	14	2	0	rs200780292		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:49143521C>T	ENST00000055335.6	+	4	2385	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	790					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGGTGCTTGCGCTGTGCCTC	0.627																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(2368-2370)gCg>gTg		protein phosphatase 1, regulatory subunit 3F							60	46	51					X																	49143521		2203	4300	6503	SO:0001583	missense	89801					integral to membrane		g.chrX:49143521C>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2369C>T	X.37:g.49143521C>T	ENSP00000055335:p.Ala790Val					PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A461V|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A444V|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A444V	p.A790V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	2385	+	Ovarian(276;0.236)		790					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.2369C>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	1.840	-0.467574	0.04476	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.56275	1.02;1.02;0.47;1.02;1.02	5.36	-1.46	0.08800	.	0.527289	0.17202	N	0.183061	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.10450	0.005;0.005;0.001	T	0.30268	-0.9984	10	0.02654	T	1	-0.3008	9.4763	0.38873	0.0:0.3635:0.0:0.6365	.	461;475;790	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	V	444;461;790;444;444	ENSP00000420687:A444V;ENSP00000415548:A461V;ENSP00000055335:A790V;ENSP00000417535:A444V;ENSP00000365359:A444V	ENSP00000055335:A790V	A	+	2	0	PPP1R3F	49030465	0.002000	0.14202	0.469000	0.27204	0.984000	0.73092	-0.505000	0.06367	-0.569000	0.06030	-0.312000	0.09012	GCG		0.627	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		3	24	0	0	0	1	0	3	24					T	49143521	C	T	49143521	3	4	87	1	0	0	0	0	1	0	0	0	12375	768	27	1	2383	1	PPP1R3F	23	49143521	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08		49143521	106127039	22	1641										
AWAT1	158833	broad.mit.edu	37	chrX	69458182	69458182	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	aagtgtgcccaacaccaccaCcctcatcctccagaagcgca	6	18	1	1			TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:69458182C>A	ENST00000374521.3	+	5	622	c.581C>A	c.(580-582)aCc>aAc	p.T194N		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	194					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						AACACCACCACCCTCATCCTC	0.602																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(580-582)aCc>aAc		acyl-CoA wax alcohol acyltransferase 1							110	76	87					X																	69458182		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69458182C>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.581C>A	X.37:g.69458182C>A	ENSP00000363645:p.Thr194Asn						p.T194N	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN			5	622	+			194					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.581C>A	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407720	0.25378	.	.	ENSG00000204195	ENST00000374521	T	0.14516	2.5	4.93	3.09	0.35607	.	0.275241	0.30177	N	0.010232	T	0.13415	0.0325	M	0.64260	1.97	0.40254	D	0.978105	B	0.13145	0.007	B	0.20184	0.028	T	0.08953	-1.0697	10	0.19147	T	0.46	-2.0072	7.4484	0.27223	0.1829:0.7266:0.0:0.0905	.	194	Q58HT5	AWAT1_HUMAN	N	194	ENSP00000363645:T194N	ENSP00000363645:T194N	T	+	2	0	AWAT1	69374907	0.970000	0.33590	0.948000	0.38648	0.188000	0.23474	2.354000	0.44098	0.429000	0.26202	0.600000	0.82982	ACC		0.602	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		8	16	1	0	0.000157383	1	0.00016281	8	16					A	69458182	C	A	69458182	3	1	87	1	0	0	0	0	1	0	0	0	1234	507	18	5	599	5	AWAT1	23	69458182	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	20314661	69458182	85812378	23	1642										
ARMCX3	51566	broad.mit.edu	37	chrX	100880328	100880328	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.498507462686567	0	0.534115138592751	1	1	0	agatgataccgttttgtcccCtcaagagctacaaaaggttc	8	10	1	3	rs375844900		TCGA-RW-A7CZ-01A-11D-A35D-08	TCGA-RW-A7CZ-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48811849-d51d-40bb-b92c-4c8559dd3169	4d8e125a-da32-4482-accf-2dadae1a32f4	g.chrX:100880328C>G	ENST00000341189.4	+	5	1225	c.359C>G	c.(358-360)cCt>cGt	p.P120R	ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	120					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GTTTTGTCCCCTCAAGAGCTA	0.512																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(358-360)cCt>cGt		armadillo repeat containing, X-linked 3							69	61	64					X																	100880328		2199	4291	6490	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100880328C>G	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.359C>G	X.37:g.100880328C>G	ENSP00000340672:p.Pro120Arg					ARMCX3_ENST00000537169.1_Missense_Mutation_p.P120R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.P120R	p.P120R	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1225	+			120					Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.359C>G	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562443	0.45694	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.36520	1.25;1.25	4.08	4.08	0.47627	Armadillo-like helical (1);Armadillo-type fold (1);	0.114870	0.64402	D	0.000013	T	0.49253	0.1546	L	0.55990	1.75	0.44295	D	0.997161	D	0.61697	0.99	D	0.64410	0.925	T	0.41538	-0.9503	9	.	.	.	-13.9273	10.7694	0.46314	0.0:1.0:0.0:0.0	.	120	Q9UH62	ARMX3_HUMAN	R	120	ENSP00000340672:P120R;ENSP00000439032:P120R	.	P	+	2	0	ARMCX3	100766984	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.239000	0.51360	2.305000	0.77605	0.523000	0.50628	CCT		0.512	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		14	81	0	0	0	1	0	14	81					G	100880328	C	G	100880328	3	3	87	1	0	0	0	0	1	0	0	0	961	681	24	5	361	5	ARMCX3	23	100880328	Missense_Mutation	SNP	C	TCGA-RW-A7CZ-01A-11D-A35D-08	31422146	100880328	54390232	24	1643										
OTUD3	23252	broad.mit.edu	37	chr1	20232993	20232993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	gccctttgtgggaggagggtGgcagtggtgccagaatcttt	17	7	1	1			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr1:20232993G>A	ENST00000375120.3	+	7	905	c.904G>A	c.(904-906)Ggc>Agc	p.G302S		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	302					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAGGGTGGCAGTGGTGC	0.468																																						ENST00000375120.3																			0				breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9						c.(904-906)Ggc>Agc		OTU domain containing 3							101	108	106					1																	20232993		1997	4191	6188	SO:0001583	missense	23252							g.chr1:20232993G>A	AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"OTU domain containing"	29038	protein-coding gene	gene with protein product		611758	"OTU domain containing 3"			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.904G>A	1.37:g.20232993G>A	ENSP00000364261:p.Gly302Ser						p.G302S	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	7	905	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	302					O75047	Missense_Mutation	SNP	ENST00000375120.3	37	c.904G>A	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976893	0.53720	.	.	ENSG00000169914	ENST00000375120	T	0.29397	1.57	5.78	5.78	0.91487	.	0.102913	0.64402	D	0.000003	T	0.29423	0.0733	L	0.40543	1.245	0.44006	D	0.996713	B	0.25235	0.121	B	0.26310	0.068	T	0.02596	-1.1136	10	0.37606	T	0.19	.	16.7276	0.85427	0.0:0.0:1.0:0.0	.	302	Q5T2D3	OTUD3_HUMAN	S	302	ENSP00000364261:G302S	ENSP00000364261:G302S	G	+	1	0	OTUD3	20105580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.218000	0.58554	2.729000	0.93468	0.650000	0.86243	GGC		0.468	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			5	8	0	0	0	1	0	5	8					A	20232993	G	A	20232993	3	1	88	1	0	0	0	0	1	0	0	0	11313	1348	47	3	930	3	OTUD3	1	20232993	Missense_Mutation	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		20232993	229017628	1	1644										
LIMS2	55679	broad.mit.edu	37	chr2	128412102	128412102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	ttcatggccttgatgacgcgGccaatgatgaactcacctgg	11	11	2	4			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr2:128412102G>A	ENST00000355119.4	-	4	420	c.255C>T	c.(253-255)ggC>ggT	p.G85G	LIMS2_ENST00000409455.1_Silent_p.G80G|LIMS2_ENST00000324938.5_Silent_p.G109G|LIMS2_ENST00000545738.2_Silent_p.G107G|LIMS2_ENST00000410011.1_Silent_p.G80G|LIMS2_ENST00000409808.2_Silent_p.G80G	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	85	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGATGACGCGGCCAATGATGA	0.607																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(238-240)ggC>ggT		LIM and senescent cell antigen-like domains 2							145	131	136					2																	128412102		2203	4300	6503	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128412102G>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.255C>T	2.37:g.128412102G>A						LIMS2_ENST00000409808.2_Silent_p.G80G|LIMS2_ENST00000355119.4_Silent_p.G85G|LIMS2_ENST00000324938.5_Silent_p.G109G|LIMS2_ENST00000545738.2_Silent_p.G107G|LIMS2_ENST00000410011.1_Silent_p.G80G	p.G80G			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	4	875	-	Colorectal(110;0.1)		85			LIM zinc-binding 2.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.240C>T	CCDS54395.1																																																																																				0.607	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		4	86	0	0	0	1	0	4	86					A	128412102	G	A	128412102	2	1	88	1	0	0	0	0	0	0	0	1	8804	1190	42	3		3	LIMS2	2	128412102	Silent	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		128412102	114787271	2	1645										
CSRNP1	64651	broad.mit.edu	37	chr3	39188103	39188105	+	In_Frame_Del	DEL	GAG	GAG	-													0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	gagactggcacccagaggaaGaggaggaggaggagaccgag							TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr3:39188103_39188105delGAG	ENST00000273153.5	-	2	246_248	c.69_71delCTC	c.(67-72)tcctct>tct	p.23_24SS>S	CSRNP1_ENST00000514182.1_In_Frame_Del_p.23_24SS>S	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	23	Ser-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCAGAGGAAGAGGAGGAGGAGG	0.616																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(67-72)tct>tc		cysteine-serine-rich nuclear protein 1																																				SO:0001651	inframe_deletion	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39188103_39188105delGAG	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.69_71delCTC	3.37:g.39188112_39188114delGAG	ENSP00000273153:p.Ser26del					CSRNP1_ENST00000514182.1_In_Frame_Del_p.SS25del	p.SS25del	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			2	246_248	-			25			Ser-rich.		Q69YY5	In_Frame_Del	DEL	ENST00000273153.5	37	c.69_71delCTC	CCDS2682.1																																																																																				0.616	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		2	4						2	4	---	---	---	---	-	39188105	GAG	-	39188103	7	5	88	1	0	1	0	1	0	0	0	0	3963	942	33	0	1714	0	CSRNP1	3	39188103	In_Frame_Del	DEL	GAG	TCGA-RW-A7D0-01A-11D-A35D-08		39188103	158834327	3	1646										
RICTOR	253260	broad.mit.edu	37	chr5	38950323	38950323	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	cgtatcttcatatgtgagctCgttgaactttctactactaa	6	9	3	2			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr5:38950323C>T	ENST00000357387.3	-	31	3657	c.3627G>A	c.(3625-3627)acG>acA	p.T1209T	RICTOR_ENST00000296782.5_Silent_p.T1209T	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGTGAGCTCGTTGAACTTT	0.393																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(3625-3627)acG>acA		RPTOR independent companion of MTOR, complex 2							216	212	214					5																	38950323		2202	4298	6500	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950323C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3627G>A	5.37:g.38950323C>T						RICTOR_ENST00000296782.5_Silent_p.T1209T	p.T1209T	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			31	3657	-	all_lung(31;0.000396)		1209						Silent	SNP	ENST00000357387.3	37	c.3627G>A	CCDS34148.1																																																																																				0.393	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		4	178	0	0	0	1	0	4	178					T	38950323	C	T	38950323	2	4	88	1	0	0	0	0	0	0	0	1	13358	871	31	2		2	RICTOR	5	38950323	Silent	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		38950323	141964937	4	1647										
ZFP2	80108	broad.mit.edu	37	chr5	178358732	178358732	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	atgtatgtgggaaacacttcAttgaacgatcctcccttact	7	10	1	1			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr5:178358732A>G	ENST00000361362.2	+	5	948	c.418A>G	c.(418-420)Att>Gtt	p.I140V	ZFP2_ENST00000520301.1_Missense_Mutation_p.I140V|ZFP2_ENST00000503510.2_Missense_Mutation_p.I140V|ZFP2_ENST00000523286.1_Missense_Mutation_p.I140V	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAAACACTTCATTGAACGATC	0.413																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(418-420)Att>Gtt		ZFP2 zinc finger protein							59	63	62					5																	178358732		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358732A>G	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.418A>G	5.37:g.178358732A>G	ENSP00000354453:p.Ile140Val					ZFP2_ENST00000520301.1_Missense_Mutation_p.I140V|ZFP2_ENST00000523286.1_Missense_Mutation_p.I140V|ZFP2_ENST00000503510.2_Missense_Mutation_p.I140V	p.I140V	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	948	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	140					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.418A>G	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	9.292	1.050907	0.19827	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	4.71	4.71	0.59529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255631	0.20520	N	0.090703	T	0.03915	0.0110	N	0.03294	-0.36	0.27513	N	0.951621	B	0.24675	0.109	B	0.30943	0.122	T	0.38134	-0.9675	10	0.38643	T	0.18	-5.6166	12.1786	0.54199	1.0:0.0:0.0:0.0	.	140	Q6ZN57	ZFP2_HUMAN	V	140	ENSP00000354453:I140V;ENSP00000430980:I140V;ENSP00000430531:I140V;ENSP00000438114:I140V	ENSP00000354453:I140V	I	+	1	0	ZFP2	178291338	0.001000	0.12720	1.000000	0.80357	0.840000	0.47671	1.373000	0.34272	1.963000	0.57068	0.482000	0.46254	ATT		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		25	29	0	0	0	1	0	25	29					G	178358732	A	G	178358732	3	3	88	1	0	0	0	0	1	0	0	0	17638	217	8	4	420	4	ZFP2	5	178358732	Missense_Mutation	SNP	A	TCGA-RW-A7D0-01A-11D-A35D-08	139408409	178358732	2556528	5	1648										
FAM131B	9715	broad.mit.edu	37	chr7	143053779	143053779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	actccaggtcccggcatcccGcatcctcttcctcctcaggt	7	19	2	0			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr7:143053779G>A	ENST00000409408.1	-	6	2571	c.863C>T	c.(862-864)gCg>gTg	p.A288V	FAM131B_ENST00000409222.3_Missense_Mutation_p.A288V|FAM131B_ENST00000409346.1_Missense_Mutation_p.A288V|FAM131B_ENST00000409578.1_Missense_Mutation_p.A304V|FAM131B_ENST00000443739.2_Missense_Mutation_p.A316V			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	288										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCGGCATCCCGCATCCTCTTC	0.627																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(862-864)gCg>gTg		family with sequence similarity 131, member B							154	163	160					7																	143053779		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143053779G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.863C>T	7.37:g.143053779G>A	ENSP00000387017:p.Ala288Val					FAM131B_ENST00000409578.1_Missense_Mutation_p.A304V|FAM131B_ENST00000409346.1_Missense_Mutation_p.A288V|FAM131B_ENST00000409222.3_Missense_Mutation_p.A288V|FAM131B_ENST00000443739.2_Missense_Mutation_p.A316V	p.A288V			Q86XD5	F131B_HUMAN			6	2571	-	Melanoma(164;0.205)		288					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.863C>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986429	0.35036	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.63	4.74	0.60224	.	0.066130	0.64402	D	0.000020	T	0.07728	0.0194	N	0.02960	-0.455	0.34853	D	0.741856	B;B	0.16802	0.009;0.019	B;B	0.08055	0.003;0.003	T	0.28586	-1.0039	10	0.14252	T	0.57	-0.1234	8.9058	0.35523	0.1855:0.0:0.8145:0.0	.	304;288	Q86XD5-2;Q86XD5	.;F131B_HUMAN	V	316;304;288;292;288;288	ENSP00000410603:A316V;ENSP00000386568:A304V;ENSP00000386984:A288V;ENSP00000387017:A288V;ENSP00000387147:A288V	ENSP00000387147:A288V	A	-	2	0	FAM131B	142763901	0.992000	0.36948	0.962000	0.40283	0.969000	0.65631	2.772000	0.47678	2.644000	0.89710	0.655000	0.94253	GCG		0.627	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		4	151	0	0	0	1	0	4	151					A	143053779	G	A	143053779	3	1	88	1	0	0	0	0	1	0	0	0	5440	1087	38	1	139	1	FAM131B	7	143053779	Missense_Mutation	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		143053779	16084884	6	1649										
PREX2	80243	broad.mit.edu	37	chr8	68934377	68934377	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	aatccggacatttcttttggTaagtgtatatttatgtgtta	8	4	1	0			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr8:68934377T>A	ENST00000288368.4	+	4	718		c.e4+2		PREX2_ENST00000529398.1_Splice_Site	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTCTTTTGGTAAGTGTATAT	0.338																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.e4+2		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							98	93	94					8																	68934377		2202	4300	6502	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68934377T>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.441+2T>A	8.37:g.68934377T>A						PREX2_ENST00000529398.1_Splice_Site		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			4	718	+								B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37		CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022780	0.54683	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	.	.	.	6.04	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6392	0.51222	0.0:0.0685:0.0:0.9315	.	.	.	.	.	-1	.	.	.	+	.	.	PREX2	69096931	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.950000	0.70265	2.317000	0.78254	0.460000	0.39030	.		0.338	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Intron	11	19	0	0	0	1	0	11	19					A	68934377	T	A	68934377	5	1	88	1	0	0	0	0	0	0	1	0	12477	1652	57	5	457	5	PREX2	8	68934377	Splice_Site	SNP	T	TCGA-RW-A7D0-01A-11D-A35D-08		68934377	77429645	7	1650										
OR10A3	26496	broad.mit.edu	37	chr11	7960834	7960834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	agcaccaccagcatttcaggCgtaatgactgcactgaaact	8	12	1	2			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr11:7960834C>T	ENST00000360759.3	-	1	307	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	78					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCATTTCAGGCGTAATGACTG	0.448																																						ENST00000360759.3																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(232-234)acG>acA		olfactory receptor, family 10, subfamily A, member 3							127	115	119					11																	7960834		2201	4296	6497	SO:0001819	synonymous_variant	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960834C>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"GPCR / Class A : Olfactory receptors"	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.234G>A	11.37:g.7960834C>T							p.T78T	NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	307	-			78					B9EH39|Q6IF58|Q96R11	Silent	SNP	ENST00000360759.3	37	c.234G>A	CCDS31421.1																																																																																				0.448	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		13	77	0	0	0	1	0	13	77					T	7960834	C	T	7960834	2	4	88	1	0	0	0	0	0	0	0	1	10891	755	27	1		1	OR10A3	11	7960834	Silent	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		7960834	127045682	8	1651										
CPSF7	79869	broad.mit.edu	37	chr11	61183138	61183148	+	Splice_Site	DEL	CTGCACTGGCT	CTGCACTGGCT	-													0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	aaaggtaagcactgagttacCtgcactggctccagatactg					rs200619739		TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr11:61183138_61183148delCTGCACTGGCT	ENST00000394888.4	-	7	1246_1256	c.1074_1084delAGCCAGTGCAG	c.(1072-1086)ggagccagtgcaggg>gggg	p.GASAG358fs	CPSF7_ENST00000340437.4_Splice_Site_p.GASAG401fs|CPSF7_ENST00000448745.1_Splice_Site_p.GASAG349fs|CPSF7_ENST00000439958.3_Splice_Site_p.GASAG349fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	358					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						ACTGAGTTACCTGCACTGGCTCCAGATACTG	0.436																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.e7+1		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001630	splice_region_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183138_61183148delCTGCACTGGCT		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1084+1AGCCAGTGCAG>-	11.37:g.61183138_61183148delCTGCACTGGCT						CPSF7_ENST00000448745.1_Splice_Site_p.GASAG349_splice|CPSF7_ENST00000394888.4_Splice_Site_p.GASAG358_splice|CPSF7_ENST00000439958.3_Splice_Site_p.GASAG349_splice	p.GASAG401_splice	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			7	1283_1293	-			358					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Splice_Site	DEL	ENST00000394888.4	37	c.1213_splice	CCDS44619.1																																																																																				0.436	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811	Frame_Shift_Del	10	28						10	28	---	---	---	---	-	61183148	CTGCACTGGCT	-	61183138	8	5	88	1	0	1	0	1	0	0	1	0	3830	695	24	0	343	0	CPSF7	11	61183138	Splice_Site	DEL	CTGCACTGGCT	TCGA-RW-A7D0-01A-11D-A35D-08	53222304	61183138	73823378	9	1652										
FLT1	2321	broad.mit.edu	37	chr13	28919665	28919665	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	gcatgttagagtgatcagctCcagattagacttgtccgagg	12	8	1	4			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr13:28919665C>A	ENST00000282397.4	-	16	2523	c.2272G>T	c.(2272-2274)Gag>Tag	p.E758*	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	758					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGATCAGCTCCAGATTAGAC	0.403																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2272-2274)Gag>Tag		fms-related tyrosine kinase 1	Sunitinib(DB01268)						62	62	62					13																	28919665		2203	4300	6503	SO:0001587	stop_gained	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919665C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2272G>T	13.37:g.28919665C>A	ENSP00000282397:p.Glu758*					FLT1_ENST00000540678.1_5'UTR	p.E758*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2523	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	758					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	ENST00000282397.4	37	c.2272G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	44	11.088426	0.99514	.	.	ENSG00000102755	ENST00000282397	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.4283	0.94754	0.0:1.0:0.0:0.0	.	.	.	.	X	758	.	ENSP00000282397:E758X	E	-	1	0	FLT1	27817665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.972000	0.70448	2.590000	0.87494	0.555000	0.69702	GAG		0.403	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	15	1	0	1	1	1	4	15					A	28919665	C	A	28919665	4	1	88	1	0	0	0	0	0	1	0	0	5941	864	30	5	1804	5	FLT1	13	28919665	Nonsense_Mutation	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		28919665	86250213	10	1653										
NF1	4763	broad.mit.edu	37	chr17	29528481	29528481	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	tcactatgtgctggtaaattCactccatcgaatcatcacca	5	12	4	0			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr17:29528481C>G	ENST00000358273.4	+	11	1621	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*	NF1_ENST00000356175.3_Nonsense_Mutation_p.S413*|NF1_ENST00000431387.4_Nonsense_Mutation_p.S413*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	413					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTAAATTCACTCCATCGA	0.294			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1237-1239)tCa>tGa		neurofibromin 1							86	96	92					17																	29528481		2203	4294	6497	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528481C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1238C>G	17.37:g.29528481C>G	ENSP00000351015:p.Ser413*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Nonsense_Mutation_p.S413*|NF1_ENST00000356175.3_Nonsense_Mutation_p.S413*	p.S413*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1621	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	413					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1238C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648075	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	4.18	0.49190	.	0.063541	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.9841	0.71332	0.1439:0.8561:0.0:0.0	.	.	.	.	X	413;413;413;79	.	ENSP00000348498:S413X	S	+	2	0	NF1	26552607	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.194000	0.77789	1.146000	0.42352	0.491000	0.48974	TCA		0.294	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		40	46	0	0	0	1	0	40	46					G	29528481	C	G	29528481	4	3	88	1	0	0	0	0	0	1	0	0	10356	838	29	5	1280	5	NF1	17	29528481	Nonsense_Mutation	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		29528481	51666729	11	1654										
BAHCC1	57597	broad.mit.edu	37	chr17	79423466	79423467	+	Frame_Shift_Ins	INS	-	-	G													0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	agcagaaggaggctacccccINSggggggcgcatccgggagaa					rs200506858	byFrequency	TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr17:79423466_79423467insG	ENST00000307745.7	+	20	4713_4714	c.4713_4714insG	c.(4714-4716)gggfs	p.G1572fs																								AGGCTACCCCCGGGGGGCGCAT	0.683																																						ENST00000307745.7																			0											c.(4711-4716)ccggggfs																																						SO:0001589	frameshift_variant	57597							g.chr17:79423466_79423467insG																												ENST00000307745.7:c.4719dupG	17.37:g.79423472_79423472dupG	ENSP00000303486:p.Gly1572fs						p.PG1571fs							20	4713_4714	+									Frame_Shift_Ins	INS	ENST00000307745.7	37	c.4713_4714insG																																																																																					0.683	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---	G	79423467	-	G	79423466	7	5	88	1	0	1	1	0	0	0	0	0	1296	639	23	0	4606	0	BAHCC1	17	79423466	Frame_Shift_Ins	INS	-	TCGA-RW-A7D0-01A-11D-A35D-08	49894985	79423466	1771744	12	1655										
PRMT1	3276	broad.mit.edu	37	chr19	50185323	50185323	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	gggcccgcaaggtcatcgggGtgagtctccagggtggccag	18	11	2	1			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr19:50185323G>C	ENST00000391851.4	+	3	423		c.e3+1		PRMT1_ENST00000454376.2_Splice_Site|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Splice_Site	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1						cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGTCATCGGGGTGAGTCTCCA	0.682																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.e4+1		protein arginine methyltransferase 1							36	39	38					19																	50185323		2202	4299	6501	SO:0001630	splice_region_variant	3276					cytoplasm	protein methyltransferase activity	g.chr19:50185323G>C	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.294+1G>C	19.37:g.50185323G>C						PRMT1_ENST00000454376.2_Splice_Site|PRMT1_ENST00000391851.4_Splice_Site				Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	716	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)						B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Splice_Site	SNP	ENST00000391851.4	37		CCDS42592.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.473067	0.43942	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000524771;ENST00000529836;ENST00000526224;ENST00000527412	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2955	0.73902	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT1	54877135	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	9.215000	0.95146	2.560000	0.86352	0.549000	0.68633	.		0.682	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536	Intron	3	42	0	0	0	1	0	3	42					C	50185323	G	C	50185323	5	2	88	1	0	0	0	0	0	0	1	0	12535	1275	44	5	363	5	PRMT1	19	50185323	Splice_Site	SNP	G	TCGA-RW-A7D0-01A-11D-A35D-08		50185323	8943660	13	1656										
SPAG4	6676	broad.mit.edu	37	chr20	34205716	34205716	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	cccagggaggtctgttccatCcgcttcctgttcacggctgt	11	14	2	0			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr20:34205716C>T	ENST00000374273.3	+	4	604	c.492C>T	c.(490-492)atC>atT	p.I164I	SPAG4_ENST00000462896.1_Intron	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	164					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.I164I(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCTGTTCCATCCGCTTCCTGT	0.637																																						ENST00000374273.3																			1	Substitution - coding silent(1)	p.I164I(1)	lung(1)	NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21						c.(490-492)atC>atT		sperm associated antigen 4							73	71	72					20																	34205716		2203	4300	6503	SO:0001819	synonymous_variant	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34205716C>T	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.492C>T	20.37:g.34205716C>T						SPAG4_ENST00000462896.1_Intron	p.I164I	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		4	604	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		164					O43648	Silent	SNP	ENST00000374273.3	37	c.492C>T	CCDS13259.1																																																																																				0.637	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		22	46	0	0	0	1	0	22	46					T	34205716	C	T	34205716	2	4	88	1	0	0	0	0	0	0	0	1	14980	845	30	3		3	SPAG4	20	34205716	Silent	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		34205716	28819804	14	1657										
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032334	46032334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	ccagcagtctagctgccagcCggcttgctgcacctcctccc	9	19	1	0	rs141295608	byFrequency	TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr21:46032334C>T	ENST00000334662.2	+	1	339	c.317C>T	c.(316-318)cCg>cTg	p.P106L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	106	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCTGCCAGCCGGCTTGCTGC	0.642													-|||	2	0.000399361	0.0015	0	5008	,	,		21158	0		0	False		,,,				2504	0					ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(316-318)cCg>cTg		keratin associated protein 10-8		C	,LEU/PRO	6,4400	14.3+/-33.2	0,6,2197	104	93	97		,317	0.5	0.9	21	dbSNP_134	97	0,8600		0,0,4300	no	intron,missense	TSPEAR,KRTAP10-8	NM_144991.2,NM_198695.2	,98	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,benign	,106/260	46032334	6,13000	2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032334C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.317C>T	21.37:g.46032334C>T	ENSP00000335565:p.Pro106Leu					TSPEAR_ENST00000323084.4_Intron	p.P106L	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	339	+			106			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.317C>T	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	10.94	1.492577	0.26774	0.001362	0.0	ENSG00000187766	ENST00000334662	T	0.01228	5.14	3.78	0.534	0.17127	.	.	.	.	.	T	0.02610	0.0079	M	0.77103	2.36	0.24354	N	0.994902	B	0.16802	0.019	B	0.10450	0.005	T	0.27502	-1.0072	9	0.59425	D	0.04	.	7.9219	0.29850	0.1596:0.7348:0.0:0.1056	.	106	P60410	KR108_HUMAN	L	106	ENSP00000335565:P106L	ENSP00000335565:P106L	P	+	2	0	KRTAP10-8	44856762	0.024000	0.19004	0.914000	0.36105	0.870000	0.49936	0.350000	0.20079	0.204000	0.20548	-1.305000	0.01319	CCG		0.642	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		30	61	0	0	0	1	0	30	61					T	46032334	C	T	46032334	3	4	88	1	0	0	0	0	1	0	0	0	8515	652	23	2	319	2	KRTAP10-8	21	46032334	Missense_Mutation	SNP	C	TCGA-RW-A7D0-01A-11D-A35D-08		46032334	2097561	15	1658										
GGT1	2678	broad.mit.edu	37	chr22	25016897	25016897	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.794871794871795	3.57692307692308	0	1	1	0	cagtgaggtgttctgccgggAtagaaaggtgcttcgggagg	18	6	1	2			TCGA-RW-A7D0-01A-11D-A35D-08	TCGA-RW-A7D0-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99293d59-23c9-46cf-bdaf-00c2b51a02bf	023921e3-188f-4540-9b31-b6ebf8d992fd	g.chr22:25016897A>T	ENST00000400382.1	+	9	1348	c.593A>T	c.(592-594)gAt>gTt	p.D198V	GGT1_ENST00000248923.4_Missense_Mutation_p.D198V|GGT1_ENST00000400383.1_Missense_Mutation_p.D198V|GGT1_ENST00000406383.2_Missense_Mutation_p.D198V|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400380.1_Missense_Mutation_p.D198V			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	198					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTCTGCCGGGATAGAAAGGTG	0.642																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(592-594)gAt>gTt		gamma-glutamyltransferase 1	Glutathione(DB00143)						19	22	21					22																	25016897		1957	4130	6087	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016897A>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.593A>T	22.37:g.25016897A>T	ENSP00000383232:p.Asp198Val					GGT1_ENST00000400383.1_Missense_Mutation_p.D198V|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.D198V|GGT1_ENST00000406383.2_Missense_Mutation_p.D198V|GGT1_ENST00000400380.1_Missense_Mutation_p.D198V	p.D198V			P19440	GGT1_HUMAN			9	1348	+			198					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.593A>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601472	0.46423	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	3.94	3.94	0.45596	.	1.078920	0.07236	U	0.863345	T	0.18676	0.0448	M	0.79123	2.44	0.21878	N	0.999495	P	0.50528	0.936	B	0.42738	0.396	T	0.23762	-1.0179	10	0.62326	D	0.03	-28.8305	8.7795	0.34783	0.9042:0.0:0.0958:0.0	.	198	P19440	GGT1_HUMAN	V	198	ENSP00000248923:D198V;ENSP00000393537:D198V;ENSP00000383232:D198V;ENSP00000383233:D198V;ENSP00000383231:D198V;ENSP00000385975:D198V	ENSP00000248923:D198V	D	+	2	0	GGT1	23346897	0.146000	0.22672	0.001000	0.08648	0.488000	0.33401	3.920000	0.56446	1.564000	0.49628	0.454000	0.30748	GAT		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		3	20	0	0	0	1	0	3	20					T	25016897	A	T	25016897	3	4	88	1	0	0	0	0	1	0	0	0	6361	333	12	5	611	5	GGT1	22	25016897	Missense_Mutation	SNP	A	TCGA-RW-A7D0-01A-11D-A35D-08		25016897	26287669	16	1659										
ZNF687	57592	broad.mit.edu	37	chr1	151260658	151260658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tctctggacctctggccttgCctgccttgggcaagggtgag	14	12	2	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr1:151260658C>T	ENST00000368879.2	+	2	1989	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGCCTTGCCTGCCTTGGG	0.642																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1891-1893)Cct>Tct		zinc finger protein 687							58	53	55					1																	151260658		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260658C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1891C>T	1.37:g.151260658C>T	ENSP00000357874:p.Pro631Ser						p.P631S	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1989	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		631					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1891C>T		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569101	0.00895	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00882	5.58;5.58;5.93	5.26	2.24	0.28232	.	0.228496	0.22421	N	0.060288	T	0.00144	0.0004	N	0.01576	-0.805	0.19300	N	0.999978	B;B;B	0.18310	0.01;0.0;0.027	B;B;B	0.17722	0.007;0.001;0.019	T	0.19877	-1.0292	10	0.09590	T	0.72	.	9.7155	0.40272	0.0:0.5829:0.3342:0.0829	.	631;631;631	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	S	631	ENSP00000336620:P631S;ENSP00000319829:P631S;ENSP00000357874:P631S	ENSP00000319829:P631S	P	+	1	0	ZNF687	149527282	0.978000	0.34361	0.924000	0.36721	0.006000	0.05464	1.258000	0.32944	0.785000	0.33685	0.655000	0.94253	CCT		0.642	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		23	53	0	0	0	1	0	23	53					T	151260658	C	T	151260658	3	4	89	1	0	0	0	0	1	0	0	0	18089	739	26	3	1893	3	ZNF687	1	151260658	Missense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		151260658	97989963	1	1660										
TRIM17	51127	broad.mit.edu	37	chr1	228596255	228596255	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	cagggcccacaacgcgtcccCggtgatgttcatgcccacct	10	17	1	1	rs372882465		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr1:228596255C>A	ENST00000366697.2	-	6	2037	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W|TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AACGCGTCCCCGGTGATGTTC	0.627																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(1081-1083)Ggg>Tgg		tripartite motif containing 17							58	62	60					1																	228596255		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596255C>A	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1081G>T	1.37:g.228596255C>A	ENSP00000355658:p.Gly361Trp					TRIM17_ENST00000295033.3_Missense_Mutation_p.G361W|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Missense_Mutation_p.G361W	p.G361W			Q9Y577	TRI17_HUMAN			6	2037	-		Prostate(94;0.0724)	361			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1081G>T	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843789	0.51164	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.64618	-0.11;-0.11;-0.11	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.47455	D	0.000224	T	0.81711	0.4880	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83654	0.0157	10	0.45353	T	0.12	.	15.9788	0.80091	0.0:1.0:0.0:0.0	.	361	Q9Y577	TRI17_HUMAN	W	361	ENSP00000355658:G361W;ENSP00000355659:G361W;ENSP00000295033:G361W	ENSP00000295033:G361W	G	-	1	0	TRIM17	226662878	0.990000	0.36364	0.267000	0.24556	0.270000	0.26580	5.703000	0.68340	2.531000	0.85337	0.655000	0.94253	GGG		0.627	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		17	32	1	0	9.16793e-09	1	9.69181e-09	17	32					A	228596255	C	A	228596255	3	1	89	1	0	0	0	0	1	0	0	0	16490	652	23	5	356	5	TRIM17	1	228596255	Missense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08	77335597	228596255	20654366	2	1661										
BIRC6	57448	broad.mit.edu	37	chr2	32693033	32693033	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	aaaatcccattaggattttaCtatggtcatacctacatctt	4	9	2	0			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:32693033C>G	ENST00000421745.2	+	28	5768	c.5634C>G	c.(5632-5634)taC>taG	p.Y1878*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1878					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGGATTTTACTATGGTCATA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(5632-5634)taC>taG		baculoviral IAP repeat containing 6							64	66	65					2																	32693033		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32693033C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5634C>G	2.37:g.32693033C>G	ENSP00000393596:p.Tyr1878*						p.Y1878*	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			28	5768	+	Acute lymphoblastic leukemia(172;0.155)		1878					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.5634C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	46	12.265692	0.99652	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.9	4.84	0.62591	.	0.138414	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.6899	0.62539	0.0:0.8862:0.0:0.1138	.	.	.	.	X	1878	.	ENSP00000393596:Y1878X	Y	+	3	2	BIRC6	32546537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.931000	0.28871	2.822000	0.97130	0.650000	0.86243	TAC		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	15	0	0	0	1	0	14	15					G	32693033	C	G	32693033	4	3	89	1	0	0	0	0	0	1	0	0	1438	576	20	5	5744	5	BIRC6	2	32693033	Nonsense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		32693033	210506340	3	1662										
IWS1	55677	broad.mit.edu	37	chr2	128262518	128262518	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tggcttctgtttgtgtctggAcgcatcctcagtttctgagt	11	9	4	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:128262518A>G	ENST00000295321.4	-	3	1220	c.961T>C	c.(961-963)Tcc>Ccc	p.S321P	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S328P|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	321	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTGTGTCTGGACGCATCCTCA	0.517																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(961-963)Tcc>Ccc		IWS1 homolog (S. cerevisiae)							170	162	164					2																	128262518		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262518A>G	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.961T>C	2.37:g.128262518A>G	ENSP00000295321:p.Ser321Pro					IWS1_ENST00000455721.2_Missense_Mutation_p.S328P|AC010976.2_ENST00000599001.1_RNA	p.S321P	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1220	-	Colorectal(110;0.1)		321			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.961T>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	A	6.624	0.483560	0.12581	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.33216	1.42;1.44	5.93	0.562	0.17290	.	0.468960	0.22044	N	0.065417	T	0.16896	0.0406	L	0.34521	1.04	0.33180	D	0.549406	B	0.06786	0.001	B	0.01281	0.0	T	0.11842	-1.0571	10	0.26408	T	0.33	-2.4549	3.1142	0.06369	0.4462:0.3279:0.1205:0.1054	.	321	Q96ST2	IWS1_HUMAN	P	321;274;328	ENSP00000295321:S321P;ENSP00000399245:S328P	ENSP00000295321:S321P	S	-	1	0	IWS1	127978988	0.159000	0.22864	0.101000	0.21167	0.227000	0.25037	0.522000	0.22909	-0.117000	0.11872	0.460000	0.39030	TCC		0.517	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		66	104	0	0	0	1	0	66	104					G	128262518	A	G	128262518	3	3	89	1	0	0	0	0	1	0	0	0	7931	275	10	4	1546	4	IWS1	2	128262518	Missense_Mutation	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	95569485	128262518	114936855	4	1663										
SPHKAP	80309	broad.mit.edu	37	chr2	228882283	228882283	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ttaagcccaggctgttgacaTaggccctggcctcggagtct	12	12	1	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr2:228882283T>A	ENST00000392056.3	-	7	3333	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1096						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGTTGACATAGGCCCTGGC	0.602																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3286-3288)tAt>tTt		SPHK1 interactor, AKAP domain containing							32	33	33					2																	228882283		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882283T>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3287A>T	2.37:g.228882283T>A	ENSP00000375909:p.Tyr1096Phe					SPHKAP_ENST00000344657.5_Missense_Mutation_p.Y1096F	p.Y1096F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3333	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1096					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3287A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	0.752	-0.772613	0.02951	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11063	2.81;2.81	5.55	-3.72	0.04411	.	0.752720	0.13333	N	0.395743	T	0.02342	0.0072	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.12013	0.001;0.003;0.005	B;B;B	0.13407	0.003;0.001;0.009	T	0.42258	-0.9462	10	0.09843	T	0.71	.	0.7685	0.01020	0.4224:0.1477:0.2188:0.211	.	127;1096;1096	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	F	1096	ENSP00000375909:Y1096F;ENSP00000339886:Y1096F	ENSP00000339886:Y1096F	Y	-	2	0	SPHKAP	228590527	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.091000	0.11146	-0.340000	0.08388	0.533000	0.62120	TAT		0.602	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		5	40	0	0	0	1	0	5	40					A	228882283	T	A	228882283	3	1	89	1	0	0	0	0	1	0	0	0	15047	1406	49	5	1839	5	SPHKAP	2	228882283	Missense_Mutation	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08	100619765	228882283	14317090	5	1664										
EPHA3	2042	broad.mit.edu	37	chr3	89478273	89478273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	taggtaagccagttatgattGtcacagaatacatggagaat	10	5	1	3			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr3:89478273G>A	ENST00000336596.2	+	12	2317	c.2092G>A	c.(2092-2094)Gtc>Atc	p.V698I	EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTTATGATTGTCACAGAATA	0.294										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2092-2094)Gtc>Atc		EPH receptor A3							103	108	107					3																	89478273		2203	4299	6502	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478273G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2092G>A	3.37:g.89478273G>A	ENSP00000337451:p.Val698Ile	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.V698I	p.V698I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	12	2317	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	698			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2092G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	8.100	0.776463	0.16120	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.84370	-1.84;-1.84	5.68	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	N	0.17345	0.48	0.80722	D	1	D	0.63046	0.992	D	0.72982	0.979	D	0.84664	0.0708	9	.	.	.	.	15.037	0.71754	0.0685:0.0:0.9315:0.0	.	698	P29320	EPHA3_HUMAN	I	698	ENSP00000337451:V698I;ENSP00000419190:V698I	.	V	+	1	0	EPHA3	89560963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.841000	0.62824	1.547000	0.49401	0.591000	0.81541	GTC		0.294	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		36	57	0	0	0	1	0	36	57					A	89478273	G	A	89478273	3	1	89	1	0	0	0	0	1	0	0	0	5168	1377	48	3	2164	3	EPHA3	3	89478273	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		89478273	108544157	6	1665										
LRRC33	375387	broad.mit.edu	37	chr3	196387237	196387237	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tacaacgtcctggagtggttCctcgcgaccgggggagaggc	16	11	0	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr3:196387237C>T	ENST00000328557.4	+	3	926	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	241					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGAGTGGTTCCTCGCGACCG	0.632																																						ENST00000328557.4																			0											c.(721-723)ttC>ttT		negative regulator of reactive oxygen species							64	63	63					3																	196387237		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196387237C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.723C>T	3.37:g.196387237C>T							p.F241F	NM_198565.1	NP_940967.1					3	926	+									Silent	SNP	ENST00000328557.4	37	c.723C>T	CCDS3319.1																																																																																				0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		19	27	0	0	0	1	0	19	27					T	196387237	C	T	196387237	2	4	89	1	0	0	0	0	0	0	0	1	8988	854	30	3		3	LRRC33	3	196387237	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08	106908964	196387237	1635193	7	1666										
SHISA3	152573	broad.mit.edu	37	chr4	42403414	42403414	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	cagtatttcgcttaccccctCcagcaggagcccccactgcc	7	19	0	0			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:42403414C>G	ENST00000319234.4	+	2	881	c.663C>G	c.(661-663)ctC>ctG	p.L221L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	221					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CTTACCCCCTCCAGCAGGAGC	0.597																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(661-663)ctC>ctG		shisa family member 3							65	68	67					4																	42403414		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403414C>G	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"Shisa homologs"	25159	protein-coding gene	gene with protein product			"shisa homolog 3 (Xenopus laevis)"				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.663C>G	4.37:g.42403414C>G							p.L221L	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	881	+			221					A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.663C>G	CCDS33979.1																																																																																				0.597	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		12	41	0	0	0	1	0	12	41					G	42403414	C	G	42403414	2	3	89	1	0	0	0	0	0	0	0	1	14281	842	30	5		5	SHISA3	4	42403414	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		42403414	148750862	8	1667										
MAML3	55534	broad.mit.edu	37	chr4	140641376	140641376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	cgtcccagggttctgggaggGtcctattcccatcatgcctg	12	13	2	0			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:140641376G>A	ENST00000509479.2	-	5	3374	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TTCTGGGAGGGTCCTATTCCC	0.592																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2518-2520)Ccc>Tcc		mastermind-like 3 (Drosophila)							166	170	169					4																	140641376		2121	4247	6368	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641376G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2518C>T	4.37:g.140641376G>A	ENSP00000421180:p.Pro840Ser					MGST2_ENST00000515137.1_Intron	p.P840S	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			5	3374	-	all_hematologic(180;0.162)		836			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2518C>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227073	0.39399	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.25414	1.8	5.81	4.97	0.65823	.	0.225469	0.38720	N	0.001597	T	0.31857	0.0810	M	0.75264	2.295	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.18561	0.022;0.022	T	0.07366	-1.0776	10	0.30854	T	0.27	.	16.0644	0.80861	0.0:0.2529:0.7471:0.0	.	840;836	E7EVW8;Q96JK9	.;MAML3_HUMAN	S	840;147	ENSP00000421180:P840S	ENSP00000421180:P840S	P	-	1	0	MAML3	140860826	0.998000	0.40836	0.831000	0.32960	0.287000	0.27160	2.624000	0.46444	1.442000	0.47568	-0.165000	0.13383	CCC		0.592	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			71	107	0	0	0	1	0	71	107					A	140641376	G	A	140641376	3	1	89	1	0	0	0	0	1	0	0	0	9207	1261	44	3	902	3	MAML3	4	140641376	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	98237962	140641376	50512900	9	1668										
CCDC110	256309	broad.mit.edu	37	chr4	186379809	186379809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	gattcttgtaatgttgtttcAaggttgagtttttcatcttt	8	4	4	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:186379809A>G	ENST00000307588.3	-	6	2007	c.1932T>C	c.(1930-1932)ctT>ctC	p.L644L	CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Silent_p.L644L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	644						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTTGTTTCAAGGTTGAGTT	0.338																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1930-1932)ctT>ctC		coiled-coil domain containing 110							89	94	92					4																	186379809		2202	4296	6498	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186379809A>G	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1932T>C	4.37:g.186379809A>G						CCDC110_ENST00000393540.3_Silent_p.L607L|CCDC110_ENST00000510617.1_Silent_p.L644L	p.L644L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2007	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	644					Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.1932T>C	CCDS3843.1																																																																																				0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		7	68	0	0	0	1	0	7	68					G	186379809	A	G	186379809	2	3	89	1	0	0	0	0	0	0	0	1	2747	117	5	4		4	CCDC110	4	186379809	Silent	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	45738433	186379809	4774467	10	1669										
FAT1	2195	broad.mit.edu	37	chr4	187521348	187521348	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ttttcagagtccctggggctGtgcccgatgcagtatgaact	12	10	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr4:187521348G>T	ENST00000441802.2	-	22	12016	c.11807C>A	c.(11806-11808)aCa>aAa	p.T3936K	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3936	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTGGGGCTGTGCCCGATGC	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11806-11808)aCa>aAa		FAT atypical cadherin 1							61	62	62					4																	187521348		1972	4156	6128	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521348G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11807C>A	4.37:g.187521348G>T	ENSP00000406229:p.Thr3936Lys	HNSCC(5;0.00058)					p.T3936K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12016	-			3936			Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11807C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917136	0.17907	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.77358	-1.09	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	N	0.25890	0.77	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.68887	-0.5290	10	0.05959	T	0.93	.	13.0748	0.59081	0.0772:0.0:0.9228:0.0	.	3936	Q14517	FAT1_HUMAN	K	3936;3938	ENSP00000406229:T3936K	ENSP00000260147:T3938K	T	-	2	0	FAT1	187758342	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.161000	0.64935	2.726000	0.93360	0.655000	0.94253	ACA		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	21	1	0	0.00185496	1	0.00190648	14	21					T	187521348	G	T	187521348	3	4	89	1	0	0	0	0	1	0	0	0	5689	1377	48	5	1983	5	FAT1	4	187521348	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	1141539	187521348	3632928	11	1670										
HSPA1L	3305	broad.mit.edu	37	chr6	31777995	31777995	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tctttctctgccagttgattGacctccagccacgaaaggag	9	12	2	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr6:31777995G>A	ENST00000375654.4	-	2	1944	c.1755C>T	c.(1753-1755)gtC>gtT	p.V585V	HSPA1L_ENST00000417199.3_Silent_p.V585V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	585					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCAGTTGATTGACCTCCAGCC	0.408																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1753-1755)gtC>gtT		heat shock 70kDa protein 1-like							116	110	112					6																	31777995		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31777995G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1755C>T	6.37:g.31777995G>A						HSPA1L_ENST00000417199.3_Silent_p.V585V	p.V585V	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1944	-			585					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1755C>T	CCDS34413.1																																																																																				0.408	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	131	0	0	0	1	0	4	131					A	31777995	G	A	31777995	2	1	89	1	0	0	0	0	0	0	0	1	7410	1277	45	3		3	HSPA1L	6	31777995	Silent	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		31777995	139337072	12	1671										
COL12A1	1303	broad.mit.edu	37	chr6	75893251	75893251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tatttggtgaaatttcaaaaCtttttacaagaacttccaaa	4	6	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr6:75893251C>A	ENST00000322507.8	-	10	1715	c.1406G>T	c.(1405-1407)aGt>aTt	p.S469I	COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I|COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	469	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S469I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTTCAAAACTTTTTACAAG	0.358																																						ENST00000322507.8																			1	Substitution - Missense(1)	p.S469I(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1405-1407)aGt>aTt		collagen, type XII, alpha 1							64	62	63					6																	75893251		1821	4074	5895	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893251C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1406G>T	6.37:g.75893251C>A	ENSP00000325146:p.Ser469Ile					COL12A1_ENST00000483888.2_Missense_Mutation_p.S469I|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S469I	p.S469I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	1715	-			469			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1406G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005357	0.74932	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.79033	-1.23;-1.23;-1.23	5.49	5.49	0.81192	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	M	0.64567	1.98	0.41634	D	0.989038	D;D	0.56521	0.976;0.976	P;P	0.57057	0.812;0.812	D	0.83619	0.0138	10	0.72032	D	0.01	.	19.7404	0.96228	0.0:1.0:0.0:0.0	.	469;469	D6RGG3;Q99715	.;COCA1_HUMAN	I	469	ENSP00000325146:S469I;ENSP00000412864:S469I;ENSP00000421216:S469I	ENSP00000325146:S469I	S	-	2	0	COL12A1	75949971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.107000	0.71517	2.734000	0.93682	0.655000	0.94253	AGT		0.358	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		36	52	1	0	4.34311e-12	1	4.72632e-12	36	52					A	75893251	C	A	75893251	3	1	89	1	0	0	0	0	1	0	0	0	3669	565	20	5	8013	5	COL12A1	6	75893251	Missense_Mutation	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08	44115256	75893251	95221816	13	1672										
TMEM8B	51754	broad.mit.edu	37	chr9	35853200	35853200	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	cagcttgaccgacatggactCtggaacctgcttggacccag	11	13	1	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:35853200C>G	ENST00000377991.4	+	13	2044	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	TMEM8B_ENST00000377988.2_Silent_p.L343L	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	343					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GACATGGACTCTGGAACCTGC	0.607																																						ENST00000377988.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(1027-1029)ctC>ctG		transmembrane protein 8B							134	134	134					9																	35853200		1994	4171	6165	SO:0001819	synonymous_variant	51754				cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35853200C>G	BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"		"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.1029C>G	9.37:g.35853200C>G						TMEM8B_ENST00000377991.4_Silent_p.L343L	p.L343L	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			12	2317	+			343					B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	c.1029C>G	CCDS43800.1																																																																																				0.607	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446		59	79	0	0	0	1	0	59	79					G	35853200	C	G	35853200	2	3	89	1	0	0	0	0	0	0	0	1	16212	900	32	5		5	TMEM8B	9	35853200	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		35853200	105360231	14	1673										
CNTNAP3	79937	broad.mit.edu	37	chr9	39118252	39118252	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	acccaccagctcagtggggtTccatctgaaagacaagtata	9	11	2	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:39118252T>C	ENST00000297668.6	-	14	2158	c.2085A>G	c.(2083-2085)ggA>ggG	p.G695G	CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377659.1_Silent_p.G694G|CNTNAP3_ENST00000358144.2_Silent_p.G607G|CNTNAP3_ENST00000377656.2_Silent_p.G694G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	695	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCAGTGGGGTTCCATCTGAAA	0.473																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2083-2085)ggA>ggG		contactin associated protein-like 3							84	68	73					9																	39118252		2203	4298	6501	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39118252T>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2085A>G	9.37:g.39118252T>C						CNTNAP3_ENST00000323947.7_Silent_p.G601G|CNTNAP3_ENST00000377656.2_Silent_p.G694G|CNTNAP3_ENST00000377659.1_Silent_p.G694G|CNTNAP3_ENST00000358144.2_Silent_p.G607G	p.G695G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	14	2158	-			695			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.2085A>G	CCDS6616.1																																																																																				0.473	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		38	63	0	0	0	1	0	38	63					C	39118252	T	C	39118252	2	2	89	1	0	0	0	0	0	0	0	1	3648	1770	62	4		4	CNTNAP3	9	39118252	Silent	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08	3265052	39118252	102095179	15	1674										
URM1	81605	broad.mit.edu	37	chr9	131140374	131140374	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tcgagtcactttgcctggacAggaggaaccctgtgagtatt	12	9	1	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:131140374A>T	ENST00000372853.4	+	2	157	c.95A>T	c.(94-96)cAg>cTg	p.Q32L	URM1_ENST00000452446.1_Missense_Mutation_p.Q32L|URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_Missense_Mutation_p.Q32L	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TTGCCTGGACAGGAGGAACCC	0.537																																						ENST00000372850.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						c.(94-96)cAg>cTg		ubiquitin related modifier 1							136	122	127					9																	131140374		2203	4300	6503	SO:0001583	missense	81605				tRNA thio-modification|tRNA wobble uridine modification		protein binding	g.chr9:131140374A>T	AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"chromosome 9 open reading frame 74", "ubiquitin related modifier 1 homolog (S. cerevisiae)"	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372853.4:c.95A>T	9.37:g.131140374A>T	ENSP00000361944:p.Gln32Leu					URM1_ENST00000372853.4_Missense_Mutation_p.Q32L|URM1_ENST00000372847.1_Missense_Mutation_p.R46W|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000452446.1_Missense_Mutation_p.Q32L	p.Q32L			Q9BTM9	URM1_HUMAN			2	115	+			32						Missense_Mutation	SNP	ENST00000372853.4	37	c.95A>T	CCDS6900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.52|12.52	1.963138|1.963138	0.34659|0.34659	.|.	.|.	ENSG00000167118|ENSG00000167118	ENST00000372853;ENST00000452446;ENST00000372850|ENST00000372847	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62962|0.62962	0.2471|0.2471	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.27559|.	0.181;0.001|.	B;B|.	0.19391|.	0.025;0.011|.	T|T	0.66598|0.66598	-0.5883|-0.5883	9|6	0.33940|0.87932	T|D	0.23|0	-9.537|-9.537	14.4826|14.4826	0.67592|0.67592	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	32;32|.	Q9BTM9-2;Q9BTM9|.	.;URM1_HUMAN|.	L|W	32|46	.|.	ENSP00000361941:Q32L|ENSP00000361938:R46W	Q|R	+|+	2|1	0|2	URM1|URM1	130180195|130180195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.550000|0.550000	0.35303|0.35303	6.778000|6.778000	0.75043|0.75043	2.013000|2.013000	0.59113|0.59113	0.379000|0.379000	0.24179|0.24179	CAG|AGG		0.537	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054422.1	NM_030914		18	37	0	0	0	1	0	18	37					T	131140374	A	T	131140374	3	4	89	1	0	0	0	0	1	0	0	0	17024	188	7	5	101	5	URM1	9	131140374	Missense_Mutation	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	92022122	131140374	10073057	16	1675										
SOHLH1	402381	broad.mit.edu	37	chr9	138586951	138586951	+	Frame_Shift_Del	DEL	C	C	-													0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tggctcccccagaggtgcagCccccatggccaggggcccag							TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:138586951delC	ENST00000298466.5	-	6	880	c.820delG	c.(820-822)gctfs	p.A275fs	SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	275					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGAGGTGCAGCCCCCATGGCC	0.711																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(820-822)ctfs		spermatogenesis and oogenesis specific basic helix-loop-helix 1							10	10	10					9																	138586951		2158	4234	6392	SO:0001589	frameshift_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586951delC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.820delG	9.37:g.138586951delC	ENSP00000298466:p.Ala275fs					SOHLH1_ENST00000425225.1_Frame_Shift_Del_p.A275fs	p.A275fs	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	6	880	-		Myeloproliferative disorder(178;0.0511)	275					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Frame_Shift_Del	DEL	ENST00000298466.5	37	c.820delG	CCDS35174.1																																																																																				0.711	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		2	4						2	4	---	---	---	---	-	138586951	C	-	138586951	7	5	89	1	0	1	0	1	0	0	0	0	14923	739	26	0	396	0	SOHLH1	9	138586951	Frame_Shift_Del	DEL	C	TCGA-RW-A8AZ-01A-11D-A35D-08	7446577	138586951	2626480	17	1676										
ABCA2	20	broad.mit.edu	37	chr9	139911685	139911685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	aggccgtgatcttatcatgcGccacctcctctcggatcgcc	9	16	3	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr9:139911685G>A	ENST00000371605.3	-	17	2660	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	ABCA2_ENST00000341511.6_Missense_Mutation_p.A839V|ABCA2_ENST00000265662.5_Missense_Mutation_p.A839V|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	838					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTATCATGCGCCACCTCCTC	0.652																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2515-2517)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 2							55	62	59					9																	139911685		2183	4267	6450	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139911685G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2513C>T	9.37:g.139911685G>A	ENSP00000360666:p.Ala838Val					ABCA2_ENST00000341511.6_Missense_Mutation_p.A839V|ABCA2_ENST00000371605.3_Missense_Mutation_p.A838V	p.A839V			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	18	2663	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	838					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2516C>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.925831	0.92319	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.90004	-2.6;-2.6;-2.6	4.61	4.61	0.57282	.	0.195469	0.43579	N	0.000546	D	0.91663	0.7365	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.94	D	0.91575	0.5274	10	0.42905	T	0.14	.	17.4162	0.87500	0.0:0.0:1.0:0.0	.	838;869	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	V	839;838;869;839	ENSP00000265662:A839V;ENSP00000360666:A838V;ENSP00000344155:A839V	ENSP00000265662:A839V	A	-	2	0	ABCA2	139031506	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.658000	0.83755	2.116000	0.64780	0.313000	0.20887	GCG		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		28	26	0	0	0	1	0	28	26					A	139911685	G	A	139911685	3	1	89	1	0	0	0	0	1	0	0	0	32	1087	38	1	4922	1	ABCA2	9	139911685	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	1324734	139911685	1301746	18	1677										
YME1L1	10730	broad.mit.edu	37	chr10	27406652	27406652	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	atttccacacttcttctttcAggccctaagataaatttaat	3	10	3	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr10:27406652A>C	ENST00000326799.3	-	16	1891	c.1743T>G	c.(1741-1743)ccT>ccG	p.P581P	YME1L1_ENST00000376016.3_Silent_p.P524P|YME1L1_ENST00000375972.3_Silent_p.P491P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	581					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCTTCTTTCAGGCCCTAAGA	0.323																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1741-1743)ccT>ccG		YME1-like 1 ATPase							175	153	161					10																	27406652		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27406652A>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1743T>G	10.37:g.27406652A>C						YME1L1_ENST00000376016.3_Silent_p.P524P|YME1L1_ENST00000375972.3_Silent_p.P491P	p.P581P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			16	1891	-			581					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1743T>G	CCDS7152.1																																																																																				0.323	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		22	39	0	0	0	1	0	22	39					C	27406652	A	C	27406652	2	2	89	1	0	0	0	0	0	0	0	1	17484	175	7	5		5	YME1L1	10	27406652	Silent	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08		27406652	108128095	19	1678										
FOXI2	399823	broad.mit.edu	37	chr10	129537028	129537028	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tccggtttcgcttctgctatGagcgctctggctggcggcct	13	13	2	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr10:129537028G>A	ENST00000388920.4	+	2	795	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	252					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CTTCTGCTATGAGCGCTCTGG	0.711																																					Esophageal Squamous(54;1038 1280 2528 31583)	ENST00000388920.4																			0				large_intestine(1)|lung(3)	4						c.(754-756)atG>atA		forkhead box I2							9	11	10					10																	129537028		2185	4279	6464	SO:0001583	missense	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr10:129537028G>A	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"Forkhead boxes"	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.756G>A	10.37:g.129537028G>A	ENSP00000373572:p.Met252Ile						p.M252I	NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN			2	795	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	252						Missense_Mutation	SNP	ENST00000388920.4	37	c.756G>A	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380882	0.42207	.	.	ENSG00000186766	ENST00000388920	D	0.93953	-3.32	4.15	4.15	0.48705	.	0.160883	0.52532	D	0.000065	D	0.85923	0.5810	L	0.32530	0.975	0.58432	D	0.999992	P	0.39282	0.666	B	0.26517	0.07	D	0.85115	0.0965	10	0.21540	T	0.41	.	13.9837	0.64321	0.0:0.0:1.0:0.0	.	252	Q6ZQN5	FOXI2_HUMAN	I	252	ENSP00000373572:M252I	ENSP00000373572:M252I	M	+	3	0	FOXI2	129427018	1.000000	0.71417	0.946000	0.38457	0.007000	0.05969	2.543000	0.45752	2.138000	0.66242	0.561000	0.74099	ATG		0.711	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426		6	7	0	0	0	1	0	6	7					A	129537028	G	A	129537028	3	1	89	1	0	0	0	0	1	0	0	0	6010	1290	45	3	762	3	FOXI2	10	129537028	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	102130376	129537028	5997719	20	1679										
WT1	7490	broad.mit.edu	37	chr11	32450088	32450088	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	atcctcatgcttgaatgagtGgttggggaactgcgccgcat	13	9	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr11:32450088G>T	ENST00000379079.2	-	2	361	c.88C>A	c.(88-90)Cac>Aac	p.H30N	WT1_ENST00000332351.3_Missense_Mutation_p.H242N|WT1_ENST00000530998.1_Missense_Mutation_p.H30N|WT1_ENST00000448076.3_Missense_Mutation_p.H242N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	174	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TTGAATGAGTGGTTGGGGAAC	0.632			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	"D, Mis, N, F, S"	Wilms tumour 1 gene			O	EWSR1	Wilms	"Wilms, desmoplastic small round cell tumor"	EWSR1/WT1(234)	1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533						c.(724-726)Cac>Aac		Wilms tumor 1							96	72	80					11																	32450088		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32450088G>T		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.88C>A	11.37:g.32450088G>T	ENSP00000368370:p.His30Asn					WT1_ENST00000448076.3_Missense_Mutation_p.H242N|WT1_ENST00000379079.2_Missense_Mutation_p.H30N|WT1_ENST00000530998.1_Missense_Mutation_p.H30N	p.H242N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		2	1008	-	Breast(20;0.247)		174					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.724C>A	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009035	0.75046	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.45	4.47	0.54385	Wilm&apos (1);s tumour protein, N-terminal (1);	0.154686	0.41194	U	0.000932	T	0.79155	0.4398	L	0.38175	1.15	0.39790	D	0.972421	P;B;P;B;B	0.35033	0.481;0.25;0.481;0.237;0.123	B;B;B;B;B	0.37198	0.164;0.243;0.217;0.122;0.117	T	0.80603	-0.1309	10	0.56958	D	0.05	.	11.2474	0.49004	0.071:0.1282:0.8008:0.0	.	247;174;247;30;30	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	N	30;242;30;242;242	ENSP00000368370:H30N;ENSP00000331327:H242N;ENSP00000435307:H30N;ENSP00000415516:H242N;ENSP00000413452:H242N	ENSP00000331327:H242N	H	-	1	0	WT1	32406664	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.153000	0.77428	2.744000	0.94065	0.561000	0.74099	CAC		0.632	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		6	15	1	0	0.00198382	1	0.00198382	6	15					T	32450088	G	T	32450088	3	4	89	1	0	0	0	0	1	0	0	0	17405	1348	47	5	865	5	WT1	11	32450088	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		32450088	102556428	21	1680										
BICD1	636	broad.mit.edu	37	chr12	32480574	32480574	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	gctgagctggacggggagaaGggccgggactcaggggagga	22	7	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr12:32480574G>C	ENST00000281474.5	+	5	1288	c.1185G>C	c.(1183-1185)aaG>aaC	p.K395N	BICD1_ENST00000548411.1_Missense_Mutation_p.K395N	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	395					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACGGGGAGAAGGGCCGGGACT	0.577																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1183-1185)aaG>aaC		bicaudal D homolog 1 (Drosophila)							52	48	50					12																	32480574		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480574G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1185G>C	12.37:g.32480574G>C	ENSP00000281474:p.Lys395Asn					BICD1_ENST00000281474.5_Missense_Mutation_p.K395N	p.K395N	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1366	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		395					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1185G>C	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709391	0.48517	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.48836	0.8;0.8	5.1	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.72576	2.205	0.80722	D	1	P;D	0.57257	0.902;0.979	P;P	0.60236	0.602;0.871	T	0.57734	-0.7760	10	0.23891	T	0.37	.	11.145	0.48426	0.1502:0.0:0.8498:0.0	.	395;395	F8W113;Q96G01	.;BICD1_HUMAN	N	395	ENSP00000446793:K395N;ENSP00000281474:K395N	ENSP00000281474:K395N	K	+	3	2	BICD1	32371841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.007000	0.40883	1.279000	0.44446	0.655000	0.94253	AAG		0.577	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		11	24	0	0	0	1	0	11	24					C	32480574	G	C	32480574	3	2	89	1	0	0	0	0	1	0	0	0	1428	991	35	5	1203	5	BICD1	12	32480574	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		32480574	101371321	22	1681										
KLF12	11278	broad.mit.edu	37	chr13	74339086	74339086	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	tatactcaccaaggaaacttTtgattattcattcgattgcc	5	9	2	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr13:74339086T>C	ENST00000377669.2	-	5	884	c.858A>G	c.(856-858)caA>caG	p.Q286Q	KLF12_ENST00000377666.4_Silent_p.Q286Q	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	286					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		aaggaaacttttgattattca	0.373																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(856-858)caA>caG		Kruppel-like factor 12							101	96	97					13																	74339086		2203	4300	6503	SO:0001819	synonymous_variant	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74339086T>C	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.858A>G	13.37:g.74339086T>C						KLF12_ENST00000377666.4_Silent_p.Q286Q	p.Q286Q	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	5	884	-		Prostate(6;0.00217)|Breast(118;0.0838)	286					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	c.858A>G	CCDS9449.1																																																																																				0.373	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		58	88	0	0	0	1	0	58	88					C	74339086	T	C	74339086	2	2	89	1	0	0	0	0	0	0	0	1	8340	1838	64	4		4	KLF12	13	74339086	Silent	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08		74339086	40830792	23	1682										
PAPOLA	10914	broad.mit.edu	37	chr14	97022548	97022548	+	Frame_Shift_Del	DEL	A	A	-													0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	cattcctcaaactgccacacAaccagccatttctccaccac							TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr14:97022548delA	ENST00000216277.8	+	19	2022	c.1802delA	c.(1801-1803)caafs	p.Q601fs	PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.Q601fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	601	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACTGCCACACAACCAGCCATT	0.408																																					NSCLC(19;254 734 11908 35501 39234)	ENST00000216277.8																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21						c.(1801-1803)cafs		poly(A) polymerase alpha							156	142	147					14																	97022548		2203	4300	6503	SO:0001589	frameshift_variant	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:97022548delA	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1802delA	14.37:g.97022548delA	ENSP00000216277:p.Gln601fs					PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.Q601fs	p.Q601fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	19	2022	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	601			Ser/Thr-rich.		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Frame_Shift_Del	DEL	ENST00000216277.8	37	c.1802delA	CCDS9946.1																																																																																				0.408	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			91	131						91	131	---	---	---	---	-	97022548	A	-	97022548	7	5	89	1	0	1	0	1	0	0	0	0	11429	130	5	0	1876	0	PAPOLA	14	97022548	Frame_Shift_Del	DEL	A	TCGA-RW-A8AZ-01A-11D-A35D-08		97022548	10326992	24	1683										
DUOX2	50506	broad.mit.edu	37	chr15	45386413	45386413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	gttgacgagctgacaggcctTctctacattcttggtcattc	9	11	3	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr15:45386413T>C	ENST00000603300.1	-	34	4784	c.4582A>G	c.(4582-4584)Aag>Gag	p.K1528E	DUOX2_ENST00000389039.6_Missense_Mutation_p.K1528E	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1528					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGACAGGCCTTCTCTACATTC	0.577																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4582-4584)Aag>Gag		dual oxidase 2							134	114	121					15																	45386413		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45386413T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4582A>G	15.37:g.45386413T>C	ENSP00000475084:p.Lys1528Glu					DUOX2_ENST00000603300.1_Missense_Mutation_p.K1528E	p.K1528E			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	34	4967	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1528					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.4582A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652156	0.67472	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.36	4.23	0.50019	Ferric reductase, NAD binding (1);	0.140709	0.64402	D	0.000006	T	0.48607	0.1509	L	0.46885	1.475	0.48040	D	0.999578	B	0.34226	0.443	B	0.36092	0.217	T	0.42899	-0.9424	9	0.39692	T	0.17	-14.282	7.7791	0.29054	0.0:0.0746:0.1389:0.7865	.	1528	Q9NRD8	DUOX2_HUMAN	E	1528	.	ENSP00000373691:K1528E	K	-	1	0	DUOX2	43173705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.239000	0.58694	0.980000	0.38523	0.533000	0.62120	AAG		0.577	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		10	20	0	0	0	1	0	10	20					C	45386413	T	C	45386413	3	2	89	1	0	0	0	0	1	0	0	0	4801	1792	62	4	68	4	DUOX2	15	45386413	Missense_Mutation	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08		45386413	57144979	25	1684										
ATP2A1	487	broad.mit.edu	37	chr16	28909760	28909760	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ctggatgactctgccaggttCctggagtatgaggtaagcag	14	8	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr16:28909760C>T	ENST00000357084.3	+	14	2019	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	ATP2A1_ENST00000395503.4_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	584					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGCCAGGTTCCTGGAGTATG	0.652																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1750-1752)ttC>ttT		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							21	23	22					16																	28909760		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909760C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1752C>T	16.37:g.28909760C>T						ATP2A1_ENST00000357084.3_Silent_p.F584F|ATP2A1_ENST00000536376.1_Silent_p.F459F	p.F584F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1936	+			584					A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.1752C>T	CCDS10643.1																																																																																				0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		5	26	0	0	0	1	0	5	26					T	28909760	C	T	28909760	2	4	89	1	0	0	0	0	0	0	0	1	1136	854	30	3		3	ATP2A1	16	28909760	Silent	SNP	C	TCGA-RW-A8AZ-01A-11D-A35D-08		28909760	61444993	26	1685										
KLHL36	79786	broad.mit.edu	37	chr16	84693464	84693464	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	aatgagaacggagcgctctcTtcagtagagacgtacagtcc	11	10	2	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr16:84693464T>A	ENST00000564996.1	+	4	1377	c.1236T>A	c.(1234-1236)tcT>tcA	p.S412S	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	412					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAGCGCTCTCTTCAGTAGAGA	0.572																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1234-1236)tcT>tcA		kelch-like family member 36							107	98	101					16																	84693464		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84693464T>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1236T>A	16.37:g.84693464T>A						KLHL36_ENST00000258157.5_Intron	p.S412S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			4	1377	+			412					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.1236T>A	CCDS10948.1																																																																																				0.572	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			28	52	0	0	0	1	0	28	52					A	84693464	T	A	84693464	2	1	89	1	0	0	0	0	0	0	0	1	8389	1596	56	5		5	KLHL36	16	84693464	Silent	SNP	T	TCGA-RW-A8AZ-01A-11D-A35D-08	55783704	84693464	5661289	27	1686										
DVL2	1856	broad.mit.edu	37	chr17	7129360	7129360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	catcatgaccaccatcatggGgttgtaggggagggccatgc	14	10	2	1	rs147610025		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr17:7129360G>A	ENST00000005340.5	-	15	2317	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	MIR324_ENST00000362183.1_RNA|DVL2_ENST00000575458.1_Missense_Mutation_p.P673S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	679					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						ACCATCATGGGGTTGTAGGGG	0.672																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(2035-2037)Ccc>Tcc		dishevelled segment polarity protein 2		G	SER/PRO	0,4406		0,0,2203	35	41	39		2035	5.2	1	17	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	yes	missense	DVL2	NM_004422.2	74	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	679/737	7129360	1,13003	2203	4299	6502	SO:0001583	missense	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.chr17:7129360G>A	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.2035C>T	17.37:g.7129360G>A	ENSP00000005340:p.Pro679Ser					DVL2_ENST00000575458.1_Missense_Mutation_p.P673S	p.P679S	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			15	2317	-			679					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.2035C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839855	0.51057	0.0	1.16E-4	ENSG00000004975	ENST00000005340	T	0.04360	3.64	5.21	5.21	0.72293	Dishevelled C-terminal (1);	0.255835	0.37669	N	0.001986	T	0.10766	0.0263	M	0.77103	2.36	0.58432	D	0.999994	P;P	0.42078	0.77;0.77	B;B	0.42163	0.378;0.378	T	0.10870	-1.0611	10	0.25106	T	0.35	-19.3798	16.2909	0.82752	0.0:0.0:1.0:0.0	.	673;679	B4DLQ0;O14641	.;DVL2_HUMAN	S	679	ENSP00000005340:P679S	ENSP00000005340:P679S	P	-	1	0	DVL2	7070084	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.381000	0.79718	2.712000	0.92718	0.561000	0.74099	CCC		0.672	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		19	26	0	0	0	1	0	19	26					A	7129360	G	A	7129360	3	1	89	1	0	0	0	0	1	0	0	0	4836	1232	43	3	179	3	DVL2	17	7129360	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		7129360	74065850	28	1687										
PRKAR1A	5573	broad.mit.edu	37	chr17	66521051	66521051	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	taacttttttaccctcttttAggtgatgaaggggataactt	8	6	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr17:66521051A>G	ENST00000589228.1	+	6	630		c.e6-1		PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACCCTCTTTTAGGTGATGAAG	0.289			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"T, Mis, N, F, S"	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"			"E, M"	RET	"myxoma, endocrine, papillary thyroid"	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.e6-1		protein kinase, cAMP-dependent, regulatory, type I, alpha							112	119	116					17																	66521051		2203	4300	6503	SO:0001630	splice_region_variant	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66521051A>G		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.503-1A>G	17.37:g.66521051A>G						PRKAR1A_ENST00000358598.2_Splice_Site|PRKAR1A_ENST00000586397.1_Splice_Site|PRKAR1A_ENST00000392711.1_Splice_Site|PRKAR1A_ENST00000536854.2_Splice_Site|PRKAR1A_ENST00000588188.2_Splice_Site		NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			6	630	+	Breast(10;1.64e-13)							K7ER48|Q567S7	Splice_Site	SNP	ENST00000589228.1	37		CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.212374	0.79240	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1973	0.82040	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAR1A	64032646	1.000000	0.71417	0.939000	0.37840	0.908000	0.53690	8.962000	0.93254	2.222000	0.72286	0.533000	0.62120	.		0.289	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		Intron	56	95	0	0	0	1	0	56	95					G	66521051	A	G	66521051	5	3	89	1	0	0	0	0	0	0	1	0	12503	434	15	4	519	4	PRKAR1A	17	66521051	Splice_Site	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08	59391691	66521051	14674159	29	1688										
MUC16	94025	broad.mit.edu	37	chr19	9000200	9000200	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	gggccaacactggtgttcttGaacacaggcctgagctgtgg	14	10	1	2			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr19:9000200G>C	ENST00000397910.4	-	55	40760	c.40557C>G	c.(40555-40557)ttC>ttG	p.F13519L	MUC16_ENST00000380951.5_Missense_Mutation_p.F160L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13521	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGTTCTTGAACACAGGCC	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40555-40557)ttC>ttG		mucin 16, cell surface associated							113	94	100					19																	9000200		2026	4186	6212	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000200G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40557C>G	19.37:g.9000200G>C	ENSP00000381008:p.Phe13519Leu					MUC16_ENST00000380951.5_Missense_Mutation_p.F160L	p.F13519L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			55	40760	-			13521	Missing (in Ref. 3; AAK74120).		SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40557C>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.91|11.91	1.781119|1.781119	0.31502|0.31502	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.48836|.	0.8;0.8|.	2.9|2.9	-1.28|-1.28	0.09318|0.09318	SEA (3);|.	.|.	.|.	.|.	.|.	T|.	0.50137|.	0.1598|.	M|M	0.75264|0.75264	2.295|2.295	.|.	.|.	.|.	B;P|.	0.42161|.	0.001;0.772|.	B;D|.	0.65010|.	0.007;0.931|.	T|.	0.55761|.	-0.8090|.	8|.	0.32370|.	T|.	0.25|.	-15.5012|-15.5012	5.1141|5.1141	0.14825|0.14825	0.1316:0.4103:0.4581:0.0|0.1316:0.4103:0.4581:0.0	.|.	21164;13519|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	L|X	13519;160|359	ENSP00000381008:F13519L;ENSP00000370338:F160L|.	ENSP00000370338:F160L|.	F|S	-|-	3|2	2|0	MUC16|MUC16	8861200|8861200	0.153000|0.153000	0.22777|0.22777	0.043000|0.043000	0.18650|0.18650	0.078000|0.078000	0.17371|0.17371	0.507000|0.507000	0.22675|0.22675	-0.252000|-0.252000	0.09528|0.09528	-0.680000|-0.680000	0.03767|0.03767	TTC|TCA		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	53	0	0	0	1	0	26	53					C	9000200	G	C	9000200	3	2	89	1	0	0	0	0	1	0	0	0	9973	1281	45	5	3086	5	MUC16	19	9000200	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		9000200	50128783	30	1689										
CDK5RAP1	51654	broad.mit.edu	37	chr20	31984647	31984647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ctgaagacagcttctcctgaGgagctgaggcactttttaaa	10	9	1	4	rs370504202		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr20:31984647G>A	ENST00000357886.4	-	2	377	c.224C>T	c.(223-225)cCt>cTt	p.P75L	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000477105.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	75	CDK5 activation inhibition.				brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTTCTCCTGAGGAGCTGAGGC	0.493																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(223-225)cCt>cTt		CDK5 regulatory subunit associated protein 1		G	,LEU/PRO	0,4406		0,0,2203	130	130	130		,224	5.4	1	20		130	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense	CDK5RAP1	NM_016082.3,NM_016408.2	,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,75/588	31984647	1,13005	2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31984647G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"chromosome 20 open reading frame 34"	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.224C>T	20.37:g.31984647G>A	ENSP00000350558:p.Pro75Leu					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000452723.3_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P75L|CDK5RAP1_ENST00000473997.1_5'UTR	p.P75L			Q96SZ6	CK5P1_HUMAN			2	377	-			75			CDK5 activation inhibition.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.224C>T		.	.	.	.	.	.	.	.	.	.	G	15.31	2.794781	0.50102	0.0	1.16E-4	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000544843	.	.	.	5.42	5.42	0.78866	.	0.483231	0.24638	N	0.036832	T	0.57519	0.2059	L	0.46157	1.445	0.58432	D	0.999995	B;B;B;B;B;B	0.30634	0.0;0.288;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.32533	0.001;0.147;0.002;0.001;0.002;0.005	T	0.56697	-0.7936	9	0.45353	T	0.12	-10.688	14.5855	0.68320	0.0:0.0:1.0:0.0	.	75;75;75;75;75;75	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3	.;.;CK5P1_HUMAN;.;.;.	L	75	.	ENSP00000341840:P75L	P	-	2	0	CDK5RAP1	31448308	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.937000	0.48979	2.826000	0.97356	0.491000	0.48974	CCT		0.493	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		48	64	0	0	0	1	0	48	64					A	31984647	G	A	31984647	3	1	89	1	0	0	0	0	1	0	0	0	3145	1000	35	3	1591	3	CDK5RAP1	20	31984647	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08		31984647	31040873	31	1690										
R3HDML	140902	broad.mit.edu	37	chr20	42965958	42965958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ggaggtgcccaggtaccgccGgaagcgccacatctctgtga	14	13	1	1	rs539665398		TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr20:42965958G>A	ENST00000217043.2	+	1	333	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	54						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGGTACCGCCGGAAGCGCCAC	0.592																																						ENST00000217043.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21						c.(160-162)cGg>cAg		R3H domain containing-like							59	55	56					20																	42965958		2203	4300	6503	SO:0001583	missense	140902					extracellular region	peptidase inhibitor activity	g.chr20:42965958G>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.161G>A	20.37:g.42965958G>A	ENSP00000217043:p.Arg54Gln						p.R54Q	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	333	+		Myeloproliferative disorder(115;0.028)	54						Missense_Mutation	SNP	ENST00000217043.2	37	c.161G>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785016	0.31593	.	.	ENSG00000101074	ENST00000217043	T	0.09630	2.96	5.18	4.23	0.50019	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.66939	2.045	0.46823	D	0.999211	B	0.33171	0.4	B	0.20955	0.032	T	0.07578	-1.0765	10	0.12766	T	0.61	.	13.782	0.63087	0.0747:0.0:0.9253:0.0	.	54	Q9H3Y0	CRSPL_HUMAN	Q	54	ENSP00000217043:R54Q	ENSP00000217043:R54Q	R	+	2	0	R3HDML	42399372	0.893000	0.30496	0.997000	0.53966	0.204000	0.24138	1.256000	0.32921	1.181000	0.42912	0.385000	0.25706	CGG		0.592	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491		25	28	0	0	0	1	0	25	28					A	42965958	G	A	42965958	3	1	89	1	0	0	0	0	1	0	0	0	12889	1116	39	2	163	2	R3HDML	20	42965958	Missense_Mutation	SNP	G	TCGA-RW-A8AZ-01A-11D-A35D-08	10981311	42965958	20059562	32	1691										
CECR5	27440	broad.mit.edu	37	chr22	17619599	17619599	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ctttctggtaaatggtttccAggcacagcagaaaggtgcca	11	9	1	1			TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chr22:17619599A>G	ENST00000336737.4	-	7	801	c.776T>C	c.(775-777)cTg>cCg	p.L259P	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.L229P	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	259						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AATGGTTTCCAGGCACAGCAG	0.542																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(775-777)cTg>cCg		cat eye syndrome chromosome region, candidate 5							160	150	153					22																	17619599		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619599A>G	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.776T>C	22.37:g.17619599A>G	ENSP00000337358:p.Leu259Pro					CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.L229P	p.L259P	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	801	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	259					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.776T>C	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443857	0.83993	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.35605	1.3;1.3	4.73	4.73	0.59995	HAD-like domain (1);	0.000000	0.64402	D	0.000001	T	0.68906	0.3052	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.78625	-0.2131	10	0.87932	D	0	-18.2214	14.3822	0.66919	1.0:0.0:0.0:0.0	.	229;259;123	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	P	229;259	ENSP00000155674:L229P;ENSP00000337358:L259P	ENSP00000155674:L229P	L	-	2	0	CECR5	15999599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.694000	0.91293	1.984000	0.57885	0.448000	0.29417	CTG		0.542	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		56	92	0	0	0	1	0	56	92					G	17619599	A	G	17619599	3	3	89	1	0	0	0	0	1	0	0	0	3207	188	7	4	503	4	CECR5	22	17619599	Missense_Mutation	SNP	A	TCGA-RW-A8AZ-01A-11D-A35D-08		17619599	33684967	33	1692										
ATRX	546	broad.mit.edu	37	chrX	76937831	76937834	+	Frame_Shift_Del	DEL	GGTC	GGTC	-													0.117647058823529	4	1	1.73670212765957	2.77872340425532	1.26305609284333	1	1	0	ttcagaagtttcatcgctctGgtctttctttaggaatttct							TCGA-RW-A8AZ-01A-11D-A35D-08	TCGA-RW-A8AZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec9933fb-3414-4b9d-b130-f2bfac80bd56	6925a666-cb03-4e59-9a60-4246a41f30dd	g.chrX:76937831_76937834delGGTC	ENST00000373344.5	-	9	3128_3131	c.2914_2917delGACC	c.(2914-2919)gaccagfs	p.DQ972fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	972					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCATCGCTCTGGTCTTTCTTTAGG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2914-2919)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937831_76937834delGGTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2914_2917delGACC	X.37:g.76937831_76937834delGGTC	ENSP00000362441:p.Asp972fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.DQ934fs	p.DQ972fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3128_3131	-			972					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2914_2917delGACC	CCDS14434.1																																																																																				0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		179	37						179	37	---	---	---	---	-	76937834	GGTC	-	76937831	7	5	89	1	0	1	0	1	0	0	0	0	1208	1357	47	0	4669	0	ATRX	23	76937831	Frame_Shift_Del	DEL	GGTC	TCGA-RW-A8AZ-01A-11D-A35D-08		76937831	78332729	34	1693										
C1orf25	81627	broad.mit.edu	37	chr1	185108572	185108572	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	tcggacaatgttacatccgtAgtgacgccgggcaacatgct	11	11	0	1			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr1:185108572A>G	ENST00000367506.5	-	9	1517	c.1249T>C	c.(1249-1251)Tac>Cac	p.Y417H	TRMT1L_ENST00000367504.3_Missense_Mutation_p.Y261H	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	417	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTACATCCGTAGTGACGCCGG	0.428																																						ENST00000367504.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(781-783)Tac>Cac		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							83	76	78					1																	185108572		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185108572A>G	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1249T>C	1.37:g.185108572A>G	ENSP00000356476:p.Tyr417His					TRMT1L_ENST00000367506.5_Missense_Mutation_p.Y417H	p.Y261H			Q7Z2T5	TRM1L_HUMAN			9	1520	-			417					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.781T>C	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830002	0.91036	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87098	0.2177	9	0.87932	D	0	-17.258	16.3947	0.83586	1.0:0.0:0.0:0.0	.	417	Q7Z2T5	TRM1L_HUMAN	H	261;417;41	.	ENSP00000356474:Y261H	Y	-	1	0	TRMT1L	183375195	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.027000	0.93706	2.272000	0.75746	0.459000	0.35465	TAC		0.428	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		5	52	0	0	0	1	0	5	52					G	185108572	A	G	185108572	3	3	90	1	0	0	0	0	1	0	0	0	2034	420	15	4	980	4	C1orf25	1	185108572	Missense_Mutation	SNP	A	TCGA-RX-A8JQ-01A-11D-A35D-08		185108572	64142049	1	1694										
DNAH7	56171	broad.mit.edu	37	chr2	196737103	196737103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	tgagatttagctggagtaggCaagagattcttcattgcttc	11	6	2	2			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr2:196737103C>G	ENST00000312428.6	-	40	6604	c.6504G>C	c.(6502-6504)ttG>ttC	p.L2168F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2168	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGGAGTAGGCAAGAGATTCT	0.368																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6502-6504)ttG>ttC		dynein, axonemal, heavy chain 7							180	165	170					2																	196737103		1860	4104	5964	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737103C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6504G>C	2.37:g.196737103C>G	ENSP00000311273:p.Leu2168Phe						p.L2168F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6604	-			2168			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6504G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136682	0.56936	.	.	ENSG00000118997	ENST00000312428	T	0.52754	0.65	4.53	2.68	0.31781	.	0.000000	0.64402	D	0.000003	T	0.73257	0.3564	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72950	-0.4136	10	0.87932	D	0	.	2.9171	0.05756	0.2578:0.4425:0.0:0.2997	.	2168	Q8WXX0	DYH7_HUMAN	F	2168	ENSP00000311273:L2168F	ENSP00000311273:L2168F	L	-	3	2	DNAH7	196445348	0.247000	0.23920	1.000000	0.80357	0.944000	0.59088	-0.401000	0.07232	1.227000	0.43598	0.650000	0.86243	TTG		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		8	106	0	0	0	1	0	8	106					G	196737103	C	G	196737103	3	3	90	1	0	0	0	0	1	0	0	0	4606	709	25	5	5674	5	DNAH7	2	196737103	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		196737103	46462270	2	1695										
BRAF	673	broad.mit.edu	37	chr7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	actttcccttgtagactgttCcaaatgatccagatccaatt	5	11	0	3	rs121913358|rs397516890|rs121913355		TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)gGa>gCa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						174	149	158					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>C	7.37:g.140481402C>G	ENSP00000288602:p.Gly469Ala						p.G469A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1466	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088365|5.088365	0.94100|0.94100	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.89415	.|-2.51	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92008|0.92008	0.7468|0.7468	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58210	.|0.835	D|D	0.92595|0.92595	0.6086|0.6086	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	Q|A	77|469	.|ENSP00000288602:G469A	.|ENSP00000288602:G469A	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		70	45	0	0	0	1	0	70	45					G	140481402	C	G	140481402	3	3	90	1	0	0	0	0	1	0	0	0	1496	855	30	5	926	5	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		140481402	18657261	3	1696										
PRUNE2	158471	broad.mit.edu	37	chr9	79324952	79324952	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	gtatttggcaaaggtgacttCtccatgggcaggttctggaa	13	7	2	1			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr9:79324952C>G	ENST00000376718.3	-	8	2361	c.2238G>C	c.(2236-2238)gaG>gaC	p.E746D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E387D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	746					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGGTGACTTCTCCATGGGCA	0.498																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(1159-1161)gaG>gaC		prune homolog 2 (Drosophila)							58	53	54					9																	79324952		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324952C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2238G>C	9.37:g.79324952C>G	ENSP00000365908:p.Glu746Asp					PRUNE2_ENST00000376718.3_Missense_Mutation_p.E746D	p.E387D			Q8WUY3	PRUN2_HUMAN			8	2361	-			746					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1161G>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.310|9.310	1.055284|1.055284	0.19907|0.19907	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|T	0.26518|0.25912	1.73;1.73|1.77	5.85|5.85	1.78|1.78	0.24846|0.24846	.|.	0.000000|0.000000	0.52532|0.52532	D|D	0.000080|0.000080	T|T	0.29945|0.29945	0.0749|0.0749	M|M	0.64997|0.64997	1.995|1.995	0.25663|0.25663	N|N	0.985975|0.985975	B|.	0.32653|.	0.379|.	B|.	0.26517|.	0.07|.	T|T	0.13818|0.13818	-1.0495|-1.0495	10|8	0.39692|0.66056	T|D	0.17|0.02	-18.932|-18.932	5.3676|5.3676	0.16123|0.16123	0.0:0.5177:0.1352:0.347|0.0:0.5177:0.1352:0.347	.|.	746|.	Q8WUY3|.	PRUN2_HUMAN|.	D|Q	746;387;745|68	ENSP00000365908:E746D;ENSP00000397425:E387D|ENSP00000389706:E68Q	ENSP00000365908:E746D|ENSP00000389706:E68Q	E|E	-|-	3|1	2|0	PRUNE2|PRUNE2	78514772|78514772	0.866000|0.866000	0.29940|0.29940	0.153000|0.153000	0.22517|0.22517	0.009000|0.009000	0.06853|0.06853	0.880000|0.880000	0.28159|0.28159	0.374000|0.374000	0.24650|0.24650	0.563000|0.563000	0.77884|0.77884	GAG|GAA		0.498	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	15	0	0	0	1	0	7	15					G	79324952	C	G	79324952	3	3	90	1	0	0	0	0	1	0	0	0	12641	912	32	5	7076	5	PRUNE2	9	79324952	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		79324952	61888479	4	1697										
PARD3	56288	broad.mit.edu	37	chr10	34985327	34985327	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	ccatgttccaagcgatgcacCtgtatccagtagtttggatc	9	11	0	0			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr10:34985327C>T	ENST00000374789.3	-	2	466	c.141G>A	c.(139-141)caG>caA	p.Q47Q	PARD3_ENST00000346874.4_Silent_p.Q47Q|PARD3_ENST00000374790.3_Silent_p.Q47Q|PARD3_ENST00000374773.1_Silent_p.Q47Q|PARD3_ENST00000374794.3_Silent_p.Q47Q|PARD3_ENST00000545693.1_Silent_p.Q47Q|PARD3_ENST00000374788.3_Silent_p.Q47Q|PARD3_ENST00000340077.5_Silent_p.Q47Q|PARD3_ENST00000545260.1_Silent_p.Q47Q|PARD3_ENST00000350537.4_Silent_p.Q47Q|PARD3_ENST00000374776.1_Silent_p.Q47Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	47					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGCGATGCACCTGTATCCAGT	0.413																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(139-141)caG>caA		par-3 family cell polarity regulator							284	240	255					10																	34985327		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34985327C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.141G>A	10.37:g.34985327C>T						PARD3_ENST00000346874.4_Silent_p.Q47Q|PARD3_ENST00000350537.4_Silent_p.Q47Q|PARD3_ENST00000374773.1_Silent_p.Q47Q|PARD3_ENST00000374776.1_Silent_p.Q47Q|PARD3_ENST00000545693.1_Silent_p.Q47Q|PARD3_ENST00000545260.1_Silent_p.Q47Q|PARD3_ENST00000374794.3_Silent_p.Q47Q|PARD3_ENST00000374788.3_Silent_p.Q47Q|PARD3_ENST00000340077.5_Silent_p.Q47Q|PARD3_ENST00000374790.3_Silent_p.Q47Q	p.Q47Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			2	466	-		Breast(68;0.0707)	47					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.141G>A	CCDS7178.1																																																																																				0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	105	0	0	0	1	0	4	105					T	34985327	C	T	34985327	2	4	90	1	0	0	0	0	0	0	0	1	11443	680	24	3		3	PARD3	10	34985327	Silent	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		34985327	100549420	5	1698										
B4GALNT4	338707	broad.mit.edu	37	chr11	376159	376159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	gtgcttctaccgcgagtctcCgctgtatctggagaggtggg	15	10	3	1			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr11:376159C>T	ENST00000329962.6	+	12	1181	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	394					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)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGAGTCTCCGCTGTATCTG	0.672																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(1180-1182)cCg>cTg		beta-1,4-N-acetyl-galactosaminyl transferase 4							26	26	26					11																	376159		2200	4290	6490	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376159C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1181C>T	11.37:g.376159C>T	ENSP00000328277:p.Pro394Leu						p.P394L	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1181	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	394					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.1181C>T	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.009641	0.75046	.	.	ENSG00000182272	ENST00000329962	T	0.72725	-0.68	3.01	3.01	0.34805	.	0.320491	0.28307	N	0.015833	T	0.78997	0.4372	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82293	-0.0529	10	0.87932	D	0	-28.2981	15.2295	0.73374	0.0:1.0:0.0:0.0	.	394	Q76KP1	B4GN4_HUMAN	L	394	ENSP00000328277:P394L	ENSP00000328277:P394L	P	+	2	0	B4GALNT4	366159	1.000000	0.71417	0.646000	0.29493	0.658000	0.38924	5.596000	0.67570	1.978000	0.57642	0.436000	0.28706	CCG		0.672	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		11	19	0	0	0	1	0	11	19					T	376159	C	T	376159	3	4	90	1	0	0	0	0	1	0	0	0	1269	652	23	2	1227	2	B4GALNT4	11	376159	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		376159	134630357	6	1699										
PCDH8	5100	broad.mit.edu	37	chr13	53421442	53421444	+	In_Frame_Del	DEL	GCG	GCG	-													0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	cgtccgctcccccgagtgcaGcggcggcggcggcagcggcg							TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr13:53421442_53421444delGCG	ENST00000377942.3	-	1	1331_1333	c.1128_1130delCGC	c.(1126-1131)gccgct>gct	p.376_377AA>A	PCDH8_ENST00000338862.4_In_Frame_Del_p.376_377AA>A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	376					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCGAGTGCAGCGGCGGCGGCGG	0.759																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1126-1131)gct>gc		protocadherin 8			,	13,1651		1,11,820					,	-7.9	0.3			4	27,3629		1,25,1802	no	coding,coding	PCDH8	NM_032949.2,NM_002590.3	,	2,36,2622	A1A1,A1R,RR		0.7385,0.7812,0.7519	,	,		40,5280				SO:0001651	inframe_deletion	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421442_53421444delGCG	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1128_1130delCGC	13.37:g.53421451_53421453delGCG	ENSP00000367177:p.Ala378del					PCDH8_ENST00000338862.4_In_Frame_Del_p.AA376del	p.AA376del	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1331_1333	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	376					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	In_Frame_Del	DEL	ENST00000377942.3	37	c.1128_1130delCGC	CCDS9438.1																																																																																				0.759	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		2	4						2	4	---	---	---	---	-	53421444	GCG	-	53421442	7	5	90	1	0	1	0	1	0	0	0	0	11517	971	34	0	2094	0	PCDH8	13	53421442	In_Frame_Del	DEL	GCG	TCGA-RX-A8JQ-01A-11D-A35D-08		53421442	61748436	7	1700										
ALOX15B	247	broad.mit.edu	37	chr17	7948675	7948675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	ctataccagagcccaggctgCgggccgctgctgcctctcgc	12	17	1	1	rs367774742		TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr17:7948675C>T	ENST00000380183.4	+	7	1108	c.969C>T	c.(967-969)tgC>tgT	p.C323C	ALOX15B_ENST00000380173.2_Silent_p.C323C|ALOX15B_ENST00000573359.1_Silent_p.C323C|ALOX15B_ENST00000572022.1_Silent_p.C323C	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	323	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCCCAGGCTGCGGGCCGCTGC	0.592																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(967-969)tgC>tgT		arachidonate 15-lipoxygenase, type B		C	,,	3,4403	6.2+/-15.9	0,3,2200	35	39	38		969,969,969	-4.7	0	17		38	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ALOX15B	NM_001039130.1,NM_001039131.1,NM_001141.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	323/648,323/603,323/677	7948675	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948675C>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.969C>T	17.37:g.7948675C>T						ALOX15B_ENST00000380173.2_Silent_p.C323C|ALOX15B_ENST00000573359.1_Silent_p.C323C|ALOX15B_ENST00000572022.1_Silent_p.C323C	p.C323C	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			7	1108	+			323			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.969C>T	CCDS11128.1																																																																																				0.592	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			14	28	0	0	0	1	0	14	28					T	7948675	C	T	7948675	2	4	90	1	0	0	0	0	0	0	0	1	539	776	27	1		1	ALOX15B	17	7948675	Silent	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08		7948675	73246535	8	1701										
IKZF3	22806	broad.mit.edu	37	chr17	37922252	37922252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	ctccccttccttgttgatcaCtttgacggagtctcttgggc	9	13	2	2			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr17:37922252C>T	ENST00000346872.3	-	8	1382	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	IKZF3_ENST00000377944.3_Missense_Mutation_p.V298M|IKZF3_ENST00000351680.3_Missense_Mutation_p.V402M|IKZF3_ENST00000439167.2_Missense_Mutation_p.V368M|IKZF3_ENST00000377952.2_Missense_Mutation_p.V220M|IKZF3_ENST00000467757.1_Missense_Mutation_p.V385M|IKZF3_ENST00000439016.2_Missense_Mutation_p.V346M|IKZF3_ENST00000394189.2_Missense_Mutation_p.V259M|IKZF3_ENST00000350532.3_Missense_Mutation_p.V402M|IKZF3_ENST00000377958.2_Missense_Mutation_p.V354M|IKZF3_ENST00000583368.1_Missense_Mutation_p.V194M|IKZF3_ENST00000346243.3_Missense_Mutation_p.V363M|IKZF3_ENST00000535189.1_Missense_Mutation_p.V407M|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377945.3_Missense_Mutation_p.V307M	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	441					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTGTTGATCACTTTGACGGAG	0.572																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1321-1323)Gtg>Atg		IKAROS family zinc finger 3 (Aiolos)							138	137	137					17																	37922252		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922252C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1321G>A	17.37:g.37922252C>T	ENSP00000344544:p.Val441Met					IKZF3_ENST00000377944.3_Missense_Mutation_p.V298M|IKZF3_ENST00000351680.3_Missense_Mutation_p.V402M|IKZF3_ENST00000583368.1_Missense_Mutation_p.V194M|IKZF3_ENST00000350532.3_Missense_Mutation_p.V402M|IKZF3_ENST00000377945.3_Missense_Mutation_p.V307M|IKZF3_ENST00000346243.3_Missense_Mutation_p.V363M|IKZF3_ENST00000535189.1_Missense_Mutation_p.V407M|IKZF3_ENST00000377958.2_Missense_Mutation_p.V354M|IKZF3_ENST00000439016.2_Missense_Mutation_p.V346M|IKZF3_ENST00000439167.2_Missense_Mutation_p.V368M|IKZF3_ENST00000394189.2_Missense_Mutation_p.V259M|IKZF3_ENST00000467757.1_Missense_Mutation_p.V385M|IKZF3_ENST00000377952.2_Missense_Mutation_p.V220M	p.V441M	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1382	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		441					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1321G>A	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898043	0.91962	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	D;D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.72	5.72	0.89469	.	0.000000	0.52532	D	0.000061	D	0.98261	0.9424	M	0.73372	2.23	0.58432	D	0.999999	D;D;D;D;D;P;D;D;D;P;D;D;B	0.89917	1.0;1.0;1.0;1.0;1.0;0.918;0.999;1.0;0.998;0.918;1.0;1.0;0.264	D;D;D;D;D;P;D;D;D;P;D;D;B	0.91635	0.999;0.999;0.999;0.999;0.999;0.835;0.999;0.999;0.918;0.882;0.999;0.999;0.325	D	0.98074	1.0400	10	0.42905	T	0.14	-17.8363	19.8646	0.96799	0.0:1.0:0.0:0.0	.	354;220;259;307;298;407;363;346;402;385;402;368;441	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	M	441;346;307;259;298;354;220;407;402;363;402;385	ENSP00000367180:V307M;ENSP00000377741:V259M;ENSP00000367179:V298M;ENSP00000367194:V354M;ENSP00000367188:V220M;ENSP00000438972:V407M;ENSP00000345622:V402M;ENSP00000341977:V363M;ENSP00000344471:V402M;ENSP00000420463:V385M	ENSP00000341977:V363M	V	-	1	0	IKZF3	35175778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	GTG		0.572	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		8	94	0	0	0	1	0	8	94					T	37922252	C	T	37922252	3	4	90	1	0	0	0	0	1	0	0	0	7616	565	20	3	212	3	IKZF3	17	37922252	Missense_Mutation	SNP	C	TCGA-RX-A8JQ-01A-11D-A35D-08	29973577	37922252	43272958	9	1702										
GNA11	2767	broad.mit.edu	37	chr19	3115013	3115013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	gcaggacgtgctgcgggtccGcgtgcccaccaccggcatca	14	16	1	0			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr19:3115013G>A	ENST00000078429.4	+	4	790	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	183					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183H(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTGCGGGTCCGCGTGCCCACC	0.672			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"			E			uveal melanoma		1	Substitution - Missense(1)	p.R183H(1)	skin(1)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(547-549)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							107	98	101					19																	3115013		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3115013G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.548G>A	19.37:g.3115013G>A	ENSP00000078429:p.Arg183His						p.R183H	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	790	+		Hepatocellular(1079;0.137)	183					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.548G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	32	5.174266	0.94807	.	.	ENSG00000088256	ENST00000078429	D	0.92048	-2.96	3.92	3.92	0.45320	G protein alpha subunit, helical insertion (1);	0.000000	0.64402	D	0.000007	D	0.97514	0.9186	H	0.98178	4.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98897	1.0775	10	0.87932	D	0	.	14.5421	0.68002	0.0:0.0:1.0:0.0	.	183	P29992	GNA11_HUMAN	H	183	ENSP00000078429:R183H	ENSP00000078429:R183H	R	+	2	0	GNA11	3066013	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	9.681000	0.98653	1.752000	0.51891	0.556000	0.70494	CGC		0.672	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		7	111	0	0	0	1	0	7	111					A	3115013	G	A	3115013	3	1	90	1	0	0	0	0	1	0	0	0	6499	1087	38	1	562	1	GNA11	19	3115013	Missense_Mutation	SNP	G	TCGA-RX-A8JQ-01A-11D-A35D-08		3115013	56013970	10	1703										
FFAR2	2867	broad.mit.edu	37	chr19	35940863	35940863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	acctgcccaaggtcgtctgcGccctcacgagttttggcttc	10	15	2	0			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr19:35940863G>A	ENST00000599180.2	+	2	327	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.A83T			O15552	FFAR2_HUMAN	free fatty acid receptor 2	83					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTCGTCTGCGCCCTCACGAG	0.627																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(247-249)Gcc>Acc		free fatty acid receptor 2							57	46	50					19																	35940863		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940863G>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.247G>A	19.37:g.35940863G>A	ENSP00000473159:p.Ala83Thr					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.A83T	p.A83T			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	327	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		83					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.247G>A	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108553	0.56291	.	.	ENSG00000126262	ENST00000246549	T	0.72167	-0.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.052849	0.85682	D	0.000000	T	0.78553	0.4301	M	0.68317	2.08	0.37046	D	0.897381	D	0.67145	0.996	P	0.58520	0.84	T	0.80226	-0.1470	10	0.38643	T	0.18	-36.7869	13.0793	0.59104	0.0:0.1612:0.8388:0.0	.	83	O15552	FFAR2_HUMAN	T	83	ENSP00000246549:A83T	ENSP00000246549:A83T	A	+	1	0	FFAR2	40632703	0.411000	0.25384	0.090000	0.20809	0.009000	0.06853	1.997000	0.40786	2.797000	0.96272	0.561000	0.74099	GCC		0.627	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		4	26	0	0	0	1	0	4	26					A	35940863	G	A	35940863	3	1	90	1	0	0	0	0	1	0	0	0	5828	1087	38	1	249	1	FFAR2	19	35940863	Missense_Mutation	SNP	G	TCGA-RX-A8JQ-01A-11D-A35D-08	32825850	35940863	23188120	11	1704										
PRAME	23532	broad.mit.edu	37	chr22	22893373	22893373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	0.937037037037037	3.12345679012346	0	1	1	0	ggctgccatgaagagtggcgGgaagagctccctgggcagca	17	10	0	3			TCGA-RX-A8JQ-01A-11D-A35D-08	TCGA-RX-A8JQ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07fb67b7-7096-4464-919d-cca6f3fb068b	c12b07a9-79c0-48da-8eef-39164023517d	g.chr22:22893373G>A	ENST00000398741.1	-	4	466	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	PRAME_ENST00000406503.1_Missense_Mutation_p.P54S|PRAME_ENST00000398743.2_Missense_Mutation_p.P54S|PRAME_ENST00000424204.2_Missense_Mutation_p.P38S|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000543184.1_Missense_Mutation_p.P54S|PRAME_ENST00000539862.1_Missense_Mutation_p.P38S|PRAME_ENST00000405655.3_Missense_Mutation_p.P54S|PRAME_ENST00000402697.1_Missense_Mutation_p.P54S	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	54					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AAGAGTGGCGGGAAGAGCTCC	0.637																																					Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(160-162)Ccg>Tcg		preferentially expressed antigen in melanoma							80	81	81					22																	22893373		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22893373G>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.160C>T	22.37:g.22893373G>A	ENSP00000381726:p.Pro54Ser					PRAME_ENST00000398741.1_Missense_Mutation_p.P54S|PRAME_ENST00000398743.2_Missense_Mutation_p.P54S|PRAME_ENST00000539862.1_Missense_Mutation_p.P38S|PRAME_ENST00000406503.1_Missense_Mutation_p.P54S|PRAME_ENST00000405655.3_Missense_Mutation_p.P54S|PRAME_ENST00000402697.1_Missense_Mutation_p.P54S|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000424204.2_Missense_Mutation_p.P38S	p.P54S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	3	1022	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	54					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.160C>T	CCDS13801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.88|18.88	3.718417|3.718417	0.68844|0.68844	.|.	.|.	ENSG00000185686|ENSG00000185686	ENST00000438888|ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709;ENST00000406503;ENST00000403441	.|T;T;T;T;T;T;T;T;T;T;T	.|0.06528	.|3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29	3.36|3.36	3.36|3.36	0.38483|0.38483	.|.	0.254754|0.254754	0.32416|0.32416	N|N	0.006139|0.006139	T|T	0.30916|0.30916	0.0780|0.0780	M|M	0.92367|0.92367	3.3|3.3	0.30304|0.30304	N|N	0.78915|0.78915	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.38866|0.38866	-0.9641|-0.9641	6|10	.|0.87932	.|D	.|0	.|.	13.0043|13.0043	0.58694|0.58694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|54	.|P78395	.|PRAME_HUMAN	L|S	77|54;54;54;54;38;54;38;54;54;54;54	.|ENSP00000381728:P54S;ENSP00000445675:P54S;ENSP00000381726:P54S;ENSP00000384343:P54S;ENSP00000445097:P38S;ENSP00000385198:P54S;ENSP00000407342:P38S;ENSP00000407320:P54S;ENSP00000412318:P54S;ENSP00000384058:P54S;ENSP00000385091:P54S	.|ENSP00000381726:P54S	P|P	-|-	2|1	0|0	PRAME|PRAME	21223373|21223373	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.656000|0.656000	0.38851|0.38851	3.789000|3.789000	0.55454|0.55454	2.179000|2.179000	0.69175|0.69175	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.637	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		3	39	0	0	0	1	0	3	39					A	22893373	G	A	22893373	3	1	90	1	0	0	0	0	1	0	0	0	12424	1232	43	3	1381	3	PRAME	22	22893373	Missense_Mutation	SNP	G	TCGA-RX-A8JQ-01A-11D-A35D-08		22893373	28411193	12	1705										
PRAMEF11	440560	broad.mit.edu	37	chr1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttggacagtcctgcactggtGttttgttcctcttggcattg	11	9	1	0	rs2486717	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493													.|||	12	0.00239617	0	0	5008	,	,		19361	0.0079		0	False		,,,				2504	0.0041					ENST00000535591.1																			1	Substitution - Missense(1)	p.T93K(1)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(277-279)aCa>aAa		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887579G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.278C>A	1.37:g.12887579G>T	ENSP00000439551:p.Thr93Lys						p.T93K	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	473	-			93						Missense_Mutation	SNP	ENST00000535591.1	37	c.278C>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.150051	0.01700	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04603	3.59;3.59	1.48	-2.96	0.05547	.	3.413660	0.01687	N	0.026476	T	0.01156	0.0038	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38672	-0.9650	10	0.12103	T	0.63	.	1.0378	0.01552	0.1543:0.2951:0.3093:0.2413	rs2486717	93	O60813	PRA11_HUMAN	K	93;134;93	ENSP00000439551:T93K;ENSP00000391839:T93K	ENSP00000328783:T134K	T	-	2	0	PRAMEF11	12810166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.627000	0.02033	-3.350000	0.00181	-0.731000	0.03576	ACA		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	271	1	0	0.000274275	1	0.000274275	5	271					T	12887579	G	T	12887579	3	4	91	1	0	0	0	0	1	0	0	0	12427	1377	48	5	1040	5	PRAMEF11	1	12887579	Missense_Mutation	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08		12887579	236363042	1	1706										
PGLYRP4	57115	broad.mit.edu	37	chr1	153312923	153312923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggatgtcccggaccagcaggCggcactcatcagaaatgttg	13	11	2	1			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr1:153312923C>T	ENST00000359650.5	-	7	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.R249H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	253					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCAGCAGGCGGCACTCATC	0.542																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(745-747)cGc>cAc		peptidoglycan recognition protein 4							101	97	99					1																	153312923		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153312923C>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.758G>A	1.37:g.153312923C>T	ENSP00000352672:p.Arg253His					PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R253H	p.R249H			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1104	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		253					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.746G>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996509	0.35226	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	-1.61	0.08399	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.754962	0.11756	N	0.532586	T	0.15392	0.0371	L	0.60455	1.87	0.09310	N	0.999991	D;D	0.71674	0.998;0.998	P;D	0.65987	0.901;0.94	T	0.07947	-1.0746	10	0.45353	T	0.12	-24.8992	7.2323	0.26049	0.0:0.3842:0.0:0.6158	.	249;253	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	249;253	ENSP00000357728:R249H;ENSP00000352672:R253H	ENSP00000352672:R253H	R	-	2	0	PGLYRP4	151579547	0.000000	0.05858	0.397000	0.26308	0.498000	0.33706	-1.787000	0.01764	-0.225000	0.09913	0.655000	0.94253	CGC		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		6	68	0	0	0	1	0	6	68					T	153312923	C	T	153312923	3	4	91	1	0	0	0	0	1	0	0	0	11796	768	27	1	375	1	PGLYRP4	1	153312923	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08	140425344	153312923	95937698	2	1707										
GREB1	9687	broad.mit.edu	37	chr2	11755408	11755408	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacgaggatgaggagctggGgacagaaggtgagggatggc	20	5	0	3			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr2:11755408G>C	ENST00000381486.2	+	20	3614	c.3314G>C	c.(3313-3315)gGg>gCg	p.G1105A	GREB1_ENST00000396123.1_Missense_Mutation_p.G103A|GREB1_ENST00000234142.5_Missense_Mutation_p.G1105A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1105						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGAGCTGGGGACAGAAGGT	0.567																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3313-3315)gGg>gCg		growth regulation by estrogen in breast cancer 1							48	56	53					2																	11755408		2154	4242	6396	SO:0001583	missense	9687					integral to membrane		g.chr2:11755408G>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3314G>C	2.37:g.11755408G>C	ENSP00000370896:p.Gly1105Ala					GREB1_ENST00000234142.5_Missense_Mutation_p.G1105A|GREB1_ENST00000396123.1_Missense_Mutation_p.G103A	p.G1105A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	20	3614	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1105					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3314G>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	8.440	0.850547	0.17034	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.20598	3.38;3.38;2.06	5.32	2.05	0.26809	.	0.592657	0.18300	N	0.145444	T	0.07728	0.0194	N	0.08118	0	0.28554	N	0.911452	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.06494	T	0.89	-54.1568	6.2501	0.20842	0.0:0.2849:0.2019:0.5132	.	1105	Q4ZG55	GREB1_HUMAN	A	1105;1105;103	ENSP00000370896:G1105A;ENSP00000234142:G1105A;ENSP00000379429:G103A	ENSP00000234142:G1105A	G	+	2	0	GREB1	11672859	0.867000	0.29959	0.980000	0.43619	0.983000	0.72400	1.204000	0.32296	0.144000	0.18951	0.561000	0.74099	GGG		0.567	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	3	0	0	0	1	0	5	3					C	11755408	G	C	11755408	3	2	91	1	0	0	0	0	1	0	0	0	6760	1232	43	5	3496	5	GREB1	2	11755408	Missense_Mutation	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08		11755408	231443965	3	1708										
KYNU	8942	broad.mit.edu	37	chr2	143715264	143715264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaacattgaagaaagtatgCggatgataaagccaagagag	11	4	0	4	rs147103103	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr2:143715264C>T	ENST00000264170.4	+	7	820	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KYNU_ENST00000375773.2_Missense_Mutation_p.R188W|KYNU_ENST00000409512.1_Missense_Mutation_p.R188W	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGAAAGTATGCGGATGATAAA	0.308													C|||	2	0.000399361	8e-04	0	5008	,	,		17662	0		0	False		,,,				2504	0.001					ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(562-564)Cgg>Tgg		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	111	108	109		562,562,562	5.2	1	2	dbSNP_134	109	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	KYNU	NM_001032998.1,NM_001199241.1,NM_003937.2	101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	188/308,188/466,188/466	143715264	1,13003	2203	4299	6502	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143715264C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"L-kynurenine hydrolase"	605197	"kynureninase (L-kynurenine hydrolase)"			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.562C>T	2.37:g.143715264C>T	ENSP00000264170:p.Arg188Trp					KYNU_ENST00000409512.1_Missense_Mutation_p.R188W|KYNU_ENST00000375773.2_Missense_Mutation_p.R188W	p.R188W	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	7	820	+			188		R -> Q (in dbSNP:rs2304705).				Missense_Mutation	SNP	ENST00000264170.4	37	c.562C>T	CCDS2183.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.8	4.573463	0.86542	0.0	1.16E-4	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	T;T;T	0.56941	0.43;0.43;0.43	5.24	5.24	0.73138	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.179758	0.37577	N	0.002029	T	0.62889	0.2465	L	0.47190	1.495	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58928	0.842;0.848	T	0.66200	-0.5983	10	0.87932	D	0	.	15.8896	0.79286	0.0:0.8646:0.1353:0.0	.	188;188	Q16719;Q9BVW3	KYNU_HUMAN;.	W	188	ENSP00000264170:R188W;ENSP00000364928:R188W;ENSP00000386731:R188W	ENSP00000264170:R188W	R	+	1	2	KYNU	143431734	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.408000	0.34668	2.428000	0.82296	0.585000	0.79938	CGG		0.308	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		3	49	0	0	0	1	0	3	49					T	143715264	C	T	143715264	3	4	91	1	0	0	0	0	1	0	0	0	8587	759	27	1	584	1	KYNU	2	143715264	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08	131959856	143715264	99484109	4	1709										
COL21A1	81578	broad.mit.edu	37	chr6	55966307	55966307	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	catcctgccccggagcaccaGgggatcctgcttctcccttt							TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:55966307delG	ENST00000244728.5	-	17	2172	c.1775delC	c.(1774-1776)cctfs	p.P592fs	COL21A1_ENST00000535941.1_Frame_Shift_Del_p.P592fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.P589fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	592	Collagen-like 3.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CGGAGCACCAGGGGATCCTGC	0.383																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1774-1776)ctfs		collagen, type XXI, alpha 1							35	39	38					6																	55966307		1833	4081	5914	SO:0001589	frameshift_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55966307delG	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1775delC	6.37:g.55966307delG	ENSP00000244728:p.Pro592fs					COL21A1_ENST00000370819.1_Frame_Shift_Del_p.P589fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.P592fs	p.P592fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		17	2172	-	Lung NSC(77;0.0483)		592			Collagen-like 2.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	ENST00000244728.5	37	c.1775delC	CCDS55025.1																																																																																				0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			2	4						2	4	---	---	---	---	-	55966307	G	-	55966307	7	5	91	1	0	1	0	1	0	0	0	0	3680	1000	35	0	1154	0	COL21A1	6	55966307	Frame_Shift_Del	DEL	G	TCGA-S7-A7WL-01A-11D-A35I-08		55966307	115148760	5	1710										
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctttcacagttaggtccaGcataattttcgttacaaatg	6	9	1	0			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(484-486)gCt>gTt		laminin, alpha 4							282	295	291					6																	112522827		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112522827G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.485C>T	6.37:g.112522827G>A	ENSP00000230538:p.Ala162Val					LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V	p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	5	882	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	162			Laminin EGF-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.485C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548413	0.65311	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588;ENST00000368639	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.07	5.2	0.72013	EGF-like, laminin (4);	0.052287	0.85682	N	0.000000	T	0.26340	0.0643	L	0.28115	0.83	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19582	-1.0301	10	0.05833	T	0.94	.	14.1512	0.65387	0.07:0.0:0.93:0.0	.	162;162	Q16363;Q16363-2	LAMA4_HUMAN;.	V	162	ENSP00000230538:A162V;ENSP00000429488:A162V;ENSP00000374114:A162V;ENSP00000416470:A162V;ENSP00000430336:A162V	ENSP00000230538:A162V	A	-	2	0	LAMA4	112629520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.525000	0.67110	1.547000	0.49401	0.655000	0.94253	GCT		0.388	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		4	243	0	0	0	1	0	4	243					A	112522827	G	A	112522827	3	1	91	1	0	0	0	0	1	0	0	0	8608	971	34	3	5126	3	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08	56556520	112522827	58592240	6	1711										
ACAT2	39	broad.mit.edu	37	chr6	160184039	160184039	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgaagagggccactgtggcTccggaagatgtgtctgaggt	16	7	1	4			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr6:160184039T>G	ENST00000367048.4	+	2	1904	c.144T>G	c.(142-144)gcT>gcG	p.A48A	SOD2_ENST00000535372.1_5'Flank|ACAT2_ENST00000541436.1_Silent_p.A77A|SOD2_ENST00000546087.1_5'Flank	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	48					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCACTGTGGCTCCGGAAGATG	0.488																																						ENST00000367048.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(142-144)gcT>gcG		acetyl-CoA acetyltransferase 2							161	155	157					6																	160184039		2203	4300	6503	SO:0001819	synonymous_variant	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160184039T>G	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	100678	"acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)", "acetyl-Coenzyme A acetyltransferase 2"			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.144T>G	6.37:g.160184039T>G						ACAT2_ENST00000541436.1_Silent_p.A77A	p.A48A	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	2	1904	+		Breast(66;0.000776)|Ovarian(120;0.0303)	48					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Silent	SNP	ENST00000367048.4	37	c.144T>G	CCDS5268.1																																																																																				0.488	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		13	78	0	0	0	1	0	13	78					G	160184039	T	G	160184039	2	3	91	1	0	0	0	0	0	0	0	1	122	1538	54	5		5	ACAT2	6	160184039	Silent	SNP	T	TCGA-S7-A7WL-01A-11D-A35I-08	47661212	160184039	10931028	7	1712										
EPO	2056	broad.mit.edu	37	chr7	100320669	100320669	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	acaatcactgctgacactttCcgcaaactcttccgagtcta	5	14	3	1			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr7:100320669C>T	ENST00000252723.2	+	5	676	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	165					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGACACTTTCCGCAAACTCT	0.567																																						ENST00000252723.2																			0				central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12						c.(493-495)ttC>ttT		erythropoietin	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						129	131	131					7																	100320669		2203	4300	6503	SO:0001819	synonymous_variant	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320669C>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"Endogenous ligands"	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.495C>T	7.37:g.100320669C>T							p.F165F	NM_000799.2	NP_000790.2	P01588	EPO_HUMAN			5	676	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		165					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Silent	SNP	ENST00000252723.2	37	c.495C>T	CCDS5705.1																																																																																				0.567	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		86	45	0	0	0	1	0	86	45					T	100320669	C	T	100320669	2	4	91	1	0	0	0	0	0	0	0	1	5188	854	30	3		3	EPO	7	100320669	Silent	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		100320669	58817994	8	1713										
ZNF510	22869	broad.mit.edu	37	chr9	99521448	99521448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gttgaatgagatgatcttttCgccagaaggatttttcacat	9	6	2	4	rs143262029		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr9:99521448C>T	ENST00000375231.1	-	6	2314	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATGATCTTTTCGCCAGAAGGA	0.413																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1663-1665)cGa>cAa		zinc finger protein 510		C	GLN/ARG	0,4406		0,0,2203	108	109	108		1664	1.1	0.4	9	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF510	NM_014930.1	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	555/684	99521448	1,13003	2203	4299	6502	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521448C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1664G>A	9.37:g.99521448C>T	ENSP00000364379:p.Arg555Gln					ZNF510_ENST00000223428.4_Missense_Mutation_p.R555Q	p.R555Q			Q9Y2H8	ZN510_HUMAN			6	2314	-		Acute lymphoblastic leukemia(62;0.0527)	555					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.1664G>A	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	5.640	0.302822	0.10678	0.0	1.16E-4	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.07444	3.19;3.19	3.02	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.28014	0.82	0.09310	N	1	B	0.30281	0.275	B	0.12156	0.007	T	0.38845	-0.9642	9	0.02654	T	1	.	2.635	0.04955	0.2308:0.5178:0.0:0.2514	.	555	Q9Y2H8	ZN510_HUMAN	Q	555	ENSP00000364379:R555Q;ENSP00000223428:R555Q	ENSP00000223428:R555Q	R	-	2	0	ZNF510	98561269	0.000000	0.05858	0.383000	0.26132	0.984000	0.73092	-2.011000	0.01452	0.299000	0.22661	0.655000	0.94253	CGA		0.413	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		20	77	0	0	0	1	0	20	77					T	99521448	C	T	99521448	3	4	91	1	0	0	0	0	1	0	0	0	17951	884	31	2	391	2	ZNF510	9	99521448	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		99521448	41691983	9	1714										
PLCB3	5331	broad.mit.edu	37	chr11	64033973	64033980	+	Frame_Shift_Del	DEL	GACGGAGA	GACGGAGA	-													0	0	1	0	0	0	1	1	0	ttgctcccgtgcagggaactGacggagattaaccgtcggca					rs575846795|rs375461230		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr11:64033973_64033980delGACGGAGA	ENST00000540288.1	+	29	3466_3473	c.3363_3370delGACGGAGA	c.(3361-3372)ctgacggagattfs	p.TEI1122fs	PLCB3_ENST00000325234.5_Frame_Shift_Del_p.TEI1055fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.TEI1122fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCAGGGAACTGACGGAGATTAACCGTCG	0.644																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3361-3372)ctttfs		phospholipase C, beta 3 (phosphatidylinositol-specific)																																				SO:0001589	frameshift_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033973_64033980delGACGGAGA	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3363_3370delGACGGAGA	11.37:g.64033973_64033980delGACGGAGA	ENSP00000443631:p.Thr1122fs					PLCB3_ENST00000325234.5_Frame_Shift_Del_p.LTEI1054fs|PLCB3_ENST00000279230.6_Frame_Shift_Del_p.LTEI1121fs	p.LTEI1121fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			29	3466_3473	+			1121					A5PKZ6|G5E960|Q8N1A4	Frame_Shift_Del	DEL	ENST00000540288.1	37	c.3363_3370delGACGGAGA	CCDS8064.1																																																																																				0.644	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			13	27						13	27	---	---	---	---	-	64033980	GACGGAGA	-	64033973	7	5	91	1	0	1	0	1	0	0	0	0	12029	1277	45	0	3477	0	PLCB3	11	64033973	Frame_Shift_Del	DEL	GACGGAGA	TCGA-S7-A7WL-01A-11D-A35I-08		64033973	70972543	10	1715										
EHBP1L1	254102	broad.mit.edu	37	chr11	65352540	65352540	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	atgacgtacctgtgccagatCcgcgccttctgcaccgggca							TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr11:65352540delC	ENST00000309295.4	+	12	3676	c.3411delC	c.(3409-3411)atcfs	p.I1137fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1137	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGTGCCAGATCCGCGCCTTCT	0.716																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3409-3411)atfs		EH domain binding protein 1-like 1							10	11	11					11																	65352540		2003	4094	6097	SO:0001589	frameshift_variant	254102							g.chr11:65352540delC	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3411delC	11.37:g.65352540delC	ENSP00000312671:p.Ile1137fs						p.I1137fs	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			12	3676	+			1137			CH.		Q8TB89|Q9H7M7	Frame_Shift_Del	DEL	ENST00000309295.4	37	c.3411delC	CCDS44649.1																																																																																				0.716	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		2	4						2	4	---	---	---	---	-	65352540	C	-	65352540	7	5	91	1	0	1	0	1	0	0	0	0	4976	845	30	0	3457	0	EHBP1L1	11	65352540	Frame_Shift_Del	DEL	C	TCGA-S7-A7WL-01A-11D-A35I-08	1318567	65352540	69653976	11	1716										
ATF1	466	broad.mit.edu	37	chr12	51213461	51213461	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaagaagaaagaatatgtgAaatgcctggaaaaccgagtt	11	4	0	4			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr12:51213461A>C	ENST00000262053.3	+	7	737	c.715A>C	c.(715-717)Aaa>Caa	p.K239Q	ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	239	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AGAATATGTGAAATGCCTGGA	0.313			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"E, M"	"EWSR1, FUS"		"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(715-717)Aaa>Caa		activating transcription factor 1							47	50	49					12																	51213461		2203	4299	6502	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor 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			g.chr12:51213461A>C	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"basic leucine zipper proteins"	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.715A>C	12.37:g.51213461A>C	ENSP00000262053:p.Lys239Gln					ATF1_ENST00000539132.1_Missense_Mutation_p.K104Q	p.K239Q	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			7	737	+			239					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.715A>C	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351688	0.82132	.	.	ENSG00000123268	ENST00000262053;ENST00000539132	T;T	0.56776	0.44;0.44	5.48	5.48	0.80851	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.042109	0.85682	D	0.000000	T	0.67951	0.2948	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70890	-0.4749	10	0.87932	D	0	0.857	15.8733	0.79141	1.0:0.0:0.0:0.0	.	239	P18846	ATF1_HUMAN	Q	239;104	ENSP00000262053:K239Q;ENSP00000438403:K104Q	ENSP00000262053:K239Q	K	+	1	0	ATF1	49499728	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.026000	0.93700	2.204000	0.70986	0.523000	0.50628	AAA		0.313	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		18	29	0	0	0	1	0	18	29					C	51213461	A	C	51213461	3	2	91	1	0	0	0	0	1	0	0	0	1079	247	9	5	737	5	ATF1	12	51213461	Missense_Mutation	SNP	A	TCGA-S7-A7WL-01A-11D-A35I-08		51213461	82638434	12	1717										
REM2	161253	broad.mit.edu	37	chr14	23354529	23354529	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	ggaggaagtgactctagtcgTttatgacatctgggaacagg							TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr14:23354529delT	ENST00000267396.4	+	3	623	c.500delT	c.(499-501)gttfs	p.V167fs	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	167					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		ACTCTAGTCGTTTATGACATC	0.507																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(499-501)gtfs		RAS (RAD and GEM)-like GTP binding 2							149	138	142					14																	23354529		2000	4182	6182	SO:0001589	frameshift_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354529delT		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.500delT	14.37:g.23354529delT	ENSP00000267396:p.Val167fs					REM2_ENST00000536884.1_Intron	p.V167fs	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	3	623	+	all_cancers(95;4.69e-05)		167					B7Z5P1|Q8N8R8	Frame_Shift_Del	DEL	ENST00000267396.4	37	c.500delT	CCDS45082.1																																																																																				0.507	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		19	45						19	45	---	---	---	---	-	23354529	T	-	23354529	7	5	91	1	0	1	0	1	0	0	0	0	13223	1725	60	0	510	0	REM2	14	23354529	Frame_Shift_Del	DEL	T	TCGA-S7-A7WL-01A-11D-A35I-08		23354529	83995011	13	1718										
RBM23	55147	broad.mit.edu	37	chr14	23371511	23371511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagtcgctcagtcacatgGccaaccctcataggtcgacc	8	16	3	0			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr14:23371511G>A	ENST00000359890.3	-	11	1206	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000555209.1_Silent_p.G87G|RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000346528.5_Silent_p.G303G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	337	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CAGTCACATGGCCAACCCTCA	0.552																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(1009-1011)ggC>ggT		RNA binding motif protein 23							72	71	71					14																	23371511		2014	4200	6214	SO:0001819	synonymous_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371511G>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"RNA binding motif (RRM) containing"	20155	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen recep- tors beta"		"RNA-binding region (RNP1, RRM) containing 4"	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1011C>T	14.37:g.23371511G>A						RBM23_ENST00000542016.2_Silent_p.G167G|RBM23_ENST00000399922.2_Silent_p.G321G|RBM23_ENST00000346528.5_Silent_p.G303G|RBM23_ENST00000555209.1_Silent_p.G87G	p.G337G	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	11	1206	-	all_cancers(95;4.69e-05)		337			RRM 2.		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Silent	SNP	ENST00000359890.3	37	c.1011C>T	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	G	0.290	-0.980888	0.02197	.	.	ENSG00000100461	ENST00000553884	.	.	.	4.82	0.903	0.19296	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24548	-1.0157	4	.	.	.	-9.4112	1.3522	0.02175	0.3339:0.1362:0.3903:0.1396	.	.	.	.	S	112	.	.	P	-	1	0	RBM23	22441351	0.027000	0.19231	0.997000	0.53966	0.136000	0.21042	-0.969000	0.03813	0.267000	0.21916	-0.251000	0.11542	CCA		0.552	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			3	38	0	0	0	1	0	3	38					A	23371511	G	A	23371511	2	1	91	1	0	0	0	0	0	0	0	1	13123	1190	42	3		3	RBM23	14	23371511	Silent	SNP	G	TCGA-S7-A7WL-01A-11D-A35I-08	16982	23371511	83978029	14	1719										
MAP1A	4130	broad.mit.edu	37	chr15	43820463	43820463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctcctcctctgaggctacCacgcctgtgatttcaagtgt	10	13	2	2			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr15:43820463C>T	ENST00000300231.5	+	4	7242	c.6792C>T	c.(6790-6792)acC>acT	p.T2264T	MAP1A_ENST00000382031.1_Silent_p.T2502T|MAP1A_ENST00000399453.1_Silent_p.T2264T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2264					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGAGGCTACCACGCCTGTGA	0.622																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7504-7506)acC>acT		microtubule-associated protein 1A	Estramustine(DB01196)						63	68	66					15																	43820463		1967	4151	6118	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820463C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6792C>T	15.37:g.43820463C>T						MAP1A_ENST00000399453.1_Silent_p.T2264T|MAP1A_ENST00000300231.5_Silent_p.T2264T	p.T2502T			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7537	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2264					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7506C>T	CCDS42031.1																																																																																				0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		42	38	0	0	0	1	0	42	38					T	43820463	C	T	43820463	2	4	91	1	0	0	0	0	0	0	0	1	9227	581	21	3		3	MAP1A	15	43820463	Silent	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		43820463	58710929	15	1720										
KIAA0556	23247	broad.mit.edu	37	chr16	27751697	27751697	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaggaaagacagtttgtcCcagttagaggaatatttgag	12	5	0	3			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:27751697C>A	ENST00000261588.4	+	15	2098	c.2079C>A	c.(2077-2079)tcC>tcA	p.S693S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	693						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACAGTTTGTCCCAGTTAGAGG	0.498																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2077-2079)tcC>tcA		KIAA0556							73	75	75					16																	27751697		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751697C>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2079C>A	16.37:g.27751697C>A							p.S693S	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			15	2098	+			693					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.2079C>A	CCDS32415.1																																																																																				0.498	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		4	96	1	0	1.23904e-05	1	1.28034e-05	4	96					A	27751697	C	A	27751697	2	1	91	1	0	0	0	0	0	0	0	1	8183	610	22	5		5	KIAA0556	16	27751697	Silent	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		27751697	62603056	16	1721										
CHST5	23563	broad.mit.edu	37	chr16	75563184	75563184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccggcgcacacctcctgcaCgcgcaggatcttagtgaagg	13	14	1	1			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr16:75563184C>T	ENST00000336257.3	-	3	2493	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	CHST5_ENST00000541075.1_Missense_Mutation_p.V373M|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	367					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCTCCTGCACGCGCAGGATC	0.652																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(1099-1101)Gtg>Atg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							57	48	51					16																	75563184		2198	4298	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563184C>T	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1099G>A	16.37:g.75563184C>T	ENSP00000338783:p.Val367Met					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.V373M	p.V367M	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2493	-			367					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.1099G>A	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123493	0.20959	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.24151	1.87;1.87	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.139230	0.43747	D	0.000536	T	0.45895	0.1365	M	0.84082	2.675	0.27750	N	0.944177	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.971	T	0.33059	-0.9883	10	0.72032	D	0.01	.	4.8201	0.13387	0.0:0.7273:0.0:0.2727	.	373;367	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	M	367;373	ENSP00000338783:V367M;ENSP00000441220:V373M	ENSP00000338783:V367M	V	-	1	0	CHST5	74120685	0.505000	0.26131	0.998000	0.56505	0.010000	0.07245	0.930000	0.28858	1.583000	0.49898	0.313000	0.20887	GTG		0.652	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		13	23	0	0	0	1	0	13	23					T	75563184	C	T	75563184	3	4	91	1	0	0	0	0	1	0	0	0	3407	536	19	1	140	1	CHST5	16	75563184	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08	47811487	75563184	14791569	17	1722										
NF1	4763	broad.mit.edu	37	chr17	29533281	29533293	+	Frame_Shift_Del	DEL	GATTGATGCTGTG	GATTGATGCTGTG	-													0	0	1	0	0	0	1	1	0	gcattggattggtggcctaaGattgatgctgtgtattgtca					rs371599283		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr17:29533281_29533293delGATTGATGCTGTG	ENST00000358273.4	+	12	1667_1679	c.1284_1296delGATTGATGCTGTG	c.(1282-1296)aagattgatgctgtgfs	p.KIDAV428fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	428					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTGGCCTAAGATTGATGCTGTGTATTGTCACT	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1282-1296)aafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29533281_29533293delGATTGATGCTGTG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1284_1296delGATTGATGCTGTG	17.37:g.29533281_29533293delGATTGATGCTGTG	ENSP00000351015:p.Lys428fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Frame_Shift_Del_p.KIDAV428fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.KIDAV428fs	p.KIDAV428fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	12	1667_1679	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	428					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1284_1296delGATTGATGCTGTG	CCDS42292.1																																																																																				0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	10						18	10	---	---	---	---	-	29533293	GATTGATGCTGTG	-	29533281	7	5	91	1	0	1	0	1	0	0	0	0	10356	933	33	0	1330	0	NF1	17	29533281	Frame_Shift_Del	DEL	GATTGATGCTGTG	TCGA-S7-A7WL-01A-11D-A35I-08		29533281	51661929	18	1723										
APC2	10297	broad.mit.edu	37	chr19	1465635	1465637	+	In_Frame_Del	DEL	GAC	GAC	-													0	0	1	0	0	0	1	1	0	cttccgattcgggctgctttGacgacgacgatgcaccgtca							TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr19:1465635_1465637delGAC	ENST00000535453.1	+	14	4048_4050	c.2335_2337delGAC	c.(2335-2337)gacdel	p.D782del	APC2_ENST00000238483.4_In_Frame_Del_p.D508del|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_In_Frame_Del_p.D782del|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTGCTTTGACGACGACGATG	0.719																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(2335-2337)del		adenomatosis polyposis coli 2																																				SO:0001651	inframe_deletion	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465635_1465637delGAC		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.2335_2337delGAC	19.37:g.1465641_1465643delGAC	ENSP00000442954:p.Asp782del					APC2_ENST00000238483.4_In_Frame_Del_p.D508del|APC2_ENST00000233607.2_In_Frame_Del_p.D782del|C19orf25_ENST00000588427.1_Intron	p.D782del			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	4048_4050	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	782					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	In_Frame_Del	DEL	ENST00000535453.1	37	c.2335_2337delGAC	CCDS12068.1																																																																																				0.719	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		2	4						2	4	---	---	---	---	-	1465637	GAC	-	1465635	7	5	91	1	0	1	0	1	0	0	0	0	764	1290	45	0	2389	0	APC2	19	1465635	In_Frame_Del	DEL	GAC	TCGA-S7-A7WL-01A-11D-A35I-08		1465635	57663348	19	1724										
ANKRD27	84079	broad.mit.edu	37	chr19	33116849	33116849	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ttgtcctgcacttccgcgctGgccttgtagtgcagcagcag					rs35109898	byFrequency	TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr19:33116849delG	ENST00000306065.4	-	17	1718	c.1560delC	c.(1558-1560)gccfs	p.A520fs		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	520					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTCCGCGCTGGCCTTGTAGT	0.647																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1558-1560)gcfs		ankyrin repeat domain 27 (VPS9 domain)							93	65	74					19																	33116849		2203	4300	6503	SO:0001589	frameshift_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33116849delG	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1560delC	19.37:g.33116849delG	ENSP00000304292:p.Ala520fs						p.A520fs	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			17	1718	-	Esophageal squamous(110;0.137)		520					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Frame_Shift_Del	DEL	ENST00000306065.4	37	c.1560delC	CCDS32986.1																																																																																				0.647	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		2	4						2	4	---	---	---	---	-	33116849	G	-	33116849	7	5	91	1	0	1	0	1	0	0	0	0	655	1335	47	0	1644	0	ANKRD27	19	33116849	Frame_Shift_Del	DEL	G	TCGA-S7-A7WL-01A-11D-A35I-08	31651214	33116849	26012134	20	1725										
RBL1	5933	broad.mit.edu	37	chr20	35632208	35632208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagtgctgctgggaaatgCggcgtggtgagcctggctgt	19	7	0	1	rs192996186		TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chr20:35632208C>T	ENST00000373664.3	-	21	2999	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	RBL1_ENST00000344359.3_Missense_Mutation_p.R978H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	978					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGGGAAATGCGGCGTGGTGA	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		15497	0		0	False		,,,				2504	0					ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2932-2934)cGc>cAc		retinoblastoma-like 1 (p107)							127	115	119					20																	35632208		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35632208C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2933G>A	20.37:g.35632208C>T	ENSP00000362768:p.Arg978His					RBL1_ENST00000344359.3_Missense_Mutation_p.R978H	p.R978H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			21	2999	-		Myeloproliferative disorder(115;0.00878)	978					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2933G>A	CCDS13289.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.182230	0.94885	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.59772	0.24;0.24	5.04	5.04	0.67666	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82159	-0.0595	10	0.87932	D	0	-7.9578	18.5888	0.91200	0.0:1.0:0.0:0.0	.	978;978	P28749-2;P28749	.;RBL1_HUMAN	H	978	ENSP00000362768:R978H;ENSP00000343646:R978H	ENSP00000343646:R978H	R	-	2	0	RBL1	35065622	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.594000	0.74104	2.632000	0.89209	0.650000	0.86243	CGC		0.453	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		3	47	0	0	0	1	0	3	47					T	35632208	C	T	35632208	3	4	91	1	0	0	0	0	1	0	0	0	13109	768	27	1	290	1	RBL1	20	35632208	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		35632208	27393312	21	1726										
MECP2	4204	broad.mit.edu	37	chrX	153296731	153296731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gtccccggcctctgccagttCctggagctttgggagatttg	13	12	1	1			TCGA-S7-A7WL-01A-11D-A35I-08	TCGA-S7-A7WL-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	819a5f3c-350e-48ac-a62f-e9ad1b305b51	84a2d7bd-0255-46bc-85d1-cfb47d4e0b0d	g.chrX:153296731C>T	ENST00000303391.6	-	4	797	c.548G>A	c.(547-549)gGa>gAa	p.G183E	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Missense_Mutation_p.E147K|MECP2_ENST00000453960.2_Missense_Mutation_p.G195E	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	183					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCCAGTTCCTGGAGCTTT	0.597																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(547-549)gGa>gAa		methyl CpG binding protein 2 (Rett syndrome)							71	74	73					X																	153296731		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296731C>T	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.548G>A	X.37:g.153296731C>T	ENSP00000301948:p.Gly183Glu					MECP2_ENST00000453960.2_Missense_Mutation_p.G195E|MECP2_ENST00000407218.1_Missense_Mutation_p.E147K	p.G183E	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	797	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		183					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.548G>A	CCDS14741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.896473|2.896473	0.52121|0.52121	.|.	.|.	ENSG00000169057|ENSG00000169057	ENST00000407218|ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D|D;D	0.96491|0.96168	-4.03|-3.93;-3.93	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.94618|0.94618	0.8265|0.8265	N|N	0.24115|0.24115	0.695|0.695	0.31004|0.31004	N|N	0.71996|0.71996	.|D;P	.|0.53745	.|0.962;0.937	.|P;P	.|0.56278	.|0.795;0.629	D|D	0.93486|0.93486	0.6831|0.6831	7|10	0.72032|0.45353	D|T	0.01|0.12	-9.7616|-9.7616	17.0301|17.0301	0.86458|0.86458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|195;183	.|P51608-2;P51608	.|.;MECP2_HUMAN	K|E	147|183;183;195;183	ENSP00000384865:E147K|ENSP00000301948:G183E;ENSP00000395535:G195E	ENSP00000384865:E147K|ENSP00000301948:G183E	E|G	-|-	1|2	0|0	MECP2|MECP2	152949925|152949925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.643000|3.643000	0.54374|0.54374	2.285000|2.285000	0.76669|0.76669	0.600000|0.600000	0.82982|0.82982	GAA|GGA		0.597	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		10	45	0	0	0	1	0	10	45					T	153296731	C	T	153296731	3	4	91	1	0	0	0	0	1	0	0	0	9423	855	30	3	916	3	MECP2	23	153296731	Missense_Mutation	SNP	C	TCGA-S7-A7WL-01A-11D-A35I-08		153296731	1973829	22	1727										
CNTN2	6900	broad.mit.edu	37	chr1	205031578	205031578	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttctgcacagaaccgggtggAggtgttggctggggacctgc	17	9	1	1			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:205031578A>T	ENST00000331830.4	+	10	1405	c.1121A>T	c.(1120-1122)gAg>gTg	p.E374V	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	374	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACCGGGTGGAGGTGTTGGCT	0.622																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1120-1122)gAg>gTg		contactin 2 (axonal)							84	76	79					1																	205031578		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205031578A>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1121A>T	1.37:g.205031578A>T	ENSP00000330633:p.Glu374Val						p.E374V	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		10	1405	+	all_cancers(21;0.144)|Breast(84;0.0437)		374			Ig-like C2-type 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1121A>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846782	0.91277	.	.	ENSG00000184144	ENST00000331830	T	0.67698	-0.28	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000098	T	0.61160	0.2325	N	0.16233	0.39	0.80722	D	1	P;P	0.44241	0.478;0.829	B;P	0.50378	0.444;0.639	T	0.60642	-0.7223	10	0.29301	T	0.29	.	15.2611	0.73625	1.0:0.0:0.0:0.0	.	374;265	Q02246;Q68DA2	CNTN2_HUMAN;.	V	374	ENSP00000330633:E374V	ENSP00000330633:E374V	E	+	2	0	CNTN2	203298201	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.787000	0.75099	2.091000	0.63221	0.528000	0.53228	GAG		0.622	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		19	36	0	0	0	1	0	19	36					T	205031578	A	T	205031578	3	4	92	1	0	0	0	0	1	0	0	0	3641	304	11	5	1155	5	CNTN2	1	205031578	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		205031578	44219043	1	1728										
AHCTF1	25909	broad.mit.edu	37	chr1	247014132	247014132	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcaacctggctgacattcaTagtcattgtgcttgtttcct	7	10	3	1			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr1:247014132T>C	ENST00000391829.2	-	33	5299	c.5176A>G	c.(5176-5178)Atg>Gtg	p.M1726V	AHCTF1_ENST00000366508.1_Missense_Mutation_p.M1761V|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1726	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGACATTCATAGTCATTGTG	0.413																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5281-5283)Atg>Gtg		AT hook containing transcription factor 1							70	69	69					1																	247014132		2203	4298	6501	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014132T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5176A>G	1.37:g.247014132T>C	ENSP00000375705:p.Met1726Val					AHCTF1_ENST00000391829.2_Missense_Mutation_p.M1726V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.M1735V	p.M1761V			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5417	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1726			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5281A>G		.	.	.	.	.	.	.	.	.	.	T	0	-2.727340	0.00091	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.23147	1.92;1.93;1.93	5.69	-5.59	0.02505	.	0.871026	0.10224	N	0.700501	T	0.05731	0.0150	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36040	-0.9764	10	0.10636	T	0.68	-0.6399	2.2187	0.03967	0.266:0.3647:0.0938:0.2754	.	587;1761;1726	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	V	1761;1735;1726	ENSP00000355464:M1761V;ENSP00000355465:M1735V;ENSP00000375705:M1726V	ENSP00000355465:M1735V	M	-	1	0	AHCTF1	245080755	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-2.006000	0.01459	-0.704000	0.05042	-0.530000	0.04314	ATG		0.413	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		18	43	0	0	0	1	0	18	43					C	247014132	T	C	247014132	3	2	92	1	0	0	0	0	1	0	0	0	408	1406	49	4	1640	4	AHCTF1	1	247014132	Missense_Mutation	SNP	T	TCGA-S7-A7WM-01A-12D-A35I-08	41982554	247014132	2236489	2	1729										
AFTPH	54812	broad.mit.edu	37	chr2	64800181	64800181	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgtcaccagatatgaacacAtgtacatctgatcagttcca	6	10	3	3			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr2:64800181A>G	ENST00000422803.1	+	6	2687	c.2373A>G	c.(2371-2373)acA>acG	p.T791T	AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238856.4_Silent_p.T791T|AFTPH_ENST00000238855.7_Silent_p.T791T|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	791					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATATGAACACATGTACATCTG	0.388																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2371-2373)acA>acG		aftiphilin							157	156	156					2																	64800181		2203	4300	6503	SO:0001819	synonymous_variant	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64800181A>G	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2373A>G	2.37:g.64800181A>G						AFTPH_ENST00000409183.1_Silent_p.T422T|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Silent_p.T791T|AFTPH_ENST00000238856.4_Silent_p.T791T|AFTPH_ENST00000238855.7_Silent_p.T791T	p.T791T			Q6ULP2	AFTIN_HUMAN			6	2687	+			791					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	ENST00000422803.1	37	c.2373A>G																																																																																					0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		51	68	0	0	0	1	0	51	68					G	64800181	A	G	64800181	2	3	92	1	0	0	0	0	0	0	0	1	364	204	8	4		4	AFTPH	2	64800181	Silent	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		64800181	178399192	3	1730										
TTN	7273	broad.mit.edu	37	chr2	179611732	179611732	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tttctatttttgatggatatGttttaaaagtaccagtgggg	10	3	1	1			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr2:179611732G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T5132I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGATATGTTTTAAAAGT	0.453																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15394-15396)aCa>aTa		titin							103	104	104					2																	179611732		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611732G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5084C>T	2.37:g.179611732G>A						TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T5132I	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15617	-			1238					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15395C>T		.	.	.	.	.	.	.	.	.	.	G	3.350	-0.132718	0.06711	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.56941	0.43	5.83	-11.7	0.00046	.	.	.	.	.	T	0.25195	0.0612	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30357	-0.9981	9	0.62326	D	0.03	.	4.7504	0.13057	0.1075:0.4566:0.2688:0.1671	.	5132	Q8WZ42-6	.	I	5132;413	ENSP00000354117:T5132I	ENSP00000304714:T413I	T	-	2	0	TTN	179319977	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.649000	0.00858	-1.486000	0.01851	-0.961000	0.02630	ACA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	82	0	0	0	1	0	11	82					A	179611732	G	A	179611732	1	1	92	0	1	0	0	0	0	0	0	0	16732	1377	48	3		3	TTN	2	179611732	Intron	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08	114811551	179611732	63587641	4	1731										
BOD1L	259282	broad.mit.edu	37	chr4	13600882	13600882	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcaggaagaaaggaatgctCagccacggtcccttgaacag	12	10	1	2			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr4:13600882C>A	ENST00000040738.5	-	10	7777	c.7642G>T	c.(7642-7644)Gag>Tag	p.E2548*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2548						nucleus (GO:0005634)	DNA binding (GO:0003677)										AAGGAATGCTCAGCCACGGTC	0.483											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7642-7644)Gag>Tag		biorientation of chromosomes in cell division 1-like 1							86	74	78					4																	13600882		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13600882C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7642G>T	4.37:g.13600882C>A	ENSP00000040738:p.Glu2548*		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.E2548*	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7777	-			2548					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.7642G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	47	13.827079	0.99765	.	.	ENSG00000038219	ENST00000040738	.	.	.	4.57	3.72	0.42706	.	0.494861	0.18336	N	0.144337	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.7067	0.51601	0.0:0.8209:0.1791:0.0	.	.	.	.	X	2548	.	ENSP00000040738:E2548X	E	-	1	0	BOD1L	13209980	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.298000	0.19120	0.915000	0.36847	0.555000	0.69702	GAG		0.483	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		6	7	1	0	0.0381472	1	0.0381472	6	7					A	13600882	C	A	13600882	4	1	92	1	0	0	0	0	0	1	0	0	1483	835	29	5	1581	5	BOD1L	4	13600882	Nonsense_Mutation	SNP	C	TCGA-S7-A7WM-01A-12D-A35I-08		13600882	177553394	5	1732										
SDHA	6389	broad.mit.edu	37	chr5	256498	256498	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caaaactttgaacgaggctgActgtgccaccgtcccgccag	10	14	0	2			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr5:256498A>C	ENST00000264932.6	+	15	2073	c.1958A>C	c.(1957-1959)gAc>gCc	p.D653A	SDHA_ENST00000504309.1_Missense_Mutation_p.D572A|SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.D605A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	653					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACGAGGCTGACTGTGCCACC	0.433									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1957-1959)gAc>gCc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						76	85	82					5																	256498		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:256498A>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1958A>C	5.37:g.256498A>C	ENSP00000264932:p.Asp653Ala					SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.D572A|SDHA_ENST00000510361.1_Missense_Mutation_p.D605A	p.D653A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		15	2073	+			653					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1958A>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	12.43	1.934307	0.34096	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72394	-0.65;0.08;-0.65	4.12	4.12	0.48240	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.129312	0.49916	U	0.000131	T	0.71584	0.3357	M	0.79926	2.475	0.58432	D	0.999997	B;P;B;B	0.40197	0.417;0.706;0.297;0.044	B;B;B;B	0.39935	0.314;0.261;0.099;0.046	T	0.76391	-0.2976	10	0.87932	D	0	.	11.0821	0.48066	1.0:0.0:0.0:0.0	.	605;247;572;653	E9PBJ5;B3KYA5;D6RFM5;P31040	.;.;.;DHSA_HUMAN	A	653;508;572;605	ENSP00000264932:D653A;ENSP00000426514:D572A;ENSP00000427703:D605A	ENSP00000264932:D653A	D	+	2	0	SDHA	309498	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	6.351000	0.73022	1.517000	0.48917	0.254000	0.18369	GAC		0.433	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	62	0	0	0	1	0	4	62					C	256498	A	C	256498	3	2	92	1	0	0	0	0	1	0	0	0	13963	275	10	5	2016	5	SDHA	5	256498	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		256498	180658762	6	1733										
SERPINB9	5272	broad.mit.edu	37	chr6	2893754	2893754	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagcctggtttctgcatcaAttgagctacccggcaacaac	8	14	2	1	rs144457124	byFrequency	TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr6:2893754A>G	ENST00000380698.4	-	5	547	c.458T>C	c.(457-459)aTt>aCt	p.I153T		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	153					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTCTGCATCAATTGAGCTACC	0.398													A|||	4	0.000798722	0.0015	0.0014	5008	,	,		15586	0		0	False		,,,				2504	0.001					ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(457-459)aTt>aCt		serpin peptidase inhibitor, clade B (ovalbumin), member 9		A	THR/ILE	5,4401	9.9+/-24.2	0,5,2198	127	123	124		458	4.2	0	6	dbSNP_134	124	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SERPINB9	NM_004155.4	89	0,8,6495	GG,GA,AA		0.0349,0.1135,0.0615	possibly-damaging	153/377	2893754	8,12998	2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2893754A>G	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.458T>C	6.37:g.2893754A>G	ENSP00000370074:p.Ile153Thr						p.I153T	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			5	547	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	153					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.458T>C	CCDS4478.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	18.28	3.588696	0.66105	0.001135	3.49E-4	ENSG00000170542	ENST00000380698	D	0.86030	-2.06	4.21	4.21	0.49690	Serpin domain (3);	0.359235	0.33217	N	0.005153	D	0.86732	0.6003	M	0.84156	2.68	0.20196	N	0.99992	P	0.41569	0.755	P	0.51453	0.67	T	0.81415	-0.0943	10	0.66056	D	0.02	.	13.4922	0.61402	1.0:0.0:0.0:0.0	.	153	P50453	SPB9_HUMAN	T	153	ENSP00000370074:I153T	ENSP00000370074:I153T	I	-	2	0	SERPINB9	2838753	0.846000	0.29590	0.005000	0.12908	0.004000	0.04260	6.942000	0.75928	2.123000	0.65237	0.533000	0.62120	ATT		0.398	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			30	55	0	0	0	1	0	30	55					G	2893754	A	G	2893754	3	3	92	1	0	0	0	0	1	0	0	0	14108	101	4	4	684	4	SERPINB9	6	2893754	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		2893754	168221313	7	1734										
ABCA13	154664	broad.mit.edu	37	chr7	48258974	48258974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtctaggttccaaactgcagCtgaccccaagaaagtcaaca	8	12	2	2			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr7:48258974C>T	ENST00000435803.1	+	4	335	c.311C>T	c.(310-312)gCt>gTt	p.A104V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	104					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAACTGCAGCTGACCCCAAG	0.353																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(310-312)gCt>gTt		ATP-binding cassette, sub-family A (ABC1), member 13							51	50	50					7																	48258974		1811	4079	5890	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48258974C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.311C>T	7.37:g.48258974C>T	ENSP00000411096:p.Ala104Val						p.A104V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			4	335	+			104					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.311C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980780	0.53827	.	.	ENSG00000179869	ENST00000435803	T	0.30448	1.53	5.58	-0.495	0.12030	.	0.948002	0.08702	N	0.906327	T	0.20333	0.0489	L	0.40543	1.245	0.09310	N	1	B;B	0.28850	0.144;0.225	B;B	0.30316	0.053;0.114	T	0.31806	-0.9930	10	0.37606	T	0.19	.	1.1013	0.01684	0.3659:0.3186:0.1385:0.177	.	104;104	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	V	104	ENSP00000411096:A104V	ENSP00000409268:A104V	A	+	2	0	ABCA13	48229520	0.000000	0.05858	0.001000	0.08648	0.452000	0.32318	0.024000	0.13555	0.080000	0.16959	0.655000	0.94253	GCT		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		13	24	0	0	0	1	0	13	24					T	48258974	C	T	48258974	3	4	92	1	0	0	0	0	1	0	0	0	31	797	28	3	154	3	ABCA13	7	48258974	Missense_Mutation	SNP	C	TCGA-S7-A7WM-01A-12D-A35I-08		48258974	110879689	8	1735										
FAM73B	84895	broad.mit.edu	37	chr9	131832580	131832580	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctggacaatgtgcgctacAcgtcactgcccgcgctggca	11	15	1	0			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr9:131832580A>C	ENST00000358369.4	+	16	1856	c.1630A>C	c.(1630-1632)Acg>Ccg	p.T544P	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	544					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGTGCGCTACACGTCACTGCC	0.672																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1630-1632)Acg>Ccg		family with sequence similarity 73, member B							69	53	58					9																	131832580		2203	4299	6502	SO:0001583	missense	84895					integral to membrane		g.chr9:131832580A>C	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1630A>C	9.37:g.131832580A>C	ENSP00000351138:p.Thr544Pro					FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	p.T544P	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			16	1856	+			544					Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	ENST00000358369.4	37	c.1630A>C	CCDS6917.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789553	0.70337	.	.	ENSG00000148343	ENST00000358369	T	0.25749	1.78	5.67	5.67	0.87782	.	0.153383	0.56097	D	0.000023	T	0.52805	0.1757	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.999;0.961	D;P	0.68483	0.958;0.864	T	0.58171	-0.7683	10	0.66056	D	0.02	.	15.0946	0.72223	1.0:0.0:0.0:0.0	.	120;544	Q96NP4;Q7L4E1	.;FA73B_HUMAN	P	544	ENSP00000351138:T544P	ENSP00000351138:T544P	T	+	1	0	FAM73B	130872401	1.000000	0.71417	0.997000	0.53966	0.743000	0.42351	5.739000	0.68622	2.155000	0.67459	0.533000	0.62120	ACG		0.672	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		14	26	0	0	0	1	0	14	26					C	131832580	A	C	131832580	3	2	92	1	0	0	0	0	1	0	0	0	5618	159	6	5	1688	5	FAM73B	9	131832580	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08		131832580	9380851	9	1736										
GNB3	2784	broad.mit.edu	37	chr12	6954872	6954872	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcatcatctgcggcatcacGtccgtggccttctccctcag	9	16	5	0			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr12:6954872G>T	ENST00000229264.3	+	10	1227	c.822G>T	c.(820-822)acG>acT	p.T274T	GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	274					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCGGCATCACGTCCGTGGCCT	0.592																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(820-822)acG>acT		guanine nucleotide binding protein (G protein), beta polypeptide 3							178	165	170					12																	6954872		2203	4300	6503	SO:0001819	synonymous_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954872G>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.822G>T	12.37:g.6954872G>T						CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Silent_p.T273T|CDCA3_ENST00000604599.1_5'UTR	p.T274T	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1227	+			274					Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	c.822G>T	CCDS8564.1																																																																																				0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		5	117	1	0	1.23904e-05	1	1.36947e-05	5	117					T	6954872	G	T	6954872	2	4	92	1	0	0	0	0	0	0	0	1	6519	1132	40	5		5	GNB3	12	6954872	Silent	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08		6954872	126897023	10	1737										
LRRIQ1	84125	broad.mit.edu	37	chr12	85450448	85450448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaattccaaagatgtaagagAaaacgtaatattacaagaaa	6	4	0	3			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr12:85450448A>G	ENST00000393217.2	+	8	1938	c.1877A>G	c.(1876-1878)gAa>gGa	p.E626G		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	626										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GATGTAAGAGAAAACGTAATA	0.289																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1876-1878)gAa>gGa		leucine-rich repeats and IQ motif containing 1							28	30	29					12																	85450448		2198	4292	6490	SO:0001583	missense	84125							g.chr12:85450448A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1877A>G	12.37:g.85450448A>G	ENSP00000376910:p.Glu626Gly						p.E626G	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1938	+			626					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1877A>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	9.681	1.149205	0.21288	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.52983	0.64	4.94	1.16	0.20824	.	1.152170	0.06532	N	0.741730	T	0.26376	0.0644	N	0.22421	0.69	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.30401	0.115;0.115	T	0.24297	-1.0164	10	0.41790	T	0.15	.	1.8679	0.03202	0.5525:0.1233:0.0954:0.2288	.	626;601	Q96JM4;C9JI57	LRIQ1_HUMAN;.	G	626;601;626	ENSP00000376910:E626G	ENSP00000256007:E626G	E	+	2	0	LRRIQ1	83974579	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.084000	0.11268	0.848000	0.35191	0.482000	0.46254	GAA		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	6	0	0	0	1	0	11	6					G	85450448	A	G	85450448	3	3	92	1	0	0	0	0	1	0	0	0	9029	246	9	4	1903	4	LRRIQ1	12	85450448	Missense_Mutation	SNP	A	TCGA-S7-A7WM-01A-12D-A35I-08	78495576	85450448	48401447	11	1738										
SEMA6D	80031	broad.mit.edu	37	chr15	48056089	48056089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatatgtaaaaacgacatgGgtggttcccagcgggtcctg	13	9	0	0			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr15:48056089G>A	ENST00000316364.5	+	10	1229	c.790G>A	c.(790-792)Ggt>Agt	p.G264S	SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	264	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAACGACATGGGTGGTTCCCA	0.488																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(790-792)Ggt>Agt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							154	146	149					15																	48056089		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056089G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.790G>A	15.37:g.48056089G>A	ENSP00000324857:p.Gly264Ser					SEMA6D_ENST00000354744.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G264S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G264S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G264S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G264S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G264S	p.G264S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	10	1229	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	264			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.790G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	37	6.008020	0.97195	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.90369	0.6986	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92761	0.6224	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	264;264;264;264;264	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	S	264	ENSP00000442040:G264S;ENSP00000446152:G264S;ENSP00000324857:G264S;ENSP00000374084:G264S;ENSP00000374083:G264S;ENSP00000346786:G264S;ENSP00000350770:G264S;ENSP00000374079:G264S;ENSP00000348276:G264S;ENSP00000374076:G264S	ENSP00000324857:G264S	G	+	1	0	SEMA6D	45843381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GGT		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		10	78	0	0	0	1	0	10	78					A	48056089	G	A	48056089	3	1	92	1	0	0	0	0	1	0	0	0	14042	1232	43	3	824	3	SEMA6D	15	48056089	Missense_Mutation	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08		48056089	54475303	12	1739										
NF1	4763	broad.mit.edu	37	chr17	29541548	29541549	+	Frame_Shift_Ins	INS	-	-	TT													0	0	1	0	NA	0	1	1	0	gagacaagaagctataagtaINStcttctcttgtccatggtga					rs199474757		TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr17:29541548_29541549insTT	ENST00000358273.4	+	13	1855_1856	c.1472_1473insTT	c.(1471-1476)tatcttfs	p.L492fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.L492fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.L492fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	492					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCTATAAGTATCTTCTCTTGT	0.297			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM000781	NF1	M		c.(1471-1473)tctfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29541548_29541549insTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	Exception_encountered	17.37:g.29541548_29541549insTT	ENSP00000351015:p.Leu492fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.S491fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.S491fs	p.S491fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	13	1855_1856	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	491		Y -> C (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.1472_1473insTT	CCDS42292.1																																																																																				0.297	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		21	12						21	12	---	---	---	---	TT	29541549	-	TT	29541548	7	5	92	1	0	1	1	0	0	0	0	0	10356	449	16	0	1522	0	NF1	17	29541548	Frame_Shift_Ins	INS	-	TCGA-S7-A7WM-01A-12D-A35I-08		29541548	51653662	13	1740										
TMEM105	284186	broad.mit.edu	37	chr17	79287591	79287591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccccaggcaggcccttcatGtcttcgccttcttatcttca	6	17	5	0			TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr17:79287591G>T	ENST00000332900.1	-	3	799	c.250C>A	c.(250-252)Cat>Aat	p.H84N		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	84						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGCCCTTCATGTCTTCGCCTT	0.652																																						ENST00000332900.1																			0				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7						c.(250-252)Cat>Aat		transmembrane protein 105							56	66	63					17																	79287591		2203	4300	6503	SO:0001583	missense	284186					integral to membrane		g.chr17:79287591G>T	AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.250C>A	17.37:g.79287591G>T	ENSP00000329795:p.His84Asn						p.H84N	NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)		3	799	-	all_neural(118;0.0804)|Melanoma(429;0.242)		84						Missense_Mutation	SNP	ENST00000332900.1	37	c.250C>A	CCDS11781.1	.	.	.	.	.	.	.	.	.	.	G	1.948	-0.441876	0.04604	.	.	ENSG00000185332	ENST00000332900	T	0.52754	0.65	0.96	-0.433	0.12287	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.17806	-1.0357	9	0.87932	D	0	.	3.9221	0.09248	0.0:0.0:0.5437:0.4563	.	84	Q8N8V8	TM105_HUMAN	N	84	ENSP00000329795:H84N	ENSP00000329795:H84N	H	-	1	0	TMEM105	76902186	0.020000	0.18652	0.010000	0.14722	0.075000	0.17131	-0.001000	0.12947	-0.130000	0.11599	0.313000	0.20887	CAT		0.652	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439607.1	NM_178520		31	59	1	0	6.38683e-12	1	7.4513e-12	31	59					T	79287591	G	T	79287591	3	4	92	1	0	0	0	0	1	0	0	0	16016	1377	48	5	143	5	TMEM105	17	79287591	Missense_Mutation	SNP	G	TCGA-S7-A7WM-01A-12D-A35I-08	49746043	79287591	1907619	14	1741										
GTPBP1	9567	broad.mit.edu	37	chr22	39101968	39101968	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	taagttattaaagatggcgaCggagcgcagtcgctccgcga							TCGA-S7-A7WM-01A-12D-A35I-08	TCGA-S7-A7WM-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73844b5a-f99e-4cd5-80f7-7770fefa45c2	d0bd9240-b845-4145-b995-8df43f151116	g.chr22:39101968delC	ENST00000216044.5	+	1	241	c.8delC	c.(7-9)acgfs	p.T3fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	3					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AAGATGGCGACGGAGCGCAGT	0.672																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(7-9)agfs		GTP binding protein 1							2	2	2					22																	39101968		1693	3479	5172	SO:0001589	frameshift_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39101968delC	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.8delC	22.37:g.39101968delC	ENSP00000216044:p.Thr3fs						p.T3fs	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			1	241	+	Melanoma(58;0.04)		3					Q6IC67	Frame_Shift_Del	DEL	ENST00000216044.5	37	c.8delC	CCDS13977.2																																																																																				0.672	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		2	4						2	4	---	---	---	---	-	39101968	C	-	39101968	7	5	92	1	0	1	0	1	0	0	0	0	6878	536	19	0	10	0	GTPBP1	22	39101968	Frame_Shift_Del	DEL	C	TCGA-S7-A7WM-01A-12D-A35I-08		39101968	12202598	15	1742										
GNAI3	2773	broad.mit.edu	37	chr1	110091364	110091364	+	Frame_Shift_Del	DEL	G	G	-													0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	tgggctgcacgttgagcgccGaagacaaggcggcagtggag							TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr1:110091364delG	ENST00000369851.4	+	1	132	c.22delG	c.(22-24)gaafs	p.E8fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	8					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GTTGAGCGCCGAAGACAAGGC	0.642																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(22-24)aafs		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							50	45	47					1																	110091364		2203	4300	6503	SO:0001589	frameshift_variant	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110091364delG	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.22delG	1.37:g.110091364delG	ENSP00000358867:p.Glu8fs						p.E8fs	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	1	132	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	8					P17539|Q5TZX1	Frame_Shift_Del	DEL	ENST00000369851.4	37	c.22delG	CCDS802.1																																																																																				0.642	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		2	4						2	4	---	---	---	---	-	110091364	G	-	110091364	7	5	93	1	0	1	0	1	0	0	0	0	6506	1059	37	0	24	0	GNAI3	1	110091364	Frame_Shift_Del	DEL	G	TCGA-S7-A7WN-01A-12D-A35I-08		110091364	139159257	1	1743										
ITGA10	8515	broad.mit.edu	37	chr1	145532464	145532464	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	tatgacctcttaggtccttgGtcactacctccggcggcagc	10	14	2	1			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr1:145532464G>C	ENST00000369304.3	+	9	1092	c.917G>C	c.(916-918)gGt>gCt	p.G306A	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Missense_Mutation_p.G175A|ITGA10_ENST00000539363.1_Missense_Mutation_p.G163A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGGTCCTTGGTCACTACCTC	0.458																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(916-918)gGt>gCt		integrin, alpha 10							114	108	110					1																	145532464		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145532464G>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.917G>C	1.37:g.145532464G>C	ENSP00000358310:p.Gly306Ala					ITGA10_ENST00000538811.1_Missense_Mutation_p.G175A|ITGA10_ENST00000539363.1_Missense_Mutation_p.G163A|ITGA10_ENST00000481236.1_3'UTR	p.G306A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			9	1092	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		306			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.917G>C	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904494	0.72868	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.55052	0.54;0.54;0.54	5.12	4.14	0.48551	von Willebrand factor, type A (3);	0.133937	0.49305	D	0.000143	T	0.65428	0.2690	M	0.77486	2.375	0.53688	D	0.999977	D;D;D;D	0.71674	0.998;0.998;0.96;0.997	D;D;D;D	0.78314	0.991;0.991;0.942;0.985	T	0.69285	-0.5185	10	0.87932	D	0	.	12.4167	0.55498	0.0:0.0:0.8314:0.1686	.	272;175;163;306	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	A	306;272;163;175	ENSP00000358310:G306A;ENSP00000439894:G163A;ENSP00000440011:G175A	ENSP00000358310:G306A	G	+	2	0	ITGA10	144243821	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.240000	0.78192	2.573000	0.86826	0.561000	0.74099	GGT		0.458	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		10	48	0	0	0	1	0	10	48					C	145532464	G	C	145532464	3	2	93	1	0	0	0	0	1	0	0	0	7873	1261	44	5	951	5	ITGA10	1	145532464	Missense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08	35441100	145532464	103718157	2	1744										
LYST	1130	broad.mit.edu	37	chr1	235929422	235929422	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	ttcgtgggattgtgacaaacGtaagtattagtaggagggtg	15	3	0	1	rs80338660	byFrequency	TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr1:235929422G>T	ENST00000389794.3	-	21	6252	c.6078C>A	c.(6076-6078)taC>taA	p.Y2026*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Y2026*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2026					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTGACAAACGTAAGTATTAG	0.343																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	GRCh37	CM021561	LYST	M	rs80338660	c.(6076-6078)taC>taA		lysosomal trafficking regulator							190	206	200					1																	235929422		2203	4300	6503	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235929422G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6078C>A	1.37:g.235929422G>T	ENSP00000374444:p.Tyr2026*					LYST_ENST00000389793.2_Nonsense_Mutation_p.Y2026*|LYST_ENST00000536965.1_3'UTR	p.Y2026*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		21	6252	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2026					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.6078C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	46	12.130242	0.99639	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.14	-4.24	0.03777	.	0.056130	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7357	0.77842	0.8832:0.0:0.1168:0.0	.	.	.	.	X	2026	.	ENSP00000374443:Y2026X	Y	-	3	2	LYST	233996045	0.501000	0.26099	0.974000	0.42286	0.993000	0.82548	-0.245000	0.08890	-0.604000	0.05760	-0.224000	0.12420	TAC		0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	138	1	0	5.18039e-06	1	5.18039e-06	6	138					T	235929422	G	T	235929422	4	4	93	1	0	0	0	0	0	1	0	0	9128	1140	40	5	5459	5	LYST	1	235929422	Nonsense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08	90396958	235929422	13321199	3	1745										
NFKB1	4790	broad.mit.edu	37	chr4	103516122	103516122	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	cctggaactactaaatctaaTgctgggatgaagcatggtaa	10	7	1	1			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr4:103516122T>C	ENST00000505458.1	+	13	1558	c.1281T>C	c.(1279-1281)aaT>aaC	p.N427N	NFKB1_ENST00000600343.1_Silent_p.N247N|NFKB1_ENST00000394820.4_Silent_p.N427N|NFKB1_ENST00000226574.4_Silent_p.N428N			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	427	Gly-rich.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CTAAATCTAATGCTGGGATGA	0.333																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1282-1284)aaT>aaC		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						111	102	105					4																	103516122		2203	4300	6503	SO:0001819	synonymous_variant	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103516122T>C	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1281T>C	4.37:g.103516122T>C						NFKB1_ENST00000600343.1_Silent_p.N247N|NFKB1_ENST00000505458.1_Silent_p.N427N|NFKB1_ENST00000394820.4_Silent_p.N427N	p.N428N	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	13	1751	+		Hepatocellular(203;0.217)	427			Gly-rich.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	ENST00000505458.1	37	c.1284T>C	CCDS54783.1																																																																																				0.333	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			24	42	0	0	0	1	0	24	42					C	103516122	T	C	103516122	2	2	93	1	0	0	0	0	0	0	0	1	10375	1461	51	4		4	NFKB1	4	103516122	Silent	SNP	T	TCGA-S7-A7WN-01A-12D-A35I-08		103516122	87638154	4	1746										
SORBS2	8470	broad.mit.edu	37	chr4	186544639	186544639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	cggtggtggtggtggtggtgAtggtggtggtggtggctgga	25	2	0	1			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr4:186544639A>G	ENST00000284776.7	-	13	2441	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Silent_p.H644H|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	644	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtgatggtggtggt	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1930-1932)caT>caC		sorbin and SH3 domain containing 2							54	54	54					4																	186544639		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544639A>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1932T>C	4.37:g.186544639A>G						SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron	p.H644H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2495	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	644			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1932T>C	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		3	38	0	0	0	1	0	3	38					G	186544639	A	G	186544639	2	3	93	1	0	0	0	0	0	0	0	1	14928	330	12	4		4	SORBS2	4	186544639	Silent	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08	83028517	186544639	4609637	5	1747										
ERCC8	1161	broad.mit.edu	37	chr5	60214156	60214156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	agcttgatgtgaacatgccaGtgtcatgaggataccactgt	11	8	1	3	rs565275111		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr5:60214156G>A	ENST00000265038.5	-	4	377	c.335C>T	c.(334-336)aCt>aTt	p.T112I	AC104113.3_ENST00000457499.1_RNA|ERCC8_ENST00000543101.1_5'UTR|ERCC8_ENST00000426742.2_Missense_Mutation_p.T54I	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	112					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				GAACATGCCAGTGTCATGAGG	0.348													G|||	1	0.000199681	0	0	5008	,	,		23920	0.001		0	False		,,,				2504	0					ENST00000426742.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(160-162)aCt>aTt		excision repair cross-complementing rodent repair deficiency, complementation group 8							129	123	125					5																	60214156		2203	4299	6502	SO:0001583	missense	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60214156G>A	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.335C>T	5.37:g.60214156G>A	ENSP00000265038:p.Thr112Ile					ERCC8_ENST00000543101.1_5'UTR|ERCC8_ENST00000265038.5_Missense_Mutation_p.T112I|AC104113.3_ENST00000457499.1_RNA	p.T54I			Q13216	ERCC8_HUMAN			5	595	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	112					B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	ENST00000265038.5	37	c.161C>T	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788523	0.90367	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000536596;ENST00000439176	T;T;T	0.81415	-1.49;-1.49;0.21	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.979;0.991	D	0.91120	0.4929	10	0.54805	T	0.06	-40.0204	17.9227	0.88972	0.0:0.0:1.0:0.0	.	112;112	Q13216-2;Q13216	.;ERCC8_HUMAN	I	54;112;111;54	ENSP00000400110:T54I;ENSP00000265038:T112I;ENSP00000408344:T54I	ENSP00000265038:T112I	T	-	2	0	ERCC8	60249913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.327000	0.96396	2.465000	0.83290	0.655000	0.94253	ACT		0.348	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		17	41	0	0	0	1	0	17	41					A	60214156	G	A	60214156	3	1	93	1	0	0	0	0	1	0	0	0	5219	1029	36	3	891	3	ERCC8	5	60214156	Missense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08		60214156	120701104	6	1748										
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	39	0	0	0	1	0	3	39					G	45390466	A	G	45390466	2	3	93	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08		45390466	125724601	7	1749										
DGAT1	8694	broad.mit.edu	37	chr8	145541987	145541987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	gtaggagaagagcttgaggaAgaggatggtgtgcgccatca	17	5	1	4			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr8:145541987A>G	ENST00000332324.4	-	7	886	c.613T>C	c.(613-615)Ttc>Ctc	p.F205L	DGAT1_ENST00000527438.1_5'Flank|DGAT1_ENST00000531896.1_Missense_Mutation_p.F205L	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	205					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTTGAGGAAGAGGATGGTG	0.692																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(613-615)Ttc>Ctc		diacylglycerol O-acyltransferase 1							36	35	35					8																	145541987		2203	4295	6498	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541987A>G	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.613T>C	8.37:g.145541987A>G	ENSP00000332258:p.Phe205Leu					DGAT1_ENST00000531896.1_Missense_Mutation_p.F205L	p.F205L	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	886	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		205					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.613T>C	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936630	0.92458	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T	0.71461	-0.57	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	L	0.55017	1.72	0.58432	D	0.999998	P;B	0.48350	0.909;0.218	P;B	0.48524	0.58;0.125	T	0.75852	-0.3171	10	0.66056	D	0.02	-23.1006	13.4781	0.61320	1.0:0.0:0.0:0.0	.	205;205	E9PS80;O75907	.;DGAT1_HUMAN	L	205	ENSP00000332258:F205L	ENSP00000332258:F205L	F	-	1	0	DGAT1	145512795	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.024000	0.57218	2.072000	0.62099	0.454000	0.30748	TTC		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		10	22	0	0	0	1	0	10	22					G	145541987	A	G	145541987	3	3	93	1	0	0	0	0	1	0	0	0	4457	72	3	4	897	4	DGAT1	8	145541987	Missense_Mutation	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08		145541987	822035	8	1750										
NOXA1	377841	broad.mit.edu	37	chr9	140327988	140327988	+	IGR	DEL	A	A	-													0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	gccctgagggcacgaagaggAgccgacctgtccagcctgcg							TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr9:140327988delA	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Frame_Shift_Del_p.G331fs|NOXA1_ENST00000392815.2_Frame_Shift_Del_p.G275fs			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CACGAAGAGGAGCCGACCTGT	0.701																																						ENST00000341349.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(991-993)ggfs		NADPH oxidase activator 1							15	20	18					9																	140327988		2187	4290	6477	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327988delA	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"GLSR2492"					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327988delA						NOXA1_ENST00000392815.2_Frame_Shift_Del_p.G275fs	p.G331fs	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	11	1173	+	all_cancers(76;0.0926)		331		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	OPR.		A2BG17|Q6UVZ0	Frame_Shift_Del	DEL	ENST00000472938.1	37	c.993delA	CCDS43913.1																																																																																				0.701	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		2	4						2	4	---	---	---	---	-	140327988	A	-	140327988	6	5	93	0	1	1	0	1	0	0	0	0	10560	291	11	0		0	NOXA1	9	140327988	IGR	DEL	A	TCGA-S7-A7WN-01A-12D-A35I-08		140327988	885443	9	1751										
MARCH5	54708	broad.mit.edu	37	chr10	94109245	94109245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	ctatgtgcttagactgtggcGcaaatactcgaataaactac	8	9	0	1			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr10:94109245G>A	ENST00000358935.2	+	4	841	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	170					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGACTGTGGCGCAAATACTCG	0.373																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(508-510)cGc>cAc		membrane-associated ring finger (C3HC4) 5							138	138	138					10																	94109245		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109245G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.509G>A	10.37:g.94109245G>A	ENSP00000351813:p.Arg170His					MARCH5_ENST00000467521.2_3'UTR	p.R170H	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			4	841	+			170						Missense_Mutation	SNP	ENST00000358935.2	37	c.509G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923448	0.73213	.	.	ENSG00000198060	ENST00000358935	T	0.51325	0.71	6.02	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.58810	1.83	0.80722	D	1	B	0.32918	0.39	B	0.29942	0.109	T	0.46843	-0.9162	10	0.52906	T	0.07	-4.7559	15.6994	0.77533	0.0663:0.0:0.9337:0.0	.	170	Q9NX47	MARH5_HUMAN	H	170	ENSP00000351813:R170H	ENSP00000351813:R170H	R	+	2	0	MARCH5	94099225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.754000	0.68743	2.865000	0.98341	0.655000	0.94253	CGC		0.373	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		4	89	0	0	0	1	0	4	89					A	94109245	G	A	94109245	3	1	93	1	0	0	0	0	1	0	0	0	9304	1087	38	1	523	1	MARCH5	10	94109245	Missense_Mutation	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08		94109245	41425502	10	1752										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		35	15	0	0	0	1	0	35	15					C	533874	T	C	533874	3	2	93	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-S7-A7WN-01A-12D-A35I-08		533874	134472642	11	1753										
HSPA2	3306	broad.mit.edu	37	chr14	65007789	65007789	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	atcttcgacgccaagaggctGattggacggaaattcgagga	13	8	1	2			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr14:65007789G>A	ENST00000394709.1	+	2	298	c.222G>A	c.(220-222)ctG>ctA	p.L74L	HSPA2_ENST00000247207.6_Silent_p.L74L|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_Intron			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	74					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCAAGAGGCTGATTGGACGGA	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(220-222)ctG>ctA		heat shock 70kDa protein 2							102	83	90					14																	65007789		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007789G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.222G>A	14.37:g.65007789G>A						HSPA2_ENST00000394709.1_Silent_p.L74L|HSPA2_ENST00000554883.1_Intron	p.L74L	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	604	+			74					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.222G>A	CCDS9766.1																																																																																				0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			12	21	0	0	0	1	0	12	21					A	65007789	G	A	65007789	2	1	93	1	0	0	0	0	0	0	0	1	7411	1277	45	3		3	HSPA2	14	65007789	Silent	SNP	G	TCGA-S7-A7WN-01A-12D-A35I-08		65007789	42341751	12	1754										
TP53BP1	7158	broad.mit.edu	37	chr15	43712934	43712934	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	ggccaggcacagctgtttctCtaaagagagataggggatag	14	7	1	2			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr15:43712934C>G	ENST00000263801.3	-	21	4488		c.e21-1		TP53BP1_ENST00000382044.4_Splice_Site|TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382039.3_Splice_Site	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGCTGTTTCTCTAAAGAGAGA	0.498								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.e21-1	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							20	22	21					15																	43712934		2158	4233	6391	SO:0001630	splice_region_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43712934C>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4236-1G>C	15.37:g.43712934C>G						TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382039.3_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site		NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	21	4488	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)						F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Splice_Site	SNP	ENST00000263801.3	37		CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006239	0.54361	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3811	0.90451	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53BP1	41500226	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.699000	0.68310	2.648000	0.89879	0.650000	0.86243	.		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		Intron	11	28	0	0	0	1	0	11	28					G	43712934	C	G	43712934	5	3	93	1	0	0	0	0	0	0	1	0	16380	927	32	5	1715	5	TP53BP1	15	43712934	Splice_Site	SNP	C	TCGA-S7-A7WN-01A-12D-A35I-08		43712934	58818458	13	1755										
ADAMTS7	11173	broad.mit.edu	37	chr15	79059040	79059040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	taggacagatcctcgtggaaAttgatgaaattgtagtcgta	11	5	0	3	rs199919711		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.N1071N(2)|p.N1071S(2)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aaT>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059040A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3213T>C	15.37:g.79059040A>G							p.N1071N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3213T>C	CCDS32303.1																																																																																				0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	45	0	0	0	1	0	3	45					G	79059040	A	G	79059040	2	3	93	1	0	0	0	0	0	0	0	1	271	98	4	4		4	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-S7-A7WN-01A-12D-A35I-08	35346106	79059040	23472352	14	1756										
MYO5B	4645	broad.mit.edu	37	chr18	47421443	47421443	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	ctggtgtcctcacctgggctCtgctggtagtgcaccagctc	12	14	2	0			TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chr18:47421443C>T	ENST00000285039.7	-	22	3212	c.2913G>A	c.(2911-2913)caG>caA	p.Q971Q	MYO5B_ENST00000324581.6_Silent_p.Q112Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	971					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CACCTGGGCTCTGCTGGTAGT	0.587																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2911-2913)caG>caA		myosin VB							64	65	65					18																	47421443		2042	4195	6237	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47421443C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2913G>A	18.37:g.47421443C>T						MYO5B_ENST00000324581.6_Silent_p.Q112Q	p.Q971Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	22	3212	-			971					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.2913G>A	CCDS42436.1																																																																																				0.587	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			22	38	0	0	0	1	0	22	38					T	47421443	C	T	47421443	2	4	93	1	0	0	0	0	0	0	0	1	10079	912	32	3		3	MYO5B	18	47421443	Silent	SNP	C	TCGA-S7-A7WN-01A-12D-A35I-08		47421443	30655805	15	1757										
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													0.1875	3	1	5.01785714285714	5.01785714285714	5.01785714285714	1	1	0	cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-S7-A7WN-01A-12D-A35I-08	TCGA-S7-A7WN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d79ad63-503c-4bd0-aff3-5610dbf35d6a	6e84f646-7234-440a-91b2-e790945f9726	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		3	5						3	5	---	---	---	---	-	50350713	TCC	-	50350711	7	5	93	1	0	1	0	1	0	0	0	0	14296	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-S7-A7WN-01A-12D-A35I-08		50350711	104919849	16	1758										
SNTG2	54221	broad.mit.edu	37	chr2	1241771	1241771	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggtctcagccaacatcagGgagctgacacttcagaacgt	11	12	3	2			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr2:1241771G>A	ENST00000308624.5	+	10	960	c.831G>A	c.(829-831)agG>agA	p.R277R	SNTG2_ENST00000407292.1_Silent_p.R150R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	277					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAACATCAGGGAGCTGACAC	0.537																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(829-831)agG>agA		syntrophin, gamma 2							31	36	34					2																	1241771		2190	4281	6471	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1241771G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.831G>A	2.37:g.1241771G>A						SNTG2_ENST00000407292.1_Silent_p.R150R	p.R277R	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	10	960	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	277					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.831G>A	CCDS46220.1																																																																																				0.537	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		7	6	0	0	0	1	0	7	6					A	1241771	G	A	1241771	2	1	94	1	0	0	0	0	0	0	0	1	14875	1223	43	3		3	SNTG2	2	1241771	Silent	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		1241771	241957602	1	1759										
GNA12	2768	broad.mit.edu	37	chr7	2771272	2771272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctggcgctgggaccgctggCcgcccacatccaccatctta	10	17	2	0			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr7:2771272C>T	ENST00000275364.3	-	4	851	c.689G>A	c.(688-690)gGc>gAc	p.G230D	GNA12_ENST00000407904.3_Missense_Mutation_p.G171D|GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Missense_Mutation_p.G82D	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	230					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGACCGCTGGCCGCCCACATC	0.542																																						ENST00000275364.3																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(688-690)gGc>gAc		guanine nucleotide binding protein (G protein) alpha 12							86	78	80					7																	2771272		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2771272C>T	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.689G>A	7.37:g.2771272C>T	ENSP00000275364:p.Gly230Asp					GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000396960.3_Missense_Mutation_p.G82D|GNA12_ENST00000544127.1_Missense_Mutation_p.G137D|GNA12_ENST00000407904.3_Missense_Mutation_p.G171D|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_Missense_Mutation_p.G154D	p.G230D	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	851	-		Ovarian(82;0.0112)	230					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.689G>A	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723787	0.89298	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.99194	-5.54;-5.54;-5.54;-5.54;-5.54	6.17	5.3	0.74995	.	0.048236	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99156	4.45	0.80722	D	1	P;D;P	0.89917	0.702;1.0;0.702	P;D;P	0.97110	0.746;1.0;0.812	D	0.97213	0.9872	10	0.87932	D	0	.	15.565	0.76284	0.0:0.9345:0.0:0.0655	.	230;230;171	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	D	230;171;154;82;137	ENSP00000275364:G230D;ENSP00000385935:G171D;ENSP00000386054:G154D;ENSP00000380160:G82D;ENSP00000437469:G137D	ENSP00000275364:G230D	G	-	2	0	GNA12	2737798	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	7.720000	0.84759	1.636000	0.50526	-0.136000	0.14681	GGC		0.542	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		4	125	0	0	0	1	0	4	125					T	2771272	C	T	2771272	3	4	94	1	0	0	0	0	1	0	0	0	6500	739	26	3	460	3	GNA12	7	2771272	Missense_Mutation	SNP	C	TCGA-S7-A7WO-01A-11D-A35I-08		2771272	156367391	2	1760										
ZNF207	7756	broad.mit.edu	37	chr17	30677312	30677312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtagaacacagttatgggtcGcaagaagaagaagcagctga	13	6	0	5			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr17:30677312G>A	ENST00000321233.6	+	1	162	c.8G>A	c.(7-9)cGc>cAc	p.R3H	MIR632_ENST00000385193.1_RNA|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394670.4_Missense_Mutation_p.R3H|ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	3	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTATGGGTCGCAAGAAGAAG	0.537																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(7-9)cGc>cAc		zinc finger protein 207							205	196	199					17																	30677312		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677312G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.8G>A	17.37:g.30677312G>A	ENSP00000322777:p.Arg3His					ZNF207_ENST00000341711.6_Missense_Mutation_p.R3H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R3H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R3H|ZNF207_ENST00000321233.6_Missense_Mutation_p.R3H|ZNF207_ENST00000342555.6_5'UTR|RP11-227G15.3_ENST00000581915.1_RNA	p.R3H	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	177	+		Breast(31;0.116)|Ovarian(249;0.182)	3					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.8G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741474	0.89573	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	M	0.80982	2.52	0.47737	D	0.9995	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	T	0.37454	-0.9705	10	0.87932	D	0	.	17.1425	0.86757	0.0:0.0:1.0:0.0	.	6;3;3;3	Q59G94;E1P660;O43670-2;O43670	.;.;.;ZN207_HUMAN	H	3;3;6;3;3;3	ENSP00000378165:R3H;ENSP00000378168:R3H;ENSP00000322777:R3H;ENSP00000344913:R3H	ENSP00000322777:R3H	R	+	2	0	ZNF207	27701425	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.189000	0.77747	2.470000	0.83445	0.655000	0.94253	CGC		0.537	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			6	143	0	0	0	1	0	6	143					A	30677312	G	A	30677312	3	1	94	1	0	0	0	0	1	0	0	0	17762	1087	38	1	10	1	ZNF207	17	30677312	Missense_Mutation	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		30677312	50517898	3	1761										
SIGLEC9	27180	broad.mit.edu	37	chr19	51628487	51628487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cagctcgggcagtgtgggagGagactcgggaccgattccac	16	11	0	1			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chr19:51628487G>A	ENST00000250360.3	+	1	323	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.E86K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	86	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGTGTGGGAGGAGACTCGGGA	0.572																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(256-258)Gag>Aag		sialic acid binding Ig-like lectin 9							108	97	101					19																	51628487		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628487G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.256G>A	19.37:g.51628487G>A	ENSP00000250360:p.Glu86Lys					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.E86K	p.E86K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	323	+		all_neural(266;0.0529)	86			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.256G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.28	1.593326	0.28357	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.65732	-0.17;-0.17	2.75	-1.23	0.09465	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.618732	0.13194	N	0.406475	T	0.52435	0.1734	L	0.53729	1.69	0.09310	N	1	P	0.38597	0.639	B	0.40009	0.316	T	0.45264	-0.9273	10	0.45353	T	0.12	.	5.8915	0.18915	0.4343:0.0:0.5657:0.0	.	86	Q9Y336	SIGL9_HUMAN	K	86	ENSP00000413861:E86K;ENSP00000250360:E86K	ENSP00000250360:E86K	E	+	1	0	SIGLEC9	56320299	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.210000	0.17455	-0.061000	0.13110	0.411000	0.27672	GAG		0.572	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		5	80	0	0	0	1	0	5	80					A	51628487	G	A	51628487	3	1	94	1	0	0	0	0	1	0	0	0	14315	1175	41	3	258	3	SIGLEC9	19	51628487	Missense_Mutation	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		51628487	7500496	4	1762										
ACRC	93953	broad.mit.edu	37	chrX	70823569	70823569	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaacagtgatgattcagaaGctcccgacgacaacagtgat	9	10	1	4			TCGA-S7-A7WO-01A-11D-A35I-08	TCGA-S7-A7WO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	751155ce-fde0-4b45-95ed-cdc7ff67e7e7	6b372fa4-36b7-4afc-a858-6e48fbea228c	g.chrX:70823569G>C	ENST00000373695.1	+	7	979	c.442G>C	c.(442-444)Gct>Cct	p.A148P	ACRC_ENST00000373696.3_Missense_Mutation_p.A148P			Q96QF7	ACRC_HUMAN	acidic repeat containing	148	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGATTCAGAAGCTCCCGACGA	0.483																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(442-444)Gct>Cct		acidic repeat containing							216	191	199					X																	70823569		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823569G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.442G>C	X.37:g.70823569G>C	ENSP00000362799:p.Ala148Pro					ACRC_ENST00000373696.3_Missense_Mutation_p.A148P	p.A148P			Q96QF7	ACRC_HUMAN			7	979	+	Renal(35;0.156)		148			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.442G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759850	0.15846	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.44083	0.93;0.93	0.225	0.225	0.15325	.	.	.	.	.	T	0.18800	0.0451	N	0.14661	0.345	0.09310	N	1	D	0.54964	0.969	B	0.34991	0.193	T	0.13442	-1.0509	8	0.59425	D	0.04	.	.	.	.	.	148	Q96QF7	ACRC_HUMAN	P	148	ENSP00000362800:A148P;ENSP00000362799:A148P	ENSP00000362799:A148P	A	+	1	0	ACRC	70740294	0.076000	0.21285	0.002000	0.10522	0.002000	0.02628	4.057000	0.57455	0.280000	0.22209	0.284000	0.19432	GCT		0.483	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			8	256	0	0	0	1	0	8	256					C	70823569	G	C	70823569	3	2	94	1	0	0	0	0	1	0	0	0	171	971	34	5	468	5	ACRC	23	70823569	Missense_Mutation	SNP	G	TCGA-S7-A7WO-01A-11D-A35I-08		70823569	84446991	5	1763										
TRANK1	9881	broad.mit.edu	37	chr3	36893822	36893822	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	taaatccaccactccagatgCcagattgaggattcctggaa							TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr3:36893822delC	ENST00000429976.2	-	13	4679	c.4432delG	c.(4432-4434)gcafs	p.A1478fs	TRANK1_ENST00000428977.2_Frame_Shift_Del_p.A928fs|TRANK1_ENST00000463984.1_5'Flank|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.A928fs	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1478							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			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						ACTCCAGATGCCAGATTGAGG	0.428																																						ENST00000429976.2																			0				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.(4432-4434)cafs		tetratricopeptide repeat and ankyrin repeat containing 1							35	33	33					3																	36893822		1856	4097	5953	SO:0001589	frameshift_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36893822delC	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.4432delG	3.37:g.36893822delC	ENSP00000416168:p.Ala1478fs					TRANK1_ENST00000428977.2_Frame_Shift_Del_p.A928fs|TRANK1_ENST00000301807.6_Frame_Shift_Del_p.A928fs	p.A1478fs			O15050	TRNK1_HUMAN			13	4679	-			1478					Q8N8K0	Frame_Shift_Del	DEL	ENST00000429976.2	37	c.4432delG	CCDS46789.2																																																																																				0.428	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		2	4						2	4	---	---	---	---	-	36893822	C	-	36893822	7	5	95	1	0	1	0	1	0	0	0	0	16451	739	26	0	4389	0	TRANK1	3	36893822	Frame_Shift_Del	DEL	C	TCGA-S7-A7WP-01A-11D-A35I-08		36893822	161128608	1	1764										
LGI2	55203	broad.mit.edu	37	chr4	25032205	25032205	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	ttggtacagctgcaagtggcGgggcagcgcgccagccgcct							TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr4:25032205delG	ENST00000382114.4	-	1	296	c.111delC	c.(109-111)cccfs	p.P37fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	37	LRRNT.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGCAAGTGGCGGGGCAGCGCG	0.706																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(109-111)ccfs		leucine-rich repeat LGI family, member 2							11	14	13					4																	25032205		2166	4237	6403	SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25032205delG	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.111delC	4.37:g.25032205delG	ENSP00000371548:p.Pro37fs						p.P37fs	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			1	296	-		Breast(46;0.173)	37			LRRNT.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Del	DEL	ENST00000382114.4	37	c.111delC	CCDS3431.1																																																																																				0.706	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			3	5						3	5	---	---	---	---	-	25032205	G	-	25032205	7	5	95	1	0	1	0	1	0	0	0	0	8752	1103	39	0	1558	0	LGI2	4	25032205	Frame_Shift_Del	DEL	G	TCGA-S7-A7WP-01A-11D-A35I-08		25032205	166122071	2	1765										
TCTE1	202500	broad.mit.edu	37	chr6	44250125	44250125	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacctggttgttagccaggtTgagcacacgcaggcggctgt	14	11	0	1			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr6:44250125T>G	ENST00000371505.4	-	4	1140	c.1018A>C	c.(1018-1020)Aac>Cac	p.N340H	TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	340										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTAGCCAGGTTGAGCACACGC	0.602																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1018-1020)Aac>Cac		t-complex-associated-testis-expressed 1							159	135	143					6																	44250125		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250125T>G	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1018A>C	6.37:g.44250125T>G	ENSP00000360560:p.Asn340His					TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron	p.N340H	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1140	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		340					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1018A>C	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297222	0.40694	.	.	ENSG00000146221	ENST00000371505	T	0.55930	0.49	5.37	5.37	0.77165	.	0.245514	0.46442	D	0.000296	T	0.29223	0.0727	L	0.49126	1.545	0.80722	D	1	B	0.20052	0.041	B	0.29077	0.098	T	0.21143	-1.0254	10	0.24483	T	0.36	-38.2635	7.405	0.26985	0.0:0.0734:0.1445:0.7821	.	340	Q5JU00	TCTE1_HUMAN	H	340	ENSP00000360560:N340H	ENSP00000360560:N340H	N	-	1	0	TCTE1	44358103	0.996000	0.38824	1.000000	0.80357	0.965000	0.64279	1.263000	0.33004	2.176000	0.68965	0.374000	0.22700	AAC		0.602	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		17	67	0	0	0	1	0	17	67					G	44250125	T	G	44250125	3	3	95	1	0	0	0	0	1	0	0	0	15714	1812	63	5	495	5	TCTE1	6	44250125	Missense_Mutation	SNP	T	TCGA-S7-A7WP-01A-11D-A35I-08		44250125	126864942	3	1766										
ZFC3H1	196441	broad.mit.edu	37	chr12	72032295	72032295	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcggttgcactggtgaaggaGctgtaaaaaaattttttgtt	12	4	0	1			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr12:72032295G>A	ENST00000378743.3	-	7	1986	c.1628C>T	c.(1627-1629)gCt>gTt	p.A543V	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	543	Pro-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGGTGAAGGAGCTGTAAAAAA	0.358																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e7-1		zinc finger, C3H1-type containing							42	41	42					12																	72032295		1798	4062	5860	SO:0001630	splice_region_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72032295G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1628-1C>T	12.37:g.72032295G>A							p.A543_splice	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			7	1986	-			543			Pro-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	SNP	ENST00000378743.3	37	c.1627_splice	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975436	0.34848	.	.	ENSG00000133858	ENST00000378743	T	0.34275	1.37	5.39	4.47	0.54385	.	0.324810	0.28209	N	0.016197	T	0.22437	0.0541	N	0.19112	0.55	0.80722	D	1	B	0.26081	0.141	B	0.17722	0.019	T	0.05257	-1.0896	10	0.52906	T	0.07	.	9.1046	0.36689	0.1815:0.0:0.8185:0.0	.	543	O60293	ZC3H1_HUMAN	V	543	ENSP00000368017:A543V	ENSP00000368017:A543V	A	-	2	0	ZFC3H1	70318562	1.000000	0.71417	0.957000	0.39632	0.567000	0.35839	2.455000	0.44988	1.215000	0.43411	0.655000	0.94253	GCT		0.358	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	Missense_Mutation	7	21	0	0	0	1	0	7	21					A	72032295	G	A	72032295	5	1	95	1	0	0	0	0	0	0	1	0	17630	985	34	3	4457	3	ZFC3H1	12	72032295	Splice_Site	SNP	G	TCGA-S7-A7WP-01A-11D-A35I-08		72032295	61819600	4	1767										
CACNA1H	8912	broad.mit.edu	37	chr16	1260066	1260066	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	NA	0	1	1	0	ccgcctgcataaagtgctggAgccctacaagccccagtggt							TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr16:1260066delA	ENST00000348261.5	+	18	4024	c.3776delA	c.(3775-3777)gagfs	p.E1259fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.E1259fs|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.E1259fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1259					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AAAGTGCTGGAGCCCTACAAG	0.697																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(3775-3777)ggfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						12	17	15					16																	1260066		2067	4127	6194	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1260066delA	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3776delA	16.37:g.1260066delA	ENSP00000334198:p.Glu1259fs					CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.E1259fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.E1259fs	p.E1259fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			18	4024	+		Hepatocellular(780;0.00369)	1259					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.3776delA	CCDS45375.1																																																																																				0.697	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---	-	1260066	A	-	1260066	7	5	95	1	0	1	0	1	0	0	0	0	2545	304	11	0	3842	0	CACNA1H	16	1260066	Frame_Shift_Del	DEL	A	TCGA-S7-A7WP-01A-11D-A35I-08		1260066	89094687	5	1768										
GOSR2	9570	broad.mit.edu	37	chr17	45016027	45016027	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgtccaacacagtgatgcgGctcatcgagaagcgggcttt	12	10	1	2			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr17:45016027G>A	ENST00000393456.2	+	6	597	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GOSR2_ENST00000225567.4_Silent_p.R180R|GOSR2_ENST00000576910.2_Silent_p.R133R|RP11-156P1.2_ENST00000571841.1_Silent_p.R180R|GOSR2_ENST00000439730.2_Silent_p.R180R	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	180					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CAGTGATGCGGCTCATCGAGA	0.493																																						ENST00000576910.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(397-399)cgG>cgA		golgi SNAP receptor complex member 2							278	239	252					17																	45016027		2203	4300	6503	SO:0001819	synonymous_variant	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016027G>A	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.540G>A	17.37:g.45016027G>A						GOSR2_ENST00000225567.4_Silent_p.R180R|GOSR2_ENST00000439730.2_Silent_p.R180R|RP11-156P1.2_ENST00000571841.1_Silent_p.R180R|GOSR2_ENST00000393456.2_Silent_p.R180R	p.R133R			O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	475	+			180					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	c.399G>A	CCDS42355.1																																																																																				0.493	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			4	173	0	0	0	1	0	4	173					A	45016027	G	A	45016027	2	1	95	1	0	0	0	0	0	0	0	1	6578	1190	42	3		3	GOSR2	17	45016027	Silent	SNP	G	TCGA-S7-A7WP-01A-11D-A35I-08		45016027	36179183	6	1769										
GPRC5C	55890	broad.mit.edu	37	chr17	72436724	72436724	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tacttacggcaacaagcagcAcaacagtcccacctgggatg	9	13	0	0			TCGA-S7-A7WP-01A-11D-A35I-08	TCGA-S7-A7WP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	687119b3-37f2-45c9-a3a7-99f98f22db9f	97dfb2ff-9dc1-4c76-9c1e-905963ed10e8	g.chr17:72436724A>T	ENST00000392627.1	+	2	2070	c.944A>T	c.(943-945)cAc>cTc	p.H315L	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.H282L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	270					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AACAAGCAGCACAACAGTCCC	0.607																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(943-945)cAc>cTc		G protein-coupled receptor, family C, group 5, member C							100	78	86					17																	72436724		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436724A>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"GPCR / Class C : Orphans"	13309	protein-coding gene	gene with protein product		605949	"G protein-coupled receptor, family C, group 5, member C"			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.944A>T	17.37:g.72436724A>T	ENSP00000376403:p.His315Leu					GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.H282L|GPRC5C_ENST00000342648.5_Intron	p.H315L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	2070	+			270					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.944A>T	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.164862	0.01673	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	T	0.17213	2.29	5.63	-3.77	0.04346	GPCR, family 3, C-terminal (1);	0.663603	0.15796	N	0.244199	T	0.06234	0.0161	N	0.12746	0.255	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.41805	-0.9488	10	0.09084	T	0.74	-12.7236	7.6161	0.28158	0.3664:0.0:0.5148:0.1189	.	270;270;282	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	L	270;315;282;270	ENSP00000376405:H282L	ENSP00000340595:H315L	H	+	2	0	GPRC5C	69948319	0.000000	0.05858	0.211000	0.23655	0.064000	0.16182	-2.062000	0.01390	-0.554000	0.06150	-1.017000	0.02453	CAC		0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			3	47	0	0	0	1	0	3	47					T	72436724	A	T	72436724	3	4	95	1	0	0	0	0	1	0	0	0	6726	159	6	5	958	5	GPRC5C	17	72436724	Missense_Mutation	SNP	A	TCGA-S7-A7WP-01A-11D-A35I-08	27420697	72436724	8758486	7	1770										
ATAD3B	83858	broad.mit.edu	37	chr1	1421933	1421933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcttgtccagaaactcgccCtgcactcaggcatggactac	8	14	2	1			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:1421933C>A	ENST00000308647.7	+	11	1215	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	367						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAAACTCGCCCTGCACTCAGG	0.617																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1099-1101)Ctg>Atg		ATPase family, AAA domain containing 3B							58	53	55					1																	1421933		2191	4293	6484	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1421933C>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1099C>A	1.37:g.1421933C>A	ENSP00000311766:p.Leu367Met						p.L367M	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	11	1215	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	367					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1099C>A	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	1.451	-0.565141	0.03939	.	.	ENSG00000160072	ENST00000360489;ENST00000378737;ENST00000308647	D	0.92858	-3.12	2.07	0.929	0.19449	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.252027	0.39020	N	0.001488	T	0.80864	0.4705	N	0.16656	0.425	0.80722	D	1	B;B	0.21821	0.05;0.061	B;B	0.19666	0.022;0.026	T	0.71971	-0.4431	10	0.39692	T	0.17	.	3.9497	0.09363	0.3823:0.3792:0.2385:0.0	.	321;367	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	M	262;184;367	ENSP00000311766:L367M	ENSP00000311766:L367M	L	+	1	2	ATAD3B	1411796	0.797000	0.28877	0.685000	0.30070	0.017000	0.09413	1.238000	0.32707	1.139000	0.42245	0.205000	0.17691	CTG		0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		6	36	1	0	6.40141e-05	1	6.67973e-05	6	36					A	1421933	C	A	1421933	3	1	96	1	0	0	0	0	1	0	0	0	1074	680	24	5	1141	5	ATAD3B	1	1421933	Missense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08		1421933	247828688	1	1771										
FAM131C	348487	broad.mit.edu	37	chr1	16385168	16385169	+	Frame_Shift_Ins	INS	-	-	G													0	0	1	0	0	0	1	1	0	tgaaggctgtcatcctgtgaINSggggccgctgggaaggctgt							TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:16385168_16385169insG	ENST00000375662.4	-	7	789_790	c.606_607insC	c.(604-609)ccctcafs	p.S203fs	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	203										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGTGAGGGGCCGCTGG	0.653																																						ENST00000375662.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(604-609)cccacafs		family with sequence similarity 131, member C																																				SO:0001589	frameshift_variant	348487							g.chr1:16385168_16385169insG		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.607dupC	1.37:g.16385172_16385172dupG	ENSP00000364814:p.Ser203fs					FAM131C_ENST00000494078.1_5'UTR	p.T203fs	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	7	789_790	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	203					Q5T5Q5|Q8N3X3|Q8N9P9	Frame_Shift_Ins	INS	ENST00000375662.4	37	c.606_607insC	CCDS41270.1																																																																																				0.653	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623		2	4						2	4	---	---	---	---	G	16385169	-	G	16385168	7	5	96	1	0	1	1	0	0	0	0	0	5441	304	11	0	239	0	FAM131C	1	16385168	Frame_Shift_Ins	INS	-	TCGA-S7-A7WQ-01A-12D-A35I-08	14963235	16385168	232865453	2	1772										
AKR7A3	22977	broad.mit.edu	37	chr1	19615023	19615023	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgcccagccggagccccaGgccgccaaggatggtctcgg	15	17	1	0	rs115242113	byFrequency	TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:19615023G>A	ENST00000361640.4	-	1	721	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	61					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)	p.L61L(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGCCCCAGGCCGCCAAGG	0.692																																						ENST00000361640.4																			1	Substitution - coding silent(1)	p.L61L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(181-183)Ctg>Ttg		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)							23	25	25					1																	19615023		2202	4298	6500	SO:0001819	synonymous_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19615023G>A	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.181C>T	1.37:g.19615023G>A							p.L61L	NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	721	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	61					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Silent	SNP	ENST00000361640.4	37	c.181C>T	CCDS193.1																																																																																				0.692	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		4	15	0	0	0	1	0	4	15					A	19615023	G	A	19615023	2	1	96	1	0	0	0	0	0	0	0	1	476	991	35	3		3	AKR7A3	1	19615023	Silent	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08	3229855	19615023	229635598	3	1773										
STK40	83931	broad.mit.edu	37	chr1	36823840	36823840	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagggggaaggccgctcacCtggaagaggccgtggtggtg	20	8	1	2			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr1:36823840C>T	ENST00000373129.3	-	5	748	c.342G>A	c.(340-342)caG>caA	p.Q114Q	STK40_ENST00000359297.2_Splice_Site_p.Q114Q|STK40_ENST00000373132.3_Splice_Site_p.Q114Q|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Splice_Site_p.Q119Q	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GGCCGCTCACCTGGAAGAGGC	0.647																																						ENST00000359297.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.e3+1		serine/threonine kinase 40							61	53	56					1																	36823840		2203	4300	6503	SO:0001630	splice_region_variant	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36823840C>T	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.342+1G>A	1.37:g.36823840C>T						STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373130.3_Splice_Site_p.Q119_splice|STK40_ENST00000373132.3_Splice_Site_p.Q114_splice|STK40_ENST00000373129.3_Splice_Site_p.Q114_splice	p.Q114_splice			Q8N2I9	STK40_HUMAN			3	349	-		Myeloproliferative disorder(586;0.0393)	114			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Splice_Site	SNP	ENST00000373129.3	37	c.342_splice	CCDS407.1																																																																																				0.647	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	Silent	6	20	0	0	0	1	0	6	20					T	36823840	C	T	36823840	5	4	96	1	0	0	0	0	0	0	1	0	15306	695	24	3	997	3	STK40	1	36823840	Splice_Site	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08	17208817	36823840	212426781	4	1774										
FAM107A	11170	broad.mit.edu	37	chr3	58552410	58552410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgatcctcttccttctctgGtggtttttccagctgaagga	10	10	2	2			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr3:58552410G>A	ENST00000394481.1	-	5	898	c.340C>T	c.(340-342)Cca>Tca	p.P114S	FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S|FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000447756.2_Missense_Mutation_p.P142S	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	114					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCCTTCTCTGGTGGTTTTTCC	0.537																																						ENST00000394481.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(340-342)Cca>Tca		family with sequence similarity 107, member A							74	75	75					3																	58552410		2203	4300	6503	SO:0001583	missense	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58552410G>A	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.340C>T	3.37:g.58552410G>A	ENSP00000377991:p.Pro114Ser					FAM107A_ENST00000474531.1_Missense_Mutation_p.P145S|FAM107A_ENST00000447756.2_Missense_Mutation_p.P142S|FAM107A_ENST00000464064.1_3'UTR|FAM107A_ENST00000360997.2_Missense_Mutation_p.P114S	p.P114S	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	5	898	-			114					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	ENST00000394481.1	37	c.340C>T	CCDS2892.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098614	0.20552	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000474531;ENST00000447756	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.06	4.13	0.48395	.	0.571544	0.19151	N	0.121451	T	0.34978	0.0916	L	0.44542	1.39	0.38369	D	0.94483	P;B;B	0.35033	0.481;0.245;0.126	B;B;B	0.36244	0.22;0.138;0.096	T	0.15752	-1.0426	10	0.11182	T	0.66	-26.1997	15.1263	0.72486	0.0:0.0:0.8586:0.1414	.	142;145;114	B7ZAY5;B3KNQ4;O95990	.;.;F107A_HUMAN	S	114;114;145;142	ENSP00000354270:P114S;ENSP00000377991:P114S;ENSP00000419124:P145S;ENSP00000400858:P142S	ENSP00000354270:P114S	P	-	1	0	FAM107A	58527450	0.968000	0.33430	0.684000	0.30055	0.359000	0.29487	1.836000	0.39191	2.520000	0.84964	0.563000	0.77884	CCA		0.537	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		13	43	0	0	0	1	0	13	43					A	58552410	G	A	58552410	3	1	96	1	0	0	0	0	1	0	0	0	5389	1261	44	3	98	3	FAM107A	3	58552410	Missense_Mutation	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08		58552410	139470020	5	1775										
SULT1E1	6783	broad.mit.edu	37	chr4	70713495	70713496	+	Frame_Shift_Del	DEL	CA	CA	-													0	0	1	0	0	0	1	1	0	aagattttacatgtttatacCaggaaccataaggaactaaa							TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr4:70713495_70713496delCA	ENST00000226444.3	-	6	623_624	c.511_512delTG	c.(511-513)tggfs	p.W171fs		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	171					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	ATGTTTATACCAGGAACCATAA	0.366																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(511-513)gfs		sulfotransferase family 1E, estrogen-preferring, member 1																																				SO:0001589	frameshift_variant	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70713495_70713496delCA	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.511_512delTG	4.37:g.70713495_70713496delCA	ENSP00000226444:p.Trp171fs						p.W171fs	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			6	623_624	-			171					Q8N6X5	Frame_Shift_Del	DEL	ENST00000226444.3	37	c.511_512delTG	CCDS3531.1																																																																																				0.366	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		8	111						8	111	---	---	---	---	-	70713496	CA	-	70713495	7	5	96	1	0	1	0	1	0	0	0	0	15377	595	21	0	384	0	SULT1E1	4	70713495	Frame_Shift_Del	DEL	CA	TCGA-S7-A7WQ-01A-12D-A35I-08		70713495	120440781	6	1776										
TAF9	6880	broad.mit.edu	37	chr5	68661172	68661172	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgatgcctttttctgtaaAgatttcagcctatagtttgg	9	6	2	2			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr5:68661172A>C	ENST00000328663.4	-	3	859	c.393T>G	c.(391-393)tcT>tcG	p.S131S	TAF9_ENST00000217893.5_Silent_p.S131S|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.S131S|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	131					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTTTCTGTAAAGATTTCAGCC	0.443																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(391-393)tcT>tcG		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							154	157	156					5																	68661172		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68661172A>C	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.393T>G	5.37:g.68661172A>C						TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Silent_p.S131S|TAF9_ENST00000506736.1_Silent_p.S131S	p.S131S	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	859	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	0					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.393T>G	CCDS4002.1																																																																																				0.443	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		9	165	0	0	0	1	0	9	165					C	68661172	A	C	68661172	2	2	96	1	0	0	0	0	0	0	0	1	15532	59	3	5		5	TAF9	5	68661172	Silent	SNP	A	TCGA-S7-A7WQ-01A-12D-A35I-08		68661172	112254088	7	1777										
CAGE1	285782	broad.mit.edu	37	chr6	7373788	7373788	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catttcagtcatgtacctttCctgtaaacacacataattag	4	10	2	0			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr6:7373788C>A	ENST00000512086.1	-	5	1466	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	CAGE1_ENST00000502583.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000509324.1_5'Flank			Q8TC20	CAGE1_HUMAN	cancer antigen 1	422										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATGTACCTTTCCTGTAAACAC	0.343																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1264-1266)Gaa>Taa		cancer antigen 1							107	94	98					6																	7373788		1859	4098	5957	SO:0001587	stop_gained	285782							g.chr6:7373788C>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1264G>T	6.37:g.7373788C>A	ENSP00000427583:p.Glu422*					CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E422*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.E422*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E286*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E422*	p.E422*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	1828	-	Ovarian(93;0.0418)		422					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	ENST00000512086.1	37	c.1264G>T		.	.	.	.	.	.	.	.	.	.	C	19.40	3.820381	0.71028	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	.	.	.	5.66	3.9	0.45041	.	0.087960	0.49305	D	0.000144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.3938	8.558	0.33494	0.0:0.8257:0.0:0.1743	.	.	.	.	X	422;422;422;286;422;422;422;434	.	ENSP00000296742:E286X	E	-	1	0	CAGE1	7318787	1.000000	0.71417	0.998000	0.56505	0.029000	0.11900	1.984000	0.40658	0.764000	0.33197	-0.229000	0.12294	GAA		0.343	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		6	37	1	0	1.6384e-10	1	1.87246e-10	6	37					A	7373788	C	A	7373788	4	1	96	1	0	0	0	0	0	1	0	0	2572	864	30	5	1401	5	CAGE1	6	7373788	Nonsense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08		7373788	163741279	8	1778										
SPON1	10418	broad.mit.edu	37	chr11	14284282	14284282	+	RNA	SNP	G	G	T													0	0	1	0	0	0	1	1	0	tgactgtgagctcaccgagtGgtcccagtggtcggaatgta							TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:14284282G>T	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							CTCACCGAGTGGTCCCAGTGG	0.517																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							67	68	68					11																	14284282		2064	4199	6263			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284282G>T																													11.37:g.14284282G>T										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2556	+									RNA	SNP	ENST00000534587.1	37			.	.	.	.	.	.	.	.	.	.	G	15.94	2.979953	0.53827	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	.	.	.	0.80722	D	1.000000	D	0.89917	1.0	D	0.87578	0.998	T	0.83158	-0.0100	7	0.59425	D	0.04	.	17.8376	0.88704	0.0:0.0:1.0:0.0	.	674	Q9HCB6	SPON1_HUMAN	L	673	.	ENSP00000309297:W673L	W	+	2	0	SPON1	14240858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.815000	0.96918	0.561000	0.74099	TGG		0.517	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			5	16	1	0	0.0293803	1	0.0293803	5	16					T	14284282	G	T	14284282	1	4	96	0	1	0	0	0	0	0	0	0	15081	1357	47	5		5	SPON1	11	14284282	RNA	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08		14284282	120722234	9	1779	12	2								
SPON1	10418	broad.mit.edu	37	chr11	14284285	14284285	+	RNA	SNP	C	C	G													0	0	1	0	0	0	1	1	0	ctgtgagctcaccgagtggtCccagtggtcggaatgtaaca							TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:14284285C>G	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							ACCGAGTGGTCCCAGTGGTCG	0.517																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							68	69	69					11																	14284285		2062	4201	6263			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284285C>G																													11.37:g.14284285C>G										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2559	+									RNA	SNP	ENST00000534587.1	37			.	.	.	.	.	.	.	.	.	.	C	15.86	2.957338	0.53400	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.93	5.93	0.95920	.	0.102137	0.64402	D	0.000002	T	0.79197	0.4405	.	.	.	0.48975	D	0.999735	D	0.76494	0.999	D	0.65323	0.934	T	0.80379	-0.1407	7	0.66056	D	0.02	.	17.8376	0.88704	0.0:1.0:0.0:0.0	.	675	Q9HCB6	SPON1_HUMAN	C	674	.	ENSP00000309297:S674C	S	+	2	0	SPON1	14240861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.775000	0.68915	2.815000	0.96918	0.561000	0.74099	TCC		0.517	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			5	15	0	0	0	1	0	5	15					G	14284285	C	G	14284285	1	3	96	0	1	0	0	0	0	0	0	0	15081	855	30	5		5	SPON1	11	14284285	RNA	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08	3	14284285	120722231	10	1780	12	2								
FADD	8772	broad.mit.edu	37	chr11	70052302	70052302	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agattggagaaggctggctcGtcagctcaaagtctcagaca	12	9	3	3			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:70052302G>C	ENST00000301838.4	+	2	647	c.350G>C	c.(349-351)cGt>cCt	p.R117P	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	117	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGGCTGGCTCGTCAGCTCAAA	0.498																																						ENST00000301838.4																			0				endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9						c.(349-351)cGt>cCt		Fas (TNFRSF6)-associated via death domain							83	68	73					11																	70052302		2200	4294	6494	SO:0001583	missense	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70052302G>C	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"Fas-associating protein with death domain", "Fas-associating death domain-containing protein", "mediator of receptor-induced toxicity", "growth-inhibiting gene 3 protein"	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.350G>C	11.37:g.70052302G>C	ENSP00000301838:p.Arg117Pro						p.R117P	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		2	647	+	Esophageal squamous(2;1.19e-45)		117			Death.		Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	c.350G>C	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914301	0.72983	.	.	ENSG00000168040	ENST00000301838	D	0.88354	-2.37	4.85	4.85	0.62838	Death (3);DEATH-like (3);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	M	0.89715	3.055	0.49213	D	0.999764	D	0.89917	1.0	D	0.91635	0.999	D	0.96443	0.9328	10	0.87932	D	0	-13.2903	16.7106	0.85384	0.0:0.0:1.0:0.0	.	117	Q13158	FADD_HUMAN	P	117	ENSP00000301838:R117P	ENSP00000301838:R117P	R	+	2	0	FADD	69729950	0.996000	0.38824	0.047000	0.18901	0.807000	0.45602	6.090000	0.71397	2.219000	0.72066	0.561000	0.74099	CGT		0.498	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		5	11	0	0	0	1	0	5	11					C	70052302	G	C	70052302	3	2	96	1	0	0	0	0	1	0	0	0	5364	1145	40	5	356	5	FADD	11	70052302	Missense_Mutation	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08	55768017	70052302	64954214	11	1781										
OR8A1	390275	broad.mit.edu	37	chr11	124440082	124440082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtttaacgaagagagcagacCtccagctccccctctttctc	7	15	2	2			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr11:124440082C>T	ENST00000284287.3	+	1	190	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	40					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GAGAGCAGACCTCCAGCTCCC	0.527																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(118-120)Ctc>Ttc		olfactory receptor, family 8, subfamily A, member 1							100	93	96					11																	124440082		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440082C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.118C>T	11.37:g.124440082C>T	ENSP00000284287:p.Leu40Phe						p.L40F	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	190	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	40					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.118C>T	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	9.712	1.157231	0.21454	.	.	ENSG00000196119	ENST00000284287	T	0.05382	3.45	5.08	2.23	0.28157	.	0.191207	0.25310	N	0.031598	T	0.09598	0.0236	M	0.79343	2.45	0.33286	D	0.562854	B	0.17268	0.021	B	0.23852	0.049	T	0.02581	-1.1138	10	0.56958	D	0.05	.	6.3012	0.21113	0.0:0.5939:0.172:0.2342	.	40	Q8NGG7	OR8A1_HUMAN	F	40	ENSP00000284287:L40F	ENSP00000284287:L40F	L	+	1	0	OR8A1	123945292	0.000000	0.05858	0.932000	0.37286	0.530000	0.34684	-1.101000	0.03336	0.326000	0.23384	0.585000	0.79938	CTC		0.527	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		23	13	0	0	0	1	0	23	13					T	124440082	C	T	124440082	3	4	96	1	0	0	0	0	1	0	0	0	11225	681	24	3	120	3	OR8A1	11	124440082	Missense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08	54387780	124440082	10566434	12	1782										
IGF1R	3480	broad.mit.edu	37	chr15	99486194	99486194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctatgagacagactattaccGgaaaggagggaaagggctgc	14	7	0	2			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr15:99486194G>A	ENST00000268035.6	+	19	4111	c.3500G>A	c.(3499-3501)cGg>cAg	p.R1167Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.R1166Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GACTATTACCGGAAAGGAGGG	0.537																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3499-3501)cGg>cAg		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						127	120	122					15																	99486194		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99486194G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3500G>A	15.37:g.99486194G>A	ENSP00000268035:p.Arg1167Gln					IGF1R_ENST00000558762.1_Missense_Mutation_p.R1166Q	p.R1167Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		19	4111	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1167			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3500G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	37	6.043351	0.97231	.	.	ENSG00000140443	ENST00000268035	D	0.82711	-1.64	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000077	D	0.88566	0.6471	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.89221	0.3571	10	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	1166;1167	C9J5X1;P08069	.;IGF1R_HUMAN	Q	1167	ENSP00000268035:R1167Q	ENSP00000268035:R1167Q	R	+	2	0	IGF1R	97303717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.835000	0.99442	2.646000	0.89796	0.655000	0.94253	CGG		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		4	71	0	0	0	1	0	4	71					A	99486194	G	A	99486194	3	1	96	1	0	0	0	0	1	0	0	0	7571	1116	39	2	3574	2	IGF1R	15	99486194	Missense_Mutation	SNP	G	TCGA-S7-A7WQ-01A-12D-A35I-08		99486194	3045198	13	1783										
JMJD8	339123	broad.mit.edu	37	chr16	733880	733880	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	ccgagttgtccgtgagtcccTgcaggatgacgggcctgacg					rs541598443		TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr16:733880delT	ENST00000293882.4	-	3	415	c.416delA	c.(415-417)cagfs	p.Q139fs	JMJD8_ENST00000454700.1_Frame_Shift_Del_p.Q109fs|JMJD8_ENST00000609261.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000562111.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000412368.2_Frame_Shift_Del_p.Q90fs|JMJD8_ENST00000562824.1_Frame_Shift_Del_p.Q39fs			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	139						extracellular vesicular exosome (GO:0070062)				breast(1)	1						CGTGAGTCCCTGCAGGATGAC	0.741																																						ENST00000293882.4																			0				breast(1)	1						c.(415-417)cgfs		jumonji domain containing 8							8	11	10					16																	733880		1944	4079	6023	SO:0001589	frameshift_variant	339123							g.chr16:733880delT		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.416delA	16.37:g.733880delT	ENSP00000293882:p.Gln139fs					JMJD8_ENST00000562824.1_Frame_Shift_Del_p.Q39fs|JMJD8_ENST00000562111.1_Frame_Shift_Del_p.Q69fs|JMJD8_ENST00000454700.1_Frame_Shift_Del_p.Q109fs|JMJD8_ENST00000412368.2_Frame_Shift_Del_p.Q90fs	p.Q139fs			Q96S16	JMJD8_HUMAN			3	415	-			139					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Frame_Shift_Del	DEL	ENST00000293882.4	37	c.416delA																																																																																					0.741	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		2	4						2	4	---	---	---	---	-	733880	T	-	733880	7	5	96	1	0	1	0	1	0	0	0	0	7956	1580	55	0	616	0	JMJD8	16	733880	Frame_Shift_Del	DEL	T	TCGA-S7-A7WQ-01A-12D-A35I-08		733880	89620873	14	1784										
ARHGEF15	22899	broad.mit.edu	37	chr17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccgtctgggtcaccctgcaCgcctctgctccccatggctg	11	18	3	0			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(385-387)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 15							68	70	69					17																	8215743		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215743C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.386C>T	17.37:g.8215743C>T	ENSP00000355026:p.Thr129Met					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	496	+			129			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.386C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.819827	0.02776	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71817	-0.6;-0.6	4.87	2.89	0.33648	.	2.365140	0.01590	N	0.021519	T	0.58018	0.2093	N	0.19112	0.55	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.41787	-0.9489	10	0.28530	T	0.3	0.2461	7.6286	0.28226	0.0:0.8068:0.0:0.1932	.	129;129	D3DTR7;O94989	.;ARHGF_HUMAN	M	129	ENSP00000355026:T129M;ENSP00000412505:T129M	ENSP00000355026:T129M	T	+	2	0	ARHGEF15	8156468	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.784000	0.26816	0.672000	0.31204	-0.263000	0.10527	ACG		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	61	0	0	0	1	0	10	61					T	8215743	C	T	8215743	3	4	96	1	0	0	0	0	1	0	0	0	898	536	19	1	388	1	ARHGEF15	17	8215743	Missense_Mutation	SNP	C	TCGA-S7-A7WQ-01A-12D-A35I-08		8215743	72979467	15	1785										
ZNF287	57336	broad.mit.edu	37	chr17	16456249	16456249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagatatgcctaaactcttTcccacattcttcacattcat	3	12	4	1			TCGA-S7-A7WQ-01A-12D-A35I-08	TCGA-S7-A7WQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26df2cdd-832c-42bf-9238-8e6ab68e05bd	9bfbaaff-29f2-4e99-8004-e96622a04dbb	g.chr17:16456249T>C	ENST00000395824.1	-	6	1824	c.1207A>G	c.(1207-1209)Aaa>Gaa	p.K403E	ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	396					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTAAACTCTTTCCCACATTCT	0.428																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1207-1209)Aaa>Gaa		zinc finger protein 287							191	174	180					17																	16456249		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456249T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1207A>G	17.37:g.16456249T>C	ENSP00000379168:p.Lys403Glu					ZNF287_ENST00000395825.3_Missense_Mutation_p.K403E	p.K403E			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1824	-			396					Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.1207A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385490	0.42308	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.27104	1.69;1.69	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000020	T	0.46580	0.1400	M	0.73430	2.235	0.41404	D	0.987697	D	0.62365	0.991	P	0.59221	0.854	T	0.50725	-0.8794	10	0.87932	D	0	.	13.5753	0.61870	0.0:0.0:0.0:1.0	.	396	Q9HBT7	ZN287_HUMAN	E	403	ENSP00000379169:K403E;ENSP00000379168:K403E	ENSP00000379168:K403E	K	-	1	0	ZNF287	16396974	1.000000	0.71417	0.995000	0.50966	0.603000	0.37013	4.002000	0.57053	2.371000	0.80710	0.533000	0.62120	AAA		0.428	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			14	90	0	0	0	1	0	14	90					C	16456249	T	C	16456249	3	2	96	1	0	0	0	0	1	0	0	0	17822	1792	62	4	1082	4	ZNF287	17	16456249	Missense_Mutation	SNP	T	TCGA-S7-A7WQ-01A-12D-A35I-08	8240506	16456249	64738961	16	1786										
PANK4	55229	broad.mit.edu	37	chr1	2440495	2440495	+	Frame_Shift_Del	DEL	G	G	-													0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	tgcggccagccccttatccaGgcggctttggggaggaagag							TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:2440495delG	ENST00000378466.3	-	19	2125	c.2113delC	c.(2113-2115)ctgfs	p.L705fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.L666fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	705					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCCTTATCCAGGCGGCTTTGG	0.642																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(2113-2115)tgfs		pantothenate kinase 4							21	19	20					1																	2440495		2197	4293	6490	SO:0001589	frameshift_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2440495delG	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2113delC	1.37:g.2440495delG	ENSP00000367727:p.Leu705fs					PANK4_ENST00000435556.3_Frame_Shift_Del_p.L666fs	p.L705fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	19	2125	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	705					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Frame_Shift_Del	DEL	ENST00000378466.3	37	c.2113delC	CCDS42.1																																																																																				0.642	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			2	4						2	4	---	---	---	---	-	2440495	G	-	2440495	7	5	97	1	0	1	0	1	0	0	0	0	11419	991	35	0	212	0	PANK4	1	2440495	Frame_Shift_Del	DEL	G	TCGA-S7-A7WR-01A-11D-A35I-08		2440495	246810126	1	1787										
PLEKHG5	57449	broad.mit.edu	37	chr1	6531115	6531115	+	Frame_Shift_Del	DEL	C	C	-													0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	catgtactccatgcagccctCctcctccatgcagtagcgga							TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:6531115delC	ENST00000400915.3	-	14	1561	c.1495delG	c.(1495-1497)gagfs	p.E499fs	PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377748.1_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E522fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E480fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E512fs	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	499	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCAGCCCTCCTCCTCCATG	0.701																																						ENST00000377748.1																			0				liver(1)	1						c.(1558-1560)agfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							25	23	24					1																	6531115		2201	4296	6497	SO:0001589	frameshift_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6531115delC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1495delG	1.37:g.6531115delC	ENSP00000383706:p.Glu499fs					PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E522fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E499fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E512fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E480fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E443fs	p.E520fs	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	14	2055	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	499			DH.		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Frame_Shift_Del	DEL	ENST00000400915.3	37	c.1558delG	CCDS41241.1																																																																																				0.701	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		2	4						2	4	---	---	---	---	-	6531115	C	-	6531115	7	5	97	1	0	1	0	1	0	0	0	0	12073	864	30	0	1729	0	PLEKHG5	1	6531115	Frame_Shift_Del	DEL	C	TCGA-S7-A7WR-01A-11D-A35I-08	4090620	6531115	242719506	2	1788										
PDE4DIP	9659	broad.mit.edu	37	chr1	144856986	144856986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	ggcaaaggagccatcagtagCatcaccctctagcttgggag	12	11	3	0			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr1:144856986C>A	ENST00000369354.3	-	40	6688	c.6499G>T	c.(6499-6501)Gct>Tct	p.A2167S	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2303S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2252S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2167					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCATCAGTAGCATCACCCTCT	0.473			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6907-6909)Gct>Tct		phosphodiesterase 4D interacting protein							85	80	81					1																	144856986		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856986C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6499G>T	1.37:g.144856986C>A	ENSP00000358360:p.Ala2167Ser					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2252S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2167S	p.A2303S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	6945	-			2167					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6907G>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.19|19.19	3.780128|3.780128	0.70222|0.70222	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01963|.	4.53;4.57;4.57;4.64;4.58|.	4.48|4.48	3.49|3.49	0.39957|0.39957	.|.	.|.	.|.	.|.	.|.	T|T	0.47116|0.47116	0.1428|0.1428	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	P;D|.	0.71674|.	0.873;0.998|.	P;D|.	0.77004|.	0.619;0.989|.	T|T	0.41716|0.41716	-0.9493|-0.9493	8|5	.|.	.|.	.|.	.|.	11.2416|11.2416	0.48972|0.48972	0.1837:0.8163:0.0:0.0|0.1837:0.8163:0.0:0.0	.|.	2061;2167|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	S|I	2061;2167;2167;2252;2303|243	ENSP00000327209:A2061S;ENSP00000358360:A2167S;ENSP00000358363:A2167S;ENSP00000435654:A2252S;ENSP00000358366:A2303S|.	.|.	A|M	-|-	1|3	0|0	PDE4DIP|PDE4DIP	143568343|143568343	0.996000|0.996000	0.38824|0.38824	0.933000|0.933000	0.37362|0.37362	0.944000|0.944000	0.59088|0.59088	3.593000|3.593000	0.54001|0.54001	2.237000|2.237000	0.73441|0.73441	0.449000|0.449000	0.29647|0.29647	GCT|ATG		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	71	1	0	6.40141e-05	1	7.46831e-05	6	71					A	144856986	C	A	144856986	3	1	97	1	0	0	0	0	1	0	0	0	11643	710	25	5	561	5	PDE4DIP	1	144856986	Missense_Mutation	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08	138325871	144856986	104393635	3	1789										
RGPD1	729857	broad.mit.edu	37	chr2	88091594	88091595	+	Splice_Site	INS	-	-	A													0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	tggtgttttgggagaatactINSaaaaaaaaaaataaaaataa					rs370321845		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr2:88091594_88091595insA	ENST00000398146.3	-	17	2602		c.e17-2		RGPD2_ENST00000327544.6_Splice_Site|RGPD2_ENST00000420840.2_Splice_Site			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2						protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						GGGAGAATACtaaaaaaaaaaa	0.312																																						ENST00000398146.3																			0				breast(1)|pancreas(1)	2						c.e17-2		RANBP2-like and GRIP domain containing 2																																				SO:0001630	splice_region_variant	729857				intracellular transport		binding	g.chr2:88091594_88091595insA		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"Tetratricopeptide (TTC) repeat domain containing"	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.2380-2->T	2.37:g.88091605_88091605dupA						RGPD2_ENST00000420840.2_Splice_Site|RGPD2_ENST00000327544.6_Splice_Site				Q68DN6	RGPD1_HUMAN			17	2602	-								P0C839|Q68DN6|Q6V1X0	Splice_Site	INS	ENST00000398146.3	37		CCDS42710.2																																																																																				0.312	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330534.2	NM_001078170	Intron	2	4						2	4	---	---	---	---	A	88091595	-	A	88091594	8	5	97	1	0	1	1	0	0	0	1	0	13285	1536	53	0	8259	0	RGPD1	2	88091594	Splice_Site	INS	-	TCGA-S7-A7WR-01A-11D-A35I-08		88091594	155107779	4	1790										
DNAH8	1769	broad.mit.edu	37	chr6	38841074	38841074	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	ctgacactgtatgagaaagtCtttgaagatacatacacata	7	7	1	4			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr6:38841074C>T	ENST00000359357.3	+	50	7145	c.6891C>T	c.(6889-6891)gtC>gtT	p.V2297V	DNAH8_ENST00000449981.2_Silent_p.V2514V|DNAH8_ENST00000441566.1_Silent_p.V2261V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2297	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGAGAAAGTCTTTGAAGATA	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6889-6891)gtC>gtT		dynein, axonemal, heavy chain 8							96	87	90					6																	38841074		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38841074C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6891C>T	6.37:g.38841074C>T						DNAH8_ENST00000441566.1_Silent_p.V2261V|DNAH8_ENST00000449981.2_Silent_p.V2514V	p.V2297V							50	7145	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6891C>T																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	95	0	0	0	1	0	5	95					T	38841074	C	T	38841074	2	4	97	1	0	0	0	0	0	0	0	1	4607	900	32	3		3	DNAH8	6	38841074	Silent	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08		38841074	132273993	5	1791										
KIAA1009	22832	broad.mit.edu	37	chr6	84871605	84871605	+	Frame_Shift_Del	DEL	T	T	-													0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	tttatgtgtttcttctaaaaTttttatttcatataatttct							TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr6:84871605delT	ENST00000403245.3	-	20	2650	c.2536delA	c.(2536-2538)attfs	p.I846fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.I770fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTTCTAAAATTTTTATTTCA	0.294																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2536-2538)ttfs		KIAA1009							55	54	54					6																	84871605		2200	4294	6494	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84871605delT																												ENST00000403245.3:c.2536delA	6.37:g.84871605delT	ENSP00000385215:p.Ile846fs					KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.I770fs|KIAA1009_ENST00000461137.1_5'UTR	p.I846fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	20	2650	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	846						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.2536delA	CCDS34494.2																																																																																				0.294	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			2	4						2	4	---	---	---	---	-	84871605	T	-	84871605	7	5	97	1	0	1	0	1	0	0	0	0	8203	1493	52	0	1707	0	KIAA1009	6	84871605	Frame_Shift_Del	DEL	T	TCGA-S7-A7WR-01A-11D-A35I-08	46030531	84871605	86243462	6	1792										
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		26	56	1	0	2.24059e-21	1	2.76779e-21	26	56					T	533875	G	T	533875	3	4	97	1	0	0	0	0	1	0	0	0	7348	1357	47	5	467	5	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-S7-A7WR-01A-11D-A35I-08		533875	134472641	7	1793										
KRT71	112802	broad.mit.edu	37	chr12	52943841	52943841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	gtagtcctccactacgtcccGcacattcctcagctccgagt	7	17	1	0			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr12:52943841G>A	ENST00000267119.5	-	2	697	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	210	Coil 1B.|Rod.			R -> Q (in Ref. 5; AAI03919). {ECO:0000305}.	hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACTACGTCCCGCACATTCCTC	0.622																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(628-630)Cgg>Tgg		keratin 71							179	160	167					12																	52943841		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52943841G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"-", "Intermediate filaments type II, keratins (basic)"	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.628C>T	12.37:g.52943841G>A	ENSP00000267119:p.Arg210Trp						p.R210W	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	2	697	-			210	R -> Q (in Ref. 5; AAI03919).		Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.628C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348855	0.41599	.	.	ENSG00000139648	ENST00000267119	D	0.91295	-2.82	5.61	4.71	0.59529	Filament (1);	0.000000	0.42294	D	0.000731	D	0.94751	0.8306	M	0.83603	2.65	0.37548	D	0.918593	D	0.89917	1.0	D	0.72338	0.977	D	0.95998	0.8991	10	0.87932	D	0	.	10.6686	0.45745	0.0686:0.0:0.7983:0.1331	.	210	Q3SY84	K2C71_HUMAN	W	210	ENSP00000267119:R210W	ENSP00000267119:R210W	R	-	1	2	KRT71	51230108	0.000000	0.05858	0.478000	0.27316	0.037000	0.13140	0.599000	0.24089	1.493000	0.48517	0.561000	0.74099	CGG		0.622	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		4	111	0	0	0	1	0	4	111					A	52943841	G	A	52943841	3	1	97	1	0	0	0	0	1	0	0	0	8484	1086	38	1	975	1	KRT71	12	52943841	Missense_Mutation	SNP	G	TCGA-S7-A7WR-01A-11D-A35I-08		52943841	80908054	8	1794										
LPCAT2	54947	broad.mit.edu	37	chr16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	tatttgtctttcagtttatgCcagttcaagtaccaaatgat	6	7	3	1			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr16:55579653C>T	ENST00000262134.5	+	9	1043	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	287					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAGTTTATGCCAGTTCAAGT	0.289																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(859-861)Cca>Tca		lysophosphatidylcholine acyltransferase 2							95	95	95					16																	55579653		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579653C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.859C>T	16.37:g.55579653C>T	ENSP00000262134:p.Pro287Ser						p.P287S	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			9	1043	+			287					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.859C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935213	0.92458	.	.	ENSG00000087253	ENST00000262134	D	0.93906	-3.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.93898	3.47	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.97520	1.0072	10	0.87932	D	0	-16.5825	20.1358	0.98028	0.0:1.0:0.0:0.0	.	287	Q7L5N7	PCAT2_HUMAN	S	287	ENSP00000262134:P287S	ENSP00000262134:P287S	P	+	1	0	LPCAT2	54137154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.876000	0.63079	2.865000	0.98341	0.655000	0.94253	CCA		0.289	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		4	115	0	0	0	1	0	4	115					T	55579653	C	T	55579653	3	4	97	1	0	0	0	0	1	0	0	0	8911	739	26	3	893	3	LPCAT2	16	55579653	Missense_Mutation	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08		55579653	34775100	9	1795										
RPAIN	84268	broad.mit.edu	37	chr17	5331589	5331589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	acctgtggttggttttattcCcaccttgatagaaataatga	8	7	0	3			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr17:5331589C>A	ENST00000405578.4	+	6	699	c.688C>A	c.(688-690)Cca>Aca	p.P230T	RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000381208.5_Intron|CTC-524C5.2_ENST00000575890.1_RNA	NM_001160243.1	NP_001153715.1	Q86UA6	RIP_HUMAN	RPA interacting protein	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						GGTTTTATTCCCACCTTGATA	0.408																																						ENST00000405578.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(688-690)Cca>Aca		RPA interacting protein							110	107	107					17																	5331589		692	1591	2283	SO:0001583	missense	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding	g.chr17:5331589C>A	AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000405578.4:c.688C>A	17.37:g.5331589C>A	ENSP00000385814:p.Pro230Thr					RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA	p.P230T	NM_001160243.1	NP_001153715.1	Q86UA6	RIP_HUMAN			6	699	+			0					B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	ENST00000405578.4	37	c.688C>A	CCDS54075.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445791	0.25987	.	.	ENSG00000129197	ENST00000405578	T	0.47177	0.85	3.71	2.73	0.32206	.	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.19775	N	0.999958	P;P	0.40431	0.573;0.717	B;B	0.41088	0.19;0.347	T	0.05683	-1.0870	8	.	.	.	.	6.3886	0.21574	0.0:0.8636:0.0:0.1364	.	230;230	E9PES3;B4DI36	.;.	T	230	ENSP00000385814:P230T	.	P	+	1	0	RPAIN	5272313	0.011000	0.17503	0.050000	0.19076	0.030000	0.12068	1.256000	0.32921	1.119000	0.41883	0.563000	0.77884	CCA		0.408	RPAIN-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439383.1	NM_001033002		3	16	1	0	1	1	1	3	16					A	5331589	C	A	5331589	3	1	97	1	0	0	0	0	1	0	0	0	13540	623	22	5	710	5	RPAIN	17	5331589	Missense_Mutation	SNP	C	TCGA-S7-A7WR-01A-11D-A35I-08		5331589	75863621	10	1796										
FFAR2	2867	broad.mit.edu	37	chr19	35940790	35940790	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	1	1	2.08823529411765	0	2.7843137254902	1	1	0	acgctggccgacctcctcctGctgctgctgctgcccttcaa	9	18	1	0			TCGA-S7-A7WR-01A-11D-A35I-08	TCGA-S7-A7WR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77e0c065-c669-4b66-bae6-bc13980ef055	c9c68651-013c-4a6c-819c-e62f10df5007	g.chr19:35940790G>C	ENST00000599180.2	+	2	254	c.174G>C	c.(172-174)ctG>ctC	p.L58L	FFAR2_ENST00000246549.2_Silent_p.L58L|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	58					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)ctG>ctC		free fatty acid receptor 2							39	34	36					19																	35940790		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940790G>C	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.174G>C	19.37:g.35940790G>C						FFAR2_ENST00000246549.2_Silent_p.L58L|FFAR2_ENST00000601590.1_Intron	p.L58L			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		58					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.174G>C	CCDS12461.1																																																																																				0.647	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		3	34	0	0	0	1	0	3	34					C	35940790	G	C	35940790	2	2	97	1	0	0	0	0	0	0	0	1	5828	1306	46	5		5	FFAR2	19	35940790	Silent	SNP	G	TCGA-S7-A7WR-01A-11D-A35I-08		35940790	23188193	11	1797										
CSDE1	7812	broad.mit.edu	37	chr1	115272878	115272878	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	tttggattatgcaaaacctaCcttctctttgcctttatttg	5	9	1	0			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:115272878C>T	ENST00000358528.4	-	12	1783		c.e12+1		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000438362.2_Splice_Site	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAAACCTACCTTCTCTTTG	0.368																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e12+1		cold shock domain containing E1, RNA-binding							138	142	141					1																	115272878		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272878C>T		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1356+1G>A	1.37:g.115272878C>T						CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site		NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1873	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37		CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557140	0.86231	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSDE1	115074401	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.448000	0.80631	2.666000	0.90696	0.655000	0.94253	.		0.368	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Intron	10	71	0	0	0	1	0	10	71					T	115272878	C	T	115272878	5	4	98	1	0	0	0	0	0	0	1	0	3929	521	18	3	1075	3	CSDE1	1	115272878	Splice_Site	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		115272878	133977743	1	1798										
RPTN	126638	broad.mit.edu	37	chr1	152127903	152127903	+	Frame_Shift_Del	DEL	G	G	-													0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	tctgtctgtctgaccgtagtGggaactctggccttgtctgt							TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:152127903delG	ENST00000316073.3	-	3	1736	c.1672delC	c.(1672-1674)cacfs	p.H558fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	558	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H558D(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCGTAGTGGGAACTCTGG	0.507																																						ENST00000316073.3																			1	Substitution - Missense(1)	p.H558D(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1672-1674)acfs		repetin							675	601	624					1																	152127903		1568	3582	5150	SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127903delG	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1672delC	1.37:g.152127903delG	ENSP00000317895:p.His558fs						p.H558fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1736	-			558			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1672delC	CCDS41397.1																																																																																				0.507	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	810						7	810	---	---	---	---	-	152127903	G	-	152127903	7	5	98	1	0	1	0	1	0	0	0	0	13664	1348	47	0	686	0	RPTN	1	152127903	Frame_Shift_Del	DEL	G	TCGA-S7-A7WT-01A-12D-A35I-08	36855025	152127903	97122718	2	1799										
ASH1L	55870	broad.mit.edu	37	chr1	155340331	155340340	+	Frame_Shift_Del	DEL	TTGATGAATC	TTGATGAATC	-													0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	aatttgggtcacagctatggTtgatgaatcgggcctcattt							TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:155340331_155340340delTTGATGAATC	ENST00000368346.3	-	12	7295_7304	c.6656_6665delGATTCATCAA	c.(6655-6666)cgattcatcaacfs	p.RFIN2219fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.RFIN2214fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2219	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACAGCTATGGTTGATGAATCGGGCCTCATT	0.448																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(6655-6666)ccfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155340331_155340340delTTGATGAATC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6656_6665delGATTCATCAA	1.37:g.155340331_155340340delTTGATGAATC	ENSP00000357330:p.Arg2219fs					ASH1L_ENST00000392403.3_Frame_Shift_Del_p.RFIN2214fs	p.RFIN2219fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		12	7295_7304	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2219			SET.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.6656_6665delGATTCATCAA																																																																																					0.448	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		15	203						15	203	---	---	---	---	-	155340340	TTGATGAATC	-	155340331	7	5	98	1	0	1	0	1	0	0	0	0	1041	1725	60	0	2312	0	ASH1L	1	155340331	Frame_Shift_Del	DEL	TTGATGAATC	TCGA-S7-A7WT-01A-12D-A35I-08	3212428	155340331	93910290	3	1800										
ITLN2	142683	broad.mit.edu	37	chr1	160920865	160920865	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gctcgtggccgcctctgcagAtccaaaggtgttgtagttgg	14	10	1	1	rs141731306		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr1:160920865A>T	ENST00000368029.3	-	4	466	c.409T>A	c.(409-411)Tct>Act	p.S137T	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	137	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCTGCAGATCCAAAGGTG	0.597																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(409-411)Tct>Act		intelectin 2							205	172	183					1																	160920865		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920865A>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"Fibrinogen C domain containing"	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.409T>A	1.37:g.160920865A>T	ENSP00000357008:p.Ser137Thr						p.S137T	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	466	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		137			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.409T>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653491	0.29425	.	.	ENSG00000158764	ENST00000368029	T	0.16324	2.35	4.09	1.39	0.22231	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.366899	0.20435	U	0.092385	T	0.02848	0.0085	L	0.31804	0.96	0.20489	N	0.999893	B;B	0.23128	0.037;0.08	B;B	0.24006	0.034;0.05	T	0.44892	-0.9298	10	0.22706	T	0.39	-7.3603	3.3526	0.07158	0.4354:0.0:0.1068:0.4579	.	136;137	A6NI51;Q8WWU7	.;ITLN2_HUMAN	T	137	ENSP00000357008:S137T	ENSP00000357008:S137T	S	-	1	0	ITLN2	159187489	0.942000	0.31987	0.999000	0.59377	0.973000	0.67179	0.433000	0.21477	0.096000	0.17463	0.459000	0.35465	TCT		0.597	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		13	97	0	0	0	1	0	13	97					T	160920865	A	T	160920865	3	4	98	1	0	0	0	0	1	0	0	0	7911	333	12	5	588	5	ITLN2	1	160920865	Missense_Mutation	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08	5580534	160920865	88329756	4	1801										
PSD4	23550	broad.mit.edu	37	chr2	113940295	113940295	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	aggacgggctggagccttgcCaggagcaaacccgggccact	15	13	0	0			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:113940295C>G	ENST00000245796.6	+	2	457	c.262C>G	c.(262-264)Cag>Gag	p.Q88E	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Missense_Mutation_p.Q88E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	88					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCCTTGCCAGGAGCAAAC	0.637																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(262-264)Cag>Gag		pleckstrin and Sec7 domain containing 4							48	51	50					2																	113940295		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940295C>G	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.262C>G	2.37:g.113940295C>G	ENSP00000245796:p.Gln88Glu					PSD4_ENST00000441564.2_Missense_Mutation_p.Q88E|PSD4_ENST00000465917.1_3'UTR	p.Q88E	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	457	+			88					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.262C>G	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.886429	0.00527	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.13420	2.81;2.59	3.15	-6.31	0.02001	.	3.902190	0.00649	N	0.000541	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39461	-0.9613	10	0.06099	T	0.92	.	10.8558	0.46798	0.1949:0.6668:0.1383:0.0	.	88;88	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	E	88	ENSP00000245796:Q88E;ENSP00000413997:Q88E	ENSP00000245796:Q88E	Q	+	1	0	PSD4	113656766	0.691000	0.27709	0.000000	0.03702	0.014000	0.08584	0.709000	0.25734	-2.334000	0.00630	-1.086000	0.02197	CAG		0.637	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		7	45	0	0	0	1	0	7	45					G	113940295	C	G	113940295	3	3	98	1	0	0	0	0	1	0	0	0	12649	595	21	5	264	5	PSD4	2	113940295	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		113940295	129259078	5	1802										
TTN	7273	broad.mit.edu	37	chr2	179418227	179418227	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	aatcaaaccagtaggtacatAccaagtatatctttagcttg	6	8	2	0			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:179418227A>T	ENST00000591111.1	-	284	84805		c.e284+1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGTACATACCAAGTATAT	0.343																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e334+1		titin							88	86	87					2																	179418227		1845	4088	5933	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418227A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84580+1T>A	2.37:g.179418227A>T						TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89728	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	A	17.30	3.354156	0.61293	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0863	0.81056	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179126473	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	.		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	12	71	0	0	0	1	0	12	71					T	179418227	A	T	179418227	5	4	98	1	0	0	0	0	0	0	1	0	16732	405	14	5	18590	5	TTN	2	179418227	Splice_Site	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08	65477932	179418227	63781146	6	1803										
CALCRL	10203	broad.mit.edu	37	chr2	188211041	188211041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	ttgttgacactgtgtaagacGcactacgaagagcttctgag	11	8	1	4			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:188211041G>A	ENST00000409998.1	-	16	2037	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V			Q16602	CALRL_HUMAN	calcitonin receptor-like	419					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGTGTAAGACGCACTACGAAG	0.373																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(1255-1257)gCg>gTg		calcitonin receptor-like							128	120	123					2																	188211041		2203	4299	6502	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188211041G>A	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"GPCR / Class B : Calcitonin receptors"	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1256C>T	2.37:g.188211041G>A	ENSP00000386972:p.Ala419Val					CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V|CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	p.A419V			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		16	2037	-			419					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.1256C>T	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291314	0.59976	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.64260	-0.09;-0.09;-0.09	5.7	5.7	0.88788	.	0.097167	0.43416	D	0.000572	T	0.51075	0.1653	L	0.31926	0.97	0.54753	D	0.99998	B	0.16166	0.016	B	0.11329	0.006	T	0.42361	-0.9456	10	0.28530	T	0.3	.	14.1147	0.65146	0.074:0.0:0.926:0.0	.	419	Q16602	CALRL_HUMAN	V	419	ENSP00000376177:A419V;ENSP00000386972:A419V;ENSP00000387190:A419V	ENSP00000376177:A419V	A	-	2	0	CALCRL	187919286	1.000000	0.71417	0.994000	0.49952	0.894000	0.52154	7.623000	0.83113	2.673000	0.90976	0.655000	0.94253	GCG		0.373	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		10	73	0	0	0	1	0	10	73					A	188211041	G	A	188211041	3	1	98	1	0	0	0	0	1	0	0	0	2580	1087	38	1	133	1	CALCRL	2	188211041	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08	8792814	188211041	54988332	7	1804										
ALS2	57679	broad.mit.edu	37	chr2	202606482	202606482	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	cccatgaaggaagctgctcaAtgaggctccatgctgaccaa	10	12	1	3			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr2:202606482A>G	ENST00000264276.6	-	11	2638	c.2266T>C	c.(2266-2268)Ttg>Ctg	p.L756L	ALS2_ENST00000457679.2_Silent_p.L68L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	756	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAGCTGCTCAATGAGGCTCCA	0.473																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(2266-2268)Ttg>Ctg		amyotrophic lateral sclerosis 2 (juvenile)							66	65	66					2																	202606482		1956	4180	6136	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202606482A>G	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2266T>C	2.37:g.202606482A>G						ALS2_ENST00000457679.2_Silent_p.L68L	p.L756L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			11	2638	-			756			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.2266T>C	CCDS42800.1																																																																																				0.473	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	35	0	0	0	1	0	5	35					G	202606482	A	G	202606482	2	3	98	1	0	0	0	0	0	0	0	1	550	98	4	4		4	ALS2	2	202606482	Silent	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08	14395441	202606482	40592891	8	1805										
CCR4	1233	broad.mit.edu	37	chr3	32995645	32995659	+	In_Frame_Del	DEL	TCTTTGCCGTGGTGG	TCTTTGCCGTGGTGG	-													0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gaacaaggcggtgaagatgaTctttgccgtggtggtcctct					rs147951720|rs147092765	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr3:32995645_32995659delTCTTTGCCGTGGTGG	ENST00000330953.5	+	2	899_913	c.731_745delTCTTTGCCGTGGTGG	c.(730-747)atctttgccgtggtggtc>atc	p.FAVVV245del		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	245					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GTGAAGATGATCTTTGCCGTGGTGGTCCTCTTCCT	0.47																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(730-747)atc>a		chemokine (C-C motif) receptor 4																																				SO:0001651	inframe_deletion	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995645_32995659delTCTTTGCCGTGGTGG	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.731_745delTCTTTGCCGTGGTGG	3.37:g.32995645_32995659delTCTTTGCCGTGGTGG	ENSP00000332659:p.Phe245_Val249del						p.IFAVVV244del	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	899_913	+			244					Q9ULY6|Q9ULY7	In_Frame_Del	DEL	ENST00000330953.5	37	c.731_745delTCTTTGCCGTGGTGG	CCDS2656.1																																																																																				0.47	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			17	23						17	23	---	---	---	---	-	32995659	TCTTTGCCGTGGTGG	-	32995645	7	5	98	1	0	1	0	1	0	0	0	0	2943	1435	50	0	733	0	CCR4	3	32995645	In_Frame_Del	DEL	TCTTTGCCGTGGTGG	TCGA-S7-A7WT-01A-12D-A35I-08		32995645	165026785	9	1806										
RPL34	6164	broad.mit.edu	37	chr4	109543293	109543293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	tggtaatagaattgtttaccTttataccaagaaggttggga	10	4	0	2			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr4:109543293T>G	ENST00000394668.2	+	3	164	c.98T>G	c.(97-99)cTt>cGt	p.L33R	RPL34_ENST00000506397.1_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R|RPL34-AS1_ENST00000507248.1_lincRNA|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R|RPL34_ENST00000394667.3_Missense_Mutation_p.L33R	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	33					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		ATTGTTTACCTTTATACCAAG	0.413																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(97-99)cTt>cGt		ribosomal protein L34							65	71	69					4																	109543293		2203	4300	6503	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543293T>G	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"L ribosomal proteins"	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.98T>G	4.37:g.109543293T>G	ENSP00000378163:p.Leu33Arg					RPL34_ENST00000394667.3_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R|RPL34_ENST00000506397.1_Missense_Mutation_p.L33R	p.L33R	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	3	164	+		Hepatocellular(203;0.217)	33					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.98T>G	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440189	0.83993	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	L	0.58302	1.8	0.80722	D	1	D	0.63046	0.992	D	0.67382	0.951	T	0.77405	-0.2600	9	0.66056	D	0.02	.	15.077	0.72084	0.0:0.0:0.0:1.0	.	33	P49207	RL34_HUMAN	R	33	.	ENSP00000378160:L33R	L	+	2	0	RPL34	109762742	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.647000	0.83462	2.092000	0.63282	0.533000	0.62120	CTT		0.413	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		5	74	0	0	0	1	0	5	74					G	109543293	T	G	109543293	3	3	98	1	0	0	0	0	1	0	0	0	13583	1609	56	5	104	5	RPL34	4	109543293	Missense_Mutation	SNP	T	TCGA-S7-A7WT-01A-12D-A35I-08		109543293	81610983	10	1807										
APC	324	broad.mit.edu	37	chr5	112176079	112176079	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	aaagcaaaaaagccagcccaGactgcttcaaaattacctcc	5	13	1	1			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr5:112176079G>C	ENST00000457016.1	+	16	5168	c.4788G>C	c.(4786-4788)caG>caC	p.Q1596H	APC_ENST00000508376.2_Missense_Mutation_p.Q1596H|APC_ENST00000257430.4_Missense_Mutation_p.Q1596H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1596	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCCAGCCCAGACTGCTTCAA	0.403		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4786-4788)caG>caC		adenomatous polyposis coli							119	125	123					5																	112176079		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176079G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4788G>C	5.37:g.112176079G>C	ENSP00000413133:p.Gln1596His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.Q1596H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1596H	p.Q1596H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5168	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1596			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4788G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652420	0.47362	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90069	-2.61;-2.61;-2.61	6.16	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	N	0.19112	0.55	0.34135	D	0.665766	D;D	0.67145	0.996;0.996	P;P	0.59703	0.862;0.862	D	0.85817	0.1383	9	.	.	.	-8.0613	7.1739	0.25734	0.2251:0.0:0.7749:0.0	.	1598;1596	Q4LE70;P25054	.;APC_HUMAN	H	1596	ENSP00000413133:Q1596H;ENSP00000257430:Q1596H;ENSP00000427089:Q1596H	.	Q	+	3	2	APC	112203978	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.790000	0.47821	2.937000	0.99478	0.650000	0.86243	CAG		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		28	130	0	0	0	1	0	28	130					C	112176079	G	C	112176079	3	2	98	1	0	0	0	0	1	0	0	0	763	933	33	5	4846	5	APC	5	112176079	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		112176079	68739181	11	1808										
MDC1	9656	broad.mit.edu	37	chr6	30680011	30680011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gtccccatgcagaggccaggCttcctctagagataccacaa	9	14	1	2			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:30680011C>T	ENST00000376406.3	-	5	2355	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T	MDC1_ENST00000376405.2_Missense_Mutation_p.A570T|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	570					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAGGCCAGGCTTCCTCTAGA	0.507								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1708-1710)Gcc>Acc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							62	61	61					6																	30680011		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680011C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1708G>A	6.37:g.30680011C>T	ENSP00000365588:p.Ala570Thr					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A570T	p.A570T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2355	-			570					A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1708G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589901	0.28357	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.03181	4.11;4.02	4.27	2.45	0.29901	.	0.747973	0.10971	N	0.613820	T	0.02047	0.0064	L	0.56769	1.78	0.09310	N	1	B;B;P;B	0.47409	0.244;0.037;0.895;0.037	B;B;P;B	0.44518	0.082;0.033;0.452;0.018	T	0.45659	-0.9246	10	0.52906	T	0.07	0.0043	5.5226	0.16941	0.0:0.6851:0.2038:0.1111	.	570;442;570;570	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	T	570;570;570;442	ENSP00000365588:A570T;ENSP00000365587:A570T	ENSP00000365587:A570T	A	-	1	0	MDC1	30787990	0.000000	0.05858	0.009000	0.14445	0.033000	0.12548	-0.210000	0.09345	0.429000	0.26202	0.462000	0.41574	GCC		0.507	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		7	64	0	0	0	1	0	7	64					T	30680011	C	T	30680011	3	4	98	1	0	0	0	0	1	0	0	0	9403	797	28	3	4605	3	MDC1	6	30680011	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		30680011	140435056	12	1809										
DST	667	broad.mit.edu	37	chr6	56504748	56504748	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	tcactgattttagcttctttGagactagattcaaattcttc	5	8	4	3			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr6:56504748G>A	ENST00000361203.3	-	15	1972	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	DST_ENST00000421834.2_Silent_p.L655L|DST_ENST00000244364.6_Silent_p.L329L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000370765.6_Silent_p.L329L|DST_ENST00000370754.5_Silent_p.L833L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000518935.1_Silent_p.L329L			Q03001	DYST_HUMAN	dystonin	655					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGCTTCTTTGAGACTAGATT	0.323																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(2497-2499)ctC>ctT		dystonin							52	56	55					6																	56504748		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504748G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1965C>T	6.37:g.56504748G>A						DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000361203.3_Silent_p.L655L|DST_ENST00000370765.6_Silent_p.L329L|DST_ENST00000421834.2_Silent_p.L655L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000518935.1_Silent_p.L329L|DST_ENST00000244364.6_Silent_p.L329L	p.L833L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		18	2498	-	Lung NSC(77;0.103)		655					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.2499C>T																																																																																					0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		23	104	0	0	0	1	0	23	104					A	56504748	G	A	56504748	2	1	98	1	0	0	0	0	0	0	0	1	4783	1277	45	3		3	DST	6	56504748	Silent	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08	25824737	56504748	114610319	13	1810										
THSD7A	221981	broad.mit.edu	37	chr7	11514012	11514012	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gcacacagatgacttttcttGtctgcatgccgacagagcag	10	11	2	3			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:11514012G>C	ENST00000423059.4	-	8	2452	c.2201C>G	c.(2200-2202)aCa>aGa	p.T734R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	734	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACTTTTCTTGTCTGCATGCC	0.512										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2200-2202)aCa>aGa		thrombospondin, type I, domain containing 7A							106	105	105					7																	11514012		2023	4194	6217	SO:0001583	missense	221981					integral to membrane		g.chr7:11514012G>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2201C>G	7.37:g.11514012G>C	ENSP00000406482:p.Thr734Arg	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.T734R	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2452	-			734			TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2201C>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342489	0.81911	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61510	0.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	L	0.45228	1.405	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.64223	-0.6458	10	0.26408	T	0.33	.	18.9303	0.92563	0.0:0.0:1.0:0.0	.	734	Q9UPZ6	THS7A_HUMAN	R	734	ENSP00000406482:T734R	ENSP00000262042:T734R	T	-	2	0	THSD7A	11480537	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.813000	0.99286	2.550000	0.86006	0.563000	0.77884	ACA		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		3	62	0	0	0	1	0	3	62					C	11514012	G	C	11514012	3	2	98	1	0	0	0	0	1	0	0	0	15876	1377	48	5	2852	5	THSD7A	7	11514012	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		11514012	147624651	14	1811										
MUC17	140453	broad.mit.edu	37	chr7	100682737	100682737	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	cctacaactgctgaaggtagCagcatgccaacctcaactcc	7	15	1	1	rs71286275		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:100682737C>A	ENST00000306151.4	+	3	8104	c.8040C>A	c.(8038-8040)agC>agA	p.S2680R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2680	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGGTAGCAGCATGCCAA	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8038-8040)agC>agA		mucin 17, cell surface associated							227	231	230					7																	100682737		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682737C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8040C>A	7.37:g.100682737C>A	ENSP00000302716:p.Ser2680Arg						p.S2680R	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8104	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2680			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8040C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.968	-0.437304	0.04636	.	.	ENSG00000169876	ENST00000306151	T	0.03635	3.86	0.827	0.827	0.18835	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.51140	-0.8743	9	0.24483	T	0.36	.	7.6253	0.28208	0.0:1.0:0.0:0.0	.	2680	Q685J3	MUC17_HUMAN	R	2680	ENSP00000302716:S2680R	ENSP00000302716:S2680R	S	+	3	2	MUC17	100469457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.688000	0.05150	0.750000	0.32877	0.134000	0.15878	AGC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	338	1	0	7.48243e-07	1	8.14264e-07	9	338					A	100682737	C	A	100682737	3	1	98	1	0	0	0	0	1	0	0	0	9974	709	25	5	8050	5	MUC17	7	100682737	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08	89168725	100682737	58455926	15	1812										
SLC4A2	6522	broad.mit.edu	37	chr7	150768535	150768535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gatgatccccttcggcggacGgggcggccctttggggggct	18	12	0	1	rs531007948	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr7:150768535G>A	ENST00000485713.1	+	14	3074	c.2034G>A	c.(2032-2034)acG>acA	p.T678T	SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000461735.1_Silent_p.T664T|SLC4A2_ENST00000310317.5_Silent_p.T596T|SLC4A2_ENST00000392826.2_Silent_p.T669T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	678				AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 7; CAA27556). {ECO:0000305}.	anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCGGCGGACGGGGCGGCCCT	0.677																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2032-2034)acG>acA		solute carrier family 4 (anion exchanger), member 2																																				SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150768535G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2034G>A	7.37:g.150768535G>A						SLC4A2_ENST00000392826.2_Silent_p.T669T|SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000461735.1_Silent_p.T664T|SLC4A2_ENST00000310317.5_Silent_p.T596T	p.T678T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	3074	+			678	AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556).				B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.2034G>A	CCDS5917.1																																																																																				0.677	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		7	16	0	0	0	1	0	7	16					A	150768535	G	A	150768535	2	1	98	1	0	0	0	0	0	0	0	1	14654	1103	39	2		2	SLC4A2	7	150768535	Silent	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08	50085798	150768535	8370128	16	1813										
PTGS1	5742	broad.mit.edu	37	chr9	125140786	125140786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	acttcctgctcactcacgggCgctggttctgggagtttgtc	12	12	3	0	rs200494275	byFrequency	TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr9:125140786C>T	ENST00000362012.2	+	4	291	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	96					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CACTCACGGGCGCTGGTTCTG	0.632													C|||	3	0.000599042	0	0	5008	,	,		19078	0		0.003	False		,,,				2504	0					ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(286-288)Cgc>Tgc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						78	79	79					9																	125140786		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140786C>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.286C>T	9.37:g.125140786C>T	ENSP00000354612:p.Arg96Cys					PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C|PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000373698.5_5'UTR	p.R96C	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			4	291	+			96					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.286C>T	CCDS6842.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	16.98	3.270406	0.59540	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.68	4.77	0.60923	.	0.445774	0.27388	N	0.019583	T	0.67515	0.2901	L	0.47190	1.495	0.80722	D	1	D;D;D	0.65815	0.975;0.979;0.995	P;B;P	0.54924	0.582;0.33;0.764	T	0.69435	-0.5146	10	0.72032	D	0.01	-10.3523	6.9641	0.24613	0.2721:0.6421:0.0:0.0858	.	71;96;96	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	C	71;96;96;54	ENSP00000437709:R71C;ENSP00000354612:R96C;ENSP00000223423:R96C;ENSP00000411606:R54C	ENSP00000223423:R96C	R	+	1	0	PTGS1	124180607	0.353000	0.24904	0.918000	0.36340	0.846000	0.48090	1.570000	0.36439	1.373000	0.46208	0.563000	0.77884	CGC		0.632	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			7	70	0	0	0	1	0	7	70					T	125140786	C	T	125140786	3	4	98	1	0	0	0	0	1	0	0	0	12755	768	27	1	300	1	PTGS1	9	125140786	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		125140786	16072645	17	1814										
BTBD10	84280	broad.mit.edu	37	chr11	13441043	13441043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	ttggctgtgcagtaaaaatgGatgggtctacaacaaatcta	10	6	2	0			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr11:13441043G>C	ENST00000278174.5	-	4	793	c.548C>G	c.(547-549)tCc>tGc	p.S183C	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C|BTBD10_ENST00000530907.1_Missense_Mutation_p.S191C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	183	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGTAAAAATGGATGGGTCTAC	0.338																																						ENST00000278174.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.(547-549)tCc>tGc		BTB (POZ) domain containing 10							124	128	127					11																	13441043		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13441043G>C	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.548C>G	11.37:g.13441043G>C	ENSP00000278174:p.Ser183Cys					BTBD10_ENST00000530907.1_Missense_Mutation_p.S191C|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C	p.S183C	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	4	793	-			183			BTB.		B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.548C>G	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220020	0.79464	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.50277	0.75;0.75;0.75	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.64170	1.965	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;D;D;D	0.64595	0.874;0.927;0.927;0.927	T	0.68644	-0.5354	10	0.72032	D	0.01	-49.2739	18.8084	0.92048	0.0:0.0:1.0:0.0	.	152;191;183;183	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	C	183;191;135	ENSP00000278174:S183C;ENSP00000431186:S191C;ENSP00000435257:S135C	ENSP00000278174:S183C	S	-	2	0	BTBD10	13397619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.727000	0.84838	2.534000	0.85438	0.650000	0.86243	TCC		0.338	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320		7	108	0	0	0	1	0	7	108					C	13441043	G	C	13441043	3	2	98	1	0	0	0	0	1	0	0	0	1538	1174	41	5	903	5	BTBD10	11	13441043	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		13441043	121565473	18	1815										
A2M	2	broad.mit.edu	37	chr12	9242536	9242536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gatgactgtgtctttccttcCgtgttcaggaactgaaggca	11	9	2	2			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr12:9242536C>T	ENST00000318602.7	-	21	2987	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	894					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCTTTCCTTCCGTGTTCAGGA	0.393																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2680-2682)Gga>Aga		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						76	74	75					12																	9242536		1877	4108	5985	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9242536C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2680G>A	12.37:g.9242536C>T	ENSP00000323929:p.Gly894Arg						p.G894R	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			21	2987	-			894					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2680G>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819719	0.71028	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.62788	-0.0	5.68	5.68	0.88126	.	0.077649	0.56097	D	0.000040	T	0.60547	0.2277	M	0.63428	1.95	0.51012	D	0.999909	P	0.46395	0.877	B	0.37304	0.246	T	0.66803	-0.5831	10	0.54805	T	0.06	.	18.364	0.90384	0.0:1.0:0.0:0.0	.	894	P01023	A2MG_HUMAN	R	894;909	ENSP00000323929:G894R	ENSP00000323929:G894R	G	-	1	0	A2M	9133803	1.000000	0.71417	0.953000	0.39169	0.488000	0.33401	5.372000	0.66156	2.674000	0.91012	0.655000	0.94253	GGA		0.393	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		11	65	0	0	0	1	0	11	65					T	9242536	C	T	9242536	3	4	98	1	0	0	0	0	1	0	0	0	4	661	23	2	1808	2	A2M	12	9242536	Missense_Mutation	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		9242536	124609359	19	1816										
ALDH2	217	broad.mit.edu	37	chr12	112223106	112223106	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	gacaatggcaagccctatgtCatctcctacctggtggattt	9	11	2	0			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr12:112223106C>A	ENST00000261733.2	+	4	457	c.396C>A	c.(394-396)gtC>gtA	p.V132V	ALDH2_ENST00000416293.3_Silent_p.V85V|RP11-162P23.2_ENST00000546840.2_Nonsense_Mutation_p.S129*	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	132					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	AGCCCTATGTCATCTCCTACC	0.517			T	HMGA2	leiomyoma																																	ENST00000546840.2				Dom	yes		12	12q24.2	217		aldehyde dehydrogenase 2 family (mitochondrial)			M					0											c.(385-387)tCa>tAa									175	152	160					12																	112223106		2203	4300	6503	SO:0001819	synonymous_variant	217							g.chr12:112223106C>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.396C>A	12.37:g.112223106C>A						ALDH2_ENST00000416293.3_Silent_p.V85V|ALDH2_ENST00000261733.2_Silent_p.V132V	p.S129*							5	386	+								B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Nonsense_Mutation	SNP	ENST00000261733.2	37	c.386C>A	CCDS9155.1																																																																																				0.517	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		16	91	1	0	8.00594e-06	1	8.46342e-06	16	91					A	112223106	C	A	112223106	2	1	98	1	0	0	0	0	0	0	0	1	496	813	29	5		5	ALDH2	12	112223106	Silent	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08	102980570	112223106	21628789	20	1817										
CRAMP1L	57585	broad.mit.edu	37	chr16	1723958	1723958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	tcggttcaatgacctggcccAagagctgtccatcgctgagc	11	13	1	3			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr16:1723958A>G	ENST00000397412.3	+	21	3821	c.3722A>G	c.(3721-3723)cAa>cGa	p.Q1241R	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1241	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GACCTGGCCCAAGAGCTGTCC	0.562																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3721-3723)cAa>cGa		Crm, cramped-like (Drosophila)							90	93	92					16																	1723958		2072	4225	6297	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1723958A>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3722A>G	16.37:g.1723958A>G	ENSP00000380559:p.Gln1241Arg					CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R	p.Q1241R			Q96RY5	CRML_HUMAN			21	3821	+			1241			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.3722A>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	A	34	5.294039	0.95546	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	L	0.36672	1.1	0.51012	D	0.999906	D	0.69078	0.997	D	0.77557	0.99	T	0.64782	-0.6326	9	0.33141	T	0.24	-13.8003	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1241	Q96RY5	CRML_HUMAN	R	1241;1241;1238;616	.	ENSP00000262317:Q616R	Q	+	2	0	CRAMP1L	1663959	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.645000	0.91049	2.326000	0.78906	0.533000	0.62120	CAA		0.562	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			10	65	0	0	0	1	0	10	65					G	1723958	A	G	1723958	3	3	98	1	0	0	0	0	1	0	0	0	3846	130	5	4	3800	4	CRAMP1L	16	1723958	Missense_Mutation	SNP	A	TCGA-S7-A7WT-01A-12D-A35I-08		1723958	88630795	21	1818										
UBN1	29855	broad.mit.edu	37	chr16	4920308	4920308	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	ctgcagcaaggatgccctgcTcaagcgtgctcggaaacttc	11	13	1	0			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr16:4920308T>G	ENST00000396658.4	+	8	1980	c.1277T>G	c.(1276-1278)cTc>cGc	p.L426R	UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R|UBN1_ENST00000262376.6_Missense_Mutation_p.L426R|UBN1_ENST00000585857.1_3'UTR	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	426					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GATGCCCTGCTCAAGCGTGCT	0.572																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1276-1278)cTc>cGc		ubinuclein 1							87	71	76					16																	4920308		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4920308T>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1277T>G	16.37:g.4920308T>G	ENSP00000379894:p.Leu426Arg					UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.L426R	p.L426R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			8	1980	+			426					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.1277T>G	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.227717	0.58668	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46451	0.87;0.87;0.87	5.33	4.25	0.50352	.	0.498899	0.20388	N	0.093303	T	0.46112	0.1376	L	0.39147	1.195	0.32938	D	0.518063	P;P	0.42203	0.731;0.773	P;P	0.51742	0.549;0.678	T	0.60429	-0.7265	10	0.87932	D	0	-0.715	10.558	0.45129	0.0:0.0755:0.0:0.9245	.	426;426	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	R	426	ENSP00000262376:L426R;ENSP00000442379:L426R;ENSP00000379894:L426R	ENSP00000262376:L426R	L	+	2	0	UBN1	4860309	1.000000	0.71417	0.919000	0.36401	0.914000	0.54420	5.118000	0.64673	2.029000	0.59856	0.533000	0.62120	CTC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		6	41	0	0	0	1	0	6	41					G	4920308	T	G	4920308	3	3	98	1	0	0	0	0	1	0	0	0	16889	1551	54	5	1307	5	UBN1	16	4920308	Missense_Mutation	SNP	T	TCGA-S7-A7WT-01A-12D-A35I-08	3196350	4920308	85434445	22	1819										
KSR1	8844	broad.mit.edu	37	chr17	25932726	25932726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	atggacggccacaaccaggaCcacctgaagctcttcaagaa	9	13	2	2			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr17:25932726C>T	ENST00000319524.6	+	15	1947	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	KSR1_ENST00000398988.3_Silent_p.D512D|KSR1_ENST00000268763.6_Silent_p.D512D|KSR1_ENST00000509603.2_Silent_p.D627D			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAACCAGGACCACCTGAAGC	0.667																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1534-1536)gaC>gaT		kinase suppressor of ras 1							19	21	20					17																	25932726		2035	4185	6220	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932726C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1947C>T	17.37:g.25932726C>T						KSR1_ENST00000509603.2_Silent_p.D627D|KSR1_ENST00000268763.6_Silent_p.D512D|KSR1_ENST00000319524.6_Silent_p.D649D	p.D512D	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	16	1981	+	Lung NSC(42;0.00836)		647					F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.1536C>T		.	.	.	.	.	.	.	.	.	.	C	9.963	1.223407	0.22457	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.67	2.62	0.31277	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	4	.	.	.	.	7.4933	0.27475	0.0:0.5783:0.0:0.4217	.	.	.	.	S	363	.	.	P	+	1	0	KSR1	22956853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.167000	0.31847	0.342000	0.23796	0.655000	0.94253	CCA		0.667	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		11	20	0	0	0	1	0	11	20					T	25932726	C	T	25932726	2	4	98	1	0	0	0	0	0	0	0	1	8581	506	18	3		3	KSR1	17	25932726	Silent	SNP	C	TCGA-S7-A7WT-01A-12D-A35I-08		25932726	55262484	23	1820										
ZNF324	25799	broad.mit.edu	37	chr19	58983066	58983066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	ccttcgtgtgcgcgctctgcGgtgctgccttcagccagggc	14	15	2	0	rs201782487		TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr19:58983066G>A	ENST00000536459.2	+	4	1916	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S|ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S			O75467	Z324A_HUMAN	zinc finger protein 324	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGCTCTGCGGTGCTGCCTT	0.662																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1207-1209)Ggt>Agt		zinc finger protein 324							40	38	39					19																	58983066		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983066G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1207G>A	19.37:g.58983066G>A	ENSP00000444812:p.Gly403Ser					ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S	p.G403S			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1916	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	403					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1207G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453252	0.63290	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.57752	0.38;0.38;0.38	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000664	T	0.59945	0.2231	L	0.28608	0.87	0.49299	D	0.999773	D	0.89917	1.0	D	0.97110	1.0	T	0.64309	-0.6438	10	0.72032	D	0.01	.	13.654	0.62327	0.0:0.0:1.0:0.0	.	403	O75467	Z324A_HUMAN	S	403;403;393;180	ENSP00000196482:G403S;ENSP00000444812:G403S;ENSP00000439588:G180S	ENSP00000196482:G403S	G	+	1	0	ZNF324	63674878	1.000000	0.71417	0.142000	0.22268	0.145000	0.21501	5.891000	0.69782	2.330000	0.79161	0.400000	0.26472	GGT		0.662	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	54	0	0	0	1	0	3	54					A	58983066	G	A	58983066	3	1	98	1	0	0	0	0	1	0	0	0	17841	1116	39	2	1217	2	ZNF324	19	58983066	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		58983066	145917	24	1821										
TM9SF4	9777	broad.mit.edu	37	chr20	30732974	30732974	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	aagaaattgaccccaccaagGagaatcagctgtacttcacc	7	12	2	3			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chr20:30732974G>T	ENST00000398022.2	+	7	968	c.733G>T	c.(733-735)Gag>Tag	p.E245*	TM9SF4_ENST00000217315.5_Nonsense_Mutation_p.E228*	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	245						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCACCAAGGAGAATCAGCT	0.557																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(682-684)Gag>Tag		transmembrane 9 superfamily protein member 4							130	113	119					20																	30732974		2203	4300	6503	SO:0001587	stop_gained	9777					integral to membrane		g.chr20:30732974G>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.733G>T	20.37:g.30732974G>T	ENSP00000381104:p.Glu245*					TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.E245*	p.E228*			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	1022	+			245					B0QYT7|Q9NUA3	Nonsense_Mutation	SNP	ENST00000398022.2	37	c.682G>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	39	7.329571	0.98214	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-13.8986	17.783	0.88529	0.0:0.0:1.0:0.0	.	.	.	.	X	245;171;228	.	ENSP00000217315:E228X	E	+	1	0	TM9SF4	30196635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.910000	0.69931	2.873000	0.98535	0.561000	0.74099	GAG		0.557	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		11	64	1	0	0.00829132	1	0.00852163	11	64					T	30732974	G	T	30732974	4	4	98	1	0	0	0	0	0	1	0	0	15977	1175	41	5	759	5	TM9SF4	20	30732974	Nonsense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		30732974	32292546	25	1822										
ASB9	140462	broad.mit.edu	37	chrX	15267054	15267054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	2	1	1.04112554112554	1.8219696969697	0.728787878787879	1	1	0	ctttcccttggttcacgtccGctcctaaacagtcacgagaa	7	14	2	1			TCGA-S7-A7WT-01A-12D-A35I-08	TCGA-S7-A7WT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	104e94c6-55c9-4957-b1ae-9a592158d0e3	a6647b15-29af-4228-bc47-202916482c4d	g.chrX:15267054G>A	ENST00000380488.4	-	6	845	c.572C>T	c.(571-573)gCg>gTg	p.A191V	ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000546332.1_Missense_Mutation_p.A191V|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	191					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACGTCCGCTCCTAAACA	0.532																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(571-573)gCg>gTg		ankyrin repeat and SOCS box containing 9							52	44	47					X																	15267054		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15267054G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.572C>T	X.37:g.15267054G>A	ENSP00000369855:p.Ala191Val					ASB9_ENST00000380488.4_Missense_Mutation_p.A191V|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V	p.A191V	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1055	-	Hepatocellular(33;0.183)		191					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.572C>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562092	0.27915	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.80653	-1.4;0.19;0.19;0.19	5.83	3.1	0.35709	Ankyrin repeat-containing domain (4);	0.150635	0.64402	N	0.000015	D	0.85699	0.5757	M	0.66560	2.04	0.47819	D	0.999526	P;D;D;D	0.63046	0.488;0.986;0.991;0.992	B;D;P;P	0.63113	0.228;0.911;0.6;0.711	D	0.84168	0.0432	10	0.66056	D	0.02	-5.3201	10.2401	0.43308	0.2224:0.0:0.7776:0.0	.	162;181;191;191	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	V	181;191;191;191	ENSP00000369850:A181V;ENSP00000369852:A191V;ENSP00000369855:A191V;ENSP00000438943:A191V	ENSP00000369850:A181V	A	-	2	0	ASB9	15176975	1.000000	0.71417	0.253000	0.24343	0.005000	0.04900	3.272000	0.51616	0.216000	0.20781	0.600000	0.82982	GCG		0.532	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			12	22	0	0	0	1	0	12	22					A	15267054	G	A	15267054	3	1	98	1	0	0	0	0	1	0	0	0	1030	1087	38	1	349	1	ASB9	23	15267054	Missense_Mutation	SNP	G	TCGA-S7-A7WT-01A-12D-A35I-08		15267054	140003506	26	1823										
USH2A	7399	broad.mit.edu	37	chr1	215823955	215823955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	actgtctcagccccatgggcGctgctggagaacagcctgta	12	13	1	1	rs147037435	byFrequency	TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr1:215823955G>A	ENST00000307340.3	-	65	14708	c.14322C>T	c.(14320-14322)agC>agT	p.S4774S	USH2A_ENST00000366943.2_Silent_p.S4774S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4774	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCATGGGCGCTGCTGGAGA	0.483										HNSCC(13;0.011)			G|||	3	0.000599042	0.0023	0	5008	,	,		15781	0		0	False		,,,				2504	0					ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14320-14322)agC>agT		Usher syndrome 2A (autosomal recessive, mild)		G		9,4397	15.5+/-35.6	0,9,2194	74	74	74		14322	0.2	0	1	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	USH2A	NM_206933.2		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		4774/5203	215823955	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215823955G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14322C>T	1.37:g.215823955G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.S4774S	p.S4774S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14708	-			4774			Fibronectin type-III 33.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14322C>T	CCDS31025.1																																																																																				0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	23	0	0	0	1	0	16	23					A	215823955	G	A	215823955	2	1	99	1	0	0	0	0	0	0	0	1	17033	1078	38	1		1	USH2A	1	215823955	Silent	SNP	G	TCGA-S7-A7WU-01A-11D-A35I-08		215823955	33426666	1	1824										
KIF3C	3797	broad.mit.edu	37	chr2	26203255	26203255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cccttaccttgtacttggccGcaagcagctctgtggcctgc	10	15	1	0	rs377274965		TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr2:26203255G>A	ENST00000264712.3	-	1	2111	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	KIF3C_ENST00000405914.1_Missense_Mutation_p.A511V	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	511					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACTTGGCCGCAAGCAGCTC	0.627													G|||	1	0.000199681	0	0	5008	,	,		14501	0		0	False		,,,				2504	0.001					ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1531-1533)gCg>gTg		kinesin family member 3C		G	VAL/ALA	0,4406		0,0,2203	47	46	46		1532	5.6	0.7	2		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF3C	NM_002254.6	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	511/794	26203255	1,13005	2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203255G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1532C>T	2.37:g.26203255G>A	ENSP00000264712:p.Ala511Val					KIF3C_ENST00000405914.1_Missense_Mutation_p.A511V	p.A511V	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	2111	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		511					O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.1532C>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621697	0.28889	0.0	1.16E-4	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.73575	-0.76;-0.76	5.62	5.62	0.85841	.	0.211050	0.49916	D	0.000138	T	0.63058	0.2479	L	0.31371	0.925	0.49915	D	0.99983	B;D	0.56035	0.449;0.974	B;B	0.38225	0.061;0.268	T	0.64626	-0.6363	10	0.31617	T	0.26	.	18.223	0.89907	0.0:0.0:1.0:0.0	.	511;511	B7ZM25;O14782	.;KIF3C_HUMAN	V	511;317;511	ENSP00000264712:A511V;ENSP00000385030:A511V	ENSP00000264712:A511V	A	-	2	0	KIF3C	26056759	0.972000	0.33761	0.677000	0.29947	0.998000	0.95712	2.566000	0.45948	2.653000	0.90120	0.655000	0.94253	GCG		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			3	21	0	0	0	1	0	3	21					A	26203255	G	A	26203255	3	1	99	1	0	0	0	0	1	0	0	0	8302	1087	38	1	881	1	KIF3C	2	26203255	Missense_Mutation	SNP	G	TCGA-S7-A7WU-01A-11D-A35I-08		26203255	216996118	2	1825										
SPATA16	83893	broad.mit.edu	37	chr3	172642091	172642091	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gtatcttctctggtcagaccGaaaggtgttttatgctctaa	9	8	4	1	rs536087951	byFrequency	TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr3:172642091G>A	ENST00000351008.3	-	8	1428	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	415					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGGTCAGACCGAAAGGTGTTT	0.338													G|||	4	0.000798722	0	0	5008	,	,		17650	0.004		0	False		,,,				2504	0					ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1243-1245)ttC>ttT		spermatogenesis associated 16							102	98	99					3																	172642091		2203	4300	6503	SO:0001819	synonymous_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172642091G>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1245C>T	3.37:g.172642091G>A							p.F415F	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		8	1428	-	Ovarian(172;0.00319)|Breast(254;0.197)		415					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	c.1245C>T	CCDS3221.1																																																																																				0.338	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	55	0	0	0	1	0	7	55					A	172642091	G	A	172642091	2	1	99	1	0	0	0	0	0	0	0	1	15000	1049	37	2		2	SPATA16	3	172642091	Silent	SNP	G	TCGA-S7-A7WU-01A-11D-A35I-08		172642091	25380339	3	1826										
DHX16	8449	broad.mit.edu	37	chr6	30633377	30633377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcttatatttgagctcctgcCgctcgtgccggctcagctcc	10	15	1	1	rs139415113		TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr6:30633377C>T	ENST00000376442.3	-	5	995	c.800G>A	c.(799-801)cGg>cAg	p.R267Q		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	267					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GAGCTCCTGCCGCTCGTGCCG	0.627																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(799-801)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 16		C	GLN/ARG,GLN/ARG	0,3020		0,0,1510	69	70	69		620,800	3.3	0.9	6	dbSNP_134	69	1,5415		0,1,2707	yes	missense,missense	DHX16	NM_001164239.1,NM_003587.4	43,43	0,1,4217	TT,TC,CC		0.0185,0.0,0.0119	benign,benign	207/982,267/1042	30633377	1,8435	1510	2708	4218	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30633377C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.800G>A	6.37:g.30633377C>T	ENSP00000365625:p.Arg267Gln						p.R267Q	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			5	995	-			267					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.800G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	c	14.92	2.678259	0.47886	0.0	1.85E-4	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.46063	0.88;0.88	5.12	3.31	0.37934	.	0.427120	0.24039	N	0.042112	T	0.09158	0.0226	N	0.16656	0.425	0.58432	D	0.999995	B;B	0.23650	0.089;0.024	B;B	0.14578	0.011;0.006	T	0.09271	-1.0682	10	0.33141	T	0.24	.	3.6175	0.08083	0.1795:0.566:0.0:0.2545	.	207;267	B4DZ28;O60231	.;DHX16_HUMAN	Q	267;207	ENSP00000365625:R267Q;ENSP00000399101:R207Q	ENSP00000365625:R267Q	R	-	2	0	DHX16	30741356	0.000000	0.05858	0.942000	0.38095	0.883000	0.51084	-0.421000	0.07053	0.699000	0.31761	0.586000	0.80456	CGG		0.627	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		3	43	0	0	0	1	0	3	43					T	30633377	C	T	30633377	3	4	99	1	0	0	0	0	1	0	0	0	4502	652	23	2	2389	2	DHX16	6	30633377	Missense_Mutation	SNP	C	TCGA-S7-A7WU-01A-11D-A35I-08		30633377	140481690	4	1827										
MAP3K4	4216	broad.mit.edu	37	chr6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgctgctgctgctgctgCtgctgttgctgccagtcggc	14	13	0	0			TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3592-3594)gCt>gTt		mitogen-activated protein kinase kinase kinase 4							93	92	92					6																	161519378		2203	4299	6502	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519378C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3593C>T	6.37:g.161519378C>T	ENSP00000375986:p.Ala1198Val					MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	p.A1198V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3741	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1198			Poly-Ala.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3593C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360800	0.01245	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71103	-0.54;-0.53	2.29	2.29	0.28610	.	0.754387	0.11657	N	0.542271	T	0.51227	0.1662	N	0.19112	0.55	0.26345	N	0.977309	B;D	0.57571	0.073;0.98	B;D	0.65443	0.037;0.935	T	0.39354	-0.9618	10	0.10377	T	0.69	-7.006	8.5531	0.33465	0.0:1.0:0.0:0.0	.	1194;1198	F5H538;Q9Y6R4	.;M3K4_HUMAN	V	1198;1194	ENSP00000375986:A1198V;ENSP00000355887:A1194V	ENSP00000355887:A1194V	A	+	2	0	MAP3K4	161439368	0.010000	0.17322	0.105000	0.21289	0.511000	0.34104	0.116000	0.15561	1.726000	0.51525	0.366000	0.22137	GCT		0.597	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			6	129	0	0	0	1	0	6	129					T	161519378	C	T	161519378	3	4	99	1	0	0	0	0	1	0	0	0	9252	797	28	3	3659	3	MAP3K4	6	161519378	Missense_Mutation	SNP	C	TCGA-S7-A7WU-01A-11D-A35I-08	130886001	161519378	9595689	5	1828										
UNC13C	440279	broad.mit.edu	37	chr15	54556464	54556464	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	agatcagggagaaaaaccggCcagaagtatttgaagtaatc							TCGA-S7-A7WU-01A-11D-A35I-08	TCGA-S7-A7WU-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02290cdf-4c2d-4eb4-b0ff-2b9989c6a2fb	7e54767e-763c-4d5f-a1d0-3eed338704c3	g.chr15:54556464delC	ENST00000260323.11	+	8	3547	c.3547delC	c.(3547-3549)ccafs	p.P1183fs	UNC13C_ENST00000537900.1_Frame_Shift_Del_p.P1181fs|UNC13C_ENST00000545554.1_Frame_Shift_Del_p.P1183fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1183					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAAACCGGCCAGAAGTATT	0.408																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3547-3549)cafs		unc-13 homolog C (C. elegans)							53	50	51					15																	54556464		1819	4068	5887	SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54556464delC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3547delC	15.37:g.54556464delC	ENSP00000260323:p.Pro1183fs					UNC13C_ENST00000537900.1_Frame_Shift_Del_p.P1181fs|UNC13C_ENST00000260323.11_Frame_Shift_Del_p.P1183fs	p.P1183fs			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	8	3547	+			1183					Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	c.3547delC	CCDS45264.1																																																																																				0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		2	4						2	4	---	---	---	---	-	54556464	C	-	54556464	7	5	99	1	0	1	0	1	0	0	0	0	16983	739	26	0	3573	0	UNC13C	15	54556464	Frame_Shift_Del	DEL	C	TCGA-S7-A7WU-01A-11D-A35I-08		54556464	47974928	6	1829										
COPA	1314	broad.mit.edu	37	chr1	160261696	160261696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	aaacccacaatgtactcacgGcaaatggtgatgagctgctg	10	10	1	2			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191	193	192					1																	160261696		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261696G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		5	190	0	0	0	1	0	5	190					A	160261696	G	A	160261696	2	1	100	1	0	0	0	0	0	0	0	1	3727	1195	42	3		3	COPA	1	160261696	Silent	SNP	G	TCGA-S7-A7WV-01A-11D-A35I-08		160261696	88988925	1	1830										
LHX9	56956	broad.mit.edu	37	chr1	197887022	197887022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	cccccagccatgctctttcaCgggatctccggaggccacat	9	17	3	0			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr1:197887022C>T	ENST00000367387.4	+	1	494	c.69C>T	c.(67-69)caC>caT	p.H23H	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Silent_p.H14H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000367390.3_Silent_p.H14H|LHX9_ENST00000337020.2_Silent_p.H23H	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	23					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGCTCTTTCACGGGATCTCCG	0.612																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(40-42)caC>caT		LIM homeobox 9							102	101	101					1																	197887022		2203	4300	6503	SO:0001819	synonymous_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197887022C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"Homeoboxes / LIM class"	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.69C>T	1.37:g.197887022C>T						LHX9_ENST00000367387.4_Silent_p.H23H|LHX9_ENST00000337020.2_Silent_p.H23H|LHX9_ENST00000561173.1_Silent_p.H29H|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Silent_p.H14H	p.H14H	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			2	69	+			23					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	c.42C>T	CCDS1393.1																																																																																				0.612	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		4	103	0	0	0	1	0	4	103					T	197887022	C	T	197887022	2	4	100	1	0	0	0	0	0	0	0	1	8777	535	19	1		1	LHX9	1	197887022	Silent	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08	37625326	197887022	51363599	2	1831										
SEMA4F	10505	broad.mit.edu	37	chr2	74881511	74881511	+	Frame_Shift_Del	DEL	C	C	-													0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	ggcggagccaaagatgccggCctctgctgcgcggccccgcc							TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr2:74881511delC	ENST00000357877.2	+	1	157	c.8delC	c.(7-9)gccfs	p.A3fs	SEMA4F_ENST00000339773.5_Frame_Shift_Del_p.A3fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	3					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAGATGCCGGCCTCTGCTGCG	0.761																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(7-9)gcfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							2	3	3					2																	74881511		1642	3400	5042	SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74881511delC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.8delC	2.37:g.74881511delC	ENSP00000350547:p.Ala3fs					SEMA4F_ENST00000339773.5_Frame_Shift_Del_p.A3fs	p.A3fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			1	157	+			3					Q542Y7|Q9NS35	Frame_Shift_Del	DEL	ENST00000357877.2	37	c.8delC	CCDS1955.1																																																																																				0.761	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		2	4						2	4	---	---	---	---	-	74881511	C	-	74881511	7	5	100	1	0	1	0	1	0	0	0	0	14035	739	26	0	10	0	SEMA4F	2	74881511	Frame_Shift_Del	DEL	C	TCGA-S7-A7WV-01A-11D-A35I-08		74881511	168317862	3	1832										
TATDN2	9797	broad.mit.edu	37	chr3	10311971	10311971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	ccttcaccaccgactatgtcAtgtaccctcctcatttgtac	4	16	3	0			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr3:10311971A>G	ENST00000287652.4	+	4	2156	c.1105A>G	c.(1105-1107)Atg>Gtg	p.M369V	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	369					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CGACTATGTCATGTACCCTCC	0.542																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1105-1107)Atg>Gtg		TatD DNase domain containing 2							166	158	161					3																	10311971		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10311971A>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1105A>G	3.37:g.10311971A>G	ENSP00000287652:p.Met369Val					RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.M369V	p.M369V	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			4	2156	+			369					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1105A>G	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356410	0.41700	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.38240	1.15;1.15	4.73	4.73	0.59995	.	0.000000	0.43919	D	0.000506	T	0.34193	0.0889	M	0.62723	1.935	0.34017	D	0.65223	P	0.35383	0.498	B	0.29598	0.104	T	0.56817	-0.7916	10	0.87932	D	0	-37.6096	12.5379	0.56152	1.0:0.0:0.0:0.0	.	369	Q93075	TATD2_HUMAN	V	369	ENSP00000287652:M369V;ENSP00000408736:M369V	ENSP00000287652:M369V	M	+	1	0	TATDN2	10286971	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.589000	0.67523	1.908000	0.55244	0.524000	0.50904	ATG		0.542	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	146	0	0	0	1	0	7	146					G	10311971	A	G	10311971	3	3	100	1	0	0	0	0	1	0	0	0	15589	217	8	4	1115	4	TATDN2	3	10311971	Missense_Mutation	SNP	A	TCGA-S7-A7WV-01A-11D-A35I-08		10311971	187710459	4	1833										
FBN2	2201	broad.mit.edu	37	chr5	127641239	127641239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	gggtgaaagtttgaaacccgCggcacattcacagcggtaac	12	10	1	2	rs546148828		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr5:127641239C>T	ENST00000508053.1	-	50	6612	c.5638G>A	c.(5638-5640)Gcg>Acg	p.A1880T	FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T			P35556	FBN2_HUMAN	fibrillin 2	1880	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAACCCGCGGCACATTCA	0.458													C|||	1	0.000199681	0	0	5008	,	,		16849	0.001		0	False		,,,				2504	0					ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5638-5640)Gcg>Acg		fibrillin 2							82	82	82					5																	127641239		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127641239C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5638G>A	5.37:g.127641239C>T	ENSP00000424571:p.Ala1880Thr					FBN2_ENST00000262464.4_Missense_Mutation_p.A1880T	p.A1880T			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	50	6612	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1880			EGF-like 30; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5638G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	2.756	-0.259041	0.05791	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92199	-2.99;-2.99	5.25	2.55	0.30701	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.095329	0.46145	N	0.000314	D	0.85252	0.5654	L	0.37630	1.12	0.18873	N	0.999982	B	0.10296	0.003	B	0.08055	0.003	T	0.70382	-0.4887	10	0.24483	T	0.36	.	8.7396	0.34550	0.0:0.7166:0.0:0.2834	.	1880	P35556	FBN2_HUMAN	T	1880	ENSP00000262464:A1880T;ENSP00000424571:A1880T	ENSP00000262464:A1880T	A	-	1	0	FBN2	127669138	0.100000	0.21855	0.010000	0.14722	0.101000	0.19017	1.109000	0.31135	0.476000	0.27440	-0.469000	0.05056	GCG		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	46	0	0	0	1	0	4	46					T	127641239	C	T	127641239	3	4	100	1	0	0	0	0	1	0	0	0	5703	768	27	1	3188	1	FBN2	5	127641239	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08		127641239	53274021	5	1834										
MLL3	58508	broad.mit.edu	37	chr7	151864310	151864310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	catcttcctctggaaattcaCgcccagctttcttggcagta	7	13	4	0			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr7:151864310C>T	ENST00000262189.6	-	42	9889	c.9671G>A	c.(9670-9672)cGt>cAt	p.R3224H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3224H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3224	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATTCACGCCCAGCTTT	0.408																																						ENST00000355193.2																			0											c.(9670-9672)cGt>cAt		lysine (K)-specific methyltransferase 2C							146	134	138					7																	151864310		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151864310C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9671G>A	7.37:g.151864310C>T	ENSP00000262189:p.Arg3224His					KMT2C_ENST00000262189.6_Missense_Mutation_p.R3224H	p.R3224H							42	9889	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9671G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591795	0.86953	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.86230	-2.09;-2.09	5.83	5.83	0.93111	.	0.000000	0.46145	D	0.000307	D	0.89656	0.6778	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.977;1.0	D;D;D	0.91635	0.997;0.935;0.999	D	0.90965	0.4815	10	0.87932	D	0	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	3224;2285;3224	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	3224	ENSP00000262189:R3224H;ENSP00000347325:R3224H	ENSP00000262189:R3224H	R	-	2	0	MLL3	151495243	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	7.776000	0.85560	2.761000	0.94854	0.650000	0.86243	CGT		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	102	0	0	0	1	0	6	102					T	151864310	C	T	151864310	3	4	100	1	0	0	0	0	1	0	0	0	9622	536	19	1	5136	1	MLL3	7	151864310	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08		151864310	7274353	6	1835										
DDX21	9188	broad.mit.edu	37	chr10	70733319	70733319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	aggatgtagagtcctacattCatcgatccgggcggacaggc	13	10	1	1			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr10:70733319C>T	ENST00000354185.4	+	10	1665	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	523	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GTCCTACATTCATCGATCCGG	0.448																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1567-1569)Cat>Tat		DEAD (Asp-Glu-Ala-Asp) box helicase 21							84	83	84					10																	70733319		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70733319C>T	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1567C>T	10.37:g.70733319C>T	ENSP00000346120:p.His523Tyr						p.H523Y	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			10	1665	+			523			Helicase C-terminal.		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.1567C>T	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608639	0.87258	.	.	ENSG00000165732	ENST00000354185	T	0.80123	-1.34	5.07	5.07	0.68467	Helicase, C-terminal (3);	0.044707	0.85682	D	0.000000	D	0.93488	0.7922	H	0.98388	4.22	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.96069	0.9044	10	0.87932	D	0	-31.9356	18.83	0.92135	0.0:1.0:0.0:0.0	.	523	Q9NR30	DDX21_HUMAN	Y	523	ENSP00000346120:H523Y	ENSP00000346120:H523Y	H	+	1	0	DDX21	70403325	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.252000	0.78309	2.493000	0.84123	0.655000	0.94253	CAT		0.448	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		3	32	0	0	0	1	0	3	32					T	70733319	C	T	70733319	3	4	100	1	0	0	0	0	1	0	0	0	4349	826	29	3	1605	3	DDX21	10	70733319	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08		70733319	64801428	7	1836										
RNFT2	84900	broad.mit.edu	37	chr12	117187692	117187692	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	aggcgagtgtggatgaaggtGgcgtctttgagagtctgaag							TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr12:117187692delG	ENST00000257575.4	+	4	363	c.130delG	c.(130-132)ggcfs	p.G44fs	RNFT2_ENST00000407967.3_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000319176.7_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.G44fs			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	44						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGATGAAGGTGGCGTCTTTGA	0.617																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(130-132)gcfs		ring finger protein, transmembrane 2							15	20	19					12																	117187692		2129	4241	6370	SO:0001589	frameshift_variant	84900					integral to membrane	zinc ion binding	g.chr12:117187692delG	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.130delG	12.37:g.117187692delG	ENSP00000257575:p.Gly44fs					RNFT2_ENST00000407967.3_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.G44fs|RNFT2_ENST00000319176.7_Frame_Shift_Del_p.G44fs	p.G44fs			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	4	363	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		44					E9PAM7|Q96SU5	Frame_Shift_Del	DEL	ENST00000257575.4	37	c.130delG	CCDS44987.1																																																																																				0.617	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		2	4						2	4	---	---	---	---	-	117187692	G	-	117187692	7	5	100	1	0	1	0	1	0	0	0	0	13502	1348	47	0	140	0	RNFT2	12	117187692	Frame_Shift_Del	DEL	G	TCGA-S7-A7WV-01A-11D-A35I-08		117187692	16664203	8	1837										
ACSM3	6296	broad.mit.edu	37	chr16	20796355	20796355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	tgagtgctggggaaccaattAcccctgacgtgactgaaaaa	11	9	0	4			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr16:20796355A>T	ENST00000289416.5	+	8	1544	c.1069A>T	c.(1069-1071)Acc>Tcc	p.T357S	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S|ACSM3_ENST00000567387.1_3'UTR|RNU6-944P_ENST00000364023.1_RNA	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	357					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GGAACCAATTACCCCTGACGT	0.418																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1069-1071)Acc>Tcc		acyl-CoA synthetase medium-chain family member 3							126	116	119					16																	20796355		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20796355A>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1069A>T	16.37:g.20796355A>T	ENSP00000289416:p.Thr357Ser					ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.T349S|ACSM3_ENST00000440284.2_Missense_Mutation_p.T357S	p.T357S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			8	1544	+			357					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1069A>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378591	0.42207	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.44083	0.93;0.93;0.93	5.34	5.34	0.76211	AMP-dependent synthetase/ligase (1);	0.105307	0.64402	N	0.000008	T	0.28001	0.0690	N	0.10972	0.075	0.80722	D	1	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.15870	0.014;0.009;0.008	T	0.06752	-1.0809	10	0.54805	T	0.06	-3.1955	15.6035	0.76642	1.0:0.0:0.0:0.0	.	349;357;357	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	S	357;357;349	ENSP00000289416:T357S;ENSP00000394565:T357S;ENSP00000395297:T349S	ENSP00000289416:T357S	T	+	1	0	ACSM3	20703856	1.000000	0.71417	0.180000	0.23079	0.216000	0.24613	7.651000	0.83577	2.148000	0.66965	0.533000	0.62120	ACC		0.418	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		5	49	0	0	0	1	0	5	49					T	20796355	A	T	20796355	3	4	100	1	0	0	0	0	1	0	0	0	185	391	14	5	1095	5	ACSM3	16	20796355	Missense_Mutation	SNP	A	TCGA-S7-A7WV-01A-11D-A35I-08		20796355	69558398	9	1838										
MPP2	4355	broad.mit.edu	37	chr17	41958169	41958169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	ccagggttttccggcggaacGggggcatgcgggccacctcc	16	14	0	0	rs143986614		TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:41958169G>A	ENST00000461854.1	-	11	1197	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000518766.1_Missense_Mutation_p.P392L|MPP2_ENST00000269095.4_Missense_Mutation_p.P347L|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000377184.3_Missense_Mutation_p.P364L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	371					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCGGCGGAACGGGGGCATGCG	0.612											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	8e-04	0	5008	,	,		20147	0		0	False		,,,				2504	0					ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1039-1041)cCg>cTg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							78	73	75					17																	41958169		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958169G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1112C>T	17.37:g.41958169G>A	ENSP00000428286:p.Pro371Leu		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.P392L|MPP2_ENST00000461854.1_Missense_Mutation_p.P371L|MPP2_ENST00000536246.1_Missense_Mutation_p.P336L|MPP2_ENST00000523501.1_Missense_Mutation_p.P336L|MPP2_ENST00000520305.1_Missense_Mutation_p.P208L|MPP2_ENST00000377184.3_Missense_Mutation_p.P364L	p.P347L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	10	1344	-		Breast(137;0.00314)	371					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1040C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	32	5.128724	0.94473	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.17	5.17	0.71159	.	.	.	.	.	T	0.48314	0.1493	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.973;0.991	T	0.55296	-0.8163	9	0.72032	D	0.01	.	16.5636	0.84573	0.0:0.0:1.0:0.0	.	392;364	E7EV80;Q14168-3	.;.	L	364;347;371;208;336;336;392	ENSP00000366389:P364L;ENSP00000269095:P347L;ENSP00000428286:P371L;ENSP00000428136:P208L;ENSP00000430540:P336L;ENSP00000438012:P336L;ENSP00000428182:P392L	ENSP00000269095:P347L	P	-	2	0	MPP2	39313695	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	9.716000	0.98752	2.592000	0.87571	0.485000	0.47835	CCG		0.612	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		4	53	0	0	0	1	0	4	53					A	41958169	G	A	41958169	3	1	100	1	0	0	0	0	1	0	0	0	9734	1116	39	2	634	2	MPP2	17	41958169	Missense_Mutation	SNP	G	TCGA-S7-A7WV-01A-11D-A35I-08		41958169	39237041	10	1839										
ACE	1636	broad.mit.edu	37	chr17	61560877	61560877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	aaacgaaacccactttgatgCtggagctaagtttcatgttc	8	9	1	1			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr17:61560877C>T	ENST00000290866.4	+	10	1568	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000538928.1_Silent_p.L467L|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.A515V|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000290863.6_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	515	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACTTTGATGCTGGAGCTAAG	0.493																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1543-1545)gCt>gTt		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						143	133	136					17																	61560877		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560877C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1544C>T	17.37:g.61560877C>T	ENSP00000290866:p.Ala515Val					ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.L467L|ACE_ENST00000428043.1_Missense_Mutation_p.A515V	p.A515V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			10	1568	+			515			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1544C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000899	0.93227	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.34275	1.37;1.37	4.9	4.9	0.64082	.	0.113064	0.64402	D	0.000010	T	0.58192	0.2105	M	0.89214	3.015	0.80722	D	1	D;D	0.63880	0.993;0.971	P;P	0.54856	0.734;0.762	T	0.67035	-0.5772	10	0.66056	D	0.02	-15.5939	13.6101	0.62074	0.0:0.9234:0.0:0.0766	.	515;515	P12821-2;P12821	.;ACE_HUMAN	V	515	ENSP00000290866:A515V;ENSP00000397593:A515V	ENSP00000290866:A515V	A	+	2	0	ACE	58914609	0.977000	0.34250	0.997000	0.53966	0.986000	0.74619	5.239000	0.65371	2.541000	0.85698	0.455000	0.32223	GCT		0.493	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	148	0	0	0	1	0	4	148					T	61560877	C	T	61560877	3	4	100	1	0	0	0	0	1	0	0	0	136	797	28	3	1582	3	ACE	17	61560877	Missense_Mutation	SNP	C	TCGA-S7-A7WV-01A-11D-A35I-08	19602708	61560877	19634333	11	1840										
C20orf96	140680	broad.mit.edu	37	chr20	257757	257757	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.01851851851852	0	1.16402116402116	1	1	0	aaggattccaggacctttctGcgcatctcaccgaggtcatc	9	13	3	0			TCGA-S7-A7WV-01A-11D-A35I-08	TCGA-S7-A7WV-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123c0334-e846-4722-a45e-36e9ad256672	92b03487-2a3b-4f26-93f0-94e684b33db0	g.chr20:257757G>C	ENST00000360321.2	-	8	891	c.753C>G	c.(751-753)cgC>cgG	p.R251R	C20orf96_ENST00000400269.3_Silent_p.R193R|C20orf96_ENST00000382369.5_Silent_p.R216R	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	251										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACCTTTCTGCGCATCTCAC	0.557																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(751-753)cgC>cgG		chromosome 20 open reading frame 96							133	147	142					20																	257757		2203	4300	6503	SO:0001819	synonymous_variant	140680							g.chr20:257757G>C	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.753C>G	20.37:g.257757G>C						C20orf96_ENST00000400269.3_Silent_p.R193R|C20orf96_ENST00000382369.5_Silent_p.R216R	p.R251R	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	891	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	251					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	c.753C>G	CCDS12994.1																																																																																				0.557	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		7	158	0	0	0	1	0	7	158					C	257757	G	C	257757	2	2	100	1	0	0	0	0	0	0	0	1	2122	1306	46	5		5	C20orf96	20	257757	Silent	SNP	G	TCGA-S7-A7WV-01A-11D-A35I-08		257757	62767763	12	1841										
BARHL2	343472	broad.mit.edu	37	chr1	91180275	91180275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctcacagggggactctcacGgctactcgtaatctcccggt	10	14	3	0			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr1:91180275G>A	ENST00000370445.4	-	2	705	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	222					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GGACTCTCACGGCTACTCGTA	0.542																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(664-666)Cgt>Tgt		BarH-like homeobox 2							140	140	140					1																	91180275		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91180275G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.664C>T	1.37:g.91180275G>A	ENSP00000359474:p.Arg222Cys						p.R222C	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	2	705	-		all_lung(203;0.0263)|Lung SC(238;0.128)	222					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.664C>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932069	0.52866	.	.	ENSG00000143032	ENST00000370445	D	0.91295	-2.82	5.1	3.08	0.35506	Homeodomain-related (1);	0.056398	0.64402	D	0.000002	D	0.89227	0.6655	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.90003	0.4116	10	0.59425	D	0.04	.	12.4014	0.55414	0.0:0.0:0.6953:0.3047	.	222	Q9NY43	BARH2_HUMAN	C	222	ENSP00000359474:R222C	ENSP00000359474:R222C	R	-	1	0	BARHL2	90952863	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.594000	0.61041	1.112000	0.41740	0.655000	0.94253	CGT		0.542	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			19	121	0	0	0	1	0	19	121					A	91180275	G	A	91180275	3	1	101	1	0	0	0	0	1	0	0	0	1314	1116	39	2	507	2	BARHL2	1	91180275	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		91180275	158070346	1	1842										
FLAD1	80308	broad.mit.edu	37	chr1	154961060	154961060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagttccactcaaaggagctAtatgtggctgctgatgaagc	11	9	1	2			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr1:154961060A>G	ENST00000292180.3	+	2	1174	c.852A>G	c.(850-852)ctA>ctG	p.L284L	FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Silent_p.L187L|FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000368432.1_Silent_p.L187L|FLAD1_ENST00000368433.1_Silent_p.L284L|FLAD1_ENST00000368431.3_Silent_p.L185L	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	284					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAGGAGCTATATGTGGCTG	0.587																																						ENST00000368433.1																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22						c.(850-852)ctA>ctG		flavin adenine dinucleotide synthetase 1							46	43	44					1																	154961060		2203	4300	6503	SO:0001819	synonymous_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154961060A>G		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase"				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.852A>G	1.37:g.154961060A>G						FLAD1_ENST00000295530.2_Silent_p.L17L|FLAD1_ENST00000315144.10_Silent_p.L187L|FLAD1_ENST00000292180.3_Silent_p.L284L|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000405236.2_Silent_p.L185L|FLAD1_ENST00000368431.3_Silent_p.L185L|FLAD1_ENST00000368432.1_Silent_p.L187L	p.L284L			Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	1195	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		284					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Silent	SNP	ENST00000292180.3	37	c.852A>G	CCDS1078.1																																																																																				0.587	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		9	25	0	0	0	1	0	9	25					G	154961060	A	G	154961060	2	3	101	1	0	0	0	0	0	0	0	1	5920	436	16	4		4	FLAD1	1	154961060	Silent	SNP	A	TCGA-S7-A7WW-01A-11D-A35I-08	63780785	154961060	94289561	2	1843										
PPEF2	5470	broad.mit.edu	37	chr4	76787341	76787341	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccaccattaccacaccgttaCctcgcgactcagttgttcct	5	17	1	0			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr4:76787341C>T	ENST00000286719.7	-	15	2277		c.e15+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CACACCGTTACCTCGCGACTC	0.473																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.e15+1		protein phosphatase, EF-hand calcium binding domain 2							270	223	239					4																	76787341		2203	4300	6503	SO:0001630	splice_region_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76787341C>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1920+1G>A	4.37:g.76787341C>T								NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		15	2277	-								O14831	Splice_Site	SNP	ENST00000286719.7	37		CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233695	0.39498	.	.	ENSG00000156194	ENST00000286719	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1297	0.72514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPEF2	77006365	1.000000	0.71417	0.974000	0.42286	0.213000	0.24496	6.527000	0.73803	2.421000	0.82119	0.491000	0.48974	.		0.473	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	Intron	36	61	0	0	0	1	0	36	61					T	76787341	C	T	76787341	5	4	101	1	0	0	0	0	0	0	1	0	12308	521	18	3	352	3	PPEF2	4	76787341	Splice_Site	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08		76787341	114366935	3	1844										
SLC27A6	28965	broad.mit.edu	37	chr5	128301920	128301920	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcccttacttttgggatgaCttctggttcgtgttgaaggt	11	7	1	2			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr5:128301920C>A	ENST00000262462.4	+	1	1100	c.90C>A	c.(88-90)gaC>gaA	p.D30E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	30					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGGATGACTTCTGGTTCG	0.478																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(88-90)gaC>gaA		solute carrier family 27 (fatty acid transporter), member 6							107	105	106					5																	128301920		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128301920C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.90C>A	5.37:g.128301920C>A	ENSP00000262462:p.Asp30Glu					SLC27A6_ENST00000506176.1_Missense_Mutation_p.D30E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D30E	p.D30E			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1100	+		all_cancers(142;0.0483)|Prostate(80;0.055)	30					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.90C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	c	12.91	2.080369	0.36662	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.46451	0.87;0.87;0.87	4.44	0.473	0.16763	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.79926	2.475	0.50467	D	0.999879	D	0.76494	0.999	D	0.75484	0.986	T	0.61633	-0.7023	10	0.56958	D	0.05	-10.9229	10.7415	0.46156	0.0:0.6626:0.0:0.3374	.	30	Q9Y2P4	S27A6_HUMAN	E	30	ENSP00000262462:D30E;ENSP00000378684:D30E;ENSP00000421024:D30E	ENSP00000262462:D30E	D	+	3	2	SLC27A6	128329819	0.002000	0.14202	0.249000	0.24280	0.058000	0.15608	-0.092000	0.11129	0.062000	0.16340	-0.224000	0.12420	GAC		0.478	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		7	63	1	0	2.0095e-06	1	2.21045e-06	7	63					A	128301920	C	A	128301920	3	1	101	1	0	0	0	0	1	0	0	0	14530	564	20	5	92	5	SLC27A6	5	128301920	Missense_Mutation	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08		128301920	52613340	4	1845										
RADIL	55698	broad.mit.edu	37	chr7	4876138	4876138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtctcactgactgtgcggcGcaaccggggtggaggagagc	18	10	1	2			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:4876138G>A	ENST00000399583.3	-	3	821	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	RADIL_ENST00000536091.1_Missense_Mutation_p.R212C|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	212					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACTGTGCGGCGCAACCGGGGT	0.736																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(634-636)Cgc>Tgc		Ras association and DIL domains							12	19	17					7																	4876138		2069	4177	6246	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4876138G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.634C>T	7.37:g.4876138G>A	ENSP00000382492:p.Arg212Cys					RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.R212C	p.R212C	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	3	821	-		Ovarian(82;0.0175)	212					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.634C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653151	0.47362	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.25912	3.16;1.77	4.57	4.57	0.56435	.	0.123718	0.56097	D	0.000037	T	0.40862	0.1134	M	0.66506	2.035	0.49389	D	0.99978	D	0.89917	1.0	P	0.59221	0.854	T	0.17715	-1.0360	10	0.38643	T	0.18	-38.9538	10.2857	0.43566	0.0962:0.0:0.9038:0.0	.	212	Q96JH8	RADIL_HUMAN	C	212;186;212	ENSP00000382492:R212C;ENSP00000442533:R212C	ENSP00000320946:R186C	R	-	1	0	RADIL	4842664	1.000000	0.71417	0.996000	0.52242	0.507000	0.33981	3.964000	0.56780	2.100000	0.63781	0.462000	0.41574	CGC		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	18	0	0	0	1	0	3	18					A	4876138	G	A	4876138	3	1	101	1	0	0	0	0	1	0	0	0	12997	1087	38	1	2645	1	RADIL	7	4876138	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		4876138	154262525	5	1846										
TYW1	55253	broad.mit.edu	37	chr7	66474575	66474575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ttttggtcctattagggattCgcaacagttcttgctgaagc	10	8	1	1	rs376806090		TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:66474575C>T	ENST00000359626.5	+	4	443	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	93	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATTAGGGATTCGCAACAGTTC	0.398																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(277-279)ttC>ttT		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							134	119	124					7																	66474575		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66474575C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.279C>T	7.37:g.66474575C>T							p.F93F	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			4	443	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	93			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.279C>T	CCDS5538.1																																																																																				0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	49	0	0	0	1	0	4	49					T	66474575	C	T	66474575	2	4	101	1	0	0	0	0	0	0	0	1	16815	883	31	2		2	TYW1	7	66474575	Silent	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08	61598437	66474575	92664088	6	1847										
TYW1B	441250	broad.mit.edu	37	chr7	72081809	72081809	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	actgcttgctgaactttctcTgcagtaggtaacgccctgtg	10	11	1	1	rs201876441	byFrequency	TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195	152	165					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	88	0	0	0	1	0	7	88					C	72081809	T	C	72081809	1	2	101	0	1	0	0	0	0	0	0	0	16816	1588	55	4		4	TYW1B	7	72081809	RNA	SNP	T	TCGA-S7-A7WW-01A-11D-A35I-08	5607234	72081809	87056854	7	1848										
MSR1	4481	broad.mit.edu	37	chr8	15977990	15977990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtatcccaagctcctacagaCgacctgtccaacgcgcactt	7	16	0	1			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr8:15977990C>T	ENST00000262101.5	-	9	1280	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.V405I|MSR1_ENST00000350896.3_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	387	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCTACAGACGACCTGTCCA	0.542																																						ENST00000262101.5																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1159-1161)Gtc>Atc		macrophage scavenger receptor 1							126	122	123					8																	15977990		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15977990C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1159G>A	8.37:g.15977990C>T	ENSP00000262101:p.Val387Ile					MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.V405I|MSR1_ENST00000355282.2_Intron	p.V387I			P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1280	-			387			SRCR.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1159G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367452	0.11352	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	T;T	0.39229	1.09;1.09	4.84	-6.85	0.01681	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	1.358560	0.05248	N	0.513391	T	0.41766	0.1173	L	0.46670	1.46	0.80722	D	1	B;B	0.22909	0.077;0.032	B;B	0.14578	0.011;0.011	T	0.44982	-0.9292	10	0.45353	T	0.12	.	24.1307	0.99988	0.0:0.8754:0.0:0.1246	.	405;387	B4DDJ5;P21757	.;MSRE_HUMAN	I	387;405	ENSP00000262101:V387I;ENSP00000405453:V405I	ENSP00000262101:V387I	V	-	1	0	MSR1	16022361	0.142000	0.22610	0.015000	0.15790	0.032000	0.12392	0.560000	0.23500	-1.873000	0.01135	-1.934000	0.00508	GTC		0.542	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			5	103	0	0	0	1	0	5	103					T	15977990	C	T	15977990	3	4	101	1	0	0	0	0	1	0	0	0	9886	536	19	1	204	1	MSR1	8	15977990	Missense_Mutation	SNP	C	TCGA-S7-A7WW-01A-11D-A35I-08		15977990	130386032	8	1849										
ADAMTS20	80070	broad.mit.edu	37	chr12	43886328	43886328	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctagtgataagaacagcagtGtcatggtgggaagggtgaac	15	5	1	3			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:43886328G>A	ENST00000389420.3	-	6	1055	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	ADAMTS20_ENST00000553158.1_Silent_p.D352D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	352	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAACAGCAGTGTCATGGTGGG	0.383																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1054-1056)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							171	141	151					12																	43886328		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43886328G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1056C>T	12.37:g.43886328G>A						ADAMTS20_ENST00000553158.1_Silent_p.D352D	p.D352D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	6	1055	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	352			Peptidase M12B.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1056C>T	CCDS31778.2																																																																																				0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	9	0	0	0	1	0	3	9					A	43886328	G	A	43886328	2	1	101	1	0	0	0	0	0	0	0	1	266	1368	48	3		3	ADAMTS20	12	43886328	Silent	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		43886328	89965567	9	1850										
ADCY6	112	broad.mit.edu	37	chr12	49169216	49169216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctcatcctcagggttcaggGcatcttgggtgccccggctg	13	14	4	0			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:49169216G>A	ENST00000307885.4	-	10	2544	c.1850C>T	c.(1849-1851)gCc>gTc	p.A617V	ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	617					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGGTTCAGGGCATCTTGGGT	0.572																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1849-1851)gCc>gTc		adenylate cyclase 6							72	65	67					12																	49169216		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169216G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1850C>T	12.37:g.49169216G>A	ENSP00000311405:p.Ala617Val					ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.A617V|ADCY6_ENST00000550422.1_Missense_Mutation_p.A617V	p.A617V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			10	2544	-			617					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1850C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404130	0.62288	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.76316	-1.01;-1.01;-1.01	5.07	5.07	0.68467	.	0.065591	0.64402	D	0.000015	T	0.78220	0.4249	L	0.45581	1.43	0.58432	D	0.99999	P;P	0.47191	0.696;0.891	P;P	0.48873	0.457;0.593	T	0.75836	-0.3177	10	0.29301	T	0.29	.	17.614	0.88063	0.0:0.0:1.0:0.0	.	617;617	O43306-2;O43306	.;ADCY6_HUMAN	V	617	ENSP00000350536:A617V;ENSP00000446730:A617V;ENSP00000311405:A617V	ENSP00000311405:A617V	A	-	2	0	ADCY6	47455483	0.993000	0.37304	1.000000	0.80357	0.902000	0.53008	2.178000	0.42519	2.533000	0.85409	0.557000	0.71058	GCC		0.572	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		3	33	0	0	0	1	0	3	33					A	49169216	G	A	49169216	3	1	101	1	0	0	0	0	1	0	0	0	298	1203	42	3	1704	3	ADCY6	12	49169216	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08	5282888	49169216	84682679	10	1851										
KRT78	196374	broad.mit.edu	37	chr12	53241882	53241882	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacttcgtctccaggaccttGttctgctgctccaggaaccg	9	15	2	0	rs376235615		TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr12:53241882G>T	ENST00000304620.4	-	2	471	c.408C>A	c.(406-408)aaC>aaA	p.N136K	KRT78_ENST00000359499.4_Missense_Mutation_p.N26K	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	136	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAGGACCTTGTTCTGCTGCT	0.602																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(76-78)aaC>aaA		keratin 78							40	36	38					12																	53241882		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53241882G>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"-", "Intermediate filaments type II, keratins (basic)"	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.408C>A	12.37:g.53241882G>T	ENSP00000306261:p.Asn136Lys					KRT78_ENST00000304620.4_Missense_Mutation_p.N136K	p.N26K			Q8N1N4	K2C78_HUMAN			2	89	-			136			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.78C>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246546	0.80024	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;D	0.97959	-2.85;-4.63	5.12	4.21	0.49690	Filament (1);	.	.	.	.	D	0.99105	0.9692	H	0.98089	4.145	0.31692	N	0.641758	D	0.89917	1.0	D	0.91635	0.999	D	0.97186	0.9854	9	0.87932	D	0	.	9.456	0.38756	0.1523:0.0:0.8477:0.0	.	136	Q8N1N4	K2C78_HUMAN	K	26;136	ENSP00000352479:N26K;ENSP00000306261:N136K	ENSP00000306261:N136K	N	-	3	2	KRT78	51528149	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.704000	0.68347	2.546000	0.85860	0.555000	0.69702	AAC		0.602	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		8	18	1	0	1.12685e-05	1	1.18051e-05	8	18					T	53241882	G	T	53241882	3	4	101	1	0	0	0	0	1	0	0	0	8491	1368	48	5	1186	5	KRT78	12	53241882	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08	4072666	53241882	80610013	11	1852										
HERC1	8925	broad.mit.edu	37	chr15	64005579	64005579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	taagtccacccccttcagagGcacttgttgaaggttgctgc	10	12	1	2			TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr15:64005579G>A	ENST00000443617.2	-	23	4523	c.4436C>T	c.(4435-4437)gCc>gTc	p.A1479V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1479					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCTTCAGAGGCACTTGTTGA	0.448																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(4435-4437)gCc>gTc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							71	72	72					15																	64005579		2009	4162	6171	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64005579G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4436C>T	15.37:g.64005579G>A	ENSP00000390158:p.Ala1479Val					RP11-317G6.1_ENST00000559303.2_RNA	p.A1479V	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			23	4523	-			1479					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.4436C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247139	0.59103	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.23950	1.88	5.34	5.34	0.76211	.	0.472681	0.21560	N	0.072582	T	0.18045	0.0433	N	0.08118	0	0.39219	D	0.963469	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.007	T	0.10636	-1.0621	10	0.66056	D	0.02	.	19.419	0.94713	0.0:0.0:1.0:0.0	.	463;1479	B4DKS2;Q15751	.;HERC1_HUMAN	V	1479;463	ENSP00000390158:A1479V	ENSP00000389613:A463V	A	-	2	0	HERC1	61792632	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	6.128000	0.71650	2.658000	0.90341	0.655000	0.94253	GCC		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	71	0	0	0	1	0	4	71					A	64005579	G	A	64005579	3	1	101	1	0	0	0	0	1	0	0	0	7057	1203	42	3	10373	3	HERC1	15	64005579	Missense_Mutation	SNP	G	TCGA-S7-A7WW-01A-11D-A35I-08		64005579	38525813	12	1853										
EVPLL	645027	broad.mit.edu	37	chr17	18284713	18284713	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	agtgagcagagccaggccctGcagcaccagcaggagacggg							TCGA-S7-A7WW-01A-11D-A35I-08	TCGA-S7-A7WW-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81370641-1947-468a-8a05-58c3dbcdd5ea	1c34dd2e-1a09-41bf-819d-62bc7956e879	g.chr17:18284713delG	ENST00000399134.4	+	3	454	c.96delG	c.(94-96)ctgfs	p.L32fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	32										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCAGGCCCTGCAGCACCAGC	0.672																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(94-96)ctfs		envoplakin-like							33	40	38					17																	18284713		692	1591	2283	SO:0001589	frameshift_variant	645027							g.chr17:18284713delG		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.96delG	17.37:g.18284713delG	ENSP00000382086:p.Leu32fs					RP1-37N7.1_ENST00000579352.1_RNA	p.L32fs	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			3	454	+			32					B4DPD4	Frame_Shift_Del	DEL	ENST00000399134.4	37	c.96delG	CCDS45626.1																																																																																				0.672	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		2	4						2	4	---	---	---	---	-	18284713	G	-	18284713	7	5	101	1	0	1	0	1	0	0	0	0	5293	1306	46	0	102	0	EVPLL	17	18284713	Frame_Shift_Del	DEL	G	TCGA-S7-A7WW-01A-11D-A35I-08		18284713	62910497	13	1854										
P2RY1	5028	broad.mit.edu	37	chr3	152554691	152554691	+	Nonstop_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaatggagatacaagcctgTgaaggcacaagaatctccaa	10	8	1	4			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr3:152554691T>A	ENST00000305097.3	+	1	1956	c.1120T>A	c.(1120-1122)Tga>Aga	p.*374R	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	0					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TACAAGCCTGTGAAGGCACAA	0.383																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(1120-1122)Tga>Aga		purinergic receptor P2Y, G-protein coupled, 1							32	33	33					3																	152554691		2139	4096	6235	SO:0001578	stop_lost	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554691T>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.1120T>A	3.37:g.152554691T>A	ENSP00000304767:p.*374Argext*31						p.*374R	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1956	+			0						Nonstop_Mutation	SNP	ENST00000305097.3	37	c.1120T>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658031	0.47467	.	.	ENSG00000169860	ENST00000305097	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7248	0.69336	0.0:0.0:0.0:1.0	.	.	.	.	R	374	.	.	X	+	1	0	P2RY1	154037381	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.360000	0.79487	2.067000	0.61834	0.455000	0.32223	TGA		0.383	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		6	19	0	0	0	1	0	6	19					A	152554691	T	A	152554691	4	1	102	1	0	0	0	0	0	0	0	0	11346	1709	59	5	1122	5	P2RY1	3	152554691	Nonstop_Mutation	SNP	T	TCGA-S7-A7WX-01A-11D-A35I-08		152554691	45467739	1	1855										
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	13	10	0	0	rs62344938		TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16	20	18					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	18	0	0	0	1	0	3	18					T	140811117	C	T	140811117	2	4	102	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811117	Silent	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		140811117	50343159	2	1856										
PRPH2	5961	broad.mit.edu	37	chr6	42689799	42689799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagccagggcttccatctggCatacttggctgggtccaggg	14	12	1	0			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr6:42689799C>T	ENST00000230381.5	-	1	513	c.274G>A	c.(274-276)Gcc>Acc	p.A92T		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	92					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TTCCATCTGGCATACTTGGCT	0.547																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(274-276)Gcc>Acc		peripherin 2 (retinal degeneration, slow)							68	61	63					6																	42689799		2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689799C>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.274G>A	6.37:g.42689799C>T	ENSP00000230381:p.Ala92Thr						p.A92T	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	513	-	Colorectal(47;0.196)		92					Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.274G>A	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475095	0.26511	.	.	ENSG00000112619	ENST00000230381	T	0.79033	-1.23	5.81	1.89	0.25635	.	0.387488	0.30969	N	0.008513	T	0.45994	0.1370	L	0.35723	1.085	0.40401	D	0.979643	B	0.18013	0.025	B	0.22152	0.038	T	0.32295	-0.9912	10	0.14656	T	0.56	.	8.1434	0.31097	0.1139:0.6948:0.0:0.1914	.	92	P23942	PRPH2_HUMAN	T	92	ENSP00000230381:A92T	ENSP00000230381:A92T	A	-	1	0	PRPH2	42797777	0.608000	0.26966	0.933000	0.37362	0.845000	0.48019	1.154000	0.31688	0.805000	0.34159	-0.140000	0.14226	GCC		0.547	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		16	48	0	0	0	1	0	16	48					T	42689799	C	T	42689799	3	4	102	1	0	0	0	0	1	0	0	0	12577	710	25	3	778	3	PRPH2	6	42689799	Missense_Mutation	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		42689799	128425268	3	1857										
NPC1L1	29881	broad.mit.edu	37	chr7	44560645	44560645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaccagggaagatacttaTggaactgctccaccgagggc	13	10	0	1			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr7:44560645T>C	ENST00000289547.4	-	13	3081	c.3026A>G	c.(3025-3027)cAt>cGt	p.H1009R	NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963R|NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1009R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1009					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGATACTTATGGAACTGCTC	0.557																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3025-3027)cAt>cGt		NPC1-like 1	Ezetimibe(DB00973)						156	158	157					7																	44560645		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560645T>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3026A>G	7.37:g.44560645T>C	ENSP00000289547:p.His1009Arg					NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1009R|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963R	p.H1009R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			13	3081	-			1009					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3026A>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	T	9.444	1.088708	0.20390	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.92647	-2.98;-2.97;-3.08	5.26	4.1	0.47936	.	0.331962	0.29233	N	0.012751	D	0.83663	0.5303	N	0.20328	0.56	0.26848	N	0.968223	B;B;B;B	0.22480	0.006;0.001;0.034;0.07	B;B;B;B	0.23018	0.001;0.0;0.031;0.043	T	0.69964	-0.5002	10	0.22109	T	0.4	-16.3602	9.2648	0.37634	0.0:0.0869:0.0:0.9131	.	963;1009;1009;1009	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	R	1009;1009;963	ENSP00000289547:H1009R;ENSP00000370552:H1009R;ENSP00000438033:H963R	ENSP00000289547:H1009R	H	-	2	0	NPC1L1	44527170	1.000000	0.71417	0.996000	0.52242	0.694000	0.40290	3.408000	0.52651	0.845000	0.35118	0.477000	0.44152	CAT		0.557	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		6	166	0	0	0	1	0	6	166					C	44560645	T	C	44560645	3	2	102	1	0	0	0	0	1	0	0	0	10571	1464	51	4	1085	4	NPC1L1	7	44560645	Missense_Mutation	SNP	T	TCGA-S7-A7WX-01A-11D-A35I-08		44560645	114578018	4	1858										
KCND2	3751	broad.mit.edu	37	chr7	119914730	119914730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgccttttgcaagggcagCggctatcgggtggatgcctg	16	10	0	0			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr7:119914730C>T	ENST00000331113.4	+	1	1009	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	15	Interaction with KCNIP2.				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)			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)	GCAAGGGCAGCGGCTATCGGG	0.602																																						ENST00000331113.4																			0				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.(43-45)gCg>gTg		potassium voltage-gated channel, Shal-related subfamily, member 2							78	93	88					7																	119914730		2199	4300	6499	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914730C>T	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.44C>T	7.37:g.119914730C>T	ENSP00000333496:p.Ala15Val						p.A15V	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1009	+	all_neural(327;0.117)		15			Interaction with KCNIP2.		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.44C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973435	0.92919	.	.	ENSG00000184408	ENST00000331113	D	0.97731	-4.51	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99211	1.0876	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	15	Q9NZV8	KCND2_HUMAN	V	15	ENSP00000333496:A15V	.	A	+	2	0	KCND2	119701966	1.000000	0.71417	0.807000	0.32361	0.971000	0.66376	6.051000	0.71072	2.603000	0.88011	0.655000	0.94253	GCG		0.602	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		12	209	0	0	0	1	0	12	209					T	119914730	C	T	119914730	3	4	102	1	0	0	0	0	1	0	0	0	8019	768	27	1	46	1	KCND2	7	119914730	Missense_Mutation	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08	75354085	119914730	39223933	5	1859										
MICAL2	9645	broad.mit.edu	37	chr11	12243220	12243220	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccatgggtacaggctgtgcCcgtggcttcctggcagcctt	13	14	0	0			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr11:12243220C>T	ENST00000256194.4	+	10	1524	c.1236C>T	c.(1234-1236)gcC>gcT	p.A412A	MICAL2_ENST00000537344.1_Silent_p.A412A|MICAL2_ENST00000527546.1_Silent_p.A412A|MICAL2_ENST00000342902.5_Silent_p.A412A|MICAL2_ENST00000379612.3_Silent_p.A412A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	412	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGCTGTGCCCGTGGCTTCC	0.547																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1234-1236)gcC>gcT		microtubule associated monooxygenase, calponin and LIM domain containing 2							123	111	115					11																	12243220		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12243220C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1236C>T	11.37:g.12243220C>T						MICAL2_ENST00000379612.3_Silent_p.A412A|MICAL2_ENST00000537344.1_Silent_p.A412A|MICAL2_ENST00000527546.1_Silent_p.A412A|MICAL2_ENST00000342902.5_Silent_p.A412A	p.A412A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	10	1524	+			412					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.1236C>T	CCDS7809.1																																																																																				0.547	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		6	90	0	0	0	1	0	6	90					T	12243220	C	T	12243220	2	4	102	1	0	0	0	0	0	0	0	1	9570	610	22	3		3	MICAL2	11	12243220	Silent	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		12243220	122763296	6	1860										
C12orf51	283450	broad.mit.edu	37	chr12	112654134	112654135	+	Frame_Shift_Del	DEL	TG	TG	-													0	0	1	0	0	0	1	1	0	ctaagcgaacgctcttccacTgtaacaaactggagccatta							TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr12:112654134_112654135delTG	ENST00000430131.2	-	47	7305_7306	c.6160_6161delCA	c.(6160-6162)cagfs	p.Q2054fs	HECTD4_ENST00000550722.1_Frame_Shift_Del_p.Q2330fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.Q2304fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2054					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTCTTCCACTGTAACAAACTG	0.495																																						ENST00000550722.1																			0											c.(6988-6990)gfs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112654134_112654135delTG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6160_6161delCA	12.37:g.112654134_112654135delTG	ENSP00000404379:p.Gln2054fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.Q2054fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.Q2304fs	p.Q2330fs	NM_001109662.3	NP_001103132.3					48	7383_7384	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.6988_6989delCA																																																																																					0.495	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		2	4						2	4	---	---	---	---	-	112654135	TG	-	112654134	7	5	102	1	0	1	0	1	0	0	0	0	1696	1580	55	0	5945	0	C12orf51	12	112654134	Frame_Shift_Del	DEL	TG	TCGA-S7-A7WX-01A-11D-A35I-08		112654134	21197761	7	1861										
IL27	55911	broad.mit.edu	37	chr16	28511175	28511177	+	IGR	DEL	TCT	TCT	-													0	0	1	0	0	0	1	1	0	ccctgggagcagccccttccTctcctcctcctcctcctcct							TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr16:28511175_28511177delTCT	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_In_Frame_Del_p.176_177ER>G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGCCCCTtcctctcctcctcctc	0.68																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(526-531)ggg>g		interleukin 27																																				SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28511175_28511177delTCT	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511175_28511177delTCT							p.ER176del	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			5	549_551	-			176			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.527_529delAGA																																																																																					0.68	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		4	8						4	8	---	---	---	---	-	28511177	TCT	-	28511175	6	5	102	0	1	1	0	1	0	0	0	0	7680	1550	54	0		0	IL27	16	28511175	IGR	DEL	TCT	TCGA-S7-A7WX-01A-11D-A35I-08		28511175	61843578	8	1862										
PIGW	284098	broad.mit.edu	37	chr17	34894046	34894046	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	taaatgtagaagcagtatctCgaagaatggcaaatttagcc	9	6	1	2			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr17:34894046C>T	ENST00000592983.1	+	2	1676	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366*|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	366					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGTATCTCGAAGAATGGC	0.343																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1096-1098)Cga>Tga		phosphatidylinositol glycan anchor biosynthesis, class W							72	70	71					17																	34894046		2203	4300	6503	SO:0001587	stop_gained	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894046C>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1096C>T	17.37:g.34894046C>T	ENSP00000468778:p.Arg366*					PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366*|MYO19_ENST00000590081.1_Intron	p.R366*			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1676	+		Breast(25;0.00957)|Ovarian(249;0.17)	366					Q8N9G3	Nonsense_Mutation	SNP	ENST00000592983.1	37	c.1096C>T	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017153	0.93404	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.79	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2047	14.1629	0.65457	0.417:0.583:0.0:0.0	.	.	.	.	X	366	.	.	R	+	1	2	PIGW	31968159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.569000	0.53827	0.719000	0.32188	0.561000	0.74099	CGA		0.343	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		23	31	0	0	0	1	0	23	31					T	34894046	C	T	34894046	4	4	102	1	0	0	0	0	0	1	0	0	11902	876	31	2	1098	2	PIGW	17	34894046	Nonsense_Mutation	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		34894046	46301164	9	1863										
AXL	558	broad.mit.edu	37	chr19	41749573	41749573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactggtagtcaggtaccgcGtgcgcaagtcctacagtcgt	12	11	1	0	rs144824336		TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr19:41749573G>A	ENST00000301178.4	+	12	1688	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	AXL_ENST00000359092.3_Missense_Mutation_p.V491M|AXL_ENST00000593513.1_Missense_Mutation_p.V232M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	500					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)			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						CAGGTACCGCGTGCGCAAGTC	0.557																																						ENST00000301178.4																			0				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.(1498-1500)Gtg>Atg		AXL receptor tyrosine kinase		G	MET/VAL,MET/VAL	0,4406		0,0,2203	173	150	158		1471,1498	3.9	0.9	19	dbSNP_134	158	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	possibly-damaging,possibly-damaging	491/886,500/895	41749573	1,13005	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41749573G>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.1498G>A	19.37:g.41749573G>A	ENSP00000301178:p.Val500Met					AXL_ENST00000359092.3_Missense_Mutation_p.V491M|AXL_ENST00000593513.1_Missense_Mutation_p.V232M	p.V500M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			12	1688	+			500					Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1498G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.431393	0.83776	0.0	1.16E-4	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75704	-0.96;-0.92	3.9	3.9	0.45041	.	0.228534	0.36101	N	0.002798	T	0.71813	0.3384	L	0.29908	0.895	0.36575	D	0.873207	D;D	0.62365	0.991;0.985	P;P	0.51516	0.672;0.472	T	0.80759	-0.1239	10	0.87932	D	0	-9.7724	15.2126	0.73238	0.0:0.0:1.0:0.0	.	491;500	P30530-2;P30530	.;UFO_HUMAN	M	500;491	ENSP00000301178:V500M;ENSP00000351995:V491M	ENSP00000301178:V500M	V	+	1	0	AXL	46441413	1.000000	0.71417	0.851000	0.33527	0.981000	0.71138	6.173000	0.71937	2.177000	0.69029	0.549000	0.68633	GTG		0.557	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	132	0	0	0	1	0	5	132					A	41749573	G	A	41749573	3	1	102	1	0	0	0	0	1	0	0	0	1238	1145	40	1	1544	1	AXL	19	41749573	Missense_Mutation	SNP	G	TCGA-S7-A7WX-01A-11D-A35I-08		41749573	17379410	10	1864										
LAMA5	3911	broad.mit.edu	37	chr20	60886280	60886280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggacagggaacccccaaaCtggtaggagtctcgggtggt	15	10	1	0			TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chr20:60886280C>T	ENST00000252999.3	-	73	10092	c.10026G>A	c.(10024-10026)caG>caA	p.Q3342Q	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3342	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AACCCCCAAACTGGTAGGAGT	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10024-10026)caG>caA		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						54	52	53					20																	60886280		2198	4296	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60886280C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10026G>A	20.37:g.60886280C>T							p.Q3342Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		73	10092	-	Breast(26;1.57e-08)		3342			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10026G>A	CCDS33502.1																																																																																				0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		10	23	0	0	0	1	0	10	23					T	60886280	C	T	60886280	2	4	102	1	0	0	0	0	0	0	0	1	8609	564	20	3		3	LAMA5	20	60886280	Silent	SNP	C	TCGA-S7-A7WX-01A-11D-A35I-08		60886280	2139240	11	1865										
NAP1L2	4674	broad.mit.edu	37	chrX	72433372	72433372	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaatcgcagttcccctataGggatggggatcataatatgc	10	9	2	0	rs199984283		TCGA-S7-A7WX-01A-11D-A35I-08	TCGA-S7-A7WX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6daca770-9655-4159-a5bd-09065d684629	199e0ae8-07df-41ee-b4bb-13464fcac026	g.chrX:72433372G>C	ENST00000373517.3	-	1	1312	c.957C>G	c.(955-957)ccC>ccG	p.P319P	NAP1L2_ENST00000536638.1_Silent_p.P177P	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	319					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTCCCCTATAGGGATGGGGAT	0.378																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(955-957)ccC>ccG		nucleosome assembly protein 1-like 2							112	104	107					X																	72433372		2203	4299	6502	SO:0001819	synonymous_variant	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433372G>C	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.957C>G	X.37:g.72433372G>C						NAP1L2_ENST00000536638.1_Silent_p.P177P	p.P319P	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1312	-	Renal(35;0.156)		319					B2RE61|B4E161|Q8TAN6	Silent	SNP	ENST00000373517.3	37	c.957C>G	CCDS14423.1																																																																																				0.378	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		5	59	0	0	0	1	0	5	59					C	72433372	G	C	72433372	2	2	102	1	0	0	0	0	0	0	0	1	10157	987	35	5		5	NAP1L2	23	72433372	Silent	SNP	G	TCGA-S7-A7WX-01A-11D-A35I-08		72433372	82837188	12	1866										
HSPG2	3339	broad.mit.edu	37	chr1	22157966	22157966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	gggggctcacctatgaagccGctgctcagccccgccttggg	14	15	2	1	rs562275583		TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:22157966G>A	ENST00000374695.3	-	83	11521	c.11442C>T	c.(11440-11442)agC>agT	p.S3814S	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3814	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTATGAAGCCGCTGCTCAGCC	0.642													g|||	1	0.000199681	0	0	5008	,	,		18159	0		0	False		,,,				2504	0.001					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(11440-11442)agC>agT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						50	53	52					1																	22157966		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157966G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11442C>T	1.37:g.22157966G>A							p.S3814S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	83	11521	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3814			Laminin G-like 1.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.11442C>T	CCDS30625.1																																																																																				0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	24	0	0	0	1	0	4	24					A	22157966	G	A	22157966	2	1	103	1	0	0	0	0	0	0	0	1	7430	1078	38	1		1	HSPG2	1	22157966	Silent	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		22157966	227092655	1	1867										
OR2L2	26246	broad.mit.edu	37	chr1	248202447	248202447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	catcatctacagcctgagaaAcaaggaggtgatgggggccc	13	10	2	2			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr1:248202447A>G	ENST00000366479.2	+	1	974	c.878A>G	c.(877-879)aAc>aGc	p.N293S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGCCTGAGAAACAAGGAGGTG	0.473																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(877-879)aAc>aGc		olfactory receptor, family 2, subfamily L, member 2							79	78	78					1																	248202447		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202447A>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.878A>G	1.37:g.248202447A>G	ENSP00000355435:p.Asn293Ser					OR2L13_ENST00000366478.2_Intron	p.N293S	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	974	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		293					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.878A>G	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822829	0.32237	.	.	ENSG00000203663	ENST00000366479	T	0.39997	1.05	1.9	0.66	0.17868	.	.	.	.	.	T	0.53753	0.1816	M	0.69463	2.115	0.22581	N	0.998962	D	0.67145	0.996	P	0.62184	0.899	T	0.42032	-0.9475	9	0.87932	D	0	.	6.3852	0.21556	0.7798:0.0:0.0:0.2202	.	293	Q8NH16	OR2L2_HUMAN	S	293	ENSP00000355435:N293S	ENSP00000355435:N293S	N	+	2	0	OR2L2	246269070	0.018000	0.18449	0.978000	0.43139	0.573000	0.36030	0.537000	0.23144	-0.082000	0.12640	0.163000	0.16589	AAC		0.473	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		3	51	0	0	0	1	0	3	51					G	248202447	A	G	248202447	3	3	103	1	0	0	0	0	1	0	0	0	11007	43	2	4	880	4	OR2L2	1	248202447	Missense_Mutation	SNP	A	TCGA-S7-A7X0-01A-12D-A35I-08	226044481	248202447	1048174	2	1868										
EPAS1	2034	broad.mit.edu	37	chr2	46607402	46607402	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	tggacttggagacactggcaCcctatatccccatggacggg	12	12	0	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr2:46607402C>G	ENST00000263734.3	+	12	2101	c.1591C>G	c.(1591-1593)Ccc>Gcc	p.P531A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	531	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACACTGGCACCCTATATCCC	0.587																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1591-1593)Ccc>Gcc		endothelial PAS domain protein 1							85	93	91					2																	46607402		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607402C>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1591C>G	2.37:g.46607402C>G	ENSP00000263734:p.Pro531Ala						p.P531A	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2101	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	531			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1591C>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783223	0.90282	.	.	ENSG00000116016	ENST00000263734	D	0.99511	-6.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98897	1.0775	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	531	Q99814	EPAS1_HUMAN	A	531	ENSP00000263734:P531A	ENSP00000263734:P531A	P	+	1	0	EPAS1	46460906	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	CCC		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		34	72	0	0	0	1	0	34	72					G	46607402	C	G	46607402	3	3	103	1	0	0	0	0	1	0	0	0	5150	507	18	5	1637	5	EPAS1	2	46607402	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08		46607402	196591971	3	1869										
BSN	8927	broad.mit.edu	37	chr3	49693162	49693162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	tttggctcacccgcttcccaTgcggcgctatagctcagtgt	10	14	2	0			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr3:49693162T>G	ENST00000296452.4	+	5	6287	c.6173T>G	c.(6172-6174)aTg>aGg	p.M2058R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2058					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGCTTCCCATGCGGCGCTAT	0.602																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(6172-6174)aTg>aGg		bassoon presynaptic cytomatrix protein							108	101	103					3																	49693162		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693162T>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6173T>G	3.37:g.49693162T>G	ENSP00000296452:p.Met2058Arg						p.M2058R	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6287	+			2058					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6173T>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489184	0.26686	.	.	ENSG00000164061	ENST00000296452	T	0.20332	2.08	5.34	5.34	0.76211	.	0.147890	0.64402	D	0.000007	T	0.25901	0.0631	L	0.57536	1.79	0.49130	D	0.999758	P	0.37955	0.612	B	0.37943	0.261	T	0.03784	-1.1004	10	0.62326	D	0.03	-7.3243	15.3196	0.74112	0.0:0.0:0.0:1.0	.	2058	Q9UPA5	BSN_HUMAN	R	2058	ENSP00000296452:M2058R	ENSP00000296452:M2058R	M	+	2	0	BSN	49668166	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.033000	0.88852	2.020000	0.59435	0.459000	0.35465	ATG		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	29	0	0	0	1	0	4	29					G	49693162	T	G	49693162	3	3	103	1	0	0	0	0	1	0	0	0	1530	1464	51	5	6191	5	BSN	3	49693162	Missense_Mutation	SNP	T	TCGA-S7-A7X0-01A-12D-A35I-08		49693162	148329268	4	1870										
TMCC1	23023	broad.mit.edu	37	chr3	129389998	129389998	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	gagcaatggcagcctttgtgCgctgagggtctggtgttcca	15	9	1	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr3:129389998C>A	ENST00000393238.3	-	4	1026	c.686G>T	c.(685-687)cGc>cTc	p.R229L	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000426664.2_Missense_Mutation_p.R115L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R50L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	229						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGCCTTTGTGCGCTGAGGGTC	0.532																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(685-687)cGc>cTc		transmembrane and coiled-coil domain family 1							147	142	143					3																	129389998		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389998C>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.686G>T	3.37:g.129389998C>A	ENSP00000376930:p.Arg229Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.R115L|TMCC1_ENST00000329333.5_Missense_Mutation_p.R50L|TMCC1_ENST00000432054.2_5'UTR	p.R229L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1026	-			229					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.686G>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934060	0.92458	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000329333	T;T;T	0.46819	0.86;0.86;0.86	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.80028	2.48	0.80722	D	1	D;P	0.55385	0.971;0.895	D;P	0.67725	0.953;0.65	T	0.72734	-0.4204	10	0.56958	D	0.05	-14.9558	19.8814	0.96900	0.0:1.0:0.0:0.0	.	50;229	B4DE04;O94876	.;TMCC1_HUMAN	L	229;115;50	ENSP00000376930:R229L;ENSP00000389892:R115L;ENSP00000327349:R50L	ENSP00000327349:R50L	R	-	2	0	TMCC1	130872688	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.745000	0.85046	2.778000	0.95560	0.591000	0.81541	CGC		0.532	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	96	1	0	0.00909568	1	0.00909568	4	96					A	129389998	C	A	129389998	3	1	103	1	0	0	0	0	1	0	0	0	15989	768	27	5	1287	5	TMCC1	3	129389998	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	79696836	129389998	68632432	5	1871										
C4orf19	55286	broad.mit.edu	37	chr4	37590515	37590515	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	gtgcaggtgctgtaaaataaTacaaaggtaaagctggagaa	12	4	0	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr4:37590515T>A	ENST00000284437.6	+	2	204	c.26T>A	c.(25-27)aTa>aAa	p.I9K	C4orf19_ENST00000381980.4_Missense_Mutation_p.I9K|C4orf19_ENST00000508175.1_Missense_Mutation_p.I9K|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	9										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						TGTAAAATAATACAAAGGTAA	0.398																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(25-27)aTa>aAa		chromosome 4 open reading frame 19							98	95	96					4																	37590515		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37590515T>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.26T>A	4.37:g.37590515T>A	ENSP00000284437:p.Ile9Lys					C4orf19_ENST00000381980.4_Missense_Mutation_p.I9K|C4orf19_ENST00000508175.1_Missense_Mutation_p.I9K	p.I9K	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			2	204	+			9					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.26T>A	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377644	0.82682	.	.	ENSG00000154274	ENST00000381980;ENST00000508175;ENST00000284437	T;T	0.33438	1.41;1.41	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.52725	0.1752	M	0.61703	1.905	0.53688	D	0.999972	D	0.89917	1.0	D	0.75484	0.986	T	0.54990	-0.8210	10	0.87932	D	0	-10.8045	14.4297	0.67240	0.0:0.0:0.0:1.0	.	9	Q8IY42	CD019_HUMAN	K	9	ENSP00000371408:I9K;ENSP00000284437:I9K	ENSP00000284437:I9K	I	+	2	0	C4orf19	37266910	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.037000	0.64170	2.333000	0.79357	0.482000	0.46254	ATA		0.398	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		4	32	0	0	0	1	0	4	32					A	37590515	T	A	37590515	3	1	103	1	0	0	0	0	1	0	0	0	2253	1406	49	5	28	5	C4orf19	4	37590515	Missense_Mutation	SNP	T	TCGA-S7-A7X0-01A-12D-A35I-08		37590515	153563761	6	1872										
DNAH5	1767	broad.mit.edu	37	chr5	13793658	13793658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	acagaagcttcagagggcaaCgtgcaattaaatatagagaa	10	6	1	3			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr5:13793658C>T	ENST00000265104.4	-	49	8294	c.8190G>A	c.(8188-8190)acG>acA	p.T2730T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2730	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAGGGCAACGTGCAATTAA	0.478									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(8188-8190)acG>acA		dynein, axonemal, heavy chain 5							136	139	138					5																	13793658		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13793658C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8190G>A	5.37:g.13793658C>T							p.T2730T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			49	8294	-	Lung NSC(4;0.00476)		2730			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.8190G>A	CCDS3882.1																																																																																				0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	92	0	0	0	1	0	10	92					T	13793658	C	T	13793658	2	4	103	1	0	0	0	0	0	0	0	1	4604	523	19	1		1	DNAH5	5	13793658	Silent	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08		13793658	167121602	7	1873										
PHF15	23338	broad.mit.edu	37	chr5	133895558	133895558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	aggcccccctgcccaggcatCcccgagcagcaccatgcttg	10	19	0	0			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr5:133895558C>T	ENST00000402835.1	+	5	605	c.350C>T	c.(349-351)tCc>tTc	p.S117F	PHF15_ENST00000282605.4_Missense_Mutation_p.S117F|PHF15_ENST00000361895.2_Missense_Mutation_p.S117F|PHF15_ENST00000395003.1_Missense_Mutation_p.S117F																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCAGGCATCCCCGAGCAGC	0.622																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(349-351)tCc>tTc									49	46	47					5																	133895558		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133895558C>T																												ENST00000402835.1:c.350C>T	5.37:g.133895558C>T	ENSP00000384671:p.Ser117Phe					PHF15_ENST00000282605.4_Missense_Mutation_p.S117F|PHF15_ENST00000402835.1_Missense_Mutation_p.S117F|PHF15_ENST00000361895.2_Missense_Mutation_p.S117F	p.S117F	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	529	+			117						Missense_Mutation	SNP	ENST00000402835.1	37	c.350C>T		.	.	.	.	.	.	.	.	.	.	C	19.66	3.868302	0.72065	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.84	4.95	0.65309	Enhancer of polycomb-like, N-terminal (1);	0.756002	0.12459	N	0.467117	T	0.46541	0.1398	L	0.40543	1.245	0.38512	D	0.948509	B;B;B;B;B	0.30406	0.085;0.192;0.085;0.278;0.195	B;B;B;B;B	0.41412	0.251;0.356;0.251;0.173;0.356	T	0.49818	-0.8899	10	0.72032	D	0.01	.	14.3145	0.66440	0.0:0.852:0.148:0.0	.	117;117;117;117;133	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	F	117;117;133;117;117;117;117;117;117	ENSP00000422991:S117F;ENSP00000282605:S117F;ENSP00000354425:S117F;ENSP00000384671:S117F;ENSP00000378451:S117F;ENSP00000406189:S117F	ENSP00000282605:S117F	S	+	2	0	PHF15	133923457	1.000000	0.71417	0.528000	0.27938	0.008000	0.06430	4.319000	0.59197	1.437000	0.47472	0.561000	0.74099	TCC		0.622	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			9	13	0	0	0	1	0	9	13					T	133895558	C	T	133895558	3	4	103	1	0	0	0	0	1	0	0	0	11826	855	30	3	364	3	PHF15	5	133895558	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	120101900	133895558	47019702	8	1874										
AHI1	54806	broad.mit.edu	37	chr6	135752363	135752363	+	Frame_Shift_Del	DEL	G	G	-													0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	taccttatttatagtccagtGgtgcactgaatgttccaaat							TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr6:135752363delG	ENST00000367800.4	-	15	2572	c.2356delC	c.(2356-2358)cacfs	p.H786fs	AHI1_ENST00000417892.2_Frame_Shift_Del_p.H140fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.H786fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.H786fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	786					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATAGTCCAGTGGTGCACTGAA	0.303																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(2356-2358)acfs		Abelson helper integration site 1							65	59	61					6																	135752363		1810	4066	5876	SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135752363delG	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.2356delC	6.37:g.135752363delG	ENSP00000356774:p.His786fs					AHI1_ENST00000327035.6_Frame_Shift_Del_p.H786fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.H786fs|AHI1_ENST00000417892.2_Frame_Shift_Del_p.H140fs	p.H786fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	15	2572	-	Breast(56;0.239)|Colorectal(23;0.24)		786					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Del	DEL	ENST00000367800.4	37	c.2356delC	CCDS47483.1																																																																																				0.303	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		2	4						2	4	---	---	---	---	-	135752363	G	-	135752363	7	5	103	1	0	1	0	1	0	0	0	0	413	1348	47	0	1343	0	AHI1	6	135752363	Frame_Shift_Del	DEL	G	TCGA-S7-A7X0-01A-12D-A35I-08		135752363	35362704	9	1875										
CARD11	84433	broad.mit.edu	37	chr7	2968246	2968246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	acccacctgcgatggggcgcGtcctccttgtagcgtctgac	12	15	1	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1738-1740)gaC>gaT		caspase recruitment domain family, member 11							84	71	76					7																	2968246		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968246G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1740C>T	7.37:g.2968246G>A							p.D580D	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2143	-		Ovarian(82;0.0115)	580					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1740C>T	CCDS5336.2																																																																																				0.657	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		5	64	0	0	0	1	0	5	64					A	2968246	G	A	2968246	2	1	103	1	0	0	0	0	0	0	0	1	2645	1136	40	1		1	CARD11	7	2968246	Silent	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		2968246	156170417	10	1876										
MLH3	27030	broad.mit.edu	37	chr14	75508331	75508331	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	gacccacctctggataacggGcaaatactggattgtcccat	9	12	1	0			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr14:75508331G>A	ENST00000556740.1	-	3	3487	c.3452C>T	c.(3451-3453)gCc>gTc	p.A1151V	MLH3_ENST00000355774.2_Missense_Mutation_p.A1151V|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.A1151V|MLH3_ENST00000380968.2_Missense_Mutation_p.A97V|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000544985.1_Missense_Mutation_p.A146V			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1151					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGATAACGGGCAAATACTGG	0.388								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3451-3453)gCc>gTc	Mismatch excision repair (MMR)	mutL homolog 3							122	104	110					14																	75508331		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75508331G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3452C>T	14.37:g.75508331G>A	ENSP00000452316:p.Ala1151Val					MLH3_ENST00000238662.7_Missense_Mutation_p.A1151V|MLH3_ENST00000555671.1_Intron|MLH3_ENST00000556740.1_Missense_Mutation_p.A1151V|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000544985.1_Missense_Mutation_p.A146V|MLH3_ENST00000380968.2_Missense_Mutation_p.A97V	p.A1151V	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	4	3667	-			1151					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3452C>T	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940852|2.940852	0.52972|0.52972	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.80566|.	-1.39;0.66;-1.3;-1.39;0.58|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.325148|.	0.37577|.	N|.	0.002029|.	T|T	0.47173|0.47173	0.1431|0.1431	L|L	0.36672|0.36672	1.1|1.1	0.29312|0.29312	N|N	0.867957|0.867957	B;B|.	0.26744|.	0.158;0.058|.	B;B|.	0.26416|.	0.069;0.012|.	T|T	0.43702|0.43702	-0.9375|-0.9375	10|5	0.39692|.	T|.	0.17|.	-3.8281|-3.8281	13.966|13.966	0.64209|0.64209	0.0777:0.0:0.9223:0.0|0.0777:0.0:0.9223:0.0	.|.	1151;1151|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	V|S	1151;97;1151;1151;146|175	ENSP00000348020:A1151V;ENSP00000370355:A97V;ENSP00000238662:A1151V;ENSP00000452316:A1151V;ENSP00000441371:A146V|.	ENSP00000238662:A1151V|.	A|P	-|-	2|1	0|0	MLH3|MLH3	74578084|74578084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.949000|3.949000	0.56668|0.56668	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.388	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		3	30	0	0	0	1	0	3	30					A	75508331	G	A	75508331	3	1	103	1	0	0	0	0	1	0	0	0	9618	1203	42	3	949	3	MLH3	14	75508331	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		75508331	31841209	11	1877										
ITGAM	3684	broad.mit.edu	37	chr16	31273075	31273075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	caatgaccttccaagagaacGcaaggggcttcgggcagagc	13	11	0	3			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr16:31273075G>A	ENST00000287497.8	+	2	166	c.91G>A	c.(91-93)Gca>Aca	p.A31T	ITGAM_ENST00000544665.3_Missense_Mutation_p.A31T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	31					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCAAGAGAACGCAAGGGGCTT	0.517																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(91-93)Gca>Aca		integrin, alpha M (complement component 3 receptor 3 subunit)							64	60	61					16																	31273075		1959	4144	6103	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31273075G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.91G>A	16.37:g.31273075G>A	ENSP00000287497:p.Ala31Thr					ITGAM_ENST00000287497.8_Missense_Mutation_p.A31T	p.A31T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			2	162	+			31					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.91G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425892	0.43020	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.72505	-0.66;-0.66	5.13	5.13	0.70059	.	.	.	.	.	T	0.71913	0.3396	M	0.64404	1.975	0.09310	N	1	P;P	0.47350	0.894;0.894	P;P	0.44422	0.449;0.449	T	0.67829	-0.5569	9	0.59425	D	0.04	.	14.1377	0.65297	0.0:0.0:1.0:0.0	.	31;31	Q4VAK1;P11215	.;ITAM_HUMAN	T	31	ENSP00000441691:A31T;ENSP00000287497:A31T	ENSP00000287497:A31T	A	+	1	0	ITGAM	31180576	0.255000	0.24002	0.010000	0.14722	0.019000	0.09904	4.816000	0.62642	2.407000	0.81776	0.650000	0.86243	GCA		0.517	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		5	14	0	0	0	1	0	5	14					A	31273075	G	A	31273075	3	1	103	1	0	0	0	0	1	0	0	0	7887	1087	38	1	97	1	ITGAM	16	31273075	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		31273075	59081678	12	1878										
GPATCH8	23131	broad.mit.edu	37	chr17	42476155	42476155	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	tctccactttccttgactggAtcttctccagtagcagtttg	7	12	3	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr17:42476155A>C	ENST00000591680.1	-	8	3320	c.3290T>G	c.(3289-3291)aTc>aGc	p.I1097S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.I1019S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1097							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTTGACTGGATCTTCTCCAG	0.532																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3055-3057)aTc>aGc		G patch domain containing 8							148	119	129					17																	42476155		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476155A>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3290T>G	17.37:g.42476155A>C	ENSP00000467556:p.Ile1097Ser					GPATCH8_ENST00000591680.1_Missense_Mutation_p.I1097S	p.I1019S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3338	-		Prostate(33;0.0181)	1097					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3056T>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.773126	0.49680	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13538	2.58	4.99	4.99	0.66335	.	0.119027	0.56097	D	0.000023	T	0.13841	0.0335	L	0.27053	0.805	0.53688	D	0.999972	D	0.54397	0.966	P	0.46479	0.518	T	0.03795	-1.1003	10	0.37606	T	0.19	-6.2699	14.8659	0.70416	1.0:0.0:0.0:0.0	.	1097	Q9UKJ3	GPTC8_HUMAN	S	1097;1019	ENSP00000395016:I1019S	ENSP00000335486:I1097S	I	-	2	0	GPATCH8	39831681	1.000000	0.71417	0.994000	0.49952	0.568000	0.35870	8.761000	0.91691	2.103000	0.63969	0.528000	0.53228	ATC		0.532	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		3	38	0	0	0	1	0	3	38					C	42476155	A	C	42476155	3	2	103	1	0	0	0	0	1	0	0	0	6594	333	12	5	1222	5	GPATCH8	17	42476155	Missense_Mutation	SNP	A	TCGA-S7-A7X0-01A-12D-A35I-08		42476155	38719055	13	1879										
NDUFS7	374291	broad.mit.edu	37	chr19	1391008	1391008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	agtccgacgtcatgatcgtgGccggcacactcaccaacaag	10	14	2	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:1391008G>A	ENST00000233627.9	+	5	663	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A123T|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000414651.2_Missense_Mutation_p.A153T|NDUFS7_ENST00000313408.7_Missense_Mutation_p.A123T|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	123					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	CATGATCGTGGCCGGCACACT	0.687																																						ENST00000313408.7																			0				ovary(1)	1						c.(367-369)Gcc>Acc		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						53	52	52					19																	1391008		2203	4299	6502	SO:0001583	missense	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1391008G>A	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"Mitochondrial respiratory chain complex / Complex I"	7714	protein-coding gene	gene with protein product	"complex I 20kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"	601825	"NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.367G>A	19.37:g.1391008G>A	ENSP00000233627:p.Ala123Thr					NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.A153T|NDUFS7_ENST00000233627.9_Missense_Mutation_p.A123T|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A123T|NDUFS7_ENST00000539480.1_Missense_Mutation_p.A123T	p.A123T			O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	390	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	123					B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	37	c.367G>A	CCDS12063.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758486	0.49468	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000450862;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.6	4.6	0.57074	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);	.	.	.	.	D	0.82305	0.5008	L	0.48260	1.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	D	0.84653	0.0702	9	0.87932	D	0	.	16.0157	0.80439	0.0:0.0:1.0:0.0	.	123;130;123;123	F5H5N1;Q8NAS7;B3KRI2;O75251	.;.;.;NDUS7_HUMAN	T	123;123;123;123;123;153;42;42;42;42	ENSP00000440348:A123T;ENSP00000233627:A123T;ENSP00000443273:A123T;ENSP00000364262:A123T;ENSP00000406630:A153T	ENSP00000233627:A123T	A	+	1	0	NDUFS7	1342008	1.000000	0.71417	0.682000	0.30024	0.039000	0.13416	9.258000	0.95555	2.100000	0.63781	0.561000	0.74099	GCC		0.687	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		3	23	0	0	0	1	0	3	23					A	1391008	G	A	1391008	3	1	103	1	0	0	0	0	1	0	0	0	10297	1203	42	3	385	3	NDUFS7	19	1391008	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		1391008	57737975	14	1880										
S1PR5	53637	broad.mit.edu	37	chr19	10624929	10624929	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	aaggccaggagcaccacgctGagcgtgcgcagcaaggccag	15	13	0	1			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:10624929G>C	ENST00000439028.3	-	2	884	c.759C>G	c.(757-759)ctC>ctG	p.L253L	S1PR5_ENST00000333430.4_Silent_p.L253L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	253					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GCACCACGCTGAGCGTGCGCA	0.736																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(757-759)ctC>ctG		sphingosine-1-phosphate receptor 5							17	16	16					19																	10624929		2186	4277	6463	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10624929G>C	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.759C>G	19.37:g.10624929G>C						S1PR5_ENST00000333430.4_Silent_p.L253L	p.L253L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	884	-			253					Q6NW11	Silent	SNP	ENST00000439028.3	37	c.759C>G	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	5.493	0.275983	0.10403	.	.	ENSG00000180739	ENST00000359134	.	.	.	4.02	1.69	0.24217	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61063	-0.7138	5	0.51188	T	0.08	.	8.4684	0.32971	0.1086:0.1726:0.7188:0.0	.	.	.	.	E	222	.	ENSP00000352045:Q222E	Q	-	1	0	S1PR5	10485929	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	0.725000	0.25970	0.877000	0.35895	0.491000	0.48974	CAG		0.736	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		3	2	0	0	0	1	0	3	2					C	10624929	G	C	10624929	2	2	103	1	0	0	0	0	0	0	0	1	13797	1277	45	5		5	S1PR5	19	10624929	Silent	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	9233921	10624929	48504054	15	1881										
ILF3	3609	broad.mit.edu	37	chr19	10799870	10799870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	cctaggaggctactcacagtCgaactacaactccccggggt	10	14	1	0			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:10799870C>T	ENST00000590261.1	+	19	2567	c.2567C>T	c.(2566-2568)tCg>tTg	p.S856L	ILF3_ENST00000449870.1_Missense_Mutation_p.S860L|ILF3_ENST00000318511.3_Missense_Mutation_p.S856L|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Missense_Mutation_p.S860L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	856	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TACTCACAGTCGAACTACAAC	0.632																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2578-2580)tCg>tTg		interleukin enhancer binding factor 3, 90kDa							139	149	146					19																	10799870		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799870C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2567C>T	19.37:g.10799870C>T	ENSP00000468156:p.Ser856Leu					ILF3_ENST00000588657.1_Missense_Mutation_p.S860L|ILF3_ENST00000318511.3_Missense_Mutation_p.S856L|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.S856L	p.S860L	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		20	2896	+			856			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2579C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936432	0.73442	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.26373	1.74;1.75	5.32	5.32	0.75619	.	0.205916	0.42548	D	0.000699	T	0.41949	0.1181	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.72982	0.979;0.953	T	0.25641	-1.0126	10	0.87932	D	0	.	17.9328	0.89004	0.0:1.0:0.0:0.0	.	860;856	G5E9M5;Q12906	.;ILF3_HUMAN	L	860;856	ENSP00000404121:S860L;ENSP00000315205:S856L	ENSP00000315205:S856L	S	+	2	0	ILF3	10660870	1.000000	0.71417	0.963000	0.40424	0.990000	0.78478	6.495000	0.73665	2.767000	0.95098	0.655000	0.94253	TCG		0.632	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			12	166	0	0	0	1	0	12	166					T	10799870	C	T	10799870	3	4	103	1	0	0	0	0	1	0	0	0	7712	893	31	2	2725	2	ILF3	19	10799870	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	174941	10799870	48329113	16	1882										
AKAP8L	26993	broad.mit.edu	37	chr19	15508364	15508364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	ctggtctctgtagatttggtGgatgaggccatcaaggtcct	13	8	2	2			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:15508364G>A	ENST00000397410.5	-	11	1502	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	AKAP8L_ENST00000595465.2_Missense_Mutation_p.H397Y|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	458			H -> Q (in dbSNP:rs2058322). {ECO:0000269|PubMed:10748171, ECO:0000269|PubMed:10761695, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:19054851, ECO:0000269|PubMed:21269460, ECO:0000269|Ref.7}.			cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TAGATTTGGTGGATGAGGCCA	0.527																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1372-1374)Cac>Tac		A kinase (PRKA) anchor protein 8-like							134	132	132					19																	15508364		1991	4160	6151	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508364G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1372C>T	19.37:g.15508364G>A	ENSP00000380557:p.His458Tyr					AKAP8L_ENST00000595465.1_Missense_Mutation_p.H397Y	p.H458Y	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			11	1436	-			458	H -> Q (in Ref. 2; CAB65092, 3; AAF86048, 4; BAG70140/BAG70283, 6; EAW84475 and 7; AAH00713).				B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1372C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	g	7.974	0.749790	0.15778	.	.	ENSG00000011243	ENST00000397410	T	0.42513	0.97	5.26	5.26	0.73747	.	0.157953	0.47852	D	0.000218	T	0.25865	0.0630	N	0.08118	0	0.19945	N	0.999949	B	0.02656	0.0	B	0.04013	0.001	T	0.11324	-1.0592	10	0.31617	T	0.26	-6.9986	16.3943	0.83563	0.0:0.0:1.0:0.0	.	458	Q9ULX6	AKP8L_HUMAN	Y	458	ENSP00000380557:H458Y	ENSP00000380557:H458Y	H	-	1	0	AKAP8L	15369364	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.062000	0.64326	2.462000	0.83206	0.556000	0.70494	CAC		0.527	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		3	43	0	0	0	1	0	3	43					A	15508364	G	A	15508364	3	1	103	1	0	0	0	0	1	0	0	0	458	1348	47	3	584	3	AKAP8L	19	15508364	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	4708494	15508364	43620619	17	1883										
ZNF536	9745	broad.mit.edu	37	chr19	30935484	30935484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	agggccccaacggcggtggcGagcagtcggccaacgagttc	16	13	0	0			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:30935484G>A	ENST00000355537.3	+	2	1162	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	339					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGCGGTGGCGAGCAGTCGGC	0.647																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1015-1017)Gag>Aag		zinc finger protein 536							80	92	88					19																	30935484		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935484G>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.1015G>A	19.37:g.30935484G>A	ENSP00000347730:p.Glu339Lys						p.E339K	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1162	+	Esophageal squamous(110;0.0834)		339					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1015G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	8.501	0.864336	0.17250	.	.	ENSG00000198597	ENST00000355537	T	0.09445	2.98	5.59	4.54	0.55810	.	0.206144	0.46145	D	0.000303	T	0.13798	0.0334	L	0.48986	1.54	0.35881	D	0.828948	P;D	0.60575	0.93;0.988	B;B	0.43301	0.178;0.415	T	0.17899	-1.0354	10	0.44086	T	0.13	-36.7615	15.9085	0.79450	0.0:0.0:0.8636:0.1364	.	339;339	A7E228;O15090	.;ZN536_HUMAN	K	339	ENSP00000347730:E339K	ENSP00000347730:E339K	E	+	1	0	ZNF536	35627324	1.000000	0.71417	0.894000	0.35097	0.202000	0.24057	5.522000	0.67092	1.344000	0.45657	0.491000	0.48974	GAG		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	99	0	0	0	1	0	4	99					A	30935484	G	A	30935484	3	1	103	1	0	0	0	0	1	0	0	0	17971	1059	37	2	1017	2	ZNF536	19	30935484	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	15427120	30935484	28193499	18	1884										
CA11	770	broad.mit.edu	37	chr19	49142648	49142648	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	ggtgctgagagagccctgatAggtgatgaagccgaaggatt	16	6	0	5			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:49142648A>G	ENST00000084798.4	-	7	1388	c.709T>C	c.(709-711)Tat>Cat	p.Y237H	DBP_ENST00000222122.5_5'Flank|DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	237						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAGCCCTGATAGGTGATGAAG	0.562																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(709-711)Tat>Cat		carbonic anhydrase XI							71	71	71					19																	49142648		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49142648A>G	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.709T>C	19.37:g.49142648A>G	ENSP00000084798:p.Tyr237His					SEC1P_ENST00000430145.2_RNA	p.Y237H	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	7	1388	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	237					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.709T>C	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888142	0.72524	.	.	ENSG00000063180	ENST00000084798	T	0.80123	-1.34	3.22	3.22	0.36961	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.152412	0.45606	D	0.000358	D	0.90669	0.7073	H	0.96460	3.825	0.50813	D	0.999893	D	0.61080	0.989	D	0.64042	0.921	D	0.91112	0.4923	10	0.87932	D	0	.	8.0781	0.30729	1.0:0.0:0.0:0.0	.	237	O75493	CAH11_HUMAN	H	237	ENSP00000084798:Y237H	ENSP00000084798:Y237H	Y	-	1	0	CA11	53834460	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.628000	0.83189	1.470000	0.48102	0.374000	0.22700	TAT		0.562	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		3	26	0	0	0	1	0	3	26					G	49142648	A	G	49142648	3	3	103	1	0	0	0	0	1	0	0	0	2512	420	15	4	289	4	CA11	19	49142648	Missense_Mutation	SNP	A	TCGA-S7-A7X0-01A-12D-A35I-08	18207164	49142648	9986335	19	1885										
ZNF845	91664	broad.mit.edu	37	chr19	53848849	53848849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	agaggactctatacagggacGtgatgctggagaattatagg	14	5	1	3			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr19:53848849G>T	ENST00000595091.1	+	4	325	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	ZNF845_ENST00000458035.1_Missense_Mutation_p.V36L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATACAGGGACGTGATGCTGGA	0.473																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(106-108)Gtg>Ttg		zinc finger protein 845							72	75	74					19																	53848849		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848849G>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.106G>T	19.37:g.53848849G>T	ENSP00000470005:p.Val36Leu					ZNF845_ENST00000595091.1_Missense_Mutation_p.V36L	p.V36L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			3	223	+			36			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.106G>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238423	0.39598	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03801	3.8	1.85	1.85	0.25348	Krueppel-associated box (4);	.	.	.	.	T	0.29620	0.0739	H	0.98466	4.24	0.22001	N	0.999425	D	0.56521	0.976	P	0.60068	0.868	T	0.17501	-1.0367	9	0.87932	D	0	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	36	Q96IR2	ZN845_HUMAN	L	36	ENSP00000388311:V36L	ENSP00000352990:V36L	V	+	1	0	ZNF845	58540661	0.998000	0.40836	0.821000	0.32701	0.219000	0.24729	4.546000	0.60705	1.048000	0.40298	0.134000	0.15878	GTG		0.473	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	121	1	0	0.00198382	1	0.00204995	5	121					T	53848849	G	T	53848849	3	4	103	1	0	0	0	0	1	0	0	0	18188	1145	40	5	112	5	ZNF845	19	53848849	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08	4706201	53848849	5280134	20	1886										
SIRPG	55423	broad.mit.edu	37	chr20	1629815	1629815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	tggggtgatgctactgatgcGgatggaaaagtccatgttgt	15	5	0	2			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr20:1629815G>A	ENST00000303415.3	-	2	377	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.R72C|SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	105	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R105S(1)|p.R105C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTACTGATGCGGATGGAAAAG	0.483																																						ENST00000381580.1																			2	Substitution - Missense(2)	p.R105S(1)|p.R105C(1)	large_intestine(1)|lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(214-216)Cgc>Tgc		signal-regulatory protein gamma							311	256	275					20																	1629815		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629815G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.313C>T	20.37:g.1629815G>A	ENSP00000305529:p.Arg105Cys					SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C|SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C|SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C|SIRPG_ENST00000303415.3_Missense_Mutation_p.R105C	p.R72C			Q9P1W8	SIRPG_HUMAN			2	393	-			105			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.214C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	8.087	0.773762	0.16051	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198861	0.36167	N	0.002741	T	0.56746	0.2006	M	0.70903	2.155	0.53005	D	0.999969	P;P;P	0.39480	0.565;0.56;0.675	B;B;B	0.31946	0.083;0.083;0.138	T	0.61098	-0.7131	10	0.54805	T	0.06	.	7.3585	0.26733	0.0:0.0:1.0:0.0	.	105;105;105	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	C	72;105;105;105;105	ENSP00000370992:R72C;ENSP00000342759:R105C;ENSP00000305529:R105C;ENSP00000370995:R105C;ENSP00000216927:R105C	ENSP00000216927:R105C	R	-	1	0	SIRPG	1577815	0.625000	0.27111	0.991000	0.47740	0.346000	0.29079	0.286000	0.18902	1.392000	0.46585	0.195000	0.17529	CGC		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		5	86	0	0	0	1	0	5	86					A	1629815	G	A	1629815	3	1	103	1	0	0	0	0	1	0	0	0	14336	1116	39	2	866	2	SIRPG	20	1629815	Missense_Mutation	SNP	G	TCGA-S7-A7X0-01A-12D-A35I-08		1629815	61395705	21	1887										
LRRC3	81543	broad.mit.edu	37	chr21	45877227	45877227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	gccacaaccaggaggatgccCggaggcacctggagtacctg	14	13	0	0	rs567420098		TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr21:45877227C>T	ENST00000291592.4	+	2	1017	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	234						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGAGGATGCCCGGAGGCACCT	0.672													C|||	1	0.000199681	0	0	5008	,	,		17348	0		0	False		,,,				2504	0.001					ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(700-702)Cgg>Tgg		leucine rich repeat containing 3							58	63	61					21																	45877227		2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45877227C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.700C>T	21.37:g.45877227C>T	ENSP00000291592:p.Arg234Trp						p.R234W	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	1017	+		Breast(209;0.00908)	234					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.700C>T	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093289	0.76756	.	.	ENSG00000160233	ENST00000291592	T	0.63417	-0.04	4.81	-3.24	0.05094	.	0.202547	0.43919	D	0.000516	T	0.75824	0.3902	M	0.71036	2.16	0.53005	D	0.999969	D	0.89917	1.0	D	0.85130	0.997	T	0.77373	-0.2612	10	0.87932	D	0	-37.3553	18.6883	0.91573	0.2819:0.7181:0.0:0.0	.	234	Q9BY71	LRRC3_HUMAN	W	234	ENSP00000291592:R234W	ENSP00000291592:R234W	R	+	1	2	LRRC3	44701655	0.484000	0.25964	0.935000	0.37517	0.964000	0.63967	-0.008000	0.12788	-0.827000	0.04278	0.436000	0.28706	CGG		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			6	39	0	0	0	1	0	6	39					T	45877227	C	T	45877227	3	4	103	1	0	0	0	0	1	0	0	0	8984	643	23	2	702	2	LRRC3	21	45877227	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08		45877227	2252668	22	1888										
SMARCB1	6598	broad.mit.edu	37	chr22	24176363	24176363	+	Frame_Shift_Del	DEL	G	G	-													0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	tgccaacacggccccggcctGgtaaccagcccatcagcaca							TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:24176363delG	ENST00000263121.7	+	9	1350	c.1154delG	c.(1153-1155)tggfs	p.W385fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.W376fs|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.W339fs|SMARCB1_ENST00000344921.6_Frame_Shift_Del_p.W394fs	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	385					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCCCCGGCCTGGTAACCAGCC	0.662			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"D, N, F, S"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"			M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.(1180-1182)tgfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							31	23	26					22																	24176363		2195	4290	6485	SO:0001589	frameshift_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24176363delG	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1154delG	22.37:g.24176363delG	ENSP00000263121:p.Trp385fs					SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.W376fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.W339fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.W385fs	p.W394fs			Q12824	SNF5_HUMAN			9	1388	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	385					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Frame_Shift_Del	DEL	ENST00000263121.7	37	c.1181delG	CCDS13817.1																																																																																				0.662	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		2	4						2	4	---	---	---	---	-	24176363	G	-	24176363	7	5	103	1	0	1	0	1	0	0	0	0	14774	1357	47	0	1188	0	SMARCB1	22	24176363	Frame_Shift_Del	DEL	G	TCGA-S7-A7X0-01A-12D-A35I-08		24176363	27128203	23	1889										
GTSE1	51512	broad.mit.edu	37	chr22	46704404	46704404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.677333333333333	5.08	0	1	1	0	caaagaagctcacttactggCtttacacattgagagcagca	8	10	1	2			TCGA-S7-A7X0-01A-12D-A35I-08	TCGA-S7-A7X0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac0ac255-1b96-4cad-922d-00e6a1eee43a	189f6578-c5db-4547-8d15-0121e268c8b1	g.chr22:46704404C>T	ENST00000454366.1	+	4	538	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	90					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CACTTACTGGCTTTACACATT	0.572																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(325-327)gCt>gTt		G-2 and S-phase expressed 1							59	68	65					22																	46704404		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704404C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.326C>T	22.37:g.46704404C>T	ENSP00000415430:p.Ala109Val						p.A109V	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	538	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	90					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.326C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424680	0.83667	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.18810	2.19	5.74	5.74	0.90152	.	0.047590	0.85682	D	0.000000	T	0.52289	0.1725	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54840	-0.8233	10	0.87932	D	0	-28.835	19.5244	0.95197	0.0:1.0:0.0:0.0	.	90	Q9NYZ3	GTSE1_HUMAN	V	109;69	ENSP00000415430:A109V	ENSP00000354634:A69V	A	+	2	0	GTSE1	45083068	0.999000	0.42202	0.912000	0.35992	0.388000	0.30384	5.154000	0.64894	2.700000	0.92200	0.655000	0.94253	GCT		0.572	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		4	39	0	0	0	1	0	4	39					T	46704404	C	T	46704404	3	4	103	1	0	0	0	0	1	0	0	0	6885	797	28	3	336	3	GTSE1	22	46704404	Missense_Mutation	SNP	C	TCGA-S7-A7X0-01A-12D-A35I-08	22528041	46704404	4600162	24	1890										
ADH6	130	broad.mit.edu	37	chr4	100126142	100126142	+	Missense_Mutation	SNP	G	G	A													0	0	1	0	0	0	1	1	0	tatcaagattcagagtatgaGtaattagtggatctagattc					rs541657822	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100126142G>A	ENST00000237653.7	-	8	1427	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	ADH6_ENST00000394899.2_Missense_Mutation_p.T348I|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139I|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	348					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CAGAGTATGAGTAATTAGTGG	0.358																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(1042-1044)aCt>aTt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						141	135	137					4																	100126142		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100126142G>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.1043C>T	4.37:g.100126142G>A	ENSP00000237653:p.Thr348Ile					RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139I|ADH6_ENST00000237653.7_Missense_Mutation_p.T348I	p.T348I	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	8	1136	-			348					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.1043C>T	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646603	0.67358	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.12039	2.72;2.72;2.72	3.79	3.79	0.43588	.	0.055570	0.64402	D	0.000001	T	0.52008	0.1708	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.986;0.995;0.999	T	0.72609	-0.4241	10	0.87932	D	0	-34.6002	15.9862	0.80155	0.0:0.0:1.0:0.0	.	225;348;348	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	I	348;139;348	ENSP00000378359:T348I;ENSP00000384997:T139I;ENSP00000237653:T348I	ENSP00000237653:T348I	T	-	2	0	ADH6	100345165	1.000000	0.71417	0.025000	0.17156	0.003000	0.03518	3.130000	0.50508	1.788000	0.52465	0.544000	0.68410	ACT		0.358	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		29	69	0	0	0	1	0	29	69					A	100126142	G	A	100126142	3	1	104	1	0	0	0	0	1	0	0	0	312	1029	36	3	96	3	ADH6	4	100126142	Missense_Mutation	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08		100126142	91028134	1	1891	13	2								
ADH6	130	broad.mit.edu	37	chr4	100126143	100126143	+	Missense_Mutation	SNP	T	T	G													0	0	1	0	0	0	1	1	0	atcaagattcagagtatgagTaattagtggatctagattca					rs541657822	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100126143T>G	ENST00000237653.7	-	8	1426	c.1042A>C	c.(1042-1044)Act>Cct	p.T348P	ADH6_ENST00000394899.2_Missense_Mutation_p.T348P|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139P|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	348					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AGAGTATGAGTAATTAGTGGA	0.358																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(1042-1044)Act>Cct		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						142	136	138					4																	100126143		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100126143T>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.1042A>C	4.37:g.100126143T>G	ENSP00000237653:p.Thr348Pro					RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139P|ADH6_ENST00000237653.7_Missense_Mutation_p.T348P	p.T348P	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	8	1135	-			348					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.1042A>C	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.383976	0.61845	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.12039	2.72;2.72;2.72	3.79	3.79	0.43588	.	0.055570	0.64402	D	0.000001	T	0.50171	0.1600	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	0.995;0.999;1.0	D;D;D	0.87578	0.978;0.993;0.998	T	0.67364	-0.5689	10	0.87932	D	0	-34.6002	12.8095	0.57631	0.0:0.0:0.0:1.0	.	225;348;348	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	P	348;139;348	ENSP00000378359:T348P;ENSP00000384997:T139P;ENSP00000237653:T348P	ENSP00000237653:T348P	T	-	1	0	ADH6	100345166	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	7.026000	0.76455	1.458000	0.47871	0.445000	0.29226	ACT		0.358	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		33	67	0	0	0	1	0	33	67					G	100126143	T	G	100126143	3	3	104	1	0	0	0	0	1	0	0	0	312	1638	57	5	97	5	ADH6	4	100126143	Missense_Mutation	SNP	T	TCGA-S7-A7X1-01A-11D-A35I-08	1	100126143	91028133	2	1892	13	2								
ADH1B	125	broad.mit.edu	37	chr4	100234996	100234996	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	accatggtgtcaagccgaccGatgacttcaaacgaaaaatc	8	11	2	1			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100234996G>A	ENST00000305046.8	-	6	877	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_ENST00000394887.3_Silent_p.I230I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	270					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAAGCCGACCGATGACTTCAA	0.438																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(808-810)atC>atT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						210	211	210					4																	100234996		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100234996G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.810C>T	4.37:g.100234996G>A						ADH1B_ENST00000394887.3_Silent_p.I230I	p.I270I			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	877	-			270					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.810C>T	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		5	196	0	0	0	1	0	5	196					A	100234996	G	A	100234996	2	1	104	1	0	0	0	0	0	0	0	1	308	1048	37	2		2	ADH1B	4	100234996	Silent	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08	108853	100234996	90919280	3	1893										
PET112L	5188	broad.mit.edu	37	chr4	152682119	152682119	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccacggcagccccagcgcaGcatgggcgccgccattgtaa	12	16	0	0	rs553313362	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:152682119G>A	ENST00000515812.1	-	1	32	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	PET112_ENST00000512306.1_Silent_p.L6L|PET112_ENST00000508611.1_Silent_p.L6L|PET112_ENST00000263985.6_Silent_p.L6L																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CCCCAGCGCAGCATGGGCGCC	0.602																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(16-18)Ctg>Ttg		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						20	25	23					4																	152682119		2199	4296	6495	SO:0001819	synonymous_variant	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152682119G>A																												ENST00000515812.1:c.16C>T	4.37:g.152682119G>A						PET112_ENST00000508611.1_Silent_p.L6L|PET112_ENST00000512306.1_Silent_p.L6L|PET112_ENST00000515812.1_Silent_p.L6L	p.L6L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			1	56	-			6						Silent	SNP	ENST00000515812.1	37	c.16C>T																																																																																					0.602	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			6	43	0	0	0	1	0	6	43					A	152682119	G	A	152682119	2	1	104	1	0	0	0	0	0	0	0	1	11734	962	34	3		3	PET112L	4	152682119	Silent	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08	52447123	152682119	38472157	4	1894										
PCLO	27445	broad.mit.edu	37	chr7	82580363	82580363	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgtggttaaagtgggaaCagagtctatcgtctcagcag	13	7	2	1			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr7:82580363C>G	ENST00000333891.9	-	6	9878	c.9541G>C	c.(9541-9543)Gtt>Ctt	p.V3181L	PCLO_ENST00000423517.2_Missense_Mutation_p.V3181L|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGTGGGAACAGAGTCTATC	0.433																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9541-9543)Gtt>Ctt		piccolo presynaptic cytomatrix protein							52	49	50					7																	82580363		1925	4155	6080	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580363C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9541G>C	7.37:g.82580363C>G	ENSP00000334319:p.Val3181Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.V3181L	p.V3181L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	9878	-			3112			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9541G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727851	0.15507	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.37	5.57	3.47	0.39725	.	.	.	.	.	T	0.10594	0.0259	N	0.21373	0.66	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.003;0.003;0.004	T	0.10245	-1.0638	9	0.87932	D	0	.	5.0744	0.14622	0.0:0.6085:0.226:0.1655	.	3112;3181;3181	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3112;3181;3181	ENSP00000334319:V3181L;ENSP00000388393:V3181L	ENSP00000334319:V3181L	V	-	1	0	PCLO	82418299	0.928000	0.31464	0.996000	0.52242	0.896000	0.52359	2.243000	0.43115	1.321000	0.45227	0.467000	0.42956	GTT		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	23	0	0	0	1	0	7	23					G	82580363	C	G	82580363	3	3	104	1	0	0	0	0	1	0	0	0	11583	478	17	5	5984	5	PCLO	7	82580363	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		82580363	76558300	5	1895										
WEE2	494551	broad.mit.edu	37	chr7	141414151	141414151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	taatcccttcactccagagtCctataaaaaattatttcttc	2	11	2	1			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr7:141414151C>T	ENST00000397541.2	+	2	891	c.485C>T	c.(484-486)tCc>tTc	p.S162F	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	162					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACTCCAGAGTCCTATAAAAAA	0.423																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(484-486)tCc>tTc		WEE1 homolog 2 (S. pombe)							67	64	65					7																	141414151		1831	4093	5924	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141414151C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.485C>T	7.37:g.141414151C>T	ENSP00000380675:p.Ser162Phe					WEE2-AS1_ENST00000488785.1_RNA	p.S162F	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			2	891	+	Melanoma(164;0.0171)		162						Missense_Mutation	SNP	ENST00000397541.2	37	c.485C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349046	0.82132	.	.	ENSG00000214102	ENST00000397541	T	0.42900	0.96	4.92	4.92	0.64577	.	0.176579	0.37669	U	0.001988	T	0.63177	0.2489	M	0.74881	2.28	0.47009	D	0.999283	D	0.65815	0.995	P	0.60886	0.88	T	0.68224	-0.5465	10	0.87932	D	0	.	18.3024	0.90168	0.0:1.0:0.0:0.0	.	162	P0C1S8	WEE2_HUMAN	F	162	ENSP00000380675:S162F	ENSP00000380675:S162F	S	+	2	0	WEE2	141060620	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.703000	0.61824	2.550000	0.86006	0.585000	0.79938	TCC		0.423	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		4	174	0	0	0	1	0	4	174					T	141414151	C	T	141414151	3	4	104	1	0	0	0	0	1	0	0	0	17342	855	30	3	491	3	WEE2	7	141414151	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08	58833788	141414151	17724512	6	1896										
CNGB3	54714	broad.mit.edu	37	chr8	87679266	87679266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagtagtgtatgttgtctgCggtttgatatgggaagacga	14	5	1	2	rs150490913		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr8:87679266C>T	ENST00000320005.5	-	6	786	c.739G>A	c.(739-741)Gca>Aca	p.A247T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	247					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGTTGTCTGCGGTTTGATAT	0.443																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(739-741)Gca>Aca		cyclic nucleotide gated channel beta 3		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	110	114		739	3.7	0.9	8	dbSNP_134	114	0,8600		0,0,4300	no	missense	CNGB3	NM_019098.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	247/810	87679266	1,13005	2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87679266C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.739G>A	8.37:g.87679266C>T	ENSP00000316605:p.Ala247Thr						p.A247T	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			6	786	-			247					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.739G>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610396	0.28712	2.27E-4	0.0	ENSG00000170289	ENST00000320005	T	0.12569	2.67	5.54	3.71	0.42584	.	0.120536	0.56097	D	0.000028	T	0.09598	0.0236	N	0.12182	0.205	0.27119	N	0.96219	B;B	0.14438	0.01;0.006	B;B	0.14023	0.01;0.004	T	0.15780	-1.0425	10	0.49607	T	0.09	.	16.1249	0.81386	0.0:0.3815:0.6185:0.0	.	247;247	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	247	ENSP00000316605:A247T	ENSP00000316605:A247T	A	-	1	0	CNGB3	87748382	0.555000	0.26530	0.915000	0.36163	0.051000	0.14879	0.781000	0.26774	0.679000	0.31345	-0.139000	0.14373	GCA		0.443	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		3	28	0	0	0	1	0	3	28					T	87679266	C	T	87679266	3	4	104	1	0	0	0	0	1	0	0	0	3601	768	27	1	1742	1	CNGB3	8	87679266	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		87679266	58684756	7	1897										
KIAA1217	56243	broad.mit.edu	37	chr10	24762772	24762772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggatgatagacatgcacGctcactataatgcccacggc	10	11	1	3	rs147538283		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr10:24762772G>A	ENST00000376454.3	+	6	1492	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T	KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A206T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A206T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	488					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGACATGCACGCTCACTATAA	0.557																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(616-618)Gct>Act		KIAA1217		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	103	89	94		1222,1462,1462	3.8	0	10	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	408/1265,488/1310,488/1944	24762772	2,13004	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762772G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1462G>A	10.37:g.24762772G>A	ENSP00000365637:p.Ala488Thr					KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A206T	p.A206T			Q5T5P2	SKT_HUMAN			2	876	+			488					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.616G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	4.364	0.067145	0.08388	2.27E-4	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.65	3.77	0.43336	.	0.691975	0.15043	N	0.283730	T	0.41650	0.1168	L	0.40543	1.245	0.09310	N	1	B;B;B;B;P;B;D;B	0.54047	0.17;0.022;0.17;0.046;0.514;0.17;0.964;0.068	B;B;B;B;B;B;P;B	0.45681	0.03;0.013;0.03;0.03;0.045;0.045;0.49;0.007	T	0.14117	-1.0484	10	0.22109	T	0.4	.	11.5658	0.50805	0.0857:0.5139:0.4004:0.0	.	488;488;206;206;206;206;488;488	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	408;488;488;206;488;488;338;409;206;206;206;206;206	ENSP00000365645:A408T;ENSP00000365639:A488T;ENSP00000392625:A488T;ENSP00000365637:A488T;ENSP00000365635:A488T;ENSP00000404798:A338T;ENSP00000389680:A409T;ENSP00000302343:A206T;ENSP00000379722:A206T;ENSP00000365634:A206T;ENSP00000379723:A206T	ENSP00000302343:A206T	A	+	1	0	KIAA1217	24802778	0.706000	0.27856	0.008000	0.14137	0.026000	0.11368	1.046000	0.30354	0.658000	0.30925	0.655000	0.94253	GCT		0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		29	57	0	0	0	1	0	29	57					A	24762772	G	A	24762772	3	1	104	1	0	0	0	0	1	0	0	0	8216	1087	38	1	1484	1	KIAA1217	10	24762772	Missense_Mutation	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08		24762772	110771975	8	1898										
TRIM3	10612	broad.mit.edu	37	chr11	6478231	6478231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgatgtgttcctgaccctggCgcagtgtgtccagctggctt	13	12	0	1	rs145197784		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr11:6478231C>T	ENST00000525074.1	-	6	1119	c.725G>A	c.(724-726)cGc>cAc	p.R242H	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	242					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACCCTGGCGCAGTGTGTC	0.607																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(724-726)cGc>cAc		tripartite motif containing 3		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	56	60	58		725,725	4.2	1	11	dbSNP_134	58	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	TRIM3	NM_006458.2,NM_033278.2	29,29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	242/745,242/745	6478231	1,12993	2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478231C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.725G>A	11.37:g.6478231C>T	ENSP00000433102:p.Arg242His					TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H|TRIM3_ENST00000529058.1_5'UTR	p.R242H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1119	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	242					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.725G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754983	0.31046	0.0	1.16E-4	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;D;T	0.83419	-0.64;-0.64;-0.64;-1.72;0.97	5.08	4.16	0.48862	B-box, C-terminal (1);	0.314680	0.35151	N	0.003413	T	0.68513	0.3009	N	0.14661	0.345	0.33841	D	0.631427	B;B;B	0.26318	0.008;0.146;0.017	B;B;B	0.15052	0.005;0.007;0.012	T	0.72414	-0.4301	10	0.49607	T	0.09	-18.4653	11.6717	0.51406	0.3216:0.6784:0.0:0.0	.	123;123;242	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	H	242;242;242;242;231;242;123;242	ENSP00000433102:R242H;ENSP00000340797:R242H;ENSP00000352508:R242H;ENSP00000445460:R123H;ENSP00000433070:R242H	ENSP00000337094:R231H	R	-	2	0	TRIM3	6434807	0.548000	0.26473	0.999000	0.59377	0.985000	0.73830	1.225000	0.32551	1.106000	0.41623	0.563000	0.77884	CGC		0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	44	0	0	0	1	0	4	44					T	6478231	C	T	6478231	3	4	104	1	0	0	0	0	1	0	0	0	16501	768	27	1	1537	1	TRIM3	11	6478231	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		6478231	128528285	9	1899										
PKNOX2	63876	broad.mit.edu	37	chr11	125301206	125301206	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatggaagaggaggaggaggAggagctggaggaggaggtcg	24	2	0	1			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr11:125301206A>T	ENST00000298282.9	+	13	1608	c.1337A>T	c.(1336-1338)gAg>gTg	p.E446V	PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	446	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		gaggaggaggaggagctggag	0.582																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1336-1338)gAg>gTg		PBX/knotted 1 homeobox 2							50	56	54					11																	125301206		2182	4264	6446	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301206A>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1337A>T	11.37:g.125301206A>T	ENSP00000298282:p.Glu446Val					PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR	p.E446V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1608	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	446			Asp/Glu-rich (acidic).		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1337A>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009470	0.35415	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.01	4.56	4.56	0.56223	.	0.066868	0.64402	D	0.000014	T	0.71108	0.3301	N	0.08118	0	0.48511	D	0.999665	B;B;B	0.33694	0.13;0.421;0.079	B;B;B	0.30029	0.037;0.11;0.017	T	0.75496	-0.3297	10	0.62326	D	0.03	-16.2343	14.0378	0.64656	1.0:0.0:0.0:0.0	.	382;417;446	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	V	417;417;446;382	ENSP00000434732:E417V;ENSP00000433971:E417V;ENSP00000298282:E446V;ENSP00000441470:E382V	ENSP00000298282:E446V	E	+	2	0	PKNOX2	124806416	0.998000	0.40836	1.000000	0.80357	0.672000	0.39443	3.279000	0.51670	2.037000	0.60232	0.533000	0.62120	GAG		0.582	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			3	20	0	0	0	1	0	3	20					T	125301206	A	T	125301206	3	4	104	1	0	0	0	0	1	0	0	0	11983	304	11	5	1375	5	PKNOX2	11	125301206	Missense_Mutation	SNP	A	TCGA-S7-A7X1-01A-11D-A35I-08	118822975	125301206	9705310	10	1900										
MUC16	94025	broad.mit.edu	37	chr19	9069495	9069495	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgagaagctacttgcacttGgtaaggagctggtcacaagt	12	8	1	1			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr19:9069495G>T	ENST00000397910.4	-	3	18154	c.17951C>A	c.(17950-17952)cCa>cAa	p.P5984Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5986	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGCACTTGGTAAGGAGCT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17950-17952)cCa>cAa		mucin 16, cell surface associated							150	145	146					19																	9069495		1954	4144	6098	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069495G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17951C>A	19.37:g.9069495G>T	ENSP00000381008:p.Pro5984Gln						p.P5984Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18154	-			5986			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17951C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.162	-0.392048	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	0.9	-0.489	0.12052	.	.	.	.	.	T	0.11452	0.0279	N	0.19112	0.55	.	.	.	P	0.46020	0.871	B	0.34824	0.19	T	0.18777	-1.0326	8	0.87932	D	0	.	3.58	0.07949	0.305:0.0:0.695:0.0	.	5984	B5ME49	.	Q	5984	ENSP00000381008:P5984Q	ENSP00000381008:P5984Q	P	-	2	0	MUC16	8930495	0.001000	0.12720	0.000000	0.03702	0.167000	0.22549	-0.068000	0.11561	-0.071000	0.12886	0.281000	0.19383	CCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	75	1	0	4.44401e-20	1	4.6909e-20	45	75					T	9069495	G	T	9069495	3	4	104	1	0	0	0	0	1	0	0	0	9973	1348	47	5	25900	5	MUC16	19	9069495	Missense_Mutation	SNP	G	TCGA-S7-A7X1-01A-11D-A35I-08		9069495	50059488	11	1901										
AVP	551	broad.mit.edu	37	chr20	3065235	3065235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcggacatggccctcttgCcgcccctcgggcagttctgg	14	15	2	0			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr20:3065235C>T	ENST00000380293.3	-	1	135	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	29					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGCCCTCTTGCCGCCCCTCGG	0.652																																						ENST00000380293.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(85-87)gGc>gAc		arginine vasopressin							117	109	111					20																	3065235		2203	4300	6503	SO:0001583	missense	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065235C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.86G>A	20.37:g.3065235C>T	ENSP00000369647:p.Gly29Asp						p.G29D	NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	135	-			29					A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	c.86G>A	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	C	36	5.601157	0.96614	.	.	ENSG00000101200	ENST00000380293	D	0.99167	-5.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98766	1.0726	10	0.87932	D	0	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	29	P01185	NEU2_HUMAN	D	29	ENSP00000369647:G29D	ENSP00000369647:G29D	G	-	2	0	AVP	3013235	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.571000	0.82399	2.561000	0.86390	0.655000	0.94253	GGC		0.652	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		4	180	0	0	0	1	0	4	180					T	3065235	C	T	3065235	3	4	104	1	0	0	0	0	1	0	0	0	1229	739	26	3	420	3	AVP	20	3065235	Missense_Mutation	SNP	C	TCGA-S7-A7X1-01A-11D-A35I-08		3065235	59960285	12	1902										
KIAA2013	90231	broad.mit.edu	37	chr1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccttggctgctttgcttttgAgcacctgggggttaatgggg	15	8	0	1			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTTTTGAGCACCTGGGG	0.597																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(898-900)cTc>cCc		KIAA2013							63	62	62					1																	11985396		2203	4300	6503	SO:0001583	missense	90231					integral to membrane		g.chr1:11985396A>G	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.899T>C	1.37:g.11985396A>G	ENSP00000365756:p.Leu300Pro					KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	1084	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	300					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.899T>C	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542851	0.27563	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	3.9	3.9	0.45041	.	0.451826	0.20244	N	0.096238	T	0.53706	0.1813	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.69078	0.997;0.97	P;P	0.62382	0.901;0.859	T	0.50110	-0.8866	9	0.27082	T	0.32	-7.7378	5.53	0.16978	0.8693:0.0:0.1307:0.0	.	300;300	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	P	300	.	ENSP00000365756:L300P	L	-	2	0	KIAA2013	11907983	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.737000	0.55060	1.767000	0.52121	0.421000	0.28195	CTC		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		3	32	0	0	0	1	0	3	32					G	11985396	A	G	11985396	3	3	105	1	0	0	0	0	1	0	0	0	8267	304	11	4	1017	4	KIAA2013	1	11985396	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08		11985396	237265225	1	1903										
FMOD	2331	broad.mit.edu	37	chr1	203316735	203316735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcaagatcagtgaccggaGgcccctcatggaactgccca	11	14	2	2			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr1:203316735G>A	ENST00000354955.4	-	2	1127	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	222					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGTGACCGGAGGCCCCTCATG	0.567																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(664-666)Ctc>Ttc		fibromodulin							94	92	93					1																	203316735		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316735G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.664C>T	1.37:g.203316735G>A	ENSP00000347041:p.Leu222Phe					FMOD_ENST00000464898.1_5'UTR	p.L222F	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1127	-			222					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.664C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453974	0.63290	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.71698	-0.59	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	M	0.80508	2.5	0.58432	D	0.999996	D	0.67145	0.996	P	0.61477	0.889	D	0.83844	0.0259	10	0.87932	D	0	-14.4651	10.8507	0.46769	0.0867:0.0:0.9133:0.0	.	222	Q06828	FMOD_HUMAN	F	209;222	ENSP00000347041:L222F	ENSP00000347041:L222F	L	-	1	0	FMOD	201583358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.863000	0.48396	2.414000	0.81942	0.655000	0.94253	CTC		0.567	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		20	72	0	0	0	1	0	20	72					A	203316735	G	A	203316735	3	1	105	1	0	0	0	0	1	0	0	0	5959	1000	35	3	474	3	FMOD	1	203316735	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08	191331339	203316735	45933886	2	1904										
POLN	353497	broad.mit.edu	37	chr4	2129863	2129863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgaagtcagagtagaaaaTacatcatctctttcagattc	7	7	4	4			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr4:2129863T>C	ENST00000511885.2	-	19	2312	c.1959A>G	c.(1957-1959)gtA>gtG	p.V653V	POLN_ENST00000382865.1_Silent_p.V653V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	653					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGTAGAAAATACATCATCTC	0.368								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1957-1959)gtA>gtG	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							74	73	73					4																	2129863		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2129863T>C	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"DNA polymerases"	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1959A>G	4.37:g.2129863T>C						POLN_ENST00000382865.1_Silent_p.V653V	p.V653V			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		19	2312	-			653					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.1959A>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275758	0.23307	.	.	ENSG00000130997	ENST00000511098	.	.	.	5.19	-9.85	0.00476	.	.	.	.	.	T	0.48021	0.1477	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.58907	-0.7553	4	.	.	.	-18.8352	10.1676	0.42890	0.0:0.5005:0.3452:0.1543	.	.	.	.	C	286	.	.	Y	-	2	0	POLN	2099661	0.002000	0.14202	0.883000	0.34634	0.993000	0.82548	-3.097000	0.00606	-1.324000	0.02272	-0.408000	0.06270	TAT		0.368	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		6	26	0	0	0	1	0	6	26					C	2129863	T	C	2129863	2	2	105	1	0	0	0	0	0	0	0	1	12207	1393	49	4		4	POLN	4	2129863	Silent	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		2129863	189024413	3	1905										
TECRL	253017	broad.mit.edu	37	chr4	65188460	65188460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcatacagtgtgacaatggAggaagctgcaatactttgaa	11	6	0	2			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr4:65188460A>G	ENST00000381210.3	-	4	492	c.382T>C	c.(382-384)Tcc>Ccc	p.S128P	TECRL_ENST00000513125.1_5'Flank|TECRL_ENST00000507440.1_Missense_Mutation_p.S128P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	128					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGACAATGGAGGAAGCTGCA	0.323																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(382-384)Tcc>Ccc		trans-2,3-enoyl-CoA reductase-like							78	78	78					4																	65188460		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65188460A>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.382T>C	4.37:g.65188460A>G	ENSP00000370607:p.Ser128Pro					TECRL_ENST00000507440.1_Missense_Mutation_p.S128P	p.S128P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			4	492	-			128						Missense_Mutation	SNP	ENST00000381210.3	37	c.382T>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.716850	0.48622	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.47869	0.83;0.83;0.83	5.78	5.78	0.91487	.	0.123068	0.56097	D	0.000025	T	0.67277	0.2876	M	0.74881	2.28	0.47659	D	0.999486	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.979	T	0.69316	-0.5177	10	0.51188	T	0.08	-1.2428	12.4839	0.55861	1.0:0.0:0.0:0.0	.	128;128	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	P	128	ENSP00000426043:S128P;ENSP00000370607:S128P;ENSP00000422497:S128P	ENSP00000370607:S128P	S	-	1	0	TECRL	64871055	1.000000	0.71417	0.958000	0.39756	0.093000	0.18481	5.636000	0.67848	2.202000	0.70862	0.477000	0.44152	TCC		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		4	73	0	0	0	1	0	4	73					G	65188460	A	G	65188460	3	3	105	1	0	0	0	0	1	0	0	0	15743	304	11	4	745	4	TECRL	4	65188460	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08	63058597	65188460	125965816	4	1906										
TRIM38	10475	broad.mit.edu	37	chr6	25966899	25966899	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctttaaaaacccaagccaaaAgcaactgaggcaggagacat	8	10	0	2			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr6:25966899A>C	ENST00000357085.3	+	3	625	c.149A>C	c.(148-150)aAg>aCg	p.K50T	TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	50					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCAAGCCAAAAGCAACTGAGG	0.507																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(148-150)aAg>aCg		tripartite motif containing 38							87	84	85					6																	25966899		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25966899A>C	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.149A>C	6.37:g.25966899A>C	ENSP00000349596:p.Lys50Thr					TRIM38_ENST00000349458.3_Missense_Mutation_p.K50T	p.K50T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			3	625	+			50					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.149A>C	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	0.093	-1.163495	0.01673	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.08008	3.14;3.14;3.14	3.09	-6.19	0.02078	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	7.995230	0.00166	N	0.000000	T	0.01189	0.0039	L	0.29908	0.895	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.25614	0.062;0.062	T	0.40831	-0.9542	10	0.13853	T	0.58	.	2.3194	0.04207	0.261:0.432:0.1128:0.1942	.	50;50	B2R862;O00635	.;TRI38_HUMAN	T	50	ENSP00000443976:K50T;ENSP00000230099:K50T;ENSP00000349596:K50T	ENSP00000230099:K50T	K	+	2	0	TRIM38	26074878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.956000	0.00326	-2.627000	0.00436	0.477000	0.44152	AAG		0.507	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			3	44	0	0	0	1	0	3	44					C	25966899	A	C	25966899	3	2	105	1	0	0	0	0	1	0	0	0	16509	72	3	5	151	5	TRIM38	6	25966899	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08		25966899	145148168	5	1907										
PTPN12	5782	broad.mit.edu	37	chr7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taagttcagatctaaatgtcGgtgatacttcccagaattct	7	8	3	3			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1462-1464)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 12							70	69	69					7																	77256458		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256458G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1462G>A	7.37:g.77256458G>A	ENSP00000248594:p.Gly488Ser					PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	p.G488S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1734	+			488					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1462G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	g	0.064	-1.216375	0.01542	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.05925	3.96;3.37;3.37	5.92	0.738	0.18319	.	0.610150	0.17747	N	0.163343	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48536	-0.9027	10	0.10377	T	0.69	.	8.9549	0.35812	0.1963:0.192:0.6117:0.0	.	488	Q05209	PTN12_HUMAN	S	488;369;369;358	ENSP00000248594:G488S;ENSP00000392429:G369S;ENSP00000397991:G358S	ENSP00000248594:G488S	G	+	1	0	PTPN12	77094394	0.014000	0.17966	0.000000	0.03702	0.227000	0.25037	1.413000	0.34725	-0.342000	0.08363	-1.972000	0.00464	GGT		0.383	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			4	63	0	0	0	1	0	4	63					A	77256458	G	A	77256458	3	1	105	1	0	0	0	0	1	0	0	0	12781	1116	39	2	1512	2	PTPN12	7	77256458	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		77256458	81882205	6	1908										
ATG9B	285973	broad.mit.edu	37	chr7	150713794	150713794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctggggtcctgggcaattCgggaaatggaggcaaggagg	18	7	0	0			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr7:150713794C>A	ENST00000377974.2	-	11	2477	c.2402G>T	c.(2401-2403)cGa>cTa	p.R801L	ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662																																						ENST00000377974.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(2401-2403)cGa>cTa		autophagy related 9B							35	39	38					7																	150713794		692	1591	2283	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150713794C>A	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2402G>T	7.37:g.150713794C>A	ENSP00000475005:p.Arg801Leu					ATG9B_ENST00000444312.1_Missense_Mutation_p.R287L|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR	p.R801L			Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	2477	-	all_neural(206;0.219)		802					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.2402G>T		.	.	.	.	.	.	.	.	.	.	C	13.92	2.381004	0.42207	.	.	ENSG00000248602	ENST00000377974;ENST00000444312	.	.	.	5.54	3.47	0.39725	.	0.544272	0.19726	N	0.107478	T	0.26919	0.0659	.	.	.	.	.	.	P	0.43024	0.798	B	0.37692	0.256	T	0.24799	-1.0150	7	0.33940	T	0.23	-17.2276	7.254	0.26166	0.1735:0.7294:0.0:0.0971	.	802	Q674R7	ATG9B_HUMAN	L	801;287	.	ENSP00000444232:R801L	R	-	2	0	AC010973.1	150344727	.	.	0.957000	0.39632	0.907000	0.53573	.	.	2.595000	0.87683	0.561000	0.74099	CGA		0.662	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		3	13	1	0	0.004672	1	0.00485169	3	13					A	150713794	C	A	150713794	3	1	105	1	0	0	0	0	1	0	0	0	1103	893	31	5	385	5	ATG9B	7	150713794	Missense_Mutation	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08	73457336	150713794	8424869	7	1909										
PLAT	5327	broad.mit.edu	37	chr8	42045067	42045067	+	Missense_Mutation	SNP	C	C	G													0	0	1	0	0	0	1	1	0	cctgtagctgatgccctggtCctcgtagcacgtggccctgg							TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr8:42045067C>G	ENST00000220809.4	-	6	644	c.388G>C	c.(388-390)Gac>Cac	p.D130H	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000352041.3_Missense_Mutation_p.D84H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	130	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	ATGCCCTGGTCCTCGTAGCAC	0.637																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(388-390)Gac>Cac		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						43	36	39					8																	42045067		2203	4299	6502	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045067C>G		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.388G>C	8.37:g.42045067C>G	ENSP00000220809:p.Asp130His					PLAT_ENST00000352041.3_Missense_Mutation_p.D84H|PLAT_ENST00000429089.2_Missense_Mutation_p.D130H|PLAT_ENST00000270189.6_Missense_Mutation_p.D130H|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron	p.D130H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	644	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	130			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.388G>C	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355743	0.61293	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523;ENST00000521694	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.413335	0.30800	N	0.008854	T	0.78874	0.4352	M	0.79805	2.47	0.27870	N	0.940078	P;P;P	0.48230	0.898;0.627;0.907	P;B;P	0.62014	0.533;0.094;0.897	T	0.74551	-0.3628	10	0.59425	D	0.04	.	15.517	0.75833	0.0:0.9324:0.0:0.0676	.	130;84;130	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	H	130;130;130;84;130;130	ENSP00000270189:D130H;ENSP00000392045:D130H;ENSP00000220809:D130H;ENSP00000270188:D84H;ENSP00000428797:D130H;ENSP00000429801:D130H	ENSP00000220809:D130H	D	-	1	0	PLAT	42164224	0.407000	0.25352	0.853000	0.33588	0.272000	0.26649	4.273000	0.58914	2.824000	0.97209	0.655000	0.94253	GAC		0.637	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		8	19	0	0	0	1	0	8	19					G	42045067	C	G	42045067	3	3	105	1	0	0	0	0	1	0	0	0	12021	855	30	5	1336	5	PLAT	8	42045067	Missense_Mutation	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08		42045067	104318955	8	1910	14	2								
PLAT	5327	broad.mit.edu	37	chr8	42045068	42045068	+	Silent	SNP	C	C	T													0	0	1	0	0	0	1	1	0	ctgtagctgatgccctggtcCtcgtagcacgtggccctggt							TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr8:42045068C>T	ENST00000220809.4	-	6	643	c.387G>A	c.(385-387)gaG>gaA	p.E129E	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.E129E|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000270189.6_Silent_p.E129E|PLAT_ENST00000352041.3_Silent_p.E83E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	129	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TGCCCTGGTCCTCGTAGCACG	0.637																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(385-387)gaG>gaA		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						43	36	38					8																	42045068		2203	4299	6502	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045068C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.387G>A	8.37:g.42045068C>T						PLAT_ENST00000352041.3_Silent_p.E83E|PLAT_ENST00000429089.2_Silent_p.E129E|PLAT_ENST00000270189.6_Silent_p.E129E|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron	p.E129E	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	643	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	129			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.387G>A	CCDS6126.1																																																																																				0.637	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		8	19	0	0	0	1	0	8	19					T	42045068	C	T	42045068	2	4	105	1	0	0	0	0	0	0	0	1	12021	680	24	3		3	PLAT	8	42045068	Silent	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08	1	42045068	104318954	9	1911	14	2								
SORCS3	22986	broad.mit.edu	37	chr10	106976779	106976779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttcagccccatcgaggacgGcatcaagcacgtgtataaga	10	12	2	1			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr10:106976779G>A	ENST00000369701.3	+	19	2860	c.2633G>A	c.(2632-2634)gGc>gAc	p.G878D	SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	878	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCGAGGACGGCATCAAGCAC	0.517																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2632-2634)gGc>gAc		sortilin-related VPS10 domain containing receptor 3							181	137	152					10																	106976779		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976779G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2633G>A	10.37:g.106976779G>A	ENSP00000358715:p.Gly878Asp					SORCS3_ENST00000369699.4_Missense_Mutation_p.G164D	p.G878D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2860	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	878			PKD.		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2633G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025951	0.93518	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.61859	0.07;0.07	5.87	5.87	0.94306	PKD domain (4);	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73789	-0.3872	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	878	Q9UPU3	SORC3_HUMAN	D	878;164	ENSP00000358715:G878D;ENSP00000358713:G164D	.	G	+	2	0	SORCS3	106966769	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GGC		0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	50	0	0	0	1	0	3	50					A	106976779	G	A	106976779	3	1	105	1	0	0	0	0	1	0	0	0	14932	1203	42	3	2707	3	SORCS3	10	106976779	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		106976779	28557968	10	1912										
SLC17A6	57084	broad.mit.edu	37	chr11	22396360	22396360	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attattgtgcctattgggggAcaaattgcagattttctaag	10	5	1	1			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr11:22396360A>G	ENST00000263160.3	+	9	1538	c.1101A>G	c.(1099-1101)ggA>ggG	p.G367G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	367					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTATTGGGGGACAAATTGCAG	0.388																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(1099-1101)ggA>ggG		solute carrier family 17 (vesicular glutamate transporter), member 6							226	222	224					11																	22396360		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396360A>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1101A>G	11.37:g.22396360A>G							p.G367G	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			9	1538	+			367					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.1101A>G	CCDS7856.1																																																																																				0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		45	113	0	0	0	1	0	45	113					G	22396360	A	G	22396360	2	3	105	1	0	0	0	0	0	0	0	1	14421	262	10	4		4	SLC17A6	11	22396360	Silent	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08		22396360	112610156	11	1913										
LPCAT3	10162	broad.mit.edu	37	chr12	7086308	7086308	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taacttaccagggaaatggaTtattccatcttctttaactt	5	8	2	0			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr12:7086308T>G	ENST00000261407.4	-	12	1549	c.1464A>C	c.(1462-1464)taA>taC	p.*488Y	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	0					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGGAAATGGATTATTCCATCT	0.368																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1462-1464)taA>taC		lysophosphatidylcholine acyltransferase 3							63	68	66					12																	7086308		2203	4300	6503	SO:0001578	stop_lost	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086308T>G	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1464A>C	12.37:g.7086308T>G						U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.*488Y	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			12	1549	-			0					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Nonstop_Mutation	SNP	ENST00000261407.4	37	c.1464A>C	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	T	2.998	-0.206735	0.06180	.	.	ENSG00000111684	ENST00000261407	.	.	.	4.77	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1826	0.31319	0.0:0.0903:0.0:0.9097	.	.	.	.	Y	488	.	.	X	-	3	2	LPCAT3	6956569	0.940000	0.31905	0.403000	0.26384	0.226000	0.24999	1.552000	0.36244	0.863000	0.35553	0.459000	0.35465	TAA		0.368	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		19	45	0	0	0	1	0	19	45					G	7086308	T	G	7086308	4	3	105	1	0	0	0	0	0	0	0	0	8912	1500	52	5	3	5	LPCAT3	12	7086308	Nonstop_Mutation	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		7086308	126765587	12	1914										
LRP1	4035	broad.mit.edu	37	chr12	57589943	57589943	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgaggcactgctctgcaaCggccaggatgactgtggcga	15	11	1	2	rs139174222		TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr12:57589943C>T	ENST00000243077.3	+	55	9241	c.8775C>T	c.(8773-8775)aaC>aaT	p.N2925N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2925	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCTCTGCAACGGCCAGGATG	0.637													C|||	1	0.000199681	8e-04	0	5008	,	,		19395	0		0	False		,,,				2504	0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8773-8775)aaC>aaT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C		0,4406		0,0,2203	64	58	60		8775	-7.9	0.2	12	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP1	NM_002332.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		2925/4545	57589943	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57589943C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8775C>T	12.37:g.57589943C>T							p.N2925N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	55	9241	+			2925			LDL-receptor class A 20.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8775C>T	CCDS8932.1																																																																																				0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	40	0	0	0	1	0	16	40					T	57589943	C	T	57589943	2	4	105	1	0	0	0	0	0	0	0	1	8951	535	19	1		1	LRP1	12	57589943	Silent	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08	50503635	57589943	76261952	13	1915										
NIN	51199	broad.mit.edu	37	chr14	51190309	51190309	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttttctgtcgctgttcagTcacttccagagctttcaaca	7	11	4	1			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr14:51190309T>C	ENST00000382041.3	-	0	6496				RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000245441.5_Missense_Mutation_p.T2092A|NIN_ENST00000530997.2_Missense_Mutation_p.T2092A	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGCTGTTCAGTCACTTCCAGA	0.443			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(6274-6276)Act>Gct		ninein (GSK3B interacting protein)							151	145	147					14																	51190309		1897	4114	6011	SO:0001628	intergenic_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51190309T>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569		14.37:g.51190309T>C						NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Missense_Mutation_p.T2092A	p.T2092A	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			31	6464	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1939					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.6274A>G	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.837077|4.837077	0.91117|0.91117	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997|ENST00000245441;ENST00000311149	.|T	.|0.41065	.|1.01	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.239380	.|0.40222	.|N	.|0.001147	T|T	0.57799|0.57799	0.2078|0.2078	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.63113	.|0.911	T|T	0.53704|0.53704	-0.8401|-0.8401	5|10	.|0.13108	.|T	.|0.6	-9.965|-9.965	15.5442|15.5442	0.76081|0.76081	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2092	.|Q8N4C6-7	.|.	G|A	1582|2092;2075	.|ENSP00000245441:T2092A	.|ENSP00000245441:T2092A	D|T	-|-	2|1	0|0	NIN|NIN	50260059|50260059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.517000|7.517000	0.81783|0.81783	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.443	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		4	78	0	0	0	1	0	4	78					C	51190309	T	C	51190309	1	2	105	0	1	0	0	0	0	0	0	0	10417	1667	58	4		4	NIN	14	51190309	IGR	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		51190309	56159231	14	1916										
IL4R	3566	broad.mit.edu	37	chr16	27374978	27374978	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagacccctctccaggtgggGttccactggaggccagtctg	13	14	2	1			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr16:27374978G>T	ENST00000395762.2	+	11	2564	c.2305G>T	c.(2305-2307)Gtt>Ttt	p.V769F	IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	769					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCAGGTGGGGTTCCACTGGA	0.637																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(2305-2307)Gtt>Ttt		interleukin 4 receptor							33	37	36					16																	27374978		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374978G>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"Interleukins and interleukin receptors", "CD molecules"	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2305G>T	16.37:g.27374978G>T	ENSP00000379111:p.Val769Phe					IL4R_ENST00000170630.2_Missense_Mutation_p.V769F|IL4R_ENST00000380922.3_Missense_Mutation_p.V754F|IL4R_ENST00000543915.2_Missense_Mutation_p.V769F	p.V769F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	2564	+			769					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.2305G>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016350	0.54468	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.63	-7.34	0.01427	.	20.742600	0.00166	N	0.000001	T	0.10551	0.0258	L	0.51422	1.61	0.09310	N	1	P;P;P	0.41910	0.764;0.764;0.764	B;B;B	0.31245	0.126;0.126;0.126	T	0.42032	-0.9475	10	0.72032	D	0.01	-1.3257	7.6406	0.28292	0.4881:0.3725:0.1394:0.0	.	754;769;769	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	F	769;769;754;769	ENSP00000379111:V769F;ENSP00000441667:V769F;ENSP00000370309:V754F;ENSP00000170630:V769F	ENSP00000170630:V769F	V	+	1	0	IL4R	27282479	0.000000	0.05858	0.000000	0.03702	0.670000	0.39368	-0.514000	0.06298	-1.238000	0.02535	-0.229000	0.12294	GTT		0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			13	28	1	0	0.00010058	1	0.000118072	13	28					T	27374978	G	T	27374978	3	4	105	1	0	0	0	0	1	0	0	0	7698	1261	44	5	2357	5	IL4R	16	27374978	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		27374978	62979775	15	1917										
ALOX15	246	broad.mit.edu	37	chr17	4535050	4535050	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagggcccgaaaaatactCctcctcatgctggcccacag	8	16	2	0			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:4535050C>A	ENST00000570836.1	-	15	1930	c.1834G>T	c.(1834-1836)Gag>Tag	p.E612*	ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634*|ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612*			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	612	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GAAAAATACTCCTCCTCATGC	0.577																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1834-1836)Gag>Tag		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						101	102	101					17																	4535050		2203	4300	6503	SO:0001587	stop_gained	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535050C>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1834G>T	17.37:g.4535050C>A	ENSP00000458832:p.Glu612*					ALOX15_ENST00000574640.1_Nonsense_Mutation_p.E573*|ALOX15_ENST00000545513.1_Nonsense_Mutation_p.E634*|ALOX15_ENST00000293761.3_Nonsense_Mutation_p.E612*	p.E612*			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	1930	-			612			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Nonsense_Mutation	SNP	ENST00000570836.1	37	c.1834G>T	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301126	0.95601	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	.	.	.	3.99	1.71	0.24356	.	0.243593	0.32473	N	0.006054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.5896	9.8294	0.40932	0.0:0.5937:0.4063:0.0	.	.	.	.	X	612;634	.	ENSP00000293761:E612X	E	-	1	0	ALOX15	4481799	0.985000	0.35326	0.998000	0.56505	0.994000	0.84299	-0.000000	0.12993	0.820000	0.34516	0.563000	0.77884	GAG		0.577	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			4	52	1	0	0.00024832	1	0.00027936	4	52					A	4535050	C	A	4535050	4	1	105	1	0	0	0	0	0	1	0	0	538	864	30	5	158	5	ALOX15	17	4535050	Nonsense_Mutation	SNP	C	TCGA-S7-A7X2-01A-12D-A35I-08		4535050	76660160	16	1918										
TNFAIP1	7126	broad.mit.edu	37	chr17	26671480	26671492	+	Frame_Shift_Del	DEL	GCCACAAGCCGTA	GCCACAAGCCGTA	-													0	0	1	0	0	0	1	1	0	ccgacaactccttgttggagGccacaagccgtagccgcagc					rs373733645		TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr17:26671480_26671492delGCCACAAGCCGTA	ENST00000226225.2	+	7	1072_1084	c.805_817delGCCACAAGCCGTA	c.(805-819)gccacaagccgtagcfs	p.ATSRS269fs	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Frame_Shift_Del_p.ATSRS165fs|POLDIP2_ENST00000003607.4_5'Flank	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	269					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTGTTGGAGGCCACAAGCCGTAGCCGCAGCCA	0.592																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(805-819)gcfs		tumor necrosis factor, alpha-induced protein 1 (endothelial)																																				SO:0001589	frameshift_variant	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26671480_26671492delGCCACAAGCCGTA		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.805_817delGCCACAAGCCGTA	17.37:g.26671480_26671492delGCCACAAGCCGTA	ENSP00000226225:p.Ala269fs					TNFAIP1_ENST00000544907.2_Frame_Shift_Del_p.ATSRS165fs|TNFAIP1_ENST00000583213.1_3'UTR	p.ATSRS269fs	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	7	1072_1084	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		269					B7Z6M4|Q5TZQ1	Frame_Shift_Del	DEL	ENST00000226225.2	37	c.805_817delGCCACAAGCCGTA	CCDS11227.1																																																																																				0.592	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		8	21						8	21	---	---	---	---	-	26671492	GCCACAAGCCGTA	-	26671480	7	5	105	1	0	1	0	1	0	0	0	0	16269	1203	42	0	827	0	TNFAIP1	17	26671480	Frame_Shift_Del	DEL	GCCACAAGCCGTA	TCGA-S7-A7X2-01A-12D-A35I-08	22136430	26671480	54523730	17	1919										
FAM187B	148109	broad.mit.edu	37	chr19	35719389	35719389	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atattggaaatattggtgagGctggtgagcctgcccttctt	12	7	1	2			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr19:35719389G>C	ENST00000324675.3	-	1	243	c.195C>G	c.(193-195)agC>agG	p.S65R		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	65						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TATTGGTGAGGCTGGTGAGCC	0.507																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(193-195)agC>agG		family with sequence similarity 187, member B							58	60	59					19																	35719389		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719389G>C	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.195C>G	19.37:g.35719389G>C	ENSP00000323355:p.Ser65Arg						p.S65R	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	243	-			65					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.195C>G	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	1.628	-0.519733	0.04171	.	.	ENSG00000177558	ENST00000324675	T	0.22743	1.94	3.97	0.628	0.17681	Immunoglobulin-like fold (1);	3.059060	0.00827	N	0.001620	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.34241	0.444	B	0.32149	0.141	T	0.13495	-1.0507	10	0.28530	T	0.3	-3.4383	3.3773	0.07242	0.2196:0.0:0.5628:0.2176	.	65	Q17R55	F187B_HUMAN	R	65	ENSP00000323355:S65R	ENSP00000323355:S65R	S	-	3	2	FAM187B	40411229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.067000	0.11579	0.237000	0.21200	-0.251000	0.11542	AGC		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		14	39	0	0	0	1	0	14	39					C	35719389	G	C	35719389	3	2	105	1	0	0	0	0	1	0	0	0	5513	1194	42	5	922	5	FAM187B	19	35719389	Missense_Mutation	SNP	G	TCGA-S7-A7X2-01A-12D-A35I-08		35719389	23409594	18	1920										
ZNF845	91664	broad.mit.edu	37	chr19	53854724	53854724	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgtcatcgtagatgtcacActggcaagaaaccttacaag	8	10	2	2			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chr19:53854724A>G	ENST00000595091.1	+	5	1015	c.796A>G	c.(796-798)Act>Gct	p.T266A	ZNF845_ENST00000458035.1_Missense_Mutation_p.T266A			Q96IR2	ZN845_HUMAN	zinc finger protein 845	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGATGTCACACTGGCAAGAA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(796-798)Act>Gct		zinc finger protein 845							103	85	90					19																	53854724		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854724A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.796A>G	19.37:g.53854724A>G	ENSP00000470005:p.Thr266Ala					ZNF845_ENST00000595091.1_Missense_Mutation_p.T266A	p.T266A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	913	+			266						Missense_Mutation	SNP	ENST00000595091.1	37	c.796A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827114	0.32329	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.26518	1.73	1.91	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31827	0.0809	M	0.73598	2.24	0.22240	N	0.999269	B	0.22276	0.067	B	0.31812	0.136	T	0.35674	-0.9779	9	0.59425	D	0.04	.	8.5551	0.33476	1.0:0.0:0.0:0.0	.	266	Q96IR2	ZN845_HUMAN	A	266	ENSP00000388311:T266A	ENSP00000412086:T266A	T	+	1	0	ZNF845	58546536	0.002000	0.14202	0.009000	0.14445	0.199000	0.23934	0.731000	0.26058	0.865000	0.35603	0.172000	0.16884	ACT		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		14	33	0	0	0	1	0	14	33					G	53854724	A	G	53854724	3	3	105	1	0	0	0	0	1	0	0	0	18188	159	6	4	806	4	ZNF845	19	53854724	Missense_Mutation	SNP	A	TCGA-S7-A7X2-01A-12D-A35I-08	18135335	53854724	5274259	19	1921										
POLA1	5422	broad.mit.edu	37	chrX	24761358	24761358	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgatattagggagatgaagaTgaagaaattgatggagatac	13	1	0	8			TCGA-S7-A7X2-01A-12D-A35I-08	TCGA-S7-A7X2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a75eae-4aa4-4d54-b180-d5dd16e85424	1c55bf22-500e-4742-a4ad-9d0a39aa97fe	g.chrX:24761358T>C	ENST00000379059.3	+	23	2475	c.2460T>C	c.(2458-2460)gaT>gaC	p.D820D	POLA1_ENST00000379068.3_Silent_p.D826D|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	820					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GAGATGAAGATGAAGAAATTG	0.378																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(2476-2478)gaT>gaC		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						96	90	92					X																	24761358		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24761358T>C		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2460T>C	X.37:g.24761358T>C						POLA1_ENST00000379059.3_Silent_p.D820D	p.D826D			P09884	DPOLA_HUMAN			23	2521	+			820					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.2478T>C	CCDS14214.1																																																																																				0.378	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		3	37	0	0	0	1	0	3	37					C	24761358	T	C	24761358	2	2	105	1	0	0	0	0	0	0	0	1	12187	1461	51	4		4	POLA1	23	24761358	Silent	SNP	T	TCGA-S7-A7X2-01A-12D-A35I-08		24761358	130509202	20	1922										
C1orf89	79363	broad.mit.edu	37	chr1	16558644	16558644	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	attgagtatgtgggcaacgtCggccagcccagcccgcccgt	13	14	0	1			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:16558644C>G	ENST00000375599.3	-	5	1095	c.676G>C	c.(676-678)Gac>Cac	p.D226H	C1orf134_ENST00000375605.2_5'Flank	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	226	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						TGGGCAACGTCGGCCAGCCCA	0.687																																						ENST00000375599.3																			0				large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						c.(676-678)Gac>Cac		REM2 and RAB-like small GTPase 1							42	45	44					1																	16558644		2203	4300	6503	SO:0001583	missense	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16558644C>G	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"		"chromosome 1 open reading frame 89"	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.676G>C	1.37:g.16558644C>G	ENSP00000364749:p.Asp226His						p.D226H	NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN			5	1095	-			226			Small GTPase-like.		Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37	c.676G>C	CCDS171.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251711	0.59212	.	.	ENSG00000132881	ENST00000375599	T	0.58506	0.33	5.47	5.47	0.80525	.	0.101850	0.64402	D	0.000003	T	0.63236	0.2494	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.65573	0.936	T	0.65100	-0.6250	10	0.49607	T	0.09	-29.7484	16.8326	0.85948	0.0:1.0:0.0:0.0	.	226	Q9BU20	RSG1_HUMAN	H	226	ENSP00000364749:D226H	ENSP00000364749:D226H	D	-	1	0	RSG1	16431231	1.000000	0.71417	0.070000	0.20053	0.106000	0.19336	5.514000	0.67043	2.553000	0.86117	0.655000	0.94253	GAC		0.687	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		4	27	0	0	0	1	0	4	27					G	16558644	C	G	16558644	3	3	106	1	0	0	0	0	1	0	0	0	2066	884	31	5	104	5	C1orf89	1	16558644	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		16558644	232691977	1	1923										
TRIM62	55223	broad.mit.edu	37	chr1	33612992	33612992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tgtcccggacgttaagccgcGtccagggctccgtgcaggcg	15	14	0	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:33612992G>A	ENST00000291416.5	-	5	1447	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	405	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GTTAAGCCGCGTCCAGGGCTC	0.587																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1213-1215)aCg>aTg		tripartite motif containing 62							88	86	87					1																	33612992		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612992G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1214C>T	1.37:g.33612992G>A	ENSP00000291416:p.Thr405Met					TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M	p.T405M	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1447	-		Myeloproliferative disorder(586;0.0393)	405			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1214C>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218945	0.79464	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.71934	-0.61;-0.61	5.68	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	M	0.88310	2.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.86819	0.2003	10	0.52906	T	0.07	.	12.3042	0.54891	0.0826:0.0:0.9174:0.0	.	405	Q9BVG3	TRI62_HUMAN	M	405;284	ENSP00000291416:T405M;ENSP00000441173:T284M	ENSP00000291416:T405M	T	-	2	0	TRIM62	33385579	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.996000	0.88334	1.397000	0.46682	0.436000	0.28706	ACG		0.587	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		19	18	0	0	0	1	0	19	18					A	33612992	G	A	33612992	3	1	106	1	0	0	0	0	1	0	0	0	16534	1145	40	1	217	1	TRIM62	1	33612992	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	17054348	33612992	215637629	2	1924										
FLG	2312	broad.mit.edu	37	chr1	152282021	152282021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tccagtgctgggccctgtgcGtccatgggcggactcagact	14	13	1	1	rs201021216		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:152282021G>A	ENST00000368799.1	-	3	5376	c.5341C>T	c.(5341-5343)Cgc>Tgc	p.R1781C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1781	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1781C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCTGTGCGTCCATGGGCG	0.602									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1781C(1)	endometrium(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5341-5343)Cgc>Tgc		filaggrin							211	217	215					1																	152282021		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282021G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5341C>T	1.37:g.152282021G>A	ENSP00000357789:p.Arg1781Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1781C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5376	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1781			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5341C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713188	0.30413	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01745	4.66	4.51	-1.39	0.08997	.	.	.	.	.	T	0.01905	0.0060	M	0.63428	1.95	0.09310	N	1	D	0.67145	0.996	P	0.55667	0.781	T	0.33033	-0.9884	9	0.72032	D	0.01	.	10.1974	0.43062	0.0859:0.578:0.3361:0.0	.	1781	P20930	FILA_HUMAN	C	1781;16	ENSP00000357789:R1781C	ENSP00000271820:R16C	R	-	1	0	FLG	150548645	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.051000	0.00628	-0.485000	0.06754	-0.311000	0.09066	CGC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	196	0	0	0	1	0	5	196					A	152282021	G	A	152282021	3	1	106	1	0	0	0	0	1	0	0	0	5922	1145	40	1	6848	1	FLG	1	152282021	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	118669029	152282021	96968600	3	1925										
TMEM79	84283	broad.mit.edu	37	chr1	156261208	156261208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	gctgacctttgccgtgggccGctccttccgaggcttcggct	13	15	0	1			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:156261208G>A	ENST00000405535.2	+	4	1175	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	TMEM79_ENST00000495881.1_3'UTR|C1orf85_ENST00000482579.1_5'Flank|TMEM79_ENST00000357501.2_Silent_p.P96P|TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	335					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GCCGTGGGCCGCTCCTTCCGA	0.587																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(1003-1005)cGc>cAc		transmembrane protein 79							111	106	108					1																	156261208		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156261208G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1004G>A	1.37:g.156261208G>A	ENSP00000384748:p.Arg335His					C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H|TMEM79_ENST00000357501.2_Silent_p.P96P	p.R335H	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			4	1175	+	Hepatocellular(266;0.158)		335					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.1004G>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973980	0.53720	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.49139	0.79;0.79	5.7	4.79	0.61399	.	0.052687	0.85682	D	0.000000	T	0.43634	0.1256	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.52749	-0.8534	10	0.62326	D	0.03	-4.8324	13.4047	0.60906	0.0761:0.0:0.9239:0.0	.	335	Q9BSE2	TMM79_HUMAN	H	335	ENSP00000295694:R335H;ENSP00000384748:R335H	ENSP00000295694:R335H	R	+	2	0	TMEM79	154527832	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	7.008000	0.76341	1.418000	0.47098	-0.136000	0.14681	CGC		0.587	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		4	93	0	0	0	1	0	4	93					A	156261208	G	A	156261208	3	1	106	1	0	0	0	0	1	0	0	0	16200	1087	38	1	1014	1	TMEM79	1	156261208	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	3979187	156261208	92989413	4	1926										
LRRN2	10446	broad.mit.edu	37	chr1	204587841	204587841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ggaggcttggggggaagcttCgtggggagatgaggggcaaa	22	4	0	2	rs138573874		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr1:204587841C>T	ENST00000367175.1	-	1	3492	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	427	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGGGAAGCTTCGTGGGGAGAT	0.652																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1279-1281)cGa>cAa		leucine rich repeat neuronal 2		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	36	33	34		1280,1280	5.4	1	1	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRRN2	NM_006338.2,NM_201630.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	427/714,427/714	204587841	1,13005	2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587841C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1280G>A	1.37:g.204587841C>T	ENSP00000356143:p.Arg427Gln					LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q	p.R427Q			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3492	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		427			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1280G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694857	0.30052	0.0	1.16E-4	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.59772	0.24;0.24;0.24	5.37	5.37	0.77165	Immunoglobulin-like (1);	0.000000	0.41396	D	0.000894	T	0.37210	0.0995	N	0.17631	0.505	0.34676	D	0.724248	B	0.28208	0.203	B	0.24394	0.053	T	0.47169	-0.9138	10	0.27082	T	0.32	.	7.401	0.26965	0.0:0.7917:0.0:0.2083	.	427	O75325	LRRN2_HUMAN	Q	427	ENSP00000356144:R427Q;ENSP00000356145:R427Q;ENSP00000356143:R427Q	ENSP00000356143:R427Q	R	-	2	0	LRRN2	202854464	0.004000	0.15560	1.000000	0.80357	0.925000	0.55904	0.529000	0.23019	2.518000	0.84900	0.467000	0.42956	CGA		0.652	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		8	14	0	0	0	1	0	8	14					T	204587841	C	T	204587841	3	4	106	1	0	0	0	0	1	0	0	0	9035	884	31	2	865	2	LRRN2	1	204587841	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08	48326633	204587841	44662780	5	1927										
APOB	338	broad.mit.edu	37	chr2	21229684	21229684	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tggttaaaaagttcagcattGgtattcagtgtgatgacact	10	5	2	2	rs369022661		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:21229684G>T	ENST00000233242.1	-	26	10183	c.10056C>A	c.(10054-10056)acC>acA	p.T3352T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3352					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCAGCATTGGTATTCAGTG	0.368																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(10054-10056)acC>acA		apolipoprotein B	Atorvastatin(DB01076)	G		0,4406		0,0,2203	106	103	104		10056	2.6	1	2		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		3352/4564	21229684	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229684G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10056C>A	2.37:g.21229684G>T							p.T3352T	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10183	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3352					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10056C>A	CCDS1703.1																																																																																				0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			38	58	1	0	6.05902e-23	1	6.55029e-23	38	58					T	21229684	G	T	21229684	2	4	106	1	0	0	0	0	0	0	0	1	785	1335	47	5		5	APOB	2	21229684	Silent	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		21229684	221969689	6	1928										
LCT	3938	broad.mit.edu	37	chr2	136564700	136564700	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ccatcctgaactcctcacctGatatgcagcagaagctgcac	7	15	1	3			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:136564700G>A	ENST00000264162.2	-	9	4181	c.4171C>T	c.(4171-4173)Cag>Tag	p.Q1391*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1391	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCTCACCTGATATGCAGCA	0.572																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4171-4173)Cag>Tag		lactase							109	88	95					2																	136564700		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136564700G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4171C>T	2.37:g.136564700G>A	ENSP00000264162:p.Gln1391*						p.Q1391*	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	9	4181	-			1391			4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.4171C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	39	7.881305	0.98539	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.6403	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	X	1391;823	.	ENSP00000264162:Q1391X	Q	-	1	0	LCT	136281170	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CAG		0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		19	19	0	0	0	1	0	19	19					A	136564700	G	A	136564700	4	1	106	1	0	0	0	0	0	1	0	0	8693	1299	45	3	1648	3	LCT	2	136564700	Nonsense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	115335016	136564700	106634673	7	1929										
HOXD11	3237	broad.mit.edu	37	chr2	176973665	176973665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	gcggtcccggaaaaagcgctGtccctataccaagtaccaga	10	13	0	1			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr2:176973665G>A	ENST00000249504.5	+	2	882	c.812G>A	c.(811-813)tGt>tAt	p.C271Y	HOXD10_ENST00000490088.2_3'UTR|AC009336.1_ENST00000401374.2_RNA|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	271					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AAAAAGCGCTGTCCCTATACC	0.577			T	NUP98	AML																																	ENST00000249504.5				Dom	yes		2	2q31-q32	3237	T	homeo box D11			L	NUP98		AML		0											c.(811-813)tGt>tAt		homeobox D11							83	91	88					2																	176973665		2203	4300	6503	SO:0001583	missense	3237					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176973665G>A		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"Homeoboxes / ANTP class : HOXL subclass"	5134	protein-coding gene	gene with protein product		142986	"homeo box D11"	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.812G>A	2.37:g.176973665G>A	ENSP00000249504:p.Cys271Tyr					HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	p.C271Y	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	882	+			271					A6NIS4|Q9NS02	Missense_Mutation	SNP	ENST00000249504.5	37	c.812G>A	CCDS2265.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031443	0.75504	.	.	ENSG00000128713	ENST00000249504;ENST00000392538	D	0.96041	-3.89	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.38217	U	0.001772	D	0.95940	0.8678	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97054	0.9766	10	0.87932	D	0	.	19.2199	0.93791	0.0:0.0:1.0:0.0	.	271	P31277	HXD11_HUMAN	Y	271;92	ENSP00000249504:C271Y	ENSP00000249504:C271Y	C	+	2	0	HOXD11	176681911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.847000	0.99503	2.552000	0.86080	0.603000	0.83216	TGT		0.577	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			5	69	0	0	0	1	0	5	69					A	176973665	G	A	176973665	3	1	106	1	0	0	0	0	1	0	0	0	7320	1377	48	3	818	3	HOXD11	2	176973665	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08	40408965	176973665	66225708	8	1930										
CACNA1D	776	broad.mit.edu	37	chr3	53766101	53766101	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ggacccctatccgccttgcgAtgtgccaggtatggtggcgg	15	12	0	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr3:53766101A>G	ENST00000350061.5	+	18	2976	c.2465A>G	c.(2464-2466)gAt>gGt	p.D822G	CACNA1D_ENST00000288139.4_Missense_Mutation_p.D842G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D822G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	822					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGCCTTGCGATGTGCCAGGT	0.557																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2524-2526)gAt>gGt		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						83	77	79					3																	53766101		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53766101A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2465A>G	3.37:g.53766101A>G	ENSP00000288133:p.Asp822Gly					CACNA1D_ENST00000350061.5_Missense_Mutation_p.D822G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D822G	p.D842G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	19	2643	+			822					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2525A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211191	0.58343	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.96265	-3.92;-3.95;-3.94;-3.96	5.96	5.96	0.96718	.	.	.	.	.	D	0.93822	0.8024	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	D	0.90533	0.4497	9	0.33141	T	0.24	.	14.1748	0.65534	1.0:0.0:0.0:0.0	.	822;515;822;842	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	G	822;842;822;515	ENSP00000288133:D822G;ENSP00000288139:D842G;ENSP00000409174:D822G;ENSP00000418014:D515G	ENSP00000288139:D842G	D	+	2	0	CACNA1D	53741141	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.581000	0.82535	2.270000	0.75569	0.533000	0.62120	GAT		0.557	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		3	41	0	0	0	1	0	3	41					G	53766101	A	G	53766101	3	3	106	1	0	0	0	0	1	0	0	0	2541	333	12	4	2707	4	CACNA1D	3	53766101	Missense_Mutation	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08		53766101	144256329	9	1931										
UGT3A2	167127	broad.mit.edu	37	chr5	36049138	36049138	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tgagacaaaactggcctagaGccttctgtgaaatgttcctt	9	9	1	3			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr5:36049138G>A	ENST00000282507.3	-	4	797	c.696C>T	c.(694-696)ggC>ggT	p.G232G	UGT3A2_ENST00000513300.1_Silent_p.G198G|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	232					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCCTAGAGCCTTCTGTGA	0.438																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(694-696)ggC>ggT		UDP glycosyltransferase 3 family, polypeptide A2							148	149	148					5																	36049138		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049138G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.696C>T	5.37:g.36049138G>A						UGT3A2_ENST00000513300.1_Silent_p.G198G|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron	p.G232G	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	797	-	all_lung(31;0.000179)		232					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.696C>T	CCDS3914.1																																																																																				0.438	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		34	46	0	0	0	1	0	34	46					A	36049138	G	A	36049138	2	1	106	1	0	0	0	0	0	0	0	1	16961	958	34	3		3	UGT3A2	5	36049138	Silent	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		36049138	144866122	10	1932										
SKIV2L2	23517	broad.mit.edu	37	chr5	54674238	54674238	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tagacagcagcttgccaaatTgggtaaagaaattgaagaat	10	5	0	4			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr5:54674238T>G	ENST00000230640.5	+	17	2161	c.1907T>G	c.(1906-1908)tTg>tGg	p.L636W	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	636					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTTGCCAAATTGGGTAAAGAA	0.313																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1906-1908)tTg>tGg		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							55	59	58					5																	54674238		2202	4292	6494	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54674238T>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1907T>G	5.37:g.54674238T>G	ENSP00000230640:p.Leu636Trp					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W	p.L636W	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			17	2161	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	636					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1907T>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674859	0.88445	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.35973	1.28;1.31	5.75	5.75	0.90469	.	0.145139	0.47852	D	0.000213	T	0.65450	0.2692	M	0.89715	3.055	0.58432	D	0.999999	D;D	0.57899	0.976;0.981	P;P	0.62014	0.853;0.897	T	0.73366	-0.4005	10	0.66056	D	0.02	-27.4038	16.0262	0.80548	0.0:0.0:0.0:1.0	.	535;636	F5H7E2;P42285	.;SK2L2_HUMAN	W	636;535	ENSP00000230640:L636W;ENSP00000442583:L535W	ENSP00000230640:L636W	L	+	2	0	SKIV2L2	54709995	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.641000	0.83368	2.179000	0.69175	0.533000	0.62120	TTG		0.313	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			7	67	0	0	0	1	0	7	67					G	54674238	T	G	54674238	3	3	106	1	0	0	0	0	1	0	0	0	14360	1821	63	5	1973	5	SKIV2L2	5	54674238	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	18625100	54674238	126241022	11	1933										
COL12A1	1303	broad.mit.edu	37	chr6	75893695	75893695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	agaggtcgcgaacactgagcGtggttgtctgaggccccaca	14	11	1	3	rs201657256		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr6:75893695G>A	ENST00000322507.8	-	9	1472	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	388	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACACTGAGCGTGGTTGTCTG	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		18350	0		0	False		,,,				2504	0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1162-1164)aCg>aTg		collagen, type XII, alpha 1							139	135	137					6																	75893695		2024	4188	6212	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893695G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1163C>T	6.37:g.75893695G>A	ENSP00000325146:p.Thr388Met					COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron	p.T388M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			9	1472	-			388			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1163C>T	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.092	-0.408120	0.04832	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.31	-1.88	0.07713	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.000480	0.08065	N	0.998966	T	0.18383	0.0441	N	0.24115	0.695	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.24728	-1.0152	10	0.48119	T	0.1	.	6.7736	0.23607	0.5112:0.1219:0.3669:0.0	.	388;388	D6RGG3;Q99715	.;COCA1_HUMAN	M	388	ENSP00000325146:T388M;ENSP00000412864:T388M;ENSP00000421216:T388M	ENSP00000325146:T388M	T	-	2	0	COL12A1	75950415	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	0.028000	0.13644	-0.841000	0.04200	-0.982000	0.02568	ACG		0.512	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		5	112	0	0	0	1	0	5	112					A	75893695	G	A	75893695	3	1	106	1	0	0	0	0	1	0	0	0	3669	1145	40	1	8260	1	COL12A1	6	75893695	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		75893695	95221372	12	1934										
TMEM120A	5447	broad.mit.edu	37	chr7	75616893	75616893	+	IGR	DEL	C	C	-													0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	aaggcagcaggaaggtgaggCcccgccacatccaggactgg							TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr7:75616893delC	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GAAGGTGAGGCCCCGCCACAT	0.632																																						ENST00000493111.2																			0													transmembrane protein 120A							24	34	30					7																	75616893		2076	4185	6261	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75616893delC	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616893delC						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	811	-								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	DEL	ENST00000461988.1	37		CCDS5579.1																																																																																				0.632	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		2	4						2	4	---	---	---	---	-	75616893	C	-	75616893	6	5	106	0	1	1	0	1	0	0	0	0	16030	739	26	0		0	TMEM120A	7	75616893	IGR	DEL	C	TCGA-SA-A6C2-01A-11D-A35I-08		75616893	83521770	13	1935										
MYST3	7994	broad.mit.edu	37	chr8	41792302	41792302	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ccatccctttttctttttcaAaggtgtggatgtatctggct	8	9	3	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:41792302A>G	ENST00000396930.3	-	18	3979	c.3436T>C	c.(3436-3438)Ttg>Ctg	p.L1146L	KAT6A_ENST00000406337.1_Silent_p.L1146L|KAT6A_ENST00000265713.2_Silent_p.L1146L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1146					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTCTTTTTCAAAGGTGTGGAT	0.428																																						ENST00000396930.3																			0											c.(3436-3438)Ttg>Ctg		K(lysine) acetyltransferase 6A							191	205	200					8																	41792302		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41792302A>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3436T>C	8.37:g.41792302A>G						KAT6A_ENST00000406337.1_Silent_p.L1146L|KAT6A_ENST00000265713.2_Silent_p.L1146L	p.L1146L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	3979	-			1146					Q76L81	Silent	SNP	ENST00000396930.3	37	c.3436T>C	CCDS6124.1																																																																																				0.428	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		36	184	0	0	0	1	0	36	184					G	41792302	A	G	41792302	2	3	106	1	0	0	0	0	0	0	0	1	10104	11	1	4		4	MYST3	8	41792302	Silent	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08		41792302	104571720	14	1936										
CA2	760	broad.mit.edu	37	chr8	86389491	86389491	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	gctcaaggaacccatcagcgTcagcagcgagcaggtttgtt	12	11	3	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:86389491T>A	ENST00000285379.5	+	6	880	c.650T>A	c.(649-651)gTc>gAc	p.V217D		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	217					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CCCATCAGCGTCAGCAGCGAG	0.517																																						ENST00000285379.5																			0				central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11						c.(649-651)gTc>gAc		carbonic anhydrase II	Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						236	229	232					8																	86389491		2203	4300	6503	SO:0001583	missense	760				one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389491T>A	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.650T>A	8.37:g.86389491T>A	ENSP00000285379:p.Val217Asp						p.V217D	NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			6	880	+			217					B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	ENST00000285379.5	37	c.650T>A	CCDS6239.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376947	0.61735	.	.	ENSG00000104267	ENST00000285379	T	0.72505	-0.66	5.54	5.54	0.83059	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.109676	0.64402	D	0.000008	D	0.89870	0.6840	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93452	0.6803	10	0.87932	D	0	-0.2714	14.8633	0.70397	0.0:0.0:0.0:1.0	.	217	P00918	CAH2_HUMAN	D	217	ENSP00000285379:V217D	ENSP00000285379:V217D	V	+	2	0	CA2	86576743	0.997000	0.39634	0.174000	0.22961	0.503000	0.33858	6.260000	0.72502	2.108000	0.64289	0.454000	0.30748	GTC		0.517	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2	NM_000067		59	80	0	0	0	1	0	59	80					A	86389491	T	A	86389491	3	1	106	1	0	0	0	0	1	0	0	0	2516	1667	58	5	672	5	CA2	8	86389491	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	44597189	86389491	59974531	15	1937										
RAD54B	25788	broad.mit.edu	37	chr8	95479758	95479758	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	caactgacttggtgctgcagAtcgtctcatattcagcagtc	9	11	2	2			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:95479758A>T	ENST00000336148.5	-	2	134	c.10T>A	c.(10-12)Tct>Act	p.S4T	RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	4					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGTGCTGCAGATCGTCTCATA	0.373								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(10-12)Tct>Act	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							112	110	111					8																	95479758		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95479758A>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.10T>A	8.37:g.95479758A>T	ENSP00000336606:p.Ser4Thr					RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T	p.S4T	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		2	134	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.10T>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537176	0.65085	.	.	ENSG00000197275	ENST00000336148;ENST00000523839;ENST00000297592	D;T;T	0.91351	-2.83;0.21;0.45	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	D	0.91828	0.7414	L	0.29908	0.895	0.53005	D	0.999962	D;D	0.76494	0.999;0.993	D;D	0.83275	0.996;0.971	D	0.92769	0.6230	10	0.87932	D	0	-8.4832	12.8601	0.57908	1.0:0.0:0.0:0.0	.	4;4	F6WBS8;Q9Y620	.;RA54B_HUMAN	T	4	ENSP00000336606:S4T;ENSP00000428554:S4T;ENSP00000430153:S4T	ENSP00000430153:S4T	S	-	1	0	RAD54B	95548934	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	5.203000	0.65174	2.010000	0.58986	0.459000	0.35465	TCT		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		35	53	0	0	0	1	0	35	53					T	95479758	A	T	95479758	3	4	106	1	0	0	0	0	1	0	0	0	12992	333	12	5	2778	5	RAD54B	8	95479758	Missense_Mutation	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08	9090267	95479758	50884264	16	1938										
ARHGAP39	80728	broad.mit.edu	37	chr8	145773409	145773409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tgttgggctggaggaacggcCggggcttacggcccggcgac	19	11	0	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr8:145773409C>T	ENST00000276826.5	-	4	1262	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	354	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGGAACGGCCGGGGCTTACG	0.697																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1060-1062)cGg>cAg		Rho GTPase activating protein 39							14	14	14					8																	145773409		2171	4240	6411	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773409C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1061G>A	8.37:g.145773409C>T	ENSP00000276826:p.Arg354Gln					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q	p.R354Q			Q9C0H5	RHG39_HUMAN			4	1262	-			354			Pro-rich.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1061G>A		.	.	.	.	.	.	.	.	.	.	C	1.068	-0.670761	0.03403	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.67523	-0.27;-0.0;-0.27	4.95	-0.116	0.13555	.	1.553630	0.03081	N	0.158461	T	0.40347	0.1113	N	0.14661	0.345	0.09310	N	1	B;B	0.32188	0.245;0.359	B;B	0.21360	0.015;0.034	T	0.17837	-1.0356	10	0.18710	T	0.47	-15.8464	0.402	0.00427	0.1881:0.2055:0.2255:0.3809	.	354;354	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	Q	354	ENSP00000276826:R354Q;ENSP00000366522:R354Q;ENSP00000445075:R354Q	ENSP00000276826:R354Q	R	-	2	0	ARHGAP39	145744217	0.007000	0.16637	0.000000	0.03702	0.047000	0.14425	1.579000	0.36536	0.062000	0.16340	0.655000	0.94253	CGG		0.697	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			8	7	0	0	0	1	0	8	7					T	145773409	C	T	145773409	3	4	106	1	0	0	0	0	1	0	0	0	884	652	23	2	2315	2	ARHGAP39	8	145773409	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08	50293651	145773409	590613	17	1939										
ACER2	340485	broad.mit.edu	37	chr9	19446412	19446412	+	Frame_Shift_Del	DEL	A	A	-													0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	acttcccctacctgcactgcAtgtggtaagcccctgctaat							TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr9:19446412delA	ENST00000340967.2	+	5	663	c.637delA	c.(637-639)atgfs	p.M213fs		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	213					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTGCACTGCATGTGGTAAGC	0.592																																						ENST00000340967.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						c.(637-639)tgfs		alkaline ceramidase 2							95	81	86					9																	19446412		2203	4300	6503	SO:0001589	frameshift_variant	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19446412delA	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"Alkaline ceramidase"	23675	protein-coding gene	gene with protein product		613492	"N-acylsphingosine amidohydrolase 3-like"	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.637delA	9.37:g.19446412delA	ENSP00000342609:p.Met213fs						p.M213fs	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN			5	663	+			213					A2A3R8|Q569G5|Q5VZR7|Q71RD2	Frame_Shift_Del	DEL	ENST00000340967.2	37	c.637delA	CCDS34992.1																																																																																				0.592	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540		8	85						8	85	---	---	---	---	-	19446412	A	-	19446412	7	5	106	1	0	1	0	1	0	0	0	0	139	217	8	0	655	0	ACER2	9	19446412	Frame_Shift_Del	DEL	A	TCGA-SA-A6C2-01A-11D-A35I-08		19446412	121767019	18	1940										
OR52I1	390037	broad.mit.edu	37	chr11	4615553	4615553	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ttctgctcgggagacagctcCatcagctttagtgcttgttt	10	10	2	1	rs186190896	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr11:4615553C>A	ENST00000530443.2	+	1	285	c.285C>A	c.(283-285)tcC>tcA	p.S95S	OR52I1_ENST00000450052.2_Silent_p.S119S	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGACAGCTCCATCAGCTTTA	0.512													C|||	8	0.00159744	0.0053	0	5008	,	,		22842	0.001		0	False		,,,				2504	0					ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(355-357)tcC>tcA		olfactory receptor, family 52, subfamily I, member 1		C		11,4391	16.8+/-37.8	0,11,2190	176	165	169		285	2.1	1	11		169	0,8596		0,0,4298	no	coding-synonymous	OR52I1	NM_001005169.1		0,11,6488	AA,AC,CC		0.0,0.2499,0.0846		95/325	4615553	11,12987	2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615553C>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.285C>A	11.37:g.4615553C>A						OR52I1_ENST00000530443.2_Silent_p.S95S	p.S119S			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	357	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	95					Q6IF91	Silent	SNP	ENST00000530443.2	37	c.357C>A	CCDS59223.1																																																																																				0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		4	112	1	0	0.014758	1	0.0151364	4	112					A	4615553	C	A	4615553	2	1	106	1	0	0	0	0	0	0	0	1	11120	581	21	5		5	OR52I1	11	4615553	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		4615553	130390963	19	1941										
GRIP1	23426	broad.mit.edu	37	chr12	66923631	66923631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ctcgaattacaaaaccaaagGtattgccttctttatgtaat	5	8	1	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr12:66923631G>A	ENST00000398016.3	-	5	550	c.482C>T	c.(481-483)aCc>aTc	p.T161I	GRIP1_ENST00000359742.4_Missense_Mutation_p.T161I|GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAAACCAAAGGTATTGCCTTC	0.343																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(481-483)aCc>aTc		glutamate receptor interacting protein 1							125	116	119					12																	66923631		1834	4079	5913	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66923631G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.482C>T	12.37:g.66923631G>A	ENSP00000381098:p.Thr161Ile					GRIP1_ENST00000398016.3_Missense_Mutation_p.T161I|GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I	p.T161I			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	5	722	-			161			PDZ 2.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.482C>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966579	0.74131	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000540854;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.38	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.055515	0.64402	D	0.000002	T	0.15305	0.0369	N	0.16166	0.38	0.54753	D	0.999989	P;P;P	0.46512	0.879;0.692;0.879	P;P;P	0.47941	0.562;0.459;0.562	T	0.09185	-1.0686	9	.	.	.	-18.265	16.3727	0.83370	0.0:0.0:1.0:0.0	.	161;161;161	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	I	161;161;161;32;161;105;105;134;105;105;187	ENSP00000381098:T161I;ENSP00000352780:T161I;ENSP00000286445:T161I;ENSP00000443006:T32I;ENSP00000446047:T161I;ENSP00000446024:T105I;ENSP00000446011:T105I;ENSP00000439124:T134I;ENSP00000438500:T105I;ENSP00000443392:T105I;ENSP00000438921:T187I	.	T	-	2	0	GRIP1	65209898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.571000	0.67404	2.474000	0.83562	0.557000	0.71058	ACC		0.343	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			7	58	0	0	0	1	0	7	58					A	66923631	G	A	66923631	3	1	106	1	0	0	0	0	1	0	0	0	6787	1261	44	3	2828	3	GRIP1	12	66923631	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		66923631	66928264	20	1942										
SYT16	83851	broad.mit.edu	37	chr14	62542092	62542093	+	Frame_Shift_Ins	INS	-	-	C													0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ctatgccactgacagctcctINSccatgtggagtccagaggca							TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr14:62542092_62542093insC	ENST00000430451.2	+	3	1173_1174	c.976_977insC	c.(976-978)tccfs	p.S326fs	SYT16_ENST00000446982.2_Frame_Shift_Ins_p.S326fs|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	326					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGACAGCTCCTCCATGTGGAGT	0.475																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(976-978)catfs		synaptotagmin XVI																																				SO:0001589	frameshift_variant	83851							g.chr14:62542092_62542093insC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.978dupC	14.37:g.62542094_62542094dupC	ENSP00000394700:p.Ser326fs					RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Frame_Shift_Ins_p.H326fs	p.H326fs	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	3	1173_1174	+			326					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Frame_Shift_Ins	INS	ENST00000430451.2	37	c.976_977insC	CCDS45121.1																																																																																				0.475	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		57	50						57	50	---	---	---	---	C	62542093	-	C	62542092	7	5	106	1	0	1	1	0	0	0	0	0	15469	1551	54	0	986	0	SYT16	14	62542092	Frame_Shift_Ins	INS	-	TCGA-SA-A6C2-01A-11D-A35I-08		62542092	44807448	21	1943										
AKAP5	9495	broad.mit.edu	37	chr14	64936274	64936274	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	aggatagaacttcagaacaaTatgaaacactcttaattgaa	6	6	2	4			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr14:64936274T>G	ENST00000394718.4	+	2	1540	c.1162T>G	c.(1162-1164)Tat>Gat	p.Y388D	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.Y388D	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	388					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TTCAGAACAATATGAAACACT	0.338																																						ENST00000320636.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13						c.(1162-1164)Tat>Gat		A kinase (PRKA) anchor protein 5							96	107	103					14																	64936274		2202	4300	6502	SO:0001583	missense	9495				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding	g.chr14:64936274T>G	M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.1162T>G	14.37:g.64936274T>G	ENSP00000378207:p.Tyr388Asp					ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.Y388D	p.Y388D			P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	1	2450	+			388					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1162T>G	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873379	0.72180	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.55588	0.51;0.51	5.51	5.51	0.81932	.	0.000000	0.48767	D	0.000164	T	0.61702	0.2368	L	0.29908	0.895	0.36024	D	0.838924	D	0.89917	1.0	D	0.87578	0.998	T	0.71487	-0.4578	10	0.87932	D	0	-16.3176	14.1604	0.65443	0.0:0.0:0.0:1.0	.	388	P24588	AKAP5_HUMAN	D	388	ENSP00000378207:Y388D;ENSP00000315615:Y388D	ENSP00000315615:Y388D	Y	+	1	0	AKAP5	64006027	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.242000	0.51384	2.217000	0.71921	0.482000	0.46254	TAT		0.338	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			7	116	0	0	0	1	0	7	116					G	64936274	T	G	64936274	3	3	106	1	0	0	0	0	1	0	0	0	454	1406	49	5	1164	5	AKAP5	14	64936274	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	2394182	64936274	42413266	22	1944										
BRD7	29117	broad.mit.edu	37	chr16	50357568	50357571	+	Frame_Shift_Del	DEL	ACAT	ACAT	-													0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ccagtaaactatctgccatgAcatacggataatcttggcac					rs569809930|rs78557784	byFrequency	TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr16:50357568_50357571delACAT	ENST00000394688.3	-	12	1529_1532	c.1370_1373delATGT	c.(1369-1374)tatgtcfs	p.YV457fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.YV457fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	457					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATCTGCCATGACATACGGATAATC	0.436																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(1369-1374)tcfs		bromodomain containing 7																																				SO:0001589	frameshift_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50357568_50357571delACAT	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1370_1373delATGT	16.37:g.50357568_50357571delACAT	ENSP00000378180:p.Tyr457fs					BRD7_ENST00000394689.2_Frame_Shift_Del_p.YV457fs	p.YV457fs			Q9NPI1	BRD7_HUMAN			12	1529_1532	-		all_cancers(37;0.0127)	457					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	ENST00000394688.3	37	c.1370_1373delATGT	CCDS10742.1																																																																																				0.436	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		7	127						7	127	---	---	---	---	-	50357571	ACAT	-	50357568	7	5	106	1	0	1	0	1	0	0	0	0	1505	275	10	0	609	0	BRD7	16	50357568	Frame_Shift_Del	DEL	ACAT	TCGA-SA-A6C2-01A-11D-A35I-08		50357568	39997185	23	1945										
TRIM16	10626	broad.mit.edu	37	chr17	15554470	15554470	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	actgtgctcctggcaacagtCctggcagatgcactgctgat	11	12	0	2			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:15554470C>G	ENST00000578237.1	-	6	1309	c.454G>C	c.(454-456)Gac>Cac	p.D152H	RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000336708.7_Missense_Mutation_p.D152H|TRIM16_ENST00000416464.2_Intron|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.D152H|TRIM16_ENST00000581224.1_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	152					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGGCAACAGTCCTGGCAGATG	0.602																																						ENST00000455584.2																			0											c.(454-456)Gac>Cac									122	111	115					17																	15554470		2203	4300	6503	SO:0001583	missense	10626							g.chr17:15554470C>G	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.454G>C	17.37:g.15554470C>G	ENSP00000463188:p.Asp152His					TRIM16_ENST00000336708.7_Missense_Mutation_p.D152H|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.D152H|TRIM16_ENST00000581224.1_Intron	p.D152H							1	497	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.454G>C	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.92|16.92	3.256151|3.256151	0.59321|0.59321	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708|ENST00000455584	T|.	0.46451|.	0.87|.	5.54|5.54	4.55|4.55	0.56014|0.56014	Zinc finger, B-box (3);|.	0.213009|.	0.38436|.	U|.	0.001688|.	T|T	0.32585|0.32585	0.0834|0.0834	N|N	0.16833|0.16833	0.445|0.445	0.25226|0.25226	N|N	0.989868|0.989868	P;P|.	0.47545|.	0.897;0.794|.	P;P|.	0.57548|.	0.823;0.478|.	T|T	0.20207|0.20207	-1.0282|-1.0282	10|5	0.39692|.	T|.	0.17|.	.|.	14.0731|14.0731	0.64872|0.64872	0.0:0.8478:0.1522:0.0|0.0:0.8478:0.1522:0.0	.|.	152;166|.	O95361;Q59EB2|.	TRI16_HUMAN;.|.	H|S	152|166	ENSP00000338989:D152H|.	ENSP00000338989:D152H|.	D|R	-|-	1|3	0|2	TRIM16|RP11-385D13.1	15495195|15495195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.465000|1.465000	0.35299|0.35299	1.309000|1.309000	0.44985|0.44985	0.563000|0.563000	0.77884|0.77884	GAC|AGG		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		3	38	0	0	0	1	0	3	38					G	15554470	C	G	15554470	3	3	106	1	0	0	0	0	1	0	0	0	16488	855	30	5	1264	5	TRIM16	17	15554470	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		15554470	65640740	24	1946										
FLII	2314	broad.mit.edu	37	chr17	18161946	18161946	+	Frame_Shift_Del	DEL	A	A	-													0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	gcccggcccggctcaccttgAagtcgttgccgctgaggtcc							TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:18161946delA	ENST00000327031.4	-	1	284	c.59delT	c.(58-60)ttcfs	p.F20fs	MIEF2_ENST00000395706.2_5'Flank|MIEF2_ENST00000578174.1_5'Flank|MIEF2_ENST00000578621.1_5'Flank|FLII_ENST00000578558.1_Frame_Shift_Del_p.F20fs|FLII_ENST00000379450.4_5'UTR|MIEF2_ENST00000395704.4_5'Flank|FLII_ENST00000579294.1_5'Flank|MIEF2_ENST00000323019.4_5'Flank|MIEF2_ENST00000395703.4_5'Flank|FLII_ENST00000545457.2_Frame_Shift_Del_p.F20fs|FLII_ENST00000584444.1_5'UTR	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	20	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCTCACCTTGAAGTCGTTGCC	0.761																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(58-60)tcfs		flightless I homolog (Drosophila)							5	5	5					17																	18161946		1829	3767	5596	SO:0001589	frameshift_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18161946delA	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.59delT	17.37:g.18161946delA	ENSP00000324573:p.Phe20fs					FLII_ENST00000545457.2_Frame_Shift_Del_p.F20fs|FLII_ENST00000379450.4_5'UTR|FLII_ENST00000578558.1_Frame_Shift_Del_p.F20fs|FLII_ENST00000584444.1_5'UTR	p.F20fs	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			1	284	-	all_neural(463;0.228)		20			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Frame_Shift_Del	DEL	ENST00000327031.4	37	c.59delT	CCDS11192.1																																																																																				0.761	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		2	4						2	4	---	---	---	---	-	18161946	A	-	18161946	7	5	106	1	0	1	0	1	0	0	0	0	5925	246	9	0	3870	0	FLII	17	18161946	Frame_Shift_Del	DEL	A	TCGA-SA-A6C2-01A-11D-A35I-08	2607476	18161946	63033264	25	1947										
USP32	84669	broad.mit.edu	37	chr17	58303433	58303433	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ttctgaggcttcagatgcagTagaaatgttgtctgaaaatt	10	5	3	4			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:58303433T>C	ENST00000300896.4	-	13	1593	c.1399A>G	c.(1399-1401)Act>Gct	p.T467A	USP32_ENST00000592339.1_Missense_Mutation_p.T137A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	467	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGATGCAGTAGAAATGTTG	0.433																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1399-1401)Act>Gct		ubiquitin specific peptidase 32							119	118	118					17																	58303433		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58303433T>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1399A>G	17.37:g.58303433T>C	ENSP00000300896:p.Thr467Ala					USP32_ENST00000592339.1_Missense_Mutation_p.T137A	p.T467A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		13	1593	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		467			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1399A>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435621	0.43224	.	.	ENSG00000170832	ENST00000300896	T	0.42900	0.96	5.17	-0.303	0.12792	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.368487	0.32719	N	0.005728	T	0.23014	0.0556	N	0.22421	0.69	0.80722	D	1	B	0.15141	0.012	B	0.18263	0.021	T	0.16070	-1.0415	10	0.08179	T	0.78	.	11.1001	0.48168	0.6424:0.0:0.0:0.3576	.	467	Q8NFA0	UBP32_HUMAN	A	467	ENSP00000300896:T467A	ENSP00000300896:T467A	T	-	1	0	USP32	55658215	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.178000	0.31981	-0.058000	0.13177	-0.516000	0.04426	ACT		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		32	54	0	0	0	1	0	32	54					C	58303433	T	C	58303433	3	2	106	1	0	0	0	0	1	0	0	0	17060	1638	57	4	3503	4	USP32	17	58303433	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	40141487	58303433	22891777	26	1948										
FBF1	85302	broad.mit.edu	37	chr17	73914285	73914285	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tggccgcatcgacctctcggTccttcagcagctttagccgc	10	16	2	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:73914285T>G	ENST00000586717.1	-	20	2435	c.2162A>C	c.(2161-2163)gAc>gCc	p.D721A	FBF1_ENST00000389570.4_Missense_Mutation_p.D721A|FBF1_ENST00000319129.5_Missense_Mutation_p.D720A			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	721					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GACCTCTCGGTCCTTCAGCAG	0.672																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2161-2163)gAc>gCc		Fas (TNFRSF6) binding factor 1							29	38	35					17																	73914285		2112	4231	6343	SO:0001583	missense	85302							g.chr17:73914285T>G	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2162A>C	17.37:g.73914285T>G	ENSP00000465132:p.Asp721Ala					FBF1_ENST00000389570.4_Missense_Mutation_p.D721A|FBF1_ENST00000319129.5_Missense_Mutation_p.D720A	p.D721A			A6NLR5	A6NLR5_HUMAN			20	2435	-			720					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2162A>C		.	.	.	.	.	.	.	.	.	.	T	23.9	4.474916	0.84640	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.20463	2.07;2.07	5.19	5.19	0.71726	.	.	.	.	.	T	0.43299	0.1241	M	0.71581	2.175	0.46376	D	0.999018	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.91;0.973;0.998	T	0.28427	-1.0044	9	0.40728	T	0.16	-26.2472	11.4003	0.49866	0.0:0.0:0.1513:0.8487	.	735;721;720	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	A	721;721;720;734	ENSP00000374221:D721A;ENSP00000324292:D720A	ENSP00000324292:D720A	D	-	2	0	FBF1	71425880	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.806000	0.55583	1.954000	0.56735	0.460000	0.39030	GAC		0.672	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		3	10	0	0	0	1	0	3	10					G	73914285	T	G	73914285	3	3	106	1	0	0	0	0	1	0	0	0	5695	1667	58	5	1282	5	FBF1	17	73914285	Missense_Mutation	SNP	T	TCGA-SA-A6C2-01A-11D-A35I-08	15610852	73914285	7280925	27	1949										
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74621461	74621461	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	caggacgctggtacagccggAttatcccttcatcgtgtagc	11	12	1	0			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr17:74621461A>G	ENST00000156626.7	-	9	1953	c.1754T>C	c.(1753-1755)aTc>aCc	p.I585T	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	585					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTACAGCCGGATTATCCCTTC	0.537																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1753-1755)aTc>aCc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							67	54	58					17																	74621461		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621461A>G	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1754T>C	17.37:g.74621461A>G	ENSP00000156626:p.Ile585Thr						p.I585T	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			9	1953	-			585					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1754T>C	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883291	0.51908	.	.	ENSG00000070526	ENST00000156626	T	0.35605	1.3	5.07	5.07	0.68467	.	0.215485	0.40728	N	0.001028	T	0.61085	0.2319	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.66933	-0.5798	10	0.87932	D	0	-31.4875	15.1407	0.72609	1.0:0.0:0.0:0.0	.	585	Q9NSC7	SIA7A_HUMAN	T	585	ENSP00000156626:I585T	ENSP00000156626:I585T	I	-	2	0	ST6GALNAC1	72133056	1.000000	0.71417	0.516000	0.27786	0.048000	0.14542	6.577000	0.74027	2.042000	0.60477	0.533000	0.62120	ATC		0.537	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		15	18	0	0	0	1	0	15	18					G	74621461	A	G	74621461	3	3	106	1	0	0	0	0	1	0	0	0	15222	333	12	4	52	4	ST6GALNAC1	17	74621461	Missense_Mutation	SNP	A	TCGA-SA-A6C2-01A-11D-A35I-08	707176	74621461	6573749	28	1950										
OR7G2	390882	broad.mit.edu	37	chr19	9213131	9213131	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ttcctaggtgagtcagtaacCacagaactaatgtacacccc	7	12	1	2	rs547475191		TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr19:9213131C>T	ENST00000305456.2	-	1	851	c.852G>A	c.(850-852)gtG>gtA	p.V284V		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTCAGTAACCACAGAACTAA	0.468													-|||	1	0.000199681	0	0	5008	,	,		20366	0		0	False		,,,				2504	0.001				Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(850-852)gtG>gtA		olfactory receptor, family 7, subfamily G, member 2							115	102	106					19																	9213131		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213131C>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.852G>A	19.37:g.9213131C>T							p.V284V	NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN			1	851	-			263					Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.852G>A	CCDS32897.1																																																																																				0.468	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			3	45	0	0	0	1	0	3	45					T	9213131	C	T	9213131	2	4	106	1	0	0	0	0	0	0	0	1	11223	581	21	3		3	OR7G2	19	9213131	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		9213131	49915852	29	1951										
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146605	3146605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ggccgccccatagatgacgaCgacccactcttgctggaggc	12	15	1	2			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr20:3146605C>T	ENST00000329152.3	-	2	2258	c.861G>A	c.(859-861)tcG>tcA	p.S287S	LZTS3_ENST00000360342.3_Silent_p.S287S|LZTS3_ENST00000337576.5_Silent_p.S287S			O60299	LZTS3_HUMAN		287	Poly-Ser.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TAGATGACGACGACCCACTCT	0.692																																						ENST00000329152.3																			0											c.(859-861)tcG>tcA									30	30	30					20																	3146605		2190	4281	6471	SO:0001819	synonymous_variant	9762							g.chr20:3146605C>T																												ENST00000329152.3:c.861G>A	20.37:g.3146605C>T						LZTS3_ENST00000360342.3_Silent_p.S287S|LZTS3_ENST00000337576.5_Silent_p.S287S	p.S287S	NM_014731.2	NP_055546.1					2	2258	-								A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	c.861G>A	CCDS13049.1																																																																																				0.692	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			12	32	0	0	0	1	0	12	32					T	3146605	C	T	3146605	2	4	106	1	0	0	0	0	0	0	0	1	12870	523	19	1		1	ProSAPiP1	20	3146605	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		3146605	59878915	30	1952										
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978220	45978220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	ggaagccccagagcagacggGcacacagcagatgggcttgc	15	12	0	3			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr21:45978220G>A	ENST00000391620.1	-	1	423	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GAgcagacgggcacacagcag	0.657																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(379-381)Ccc>Tcc		keratin associated protein 10-3							163	163	163					21																	45978220		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978220G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"Keratin associated proteins"	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.379C>T	21.37:g.45978220G>A	ENSP00000375478:p.Pro127Ser					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P127S	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	423	-			127			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.379C>T	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	4.656	0.121921	0.08931	.	.	ENSG00000212935	ENST00000391620	T	0.01279	5.06	3.53	2.63	0.31362	.	.	.	.	.	T	0.03783	0.0107	L	0.58510	1.815	0.09310	N	0.999994	P	0.47484	0.896	P	0.53988	0.739	T	0.40739	-0.9547	9	0.39692	T	0.17	.	8.549	0.33440	0.121:0.0:0.879:0.0	.	127	P60369	KR103_HUMAN	S	127	ENSP00000375478:P127S	ENSP00000375478:P127S	P	-	1	0	KRTAP10-3	44802648	0.759000	0.28416	0.128000	0.21923	0.207000	0.24258	1.736000	0.38187	1.964000	0.57103	0.561000	0.74099	CCC		0.657	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			4	174	0	0	0	1	0	4	174					A	45978220	G	A	45978220	3	1	106	1	0	0	0	0	1	0	0	0	8510	1203	42	3	290	3	KRTAP10-3	21	45978220	Missense_Mutation	SNP	G	TCGA-SA-A6C2-01A-11D-A35I-08		45978220	2151675	31	1953										
ELFN2	114794	broad.mit.edu	37	chr22	37769955	37769955	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	atctggttgaccttgtccacCtccttggcaatggtggagat	11	10	1	2			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chr22:37769955C>G	ENST00000402918.2	-	3	2405	c.1620G>C	c.(1618-1620)gaG>gaC	p.E540D	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	540					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCTTGTCCACCTCCTTGGCAA	0.642																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1618-1620)gaG>gaC		extracellular leucine-rich repeat and fibronectin type III domain containing 2							96	91	93					22																	37769955		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769955C>G	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1620G>C	22.37:g.37769955C>G	ENSP00000385277:p.Glu540Asp					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E540D	p.E540D	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2405	-	Melanoma(58;0.0574)		540					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1620G>C	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872802	0.51695	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.34859	1.34;1.34	4.79	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	M	0.74647	2.275	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.60229	-0.7304	10	0.87932	D	0	-32.2706	10.6204	0.45476	0.0:0.8413:0.0:0.1587	.	540	Q5R3F8	PPR29_HUMAN	D	540	ENSP00000300147:E540D;ENSP00000385277:E540D	ENSP00000300147:E540D	E	-	3	2	ELFN2	36099901	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.599000	0.36751	0.971000	0.38288	0.511000	0.50034	GAG		0.642	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		6	76	0	0	0	1	0	6	76					G	37769955	C	G	37769955	3	3	106	1	0	0	0	0	1	0	0	0	5058	680	24	5	846	5	ELFN2	22	37769955	Missense_Mutation	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		37769955	13534611	32	1954										
SSX5	6758	broad.mit.edu	37	chrX	48049618	48049618	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0303030303030303	1	1	0.529109589041096	0	0.651211801896733	1	1	0	tttagttttcctgaggggcgCagctgtttcccattgttctg	11	9	1	1			TCGA-SA-A6C2-01A-11D-A35I-08	TCGA-SA-A6C2-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3ca65fd-7d56-476d-86c9-8a7d2eab5435	4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c	g.chrX:48049618C>A	ENST00000376923.1	-	5	416	c.417G>T	c.(415-417)ctG>ctT	p.L139L	SSX5_ENST00000311798.1_Silent_p.L180L|SSX5_ENST00000347757.1_Silent_p.L139L			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGAGGGGCGCAGCTGTTTCC	0.463																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(538-540)ctG>ctT		synovial sarcoma, X breakpoint 5							160	141	147					X																	48049618		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48049618C>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.417G>T	X.37:g.48049618C>A						SSX5_ENST00000347757.1_Silent_p.L139L|SSX5_ENST00000376923.1_Silent_p.L139L	p.L180L	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			7	592	-			139					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.540G>T	CCDS14289.1																																																																																				0.463	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		7	146	1	0	0.0293803	1	0.0293803	7	146					A	48049618	C	A	48049618	2	1	106	1	0	0	0	0	0	0	0	1	15207	697	25	5		5	SSX5	23	48049618	Silent	SNP	C	TCGA-SA-A6C2-01A-11D-A35I-08		48049618	107220942	33	1955										
MIB2	142678	broad.mit.edu	37	chr1	1564560	1564560	+	Frame_Shift_Del	DEL	G	G	-													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	gcggagctgacggtgggcgcGgcggtcgcctgcttcctggc							TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:1564560delG	ENST00000357210.4	+	17	2640	c.2424delG	c.(2422-2424)gcgfs	p.A809fs	MIB2_ENST00000355826.5_Frame_Shift_Del_p.A852fs|MIB2_ENST00000505820.2_Frame_Shift_Del_p.A866fs|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000378712.1_Frame_Shift_Del_p.A686fs|MIB2_ENST00000520777.1_Frame_Shift_Del_p.A862fs|MIB2_ENST00000504599.1_Frame_Shift_Del_p.A765fs|MIB2_ENST00000378708.1_Frame_Shift_Del_p.A715fs|MMP23B_ENST00000378675.3_5'Flank|MIB2_ENST00000360522.4_Frame_Shift_Del_p.A774fs|MIB2_ENST00000518681.1_Frame_Shift_Del_p.A801fs|MIB2_ENST00000378710.3_Frame_Shift_Del_p.A773fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	809					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGTGGGCGCGGCGGTCGCCT	0.776																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2422-2424)gcfs		mindbomb E3 ubiquitin protein ligase 2							2	3	2					1																	1564560		1050	2733	3783	SO:0001589	frameshift_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1564560delG	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2424delG	1.37:g.1564560delG	ENSP00000349741:p.Ala809fs					MIB2_ENST00000360522.4_Frame_Shift_Del_p.A774fs|MIB2_ENST00000505820.2_Frame_Shift_Del_p.A866fs|MIB2_ENST00000355826.5_Frame_Shift_Del_p.A852fs|MIB2_ENST00000504599.1_Frame_Shift_Del_p.A765fs|MIB2_ENST00000518681.1_Frame_Shift_Del_p.A801fs|MIB2_ENST00000378710.3_Frame_Shift_Del_p.A773fs|MIB2_ENST00000378708.1_Frame_Shift_Del_p.A715fs|MIB2_ENST00000520777.1_Frame_Shift_Del_p.A862fs|MIB2_ENST00000378712.1_Frame_Shift_Del_p.A686fs	p.A809fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	17	2640	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	809					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Frame_Shift_Del	DEL	ENST00000357210.4	37	c.2424delG																																																																																					0.776	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		2	4						2	4	---	---	---	---	-	1564560	G	-	1564560	7	5	107	1	0	1	0	1	0	0	0	0	9567	1103	39	0	2661	0	MIB2	1	1564560	Frame_Shift_Del	DEL	G	TCGA-SP-A6QC-01A-11D-A35I-08		1564560	247686061	1	1956										
LCE1E	353135	broad.mit.edu	37	chr1	152759824	152759824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	gccagccccctcccaagtgcActcccaagtgccctcccaag	7	21	0	0			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:152759824A>C	ENST00000368770.3	+	2	102	c.49A>C	c.(49-51)Act>Cct	p.T17P	LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	17	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccaagtgcactcccaagtg	0.602																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(49-51)Act>Cct		late cornified envelope 1E							102	108	106					1																	152759824		2203	4300	6503	SO:0001583	missense	353135				keratinization			g.chr1:152759824A>C	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.49A>C	1.37:g.152759824A>C	ENSP00000357759:p.Thr17Pro					LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P	p.T17P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	102	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		17			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.49A>C	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	A	9.288	1.049982	0.19827	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.03689	3.84;3.84	3.38	-3.26	0.05064	.	.	.	.	.	T	0.00440	0.0014	N	0.00991	-1.07	0.20638	N	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.48525	-0.9028	9	0.87932	D	0	.	6.8416	0.23965	0.2511:0.625:0.1239:0.0	.	17	Q5T753	LCE1E_HUMAN	P	17	ENSP00000357760:T17P;ENSP00000357759:T17P	ENSP00000357759:T17P	T	+	1	0	LCE1E	151026448	0.000000	0.05858	0.876000	0.34364	0.922000	0.55478	-1.901000	0.01597	-0.276000	0.09206	0.421000	0.28195	ACT		0.602	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		75	103	0	0	0	1	0	75	103					C	152759824	A	C	152759824	3	2	107	1	0	0	0	0	1	0	0	0	8663	159	6	5	51	5	LCE1E	1	152759824	Missense_Mutation	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08	151195264	152759824	96490797	2	1957										
C1orf27	54953	broad.mit.edu	37	chr1	186363120	186363121	+	Frame_Shift_Del	DEL	TT	TT	-													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	actcaagcaactagtcattcTtttgatgtcagagtgctaac							TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:186363120_186363121delTT	ENST00000287859.6	+	9	878_879	c.753_754delTT	c.(751-756)tcttttfs	p.F252fs	C1orf27_ENST00000419367.3_Frame_Shift_Del_p.F220fs|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	252						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CTAGTCATTCTTTTGATGTCAG	0.277																																						ENST00000287859.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(751-756)tcttfs		chromosome 1 open reading frame 27																																				SO:0001589	frameshift_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186363120_186363121delTT	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.753_754delTT	1.37:g.186363122_186363123delTT	ENSP00000287859:p.Phe252fs					C1orf27_ENST00000419367.3_Frame_Shift_Del_p.SF219fs|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron	p.SF251fs	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN			9	878_879	+			251		S -> C (in dbSNP:rs12084264).			B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Frame_Shift_Del	DEL	ENST00000287859.6	37	c.753_754delTT	CCDS53448.1																																																																																				0.277	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		2	4						2	4	---	---	---	---	-	186363121	TT	-	186363120	7	5	107	1	0	1	0	1	0	0	0	0	2036	1596	56	0	783	0	C1orf27	1	186363120	Frame_Shift_Del	DEL	TT	TCGA-SP-A6QC-01A-11D-A35I-08	33603296	186363120	62887501	3	1958										
SUSD4	55061	broad.mit.edu	37	chr1	223438145	223438145	+	Missense_Mutation	SNP	A	A	C													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	catagccattagaagaggctAgaggtctcaggcagcctgtg							TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:223438145A>C	ENST00000343846.3	-	4	1184	c.551T>G	c.(550-552)cTa>cGa	p.L184R	SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.L113R|SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000494793.2_Missense_Mutation_p.L184R|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGAAGAGGCTAGAGGTCTCAG	0.463																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(550-552)cTa>cGa		sushi domain containing 4							53	58	56					1																	223438145		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223438145A>C	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.551T>G	1.37:g.223438145A>C	ENSP00000344219:p.Leu184Arg					SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R|SUSD4_ENST00000478605.1_5'UTR	p.L184R			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	4	1184	-			184			Sushi 3.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.551T>G	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	A	9.807	1.182216	0.21787	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000271787;ENST00000344029	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.45	3.15	0.36227	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.37857	N	0.001918	T	0.67021	0.2849	L	0.45137	1.4	0.22918	N	0.99856	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.996;0.996;1.0	T	0.56553	-0.7960	10	0.19590	T	0.45	-6.6266	9.2511	0.37555	0.855:0.0:0.145:0.0	.	113;184;184	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	R	184;184;113;24;184;184	ENSP00000344219:L184R;ENSP00000355843:L184R;ENSP00000399288:L24R;ENSP00000339926:L184R	ENSP00000271787:L184R	L	-	2	0	SUSD4	221504768	0.224000	0.23674	0.008000	0.14137	0.169000	0.22640	4.237000	0.58681	0.511000	0.28236	0.482000	0.46254	CTA		0.463	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		31	44	0	0	0	1	0	31	44					C	223438145	A	C	223438145	3	2	107	1	0	0	0	0	1	0	0	0	15407	420	15	5	1094	5	SUSD4	1	223438145	Missense_Mutation	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08	37075025	223438145	25812476	4	1959	15	2								
SUSD4	55061	broad.mit.edu	37	chr1	223438146	223438146	+	Missense_Mutation	SNP	G	G	T													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	atagccattagaagaggctaGaggtctcaggcagcctgtgg							TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:223438146G>T	ENST00000343846.3	-	4	1183	c.550C>A	c.(550-552)Cta>Ata	p.L184I	SUSD4_ENST00000454695.2_Missense_Mutation_p.L24I|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.L113I|SUSD4_ENST00000344029.6_Missense_Mutation_p.L184I|SUSD4_ENST00000494793.2_Missense_Mutation_p.L184I|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184I			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GAAGAGGCTAGAGGTCTCAGG	0.468																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(550-552)Cta>Ata		sushi domain containing 4							53	58	56					1																	223438146		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223438146G>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.550C>A	1.37:g.223438146G>T	ENSP00000344219:p.Leu184Ile					SUSD4_ENST00000344029.6_Missense_Mutation_p.L184I|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24I|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184I|SUSD4_ENST00000478605.1_5'UTR	p.L184I			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	4	1183	-			184			Sushi 3.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.550C>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675930	0.29783	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000271787;ENST00000344029	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.45	3.39	0.38822	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.37857	N	0.001918	T	0.73094	0.3543	M	0.63428	1.95	0.20703	N	0.999865	D;D;D	0.89917	1.0;0.99;0.999	D;D;D	0.87578	0.985;0.979;0.998	T	0.62987	-0.6737	10	0.54805	T	0.06	-6.6266	9.477	0.38878	0.2399:0.0:0.7601:0.0	.	113;184;184	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	I	184;184;113;24;184;184	ENSP00000344219:L184I;ENSP00000355843:L184I;ENSP00000399288:L24I;ENSP00000339926:L184I	ENSP00000271787:L184I	L	-	1	2	SUSD4	221504769	0.110000	0.22057	0.014000	0.15608	0.198000	0.23893	0.716000	0.25836	0.721000	0.32231	0.591000	0.81541	CTA		0.468	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		33	44	1	0	6.00712e-18	1	6.42141e-18	33	44					T	223438146	G	T	223438146	3	4	107	1	0	0	0	0	1	0	0	0	15407	933	33	5	1095	5	SUSD4	1	223438146	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08	1	223438146	25812475	5	1960	15	2								
FBXO28	23219	broad.mit.edu	37	chr1	224340859	224340859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	tttaggtgattgatgagattTatcgtgtgttgagatatgtc	12	2	0	4			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:224340859T>C	ENST00000366862.5	+	4	575	c.532T>C	c.(532-534)Tat>Cat	p.Y178H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	178										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGATGAGATTTATCGTGTGTT	0.343																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(532-534)Tat>Cat		F-box protein 28							93	100	98					1																	224340859		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224340859T>C	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.532T>C	1.37:g.224340859T>C	ENSP00000355827:p.Tyr178His					FBXO28_ENST00000424254.2_Intron	p.Y178H	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	4	575	+	Breast(184;0.206)		178					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.532T>C	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301313	0.81136	.	.	ENSG00000143756	ENST00000366862	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68945	-0.5275	9	0.52906	T	0.07	-10.5427	15.8056	0.78506	0.0:0.0:0.0:1.0	.	178	Q9NVF7	FBX28_HUMAN	H	178	.	ENSP00000355827:Y178H	Y	+	1	0	FBXO28	222407482	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.422000	0.80217	2.323000	0.78572	0.528000	0.53228	TAT		0.343	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		47	40	0	0	0	1	0	47	40					C	224340859	T	C	224340859	3	2	107	1	0	0	0	0	1	0	0	0	5738	1754	61	4	546	4	FBXO28	1	224340859	Missense_Mutation	SNP	T	TCGA-SP-A6QC-01A-11D-A35I-08	902713	224340859	24909762	6	1961										
VIT	5212	broad.mit.edu	37	chr2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	tgatcacctatgcgataggcGttgcctgggctgcccaagag	13	11	1	2	rs368417581		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:37041349G>A	ENST00000389975.3	+	15	2184	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000379242.3_Missense_Mutation_p.V643I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1927-1929)Gtt>Att		vitrin		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	115	96	102		1882,1819,1816,1927	-1.6	0	2		102	0,8600		0,0,4300	no	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	29,29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign,benign	628/679,607/658,606/657,643/694	37041349	4,13002	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37041349G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1882G>A	2.37:g.37041349G>A	ENSP00000374625:p.Val628Ile					VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I	p.V643I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			16	2229	+		all_hematologic(82;0.248)	628			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1927G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	6.727	0.502829	0.12822	9.08E-4	0.0	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.52	-1.62	0.08372	von Willebrand factor, type A (3);	0.416537	0.26677	N	0.023070	T	0.56819	0.2011	N	0.16201	0.385	0.09310	N	1	B;B;B;B	0.15141	0.008;0.002;0.008;0.012	B;B;B;B	0.12156	0.007;0.004;0.007;0.004	T	0.42649	-0.9439	10	0.25106	T	0.35	-3.4962	11.85	0.52405	0.5796:0.0:0.4204:0.0	.	607;606;628;643	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	643;628;297;580;606;607	ENSP00000368544:V643I;ENSP00000374625:V628I;ENSP00000417874:V297I;ENSP00000384154:V580I;ENSP00000368543:V606I;ENSP00000385658:V607I	ENSP00000368543:V606I	V	+	1	0	VIT	36894853	0.704000	0.27836	0.000000	0.03702	0.504000	0.33889	1.206000	0.32321	-0.198000	0.10333	0.655000	0.94253	GTT		0.512	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				11	41	0	0	0	1	0	11	41					A	37041349	G	A	37041349	3	1	107	1	0	0	0	0	1	0	0	0	17168	1145	40	1	2110	1	VIT	2	37041349	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		37041349	206158024	7	1962										
IMMT	10989	broad.mit.edu	37	chr2	86397875	86397875	+	Frame_Shift_Del	DEL	C	C	-													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	ctgtctggtttacatacactCaattttaacttgttcttgtt							TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:86397875delC	ENST00000410111.3	-	6	1039	c.652delG	c.(652-654)gagfs	p.E218fs	IMMT_ENST00000442664.2_Frame_Shift_Del_p.E217fs|IMMT_ENST00000409051.2_Frame_Shift_Del_p.E171fs|IMMT_ENST00000449247.2_Frame_Shift_Del_p.E207fs|IMMT_ENST00000254636.5_Frame_Shift_Del_p.E119fs|IMMT_ENST00000490238.1_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	218					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACATACACTCAATTTTAACT	0.423																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(652-654)agfs		inner membrane protein, mitochondrial							98	92	94					2																	86397875		1875	4111	5986	SO:0001589	frameshift_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86397875delC	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"mitofilin", "mitochondrial inner membrane organizing system 2"	600378	"inner membrane protein, mitochondrial (mitofilin)"			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.652delG	2.37:g.86397875delC	ENSP00000387262:p.Glu218fs					IMMT_ENST00000409051.2_Frame_Shift_Del_p.E171fs|IMMT_ENST00000254636.5_Frame_Shift_Del_p.E119fs|IMMT_ENST00000442664.2_Frame_Shift_Del_p.E217fs|IMMT_ENST00000449247.2_Frame_Shift_Del_p.E207fs|IMMT_ENST00000490238.1_5'UTR	p.E218fs	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			6	1039	-			218					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Frame_Shift_Del	DEL	ENST00000410111.3	37	c.652delG	CCDS46355.1																																																																																				0.423	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		2	4						2	4	---	---	---	---	-	86397875	C	-	86397875	7	5	107	1	0	1	0	1	0	0	0	0	7718	835	29	0	1664	0	IMMT	2	86397875	Frame_Shift_Del	DEL	C	TCGA-SP-A6QC-01A-11D-A35I-08	49356526	86397875	156801498	8	1963										
GAD1	2571	broad.mit.edu	37	chr2	171710489	171710489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	caaggcaattcagtgtggccGccacgtggatatcttcaagt	11	10	3	0			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:171710489G>A	ENST00000358196.3	+	14	1920	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	457					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAGTGTGGCCGCCACGTGGAT	0.488																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(1369-1371)cGc>cAc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						139	131	134					2																	171710489		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171710489G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1370G>A	2.37:g.171710489G>A	ENSP00000350928:p.Arg457His						p.R457H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			14	1920	+			457					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1370G>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476217	0.96291	.	.	ENSG00000128683	ENST00000358196	T	0.55760	0.5	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049372	0.85682	D	0.000000	D	0.82733	0.5101	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87543	0.2460	10	0.87932	D	0	-13.4342	20.0706	0.97721	0.0:0.0:1.0:0.0	.	457	Q99259	DCE1_HUMAN	H	457	ENSP00000350928:R457H	ENSP00000350928:R457H	R	+	2	0	GAD1	171418735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	CGC		0.488	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			3	35	0	0	0	1	0	3	35					A	171710489	G	A	171710489	3	1	107	1	0	0	0	0	1	0	0	0	6179	1087	38	1	1461	1	GAD1	2	171710489	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08	85312614	171710489	71488884	9	1964										
SCARB2	950	broad.mit.edu	37	chr4	77100808	77100808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	tgctgataggctttcaacatGgcctcgatgatctccctgag	10	11	2	3			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr4:77100808G>A	ENST00000264896.2	-	4	823	c.474C>T	c.(472-474)gcC>gcT	p.A158A	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	158	Important for interaction with GBA.				cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTTCAACATGGCCTCGATGA	0.488											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(472-474)gcC>gcT		scavenger receptor class B, member 2							216	203	207					4																	77100808		2203	4300	6503	SO:0001819	synonymous_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77100808G>A	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.474C>T	4.37:g.77100808G>A			OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	SCARB2_ENST00000452464.2_Intron	p.A158A	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		4	823	-			158					B4DKD8|E7EM68|Q53Y63	Silent	SNP	ENST00000264896.2	37	c.474C>T	CCDS3577.1																																																																																				0.488	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		4	218	0	0	0	1	0	4	218					A	77100808	G	A	77100808	2	1	107	1	0	0	0	0	0	0	0	1	13882	1335	47	3		3	SCARB2	4	77100808	Silent	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		77100808	114053468	10	1965										
PDZD2	23037	broad.mit.edu	37	chr5	32058106	32058106	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	ccgaacttcaataccagtggGggagcctcagcgggaggttc	14	11	2	0	rs375565833		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr5:32058106G>C	ENST00000438447.1	+	12	2485	c.2097G>C	c.(2095-2097)ggG>ggC	p.G699G	PDZD2_ENST00000282493.3_Silent_p.G699G			O15018	PDZD2_HUMAN	PDZ domain containing 2	699					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATACCAGTGGGGGAGCCTCAG	0.572																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2095-2097)ggG>ggC		PDZ domain containing 2							44	41	42					5																	32058106		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32058106G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2097G>C	5.37:g.32058106G>C						PDZD2_ENST00000282493.3_Silent_p.G699G	p.G699G			O15018	PDZD2_HUMAN			12	2485	+			699					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.2097G>C	CCDS34137.1																																																																																				0.572	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	28	0	0	0	1	0	9	28					C	32058106	G	C	32058106	2	2	107	1	0	0	0	0	0	0	0	1	11701	1219	43	5		5	PDZD2	5	32058106	Silent	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		32058106	148857154	11	1966										
SCRIB	23513	broad.mit.edu	37	chr8	144874553	144874554	+	Frame_Shift_Ins	INS	-	-	C													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	ggggcgccacctcccaggggINStgggggggacgccgggctct					rs6991873	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr8:144874553_144874554insC	ENST00000320476.3	-	32	4356_4357	c.4350_4351insG	c.(4348-4353)ccacccfs	p.P1451fs	RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.P1370fs|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Frame_Shift_Ins_p.P1451fs|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1451					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGGGGTGGGGGGGACG	0.752																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(4348-4353)ccccctfs		scribbled planar cell polarity protein																																				SO:0001589	frameshift_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874553_144874554insC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4350_4351insG	8.37:g.144874553_144874554insC	ENSP00000322938:p.Pro1451fs					SCRIB_ENST00000320476.3_Frame_Shift_Ins_p.PP1450fs|SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.PP1369fs	p.PP1450fs	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		32	4356_4357	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1450					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Frame_Shift_Ins	INS	ENST00000320476.3	37	c.4350_4351insG	CCDS6411.1																																																																																				0.752	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		2	4						2	4	---	---	---	---	C	144874554	-	C	144874553	7	5	107	1	0	1	1	0	0	0	0	0	13937	1261	44	0	640	0	SCRIB	8	144874553	Frame_Shift_Ins	INS	-	TCGA-SP-A6QC-01A-11D-A35I-08		144874553	1489469	12	1967										
GLE1	2733	broad.mit.edu	37	chr9	131285068	131285068	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	gaagcagcataaagaattccAggacttgcgggaagtaatgg	13	6	0	1			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr9:131285068A>T	ENST00000309971.4	+	4	660	c.554A>T	c.(553-555)cAg>cTg	p.Q185L	GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L|GLE1_ENST00000539582.1_Intron	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	185					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AAAGAATTCCAGGACTTGCGG	0.473																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(553-555)cAg>cTg		GLE1 RNA export mediator							106	86	93					9																	131285068		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131285068A>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.554A>T	9.37:g.131285068A>T	ENSP00000308622:p.Gln185Leu					GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L|GLE1_ENST00000539582.1_Intron	p.Q185L	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			4	660	+			185					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.554A>T	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992858	0.74703	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.68331	-0.32;0.09	5.91	4.75	0.60458	.	0.267157	0.44902	D	0.000406	T	0.71500	0.3347	L	0.61218	1.895	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.53861	0.548;0.736	T	0.70633	-0.4818	10	0.42905	T	0.14	-10.0789	10.2487	0.43356	0.9245:0.0:0.0755:0.0	.	185;185	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	L	185	ENSP00000308622:Q185L;ENSP00000361856:Q185L	ENSP00000308622:Q185L	Q	+	2	0	GLE1	130324889	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.599000	0.61076	1.031000	0.39867	0.529000	0.55759	CAG		0.473	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		3	46	0	0	0	1	0	3	46					T	131285068	A	T	131285068	3	4	107	1	0	0	0	0	1	0	0	0	6435	188	7	5	568	5	GLE1	9	131285068	Missense_Mutation	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08		131285068	9928363	13	1968										
IPO8	10526	broad.mit.edu	37	chr12	30792609	30792609	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	aagacacatagtacgaagctCactagttttgacccctcgag	8	11	1	2			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr12:30792609C>T	ENST00000256079.4	-	21	2667	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	IPO8_ENST00000544829.1_Missense_Mutation_p.E572K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	777					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTACGAAGCTCACTAGTTTTG	0.438																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2329-2331)Gag>Aag		importin 8							157	146	150					12																	30792609		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30792609C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2329G>A	12.37:g.30792609C>T	ENSP00000256079:p.Glu777Lys					IPO8_ENST00000544829.1_Missense_Mutation_p.E572K	p.E777K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			21	2667	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		777					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.2329G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603220	0.96614	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.67171	-0.25;-0.25	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.989;0.983	T	0.81527	-0.0892	10	0.30078	T	0.28	-17.7455	18.8707	0.92313	0.0:1.0:0.0:0.0	.	572;253;777	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	K	777;253;572	ENSP00000256079:E777K;ENSP00000444520:E572K	ENSP00000256079:E777K	E	-	1	0	IPO8	30683876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.532000	0.81985	2.471000	0.83476	0.563000	0.77884	GAG		0.438	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		19	90	0	0	0	1	0	19	90					T	30792609	C	T	30792609	3	4	107	1	0	0	0	0	1	0	0	0	7798	835	29	3	804	3	IPO8	12	30792609	Missense_Mutation	SNP	C	TCGA-SP-A6QC-01A-11D-A35I-08		30792609	103059286	14	1969										
DNAH2	146754	broad.mit.edu	37	chr17	7683487	7683487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	ttttccaggctatgctggccGcacagagcttcccgaaaatc	9	13	0	1	rs147216751		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:7683487G>A	ENST00000572933.1	+	37	7195	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1912	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGCTGGCCGCACAGAGCTT	0.463																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5734-5736)cGc>cAc		dynein, axonemal, heavy chain 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	214	204	207		5735	5.3	1	17	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1912/4428	7683487	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7683487G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5735G>A	17.37:g.7683487G>A	ENSP00000458355:p.Arg1912His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H	p.R1912H			Q9P225	DYH2_HUMAN			37	7195	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1912			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5735G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313707	0.95655	2.27E-4	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.15017	2.46	5.35	5.35	0.76521	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71461	-0.4586	10	0.87932	D	0	.	17.9933	0.89175	0.0:0.0:1.0:0.0	.	1912	Q9P225	DYH2_HUMAN	H	1912	ENSP00000373825:R1912H	ENSP00000353818:R1912H	R	+	2	0	DNAH2	7624212	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.590000	0.82653	2.785000	0.95823	0.655000	0.94253	CGC		0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	205	0	0	0	1	0	4	205					A	7683487	G	A	7683487	3	1	107	1	0	0	0	0	1	0	0	0	4602	1087	38	1	5877	1	DNAH2	17	7683487	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		7683487	73511723	15	1970										
ZNF286B	729288	broad.mit.edu	37	chr17	18565373	18565373	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	tgagttctctgatgttgaatAagagctgatgaatgaatgaa	11	3	1	8			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1444-1446)ctT>ctC		zinc finger protein 286B							164	151	155					17																	18565373		692	1591	2283	SO:0001819	synonymous_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565373A>G		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1446T>C	17.37:g.18565373A>G							p.L482L	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1696	-			482						Silent	SNP	ENST00000545289.1	37	c.1446T>C	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		3	58	0	0	0	1	0	3	58					G	18565373	A	G	18565373	2	3	107	1	0	0	0	0	0	0	0	1	17821	349	13	4		4	ZNF286B	17	18565373	Silent	SNP	A	TCGA-SP-A6QC-01A-11D-A35I-08	10881886	18565373	62629837	16	1971										
PCYT2	5833	broad.mit.edu	37	chr17	79862805	79862805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	gcttccttcttctggtttcgCgcctcatactccaacctgag	7	15	3	1	rs200834115	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:79862805C>T	ENST00000538936.2	-	13	1182	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PCYT2_ENST00000571105.1_Silent_p.A336A|PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000570391.1_Silent_p.A326A|PCYT2_ENST00000570388.1_Silent_p.A280A	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	358					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	TCTGGTTTCGCGCCTCATACT	0.647													C|||	2	0.000399361	0.0015	0	5008	,	,		17500	0		0	False		,,,				2504	0					ENST00000538936.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(1072-1074)gcG>gcA		phosphate cytidylyltransferase 2, ethanolamine		C	,	3,4397	6.2+/-15.9	0,3,2197	33	35	34		1128,1074	-9.3	0	17		34	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	PCYT2	NM_001184917.1,NM_002861.3	,	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,	376/408,358/390	79862805	3,12993	2200	4298	6498	SO:0001819	synonymous_variant	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79862805C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.1074G>A	17.37:g.79862805C>T						PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000571105.1_Silent_p.A336A|PCYT2_ENST00000570388.1_Silent_p.A280A|PCYT2_ENST00000570391.1_Silent_p.A326A	p.A358A	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		13	1182	-	all_neural(118;0.0878)|Ovarian(332;0.12)		358					B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Silent	SNP	ENST00000538936.2	37	c.1074G>A	CCDS11791.1																																																																																				0.647	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		3	29	0	0	0	1	0	3	29					T	79862805	C	T	79862805	2	4	107	1	0	0	0	0	0	0	0	1	11612	755	27	1		1	PCYT2	17	79862805	Silent	SNP	C	TCGA-SP-A6QC-01A-11D-A35I-08	61297432	79862805	1332405	17	1972										
LRRC45	201255	broad.mit.edu	37	chr17	79981565	79981565	+	Frame_Shift_Del	DEL	G	G	-													0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	gccgcctgtgcagggagagtGgggccgagccccaggaggct							TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:79981565delG	ENST00000306688.3	+	1	388	c.46delG	c.(46-48)gggfs	p.G16fs	STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000584347.1_5'Flank|STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000392359.3_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	16						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGGAGAGTGGGGCCGAGCC	0.711																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(46-48)ggfs		leucine rich repeat containing 45							5	7	6					17																	79981565		2102	4162	6264	SO:0001589	frameshift_variant	201255					centrosome		g.chr17:79981565delG	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.46delG	17.37:g.79981565delG	ENSP00000306760:p.Gly16fs					LRRC45_ENST00000583383.1_3'UTR	p.G16fs	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		1	388	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		16						Frame_Shift_Del	DEL	ENST00000306688.3	37	c.46delG	CCDS11797.1																																																																																				0.711	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		2	4						2	4	---	---	---	---	-	79981565	G	-	79981565	7	5	107	1	0	1	0	1	0	0	0	0	9002	1348	47	0	48	0	LRRC45	17	79981565	Frame_Shift_Del	DEL	G	TCGA-SP-A6QC-01A-11D-A35I-08	118760	79981565	1213645	18	1973										
MCM8	84515	broad.mit.edu	37	chr20	5933129	5933129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0555555555555556	1	1	0.913533834586466	0	1.06578947368421	1	1	0	agtcaatgcagtcaacattgGatcgattcataccatataaa	6	8	3	0			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr20:5933129G>T	ENST00000378896.3	+	3	585	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	TRMT6_ENST00000203001.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y|MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y|MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y|TRMT6_ENST00000453074.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	70					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GTCAACATTGGATCGATTCAT	0.338																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(208-210)Gat>Tat		minichromosome maintenance complex component 8							106	121	116					20																	5933129		2203	4299	6502	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5933129G>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.208G>T	20.37:g.5933129G>T	ENSP00000368174:p.Asp70Tyr					MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y|MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y|MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y	p.D70Y	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			3	585	+			70					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.208G>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042269	0.75732	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.68317	2.08	0.80722	D	1	D;D;P;P	0.61080	0.989;0.984;0.946;0.82	P;P;P;B	0.59643	0.861;0.73;0.771;0.39	T	0.51212	-0.8734	10	0.72032	D	0.01	-25.1445	20.6593	0.99626	0.0:0.0:1.0:0.0	.	70;70;70;70	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Y	70	ENSP00000368174:D70Y;ENSP00000368161:D70Y;ENSP00000368164:D70Y;ENSP00000265187:D70Y	ENSP00000265187:D70Y	D	+	1	0	MCM8	5881129	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	7.577000	0.82486	2.885000	0.99019	0.655000	0.94253	GAT		0.338	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	166	1	0	0.00909568	1	0.00909568	4	166					T	5933129	G	T	5933129	3	4	107	1	0	0	0	0	1	0	0	0	9393	1174	41	5	214	5	MCM8	20	5933129	Missense_Mutation	SNP	G	TCGA-SP-A6QC-01A-11D-A35I-08		5933129	57092391	19	1974										
PDPN	10630	broad.mit.edu	37	chr1	13910449	13910449	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcctccaggctgggcctgtGgccgcggtgctttttaattt	12	12	0	0			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:13910449G>C	ENST00000294489.6	+	1	490	c.149G>C	c.(148-150)tGg>tCg	p.W50S	PDPN_ENST00000487038.1_5'Flank|PDPN_ENST00000376061.4_5'Flank|PDPN_ENST00000509009.1_5'Flank|PDPN_ENST00000475043.1_5'Flank|PDPN_ENST00000376057.4_Missense_Mutation_p.W50S|PDPN_ENST00000513143.1_5'Flank					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CTGGGCCTGTGGCCGCGGTGC	0.657																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(148-150)tGg>tCg		podoplanin							21	22	21					1																	13910449		2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13910449G>C	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000294489.6:c.149G>C	1.37:g.13910449G>C	ENSP00000294489:p.Trp50Ser					PDPN_ENST00000376057.4_Missense_Mutation_p.W50S	p.W50S			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	1	490	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	0						Missense_Mutation	SNP	ENST00000294489.6	37	c.149G>C	CCDS30602.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828271	0.32329	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906	T;T;T	0.41400	1.0;1.0;1.0	4.79	3.86	0.44501	.	1.685470	0.04267	N	0.341401	T	0.37865	0.1019	N	0.08118	0	0.23962	N	0.996333	P;P	0.49635	0.926;0.926	P;P	0.52481	0.7;0.7	T	0.42916	-0.9423	10	0.87932	D	0	.	8.2749	0.31866	0.1075:0.0:0.8925:0.0	.	50;50	Q86YL7-3;Q86YL7-4	.;.	S	50;50;41	ENSP00000294489:W50S;ENSP00000365225:W50S;ENSP00000426302:W41S	ENSP00000294489:W50S	W	+	2	0	PDPN	13783036	0.000000	0.05858	0.020000	0.16555	0.143000	0.21401	0.214000	0.17541	2.347000	0.79759	0.563000	0.77884	TGG		0.657	PDPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021783.2	NM_006474		7	11	0	0	0	1	0	7	11					C	13910449	G	C	13910449	3	2	108	1	0	0	0	0	1	0	0	0	11688	1357	47	5	151	5	PDPN	1	13910449	Missense_Mutation	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08		13910449	235340172	1	1975										
TCTEX1D4	343521	broad.mit.edu	37	chr1	45272252	45272252	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	catcaatgctgggcaggcagCctcggggccgcaccggtgag							TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr1:45272252delC	ENST00000339355.2	-	1	95	c.89delG	c.(88-90)ggcfs	p.G30fs	BTBD19_ENST00000450269.1_5'Flank|TCTEX1D4_ENST00000372200.1_Frame_Shift_Del_p.G30fs|BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	30						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGGCAGGCAGCCTCGGGGCCG	0.731																																						ENST00000372200.1																			0				pancreas(1)	1						c.(88-90)gcfs		Tctex1 domain containing 4							5	5	5					1																	45272252		2131	4190	6321	SO:0001589	frameshift_variant	343521							g.chr1:45272252delC	BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"novel Tctex-1 family domain-containing protein"	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.89delG	1.37:g.45272252delC	ENSP00000341803:p.Gly30fs					TCTEX1D4_ENST00000339355.2_Frame_Shift_Del_p.G30fs	p.G30fs	NM_001013632.2	NP_001013654.1	Q5JR98	TC1D4_HUMAN			2	597	-	Acute lymphoblastic leukemia(166;0.155)		30						Frame_Shift_Del	DEL	ENST00000339355.2	37	c.89delG	CCDS30699.1																																																																																				0.731	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023733.1	NM_001013632		2	4						2	4	---	---	---	---	-	45272252	C	-	45272252	7	5	108	1	0	1	0	1	0	0	0	0	15718	739	26	0	580	0	TCTEX1D4	1	45272252	Frame_Shift_Del	DEL	C	TCGA-SP-A6QD-01A-12D-A35I-08	31361803	45272252	203978369	2	1976										
DNAH1	25981	broad.mit.edu	37	chr3	52406913	52406913	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acacagcccctcccctcaggCggaagggtgtgtttggacca	12	14	1	0			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr3:52406913C>T	ENST00000420323.2	+	44	7090	c.6829C>T	c.(6829-6831)Cgg>Tgg	p.R2277W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2277	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCCTCAGGCGGAAGGGTGT	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e44-1		dynein, axonemal, heavy chain 1							66	70	69					3																	52406913		1966	4136	6102	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52406913C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6828-1C>T	3.37:g.52406913C>T							p.R2277_splice	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	44	7090	+			2277			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37	c.6827_splice	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030110	0.75504	.	.	ENSG00000114841	ENST00000420323	T	0.44482	0.92	5.51	4.62	0.57501	.	1.561230	0.04370	N	0.358873	T	0.77011	0.4068	H	0.97962	4.115	0.58432	D	0.999997	D	0.76494	0.999	P	0.60415	0.874	T	0.66356	-0.5944	10	0.87932	D	0	.	10.4011	0.44231	0.2652:0.6054:0.1293:0.0	.	2277	C9JXH6	.	W	2277	ENSP00000401514:R2277W	ENSP00000401514:R2277W	R	+	1	2	DNAH1	52381953	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.396000	0.34531	1.304000	0.44892	0.655000	0.94253	CGG		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation	21	57	0	0	0	1	0	21	57					T	52406913	C	T	52406913	5	4	108	1	0	0	0	0	0	0	1	0	4597	782	27	1	6999	1	DNAH1	3	52406913	Splice_Site	SNP	C	TCGA-SP-A6QD-01A-12D-A35I-08		52406913	145615517	3	1977										
KIF20A	10112	broad.mit.edu	37	chr5	137518596	137518596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtgtctacatcgaaagtcGgataggtaccagcaccagct	11	10	1	0			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr5:137518596G>A	ENST00000394894.3	+	7	975	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	250	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCGAAAGTCGGATAGGTACC	0.537																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(748-750)cGg>cAg		kinesin family member 20A							80	74	76					5																	137518596		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137518596G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.749G>A	5.37:g.137518596G>A	ENSP00000378356:p.Arg250Gln					KIF20A_ENST00000508792.1_Missense_Mutation_p.R232Q	p.R250Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	975	+			250			Kinesin-motor.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.749G>A	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278155	0.40294	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70516	-0.45;-0.49	4.88	3.0	0.34707	Kinesin, motor domain (3);	0.175252	0.26824	N	0.022318	T	0.52125	0.1715	L	0.37697	1.125	0.50813	D	0.999896	P;B	0.34587	0.458;0.004	B;B	0.26770	0.073;0.012	T	0.48258	-0.9051	10	0.30078	T	0.28	-12.7674	7.2465	0.26125	0.2025:0.1334:0.6641:0.0	.	232;250	B4DL79;O95235	.;KI20A_HUMAN	Q	250;232	ENSP00000378356:R250Q;ENSP00000420880:R232Q	ENSP00000378356:R250Q	R	+	2	0	KIF20A	137546495	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.893000	0.28336	1.286000	0.44565	0.655000	0.94253	CGG		0.537	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		3	38	0	0	0	1	0	3	38					A	137518596	G	A	137518596	3	1	108	1	0	0	0	0	1	0	0	0	8286	1116	39	2	771	2	KIF20A	5	137518596	Missense_Mutation	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08		137518596	43396664	4	1978										
RGS14	10636	broad.mit.edu	37	chr5	176798390	176798390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgtgacaaatctccctgccGcagccaggtgagcgaaaggc	12	14	1	2			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr5:176798390G>A	ENST00000408923.3	+	13	1564	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	459					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCCTGCCGCAGCCAGGTG	0.607																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1375-1377)cGc>cAc		regulator of G-protein signaling 14							77	92	87					5																	176798390		2036	4189	6225	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176798390G>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1376G>A	5.37:g.176798390G>A	ENSP00000386229:p.Arg459His					RGS14_ENST00000506944.1_3'UTR	p.R459H	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1564	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	459					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.1376G>A	CCDS43405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.890070|2.890070	0.52014|0.52014	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000511890|ENST00000408923;ENST00000336477	.|T	.|0.38240	.|1.15	5.05|5.05	-7.32|-7.32	0.01436|0.01436	.|.	.|1.424160	.|0.03949	.|N	.|0.288202	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.006;0.004;0.002	.|B;B;B	.|0.06405	.|0.002;0.001;0.001	T|T	0.12372|0.12372	-1.0550|-1.0550	5|10	.|0.17369	.|T	.|0.5	-1.0E-4|-1.0E-4	2.6882|2.6882	0.05113|0.05113	0.4748:0.0934:0.2429:0.1889|0.4748:0.0934:0.2429:0.1889	.|.	.|230;307;459	.|B3KUX0;O43566-5;O43566	.|.;.;RGS14_HUMAN	T|H	330|459;240	.|ENSP00000386229:R459H	.|ENSP00000336864:R240H	A|R	+|+	1|2	0|0	RGS14|RGS14	176730996|176730996	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.652000|0.652000	0.38707|0.38707	-1.276000|-1.276000	0.02815|0.02815	-1.622000|-1.622000	0.01560|0.01560	-0.781000|-0.781000	0.03364|0.03364	GCA|CGC		0.607	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		4	64	0	0	0	1	0	4	64					A	176798390	G	A	176798390	3	1	108	1	0	0	0	0	1	0	0	0	13297	1087	38	1	1426	1	RGS14	5	176798390	Missense_Mutation	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08	39279794	176798390	4116870	5	1979										
TPBG	7162	broad.mit.edu	37	chr6	83075102	83075102	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	cgggcgccttcgagcatctgCccagcctgcgccagctcgac							TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:83075102delC	ENST00000369750.3	+	2	1041	c.424delC	c.(424-426)cccfs	p.P142fs	TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	142					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CGAGCATCTGCCCAGCCTGCG	0.736																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(424-426)ccfs		trophoblast glycoprotein							35	38	37					6																	83075102		2203	4299	6502	SO:0001589	frameshift_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83075102delC	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.424delC	6.37:g.83075102delC	ENSP00000358765:p.Pro142fs					TPBG_ENST00000543496.1_Frame_Shift_Del_p.P142fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.P142fs	p.P142fs			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1041	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	142					A8K555	Frame_Shift_Del	DEL	ENST00000369750.3	37	c.424delC	CCDS4995.1																																																																																				0.736	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			31	33						31	33	---	---	---	---	-	83075102	C	-	83075102	7	5	108	1	0	1	0	1	0	0	0	0	16391	739	26	0	426	0	TPBG	6	83075102	Frame_Shift_Del	DEL	C	TCGA-SP-A6QD-01A-12D-A35I-08		83075102	88039965	6	1980										
FIG4	9896	broad.mit.edu	37	chr6	110036319	110036319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcaataatgcagaaacgaaAtatcgtgtcttgaagattga	9	5	1	4			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr6:110036319A>G	ENST00000230124.3	+	2	229	c.105A>G	c.(103-105)aaA>aaG	p.K35K	FIG4_ENST00000368941.1_5'Flank|FIG4_ENST00000441478.2_5'UTR	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	35					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGAAACGAAATATCGTGTCT	0.323																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(103-105)aaA>aaG		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							84	85	85					6																	110036319		2203	4300	6503	SO:0001819	synonymous_variant	9896				cell death	endosome membrane	protein binding	g.chr6:110036319A>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.105A>G	6.37:g.110036319A>G						FIG4_ENST00000441478.2_5'UTR	p.K35K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	2	229	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	35					Q53H49|Q5TCS6	Silent	SNP	ENST00000230124.3	37	c.105A>G	CCDS5078.1																																																																																				0.323	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		24	31	0	0	0	1	0	24	31					G	110036319	A	G	110036319	2	3	108	1	0	0	0	0	0	0	0	1	5888	98	4	4		4	FIG4	6	110036319	Silent	SNP	A	TCGA-SP-A6QD-01A-12D-A35I-08	26961217	110036319	61078748	7	1981										
MLL3	58508	broad.mit.edu	37	chr7	151945602	151945602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttatcttcaatttgatcttcGccacaaatatgcttcacttc	3	11	4	1	rs202125566		TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr7:151945602G>A	ENST00000262189.6	-	14	2135	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	KMT2C_ENST00000355193.2_Silent_p.G639G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	639					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGATCTTCGCCACAAATAT	0.373																																						ENST00000355193.2																			0											c.(1915-1917)ggC>ggT		lysine (K)-specific methyltransferase 2C							61	58	59					7																	151945602		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945602G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1917C>T	7.37:g.151945602G>A						KMT2C_ENST00000262189.6_Silent_p.G639G	p.G639G							14	2135	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1917C>T	CCDS5931.1																																																																																				0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	68	0	0	0	1	0	4	68					A	151945602	G	A	151945602	2	1	108	1	0	0	0	0	0	0	0	1	9622	1074	38	1		1	MLL3	7	151945602	Silent	SNP	G	TCGA-SP-A6QD-01A-12D-A35I-08		151945602	7193061	8	1982										
OR8H3	390152	broad.mit.edu	37	chr11	55890333	55890333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ctcctttgtcaatgtggtttCcatgagcagattgcatttct	8	9	2	2			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr11:55890333C>T	ENST00000313472.3	+	1	485	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S162Y(1)|p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438																																						ENST00000313472.3																			2	Substitution - Missense(2)	p.S162Y(1)|p.S162F(1)	lung(1)|skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(484-486)tCc>tTc		olfactory receptor, family 8, subfamily H, member 3							238	211	221					11																	55890333		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890333C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.485C>T	11.37:g.55890333C>T	ENSP00000323928:p.Ser162Phe						p.S162F	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	485	+	Esophageal squamous(21;0.00693)		162					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.485C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.560318	0.00136	.	.	ENSG00000181761	ENST00000313472	T	0.00054	8.8	3.62	-7.21	0.01490	GPCR, rhodopsin-like superfamily (1);	0.596206	0.16347	N	0.218385	T	0.00039	0.0001	N	0.05487	-0.04	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.39583	-0.9607	10	0.08179	T	0.78	.	1.7399	0.02950	0.1303:0.2854:0.1446:0.4398	.	162	Q8N146	OR8H3_HUMAN	F	162	ENSP00000323928:S162F	ENSP00000323928:S162F	S	+	2	0	OR8H3	55646909	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.028000	0.12350	-0.801000	0.04427	-1.402000	0.01139	TCC		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		41	100	0	0	0	1	0	41	100					T	55890333	C	T	55890333	3	4	108	1	0	0	0	0	1	0	0	0	11239	855	30	3	487	3	OR8H3	11	55890333	Missense_Mutation	SNP	C	TCGA-SP-A6QD-01A-12D-A35I-08		55890333	79116183	9	1983										
KCNK7	10089	broad.mit.edu	37	chr11	65363186	65363186	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	cacagccccaagccccagggCcagcaagtgggccacaacca							TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr11:65363186delC	ENST00000340313.4	-	1	281	c.58delG	c.(58-60)gccfs	p.A20fs	KCNK7_ENST00000342202.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000394216.2_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000394217.2_Frame_Shift_Del_p.A20fs	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	20					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)			endometrium(1)|liver(1)|lung(1)	3						AGCCCCAGGGCCAGCAAGTGG	0.682																																						ENST00000394216.2																			0				endometrium(1)|liver(1)|lung(1)	3						c.(58-60)ccfs		potassium channel, subfamily K, member 7							11	15	13					11																	65363186		2183	4286	6469	SO:0001589	frameshift_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65363186delC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.58delG	11.37:g.65363186delC	ENSP00000344820:p.Ala20fs					KCNK7_ENST00000394217.2_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000342202.4_Frame_Shift_Del_p.A20fs|KCNK7_ENST00000340313.4_Frame_Shift_Del_p.A20fs	p.A20fs	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN			1	281	-			20					Q3SYI2|Q9Y2U3|Q9Y2U4	Frame_Shift_Del	DEL	ENST00000340313.4	37	c.58delG	CCDS31608.1																																																																																				0.682	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		2	4						2	4	---	---	---	---	-	65363186	C	-	65363186	7	5	108	1	0	1	0	1	0	0	0	0	8071	739	26	0	978	0	KCNK7	11	65363186	Frame_Shift_Del	DEL	C	TCGA-SP-A6QD-01A-12D-A35I-08	9472853	65363186	69643330	10	1984										
TRAFD1	10906	broad.mit.edu	37	chr12	112578648	112578648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagtgccctttgcggcttgCtgtctgccagcactgtgatt	12	11	1	2			TCGA-SP-A6QD-01A-12D-A35I-08	TCGA-SP-A6QD-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc13a3fa-5a66-4287-99d1-e5d1990c8898	7cffcf76-88ba-43cb-a4b6-718ca08a9ba0	g.chr12:112578648C>T	ENST00000257604.5	+	5	880	c.263C>T	c.(262-264)gCt>gTt	p.A88V	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	88					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTGCGGCTTGCTGTCTGCCAG	0.468																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(262-264)gCt>gTt		TRAF-type zinc finger domain containing 1							70	66	68					12																	112578648		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112578648C>T	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.263C>T	12.37:g.112578648C>T	ENSP00000257604:p.Ala88Val					TRAFD1_ENST00000412615.2_Missense_Mutation_p.A88V	p.A88V	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			5	880	+			88					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.263C>T	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565536	0.27915	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	5.7	4.81	0.61882	.	0.249292	0.42053	D	0.000772	T	0.01870	0.0059	N	0.03281	-0.365	0.41055	D	0.985335	P;P	0.40619	0.724;0.584	B;B	0.43155	0.41;0.262	T	0.53961	-0.8364	10	0.02654	T	1	-16.7071	8.3614	0.32361	0.0:0.7809:0.0:0.2191	.	88;88	F8VNX8;O14545	.;TRAD1_HUMAN	V	88	ENSP00000396526:A88V;ENSP00000449319:A88V;ENSP00000257604:A88V;ENSP00000450357:A88V	ENSP00000257604:A88V	A	+	2	0	TRAFD1	111063031	0.856000	0.29760	1.000000	0.80357	0.993000	0.82548	1.343000	0.33930	2.695000	0.91970	0.563000	0.77884	GCT		0.468	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		4	83	0	0	0	1	0	4	83					T	112578648	C	T	112578648	3	4	108	1	0	0	0	0	1	0	0	0	16444	797	28	3	277	3	TRAFD1	12	112578648	Missense_Mutation	SNP	C	TCGA-SP-A6QD-01A-12D-A35I-08		112578648	21273247	11	1985										
EPHX1	2052	broad.mit.edu	37	chr1	226026489	226026489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	tcatcccactcctgactgacCccaagaaccatggcctgagc	7	17	1	4			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr1:226026489C>G	ENST00000366837.4	+	4	695	c.499C>G	c.(499-501)Ccc>Gcc	p.P167A	EPHX1_ENST00000272167.5_Missense_Mutation_p.P167A|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	167					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCTGACTGACCCCAAGAACCA	0.572																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(499-501)Ccc>Gcc		epoxide hydrolase 1, microsomal (xenobiotic)							124	112	116					1																	226026489		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026489C>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.499C>G	1.37:g.226026489C>G	ENSP00000355802:p.Pro167Ala					EPHX1_ENST00000272167.5_Missense_Mutation_p.P167A	p.P167A	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	695	+	Breast(184;0.197)		167					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.499C>G	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344576	0.82022	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.03689	3.84;3.84	5.84	5.84	0.93424	.	0.109027	0.64402	D	0.000006	T	0.10981	0.0268	M	0.72353	2.195	0.80722	D	1	P	0.48294	0.908	P	0.46885	0.53	T	0.01225	-1.1413	9	.	.	.	-22.8053	20.1278	0.97990	0.0:1.0:0.0:0.0	.	167	P07099	HYEP_HUMAN	A	167	ENSP00000272167:P167A;ENSP00000355802:P167A	.	P	+	1	0	EPHX1	224093112	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	4.443000	0.59994	2.768000	0.95171	0.561000	0.74099	CCC		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		6	92	0	0	0	1	0	6	92					G	226026489	C	G	226026489	3	3	109	1	0	0	0	0	1	0	0	0	5179	623	22	5	509	5	EPHX1	1	226026489	Missense_Mutation	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08		226026489	23224132	1	1986										
CAPN9	10753	broad.mit.edu	37	chr1	230914848	230914848	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	cagggaagctgggttcgcggCtccacggctgggggctgccg	19	12	0	0			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr1:230914848C>G	ENST00000271971.2	+	9	1196	c.1083C>G	c.(1081-1083)ggC>ggG	p.G361G	RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Silent_p.G335G|CAPN9_ENST00000366666.2_Silent_p.G298G|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	361	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGGTTCGCGGCTCCACGGCTG	0.582																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1003-1005)ggC>ggG		calpain 9							71	65	67					1																	230914848		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230914848C>G	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1083C>G	1.37:g.230914848C>G						RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.G298G|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000271971.2_Silent_p.G361G|RP11-99J16__A.2_ENST00000452640.1_RNA	p.G335G	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			8	1087	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	361			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.1005C>G	CCDS1586.1																																																																																				0.582	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		5	24	0	0	0	1	0	5	24					G	230914848	C	G	230914848	2	3	109	1	0	0	0	0	0	0	0	1	2632	784	28	5		5	CAPN9	1	230914848	Silent	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08	4888359	230914848	18335773	2	1987										
C2orf73	129852	broad.mit.edu	37	chr2	54587376	54587376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	tacagagagagataaaaccaGgcagtaggccaacagttcct	10	9	0	2			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr2:54587376G>A	ENST00000398634.2	+	5	583	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_3'UTR	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	181										breast(2)	2						GATAAAACCAGGCAGTAGGCC	0.453																																						ENST00000398634.2																			0				breast(2)	2						c.(541-543)Ggc>Agc		chromosome 2 open reading frame 73							50	49	49					2																	54587376		1916	4130	6046	SO:0001583	missense	129852							g.chr2:54587376G>A	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.541G>A	2.37:g.54587376G>A	ENSP00000381631:p.Gly181Ser					C2orf73_ENST00000491538.1_3'UTR|C2orf73_ENST00000405749.1_Intron	p.G181S	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			5	583	+			181					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.541G>A	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959567	0.53400	.	.	ENSG00000177994	ENST00000486488;ENST00000398634;ENST00000447328	T;T;T	0.49139	0.79;0.79;0.79	5.35	2.52	0.30459	.	0.490355	0.20488	N	0.091347	T	0.39091	0.1065	L	0.39898	1.24	0.33418	D	0.579464	P;P	0.52316	0.952;0.952	P;P	0.46659	0.523;0.523	T	0.45818	-0.9235	10	0.11182	T	0.66	-33.6433	11.0889	0.48104	0.2721:0.0:0.7279:0.0	.	123;181	B7ZM12;Q8N5S3	.;CB073_HUMAN	S	187;181;123	ENSP00000417971:G187S;ENSP00000381631:G181S;ENSP00000389570:G123S	ENSP00000381631:G181S	G	+	1	0	C2orf73	54440880	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.611000	0.36879	0.740000	0.32651	0.650000	0.86243	GGC		0.453	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		3	6	0	0	0	1	0	3	6					A	54587376	G	A	54587376	3	1	109	1	0	0	0	0	1	0	0	0	2192	1000	35	3	559	3	C2orf73	2	54587376	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		54587376	188611997	3	1988										
RASSF1	11186	broad.mit.edu	37	chr3	50369084	50369084	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	agggcctcaatgacttcacgTgcccttgtgcgtgacagcac	11	13	2	2			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr3:50369084T>A	ENST00000357043.2	-	4	713	c.678A>T	c.(676-678)gcA>gcT	p.A226A	RASSF1_ENST00000395126.3_Silent_p.A71A|RASSF1_ENST00000327761.3_Silent_p.A152A|RASSF1_ENST00000359365.4_Silent_p.A222A					Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACTTCACGTGCCCTTGTGC	0.617																																						ENST00000359365.4																			0				lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5						c.(664-666)gcA>gcT		Ras association (RalGDS/AF-6) domain family member 1							85	90	88					3																	50369084		2203	4300	6503	SO:0001819	synonymous_variant	11186				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	g.chr3:50369084T>A	AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000357043.2:c.678A>T	3.37:g.50369084T>A						RASSF1_ENST00000395126.3_Silent_p.A71A|RASSF1_ENST00000357043.2_Silent_p.A226A|RASSF1_ENST00000327761.3_Silent_p.A152A	p.A222A	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	772	-			226			Ras-associating.			Silent	SNP	ENST00000357043.2	37	c.666A>T	CCDS2820.1																																																																																				0.617	RASSF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314304.1			21	50	0	0	0	1	0	21	50					A	50369084	T	A	50369084	2	1	109	1	0	0	0	0	0	0	0	1	13084	1683	59	5		5	RASSF1	3	50369084	Silent	SNP	T	TCGA-SP-A6QF-01A-12D-A35I-08		50369084	147653346	4	1989										
NRM	11270	broad.mit.edu	37	chr6	30657192	30657192	+	Frame_Shift_Del	DEL	G	G	-													0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	cccgagcctcccacaacacaGggcctttgggtatgggctcc							TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr6:30657192delG	ENST00000259953.4	-	4	719	c.368delC	c.(367-369)cctfs	p.P123fs	PPP1R18_ENST00000488324.1_5'Flank|NRM_ENST00000470733.1_5'UTR|PPP1R18_ENST00000399199.3_5'Flank|NRM_ENST00000376420.5_Intron|PPP1R18_ENST00000274853.3_5'Flank|NRM_ENST00000376421.5_Frame_Shift_Del_p.P123fs	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	123						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)				large_intestine(1)|lung(2)	3						CCACAACACAGGGCCTTTGGG	0.607																																						ENST00000259953.4																			0				large_intestine(1)|lung(2)	3						c.(367-369)ctfs		nurim (nuclear envelope membrane protein)							42	35	38					6																	30657192		2200	4294	6494	SO:0001589	frameshift_variant	11270					integral to membrane|nuclear inner membrane		g.chr6:30657192delG	AF143676	CCDS4686.1, CCDS59498.1	6p21.3	2010-02-17			ENSG00000137404	ENSG00000137404			8003	protein-coding gene	gene with protein product						10402458, 17517639	Standard	NM_007243		Approved	NRM29	uc031sng.1	Q8IXM6	OTTHUMG00000031223	ENST00000259953.4:c.368delC	6.37:g.30657192delG	ENSP00000259953:p.Pro123fs					NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Intron|NRM_ENST00000376421.5_Frame_Shift_Del_p.P123fs	p.P123fs	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN			4	719	-			123					B0S7R0|B0S7R1|I3XIE2|I3XIE3|Q5JP57|Q5JP58|Q5JP59|Q5JP60|Q8WU45|Q9BSX3|Q9UN92	Frame_Shift_Del	DEL	ENST00000259953.4	37	c.368delC	CCDS4686.1																																																																																				0.607	NRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076466.2			2	4						2	4	---	---	---	---	-	30657192	G	-	30657192	7	5	109	1	0	1	0	1	0	0	0	0	10657	1000	35	0	428	0	NRM	6	30657192	Frame_Shift_Del	DEL	G	TCGA-SP-A6QF-01A-12D-A35I-08		30657192	140457875	5	1990										
AIM1	202	broad.mit.edu	37	chr6	106975253	106975253	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	aaggagaattggaactctctGgtctctggggtatagaagac	13	6	2	3			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr6:106975253G>T	ENST00000369066.3	+	5	3749	c.3262G>T	c.(3262-3264)Ggt>Tgt	p.G1088C		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGAACTCTCTGGTCTCTGGGG	0.428																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3262-3264)Ggt>Tgt		absent in melanoma 1							210	201	204					6																	106975253		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106975253G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3262G>T	6.37:g.106975253G>T	ENSP00000358062:p.Gly1088Cys						p.G1088C	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3749	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1088			Beta/gamma crystallin 'Greek key' 2.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3262G>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083627	0.55861	.	.	ENSG00000112297	ENST00000369066	T	0.76186	-1.0	5.29	4.4	0.53042	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.561123	0.20417	N	0.092743	T	0.50446	0.1616	L	0.39633	1.23	0.80722	D	1	B	0.24258	0.1	B	0.25759	0.063	T	0.57825	-0.7744	10	0.72032	D	0.01	.	8.2117	0.31488	0.2431:0.0:0.7569:0.0	.	1088	Q9Y4K1	AIM1_HUMAN	C	1088	ENSP00000358062:G1088C	ENSP00000358062:G1088C	G	+	1	0	AIM1	107081946	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	1.782000	0.38654	1.331000	0.45412	0.650000	0.86243	GGT		0.428	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			8	102	1	0	0.000274275	1	0.000285703	8	102					T	106975253	G	T	106975253	3	4	109	1	0	0	0	0	1	0	0	0	430	1348	47	5	3280	5	AIM1	6	106975253	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	76318061	106975253	64139814	6	1991										
COPS5	10987	broad.mit.edu	37	chr8	67971510	67971510	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	cagcctgagcatttactcggGtttcagtgccctccacaggc	10	14	1	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr8:67971510G>C	ENST00000357849.4	-	2	634	c.314C>G	c.(313-315)aCc>aGc	p.T105S	COPS5_ENST00000517736.1_Missense_Mutation_p.T41S|AC109335.1_ENST00000578628.1_RNA|PPP1R42_ENST00000517834.1_5'Flank|COPS5_ENST00000519963.1_5'Flank	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	105	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.T105I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATTTACTCGGGTTTCAGTGCC	0.418																																						ENST00000517736.1																			1	Substitution - Missense(1)	p.T105I(1)	skin(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14						c.(121-123)aCc>aGc		COP9 signalosome subunit 5							150	121	131					8																	67971510		2203	4300	6503	SO:0001583	missense	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67971510G>C	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.314C>G	8.37:g.67971510G>C	ENSP00000350512:p.Thr105Ser					COPS5_ENST00000357849.4_Missense_Mutation_p.T105S	p.T41S			Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		2	683	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	105					O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.122C>G	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137002	0.94517	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	T;T;T	0.54866	0.55;0.55;0.55	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.993;0.994;0.997	T	0.83080	-0.0138	10	0.87932	D	0	-3.3713	19.7153	0.96115	0.0:0.0:1.0:0.0	.	74;41;105	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	S	105;41;41	ENSP00000350512:T105S;ENSP00000429774:T41S;ENSP00000428586:T41S	ENSP00000350512:T105S	T	-	2	0	COPS5	68134064	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.703000	0.98714	2.731000	0.93534	0.655000	0.94253	ACC		0.418	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			4	76	0	0	0	1	0	4	76					C	67971510	G	C	67971510	3	2	109	1	0	0	0	0	1	0	0	0	3736	1261	44	5	718	5	COPS5	8	67971510	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		67971510	78392512	7	1992										
COL15A1	1306	broad.mit.edu	37	chr9	101798452	101798452	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	atttttgtttatttttccagGgtctcaaaggagagaaagga	10	4	1	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr9:101798452G>A	ENST00000375001.3	+	20	2713	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	764	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATTTTTCCAGGGTCTCAAAGG	0.483																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.e20-1		collagen, type XV, alpha 1							68	88	81					9																	101798452		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101798452G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2290-1G>A	9.37:g.101798452G>A							p.G764_splice	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			20	2713	+		Acute lymphoblastic leukemia(62;0.0562)	764			Triple-helical region 3 (COL3).		Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	SNP	ENST00000375001.3	37	c.2289_splice	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413701	0.62511	.	.	ENSG00000204291	ENST00000375001	D	0.90732	-2.72	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	M	0.93420	3.415	0.45439	D	0.998417	D	0.89917	1.0	D	0.87578	0.998	D	0.97090	0.9790	9	.	.	.	-10.9844	14.9982	0.71449	0.0:0.0:1.0:0.0	.	764	P39059	COFA1_HUMAN	S	764	ENSP00000364140:G764S	.	G	+	1	0	COL15A1	100838273	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.325000	0.52030	2.676000	0.91093	0.655000	0.94253	GGT		0.483	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Missense_Mutation	3	26	0	0	0	1	0	3	26					A	101798452	G	A	101798452	5	1	109	1	0	0	0	0	0	0	1	0	3672	1246	43	3	2368	3	COL15A1	9	101798452	Splice_Site	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		101798452	39414979	8	1993										
HRAS	3265	broad.mit.edu	37	chr11	533875	533875	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	catggcgctgtactcctcctGgccggcggtatccaggatgt	13	13	0	0	rs28933406		TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		63	Substitution - Missense(63)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K	p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	368	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		20	31	1	0	3.8784e-16	1	4.21566e-16	20	31					T	533875	G	T	533875	3	4	109	1	0	0	0	0	1	0	0	0	7348	1357	47	5	467	5	HRAS	11	533875	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		533875	134472641	9	1994										
FJX1	24147	broad.mit.edu	37	chr11	35640205	35640207	+	In_Frame_Del	DEL	CGC	CGC	-													0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	atgggcaggaggatgcggggCgccgccgccaccgcggggct							TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr11:35640205_35640207delCGC	ENST00000317811.4	+	1	471_473	c.21_23delCGC	c.(19-24)ggcgcc>ggc	p.A10del		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	10					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GGATGCGGGGCGCCGCCGCCACC	0.818																																					Melanoma(161;10 2587 27165 47356)	ENST00000317811.4																			0				lung(1)|urinary_tract(1)	2						c.(19-24)ggc>gg		four jointed box 1 (Drosophila)																																				SO:0001651	inframe_deletion	24147					extracellular space		g.chr11:35640205_35640207delCGC	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"putative secreted ligand homologous to fjx1"	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.21_23delCGC	11.37:g.35640211_35640213delCGC	ENSP00000400223:p.Ala10del						p.GA7del	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN			1	471_473	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	7					B2RCA9|Q9UGK6	In_Frame_Del	DEL	ENST00000317811.4	37	c.21_23delCGC	CCDS44570.1																																																																																				0.818	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		2	4						2	4	---	---	---	---	-	35640207	CGC	-	35640205	7	5	109	1	0	1	0	1	0	0	0	0	5901	755	27	0	23	0	FJX1	11	35640205	In_Frame_Del	DEL	CGC	TCGA-SP-A6QF-01A-12D-A35I-08	35106330	35640205	99366311	10	1995										
C2CD3	26005	broad.mit.edu	37	chr11	73760452	73760452	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	agtgtatcaaactctccaaaGgggagacagcaacttttatc	8	9	2	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr11:73760452G>C	ENST00000334126.7	-	27	5517	c.5291C>G	c.(5290-5292)cCt>cGt	p.P1764R	C2CD3_ENST00000313663.7_Missense_Mutation_p.P1764R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1764					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTCTCCAAAGGGGAGACAGC	0.483																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5290-5292)cCt>cGt		C2 calcium-dependent domain containing 3							140	114	123					11																	73760452		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73760452G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5291C>G	11.37:g.73760452G>C	ENSP00000334379:p.Pro1764Arg					C2CD3_ENST00000313663.7_Missense_Mutation_p.P1764R	p.P1764R			Q4AC94	C2CD3_HUMAN			27	5517	-	Breast(11;4.16e-06)		1764					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5291C>G		.	.	.	.	.	.	.	.	.	.	G	27.7	4.852098	0.91355	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.73681	-0.77;-0.57;-0.57	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	M	0.81802	2.56	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	-12.523	19.3726	0.94495	0.0:0.0:1.0:0.0	.	1764	Q4AC94-1	.	R	1764;1764;1745;572	ENSP00000334379:P1764R;ENSP00000323339:P1764R;ENSP00000388750:P572R	ENSP00000323339:P1764R	P	-	2	0	C2CD3	73438100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.680000	0.91292	0.655000	0.94253	CCT		0.483	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		4	36	0	0	0	1	0	4	36					C	73760452	G	C	73760452	3	2	109	1	0	0	0	0	1	0	0	0	2154	1000	35	5	620	5	C2CD3	11	73760452	Missense_Mutation	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	38120247	73760452	61246064	11	1996										
ETV6	2120	broad.mit.edu	37	chr12	12022421	12022421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	gcaccataaccctcccaccaTtgaactgttgcaccgctcca	5	18	0	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr12:12022421T>C	ENST00000396373.4	+	5	801	c.527T>C	c.(526-528)aTt>aCt	p.I176T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	176					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCTCCCACCATTGAACTGTTG	0.582			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"L, E, M"	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"		"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(526-528)aTt>aCt		ets variant 6							174	180	178					12																	12022421		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022421T>C	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.527T>C	12.37:g.12022421T>C	ENSP00000379658:p.Ile176Thr						p.I176T	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			5	801	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	176					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.527T>C	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850418	0.71719	.	.	ENSG00000139083	ENST00000396373	T	0.05139	3.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	M	0.66939	2.045	0.58432	D	0.999999	P	0.35272	0.493	B	0.29942	0.109	T	0.21109	-1.0255	10	0.12103	T	0.63	.	15.074	0.72063	0.0:0.0:0.0:1.0	.	176	P41212	ETV6_HUMAN	T	176	ENSP00000379658:I176T	ENSP00000379658:I176T	I	+	2	0	ETV6	11913688	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.003000	0.76310	2.035000	0.60131	0.533000	0.62120	ATT		0.582	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		8	157	0	0	0	1	0	8	157					C	12022421	T	C	12022421	3	2	109	1	0	0	0	0	1	0	0	0	5283	1493	52	4	545	4	ETV6	12	12022421	Missense_Mutation	SNP	T	TCGA-SP-A6QF-01A-12D-A35I-08		12022421	121829474	12	1997										
COL2A1	1280	broad.mit.edu	37	chr12	48387610	48387610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	accttcacaccaggagcaccCgcctctcccttagcaccgtc	6	20	2	0			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr12:48387610C>T	ENST00000380518.3	-	14	1070	c.906G>A	c.(904-906)gcG>gcA	p.A302A	COL2A1_ENST00000337299.6_Silent_p.A233A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	302	Triple-helical region.		Missing (in STL1). {ECO:0000269|PubMed:7977371}.		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGAGCACCCGCCTCTCCCT	0.542																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64	GRCh37	CD001475	COL2A1	D		c.(904-906)gcG>gcA		collagen, type II, alpha 1	Collagenase(DB00048)						70	68	69					12																	48387610		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48387610C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.906G>A	12.37:g.48387610C>T						COL2A1_ENST00000337299.6_Silent_p.A233A	p.A302A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			14	1070	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	302		Missing (in STL1).	Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.906G>A	CCDS41778.1																																																																																				0.542	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	51	0	0	0	1	0	6	51					T	48387610	C	T	48387610	2	4	109	1	0	0	0	0	0	0	0	1	3687	639	23	2		2	COL2A1	12	48387610	Silent	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08	36365189	48387610	85464285	13	1998										
ALDH1L2	160428	broad.mit.edu	37	chr12	105433512	105433512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	tcttcatgatctgtttgccaAtaggagtggatccagtgaaa	10	7	3	2			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr12:105433512A>G	ENST00000258494.9	-	17	2164	c.2024T>C	c.(2023-2025)aTt>aCt	p.I675T	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	675	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGTTTGCCAATAGGAGTGGA	0.393																																						ENST00000258494.9																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(2023-2025)aTt>aCt		aldehyde dehydrogenase 1 family, member L2							164	151	155					12																	105433512		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105433512A>G	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2024T>C	12.37:g.105433512A>G	ENSP00000258494:p.Ile675Thr					C12orf45_ENST00000548583.1_Intron	p.I675T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN			17	2164	-			675			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2024T>C	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629951	0.46944	.	.	ENSG00000136010	ENST00000258494	T	0.73152	-0.72	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.152930	0.64402	D	0.000016	T	0.31295	0.0792	N	0.00092	-2.175	0.80722	D	1	B	0.06786	0.001	B	0.14578	0.011	T	0.40924	-0.9537	10	0.44086	T	0.13	.	10.6272	0.45514	0.9198:0.0:0.0802:0.0	.	675	Q3SY69	AL1L2_HUMAN	T	675	ENSP00000258494:I675T	ENSP00000258494:I675T	I	-	2	0	ALDH1L2	103957642	1.000000	0.71417	0.724000	0.30704	0.997000	0.91878	7.479000	0.81095	2.167000	0.68274	0.528000	0.53228	ATT		0.393	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		7	33	0	0	0	1	0	7	33					G	105433512	A	G	105433512	3	3	109	1	0	0	0	0	1	0	0	0	495	101	4	4	775	4	ALDH1L2	12	105433512	Missense_Mutation	SNP	A	TCGA-SP-A6QF-01A-12D-A35I-08	57045902	105433512	28418383	14	1999										
RABGGTA	5875	broad.mit.edu	37	chr14	24738839	24738839	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	aggctgtcagtgaaggctagCtcttctgcagggggcacggc	16	10	3	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr14:24738839C>A	ENST00000399409.3	-	5	972	c.489G>T	c.(487-489)gaG>gaT	p.E163D	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E163D|RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	163					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TGAAGGCTAGCTCTTCTGCAG	0.592																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(487-489)gaG>gaT		Rab geranylgeranyltransferase, alpha subunit							52	62	58					14																	24738839		2087	4201	6288	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24738839C>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.489G>T	14.37:g.24738839C>A	ENSP00000382341:p.Glu163Asp					RABGGTA_ENST00000216840.6_Missense_Mutation_p.E163D|RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR	p.E163D	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	5	972	-			163					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.489G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934463	0.73442	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.58506	0.33;0.33	5.4	3.4	0.38934	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.92784	3.345	0.80722	D	1	D	0.65815	0.995	D	0.71184	0.972	T	0.77819	-0.2446	10	0.72032	D	0.01	-15.1651	7.9954	0.30265	0.0:0.7003:0.0:0.2997	.	163	Q92696	PGTA_HUMAN	D	163;163;126	ENSP00000216840:E163D;ENSP00000382341:E163D	ENSP00000216840:E163D	E	-	3	2	RABGGTA	23808679	0.998000	0.40836	0.941000	0.38009	0.991000	0.79684	0.530000	0.23036	0.505000	0.28104	0.561000	0.74099	GAG		0.592	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		3	52	1	0	1	1	1	3	52					A	24738839	C	A	24738839	3	1	109	1	0	0	0	0	1	0	0	0	12967	796	28	5	1262	5	RABGGTA	14	24738839	Missense_Mutation	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08		24738839	82610701	15	2000										
SPTB	6710	broad.mit.edu	37	chr14	65260383	65260383	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	agcacactggtcaggtctttGccatagtccagggaagaata	11	9	2	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr14:65260383G>C	ENST00000389721.5	-	13	2030	c.1998C>G	c.(1996-1998)ggC>ggG	p.G666G	SPTB_ENST00000389722.3_Silent_p.G666G|SPTB_ENST00000556626.1_Silent_p.G666G|SPTB_ENST00000542895.1_Silent_p.G666G|SPTB_ENST00000389720.3_Silent_p.G666G	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	666					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGGTCTTTGCCATAGTCCA	0.537																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1996-1998)ggC>ggG		spectrin, beta, erythrocytic							122	88	100					14																	65260383		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260383G>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1998C>G	14.37:g.65260383G>C						SPTB_ENST00000389720.3_Silent_p.G666G|SPTB_ENST00000389721.5_Silent_p.G666G|SPTB_ENST00000556626.1_Silent_p.G666G|SPTB_ENST00000542895.1_Silent_p.G666G	p.G666G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2051	-		all_lung(585;4.15e-09)	666					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.1998C>G	CCDS32100.1																																																																																				0.537	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			3	41	0	0	0	1	0	3	41					C	65260383	G	C	65260383	2	2	109	1	0	0	0	0	0	0	0	1	15117	1306	46	5		5	SPTB	14	65260383	Silent	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	40521544	65260383	42089157	16	2001										
KIAA1199	57214	broad.mit.edu	37	chr15	81224299	81224299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	ctggagggccggcacaccagCgccctggccttccgcctgaa	13	17	0	1	rs375813681		TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr15:81224299C>T	ENST00000394685.3	+	22	3131	c.2712C>T	c.(2710-2712)agC>agT	p.S904S	KIAA1199_ENST00000356249.5_Silent_p.S904S|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.S904S			Q8WUJ3	CEMIP_HUMAN		904					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGCACACCAGCGCCCTGGCCT	0.557																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2710-2712)agC>agT		KIAA1199		C		0,4406		0,0,2203	87	98	94		2712	-3.5	1	15		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1199	NM_018689.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		904/1362	81224299	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81224299C>T																												ENST00000394685.3:c.2712C>T	15.37:g.81224299C>T						KIAA1199_ENST00000356249.5_Silent_p.S904S|KIAA1199_ENST00000220244.3_Silent_p.S904S|RP11-351M8.2_ENST00000560873.1_RNA	p.S904S			Q8WUJ3	K1199_HUMAN			22	3131	+			904					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.2712C>T	CCDS10315.1																																																																																				0.557	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			14	95	0	0	0	1	0	14	95					T	81224299	C	T	81224299	2	4	109	1	0	0	0	0	0	0	0	1	8213	767	27	1		1	KIAA1199	15	81224299	Silent	SNP	C	TCGA-SP-A6QF-01A-12D-A35I-08		81224299	21307093	17	2002										
RBL2	5934	broad.mit.edu	37	chr16	53476671	53476671	+	Frame_Shift_Del	DEL	T	T	-													0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	attagaaagaaacttcactgTttctgctgtaatttttaaga							TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr16:53476671delT	ENST00000262133.6	+	3	610	c.473delT	c.(472-474)gttfs	p.V158fs	RNU6-1153P_ENST00000516760.1_RNA	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	158					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTTCACTGTTTCTGCTGTA	0.388																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(472-474)gtfs		retinoblastoma-like 2 (p130)							55	57	57					16																	53476671		2198	4300	6498	SO:0001589	frameshift_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53476671delT	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.473delT	16.37:g.53476671delT	ENSP00000262133:p.Val158fs						p.V158fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			3	610	+			158					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Del	DEL	ENST00000262133.6	37	c.473delT	CCDS10748.1																																																																																				0.388	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		18	28						18	28	---	---	---	---	-	53476671	T	-	53476671	7	5	109	1	0	1	0	1	0	0	0	0	13110	1725	60	0	483	0	RBL2	16	53476671	Frame_Shift_Del	DEL	T	TCGA-SP-A6QF-01A-12D-A35I-08		53476671	36878082	18	2003										
FTO	79068	broad.mit.edu	37	chr16	53859931	53859931	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	ggcaaagatctgctcactccGgtatctcgcatcctcattgg	9	13	4	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr16:53859931G>A	ENST00000471389.1	+	3	501	c.279G>A	c.(277-279)ccG>ccA	p.P93P	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	93	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGCTCACTCCGGTATCTCGCA	0.493																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(277-279)ccG>ccA		fat mass and obesity associated							97	87	91					16																	53859931		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53859931G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.279G>A	16.37:g.53859931G>A						FTO_ENST00000394647.3_Intron	p.P93P	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			3	501	+			93			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.279G>A	CCDS32448.1																																																																																				0.493	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		5	41	0	0	0	1	0	5	41					A	53859931	G	A	53859931	2	1	109	1	0	0	0	0	0	0	0	1	6086	1103	39	2		2	FTO	16	53859931	Silent	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08	383260	53859931	36494822	19	2004										
SIGLEC5	8778	broad.mit.edu	37	chr19	52130952	52130952	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.05	1	1	0.748549323017408	0	1.37234042553191	1	1	0	aaaggagcatctgcagtgcaGaccctcagcctcccaggagc	11	14	2	1			TCGA-SP-A6QF-01A-12D-A35I-08	TCGA-SP-A6QF-10A-21D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88156dd0-256c-499d-ba23-d9c2128f6726	caa96f11-e971-4cb7-9d98-7d55335260ed	g.chr19:52130952G>A	ENST00000534261.2	-	7	1444	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	SIGLEC5_ENST00000429354.3_Silent_p.L349L|SIGLEC5_ENST00000222107.4_Silent_p.L349L|SIGLEC5_ENST00000570106.2_Silent_p.L349L|SIGLEC5_ENST00000599649.1_Silent_p.L349L			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	349					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTGCAGTGCAGACCCTCAGCC	0.647																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1045-1047)Ctg>Ttg		sialic acid binding Ig-like lectin 5							11	13	12					19																	52130952		2181	4283	6464	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130952G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1045C>T	19.37:g.52130952G>A						SIGLEC5_ENST00000534261.2_Silent_p.L349L|SIGLEC5_ENST00000570106.2_Silent_p.L349L|SIGLEC5_ENST00000429354.3_Silent_p.L349L|SIGLEC5_ENST00000599649.1_Silent_p.L349L	p.L349L			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1183	-		all_neural(266;0.0726)	349						Silent	SNP	ENST00000534261.2	37	c.1045C>T	CCDS33088.1																																																																																				0.647	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		4	7	0	0	0	1	0	4	7					A	52130952	G	A	52130952	2	1	109	1	0	0	0	0	0	0	0	1	14311	933	33	3		3	SIGLEC5	19	52130952	Silent	SNP	G	TCGA-SP-A6QF-01A-12D-A35I-08		52130952	6998031	20	2005										
ZEB2	9839	broad.mit.edu	37	chr2	145147119	145147119	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gtgatctccagtctcttcttCatctcgtatcgtttcgggat	8	11	5	1			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr2:145147119C>A	ENST00000558170.2	-	10	4728	c.3544G>T	c.(3544-3546)Gaa>Taa	p.E1182*	ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1158*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1182*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1182	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTCTCTTCTTCATCTCGTATC	0.478																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3544-3546)Gaa>Taa		zinc finger E-box binding homeobox 2							265	250	255					2																	145147119		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147119C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3544G>T	2.37:g.145147119C>A	ENSP00000454157:p.Glu1182*					ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1158*	p.E1182*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4728	-			1182			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.3544G>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	43	10.404943	0.99399	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.7048	19.7945	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	1158;1182;1182	.	ENSP00000302501:E1182X	E	-	1	0	ZEB2	144863589	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.746000	0.94184	0.591000	0.81541	GAA		0.478	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		4	109	1	0	1.23904e-05	1	1.23904e-05	4	109					A	145147119	C	A	145147119	4	1	110	1	0	0	0	0	0	1	0	0	17621	835	29	5	104	5	ZEB2	2	145147119	Nonsense_Mutation	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		145147119	98052254	1	2006										
ARHGAP10	79658	broad.mit.edu	37	chr4	148653479	148653479	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	ctgcagcccctggagttcagCgactgctacctcgacagccc	10	17	1	0			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr4:148653479C>T	ENST00000336498.3	+	1	266	c.27C>T	c.(25-27)agC>agT	p.S9S		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGGAGTTCAGCGACTGCTACC	0.672																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(25-27)agC>agT		Rho GTPase activating protein 10							30	30	30					4																	148653479		2203	4300	6503	SO:0001819	synonymous_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148653479C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.27C>T	4.37:g.148653479C>T							p.S9S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	1	266	+	all_hematologic(180;0.151)	Renal(17;0.0166)	9			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	c.27C>T	CCDS34075.1																																																																																				0.672	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	41	0	0	0	1	0	4	41					T	148653479	C	T	148653479	2	4	110	1	0	0	0	0	0	0	0	1	862	767	27	1		1	ARHGAP10	4	148653479	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		148653479	42500797	2	2007										
PCDHGA4	56111	broad.mit.edu	37	chr5	140737040	140737040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gacctattcccacgaggtctCcctcaccgcggactcgcgga	10	17	2	0	rs375569568		TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr5:140737040C>T	ENST00000571252.1	+	1	2273	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_5'Flank	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	758					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGTCTCCCTCACCGCG	0.602																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2272-2274)tCc>tTc				C	,,,PHE/SER,,PHE/SER	1,4405		0,1,2202	85	90	88		,,,2273,,2273	3.7	0.3	5		88	0,8600		0,0,4300	no	intron,intron,intron,missense,intron,missense	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,155,,155	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	,,,758/932,,758/821	140737040	1,13005	2203	4300	6503	SO:0001583	missense	56111							g.chr5:140737040C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2273C>T	5.37:g.140737040C>T	ENSP00000458570:p.Ser758Phe					PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S758F	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2273	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2273C>T	CCDS58979.1																																																																																				0.602	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		14	135	0	0	0	1	0	14	135					T	140737040	C	T	140737040	3	4	110	1	0	0	0	0	1	0	0	0	11556	855	30	3	2275	3	PCDHGA4	5	140737040	Missense_Mutation	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		140737040	40178220	3	2008										
GTPBP2	54676	broad.mit.edu	37	chr6	43589788	43589788	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gtctgacgtacgttgcccacGtgtactgtcacctggaatcc	10	13	2	1			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr6:43589788G>A	ENST00000307126.5	-	11	1583	c.1584C>T	c.(1582-1584)caC>caT	p.H528H	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.H440H	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CGTTGCCCACGTGTACTGTCA	0.552																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1582-1584)caC>caT		GTP binding protein 2							210	171	184					6																	43589788		2203	4300	6503	SO:0001819	synonymous_variant	54676						GTP binding|GTPase activity	g.chr6:43589788G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1584C>T	6.37:g.43589788G>A						GTPBP2_ENST00000307114.7_Silent_p.H440H|GTPBP2_ENST00000476510.1_5'UTR	p.H528H	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	1583	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		528						Silent	SNP	ENST00000307126.5	37	c.1584C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	g	5.020	0.189428	0.09547	.	.	ENSG00000172432	ENST00000419497;ENST00000432918	.	.	.	5.79	-6.95	0.01628	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66002	-0.6031	4	.	.	.	-15.7491	18.0049	0.89207	0.6017:0.0:0.3983:0.0	.	.	.	.	C	97	.	.	R	-	1	0	GTPBP2	43697766	0.663000	0.27448	0.274000	0.24659	0.923000	0.55619	-0.185000	0.09684	-2.203000	0.00744	-1.723000	0.00705	CGT		0.552	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			4	117	0	0	0	1	0	4	117					A	43589788	G	A	43589788	2	1	110	1	0	0	0	0	0	0	0	1	6880	1136	40	1		1	GTPBP2	6	43589788	Silent	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08		43589788	127525279	4	2009										
ABCF2	10061	broad.mit.edu	37	chr7	150915186	150915186	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	cctctccagttagcagcttcAgaagagttgacttccctgct	8	13	2	3	rs548630362		TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr7:150915186A>G	ENST00000287844.2	-	11	1428	c.1319T>C	c.(1318-1320)cTg>cCg	p.L440P	ABCF2_ENST00000222388.2_Missense_Mutation_p.L440P|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	440	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGCAGCTTCAGAAGAGTTGA	0.517													A|||	1	0.000199681	0	0	5008	,	,		19946	0		0	False		,,,				2504	0.001					ENST00000287844.2																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(1318-1320)cTg>cCg		ATP-binding cassette, sub-family F (GCN20), member 2							136	114	121					7																	150915186		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150915186A>G	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1319T>C	7.37:g.150915186A>G	ENSP00000287844:p.Leu440Pro					ABCF2_ENST00000222388.2_Missense_Mutation_p.L440P	p.L440P	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1428	-			440			ABC transporter 2.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.1319T>C	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527414	0.85706	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.95788	-3.81;-3.81	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	H	0.98238	4.18	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.987;0.992	D	0.99667	1.0995	10	0.87932	D	0	-2.4219	14.7613	0.69607	1.0:0.0:0.0:0.0	.	440;440	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	P	440	ENSP00000222388:L440P;ENSP00000287844:L440P	ENSP00000222388:L440P	L	-	2	0	ABCF2	150546119	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.543000	0.90651	2.078000	0.62432	0.482000	0.46254	CTG		0.517	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		5	76	0	0	0	1	0	5	76					G	150915186	A	G	150915186	3	3	110	1	0	0	0	0	1	0	0	0	66	188	7	4	613	4	ABCF2	7	150915186	Missense_Mutation	SNP	A	TCGA-SP-A6QG-01A-12D-A35I-08		150915186	8223477	5	2010										
EFHA2	286097	broad.mit.edu	37	chr8	16962937	16962937	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	catagattcatggataatctCcaaacagaagttctagaaat	6	7	3	3			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr8:16962937C>G	ENST00000318063.5	+	11	1143	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	367						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TGGATAATCTCCAAACAGAAG	0.313																																						ENST00000318063.5																			0											c.(1099-1101)ctC>ctG		mitochondrial calcium uptake family, member 3							40	39	40					8																	16962937		2193	4295	6488	SO:0001819	synonymous_variant	286097							g.chr8:16962937C>G	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1101C>G	8.37:g.16962937C>G						MICU3_ENST00000519866.1_3'UTR	p.L367L	NM_181723.2	NP_859074.1					11	1143	+								Q8IYZ3	Silent	SNP	ENST00000318063.5	37	c.1101C>G	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	C	5.850	0.340982	0.11069	.	.	ENSG00000155970	ENST00000519044	.	.	.	4.9	-1.78	0.07957	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25363	-1.0134	4	.	.	.	-6.8235	1.0634	0.01605	0.2984:0.2351:0.2808:0.1857	.	.	.	.	C	212	.	.	S	+	2	0	EFHA2	17007308	0.877000	0.30153	0.978000	0.43139	0.988000	0.76386	-0.083000	0.11286	-0.480000	0.06803	-0.291000	0.09656	TCC		0.313	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		8	58	0	0	0	1	0	8	58					G	16962937	C	G	16962937	2	3	110	1	0	0	0	0	0	0	0	1	4944	842	30	5		5	EFHA2	8	16962937	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		16962937	129401085	6	2011										
VPS13B	157680	broad.mit.edu	37	chr8	100479757	100479757	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	tgcacctccactctagctgtCacgtctcaaaaactgcttgc	6	15	3	0			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr8:100479757C>T	ENST00000358544.2	+	24	3672	c.3561C>T	c.(3559-3561)gtC>gtT	p.V1187V	VPS13B_ENST00000395996.1_Silent_p.V1187V|VPS13B_ENST00000357162.2_Silent_p.V1187V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1187					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTAGCTGTCACGTCTCAAA	0.438																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3559-3561)gtC>gtT		vacuolar protein sorting 13 homolog B (yeast)							234	204	214					8																	100479757		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100479757C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3561C>T	8.37:g.100479757C>T						VPS13B_ENST00000358544.2_Silent_p.V1187V|VPS13B_ENST00000357162.2_Silent_p.V1187V	p.V1187V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		24	3672	+	Breast(36;3.73e-07)		1187					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3561C>T	CCDS6280.1																																																																																				0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		31	127	0	0	0	1	0	31	127					T	100479757	C	T	100479757	2	4	110	1	0	0	0	0	0	0	0	1	17187	813	29	3		3	VPS13B	8	100479757	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08	83516820	100479757	45884265	7	2012										
NEBL	10529	broad.mit.edu	37	chr10	21158716	21158716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	tgccatcttgatgtctggtcGgtcaagttctgcactgtacg	11	10	4	1	rs370153729		TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr10:21158716G>A	ENST00000377122.4	-	6	931	c.535C>T	c.(535-537)Cga>Tga	p.R179*	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Nonsense_Mutation_p.R179*	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	179					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.R179*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGTCTGGTCGGTCAAGTTCT	0.368																																						ENST00000377122.4																			1	Substitution - Nonsense(1)	p.R179*(1)	endometrium(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(535-537)Cga>Tga		nebulette		G	,stop/ARG,	1,4405	2.1+/-5.4	0,1,2202	227	187	200		,535,	3.6	1	10		200	0,8600		0,0,4300	no	intron,stop-gained,intron	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,179/1015,	21158716	1,13005	2203	4300	6503	SO:0001587	stop_gained	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21158716G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.535C>T	10.37:g.21158716G>A	ENSP00000366326:p.Arg179*					NEBL_ENST00000377119.1_Nonsense_Mutation_p.R179*|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.R179*	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			6	931	-			179					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	c.535C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026689	0.97216	2.27E-4	0.0	ENSG00000078114	ENST00000377122;ENST00000377119	.	.	.	5.97	3.61	0.41365	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9103	0.58177	0.0:0.0:0.2679:0.7321	.	.	.	.	X	179	.	ENSP00000366323:R179X	R	-	1	2	NEBL	21198722	1.000000	0.71417	0.969000	0.41365	0.250000	0.25880	3.246000	0.51414	0.491000	0.27793	-0.262000	0.10625	CGA		0.368	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		4	125	0	0	0	1	0	4	125					A	21158716	G	A	21158716	4	1	110	1	0	0	0	0	0	1	0	0	10303	1124	39	2	2601	2	NEBL	10	21158716	Nonsense_Mutation	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08		21158716	114376031	8	2013										
STAC3	246329	broad.mit.edu	37	chr12	57643383	57643383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	ccgagtctctgctgggaaggAgggcttaggggactccagca	16	10	1	0			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr12:57643383A>G	ENST00000332782.2	-	2	238	c.37T>C	c.(37-39)Tcc>Ccc	p.S13P	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	13					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GCTGGGAAGGAGGGCTTAGGG	0.537																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(37-39)Tcc>Ccc		SH3 and cysteine rich domain 3							68	65	66					12																	57643383		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57643383A>G	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.37T>C	12.37:g.57643383A>G	ENSP00000329200:p.Ser13Pro					STAC3_ENST00000554578.1_Intron|STAC3_ENST00000546246.2_Intron	p.S13P	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			2	238	-			13					B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.37T>C	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360164	0.41801	.	.	ENSG00000185482	ENST00000332782;ENST00000553489	D;D	0.94793	-1.55;-3.52	5.07	1.48	0.22813	.	0.350840	0.21144	N	0.079440	T	0.82066	0.4956	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71368	-0.4614	10	0.02654	T	1	-14.5002	6.5772	0.22573	0.6062:0.0:0.3938:0.0	.	13	Q96MF2	STAC3_HUMAN	P	13	ENSP00000329200:S13P;ENSP00000452299:S13P	ENSP00000329200:S13P	S	-	1	0	STAC3	55929650	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.825000	0.39081	0.386000	0.24997	0.528000	0.53228	TCC		0.537	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		4	50	0	0	0	1	0	4	50					G	57643383	A	G	57643383	3	3	110	1	0	0	0	0	1	0	0	0	15240	304	11	4	1101	4	STAC3	12	57643383	Missense_Mutation	SNP	A	TCGA-SP-A6QG-01A-12D-A35I-08		57643383	76208512	9	2014										
ADCY9	115	broad.mit.edu	37	chr16	4015941	4015941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	aggtgggcatccttggcctgCgtgctgctgtcagaacccag	14	12	1	1	rs146633008	byFrequency	TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr16:4015941C>T	ENST00000294016.3	-	11	4435	c.3897G>A	c.(3895-3897)acG>acA	p.T1299T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1299					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTGGCCTGCGTGCTGCTGT	0.567													C|||	2	0.000399361	8e-04	0	5008	,	,		19847	0.001		0	False		,,,				2504	0					ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3895-3897)acG>acA		adenylate cyclase 9		C		1,4393	2.1+/-5.4	0,1,2196	95	88	90		3897	-11.3	0	16	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	ADCY9	NM_001116.3		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		1299/1354	4015941	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4015941C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3897G>A	16.37:g.4015941C>T							p.T1299T	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4435	-			1299	QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).				A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3897G>A	CCDS32382.1																																																																																				0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			3	68	0	0	0	1	0	3	68					T	4015941	C	T	4015941	2	4	110	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4015941	Silent	SNP	C	TCGA-SP-A6QG-01A-12D-A35I-08		4015941	86338812	10	2015										
CDC27	996	broad.mit.edu	37	chr17	45234323	45234323	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gctggtcctcctaataaactTcgaccagtttttggtttatt	7	9	0	0			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr17:45234323T>C	ENST00000066544.3	-	7	891	c.798A>G	c.(796-798)cgA>cgG	p.R266R	CDC27_ENST00000446365.2_Silent_p.R205R|CDC27_ENST00000527547.1_Silent_p.R266R|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Silent_p.R266R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTAATAAACTTCGACCAGTTT	0.358																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(796-798)cgA>cgG		cell division cycle 27							60	65	63					17																	45234323		2200	4293	6493	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234323T>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.798A>G	17.37:g.45234323T>C						CDC27_ENST00000446365.2_Silent_p.R205R|CDC27_ENST00000531206.1_Silent_p.R266R|CDC27_ENST00000527547.1_Silent_p.R266R	p.R266R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	891	-			266					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.798A>G	CCDS11509.1																																																																																				0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	73	0	0	0	1	0	8	73					C	45234323	T	C	45234323	2	2	110	1	0	0	0	0	0	0	0	1	3066	1770	62	4		4	CDC27	17	45234323	Silent	SNP	T	TCGA-SP-A6QG-01A-12D-A35I-08		45234323	35960887	11	2016										
HOXB3	3213	broad.mit.edu	37	chr17	46629486	46629486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gtggagttggtgccgggaccGcactttgggggaccactttt	16	9	0	0			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chr17:46629486G>A	ENST00000470495.1	-	1	1798	c.351C>T	c.(349-351)tgC>tgT	p.C117C	HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Silent_p.C44C|HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000498678.1_Silent_p.C117C			P14651	HXB3_HUMAN	homeobox B3	117					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGCCGGGACCGCACTTTGGGG	0.617																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(349-351)tgC>tgT		homeobox B3							164	184	177					17																	46629486		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629486G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.351C>T	17.37:g.46629486G>A						HOXB3_ENST00000485909.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Silent_p.C44C	p.C117C			P14651	HXB3_HUMAN			1	1798	-			117					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.351C>T	CCDS11528.1																																																																																				0.617	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			6	298	0	0	0	1	0	6	298					A	46629486	G	A	46629486	2	1	110	1	0	0	0	0	0	0	0	1	7302	1079	38	1		1	HOXB3	17	46629486	Silent	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08	1395163	46629486	34565724	12	2017										
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-													0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gctgcggctgggcgggacgcGcagcagcagcagcagcagca					rs35523939|rs72249350|rs139109693		TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		4	8						4	8	---	---	---	---	-	38079978	GCA	-	38079976	7	5	110	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-SP-A6QG-01A-12D-A35I-08		38079976	117190584	13	2018										
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000497680.1_5'Flank	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		3	5						3	5	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	110	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-SP-A6QG-01A-12D-A35I-08	16129326	54209302	101061258	14	2019										
TRMT2B	79979	broad.mit.edu	37	chrX	100297190	100297190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	0.911111111111111	0	1.025	1	1	0	gtggatttctggcataccagGgaagcagtcctggtttggag	15	7	1	0			TCGA-SP-A6QG-01A-12D-A35I-08	TCGA-SP-A6QG-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3443dd-2a18-4c31-b14e-d87edca616ff	d94a0f0a-e850-4bfb-b531-1259d30edbd6	g.chrX:100297190G>A	ENST00000372936.3	-	3	861	c.89C>T	c.(88-90)cCc>cTc	p.P30L	TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000338687.7_Missense_Mutation_p.P30L|TRMT2B-AS1_ENST00000443801.2_RNA|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P30L|TRMT2B_ENST00000545398.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P30L	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	30						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GGCATACCAGGGAAGCAGTCC	0.502																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(88-90)cCc>cTc		tRNA methyltransferase 2 homolog B (S. cerevisiae)							93	81	85					X																	100297190		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100297190G>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.89C>T	X.37:g.100297190G>A	ENSP00000362027:p.Pro30Leu					TRMT2B_ENST00000545398.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000372936.3_Missense_Mutation_p.P30L|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P30L|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P30L	p.P30L			Q96GJ1	TRM2_HUMAN			3	894	-			30					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.89C>T	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	G	6.872	0.530349	0.13127	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.71	0.569	0.17340	.	1.061280	0.07366	N	0.884909	T	0.37156	0.0993	M	0.66939	2.045	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.14578	0.011;0.005;0.005	T	0.45659	-0.9246	10	0.72032	D	0.01	-25.6958	0.832	0.01132	0.2213:0.1827:0.4059:0.1902	.	30;30;30	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	L	30	ENSP00000340970:P30L;ENSP00000438134:P30L;ENSP00000362030:P30L;ENSP00000362026:P30L;ENSP00000362027:P30L;ENSP00000362022:P30L	ENSP00000340970:P30L	P	-	2	0	TRMT2B	100183846	0.207000	0.23482	0.007000	0.13788	0.059000	0.15707	0.400000	0.20932	0.130000	0.18549	0.513000	0.50165	CCC		0.502	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		18	44	0	0	0	1	0	18	44					A	100297190	G	A	100297190	3	1	110	1	0	0	0	0	1	0	0	0	16563	1232	43	3	1473	3	TRMT2B	23	100297190	Missense_Mutation	SNP	G	TCGA-SP-A6QG-01A-12D-A35I-08	46087888	100297190	54973370	15	2020										
C1orf106	55765	broad.mit.edu	37	chr1	200878465	200878465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctggccagtggcagggccGcaccagtgccccagccaccc	12	19	0	0			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr1:200878465G>A	ENST00000367342.4	+	8	1354	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	C1orf106_ENST00000413687.2_Missense_Mutation_p.R300H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	385										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCAGGGCCGCACCAGTGCC	0.642																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1153-1155)cGc>cAc		chromosome 1 open reading frame 106							19	20	19					1																	200878465		2200	4297	6497	SO:0001583	missense	55765							g.chr1:200878465G>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1154G>A	1.37:g.200878465G>A	ENSP00000356311:p.Arg385His					C1orf106_ENST00000413687.2_Missense_Mutation_p.R300H	p.R385H	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			8	1354	+			385					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1154G>A		.	.	.	.	.	.	.	.	.	.	G	19.94	3.920304	0.73098	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.47177	0.85;0.88	5.14	4.22	0.49857	.	0.362860	0.25994	N	0.026993	T	0.50257	0.1605	L	0.51422	1.61	0.29496	N	0.855308	D	0.67145	0.996	P	0.51806	0.68	T	0.51474	-0.8701	10	0.49607	T	0.09	-18.9217	10.6241	0.45497	0.0912:0.0:0.9088:0.0	.	385	Q3KP66	CA106_HUMAN	H	385;300	ENSP00000356311:R385H;ENSP00000392105:R300H	ENSP00000356311:R385H	R	+	2	0	C1orf106	199145088	0.870000	0.30015	1.000000	0.80357	0.811000	0.45836	3.975000	0.56859	1.158000	0.42547	0.655000	0.94253	CGC		0.642	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		3	22	0	0	0	1	0	3	22					A	200878465	G	A	200878465	3	1	111	1	0	0	0	0	1	0	0	0	1980	1087	38	1	1184	1	C1orf106	1	200878465	Missense_Mutation	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		200878465	48372156	1	2021										
ID2	3398	broad.mit.edu	37	chr2	8822538	8822538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcagatcgccctggactcGcatcccactattgtcagcct	8	16	1	1			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr2:8822538G>A	ENST00000234091.4	+	3	1103	c.243G>A	c.(241-243)tcG>tcA	p.S81S	ID2_ENST00000396290.1_Silent_p.S81S|ID2_ENST00000331129.3_Silent_p.S81S|AC011747.7_ENST00000455965.1_RNA			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	81					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)	p.S81S(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCTGGACTCGCATCCCACTA	0.582																																						ENST00000234091.4																			1	Substitution - coding silent(1)	p.S81S(1)	prostate(1)	breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(241-243)tcG>tcA		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							68	70	69					2																	8822538		2203	4300	6503	SO:0001819	synonymous_variant	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822538G>A		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"Basic helix-loop-helix proteins"	5361	protein-coding gene	gene with protein product	"cell growth-inhibiting gene 8"	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.243G>A	2.37:g.8822538G>A						ID2_ENST00000331129.3_Silent_p.S81S|ID2_ENST00000396290.1_Silent_p.S81S	p.S81S			Q02363	ID2_HUMAN			3	1103	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		81						Silent	SNP	ENST00000234091.4	37	c.243G>A	CCDS1659.1																																																																																				0.582	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		3	54	0	0	0	1	0	3	54					A	8822538	G	A	8822538	2	1	111	1	0	0	0	0	0	0	0	1	7490	1074	38	1		1	ID2	2	8822538	Silent	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		8822538	234376835	2	2022										
ZBBX	79740	broad.mit.edu	37	chr3	167031891	167031891	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagctattcttctgacaatCatgaaaagcacaactttcac	4	10	4	2			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr3:167031891C>A	ENST00000392766.2	-	16	1628	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	ZBBX_ENST00000455345.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	430						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTCTGACAATCATGAAAAGCA	0.299																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1288-1290)Gat>Tat		zinc finger, B-box domain containing							92	83	86					3																	167031891		1822	4079	5901	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031891C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1288G>T	3.37:g.167031891C>A	ENSP00000376519:p.Asp430Tyr					ZBBX_ENST00000307529.5_Missense_Mutation_p.D430Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D430Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D401Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D430Y	p.D430Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			16	1628	-			430					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1288G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122869	0.37436	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12569	2.84;2.84;2.83;2.83;2.67	5.29	5.29	0.74685	.	0.295572	0.29280	N	0.012619	T	0.31544	0.0800	L	0.52573	1.65	0.37284	D	0.907954	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.96	T	0.08126	-1.0737	10	0.87932	D	0	-13.4703	14.7753	0.69726	0.0:1.0:0.0:0.0	.	430;430	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Y	430;430;430;430;401	ENSP00000376519:D430Y;ENSP00000376520:D430Y;ENSP00000390232:D430Y;ENSP00000305065:D430Y;ENSP00000376517:D401Y	ENSP00000305065:D430Y	D	-	1	0	ZBBX	168514585	0.100000	0.21855	0.972000	0.41901	0.035000	0.12851	0.399000	0.20916	2.620000	0.88729	0.655000	0.94253	GAT		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		12	58	1	0	0.00136819	1	0.00145941	12	58					A	167031891	C	A	167031891	3	1	111	1	0	0	0	0	1	0	0	0	17513	826	29	5	1138	5	ZBBX	3	167031891	Missense_Mutation	SNP	C	TCGA-SP-A6QH-01A-21D-A35I-08		167031891	30990539	3	2023										
PCDHGA7	56108	broad.mit.edu	37	chr5	140763352	140763352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagatgtttcatctgaacTcgcttacaggagaaatatca	7	8	3	3			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr5:140763352T>C	ENST00000518325.1	+	1	886	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCTGAACTCGCTTACAGG	0.418																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(886-888)Tcg>Ccg									56	56	56					5																	140763352		1860	4107	5967	SO:0001583	missense	56108							g.chr5:140763352T>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.886T>C	5.37:g.140763352T>C	ENSP00000430024:p.Ser296Pro					PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.S296P	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	886	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.886T>C	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.617509	0.00828	.	.	ENSG00000253537	ENST00000518325	T	0.03124	4.04	5.15	2.71	0.32032	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02380	0.0073	N	0.12443	0.215	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.15484	0.013;0.012	T	0.49418	-0.8942	9	0.19590	T	0.45	.	8.0274	0.30444	0.0:0.0711:0.1367:0.7922	.	296;296	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	P	296	ENSP00000430024:S296P	ENSP00000430024:S296P	S	+	1	0	PCDHGA7	140743536	0.000000	0.05858	0.862000	0.33874	0.268000	0.26511	-2.642000	0.00863	0.359000	0.24239	-0.316000	0.08728	TCG		0.418	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	23	0	0	0	1	0	7	23					C	140763352	T	C	140763352	3	2	111	1	0	0	0	0	1	0	0	0	11559	1551	54	4	888	4	PCDHGA7	5	140763352	Missense_Mutation	SNP	T	TCGA-SP-A6QH-01A-21D-A35I-08		140763352	40151908	4	2024										
CCHCR1	54535	broad.mit.edu	37	chr6	31110764	31110766	+	In_Frame_Del	DEL	CTG	CTG	-													0	0	1	0	0	0	1	1	0	tatggactccctggtgggcaCtgctgctgctacaggtgcag					rs140560656		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr6:31110764_31110766delCTG	ENST00000376266.5	-	17	2320_2322	c.2198_2200delCAG	c.(2197-2202)gcagtg>gtg	p.A733del	CCHCR1_ENST00000396268.3_In_Frame_Del_p.A822del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.A680del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.A786del	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	733			A -> V. {ECO:0000269|PubMed:11348465}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTGGGCACTGCTGCTGCTAC	0.532																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(2464-2469)gtg>g		coiled-coil alpha-helical rod protein 1																																				SO:0001651	inframe_deletion	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110764_31110766delCTG	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2198_2200delCAG	6.37:g.31110770_31110772delCTG	ENSP00000365442:p.Ala733del					CCHCR1_ENST00000376266.5_In_Frame_Del_p.AV733del|CCHCR1_ENST00000451521.2_In_Frame_Del_p.AV786del|CCHCR1_ENST00000396263.2_In_Frame_Del_p.AV680del	p.AV822del	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN			17	2653_2655	-			733					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	In_Frame_Del	DEL	ENST00000376266.5	37	c.2465_2467delCAG	CCDS4695.1																																																																																				0.532	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		7	382						7	382	---	---	---	---	-	31110766	CTG	-	31110764	7	5	111	1	0	1	0	1	0	0	0	0	2877	565	20	0	156	0	CCHCR1	6	31110764	In_Frame_Del	DEL	CTG	TCGA-SP-A6QH-01A-21D-A35I-08		31110764	140004303	5	2025										
SYPL1	6856	broad.mit.edu	37	chr7	105738244	105738244	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgcaaaggtaacatagaaTtgtgcagaagaagagtaatc	10	5	0	4			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr7:105738244T>C	ENST00000011473.2	-	4	394	c.348A>G	c.(346-348)caA>caG	p.Q116Q	SYPL1_ENST00000470347.1_Silent_p.Q98Q|SYPL1_ENST00000455385.2_Silent_p.Q98Q	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	116	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						TAACATAGAATTGTGCAGAAG	0.423																																						ENST00000455385.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						c.(292-294)caA>caG		synaptophysin-like 1							155	134	141					7																	105738244		2203	4300	6503	SO:0001819	synonymous_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105738244T>C		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"synaptophysin-like protein"	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.348A>G	7.37:g.105738244T>C						SYPL1_ENST00000470347.1_Silent_p.Q98Q|SYPL1_ENST00000011473.2_Silent_p.Q116Q	p.Q98Q	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN			3	416	-			116			MARVEL.		A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	37	c.294A>G	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401855	0.25291	.	.	ENSG00000008282	ENST00000464029	.	.	.	5.52	-2.56	0.06268	.	.	.	.	.	T	0.63686	0.2532	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62576	-0.6825	4	.	.	.	2.9479	13.8388	0.63426	0.0:0.674:0.0:0.326	.	.	.	.	S	22	.	.	N	-	2	0	SYPL1	105525480	0.991000	0.36638	0.992000	0.48379	0.996000	0.88848	0.190000	0.17057	-0.354000	0.08212	0.533000	0.62120	AAT		0.423	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			9	48	0	0	0	1	0	9	48					C	105738244	T	C	105738244	2	2	111	1	0	0	0	0	0	0	0	1	15459	1490	52	4		4	SYPL1	7	105738244	Silent	SNP	T	TCGA-SP-A6QH-01A-21D-A35I-08		105738244	53400419	6	2026										
SPIC	121599	broad.mit.edu	37	chr12	101880259	101880259	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaagaaaaacttgccgagCtttgggggaaaagaaaaggc	12	6	0	2			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr12:101880259C>A	ENST00000551346.1	+	6	616	c.457C>A	c.(457-459)Ctt>Att	p.L153I	SPIC_ENST00000299272.5_Missense_Mutation_p.L153I			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	153					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTGCCGAGCTTTGGGGGAA	0.418																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(457-459)Ctt>Att		Spi-C transcription factor (Spi-1/PU.1 related)							54	57	56					12																	101880259		2203	4300	6503	SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880259C>A	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.457C>A	12.37:g.101880259C>A	ENSP00000448580:p.Leu153Ile					SPIC_ENST00000299272.5_Missense_Mutation_p.L153I	p.L153I			Q8N5J4	SPIC_HUMAN			6	616	+			153						Missense_Mutation	SNP	ENST00000551346.1	37	c.457C>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722300	0.68959	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.59083	0.29;0.29	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.118491	0.64402	D	0.000014	T	0.75708	0.3886	M	0.86028	2.79	0.38165	D	0.939168	D	0.89917	1.0	D	0.87578	0.998	T	0.78507	-0.2177	10	0.37606	T	0.19	0.1823	11.5071	0.50472	0.0:0.9167:0.0:0.0833	.	153	Q8N5J4	SPIC_HUMAN	I	153	ENSP00000448580:L153I;ENSP00000299272:L153I	ENSP00000299272:L153I	L	+	1	0	SPIC	100404390	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	2.781000	0.47750	2.323000	0.78572	0.650000	0.86243	CTT		0.418	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		4	43	1	0	1	1	1	4	43					A	101880259	C	A	101880259	3	1	111	1	0	0	0	0	1	0	0	0	15050	797	28	5	469	5	SPIC	12	101880259	Missense_Mutation	SNP	C	TCGA-SP-A6QH-01A-21D-A35I-08		101880259	31971636	7	2027										
ITGBL1	9358	broad.mit.edu	37	chr13	102359178	102359178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaagctctgccaacatccgcGgaagtgtaacatgacggaag	11	10	1	1	rs149770736		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr13:102359178G>A	ENST00000376180.3	+	9	1424	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q|ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	402	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAACATCCGCGGAAGTGTAAC	0.517																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(1204-1206)cGg>cAg		integrin, beta-like 1 (with EGF-like repeat domains)		G	GLN/ARG	0,4406		0,0,2203	167	140	149		1205	4.1	0.4	13	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGBL1	NM_004791.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	402/495	102359178	1,13005	2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359178G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1205G>A	13.37:g.102359178G>A	ENSP00000365351:p.Arg402Gln					ITGBL1_ENST00000376162.3_Missense_Mutation_p.R309Q|ITGBL1_ENST00000545560.2_Missense_Mutation_p.R261Q	p.R402Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			9	1424	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		402			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1205G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488367	0.64074	0.0	1.16E-4	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	T;T;T	0.58797	0.31;0.31;0.31	5.91	4.08	0.47627	.	0.044027	0.85682	N	0.000000	T	0.42040	0.1185	L	0.33137	0.985	0.43444	D	0.995628	B;B	0.18610	0.005;0.029	B;B	0.18871	0.002;0.023	T	0.15150	-1.0447	10	0.12766	T	0.61	.	10.0239	0.42059	0.0782:0.1376:0.7841:0.0	.	261;402	B3KTP1;O95965	.;ITGBL_HUMAN	Q	402;310;261;261;309	ENSP00000365351:R402Q;ENSP00000439903:R261Q;ENSP00000365332:R309Q	ENSP00000365332:R309Q	R	+	2	0	ITGBL1	101157179	1.000000	0.71417	0.442000	0.26870	0.888000	0.51559	6.383000	0.73172	0.737000	0.32582	0.655000	0.94253	CGG		0.517	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		4	148	0	0	0	1	0	4	148					A	102359178	G	A	102359178	3	1	111	1	0	0	0	0	1	0	0	0	7902	1116	39	2	1239	2	ITGBL1	13	102359178	Missense_Mutation	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		102359178	12810700	8	2028										
DOC2A	8448	broad.mit.edu	37	chr16	30020586	30020586	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	gcgaggccattgaaatccatGggcttgaggccctggagagg							TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr16:30020586delG	ENST00000350119.4	-	4	544	c.354delC	c.(352-354)cccfs	p.P118fs	DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P118fs|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P118fs	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	118	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGAAATCCATGGGCTTGAGGC	0.647																																						ENST00000350119.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(352-354)ccfs		double C2-like domains, alpha							19	16	17					16																	30020586		2178	4277	6455	SO:0001589	frameshift_variant	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30020586delG	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.354delC	16.37:g.30020586delG	ENSP00000340017:p.Pro118fs					DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P118fs|DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P118fs	p.P118fs	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN			4	544	-			118			C2 1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Frame_Shift_Del	DEL	ENST00000350119.4	37	c.354delC	CCDS10666.1																																																																																				0.647	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		2	4						2	4	---	---	---	---	-	30020586	G	-	30020586	7	5	111	1	0	1	0	1	0	0	0	0	4683	1335	47	0	880	0	DOC2A	16	30020586	Frame_Shift_Del	DEL	G	TCGA-SP-A6QH-01A-21D-A35I-08		30020586	60334167	9	2029										
TMEM132E	124842	broad.mit.edu	37	chr17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcaccagccagtcagtcaagCggaggatcatgtggcacatt	11	11	4	0	rs371393529		TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chr17:32956104C>T	ENST00000321639.5	+	5	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	317						integral component of membrane (GO:0016021)		p.R317W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612																																						ENST00000321639.5																			1	Substitution - Missense(1)	p.R317W(1)	cervix(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(949-951)Cgg>Tgg		transmembrane protein 132E			TRP/ARG	0,4406		0,0,2203	100	93	95		949	3.5	1	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM132E	NM_207313.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	317/985	32956104	1,13005	2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32956104C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.949C>T	17.37:g.32956104C>T	ENSP00000316532:p.Arg317Trp						p.R317W	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	5	1277	+			317					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.949C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187608	0.38609	0.0	1.16E-4	ENSG00000181291	ENST00000321639	T	0.19532	2.14	4.51	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.65975	2.015	0.51233	D	0.999917	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.72032	D	0.01	-29.8251	11.4588	0.50197	0.3265:0.6735:0.0:0.0	.	317	Q6IEE7	T132E_HUMAN	W	317	ENSP00000316532:R317W	ENSP00000316532:R317W	R	+	1	2	TMEM132E	29980217	0.995000	0.38212	0.984000	0.44739	0.044000	0.14063	1.296000	0.33389	1.236000	0.43740	0.447000	0.29281	CGG		0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	69	0	0	0	1	0	9	69					T	32956104	C	T	32956104	3	4	111	1	0	0	0	0	1	0	0	0	16045	759	27	1	967	1	TMEM132E	17	32956104	Missense_Mutation	SNP	C	TCGA-SP-A6QH-01A-21D-A35I-08		32956104	48239106	10	2030										
GPRASP1	9737	broad.mit.edu	37	chrX	101911811	101911811	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacaatggaagcaactgtggGtccaggacattagctgatga	13	7	0	2			TCGA-SP-A6QH-01A-21D-A35I-08	TCGA-SP-A6QH-11A-12D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06c3f43d-8457-4be9-95fd-b7c86e5ad223	b9e1eb7d-7b59-483a-a035-d7b571ca085e	g.chrX:101911811G>C	ENST00000361600.5	+	5	3771	c.2970G>C	c.(2968-2970)ggG>ggC	p.G990G	GPRASP1_ENST00000415986.1_Silent_p.G990G|GPRASP1_ENST00000537097.1_Silent_p.G990G|GPRASP1_ENST00000444152.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	990	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAACTGTGGGTCCAGGACAT	0.512																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2968-2970)ggG>ggC		G protein-coupled receptor associated sorting protein 1							154	132	140					X																	101911811		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101911811G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2970G>C	X.37:g.101911811G>C						GPRASP1_ENST00000361600.5_Silent_p.G990G|GPRASP1_ENST00000415986.1_Silent_p.G990G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.G990G	p.G990G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3783	+			990			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.2970G>C	CCDS35352.1																																																																																				0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		4	64	0	0	0	1	0	4	64					C	101911811	G	C	101911811	2	2	111	1	0	0	0	0	0	0	0	1	6722	1248	44	5		5	GPRASP1	23	101911811	Silent	SNP	G	TCGA-SP-A6QH-01A-21D-A35I-08		101911811	53358749	11	2031										
HAPLN2	60484	broad.mit.edu	37	chr1	156593628	156593628	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	cgggcccccactacctcctgCcccccatccacgaggtcatt							TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr1:156593628delC	ENST00000255039.1	+	4	522	c.115delC	c.(115-117)cccfs	p.P40fs		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	40	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACCTCCTGCCCCCCATCCA	0.677																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(115-117)ccfs		hyaluronan and proteoglycan link protein 2							9	10	9					1																	156593628		2076	4093	6169	SO:0001589	frameshift_variant	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593628delC	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.115delC	1.37:g.156593628delC	ENSP00000255039:p.Pro40fs						p.P40fs	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			4	522	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		40			Ig-like V-type.		Q5T3J0	Frame_Shift_Del	DEL	ENST00000255039.1	37	c.115delC	CCDS1148.1																																																																																				0.677	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		3	6						3	6	---	---	---	---	-	156593628	C	-	156593628	7	5	112	1	0	1	0	1	0	0	0	0	6955	739	26	0	121	0	HAPLN2	1	156593628	Frame_Shift_Del	DEL	C	TCGA-SP-A6QI-01A-12D-A35I-08		156593628	92656993	1	2032										
GLT25D2	23127	broad.mit.edu	37	chr1	183933121	183933121	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	gggggatgggcaggtagccaTagtgctctctgttgcagagg	18	7	1	1			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr1:183933121T>C	ENST00000361927.4	-	6	1237	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	COLGALT2_ENST00000546159.1_Missense_Mutation_p.Y289C|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y26C	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	289					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CAGGTAGCCATAGTGCTCTCT	0.517																																						ENST00000361927.4																			0											c.(865-867)tAt>tGt		collagen beta(1-O)galactosyltransferase 2							142	114	123					1																	183933121		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183933121T>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.866A>G	1.37:g.183933121T>C	ENSP00000354960:p.Tyr289Cys					COLGALT2_ENST00000546159.1_Missense_Mutation_p.Y289C|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y26C	p.Y289C	NM_015101.2	NP_055916.1					6	1237	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.866A>G	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.768921	0.69878	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.60424	0.19;0.19	5.74	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.83599	0.0127	10	0.87932	D	0	.	11.8976	0.52665	0.1308:0.0:0.0:0.8692	.	289;289;26	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	C	289;289;26	ENSP00000439112:Y289C;ENSP00000354960:Y289C	ENSP00000354960:Y289C	Y	-	2	0	GLT25D2	182199744	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.831000	0.69330	0.938000	0.37419	0.533000	0.62120	TAT		0.517	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		9	29	0	0	0	1	0	9	29					C	183933121	T	C	183933121	3	2	112	1	0	0	0	0	1	0	0	0	6467	1406	49	4	1042	4	GLT25D2	1	183933121	Missense_Mutation	SNP	T	TCGA-SP-A6QI-01A-12D-A35I-08	27339493	183933121	65317500	2	2033										
PREB	10113	broad.mit.edu	37	chr2	27355237	27355237	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	aatttgcactgtgaagagtcGcaggccagcaggctggtctg	14	9	1	2			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr2:27355237G>A	ENST00000260643.2	-	6	1040	c.787C>T	c.(787-789)Cga>Tga	p.R263*	PREB_ENST00000406567.3_Intron|PREB_ENST00000416802.1_5'Flank	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	263					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAGTCGCAGGCCAGCA	0.627																																						ENST00000260643.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(787-789)Cga>Tga		prolactin regulatory element binding							32	39	37					2																	27355237		2200	4297	6497	SO:0001587	stop_gained	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27355237G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"WD repeat domain containing"	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.787C>T	2.37:g.27355237G>A	ENSP00000260643:p.Arg263*					PREB_ENST00000406567.3_Intron	p.R263*	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN			6	1040	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		263					Q53SZ8|Q9UH94	Nonsense_Mutation	SNP	ENST00000260643.2	37	c.787C>T	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.740606|4.740606	0.89573|0.89573	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000456259;ENST00000430533|ENST00000260643;ENST00000546336	.|.	.|.	.|.	5.97|5.97	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34077|.	0.0885|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43861|.	-0.9365|.	3|.	.|0.13108	.|T	.|0.6	-9.3881|-9.3881	7.7354|7.7354	0.28810|0.28810	0.0807:0.0:0.7553:0.1639|0.0807:0.0:0.7553:0.1639	.|.	.|.	.|.	.|.	V|X	6;18|263	.|.	.|ENSP00000260643:R263X	A|R	-|-	2|1	0|2	PREB|PREB	27208741|27208741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	3.755000|3.755000	0.55197|0.55197	1.494000|1.494000	0.48533|0.48533	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.627	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		6	30	0	0	0	1	0	6	30					A	27355237	G	A	27355237	4	1	112	1	0	0	0	0	0	1	0	0	12470	1095	38	1	482	1	PREB	2	27355237	Nonsense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		27355237	215844136	3	2034										
MAP1D	254042	broad.mit.edu	37	chr2	172928475	172928475	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	actatgtgacgacaggcattGtaccagactggggagacagc	13	9	0	3			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr2:172928475G>C	ENST00000315796.4	+	3	622	c.235G>C	c.(235-237)Gta>Cta	p.V79L	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	79					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GACAGGCATTGTACCAGACTG	0.483																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(235-237)Gta>Cta		methionyl aminopeptidase type 1D (mitochondrial)							111	91	98					2																	172928475		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172928475G>C	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"methionine aminopeptidase 1D"	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.235G>C	2.37:g.172928475G>C	ENSP00000315152:p.Val79Leu					METAP1D_ENST00000488581.1_3'UTR	p.V79L	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			3	622	+			79					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.235G>C	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749526	0.49257	.	.	ENSG00000172878	ENST00000315796	T	0.42131	0.98	5.49	5.49	0.81192	Peptidase M24, structural domain (1);	0.055265	0.64402	D	0.000001	T	0.45276	0.1334	M	0.64170	1.965	0.80722	D	1	B	0.20052	0.041	B	0.17098	0.017	T	0.29579	-1.0007	10	0.34782	T	0.22	-5.989	19.7404	0.96228	0.0:0.0:1.0:0.0	.	79	Q6UB28	AMP1D_HUMAN	L	79	ENSP00000315152:V79L	ENSP00000315152:V79L	V	+	1	0	METAP1D	172636721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.024000	0.64090	2.734000	0.93682	0.655000	0.94253	GTA		0.483	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		3	31	0	0	0	1	0	3	31					C	172928475	G	C	172928475	3	2	112	1	0	0	0	0	1	0	0	0	9229	1377	48	5	245	5	MAP1D	2	172928475	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08	145573238	172928475	70270898	4	2035										
C6orf211	79624	broad.mit.edu	37	chr6	151790032	151790032	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	aagggtgatttgaattacagGaagttgacaggtgacagaaa	13	3	0	5			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr6:151790032G>A	ENST00000367294.3	+	5	1372	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	C6orf211_ENST00000545879.1_Silent_p.R252R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	371										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGAATTACAGGAAGTTGACAG	0.413																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(1111-1113)agG>agA		chromosome 6 open reading frame 211							76	80	78					6																	151790032		2203	4300	6503	SO:0001819	synonymous_variant	79624						protein binding	g.chr6:151790032G>A	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1113G>A	6.37:g.151790032G>A						C6orf211_ENST00000545879.1_Silent_p.R252R	p.R371R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1372	+			371					Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	c.1113G>A	CCDS5233.1																																																																																				0.413	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		18	60	0	0	0	1	0	18	60					A	151790032	G	A	151790032	2	1	112	1	0	0	0	0	0	0	0	1	2354	1165	41	3		3	C6orf211	6	151790032	Silent	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		151790032	19325035	5	2036										
OGDHL	55753	broad.mit.edu	37	chr10	50946031	50946031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	caggatctgccggcgcagcaCgtggaagtagttggccggtg	17	10	1	0			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr10:50946031C>T	ENST00000374103.4	-	19	2564	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	827					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGCGCAGCACGTGGAAGTAG	0.652																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2479-2481)Gtg>Atg		oxoglutarate dehydrogenase-like							196	186	189					10																	50946031		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946031C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2479G>A	10.37:g.50946031C>T	ENSP00000363216:p.Val827Met					OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M	p.V827M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			19	2564	-			827					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2479G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588378	0.66105	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91577	-2.87;-2.87;-2.87	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	L	0.35542	1.07	0.80722	D	1	P;P;P	0.40619	0.677;0.677;0.724	B;B;B	0.39068	0.092;0.143;0.289	D	0.89078	0.3474	10	0.87932	D	0	.	17.9498	0.89048	0.0:1.0:0.0:0.0	.	770;618;827	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	M	827;770;618	ENSP00000363216:V827M;ENSP00000401356:V770M;ENSP00000390240:V618M	ENSP00000363216:V827M	V	-	1	0	OGDHL	50616037	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	4.072000	0.57563	2.222000	0.72286	0.650000	0.86243	GTG		0.652	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	177	0	0	0	1	0	5	177					T	50946031	C	T	50946031	3	4	112	1	0	0	0	0	1	0	0	0	10840	536	19	1	573	1	OGDHL	10	50946031	Missense_Mutation	SNP	C	TCGA-SP-A6QI-01A-12D-A35I-08		50946031	84588716	6	2037										
MED13L	23389	broad.mit.edu	37	chr12	116413346	116413346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	ggtaaagcaatatttacaacGcaggtctctaataattcccc	6	10	1	0	rs139063441		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr12:116413346G>A	ENST00000281928.3	-	24	5768	c.5562C>T	c.(5560-5562)tgC>tgT	p.C1854C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1854						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATTTACAACGCAGGTCTCTA	0.418																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5560-5562)tgC>tgT		mediator complex subunit 13-like		G		1,4405	2.1+/-5.4	0,1,2202	66	63	64		5562	1.8	1	12	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	MED13L	NM_015335.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1854/2211	116413346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413346G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5562C>T	12.37:g.116413346G>A							p.C1854C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	24	5768	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1854					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.5562C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166886	0.21621	2.27E-4	0.0	ENSG00000123066	ENST00000552447	.	.	.	5.86	1.81	0.25067	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51545	-0.8692	4	.	.	.	.	10.2501	0.43364	0.37:0.0:0.63:0.0	.	.	.	.	C	47	.	.	R	-	1	0	MED13L	114897729	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	1.519000	0.35888	0.112000	0.17975	0.650000	0.86243	CGT		0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			3	44	0	0	0	1	0	3	44					A	116413346	G	A	116413346	2	1	112	1	0	0	0	0	0	0	0	1	9431	1079	38	1		1	MED13L	12	116413346	Silent	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		116413346	17438549	7	2038										
CLIP1	6249	broad.mit.edu	37	chr12	122825338	122825338	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	cttttcaatctctaaatgttTaatctgtttctcagctgcct	4	10	4	0			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr12:122825338T>C	ENST00000540338.1	-	10	2454	c.2413A>G	c.(2413-2415)Aaa>Gaa	p.K805E	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E|CLIP1_ENST00000358808.2_Missense_Mutation_p.K794E|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E|CLIP1_ENST00000361654.4_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	805					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCTAAATGTTTAATCTGTTTC	0.368																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2380-2382)Aaa>Gaa		CAP-GLY domain containing linker protein 1							103	107	106					12																	122825338		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825338T>C		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2413A>G	12.37:g.122825338T>C	ENSP00000439093:p.Lys805Glu					CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000540338.1_Missense_Mutation_p.K805E|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E	p.K794E	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2534	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		805					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.2380A>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233114	0.39498	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338	T;T;T;T	0.75477	-0.94;-0.94;0.78;0.79	5.73	3.29	0.37713	.	0.470083	0.24359	N	0.039206	T	0.66376	0.2783	L	0.59436	1.845	0.26654	N	0.972049	P;P;P	0.38827	0.649;0.649;0.518	B;B;B	0.39840	0.311;0.311;0.164	T	0.53899	-0.8373	10	0.12766	T	0.61	-9.4091	8.3131	0.32084	0.0:0.0716:0.3122:0.6162	.	759;794;805	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	E	794;794;759;805	ENSP00000303585:K794E;ENSP00000351665:K794E;ENSP00000445531:K759E;ENSP00000439093:K805E	ENSP00000303585:K794E	K	-	1	0	CLIP1	121391291	1.000000	0.71417	0.483000	0.27378	0.997000	0.91878	1.578000	0.36525	0.485000	0.27652	0.533000	0.62120	AAA		0.368	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		4	79	0	0	0	1	0	4	79					C	122825338	T	C	122825338	3	2	112	1	0	0	0	0	1	0	0	0	3532	1763	61	4	1967	4	CLIP1	12	122825338	Missense_Mutation	SNP	T	TCGA-SP-A6QI-01A-12D-A35I-08	6411992	122825338	11026557	8	2039										
IGDCC4	57722	broad.mit.edu	37	chr15	65678300	65678300	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	gtgcacaagggactccaattCatgggcagctggggggctgg	17	9	1	0			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr15:65678300C>G	ENST00000352385.2	-	18	3258	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1017						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GACTCCAATTCATGGGCAGCT	0.677											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3049-3051)Gaa>Caa		immunoglobulin superfamily, DCC subclass, member 4							13	15	14					15																	65678300		2153	4239	6392	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65678300C>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3049G>C	15.37:g.65678300C>G	ENSP00000319623:p.Glu1017Gln		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.E1017Q	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3258	-			1017					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3049G>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044321	0.55110	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.62639	0.01	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000017	T	0.74053	0.3666	L	0.55481	1.735	0.38802	D	0.955218	D	0.89917	1.0	D	0.66716	0.946	T	0.77194	-0.2677	10	0.56958	D	0.05	-15.4077	16.2555	0.82515	0.0:1.0:0.0:0.0	.	1017	Q8TDY8	IGDC4_HUMAN	Q	1017;746	ENSP00000319623:E1017Q	ENSP00000319623:E1017Q	E	-	1	0	IGDCC4	63465353	1.000000	0.71417	0.993000	0.49108	0.046000	0.14306	4.821000	0.62679	2.503000	0.84419	0.561000	0.74099	GAA		0.677	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		9	30	0	0	0	1	0	9	30					G	65678300	C	G	65678300	3	3	112	1	0	0	0	0	1	0	0	0	7569	835	29	5	715	5	IGDCC4	15	65678300	Missense_Mutation	SNP	C	TCGA-SP-A6QI-01A-12D-A35I-08		65678300	36853092	9	2040										
SLC7A5	8140	broad.mit.edu	37	chr16	87866625	87866625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	gcttctgacacaggacggtcGtggagactgtcaggagagaa	15	8	2	3	rs144253961		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr16:87866625G>A	ENST00000261622.4	-	10	1540	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	492					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CAGGACGGTCGTGGAGACTGT	0.647																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1474-1476)aCg>aTg		solute carrier family 7 (amino acid transporter light chain, L system), member 5		A	MET/THR	1,4395	2.1+/-5.4	0,1,2197	134	141	138		1475	-0.1	0	16	dbSNP_134	138	0,8600		0,0,4300	no	missense	SLC7A5	NM_003486.5	81	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	492/508	87866625	1,12995	2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87866625G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1475C>T	16.37:g.87866625G>A	ENSP00000261622:p.Thr492Met					SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M	p.T492M	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	10	1540	-			492					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1475C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	g	1.003	-0.690416	0.03303	2.27E-4	0.0	ENSG00000103257	ENST00000261622	D	0.90900	-2.75	5.2	-0.137	0.13469	.	0.773297	0.11727	N	0.535269	T	0.71264	0.3319	N	0.01048	-1.04	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.62450	-0.6852	10	0.34782	T	0.22	.	7.9718	0.30132	0.4249:0.0:0.5751:0.0	.	492	Q01650	LAT1_HUMAN	M	492	ENSP00000261622:T492M	ENSP00000261622:T492M	T	-	2	0	SLC7A5	86424126	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.719000	0.25881	-0.018000	0.14079	-1.212000	0.01626	ACG		0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		4	119	0	0	0	1	0	4	119					A	87866625	G	A	87866625	3	1	112	1	0	0	0	0	1	0	0	0	14700	1145	40	1	52	1	SLC7A5	16	87866625	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		87866625	2488128	10	2041										
TBXA2R	6915	broad.mit.edu	37	chr19	3600626	3600626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	ccccagggaactgccgttggGccacatggctccggagccct	13	16	0	0			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr19:3600626G>A	ENST00000375190.4	-	2	400	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	3					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CTGCCGTTGGGCCACATGGCT	0.657																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(7-9)Ccc>Tcc		thromboxane A2 receptor	Ridogrel(DB01207)						13	14	14					19																	3600626		2012	4097	6109	SO:0001583	missense	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600626G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.7C>T	19.37:g.3600626G>A	ENSP00000364336:p.Pro3Ser					TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S	p.P3S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	400	-		Hepatocellular(1079;0.137)	3					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.7C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693601	0.30052	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.38077	1.44;1.16	4.77	-4.39	0.03611	.	1.559050	0.04106	U	0.313694	T	0.15782	0.0380	N	0.08118	0	0.27040	N	0.964027	B;B	0.18461	0.003;0.028	B;B	0.13407	0.001;0.009	T	0.17501	-1.0367	10	0.52906	T	0.07	-25.5092	1.2785	0.02036	0.2749:0.2587:0.3351:0.1312	.	3;3	P21731;E2QRJ2	TA2R_HUMAN;.	S	3	ENSP00000393333:P3S;ENSP00000364336:P3S	ENSP00000364336:P3S	P	-	1	0	TBXA2R	3551626	0.059000	0.20769	0.930000	0.37139	0.104000	0.19210	-0.844000	0.04345	-0.410000	0.07542	-0.389000	0.06534	CCC		0.657	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			3	17	0	0	0	1	0	3	17					A	3600626	G	A	3600626	3	1	112	1	0	0	0	0	1	0	0	0	15660	1203	42	3	1277	3	TBXA2R	19	3600626	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08		3600626	55528357	11	2042										
FSD1	79187	broad.mit.edu	37	chr19	4311908	4311908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	ctgtgtgaccctggtgtggcGcatgccggatgaggacagca	16	10	0	2	rs545061368		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr19:4311908G>A	ENST00000221856.6	+	7	707	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FSD1_ENST00000597590.1_Missense_Mutation_p.R187H|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	187	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R187L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGTGGCGCATGCCGGAT	0.642													G|||	1	0.000199681	0	0	5008	,	,		16896	0		0	False		,,,				2504	0.001					ENST00000221856.6																			1	Substitution - Missense(1)	p.R187L(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(559-561)cGc>cAc		fibronectin type III and SPRY domain containing 1							138	104	116					19																	4311908		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4311908G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.560G>A	19.37:g.4311908G>A	ENSP00000221856:p.Arg187His					FSD1_ENST00000597590.1_Missense_Mutation_p.R187H|FSD1_ENST00000598010.1_3'UTR	p.R187H	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	7	707	+			187			Fibronectin type-III.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.560G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383445	0.42207	.	.	ENSG00000105255	ENST00000221856	T	0.57436	0.4	5.33	3.2	0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.213055	0.39615	N	0.001304	T	0.48696	0.1514	M	0.71036	2.16	0.23809	N	0.996783	B	0.12013	0.005	B	0.20955	0.032	T	0.43163	-0.9408	10	0.38643	T	0.18	.	8.4299	0.32750	0.193:0.0:0.807:0.0	.	187	Q9BTV5	FSD1_HUMAN	H	187	ENSP00000221856:R187H	ENSP00000221856:R187H	R	+	2	0	FSD1	4262908	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.801000	0.38843	1.218000	0.43458	0.561000	0.74099	CGC		0.642	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		4	62	0	0	0	1	0	4	62					A	4311908	G	A	4311908	3	1	112	1	0	0	0	0	1	0	0	0	6070	1087	38	1	586	1	FSD1	19	4311908	Missense_Mutation	SNP	G	TCGA-SP-A6QI-01A-12D-A35I-08	711282	4311908	54817075	12	2043										
NECAB3	63941	broad.mit.edu	37	chr20	32247350	32247350	+	Frame_Shift_Del	DEL	G	G	-													0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	ttcacgcaggggttccagccGgggggcctgtgagggcacag							TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr20:32247350delG	ENST00000246190.6	-	8	887	c.832delC	c.(832-834)cggfs	p.R278fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.R244fs|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	278					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GGTTCCAGCCGGGGGGCCTGT	0.697																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(832-834)ggfs		N-terminal EF-hand calcium binding protein 3							6	9	8					20																	32247350		1843	4046	5889	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247350delG	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.832delC	20.37:g.32247350delG	ENSP00000246190:p.Arg278fs					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.R244fs	p.R278fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			8	887	-			278					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.832delC	CCDS42866.1																																																																																				0.697	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---	-	32247350	G	-	32247350	7	5	112	1	0	1	0	1	0	0	0	0	10306	1115	39	0	378	0	NECAB3	20	32247350	Frame_Shift_Del	DEL	G	TCGA-SP-A6QI-01A-12D-A35I-08		32247350	30778170	13	2044			1	2		2	2	38	N	G_C	1.673287e-05
NECAB3	63941	broad.mit.edu	37	chr20	32247387	32247387	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	1.01646090534979	4.57407407407407	0	1	1	0	acagagtgtgggccgggcctCcagcatgggcctggctctgg							TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr20:32247387delC	ENST00000246190.6	-	8	850	c.795delG	c.(793-795)tggfs	p.W265fs	NECAB3_ENST00000375238.4_Intron|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_Intron	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	265					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GGCCGGGCCTCCAGCATGGGC	0.687																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(793-795)tgfs		N-terminal EF-hand calcium binding protein 3							8	12	11					20																	32247387		1872	4087	5959	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247387delC	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	15851	protein-coding gene	gene with protein product	"EF-hand calcium binding protein 3"	612478	"amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.795delG	20.37:g.32247387delC	ENSP00000246190:p.Trp265fs					NECAB3_ENST00000606525.1_Intron|NECAB3_ENST00000375238.4_Intron	p.W265fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			8	850	-			265					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.795delG	CCDS42866.1																																																																																				0.687	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---	-	32247387	C	-	32247387	7	5	112	1	0	1	0	1	0	0	0	0	10306	856	30	0	415	0	NECAB3	20	32247387	Frame_Shift_Del	DEL	C	TCGA-SP-A6QI-01A-12D-A35I-08	37	32247387	30778133	14	2045			1	2		2	2	38	N	G_C	1.673287e-05
ARNT	405	broad.mit.edu	37	chr1	150814926	150814930	+	Frame_Shift_Del	DEL	GCTCT	GCTCT	-													0	0	1	0	NA	0	1	1	0	agtctctctttatccgcagaGctctgctcatcatccgacct							TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:150814926_150814930delGCTCT	ENST00000358595.5	-	5	442_446	c.242_246delAGAGC	c.(241-246)cagagcfs	p.QS81fs	ARNT_ENST00000515192.1_Frame_Shift_Del_p.QS72fs|ARNT_ENST00000354396.2_Frame_Shift_Del_p.QS81fs|ARNT_ENST00000505755.1_Intron	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	81					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCCGCAGAGCTCTGCTCATCATC	0.39			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(241-246)cfs		aryl hydrocarbon receptor nuclear translocator																																				SO:0001589	frameshift_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150814926_150814930delGCTCT	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"Basic helix-loop-helix proteins"	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.242_246delAGAGC	1.37:g.150814926_150814930delGCTCT	ENSP00000351407:p.Gln81fs					ARNT_ENST00000505755.1_Intron|ARNT_ENST00000354396.2_Frame_Shift_Del_p.QS81fs|ARNT_ENST00000515192.1_Frame_Shift_Del_p.QS72fs	p.QS81fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	442_446	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		81					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Frame_Shift_Del	DEL	ENST00000358595.5	37	c.242_246delAGAGC	CCDS970.1																																																																																				0.39	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			37	84						37	84	---	---	---	---	-	150814930	GCTCT	-	150814926	7	5	113	1	0	1	0	1	0	0	0	0	965	962	34	0	2195	0	ARNT	1	150814926	Frame_Shift_Del	DEL	GCTCT	TCGA-SP-A6QJ-01A-11D-A35I-08		150814926	98435695	1	2046										
TOR3A	64222	broad.mit.edu	37	chr1	179064186	179064186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcctttggagtaccgtcacGtgaggctgtgtgcacgggat	15	9	1	1			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr1:179064186G>A	ENST00000367627.3	+	6	1779	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	343					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GTACCGTCACGTGAGGCTGTG	0.507																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1027-1029)Gtg>Atg		torsin family 3, member A							198	172	181					1																	179064186		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064186G>A	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"ATP-dependant interferon responsive"	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1027G>A	1.37:g.179064186G>A	ENSP00000356599:p.Val343Met					TOR3A_ENST00000352445.6_Intron	p.V343M	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			6	1779	+			343					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1027G>A	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588928	0.86851	.	.	ENSG00000186283	ENST00000367627	T	0.29917	1.55	5.69	4.76	0.60689	.	0.060704	0.64402	D	0.000003	T	0.61986	0.2391	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.69953	-0.5005	10	0.66056	D	0.02	-37.8626	14.0444	0.64695	0.0733:0.0:0.9267:0.0	.	343	Q9H497	TOR3A_HUMAN	M	343	ENSP00000356599:V343M	ENSP00000356599:V343M	V	+	1	0	TOR3A	177330809	1.000000	0.71417	0.984000	0.44739	0.837000	0.47467	6.423000	0.73361	2.676000	0.91093	0.655000	0.94253	GTG		0.507	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		4	101	0	0	0	1	0	4	101					A	179064186	G	A	179064186	3	1	113	1	0	0	0	0	1	0	0	0	16373	1145	40	1	1049	1	TOR3A	1	179064186	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08	28249260	179064186	70186435	2	2047										
TTN	7273	broad.mit.edu	37	chr2	179650740	179650740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaaatgcgttccttatatccGtactccaaagtggtctgctg	9	10	1	0			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr2:179650740G>A	ENST00000591111.1	-	14	2429	c.2205C>T	c.(2203-2205)taC>taT	p.Y735Y	TTN_ENST00000342175.6_Silent_p.Y689Y|TTN_ENST00000589042.1_Silent_p.Y735Y|TTN_ENST00000342992.6_Silent_p.Y735Y|TTN_ENST00000359218.5_Silent_p.Y689Y|TTN_ENST00000460472.2_Silent_p.Y689Y|TTN_ENST00000360870.5_Silent_p.Y735Y			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTATATCCGTACTCCAAAG	0.537																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2203-2205)taC>taT		titin							93	87	89					2																	179650740		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650740G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2205C>T	2.37:g.179650740G>A						TTN_ENST00000591111.1_Silent_p.Y735Y|TTN_ENST00000460472.2_Silent_p.Y689Y|TTN_ENST00000342175.6_Silent_p.Y689Y|TTN_ENST00000342992.6_Silent_p.Y735Y|TTN_ENST00000360870.5_Silent_p.Y735Y|TTN_ENST00000359218.5_Silent_p.Y689Y	p.Y735Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2429	-			735					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.2205C>T																																																																																					0.537	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	54	0	0	0	1	0	3	54					A	179650740	G	A	179650740	2	1	113	1	0	0	0	0	0	0	0	1	16732	1140	40	1		1	TTN	2	179650740	Silent	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08		179650740	63548633	3	2048										
FLNB	2317	broad.mit.edu	37	chr3	58104625	58104625	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	atgcaggttctggtgacttaCggtggcgatcccatccctaa					rs370142959		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr3:58104625delC	ENST00000295956.4	+	19	2937	c.2772delC	c.(2770-2772)tacfs	p.Y924fs	FLNB_ENST00000490882.1_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000358537.3_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000357272.4_Frame_Shift_Del_p.Y924fs	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	924				Y -> H (in Ref. 7; CAE46040). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTGACTTACGGTGGCGATC	0.473																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(2770-2772)tafs		filamin B, beta							158	134	142					3																	58104625		2203	4300	6503	SO:0001589	frameshift_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58104625delC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2772delC	3.37:g.58104625delC	ENSP00000295956:p.Tyr924fs					FLNB_ENST00000358537.3_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000295956.4_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.Y755fs|FLNB_ENST00000490882.1_Frame_Shift_Del_p.Y924fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.Y924fs	p.Y924fs			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	19	2937	+			924	Y -> H (in Ref. 6; CAE46040).				B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Frame_Shift_Del	DEL	ENST00000295956.4	37	c.2772delC	CCDS2885.1																																																																																				0.473	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		26	51						26	51	---	---	---	---	-	58104625	C	-	58104625	7	5	113	1	0	1	0	1	0	0	0	0	5934	547	19	0	2846	0	FLNB	3	58104625	Frame_Shift_Del	DEL	C	TCGA-SP-A6QJ-01A-11D-A35I-08		58104625	139917805	4	2049										
PDLIM5	10611	broad.mit.edu	37	chr4	95376476	95376476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tgtcactggttggcccagctCcttggggtttccggctgcag	14	12	1	0			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr4:95376476C>T	ENST00000317968.4	+	2	173	c.37C>T	c.(37-39)Cct>Tct	p.P13S	PDLIM5_ENST00000514743.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000504489.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000359265.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P13S|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000512274.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P13S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	13	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGGCCCAGCTCCTTGGGGTTT	0.408																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(37-39)Cct>Tct		PDZ and LIM domain 5							65	64	65					4																	95376476		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95376476C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.37C>T	4.37:g.95376476C>T	ENSP00000321746:p.Pro13Ser					PDLIM5_ENST00000450793.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000504489.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P13S|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P13S|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000512274.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P13S|PDLIM5_ENST00000359265.4_Missense_Mutation_p.P13S|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P13S	p.P13S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	2	173	+		Hepatocellular(203;0.114)	13			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.37C>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232696	0.95207	.	.	ENSG00000163110	ENST00000359265;ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000512274;ENST00000503974;ENST00000504489;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;1.17;1.17;1.17;1.17;1.17;1.17;2.35;1.17;2.35;1.17;1.17	5.51	5.51	0.81932	PDZ/DHR/GLGF (4);	0.071660	0.56097	D	0.000033	D	0.85566	0.5726	M	0.66378	2.025	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.923;1.0;1.0;0.999	D;D;P;D;D;D	0.97110	0.999;0.999;0.755;1.0;0.996;0.998	D	0.86675	0.1913	10	0.87932	D	0	.	18.1706	0.89744	0.0:1.0:0.0:0.0	.	13;13;13;13;13;13	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	S	13	ENSP00000352210:P13S;ENSP00000398469:P13S;ENSP00000369527:P13S;ENSP00000322021:P13S;ENSP00000401579:P13S;ENSP00000439795:P13S;ENSP00000321746:P13S;ENSP00000426379:P13S;ENSP00000424297:P13S;ENSP00000423009:P13S;ENSP00000426804:P13S;ENSP00000424360:P13S	ENSP00000321746:P13S	P	+	1	0	PDLIM5	95595499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.578000	0.87016	0.591000	0.81541	CCT		0.408	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			6	12	0	0	0	1	0	6	12					T	95376476	C	T	95376476	3	4	113	1	0	0	0	0	1	0	0	0	11683	855	30	3	39	3	PDLIM5	4	95376476	Missense_Mutation	SNP	C	TCGA-SP-A6QJ-01A-11D-A35I-08		95376476	95777800	5	2050										
CHSY3	337876	broad.mit.edu	37	chr5	129520747	129520747	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgacattttcttgagattcAtggagaactttgaaaacatg	8	5	2	4			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr5:129520747A>G	ENST00000305031.4	+	3	2270	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	638					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CTTGAGATTCATGGAGAACTT	0.398																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1912-1914)Atg>Gtg		chondroitin sulfate synthase 3							79	81	80					5																	129520747		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520747A>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1912A>G	5.37:g.129520747A>G	ENSP00000302629:p.Met638Val						p.M638V	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2270	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	638					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1912A>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090394	0.55968	.	.	ENSG00000198108	ENST00000305031	T	0.29142	1.58	4.12	4.12	0.48240	.	0.000000	0.64402	D	0.000002	T	0.44201	0.1282	M	0.65975	2.015	0.54753	D	0.999989	P	0.46064	0.872	P	0.52031	0.688	T	0.38478	-0.9659	9	.	.	.	-7.4609	14.1845	0.65595	1.0:0.0:0.0:0.0	.	638	Q70JA7	CHSS3_HUMAN	V	638	ENSP00000302629:M638V	.	M	+	1	0	CHSY3	129548646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.261000	0.78400	2.069000	0.61940	0.528000	0.53228	ATG		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		9	71	0	0	0	1	0	9	71					G	129520747	A	G	129520747	3	3	113	1	0	0	0	0	1	0	0	0	3413	217	8	4	1922	4	CHSY3	5	129520747	Missense_Mutation	SNP	A	TCGA-SP-A6QJ-01A-11D-A35I-08		129520747	51394513	6	2051										
MAP3K4	4216	broad.mit.edu	37	chr6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgctgctgctgctgctgCtgctgttgctgccagtcggc	14	13	0	0			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3592-3594)gCt>gTt		mitogen-activated protein kinase kinase kinase 4							93	92	92					6																	161519378		2203	4299	6502	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519378C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3593C>T	6.37:g.161519378C>T	ENSP00000375986:p.Ala1198Val					MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	p.A1198V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3741	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1198			Poly-Ala.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3593C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360800	0.01245	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71103	-0.54;-0.53	2.29	2.29	0.28610	.	0.754387	0.11657	N	0.542271	T	0.51227	0.1662	N	0.19112	0.55	0.26345	N	0.977309	B;D	0.57571	0.073;0.98	B;D	0.65443	0.037;0.935	T	0.39354	-0.9618	10	0.10377	T	0.69	-7.006	8.5531	0.33465	0.0:1.0:0.0:0.0	.	1194;1198	F5H538;Q9Y6R4	.;M3K4_HUMAN	V	1198;1194	ENSP00000375986:A1198V;ENSP00000355887:A1194V	ENSP00000355887:A1194V	A	+	2	0	MAP3K4	161439368	0.010000	0.17322	0.105000	0.21289	0.511000	0.34104	0.116000	0.15561	1.726000	0.51525	0.366000	0.22137	GCT		0.597	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			5	137	0	0	0	1	0	5	137					T	161519378	C	T	161519378	3	4	113	1	0	0	0	0	1	0	0	0	9252	797	28	3	3659	3	MAP3K4	6	161519378	Missense_Mutation	SNP	C	TCGA-SP-A6QJ-01A-11D-A35I-08		161519378	9595689	7	2052										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		30	36	0	0	0	1	0	30	36					C	533874	T	C	533874	3	2	113	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-SP-A6QJ-01A-11D-A35I-08		533874	134472642	8	2053										
AHNAK	79026	broad.mit.edu	37	chr11	62294307	62294307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caagttgacgtctacttcagGgccctctgctttgaagccag	10	12	3	2	rs151063380		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr11:62294307G>A	ENST00000378024.4	-	5	7856	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2528					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTACTTCAGGGCCCTCTGCT	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7582-7584)Cct>Tct		AHNAK nucleoprotein		G	SER/PRO,	0,4404		0,0,2202	160	159	159		7582,	3.1	0	11	dbSNP_134	159	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	74,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,	2528/5891,	62294307	1,13001	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294307G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7582C>T	11.37:g.62294307G>A	ENSP00000367263:p.Pro2528Ser					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P2528S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7856	-		Melanoma(852;0.155)	2528					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7582C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	8.684	0.905828	0.17760	0.0	1.16E-4	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05649	3.41	3.99	3.06	0.35304	.	.	.	.	.	T	0.13157	0.0319	M	0.90252	3.1	0.29099	N	0.881583	B	0.25312	0.123	B	0.24974	0.057	T	0.05582	-1.0876	9	0.54805	T	0.06	.	7.1759	0.25744	0.0906:0.0:0.7427:0.1667	.	2528	Q09666	AHNK_HUMAN	S	617;2528	ENSP00000367263:P2528S	ENSP00000244934:P617S	P	-	1	0	AHNAK	62050883	0.914000	0.31030	0.042000	0.18584	0.008000	0.06430	1.636000	0.37144	0.810000	0.34279	0.298000	0.19748	CCT		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	180	0	0	0	1	0	7	180					A	62294307	G	A	62294307	3	1	113	1	0	0	0	0	1	0	0	0	414	1232	43	3	10210	3	AHNAK	11	62294307	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08	61760433	62294307	72712209	9	2054										
H1FNT	341567	broad.mit.edu	37	chr12	48723377	48723377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggccgccacgaagcgcccagGgggcaggccaaggccacgct	16	16	0	0			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr12:48723377G>T	ENST00000335017.1	+	1	615	c.303G>T	c.(301-303)agG>agT	p.R101S		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	101					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AAGCGCCCAGGGGGCAGGCCA	0.672																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(301-303)agG>agT		H1 histone family, member N, testis-specific							15	19	18					12																	48723377		2199	4290	6489	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723377G>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.303G>T	12.37:g.48723377G>T	ENSP00000334805:p.Arg101Ser						p.R101S	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	615	+			101					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.303G>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645585	0.29246	.	.	ENSG00000187166	ENST00000335017	T	0.18338	2.22	5.13	0.907	0.19321	.	.	.	.	.	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	1	B	0.29341	0.242	B	0.21917	0.037	T	0.37731	-0.9693	9	0.18710	T	0.47	0.0586	5.0714	0.14609	0.1503:0.1175:0.6119:0.1202	.	101	Q75WM6	H1FNT_HUMAN	S	101	ENSP00000334805:R101S	ENSP00000334805:R101S	R	+	3	2	H1FNT	47009644	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.442000	0.35046	-0.042000	0.13535	-0.813000	0.03139	AGG		0.672	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		8	7	1	0	0.000274275	1	0.000274275	8	7					T	48723377	G	T	48723377	3	4	113	1	0	0	0	0	1	0	0	0	6921	1223	43	5	305	5	H1FNT	12	48723377	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08		48723377	85128518	10	2055										
SKA3	221150	broad.mit.edu	37	chr13	21746483	21746483	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgaagttattcaaacctgaaTttttcttgacacgtggacta	7	7	2	3			TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr13:21746483T>G	ENST00000314759.5	-	3	450	c.326A>C	c.(325-327)aAt>aCt	p.N109T	SKA3_ENST00000400018.3_Missense_Mutation_p.N109T	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	109					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAACCTGAATTTTTCTTGAC	0.303																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(325-327)aAt>aCt		spindle and kinetochore associated complex subunit 3							72	80	77					13																	21746483		2202	4295	6497	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21746483T>G	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.326A>C	13.37:g.21746483T>G	ENSP00000319417:p.Asn109Thr					SKA3_ENST00000400018.3_Missense_Mutation_p.N109T	p.N109T	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			3	450	-			109					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.326A>C	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884280	0.33255	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.23147	1.92;1.92	5.52	3.08	0.35506	.	0.416974	0.27802	N	0.017797	T	0.19765	0.0475	L	0.53249	1.67	0.09310	N	1	P;B	0.38677	0.642;0.386	B;B	0.34242	0.178;0.178	T	0.18304	-1.0341	10	0.54805	T	0.06	-14.3663	4.8452	0.13510	0.0:0.1656:0.1579:0.6765	.	109;109	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	T	109	ENSP00000319417:N109T;ENSP00000382896:N109T	ENSP00000319417:N109T	N	-	2	0	SKA3	20644483	0.058000	0.20735	0.715000	0.30552	0.918000	0.54935	0.436000	0.21526	0.386000	0.24997	0.482000	0.46254	AAT		0.303	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		32	46	0	0	0	1	0	32	46					G	21746483	T	G	21746483	3	3	113	1	0	0	0	0	1	0	0	0	14354	1493	52	5	987	5	SKA3	13	21746483	Missense_Mutation	SNP	T	TCGA-SP-A6QJ-01A-11D-A35I-08		21746483	93423395	11	2056										
CEACAM5	1048	broad.mit.edu	37	chr19	42231224	42231224	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	attggagtgctggttggggtTgctctgatatagcagccctg	15	7	1	1	rs200460609		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chr19:42231224T>G	ENST00000221992.6	+	9	2211	c.2097T>G	c.(2095-2097)gtT>gtG	p.V699V	CEACAM5_ENST00000405816.1_Silent_p.V699V|CEACAM5_ENST00000398599.4_Silent_p.V698V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	699					homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGTTGGGGTTGCTCTGATAT	0.498																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(2095-2097)gtT>gtG		carcinoembryonic antigen-related cell adhesion molecule 5							317	303	308					19																	42231224		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42231224T>G	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.2097T>G	19.37:g.42231224T>G						CEACAM5_ENST00000398599.4_Silent_p.V698V|CEACAM5_ENST00000405816.1_Silent_p.V699V|CEA_ENST00000598976.1_Intron	p.V699V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	9	2211	+			699					H9KVA7	Silent	SNP	ENST00000221992.6	37	c.2097T>G	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	1.178	-0.639098	0.03557	.	.	ENSG00000105388	ENST00000398599	.	.	.	1.98	-2.17	0.07059	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	.	3.0437	0.06146	0.1591:0.0:0.3683:0.4726	.	.	.	.	G	695	.	.	C	+	1	0	CEACAM5	46923064	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.493000	0.06459	-0.398000	0.07679	-0.659000	0.03860	TGC		0.498	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		12	218	0	0	0	1	0	12	218					G	42231224	T	G	42231224	2	3	113	1	0	0	0	0	0	0	0	1	3195	1799	63	5		5	CEACAM5	19	42231224	Silent	SNP	T	TCGA-SP-A6QJ-01A-11D-A35I-08		42231224	16897759	12	2057										
CACNA1F	778	broad.mit.edu	37	chrX	49062200	49062200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgccgaggtacccctcccccGctgcgccctcttccaccaac	7	22	1	0	rs2856748		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chrX:49062200G>A	ENST00000376265.2	-	47	5640	c.5579C>T	c.(5578-5580)gCg>gTg	p.A1860V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1795V|AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1849V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1860				A -> G (in Ref. 6; AAB92359). {ECO:0000305}.	axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1860V(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCTCCCCCGCTGCGCCCTC	0.652																																						ENST00000376265.2																			1	Substitution - Missense(1)	p.A1860V(1)	endometrium(1)	autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5578-5580)gCg>gTg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						33	26	29					X																	49062200		2201	4297	6498	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49062200G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5579C>T	X.37:g.49062200G>A	ENSP00000365441:p.Ala1860Val					CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1795V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1849V	p.A1860V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			47	5640	-			1860	A -> G (in Ref. 4; AAB92359).				A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5579C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	7.341	0.620930	0.14193	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.61859	0.07;0.07;0.07	5.38	3.58	0.41010	.	1.373100	0.04548	N	0.389265	T	0.47764	0.1463	L	0.31065	0.9	0.23851	N	0.996662	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.30592	-0.9973	10	0.25106	T	0.35	.	9.5549	0.39332	0.1807:0.0:0.8193:0.0	.	1849;1860	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1795;1849;1860	ENSP00000365427:A1795V;ENSP00000321618:A1849V;ENSP00000365441:A1860V	ENSP00000321618:A1849V	A	-	2	0	CACNA1F	48949144	0.071000	0.21146	0.075000	0.20258	0.095000	0.18619	0.909000	0.28558	0.535000	0.28714	0.594000	0.82650	GCG		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		7	7	0	0	0	1	0	7	7					A	49062200	G	A	49062200	3	1	113	1	0	0	0	0	1	0	0	0	2543	1087	38	1	362	1	CACNA1F	23	49062200	Missense_Mutation	SNP	G	TCGA-SP-A6QJ-01A-11D-A35I-08		49062200	106208360	13	2058										
HUWE1	10075	broad.mit.edu	37	chrX	53602646	53602646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tatcaaagtcactgctctgaCgcgtaagtgaccggtactgc	10	11	3	2	rs200650762		TCGA-SP-A6QJ-01A-11D-A35I-08	TCGA-SP-A6QJ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75f94b37-99fd-4a05-88af-89a284b000b5	c80d68e4-25c6-4f27-bbac-f615d0e4ab59	g.chrX:53602646C>A	ENST00000342160.3	-	44	6444	c.5987G>T	c.(5986-5988)cGt>cTt	p.R1996L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1996L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1996					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCTCTGACGCGTAAGTGA	0.443																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(5986-5988)cGt>cTt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							120	93	102					X																	53602646		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53602646C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5987G>T	X.37:g.53602646C>A	ENSP00000340648:p.Arg1996Leu					HUWE1_ENST00000262854.6_Missense_Mutation_p.R1996L	p.R1996L			Q7Z6Z7	HUWE1_HUMAN			44	6444	-			1996					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.5987G>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592679	0.66219	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38887	1.11;1.11	5.43	5.43	0.79202	.	0.335242	0.26851	N	0.022163	T	0.44414	0.1292	N	0.24115	0.695	0.52501	D	0.999953	D;D	0.57899	0.967;0.981	P;P	0.55112	0.592;0.769	T	0.27226	-1.0080	10	0.30854	T	0.27	.	17.0172	0.86422	0.0:1.0:0.0:0.0	.	1996;1996	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	L	1996	ENSP00000340648:R1996L;ENSP00000262854:R1996L	ENSP00000262854:R1996L	R	-	2	0	HUWE1	53619371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.614000	0.67695	2.281000	0.76405	0.600000	0.82982	CGT		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		24	34	1	0	2.39556e-15	1	2.59519e-15	24	34					A	53602646	C	A	53602646	3	1	113	1	0	0	0	0	1	0	0	0	7461	536	19	5	7297	5	HUWE1	23	53602646	Missense_Mutation	SNP	C	TCGA-SP-A6QJ-01A-11D-A35I-08	4540446	53602646	101667914	14	2059										
LRP8	7804	broad.mit.edu	37	chr1	53732212	53732212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	ggcaacttccacatctagtgCcacgacattcttgagcatgg	9	12	2	1			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr1:53732212C>T	ENST00000306052.6	-	9	1461	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	LRP8_ENST00000354412.3_Missense_Mutation_p.A325T|LRP8_ENST00000465675.1_Missense_Mutation_p.A7T|LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T|RP4-784A16.1_ENST00000432653.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	454					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ACATCTAGTGCCACGACATTC	0.542																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1360-1362)Gca>Aca		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							208	163	178					1																	53732212		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53732212C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1360G>A	1.37:g.53732212C>T	ENSP00000303634:p.Ala454Thr					LRP8_ENST00000465675.1_Missense_Mutation_p.A7T|LRP8_ENST00000371454.2_Missense_Mutation_p.A454T|LRP8_ENST00000354412.3_Missense_Mutation_p.A325T|LRP8_ENST00000347547.2_Missense_Mutation_p.A284T	p.A454T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			9	1461	-			454					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.1360G>A	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.351959|5.351959	0.95830|0.95830	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547|ENST00000475501	D;D;D;D;D|.	0.91843|.	-2.92;-2.92;-2.92;-2.92;-2.92|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	.|.	.|.	.|.	.|.	T|.	0.74520|.	0.3727|.	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	P;D;P;D;P;D|.	0.59357|.	0.948;0.983;0.936;0.967;0.942;0.985|.	P;P;P;P;P;P|.	0.61003|.	0.723;0.48;0.882;0.606;0.629;0.723|.	T|.	0.75382|.	-0.3337|.	9|.	0.87932|.	D|.	0|.	.|.	13.5527|13.5527	0.61740|0.61740	0.1555:0.8445:0.0:0.0|0.1555:0.8445:0.0:0.0	.|.	7;325;284;454;454;7|.	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15|.	.;.;.;.;LRP8_HUMAN;.|.	T|X	454;454;7;325;284|142	ENSP00000303634:A454T;ENSP00000360509:A454T;ENSP00000437009:A7T;ENSP00000346391:A325T;ENSP00000334522:A284T|.	ENSP00000303634:A454T|.	A|W	-|-	1|3	0|0	LRP8|LRP8	53504800|53504800	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	4.633000|4.633000	0.61318|0.61318	2.620000|2.620000	0.88729|0.88729	0.563000|0.563000	0.77884|0.77884	GCA|TGG		0.542	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		3	43	0	0	0	1	0	3	43					T	53732212	C	T	53732212	3	4	114	1	0	0	0	0	1	0	0	0	8963	739	26	3	1575	3	LRP8	1	53732212	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		53732212	195518409	1	2060										
PDE4DIP	9659	broad.mit.edu	37	chr1	144863392	144863392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	actggagggactcaaagagcTgctgtttctcttcacactgt	10	10	3	1			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr1:144863392T>G	ENST00000369354.3	-	37	6200	c.6011A>C	c.(6010-6012)cAg>cCg	p.Q2004P	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2089P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2140P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2004					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCAAAGAGCTGCTGTTTCTC	0.532			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6418-6420)cAg>cCg		phosphodiesterase 4D interacting protein							194	185	188					1																	144863392		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863392T>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6011A>C	1.37:g.144863392T>G	ENSP00000358360:p.Gln2004Pro					RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2004P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1898P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2089P	p.Q2140P			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6457	-			2004					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6419A>C	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.86|15.86	2.958845|2.958845	0.53400|0.53400	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01821|.	4.62;4.72;4.72;4.73;4.73|.	4.83|4.83	3.68|3.68	0.42216|0.42216	.|.	.|.	.|.	.|.	.|.	T|T	0.47930|0.47930	0.1472|0.1472	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.56521|.	0.965;0.976|.	P;P|.	0.53649|.	0.731;0.637|.	T|T	0.47661|0.47661	-0.9100|-0.9100	9|5	0.62326|.	D|.	0.03|.	.|.	9.1081|9.1081	0.36710|0.36710	0.0:0.0943:0.0:0.9057|0.0:0.0943:0.0:0.9057	.|.	1898;2004|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	P|R	1898;2004;2004;2089;2140|161	ENSP00000327209:Q1898P;ENSP00000358360:Q2004P;ENSP00000358363:Q2004P;ENSP00000435654:Q2089P;ENSP00000358366:Q2140P|.	ENSP00000327209:Q1898P|.	Q|S	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143574749|143574749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.373000|1.373000	0.34272|0.34272	1.948000|1.948000	0.56530|0.56530	0.397000|0.397000	0.26171|0.26171	CAG|AGC		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	166	0	0	0	1	0	8	166					G	144863392	T	G	144863392	3	3	114	1	0	0	0	0	1	0	0	0	11643	1580	55	5	1061	5	PDE4DIP	1	144863392	Missense_Mutation	SNP	T	TCGA-SP-A6QK-01A-11D-A35I-08	91131180	144863392	104387229	2	2061										
PHF7	51533	broad.mit.edu	37	chr3	52456806	52456806	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	ctcattctgtgtgctacatgCggatcccacggaacccacag	9	14	2	0			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr3:52456806C>T	ENST00000327906.3	+	10	1488	c.828C>T	c.(826-828)tgC>tgT	p.C276C	PHF7_ENST00000347025.2_Silent_p.C237C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	276						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GTGCTACATGCGGATCCCACG	0.532																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(826-828)tgC>tgT		PHD finger protein 7							136	127	130					3																	52456806		2203	4300	6503	SO:0001819	synonymous_variant	51533					nucleus	zinc ion binding	g.chr3:52456806C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.828C>T	3.37:g.52456806C>T						PHF7_ENST00000478707.1_Silent_p.C276C|PHF7_ENST00000347025.2_Silent_p.C237C	p.C276C	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	10	1488	+			276					K4DI82	Silent	SNP	ENST00000327906.3	37	c.828C>T	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.820|8.820	0.937423|0.937423	0.18206|0.18206	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000454052	.|.	.|.	.|.	6.05|6.05	-4.85|-4.85	0.03142|0.03142	.|.	.|.	.|.	.|.	.|.	T|T	0.69468|0.69468	0.3114|0.3114	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.75393|0.75393	-0.3333|-0.3333	4|5	.|0.87932	.|D	.|0	-1.8269|-1.8269	14.3904|14.3904	0.66975|0.66975	0.0:0.2677:0.0:0.7323|0.0:0.2677:0.0:0.7323	.|.	.|.	.|.	.|.	V|W	236|202	.|.	.|ENSP00000399257:R202W	A|R	+|+	2|1	0|2	PHF7|PHF7	52431846|52431846	0.002000|0.002000	0.14202|0.14202	0.681000|0.681000	0.30009|0.30009	0.919000|0.919000	0.55068|0.55068	-3.021000|-3.021000	0.00642|0.00642	-0.794000|-0.794000	0.04468|0.04468	-0.794000|-0.794000	0.03295|0.03295	GCG|CGG		0.532	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		4	119	0	0	0	1	0	4	119					T	52456806	C	T	52456806	2	4	114	1	0	0	0	0	0	0	0	1	11839	776	27	1		1	PHF7	3	52456806	Silent	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		52456806	145565624	3	2062										
BBS7	55212	broad.mit.edu	37	chr4	122774228	122774228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	cccacaatgtcaaagctgtcAatacacaaaatacctttaaa	3	11	2	0			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr4:122774228A>G	ENST00000264499.4	-	8	915	c.732T>C	c.(730-732)atT>atC	p.I244I	BBS7_ENST00000506636.1_Silent_p.I244I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	244					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAAAGCTGTCAATACACAAAA	0.333									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(730-732)atT>atC		Bardet-Biedl syndrome 7							110	96	101					4																	122774228		2203	4300	6503	SO:0001819	synonymous_variant	55212	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122774228A>G	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.732T>C	4.37:g.122774228A>G						BBS7_ENST00000506636.1_Silent_p.I244I	p.I244I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			8	915	-			244					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.732T>C	CCDS3724.1																																																																																				0.333	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			14	44	0	0	0	1	0	14	44					G	122774228	A	G	122774228	2	3	114	1	0	0	0	0	0	0	0	1	1341	126	5	4		4	BBS7	4	122774228	Silent	SNP	A	TCGA-SP-A6QK-01A-11D-A35I-08		122774228	68380048	4	2063										
FAT1	2195	broad.mit.edu	37	chr4	187527280	187527280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	gggcgcgttgtcattgacatCggacacatcgatgttcacgg	13	10	2	1	rs554538206		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr4:187527280C>T	ENST00000441802.2	-	17	10503	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3432	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCATTGACATCGGACACATCG	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(10294-10296)Gat>Aat		FAT atypical cadherin 1							144	141	142					4																	187527280		2001	4185	6186	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187527280C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10294G>A	4.37:g.187527280C>T	ENSP00000406229:p.Asp3432Asn	HNSCC(5;0.00058)					p.D3432N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			17	10503	-			3432			Cadherin 31.			Missense_Mutation	SNP	ENST00000441802.2	37	c.10294G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427974	0.83667	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03468	3.92	5.56	5.56	0.83823	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11299	-1.0593	10	0.87932	D	0	.	19.5318	0.95232	0.0:1.0:0.0:0.0	.	3432	Q14517	FAT1_HUMAN	N	3432;3434	ENSP00000406229:D3432N	ENSP00000260147:D3434N	D	-	1	0	FAT1	187764274	1.000000	0.71417	0.979000	0.43373	0.018000	0.09664	7.625000	0.83145	2.620000	0.88729	0.462000	0.41574	GAT		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	96	0	0	0	1	0	9	96					T	187527280	C	T	187527280	3	4	114	1	0	0	0	0	1	0	0	0	5689	884	31	2	3516	2	FAT1	4	187527280	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08	64753052	187527280	3626996	5	2064										
NCOA7	135112	broad.mit.edu	37	chr6	126210125	126210125	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	gtcctctgtacaggcctggaGaatgggaagacctggcttca	13	10	2	2			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr6:126210125G>C	ENST00000368357.3	+	10	1277	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q|NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	309					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAGGCCTGGAGAATGGGAAGA	0.408																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(925-927)Gaa>Caa		nuclear receptor coactivator 7							96	100	98					6																	126210125		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210125G>C	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.925G>C	6.37:g.126210125G>C	ENSP00000357341:p.Glu309Gln					NCOA7_ENST00000392477.2_Missense_Mutation_p.E309Q|NCOA7_ENST00000229634.9_Missense_Mutation_p.E194Q	p.E309Q	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	10	1277	+			309					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.925G>C	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027791	0.93518	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.35421	2.42;2.42;2.59;1.31	5.7	5.7	0.88788	.	0.098474	0.64402	D	0.000002	T	0.45377	0.1339	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.96	T	0.37596	-0.9699	10	0.59425	D	0.04	3.7302	20.2246	0.98337	0.0:0.0:1.0:0.0	.	298;298;309	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	Q	309;309;194;107	ENSP00000357341:E309Q;ENSP00000376269:E309Q;ENSP00000229634:E194Q;ENSP00000389186:E107Q	ENSP00000229634:E194Q	E	+	1	0	NCOA7	126251818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.820000	0.99359	2.861000	0.98227	0.655000	0.94253	GAA		0.408	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		4	180	0	0	0	1	0	4	180					C	126210125	G	C	126210125	3	2	114	1	0	0	0	0	1	0	0	0	10234	943	33	5	955	5	NCOA7	6	126210125	Missense_Mutation	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08		126210125	44904942	6	2065										
ZNF484	83744	broad.mit.edu	37	chr9	95609713	95609713	+	Frame_Shift_Del	DEL	T	T	-													0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	tgatgcacatggagttgtgaTtttttaataaaggatttccc							TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr9:95609713delT	ENST00000375495.3	-	5	1504	c.1356delA	c.(1354-1356)aaafs	p.K452fs	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Frame_Shift_Del_p.K416fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GGAGTTGTGATTTTTTAATAA	0.383																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1246-1248)aafs		zinc finger protein 484							76	76	76					9																	95609713		2203	4300	6503	SO:0001589	frameshift_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609713delT	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1356delA	9.37:g.95609713delT	ENSP00000364645:p.Lys452fs					ZNF484_ENST00000375495.3_Frame_Shift_Del_p.K452fs|ZNF484_ENST00000395506.3_Frame_Shift_Del_p.K454fs|ZNF484_ENST00000332591.6_Frame_Shift_Del_p.K416fs|ANKRD19P_ENST00000473204.1_RNA	p.K416fs	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1340	-			452					B1AL89|B4DRI2	Frame_Shift_Del	DEL	ENST00000375495.3	37	c.1248delA	CCDS35066.1																																																																																				0.383	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		19	83						19	83	---	---	---	---	-	95609713	T	-	95609713	7	5	114	1	0	1	0	1	0	0	0	0	17934	1490	52	0	1206	0	ZNF484	9	95609713	Frame_Shift_Del	DEL	T	TCGA-SP-A6QK-01A-11D-A35I-08		95609713	45603718	7	2066										
SVEP1	79987	broad.mit.edu	37	chr9	113242030	113242030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	tgaacccgtggtttgcaaaaCgtttttctagaaaatgttgg	10	6	1	2			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr9:113242030C>T	ENST00000401783.2	-	13	2708	c.2372G>A	c.(2371-2373)cGt>cAt	p.R791H	SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R768H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	791					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTTGCAAAACGTTTTTCTAG	0.343																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(2371-2373)cGt>cAt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							166	160	162					9																	113242030		1826	4096	5922	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113242030C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2372G>A	9.37:g.113242030C>T	ENSP00000384917:p.Arg791His					SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.R791H|SVEP1_ENST00000374469.1_Missense_Mutation_p.R768H|SVEP1_ENST00000374461.1_Missense_Mutation_p.R768H	p.R791H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			13	2708	-			791					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2372G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331678	0.95733	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.79247	-1.08;-1.08;-1.25;1.08	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.997;0.998	D	0.87519	0.2445	10	0.51188	T	0.08	.	19.9762	0.97309	0.0:1.0:0.0:0.0	.	791;791;791	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	H	791;768;791;768	ENSP00000384917:R791H;ENSP00000363593:R768H;ENSP00000304118:R791H;ENSP00000363585:R768H	ENSP00000304118:R791H	R	-	2	0	SVEP1	112281851	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.999000	0.76283	2.820000	0.97059	0.650000	0.86243	CGT		0.343	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				49	132	0	0	0	1	0	49	132					T	113242030	C	T	113242030	3	4	114	1	0	0	0	0	1	0	0	0	15417	536	19	1	8487	1	SVEP1	9	113242030	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08	17632317	113242030	27971401	8	2067										
RET	5979	broad.mit.edu	37	chr10	43607567	43607567	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	atgtggccgaggaggcgggcTgccccctgtcctgtgcagtc	16	13	0	0	rs377767389		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr10:43607567T>A	ENST00000355710.3	+	8	1775	c.1543T>A	c.(1543-1545)Tgc>Agc	p.C515S	RET_ENST00000340058.5_Missense_Mutation_p.C515S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	515					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGAGGCGGGCTGCCCCCTGTC	0.667		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1543-1545)Tgc>Agc		ret proto-oncogene	Sunitinib(DB01268)						61	57	58					10																	43607567		2202	4296	6498	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43607567T>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1543T>A	10.37:g.43607567T>A	ENSP00000347942:p.Cys515Ser					RET_ENST00000340058.5_Missense_Mutation_p.C515S	p.C515S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			8	1775	+		Ovarian(717;0.0423)	515					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1543T>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253583	0.59212	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98329	-1.14;-4.87;-1.25	5.73	5.73	0.89815	.	0.307999	0.41500	D	0.000867	D	0.97823	0.9285	M	0.79258	2.445	0.58432	D	0.999998	B;P;P	0.45715	0.349;0.605;0.865	B;B;P	0.46026	0.108;0.13;0.501	D	0.97682	1.0173	10	0.32370	T	0.25	.	16.0201	0.80478	0.0:0.0:0.0:1.0	.	261;515;515	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	515;32;515	ENSP00000347942:C515S;ENSP00000419080:C32S;ENSP00000344798:C515S	ENSP00000344798:C515S	C	+	1	0	RET	42927573	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.078000	0.57606	2.190000	0.69967	0.455000	0.32223	TGC		0.667	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		6	11	0	0	0	1	0	6	11					A	43607567	T	A	43607567	3	1	114	1	0	0	0	0	1	0	0	0	13235	1580	55	5	1573	5	RET	10	43607567	Missense_Mutation	SNP	T	TCGA-SP-A6QK-01A-11D-A35I-08		43607567	91927180	9	2068										
RET	5979	broad.mit.edu	37	chr10	43609948	43609948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	atccactgtgcgacgagctgTgccgcacggtgatcgcagcc	13	14	0	1	rs377767409|rs377767408|rs75076352|rs121913310		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr10:43609948T>C	ENST00000355710.3	+	11	2132	c.1900T>C	c.(1900-1902)Tgc>Cgc	p.C634R	RET_ENST00000340058.5_Missense_Mutation_p.C634R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	634			C -> CHELC (in MEN2A). {ECO:0000269|PubMed:9097963}.|C -> F (in MEN2A and pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|C -> G (in MEN2A and pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:8103403}.|C -> S (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8099202}.|C -> W (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816}.|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202}.|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGACGAGCTGTGCCGCACGGT	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	25	Complex - deletion inframe(17)|Substitution - Missense(8)	p.E632_T636>SS(14)|p.C634R(8)|p.D631_I638>A(1)|p.E632_C634>L(1)|p.E632_A640>VRP(1)	thyroid(22)|adrenal_gland(3)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM930644|CM941241|CM941242	RET	M	rs75076352	c.(1900-1902)Tgc>Cgc		ret proto-oncogene	Sunitinib(DB01268)						131	81	98					10																	43609948		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43609948T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1900T>C	10.37:g.43609948T>C	ENSP00000347942:p.Cys634Arg					RET_ENST00000340058.5_Missense_Mutation_p.C634R	p.C634R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			11	2132	+		Ovarian(717;0.0423)	634		C -> CHELC (in MEN2A).|C -> F (in MEN2A and pheochromocytoma).|C -> G (in MEN2A and pheochromocytoma).|C -> R (in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma).|C -> S (in MEN2A, pheochromocytoma and MTC; familial form).|C -> W (in MEN2A, pheochromocytoma and MTC; familial form).|C -> Y (in MEN2A, pheochromocytoma and MTC; familial form).|CR -> WG (in MEN2A).|ELC -> DVR (in MEN2A).			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1900T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086585	0.76642	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.99369	-1.24;-5.78;-1.35	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.79805	2.47	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99097	1.0842	9	0.87932	D	0	.	14.0408	0.64674	0.0:0.0:0.0:1.0	.	380;634;634	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	R	634;151;634	ENSP00000347942:C634R;ENSP00000419080:C151R;ENSP00000344798:C634R	ENSP00000344798:C634R	C	+	1	0	RET	42929954	1.000000	0.71417	0.991000	0.47740	0.863000	0.49368	7.836000	0.86788	1.902000	0.55061	0.379000	0.24179	TGC		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		11	27	0	0	0	1	0	11	27					C	43609948	T	C	43609948	3	2	114	1	0	0	0	0	1	0	0	0	13235	1696	59	4	1942	4	RET	10	43609948	Missense_Mutation	SNP	T	TCGA-SP-A6QK-01A-11D-A35I-08	2381	43609948	91924799	10	2069										
RASA3	22821	broad.mit.edu	37	chr13	114782724	114782724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	cgtgctcacctcctcgatggCgggcttcagggtgacatgca	13	13	2	1	rs370142174		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr13:114782724C>T	ENST00000334062.7	-	12	1316	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	RASA3_ENST00000389544.4_Missense_Mutation_p.A367T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	399	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCTCGATGGCGGGCTTCAGG	0.622											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1195-1197)Gcc>Acc		RAS p21 protein activator 3		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	146	117	127		1195	-0.3	0.9	13		127	0,8600		0,0,4300	no	missense	RASA3	NM_007368.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	399/835	114782724	1,13005	2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114782724C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1195G>A	13.37:g.114782724C>T	ENSP00000335029:p.Ala399Thr		OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1460	RASA3_ENST00000389544.4_Missense_Mutation_p.A367T	p.A399T	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		12	1316	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	399			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1195G>A	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	8.051	0.766071	0.15983	2.27E-4	0.0	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.79141	-1.24;-1.24	4.86	-0.293	0.12835	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.344807	0.31648	N	0.007281	T	0.43634	0.1256	N	0.01228	-0.945	0.80722	D	1	B	0.02656	0.0	B	0.13407	0.009	T	0.09862	-1.0655	9	.	.	.	.	8.739	0.34545	0.0:0.2969:0.0:0.7031	.	399	Q14644	RASA3_HUMAN	T	399;367	ENSP00000335029:A399T;ENSP00000374195:A367T	.	A	-	1	0	RASA3	113800826	0.943000	0.32029	0.862000	0.33874	0.169000	0.22640	0.809000	0.27168	-0.301000	0.08882	-0.136000	0.14681	GCC		0.622	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		4	126	0	0	0	1	0	4	126					T	114782724	C	T	114782724	3	4	114	1	0	0	0	0	1	0	0	0	13062	768	27	1	1361	1	RASA3	13	114782724	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		114782724	387154	11	2070										
KCTD5	54442	broad.mit.edu	37	chr16	2732747	2732747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	cagaccctgtgccgggacccGaaatccttcctgtaccgctt	9	16	0	1			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr16:2732747G>A	ENST00000301738.4	+	1	272	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KCTD5_ENST00000564195.1_Silent_p.P66P	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	66	BTB.				protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCCGGGACCCGAAATCCTTCC	0.687																																					Ovarian(56;981 1456 4301 50892)	ENST00000301738.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(196-198)ccG>ccA		potassium channel tetramerization domain containing 5							46	44	45					16																	2732747		2198	4300	6498	SO:0001819	synonymous_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2732747G>A	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"potassium channel tetramerisation domain containing 5"			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.198G>A	16.37:g.2732747G>A						KCTD5_ENST00000564195.1_Silent_p.P66P	p.P66P	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN			1	272	+			66			BTB.		D3DU96	Silent	SNP	ENST00000301738.4	37	c.198G>A	CCDS10475.1																																																																																				0.687	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		13	30	0	0	0	1	0	13	30					A	2732747	G	A	2732747	2	1	114	1	0	0	0	0	0	0	0	1	8112	1045	37	2		2	KCTD5	16	2732747	Silent	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08		2732747	87622006	12	2071										
ADAD2	161931	broad.mit.edu	37	chr16	84224883	84224883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	cgacgacggcagtcgtaggaAgccccgcctggctgcatcgt	14	14	0	0	rs199747379		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr16:84224883A>G	ENST00000315906.5	+	1	99	c.47A>G	c.(46-48)aAg>aGg	p.K16R	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000268624.3_Missense_Mutation_p.K16R	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	16					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTCGTAGGAAGCCCCGCCTG	0.716																																						ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(46-48)aAg>aGg		adenosine deaminase domain containing 2							9	11	10					16																	84224883		1971	3919	5890	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84224883A>G	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.47A>G	16.37:g.84224883A>G	ENSP00000325153:p.Lys16Arg					ADAD2_ENST00000567413.1_3'UTR|ADAD2_ENST00000315906.5_Missense_Mutation_p.K16R	p.K16R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			1	140	+			16					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.47A>G	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	A	8.868	0.948607	0.18356	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.26223	2.12;1.75	4.82	1.31	0.21738	.	.	.	.	.	T	0.12987	0.0315	N	0.12182	0.205	0.19300	N	0.999972	B;B	0.18013	0.022;0.025	B;B	0.20184	0.011;0.028	T	0.32798	-0.9893	9	0.28530	T	0.3	-6.7057	6.6155	0.22774	0.6921:0.0:0.3079:0.0	.	16;16	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	16	ENSP00000325153:K16R;ENSP00000268624:K16R	ENSP00000268624:K16R	K	+	2	0	ADAD2	82782384	0.995000	0.38212	0.981000	0.43875	0.059000	0.15707	0.362000	0.20284	0.006000	0.14734	-0.375000	0.07067	AAG		0.716	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		6	6	0	0	0	1	0	6	6					G	84224883	A	G	84224883	3	3	114	1	0	0	0	0	1	0	0	0	232	72	3	4	49	4	ADAD2	16	84224883	Missense_Mutation	SNP	A	TCGA-SP-A6QK-01A-11D-A35I-08	81492136	84224883	6129870	13	2072										
MYO15A	51168	broad.mit.edu	37	chr17	18023292	18023293	+	Frame_Shift_Ins	INS	-	-	C													0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	ggtggggacgaggccatctaINScccccccgaggtgccctatt							TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr17:18023292_18023293insC	ENST00000205890.5	+	2	1516_1517	c.1178_1179insC	c.(1177-1182)taccccfs	p.YP393fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	393					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGCCATCTACCCCCCCGAGG	0.619																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1177-1179)tccfs		myosin XVA				4,3628		0,4,1812						5.4	1			79	3,7851		0,3,3924	no	frameshift	MYO15A	NM_016239.3		0,7,5736	A1A1,A1R,RR		0.0382,0.1101,0.0609				7,11479				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023292_18023293insC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1185dupC	17.37:g.18023299_18023299dupC	ENSP00000205890:p.Tyr393fs						p.S393fs	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1516_1517	+	all_neural(463;0.228)		393			Myosin head-like.		B4DFC7	Frame_Shift_Ins	INS	ENST00000205890.5	37	c.1178_1179insC	CCDS42271.1																																																																																				0.619	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	141						7	141	---	---	---	---	C	18023293	-	C	18023292	7	5	114	1	0	1	1	0	0	0	0	0	10063	391	14	0	1180	0	MYO15A	17	18023292	Frame_Shift_Ins	INS	-	TCGA-SP-A6QK-01A-11D-A35I-08		18023292	63171918	14	2073										
KLK12	43849	broad.mit.edu	37	chr19	51534095	51534095	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	gcacacaccatgttgctcgtGattctcccgggatacacacc	8	15	1	1			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chr19:51534095G>A	ENST00000525263.1	-	4	659	c.540C>T	c.(538-540)atC>atT	p.I180I	KLK12_ENST00000319590.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Missense_Mutation_p.H94Y|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Silent_p.I180I			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	180	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		TGTTGCTCGTGATTCTCCCGG	0.622																																						ENST00000529888.1																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(280-282)Cac>Tac		kallikrein-related peptidase 12							162	148	153					19																	51534095		2203	4300	6503	SO:0001819	synonymous_variant	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51534095G>A		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"Kallikreins"	6360	protein-coding gene	gene with protein product		605539	"kallikrein 12"			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.540C>T	19.37:g.51534095G>A						CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000525263.1_Silent_p.I180I|KLK12_ENST00000319590.4_Silent_p.I180I|KLK12_ENST00000250351.4_Silent_p.I180I|KLK12_ENST00000250352.11_Silent_p.I70I	p.H94Y	NM_145895.1	NP_665902.1	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	4	355	-		all_neural(266;0.026)	0			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.280C>T	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	g	6.807	0.517870	0.13005	.	.	ENSG00000186474	ENST00000529888	D	0.83075	-1.68	4.37	2.02	0.26589	.	.	.	.	.	T	0.72645	0.3486	.	.	.	0.80722	D	1	B	0.24043	0.096	B	0.21708	0.036	T	0.67173	-0.5737	8	0.41790	T	0.15	.	6.6077	0.22734	0.1183:0.1989:0.6828:0.0	.	94	Q9UKR2	.	Y	94	ENSP00000434036:H94Y	ENSP00000434036:H94Y	H	-	1	0	KLK12	56225907	1.000000	0.71417	0.990000	0.47175	0.228000	0.25075	1.116000	0.31221	1.009000	0.39289	0.305000	0.20034	CAC		0.622	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		61	128	0	0	0	1	0	61	128					A	51534095	G	A	51534095	2	1	114	1	0	0	0	0	0	0	0	1	8400	1290	45	3		3	KLK12	19	51534095	Silent	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08		51534095	7594888	15	2074										
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs59641550		TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			7	537	0	0	0	1	0	7	537					G	49355893	C	G	49355893	3	3	114	1	0	0	0	0	1	0	0	0	6190	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-SP-A6QK-01A-11D-A35I-08		49355893	105914667	16	2075										
IL13RA1	3597	broad.mit.edu	37	chrX	117892071	117892071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	aaacatctttagagaaggccAatactttggttgttcctttg	8	7	1	1			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:117892071A>G	ENST00000371666.3	+	5	609	c.542A>G	c.(541-543)cAa>cGa	p.Q181R	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	181	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAGAAGGCCAATACTTTGGT	0.348																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(541-543)cAa>cGa		interleukin 13 receptor, alpha 1							128	117	121					X																	117892071		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117892071A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"Interleukins and interleukin receptors", "CD molecules"	5974	protein-coding gene	gene with protein product	"IL13 receptor alpha-1 chain", "CD213a1 antigen"	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.542A>G	X.37:g.117892071A>G	ENSP00000360730:p.Gln181Arg					IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q181R|IL13RA1_ENST00000481868.1_3'UTR	p.Q181R	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			5	609	+			181					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.542A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732540	0.30684	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.94613	-3.47;-3.47	5.59	5.59	0.84812	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.579960	0.17836	N	0.160374	D	0.93900	0.8048	L	0.48642	1.525	0.80722	D	1	D;D;P	0.54772	0.968;0.968;0.945	P;P;P	0.56434	0.798;0.798;0.781	D	0.90796	0.4690	10	0.11794	T	0.64	-7.8765	11.2154	0.48823	1.0:0.0:0.0:0.0	.	181;181;181	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	R	181	ENSP00000360730:Q181R;ENSP00000360705:Q181R	ENSP00000360705:Q181R	Q	+	2	0	IL13RA1	117776099	1.000000	0.71417	0.774000	0.31636	0.013000	0.08279	4.194000	0.58393	1.991000	0.58162	0.483000	0.47432	CAA		0.348	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		32	119	0	0	0	1	0	32	119					G	117892071	A	G	117892071	3	3	114	1	0	0	0	0	1	0	0	0	7629	130	5	4	560	4	IL13RA1	23	117892071	Missense_Mutation	SNP	A	TCGA-SP-A6QK-01A-11D-A35I-08	68536178	117892071	37378489	17	2076										
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.111111111111111	2	1	1.95135135135135	4.87837837837838	1.21959459459459	1	1	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-SP-A6QK-01A-11D-A35I-08	TCGA-SP-A6QK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8faaac2-d88c-41c9-aa3f-c073a574a4c8	072a0cc2-5721-4b9a-a19c-dbc4f36876fd	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128	97	107					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		4	99	0	0	0	1	0	4	99					A	153134383	G	A	153134383	3	1	114	1	0	0	0	0	1	0	0	0	8588	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-SP-A6QK-01A-11D-A35I-08	35242312	153134383	2136177	18	2077										
C1orf106	55765	broad.mit.edu	37	chr1	200881013	200881013	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	ggccctgcttacgaggaggaGggcactcccctgcgctacca							TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr1:200881013delG	ENST00000367342.4	+	9	1847	c.1647delG	c.(1645-1647)gagfs	p.E549fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.E464fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	549										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ACGAGGAGGAGGGCACTCCCC	0.741																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1645-1647)gafs		chromosome 1 open reading frame 106							4	5	5					1																	200881013		1936	3864	5800	SO:0001589	frameshift_variant	55765							g.chr1:200881013delG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1647delG	1.37:g.200881013delG	ENSP00000356311:p.Glu549fs					C1orf106_ENST00000413687.2_Frame_Shift_Del_p.E464fs	p.E549fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1847	+			549					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1647delG																																																																																					0.741	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		2	4						2	4	---	---	---	---	-	200881013	G	-	200881013	7	5	115	1	0	1	0	1	0	0	0	0	1980	991	35	0	1681	0	C1orf106	1	200881013	Frame_Shift_Del	DEL	G	TCGA-SQ-A6I4-01A-11D-A35I-08		200881013	48369608	1	2078										
SOCS5	9655	broad.mit.edu	37	chr2	46986916	46986916	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaagaggactacctcttctCtgtgagcttccgccgctaca	9	14	2	2			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr2:46986916C>A	ENST00000306503.5	+	2	1419	c.1247C>A	c.(1246-1248)tCt>tAt	p.S416Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	416	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACCTCTTCTCTGTGAGCTTC	0.527																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1246-1248)tCt>tAt		suppressor of cytokine signaling 5							82	80	80					2																	46986916		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986916C>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1247C>A	2.37:g.46986916C>A	ENSP00000305133:p.Ser416Tyr					SOCS5_ENST00000394861.2_Missense_Mutation_p.S416Y	p.S416Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1419	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	416			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1247C>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078332	0.76528	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89617	-2.54;-2.54	5.43	5.43	0.79202	SH2 motif (4);	0.051815	0.85682	D	0.000000	D	0.96300	0.8793	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96928	0.9679	10	0.87932	D	0	-20.6106	19.0206	0.92912	0.0:1.0:0.0:0.0	.	416	O75159	SOCS5_HUMAN	Y	416	ENSP00000305133:S416Y;ENSP00000378330:S416Y	ENSP00000305133:S416Y	S	+	2	0	SOCS5	46840420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	TCT		0.527	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			24	67	1	0	1.55469e-16	1	1.69603e-16	24	67					A	46986916	C	A	46986916	3	1	115	1	0	0	0	0	1	0	0	0	14917	913	32	5	1249	5	SOCS5	2	46986916	Missense_Mutation	SNP	C	TCGA-SQ-A6I4-01A-11D-A35I-08		46986916	196212457	2	2079										
ANK1	286	broad.mit.edu	37	chr8	41582014	41582014	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	tggctcctctgttgaggagcAactgggccacgttgaggttc							TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr8:41582014delA	ENST00000347528.4	-	7	754	c.671delT	c.(670-672)ttgfs	p.L226fs	ANK1_ENST00000289734.7_Frame_Shift_Del_p.L226fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.L259fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.L226fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000396942.1_Frame_Shift_Del_p.L226fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.L226fs	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	226	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTGAGGAGCAACTGGGCCAC	0.587																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(670-672)tgfs		ankyrin 1, erythrocytic							36	33	34					8																	41582014		2203	4300	6503	SO:0001589	frameshift_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41582014delA	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.671delT	8.37:g.41582014delA	ENSP00000339620:p.Leu226fs					ANK1_ENST00000289734.7_Frame_Shift_Del_p.L226fs|ANK1_ENST00000347528.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000352337.4_Frame_Shift_Del_p.L226fs|ANK1_ENST00000379758.2_Frame_Shift_Del_p.L226fs|ANK1_ENST00000265709.8_Frame_Shift_Del_p.L259fs|ANK1_ENST00000396945.1_Frame_Shift_Del_p.L226fs	p.L226fs			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		7	754	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	226			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Frame_Shift_Del	DEL	ENST00000347528.4	37	c.671delT	CCDS6119.1																																																																																				0.587	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		2	4						2	4	---	---	---	---	-	41582014	A	-	41582014	7	5	115	1	0	1	0	1	0	0	0	0	620	131	5	0	5472	0	ANK1	8	41582014	Frame_Shift_Del	DEL	A	TCGA-SQ-A6I4-01A-11D-A35I-08		41582014	104782008	3	2080										
CD82	3732	broad.mit.edu	37	chr11	44640634	44640634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtccatctgcttgtgccgGcacgtccattccgaagacta	9	14	1	1			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr11:44640634G>A	ENST00000227155.4	+	10	1010	c.762G>A	c.(760-762)cgG>cgA	p.R254R	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	254						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						GCTTGTGCCGGCACGTCCATT	0.652																																						ENST00000227155.4																			0				large_intestine(1)|ovary(1)	2						c.(760-762)cgG>cgA		CD82 molecule							148	124	132					11																	44640634		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44640634G>A	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"CD molecules", "Tetraspanins"	6210	protein-coding gene	gene with protein product	"suppression of tumorigenicity 6", "R2 leukocyte antigen"	600623	"kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))", "CD82 antigen"	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.762G>A	11.37:g.44640634G>A						CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.R229R	p.R254R	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN			10	1010	+			254					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.762G>A	CCDS7909.1																																																																																				0.652	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			4	38	0	0	0	1	0	4	38					A	44640634	G	A	44640634	2	1	115	1	0	0	0	0	0	0	0	1	3040	1190	42	3		3	CD82	11	44640634	Silent	SNP	G	TCGA-SQ-A6I4-01A-11D-A35I-08		44640634	90365882	4	2081										
ARHGEF17	9828	broad.mit.edu	37	chr11	73021126	73021126	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcagtttcctgcgctcagaCctttcagagctgagggtccg	11	13	3	3	rs145219831	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr11:73021126C>T	ENST00000263674.3	+	1	1793	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	481					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGCTCAGACCTTTCAGAGC	0.577																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1441-1443)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 17		C		1,4399	2.1+/-5.4	0,1,2199	64	71	68		1443	0.5	1	11	dbSNP_134	68	5,8581	4.3+/-15.6	0,5,4288	yes	coding-synonymous	ARHGEF17	NM_014786.3		0,6,6487	TT,TC,CC		0.0582,0.0227,0.0462		481/2064	73021126	6,12980	2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021126C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1443C>T	11.37:g.73021126C>T							p.D481D	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1793	+			481					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1443C>T	CCDS8221.1																																																																																				0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	22	0	0	0	1	0	4	22					T	73021126	C	T	73021126	2	4	115	1	0	0	0	0	0	0	0	1	900	506	18	3		3	ARHGEF17	11	73021126	Silent	SNP	C	TCGA-SQ-A6I4-01A-11D-A35I-08	28380492	73021126	61985390	5	2082										
ANGEL1	23357	broad.mit.edu	37	chr14	77275462	77275462	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggccctcaaagggccagaTggaagcctcttcctggggca	13	13	2	1			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr14:77275462T>C	ENST00000251089.2	-	2	701	c.589A>G	c.(589-591)Atc>Gtc	p.I197V	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	197										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGGGCCAGATGGAAGCCTCT	0.612																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(589-591)Atc>Gtc		angel homolog 1 (Drosophila)							42	40	40					14																	77275462		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77275462T>C	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.589A>G	14.37:g.77275462T>C	ENSP00000251089:p.Ile197Val						p.I197V	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	701	-			197					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.589A>G	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	T	3.428	-0.116698	0.06838	.	.	ENSG00000013523	ENST00000251089	T	0.21543	2.0	5.6	-3.43	0.04810	.	1.450350	0.03704	N	0.249089	T	0.08714	0.0216	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.11485	T	0.65	0.0062	9.1402	0.36899	0.0:0.5581:0.1255:0.3164	.	197	Q9UNK9	ANGE1_HUMAN	V	197	ENSP00000251089:I197V	ENSP00000251089:I197V	I	-	1	0	ANGEL1	76345215	0.017000	0.18338	0.381000	0.26106	0.907000	0.53573	0.106000	0.15354	-0.707000	0.05022	-1.148000	0.01847	ATC		0.612	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		5	23	0	0	0	1	0	5	23					C	77275462	T	C	77275462	3	2	115	1	0	0	0	0	1	0	0	0	608	1464	51	4	1459	4	ANGEL1	14	77275462	Missense_Mutation	SNP	T	TCGA-SQ-A6I4-01A-11D-A35I-08		77275462	30074078	6	2083										
MAP2K1	5604	broad.mit.edu	37	chr15	66727443	66727457	+	In_Frame_Del	DEL	TCTTACCCAGAAGCA	TCTTACCCAGAAGCA	-													0	0	1	0	0	0	1	1	0	cgaaagcgccttgaggccttTcttacccagaagcagaaggt					rs397516790		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	ENST00000307102.5	+	2	690_704	c.159_173delTCTTACCCAGAAGCA	c.(157-174)tttcttacccagaagcag>ttg	p.53_58FLTQKQ>L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	53			F -> S (in CFC3). {ECO:0000269|PubMed:16439621}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.K57N(3)|p.K57T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTGAGGCCTTTCTTACCCAGAAGCAGAAGGTGGGA	0.553																																						ENST00000307102.5																			4	Substitution - Missense(4)	p.K57N(3)|p.K57T(1)	lung(2)|autonomic_ganglia(1)|prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20	GRCh37	CM076271	MAP2K1	M		c.(157-174)ttg>tt		mitogen-activated protein kinase kinase 1																																				SO:0001651	inframe_deletion	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66727443_66727457delTCTTACCCAGAAGCA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.159_173delTCTTACCCAGAAGCA	15.37:g.66727443_66727457delTCTTACCCAGAAGCA	ENSP00000302486:p.Phe53_Gln58delinsLeu						p.FLTQKQ53del	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			2	690_704	+			53		F -> S (in CFC syndrome).				In_Frame_Del	DEL	ENST00000307102.5	37	c.159_173delTCTTACCCAGAAGCA	CCDS10216.1																																																																																				0.553	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			15	96						15	96	---	---	---	---	-	66727457	TCTTACCCAGAAGCA	-	66727443	7	5	115	1	0	1	0	1	0	0	0	0	9236	1780	62	0	165	0	MAP2K1	15	66727443	In_Frame_Del	DEL	TCTTACCCAGAAGCA	TCGA-SQ-A6I4-01A-11D-A35I-08		66727443	35803949	7	2084										
PML	5371	broad.mit.edu	37	chr15	74336715	74336715	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgagctccatgcgccgccCtatcttggcctgctacaagc	9	16	2	1			TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr15:74336715C>G	ENST00000268058.3	+	9	2111	c.2015C>G	c.(2014-2016)cCt>cGt	p.P672R	PML_ENST00000565898.1_Missense_Mutation_p.P624R	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	672					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ATGCGCCGCCCTATCTTGGCC	0.602			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1870-1872)cCt>cGt		promyelocytic leukemia							55	56	55					15																	74336715		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336715C>G	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2015C>G	15.37:g.74336715C>G	ENSP00000268058:p.Pro672Arg					PML_ENST00000268058.3_Missense_Mutation_p.P672R	p.P624R			P29590	PML_HUMAN			8	1955	+			672					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1871C>G	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467297	0.63625	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.67171	-0.25	5.18	5.18	0.71444	.	0.000000	0.49916	D	0.000127	T	0.74839	0.3769	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76958	-0.2766	10	0.87932	D	0	-39.3202	15.543	0.76070	0.0:1.0:0.0:0.0	.	672;624	P29590;P29590-11	PML_HUMAN;.	R	672;233;655	ENSP00000268058:P672R	ENSP00000268058:P672R	P	+	2	0	PML	72123768	0.839000	0.29477	0.891000	0.34965	0.908000	0.53690	2.913000	0.48790	2.685000	0.91497	0.563000	0.77884	CCT		0.602	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		23	53	0	0	0	1	0	23	53					G	74336715	C	G	74336715	3	3	115	1	0	0	0	0	1	0	0	0	12135	681	24	5	3066	5	PML	15	74336715	Missense_Mutation	SNP	C	TCGA-SQ-A6I4-01A-11D-A35I-08	7609272	74336715	28194677	8	2085										
HP	3240	broad.mit.edu	37	chr16	72094218	72094218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaatgcaacagcgaaagacaTtgcccctactttaacactct	5	12	1	1	rs563829767		TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr16:72094218T>C	ENST00000355906.5	+	7	708	c.650T>C	c.(649-651)aTt>aCt	p.I217T	HPR_ENST00000561690.1_5'Flank|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000565574.1_Missense_Mutation_p.I158T|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HPR_ENST00000540303.2_5'Flank|HP_ENST00000357763.4_Missense_Mutation_p.I253T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCGAAAGACATTGCCCCTACT	0.453													T|||	1	0.000199681	0	0	5008	,	,		22365	0		0	False		,,,				2504	0.001					ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(649-651)aTt>aCt		haptoglobin							65	63	64					16																	72094218		1900	4120	6020	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094218T>C		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.650T>C	16.37:g.72094218T>C	ENSP00000348170:p.Ile217Thr					HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.I158T|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Missense_Mutation_p.I158T|HP_ENST00000565574.1_Missense_Mutation_p.I158T	p.I217T	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	708	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	217			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.650T>C	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	T	9.531	1.110743	0.20714	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.87966	-2.32;-2.32	5.21	5.21	0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.208186	0.40908	D	0.000986	D	0.87394	0.6166	L	0.28740	0.885	0.80722	D	1	D;D;B;P	0.71674	0.992;0.998;0.4;0.714	D;D;B;B	0.68483	0.912;0.958;0.226;0.338	D	0.85794	0.1369	10	0.35671	T	0.21	.	9.4481	0.38710	0.1583:0.0:0.0:0.8417	.	39;92;158;217	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	T	217;158;92;193	ENSP00000348170:I217T;ENSP00000381199:I158T	ENSP00000348170:I217T	I	+	2	0	HP	70651719	0.996000	0.38824	0.998000	0.56505	0.921000	0.55340	2.985000	0.49362	2.188000	0.69820	0.482000	0.46254	ATT		0.453	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		7	39	0	0	0	1	0	7	39					C	72094218	T	C	72094218	3	2	115	1	0	0	0	0	1	0	0	0	7327	1493	52	4	676	4	HP	16	72094218	Missense_Mutation	SNP	T	TCGA-SQ-A6I4-01A-11D-A35I-08		72094218	18260535	9	2086										
CCDC105	126402	broad.mit.edu	37	chr19	15121690	15121691	+	Frame_Shift_Del	DEL	CC	CC	-													0	0	1	0	0	0	1	1	0	ccaggacacacgcgttggggCcccagcatggcgcgaggcag					rs577782567	byFrequency	TCGA-SQ-A6I4-01A-11D-A35I-08	TCGA-SQ-A6I4-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7f0f4e-0379-466c-88ed-acd18efae6d4	1c3306d6-8c60-4750-a3df-72c2d355a6a4	g.chr19:15121690_15121691delCC	ENST00000292574.3	+	1	135_136	c.53_54delCC	c.(52-54)gccfs	p.A18fs	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	18						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGTTGGGGCCCCAGCATGGC	0.698														4	0.000798722	0	0.0043	5008	,	,		16937	0		0.001	False		,,,				2504	0					ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(52-54)gfs		coiled-coil domain containing 105				13,4129		6,1,2064						2.8	0			9	28,8062		8,12,4025	no	frameshift	CCDC105	NM_173482.2		14,13,6089	A1A1,A1R,RR		0.3461,0.3139,0.3352				41,12191				SO:0001589	frameshift_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121690_15121691delCC	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.53_54delCC	19.37:g.15121692_15121693delCC	ENSP00000292574:p.Ala18fs						p.A18fs	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			1	135_136	+			18					Q8N7T5|Q8NDL5	Frame_Shift_Del	DEL	ENST00000292574.3	37	c.53_54delCC	CCDS12322.1																																																																																				0.698	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		6	4						6	4	---	---	---	---	-	15121691	CC	-	15121690	7	5	115	1	0	1	0	1	0	0	0	0	2740	739	26	0	55	0	CCDC105	19	15121690	Frame_Shift_Del	DEL	CC	TCGA-SQ-A6I4-01A-11D-A35I-08		15121690	44007293	10	2087										
RBBP5	5929	broad.mit.edu	37	chr1	205070793	205070793	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	cttgttccagttgtcactctGaaggaagcaacaagatcctg	9	10	2	2			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:205070793G>C	ENST00000264515.6	-	6	708	c.567C>G	c.(565-567)ttC>ttG	p.F189L	RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	189					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGTCACTCTGAAGGAAGCAA	0.393																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(565-567)ttC>ttG		retinoblastoma binding protein 5							192	191	191					1																	205070793		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205070793G>C	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.567C>G	1.37:g.205070793G>C	ENSP00000264515:p.Phe189Leu					RBBP5_ENST00000367164.1_Missense_Mutation_p.F189L	p.F189L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		6	708	-	Breast(84;0.0505)		189					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.567C>G	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820810	0.90873	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.19806	2.12;2.12	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	M	0.64567	1.98	0.80722	D	1	P;B;P;P	0.51057	0.849;0.275;0.633;0.941	P;B;B;P	0.49421	0.61;0.164;0.417;0.577	T	0.01972	-1.1237	10	0.17369	T	0.5	.	19.6763	0.95934	0.0:0.0:1.0:0.0	.	62;224;189;189	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	L	189	ENSP00000264515:F189L;ENSP00000356132:F189L	ENSP00000264515:F189L	F	-	3	2	RBBP5	203337416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.524000	0.73791	2.744000	0.94065	0.586000	0.80456	TTC		0.393	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		117	143	0	0	0	1	0	117	143					C	205070793	G	C	205070793	3	2	116	1	0	0	0	0	1	0	0	0	13102	1281	45	5	1085	5	RBBP5	1	205070793	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		205070793	44179828	1	2088										
LBR	3930	broad.mit.edu	37	chr1	225611758	225611758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ctcttaccacttcaccatcgGcaaatttcctacttggcatt	4	14	2	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr1:225611758G>A	ENST00000338179.2	-	2	145	c.20C>T	c.(19-21)gCc>gTc	p.A7V	LBR_ENST00000272163.4_Missense_Mutation_p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	7	Tudor.				cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTCACCATCGGCAAATTTCCT	0.373																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(19-21)gCc>gTc		lamin B receptor							229	252	245					1																	225611758		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225611758G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.20C>T	1.37:g.225611758G>A	ENSP00000339883:p.Ala7Val					LBR_ENST00000272163.4_Missense_Mutation_p.A7V	p.A7V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	145	-	Breast(184;0.165)		7			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.20C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112372	0.56398	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97041	-4.22;-4.22;0.44	5.51	4.58	0.56647	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.361768	0.29145	N	0.013017	D	0.93138	0.7815	N	0.19112	0.55	0.33255	D	0.558951	B;B	0.24258	0.1;0.02	B;B	0.28916	0.096;0.017	D	0.92783	0.6242	10	0.35671	T	0.21	-12.0216	12.7545	0.57325	0.0778:0.0:0.9222:0.0	.	7;7	C9JXK0;Q14739	.;LBR_HUMAN	V	7	ENSP00000272163:A7V;ENSP00000339883:A7V;ENSP00000388059:A7V	ENSP00000272163:A7V	A	-	2	0	LBR	223678381	0.999000	0.42202	0.893000	0.35052	0.970000	0.65996	3.148000	0.50647	1.285000	0.44548	0.655000	0.94253	GCC		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		6	625	0	0	0	1	0	6	625					A	225611758	G	A	225611758	3	1	116	1	0	0	0	0	1	0	0	0	8652	1203	42	3	1879	3	LBR	1	225611758	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	20540965	225611758	23638863	2	2089										
OXER1	165140	broad.mit.edu	37	chr2	42990174	42990174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	gagggttggtaggagctctcGtcgctcactgggccctgccg	16	12	2	0	rs145580414	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:42990174G>A	ENST00000378661.2	-	1	1227	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	382					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGAGCTCTCGTCGCTCACTG	0.667													.|||	4	0.000798722	0.003	0	5008	,	,		18531	0		0	False		,,,				2504	0					ENST00000378661.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1144-1146)gaC>gaT		oxoeicosanoid (OXE) receptor 1		G		16,4390	20.2+/-43.8	0,16,2187	42	46	45		1146	-8	0	2	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	OXER1	NM_148962.4		0,16,6487	AA,AG,GG		0.0,0.3631,0.123		382/424	42990174	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	165140				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	g.chr2:42990174G>A	AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.1146C>T	2.37:g.42990174G>A							p.D382D	NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN			1	1227	-			382					Q86WP7|Q8NGW4	Silent	SNP	ENST00000378661.2	37	c.1146C>T	CCDS1810.1																																																																																				0.667	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962		37	66	0	0	0	1	0	37	66					A	42990174	G	A	42990174	2	1	116	1	0	0	0	0	0	0	0	1	11331	1136	40	1		1	OXER1	2	42990174	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		42990174	200209199	3	2090										
MBD5	55777	broad.mit.edu	37	chr2	149227911	149227911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	tgggatgctcagtcagtcggGcatggctttaggaaattcct	13	8	2	0	rs201668347		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:149227911G>A	ENST00000407073.1	+	9	3396	c.2399G>A	c.(2398-2400)gGc>gAc	p.G800D	MBD5_ENST00000404807.1_Missense_Mutation_p.G800D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	800					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGTCAGTCGGGCATGGCTTTA	0.453													G|||	1	0.000199681	0	0.0014	5008	,	,		17172	0		0	False		,,,				2504	0					ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2398-2400)gGc>gAc		methyl-CpG binding domain protein 5							123	115	118					2																	149227911		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227911G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2399G>A	2.37:g.149227911G>A	ENSP00000386049:p.Gly800Asp					MBD5_ENST00000404807.1_Missense_Mutation_p.G800D	p.G800D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3396	+			800					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2399G>A	CCDS33302.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.13|16.13	3.036345|3.036345	0.54896|0.54896	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|T;T	.|0.57595	.|0.43;0.39	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.64402	.|D	.|0.000012	T|T	0.60508|0.60508	0.2274|0.2274	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.995;0.999	T|T	0.62996|0.62996	-0.6735|-0.6735	5|10	.|0.54805	.|T	.|0.06	-4.5094|-4.5094	16.9333|16.9333	0.86196|0.86196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|800;800	.|Q9P267-2;Q9P267	.|.;MBD5_HUMAN	T|D	540|800	.|ENSP00000386049:G800D;ENSP00000384672:G800D	.|ENSP00000384672:G800D	A|G	+|+	1|2	0|0	MBD5|MBD5	148944381|148944381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.613000|5.613000	0.67688|0.67688	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			4	195	0	0	0	1	0	4	195					A	149227911	G	A	149227911	3	1	116	1	0	0	0	0	1	0	0	0	9347	1203	42	3	2413	3	MBD5	2	149227911	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	106237737	149227911	93971462	4	2091										
CCDC150	284992	broad.mit.edu	37	chr2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-													0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	agaactactggcccaggaacAaaaaaaaaaagaagagttgg					rs75642251|rs376590781		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(838-840)cafs		coiled-coil domain containing 150				178,205,3109		1,0,176,1,203,1365	43	43	43			4.6	0.7	2		34	430,361,7013		2,0,426,2,357,3115	no	codingComplex	CCDC150	NM_001080539.1		3,0,602,3,560,4480	A1A1,A1A2,A1R,A2A2,A2R,RR		10.1358,10.9679,10.3931			197531519	608,566,10122	1807	4072	5879	SO:0001589	frameshift_variant	284992							g.chr2:197531519delA		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.839delA	2.37:g.197531519delA	ENSP00000373827:p.Gln280fs					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Intron	p.Q280fs	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			7	974	+			280					Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Del	DEL	ENST00000389175.4	37	c.839delA	CCDS46478.1																																																																																				0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		7	42						7	42	---	---	---	---	-	197531519	A	-	197531519	7	5	116	1	0	1	0	1	0	0	0	0	2785	130	5	0	865	0	CCDC150	2	197531519	Frame_Shift_Del	DEL	A	TCGA-SQ-A6I6-01A-11D-A35I-08	48303608	197531519	45667854	5	2092										
CCNI	10983	broad.mit.edu	37	chr4	77969505	77969505	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	agagccgtttgattccatcaTagaagtcatccacttccatt	6	11	2	3	rs139547927	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr4:77969505T>C	ENST00000237654.4	-	7	1577	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	334					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GATTCCATCATAGAAGTCATC	0.453																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(1000-1002)tAt>tGt		cyclin I		T	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	140	138	139		1001	5.6	1	4	dbSNP_134	139	1,8599	2.2+/-6.3	0,1,4299	yes	missense	CCNI	NM_006835.2	194	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	probably-damaging	334/378	77969505	2,13004	2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77969505T>C	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.1001A>G	4.37:g.77969505T>C	ENSP00000237654:p.Tyr334Cys					CCNI_ENST00000537948.1_Missense_Mutation_p.Y320C	p.Y334C	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1577	-			334					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.1001A>G	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.975891	0.74360	2.27E-4	1.16E-4	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.55930	0.49;0.49	5.57	5.57	0.84162	.	0.053990	0.85682	D	0.000000	T	0.72070	0.3415	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.956	T	0.76072	-0.3093	10	0.87932	D	0	-14.2206	15.7408	0.77894	0.0:0.0:0.0:1.0	.	320;334	B7Z6X4;Q14094	.;CCNI_HUMAN	C	334;320	ENSP00000237654:Y334C;ENSP00000441001:Y320C	ENSP00000237654:Y334C	Y	-	2	0	CCNI	78188529	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	5.430000	0.66501	2.114000	0.64651	0.460000	0.39030	TAT		0.453	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		61	112	0	0	0	1	0	61	112					C	77969505	T	C	77969505	3	2	116	1	0	0	0	0	1	0	0	0	2926	1406	49	4	136	4	CCNI	4	77969505	Missense_Mutation	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08		77969505	113184771	6	2093										
P4HA2	8974	broad.mit.edu	37	chr5	131534588	131534588	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ttaccctagagaagtcgaagTgcggttcatactgtcctccc	9	12	1	1			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr5:131534588T>C	ENST00000401867.1	-	12	1857	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	430	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GAAGTCGAAGTGCGGTTCATA	0.483																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1288-1290)cAc>cGc		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						132	112	119					5																	131534588		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131534588T>C	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1289A>G	5.37:g.131534588T>C	ENSP00000384999:p.His430Arg					P4HA2_ENST00000379100.2_Missense_Mutation_p.H430R|P4HA2_ENST00000166534.4_Missense_Mutation_p.H430R|P4HA2_ENST00000379086.1_Missense_Mutation_p.H430R|P4HA2_ENST00000379104.2_Missense_Mutation_p.H430R|P4HA2_ENST00000360568.3_Missense_Mutation_p.H430R	p.H430R			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1857	-		all_cancers(142;0.103)|Breast(839;0.198)	430			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.1289A>G	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858688	0.71834	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	6.07	6.07	0.98685	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98794	1.0737	10	0.87932	D	0	0.3111	16.6407	0.85098	0.0:0.0:0.0:1.0	.	430;430	O15460;O15460-2	P4HA2_HUMAN;.	R	430	ENSP00000384999:H430R;ENSP00000368379:H430R;ENSP00000166534:H430R;ENSP00000353772:H430R;ENSP00000368398:H430R;ENSP00000368394:H430R	ENSP00000166534:H430R	H	-	2	0	P4HA2	131562487	1.000000	0.71417	0.997000	0.53966	0.463000	0.32649	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	CAC		0.483	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		4	78	0	0	0	1	0	4	78					C	131534588	T	C	131534588	3	2	116	1	0	0	0	0	1	0	0	0	11357	1696	59	4	402	4	P4HA2	5	131534588	Missense_Mutation	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08		131534588	49380672	7	2094										
FAM83A	84985	broad.mit.edu	37	chr8	124195302	124195302	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	cttgtcctcggtggaggcccAgtacatccaggcccaggcca	12	15	0	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr8:124195302A>G	ENST00000518448.1	+	2	2220	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	69										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGAGGCCCAGTACATCCAG	0.677																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(205-207)cAg>cGg		family with sequence similarity 83, member A							45	40	41					8																	124195302		2203	4300	6503	SO:0001583	missense	84985							g.chr8:124195302A>G	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.206A>G	8.37:g.124195302A>G	ENSP00000428876:p.Gln69Arg					FAM83A_ENST00000536633.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000522648.1_Missense_Mutation_p.Q69R|FAM83A_ENST00000318462.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000276699.6_Missense_Mutation_p.Q69R|FAM83A_ENST00000546351.1_Missense_Mutation_p.Q69R	p.Q69R			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2220	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		69					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.206A>G	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.056697	0.36277	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.11169	2.8;2.94;2.8;2.8;2.94;2.8	5.36	3.04	0.35103	.	0.387988	0.28047	N	0.016812	T	0.05273	0.0140	N	0.12471	0.22	0.30547	N	0.765902	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.14578	0.006;0.006;0.011	T	0.25502	-1.0130	10	0.10902	T	0.67	-27.463	9.9861	0.41843	0.8264:0.0:0.1736:0.0	.	69;69;69	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	R	69	ENSP00000428876:Q69R;ENSP00000440565:Q69R;ENSP00000445218:Q69R;ENSP00000323034:Q69R;ENSP00000427979:Q69R;ENSP00000276699:Q69R	ENSP00000276699:Q69R	Q	+	2	0	FAM83A	124264483	0.016000	0.18221	1.000000	0.80357	0.988000	0.76386	1.120000	0.31271	2.013000	0.59113	0.459000	0.35465	CAG		0.677	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		25	43	0	0	0	1	0	25	43					G	124195302	A	G	124195302	3	3	116	1	0	0	0	0	1	0	0	0	5633	188	7	4	208	4	FAM83A	8	124195302	Missense_Mutation	SNP	A	TCGA-SQ-A6I6-01A-11D-A35I-08		124195302	22168720	8	2095										
NUP188	23511	broad.mit.edu	37	chr9	131767807	131767807	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	tctgccagattctgctggatCaggtactgcccatcatctgt	9	12	5	1			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr9:131767807C>G	ENST00000372577.2	+	40	4756	c.4735C>G	c.(4735-4737)Cag>Gag	p.Q1579E	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1579					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTGCTGGATCAGGTACTGCC	0.577																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(4735-4737)Cag>Gag		nucleoporin 188kDa							103	99	100					9																	131767807		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131767807C>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4735C>G	9.37:g.131767807C>G	ENSP00000361658:p.Gln1579Glu						p.Q1579E	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			40	4756	+			1579					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4735C>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520659	0.27211	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.32515	1.45	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.48362	1.52	0.80722	D	1	B	0.26002	0.139	B	0.24701	0.055	T	0.08638	-1.0712	10	0.07813	T	0.8	-36.17	18.0037	0.89203	0.0:1.0:0.0:0.0	.	1579	Q5SRE5	NU188_HUMAN	E	1468;1579	ENSP00000361658:Q1579E	ENSP00000349125:Q1468E	Q	+	1	0	NUP188	130807628	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	7.237000	0.78164	2.482000	0.83794	0.561000	0.74099	CAG		0.577	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	220	0	0	0	1	0	4	220					G	131767807	C	G	131767807	3	3	116	1	0	0	0	0	1	0	0	0	10758	827	29	5	4893	5	NUP188	9	131767807	Missense_Mutation	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08		131767807	9445624	9	2096										
BICC1	80114	broad.mit.edu	37	chr10	60553271	60553271	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ttcctcttgtgttgatgtttGatatgaaggaagaaattgaa	10	3	1	5			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr10:60553271G>C	ENST00000373886.3	+	9	1079	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H	BICC1_ENST00000263103.1_5'Flank	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	359					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GTTGATGTTTGATATGAAGGA	0.358																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1075-1077)Gat>Cat		bicaudal C homolog 1 (Drosophila)							141	130	134					10																	60553271		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60553271G>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1075G>C	10.37:g.60553271G>C	ENSP00000362993:p.Asp359His						p.D359H	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			9	1079	+			359						Missense_Mutation	SNP	ENST00000373886.3	37	c.1075G>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831382	0.91036	.	.	ENSG00000122870	ENST00000373886	T	0.44881	0.91	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70281	-0.4915	10	0.56958	D	0.05	-19.7023	19.9664	0.97271	0.0:0.0:1.0:0.0	.	359	Q9H694	BICC1_HUMAN	H	359	ENSP00000362993:D359H	ENSP00000362993:D359H	D	+	1	0	BICC1	60223277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.718000	0.92993	0.655000	0.94253	GAT		0.358	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		5	104	0	0	0	1	0	5	104					C	60553271	G	C	60553271	3	2	116	1	0	0	0	0	1	0	0	0	1427	1290	45	5	1109	5	BICC1	10	60553271	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		60553271	74981476	10	2097										
DENND5A	23258	broad.mit.edu	37	chr11	9187392	9187392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ccacagcttaccttattgcgGcattccttcagcaggccctc	7	16	1	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	758					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTATTGCGGCATTCCTTCA	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2272-2274)tgC>tgT		DENN/MADD domain containing 5A							164	145	151					11																	9187392		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9187392G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2274C>T	11.37:g.9187392G>A						DENND5A_ENST00000530044.1_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C	p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			11	2594	-			758					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2274C>T	CCDS31423.1																																																																																				0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		4	150	0	0	0	1	0	4	150					A	9187392	G	A	9187392	2	1	116	1	0	0	0	0	0	0	0	1	4436	1195	42	3		3	DENND5A	11	9187392	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		9187392	125819124	11	2098										
TIMM10	26519	broad.mit.edu	37	chr11	57296266	57296266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	acaactctgtcaactttttgCccatccgctcatggatgtcc	6	14	3	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:57296266C>T	ENST00000257245.4	-	3	349	c.197G>A	c.(196-198)gGc>gAc	p.G66D	TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	66					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(2)	3						CAACTTTTTGCCCATCCGCTC	0.542																																						ENST00000257245.4																			0				cervix(1)|large_intestine(2)	3						c.(196-198)gGc>gAc		translocase of inner mitochondrial membrane 10 homolog (yeast)							157	134	142					11																	57296266		2201	4296	6497	SO:0001583	missense	26519				protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding	g.chr11:57296266C>T	AF152354	CCDS7959.1	11q12.1-q12.3	2008-07-21	2001-11-28			ENSG00000134809			11814	protein-coding gene	gene with protein product		602251	"translocase of inner mitochondrial membrane 10 (yeast) homolog"			10552927	Standard	NM_012456		Approved	TIM10, TIM10A	uc001nkm.1	P62072		ENST00000257245.4:c.197G>A	11.37:g.57296266C>T	ENSP00000257245:p.Gly66Asp					TIMM10_ENST00000525587.1_Missense_Mutation_p.G66D|TIMM10_ENST00000525158.1_Missense_Mutation_p.G66D	p.G66D	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN			3	349	-			66					A8K136|Q9WV99|Q9WVA0|Q9Y5J8	Missense_Mutation	SNP	ENST00000257245.4	37	c.197G>A	CCDS7959.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302762	0.95601	.	.	ENSG00000134809	ENST00000257245;ENST00000525587;ENST00000525158	T;T;T	0.66280	-0.2;-0.2;-0.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83033	-0.0161	9	0.87932	D	0	-41.416	19.6068	0.95584	0.0:1.0:0.0:0.0	.	66	P62072	TIM10_HUMAN	D	66	ENSP00000257245:G66D;ENSP00000435678:G66D;ENSP00000433627:G66D	ENSP00000257245:G66D	G	-	2	0	TIMM10	57052842	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.640000	0.83355	2.744000	0.94065	0.563000	0.77884	GGC		0.542	TIMM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392595.1	NM_012456		4	154	0	0	0	1	0	4	154					T	57296266	C	T	57296266	3	4	116	1	0	0	0	0	1	0	0	0	15902	739	26	3	79	3	TIMM10	11	57296266	Missense_Mutation	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	48108874	57296266	77710250	12	2099										
LTBP3	4054	broad.mit.edu	37	chr11	65314941	65314941	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ggaggccgggaggctttgagCcggtagccggggtagcagtt	20	8	0	1			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:65314941C>T	ENST00000301873.5	-	14	2344	c.2076G>A	c.(2074-2076)cgG>cgA	p.R692R	LTBP3_ENST00000536982.1_Silent_p.R318R|LTBP3_ENST00000322147.4_Silent_p.R692R|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Silent_p.R122R|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	692	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCTTTGAGCCGGTAGCCGG	0.627																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2074-2076)cgG>cgA		latent transforming growth factor beta binding protein 3							71	81	78					11																	65314941		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65314941C>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2076G>A	11.37:g.65314941C>T						LTBP3_ENST00000532932.1_Silent_p.R122R|LTBP3_ENST00000322147.4_Silent_p.R692R|LTBP3_ENST00000536982.1_Silent_p.R318R	p.R692R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			14	2344	-			692			Cys-rich.|EGF-like 5; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.2076G>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202235	0.22121	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.63	0.535	0.17133	.	.	.	.	.	T	0.50051	0.1593	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31998	-0.9923	4	.	.	.	.	4.3839	0.11307	0.0:0.552:0.1659:0.2821	.	.	.	.	T	343	.	.	A	-	1	0	LTBP3	65071517	0.998000	0.40836	0.993000	0.49108	0.910000	0.53928	0.454000	0.21827	-0.177000	0.10690	0.313000	0.20887	GCT		0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	131	0	0	0	1	0	4	131					T	65314941	C	T	65314941	2	4	116	1	0	0	0	0	0	0	0	1	9075	726	26	3		3	LTBP3	11	65314941	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	8018675	65314941	69691575	13	2100										
MMP27	64066	broad.mit.edu	37	chr11	102567138	102567138	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ttacttctctgcggaaagttGtgatagcgtcaaaagtcaag	10	7	3	1	rs547057032		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr11:102567138G>T	ENST00000260229.4	-	6	957	c.866C>A	c.(865-867)aCa>aAa	p.T289K		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	289					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GCGGAAAGTTGTGATAGCGTC	0.413																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(865-867)aCa>aAa		matrix metallopeptidase 27							166	171	169					11																	102567138		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102567138G>T	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.866C>A	11.37:g.102567138G>T	ENSP00000260229:p.Thr289Lys						p.T289K	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	6	957	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	289			Hemopexin-like 1.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.866C>A	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675309	0.88445	.	.	ENSG00000137675	ENST00000260229	T	0.02890	4.12	6.08	6.08	0.98989	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000005	T	0.24967	0.0606	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02821	-1.1106	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	289	Q9H306	MMP27_HUMAN	K	289	ENSP00000260229:T289K	ENSP00000260229:T289K	T	-	2	0	MMP27	102072348	1.000000	0.71417	0.999000	0.59377	0.743000	0.42351	7.540000	0.82074	2.894000	0.99253	0.591000	0.81541	ACA		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		42	54	1	0	3.76604e-16	1	4.07347e-16	42	54					T	102567138	G	T	102567138	3	4	116	1	0	0	0	0	1	0	0	0	9664	1377	48	5	695	5	MMP27	11	102567138	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	37252197	102567138	32439378	14	2101										
CRY1	1407	broad.mit.edu	37	chr12	107391082	107391082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	tttcacttacttccactgctGctacaacctgggatattttc	5	12	1	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr12:107391082G>A	ENST00000008527.5	-	10	2442	c.1575C>T	c.(1573-1575)agC>agT	p.S525S		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	525					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTCCACTGCTGCTACAACCTG	0.343																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(1573-1575)agC>agT		cryptochrome 1 (photolyase-like)							162	168	166					12																	107391082		2203	4300	6503	SO:0001819	synonymous_variant	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107391082G>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1575C>T	12.37:g.107391082G>A							p.S525S	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			10	2442	-			525						Silent	SNP	ENST00000008527.5	37	c.1575C>T	CCDS9112.1																																																																																				0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		5	488	0	0	0	1	0	5	488					A	107391082	G	A	107391082	2	1	116	1	0	0	0	0	0	0	0	1	3903	1310	46	3		3	CRY1	12	107391082	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		107391082	26460813	15	2102										
VPS36	51028	broad.mit.edu	37	chr13	52990060	52990061	+	Splice_Site	INS	-	-	A													0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ttctctgcaagcagcaacctINSaaaaaaaaacaacaaaaaaa					rs199969103	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr13:52990060_52990061insA	ENST00000378060.4	-	14	1095		c.e14-2			NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGCAGCAACCTAAAAAAAAACA	0.396													?|AAAAAAAAA|AAAAAAAAAA|unsure	36	0.0071885	0.0265	0.0014	5008	,	,		22003	0		0	False		,,,				2504	0					ENST00000378060.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.e14-2		vacuolar protein sorting 36 homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52990060_52990061insA	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.1068-2->T	13.37:g.52990069_52990069dupA								NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	14	1095	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Splice_Site	INS	ENST00000378060.4	37		CCDS9434.1																																																																																				0.396	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3		Intron	9	247						9	247	---	---	---	---	A	52990061	-	A	52990060	8	5	116	1	0	1	1	0	0	0	1	0	17201	1536	53	0	98	0	VPS36	13	52990060	Splice_Site	INS	-	TCGA-SQ-A6I6-01A-11D-A35I-08		52990060	62179818	16	2103										
ACAN	176	broad.mit.edu	37	chr15	89402355	89402355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	caccagtgatgtggggacagAggcaccaggcttgccttcag	14	11	1	2			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89402355A>T	ENST00000561243.1	+	11	6539	c.6539A>T	c.(6538-6540)gAg>gTg	p.E2180V	ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V|ACAN_ENST00000439576.2_Missense_Mutation_p.E2180V			P16112	PGCA_HUMAN	aggrecan	2065	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGGGACAGAGGCACCAGGC	0.592																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6538-6540)gAg>gTg		aggrecan							62	67	65					15																	89402355		2086	4216	6302	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402355A>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6539A>T	15.37:g.89402355A>T	ENSP00000453342:p.Glu2180Val					ACAN_ENST00000561243.1_Missense_Mutation_p.E2180V|ACAN_ENST00000559004.1_Missense_Mutation_p.E2180V|ACAN_ENST00000352105.7_Missense_Mutation_p.E2180V	p.E2180V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6913	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2180					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6539A>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	A	7.179	0.589199	0.13812	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02916	4.39;4.11	5.15	4.03	0.46877	.	0.656995	0.11844	N	0.524008	T	0.10766	0.0263	M	0.70595	2.14	0.09310	N	1	D;D	0.63046	0.964;0.992	P;P	0.62649	0.706;0.905	T	0.19614	-1.0300	10	0.42905	T	0.14	-7.8238	7.2637	0.26217	0.8163:0.0:0.1837:0.0	.	2180;2180	E7ENV9;E7EX88	.;.	V	2180;2180;2066	ENSP00000387356:E2180V;ENSP00000341615:E2180V	ENSP00000268134:E2066V	E	+	2	0	ACAN	87203359	0.752000	0.28338	0.007000	0.13788	0.003000	0.03518	1.488000	0.35551	0.822000	0.34565	0.454000	0.30748	GAG		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	130	0	0	0	1	0	4	130					T	89402355	A	T	89402355	3	4	116	1	0	0	0	0	1	0	0	0	117	304	11	5	6581	5	ACAN	15	89402355	Missense_Mutation	SNP	A	TCGA-SQ-A6I6-01A-11D-A35I-08		89402355	13129037	17	2104										
FANCI	55215	broad.mit.edu	37	chr15	89804896	89804896	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	agagaaggcagcctagtgaaTggaaaatctttggagttact	12	5	1	2			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89804896T>A	ENST00000310775.7	+	5	455	c.369T>A	c.(367-369)aaT>aaA	p.N123K	FANCI_ENST00000567996.1_Missense_Mutation_p.N123K|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.N123K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	123					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCTAGTGAATGGAAAATCTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(367-369)aaT>aaA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							210	202	205					15																	89804896		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89804896T>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.369T>A	15.37:g.89804896T>A	ENSP00000310842:p.Asn123Lys					FANCI_ENST00000567996.1_Missense_Mutation_p.N123K|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.N123K	p.N123K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			5	455	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		123					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.369T>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081415	0.55753	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.43294	0.95;0.95;0.95	5.27	2.97	0.34412	.	0.199329	0.42172	D	0.000757	T	0.34454	0.0898	M	0.65975	2.015	0.80722	D	1	B;P	0.40834	0.056;0.73	B;B	0.36244	0.047;0.22	T	0.12656	-1.0539	10	0.12766	T	0.61	-14.8215	9.6974	0.40165	0.0:0.1408:0.0:0.8592	.	123;123	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	K	123	ENSP00000300027:N123K;ENSP00000310842:N123K;ENSP00000413249:N123K	ENSP00000300027:N123K	N	+	3	2	FANCI	87605900	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	2.815000	0.48018	0.463000	0.27118	0.533000	0.62120	AAT		0.398	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		123	213	0	0	0	1	0	123	213					A	89804896	T	A	89804896	3	1	116	1	0	0	0	0	1	0	0	0	5669	1461	51	5	383	5	FANCI	15	89804896	Missense_Mutation	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08	402541	89804896	12726496	18	2105										
POLG	5428	broad.mit.edu	37	chr15	89862284	89862284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	catttctgactctgtgccccCcttccatgcccgttcagcaa	6	17	3	1	rs121918049		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr15:89862284C>A	ENST00000268124.5	-	20	3484	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W	POLG_ENST00000442287.2_Missense_Mutation_p.G1051W	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1051			G -> R (in SANDO). {ECO:0000269|PubMed:14745080}.		aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCTGTGCCCCCCTTCCATGCC	0.532								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	GRCh37	CM040472	POLG	M	rs121918049	c.(3151-3153)Ggg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							136	121	126					15																	89862284		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89862284C>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3151G>T	15.37:g.89862284C>A	ENSP00000268124:p.Gly1051Trp					POLG_ENST00000442287.2_Missense_Mutation_p.G1051W	p.G1051W	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		20	3484	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1051		G -> R (in SANDO).			Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3151G>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108785	0.77096	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.99252	-5.63;-5.63	5.21	5.21	0.72293	DNA-directed DNA polymerase, family A, palm domain (2);	0.045182	0.85682	D	0.000000	D	0.99450	0.9805	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98408	1.0571	10	0.87932	D	0	-37.521	13.2575	0.60087	0.0:0.9244:0.0:0.0756	.	1051	P54098	DPOG1_HUMAN	W	1051	ENSP00000268124:G1051W;ENSP00000399851:G1051W	ENSP00000268124:G1051W	G	-	1	0	POLG	87663288	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	4.530000	0.60595	2.716000	0.92895	0.561000	0.74099	GGG		0.532	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		4	173	1	0	1	1	1	4	173					A	89862284	C	A	89862284	3	1	116	1	0	0	0	0	1	0	0	0	12200	623	22	5	584	5	POLG	15	89862284	Missense_Mutation	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	57388	89862284	12669108	19	2106										
MSLNL	401827	broad.mit.edu	37	chr16	819596	819596	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	aggctgcaaggcagggccatCgccaggggcaggtaccccag	16	13	0	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:819596C>T	ENST00000442466.1	-	15	1940	c.1941G>A	c.(1939-1941)gcG>gcA	p.A647A	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Silent_p.A998A			Q96KJ4	MSLNL_HUMAN	mesothelin-like	647					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCAGGGCCATCGCCAGGGGCA	0.652																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(2992-2994)gcG>gcA		mesothelin-like							34	39	38					16																	819596		2032	4177	6209	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:819596C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1941G>A	16.37:g.819596C>T						MSLNL_ENST00000442466.1_Silent_p.A647A	p.A998A			Q96KJ4	MSLNL_HUMAN			16	2993	-			647						Silent	SNP	ENST00000442466.1	37	c.2994G>A																																																																																					0.652	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		3	42	0	0	0	1	0	3	42					T	819596	C	T	819596	2	4	116	1	0	0	0	0	0	0	0	1	9882	871	31	2		2	MSLNL	16	819596	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08		819596	89535157	20	2107										
USP31	57478	broad.mit.edu	37	chr16	23117810	23117810	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	tatcagtctctgatggtggcTaaaaaaaaaagaaagtacaa	8	5	2	2	rs137886921	byFrequency	TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:23117810T>A	ENST00000219689.7	-	3	771		c.e3-2			NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGATGGTGGCTAAAAAAAAAA	0.388																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.e3-2		ubiquitin specific peptidase 31							42	40	40					16																	23117810		2197	4300	6497	SO:0001630	splice_region_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23117810T>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.772-2A>T	16.37:g.23117810T>A								NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	3	771	-								B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	ENST00000219689.7	37		CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316014	0.81469	.	.	ENSG00000103404	ENST00000219689	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0849	0.72145	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP31	23025311	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	7.606000	0.82863	2.214000	0.71695	0.523000	0.50628	.		0.388	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	Intron	3	29	0	0	0	1	0	3	29					A	23117810	T	A	23117810	5	1	116	1	0	0	0	0	0	0	1	0	17059	1536	53	5	3344	5	USP31	16	23117810	Splice_Site	SNP	T	TCGA-SQ-A6I6-01A-11D-A35I-08	22298214	23117810	67236943	21	2108										
CDH15	1013	broad.mit.edu	37	chr16	89261332	89261332	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	gacacagccctcatctatgaCtacgagggtgacggctcggt	12	12	2	2			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr16:89261332C>T	ENST00000289746.2	+	14	2279	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	738					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TCATCTATGACTACGAGGGTG	0.622																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2212-2214)gaC>gaT		cadherin 15, type 1, M-cadherin (myotubule)							31	29	30					16																	89261332		2180	4289	6469	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261332C>T	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"Cadherins / Major cadherins"	1754	protein-coding gene	gene with protein product		114019	"cadherin 15, M-cadherin (myotubule)"	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2214C>T	16.37:g.89261332C>T							p.D738D	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2279	+			738						Silent	SNP	ENST00000289746.2	37	c.2214C>T	CCDS10976.1																																																																																				0.622	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		22	56	0	0	0	1	0	22	56					T	89261332	C	T	89261332	2	4	116	1	0	0	0	0	0	0	0	1	3100	564	20	3		3	CDH15	16	89261332	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08	66143522	89261332	1093421	22	2109										
NF1	4763	broad.mit.edu	37	chr17	29556251	29556252	+	Frame_Shift_Ins	INS	-	-	T													0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	atgggtccagtcagtgaacgINStaagggttctatgatttcag							TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:29556251_29556252insT	ENST00000358273.4	+	21	3001_3002	c.2618_2619insT	c.(2617-2622)cgtaagfs	p.K874fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.K874fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	874					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCAGTGAACGTAAGGGTTCTA	0.5			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2617-2619)caafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556251_29556252insT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2619dupT	17.37:g.29556252_29556252dupT	ENSP00000351015:p.Lys874fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q873fs	p.Q873fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3001_3002	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	873		R -> C (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.2618_2619insT	CCDS42292.1																																																																																				0.5	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		83	34						83	34	---	---	---	---	T	29556252	-	T	29556251	7	5	116	1	0	1	1	0	0	0	0	0	10356	1145	40	0	2761	0	NF1	17	29556251	Frame_Shift_Ins	INS	-	TCGA-SQ-A6I6-01A-11D-A35I-08		29556251	51638959	23	2110										
CDK5RAP3	80279	broad.mit.edu	37	chr17	46051813	46051813	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	gagaaggacaacacctacttAggtaaagtggcccggcctgg	13	10	0	1			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr17:46051813A>C	ENST00000338399.4	+	5	439	c.333A>C	c.(331-333)ttA>ttC	p.L111F	CDK5RAP3_ENST00000536708.2_Splice_Site_p.L136F|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	111					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACACCTACTTAGGTAAAGTGG	0.498																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e5+1		CDK5 regulatory subunit associated protein 3							127	125	126					17																	46051813		1904	4126	6030	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46051813A>C	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.334+1A>C	17.37:g.46051813A>C						CDK5RAP3_ENST00000338399.4_Splice_Site_p.L111_splice	p.L136_splice	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			5	517	+			111					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37	c.409_splice	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341026	0.81911	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.68765	-0.35;-0.35	5.64	-0.626	0.11544	.	0.000000	0.64402	D	0.000001	T	0.80330	0.4603	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77054	-0.2730	10	0.72032	D	0.01	-34.8137	5.44	0.16501	0.5412:0.1423:0.3165:0.0	.	111	Q96JB5	CK5P3_HUMAN	F	136;111	ENSP00000438886:L136F;ENSP00000344683:L111F	ENSP00000344683:L111F	L	+	3	2	CDK5RAP3	43406812	0.998000	0.40836	0.999000	0.59377	0.977000	0.68977	0.670000	0.25157	0.103000	0.17682	0.533000	0.62120	TTA		0.498	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Missense_Mutation	38	79	0	0	0	1	0	38	79					C	46051813	A	C	46051813	5	2	116	1	0	0	0	0	0	0	1	0	3147	434	15	5	351	5	CDK5RAP3	17	46051813	Splice_Site	SNP	A	TCGA-SQ-A6I6-01A-11D-A35I-08	16495562	46051813	35143397	24	2111										
NWD1	284434	broad.mit.edu	37	chr19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	atccttggatgtgcatggccGtgctggcctcccaggccaca	12	14	0	0	rs574827018		TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:16902242G>A	ENST00000552788.1	+	12	3022	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000524140.2_Missense_Mutation_p.V1008M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517													G|||	1	0.000199681	0	0	5008	,	,		18845	0		0	False		,,,				2504	0.001					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3022-3024)Gtg>Atg		NACHT and WD repeat domain containing 1							103	92	96					19																	16902242		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902242G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3022G>A	19.37:g.16902242G>A	ENSP00000447224:p.Val1008Met					NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M	p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3440	+			1008					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	9.459	1.092560	0.20471	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.44083	1.48;0.93;1.48;3.41;3.41;3.41	5.44	-0.905	0.10527	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.392410	0.04551	N	0.389874	T	0.22859	0.0552	L	0.27053	0.805	0.09310	N	1	B;P;B	0.43578	0.338;0.811;0.338	B;B;B	0.30029	0.015;0.11;0.023	T	0.15521	-1.0434	10	0.39692	T	0.17	-4.4714	4.2802	0.10829	0.1393:0.113:0.6327:0.115	.	1008;1008;873	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	873;1008;1008;1008;802;1008;873	ENSP00000428579:V1008M;ENSP00000447548:V1008M;ENSP00000369136:V1008M;ENSP00000428955:V802M;ENSP00000447224:V1008M;ENSP00000340159:V873M	ENSP00000340159:V873M	V	+	1	0	NWD1	16763242	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.312000	0.19397	-0.554000	0.06150	-2.048000	0.00412	GTG		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		71	90	0	0	0	1	0	71	90					A	16902242	G	A	16902242	3	1	116	1	0	0	0	0	1	0	0	0	10781	1145	40	1	2655	1	NWD1	19	16902242	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		16902242	42226741	25	2112										
PPP1R13L	10848	broad.mit.edu	37	chr19	45885941	45885941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	gcgctgtagtcccagagagcGtacactgccccgctgttcat	11	14	1	1			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2290-2292)taC>taT		protein phosphatase 1, regulatory subunit 13 like							62	51	55					19																	45885941		2203	4300	6503	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885941G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2292C>T	19.37:g.45885941G>A						PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2370	-		all_neural(266;0.224)|Ovarian(192;0.231)	764			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2292C>T	CCDS33050.1																																																																																				0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		32	38	0	0	0	1	0	32	38					A	45885941	G	A	45885941	2	1	116	1	0	0	0	0	0	0	0	1	12358	1140	40	1		1	PPP1R13L	19	45885941	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	28983699	45885941	13243042	26	2113										
CD37	951	broad.mit.edu	37	chr19	49840216	49840216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	ccaaagtcctggccatctcaGgaatcttcaccatgggcatc	8	14	3	0			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr19:49840216G>A	ENST00000323906.4	+	3	334	c.193G>A	c.(193-195)Gga>Aga	p.G65R	CD37_ENST00000535669.2_Missense_Mutation_p.G65R|CD37_ENST00000426897.2_5'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000598095.1_5'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	65					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GGCCATCTCAGGAATCTTCAC	0.632																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(193-195)Gga>Aga		CD37 molecule							101	86	91					19																	49840216		2203	4300	6503	SO:0001583	missense	951					integral to membrane		g.chr19:49840216G>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"CD molecules", "Tetraspanins"	1666	protein-coding gene	gene with protein product		151523	"CD37 antigen"			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.193G>A	19.37:g.49840216G>A	ENSP00000325708:p.Gly65Arg					CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Missense_Mutation_p.G65R|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_5'UTR|CD37_ENST00000598095.1_5'UTR	p.G65R			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	3	307	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	65					B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.193G>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510287	0.44660	.	.	ENSG00000104894	ENST00000391859;ENST00000323906;ENST00000535669	D;D;D	0.89875	-2.58;-2.58;-2.58	4.35	4.35	0.52113	Tetraspanin, conserved site (1);	0.000000	0.56097	D	0.000028	D	0.95108	0.8415	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95790	0.8824	10	0.87932	D	0	.	12.742	0.57257	0.0:0.0:1.0:0.0	.	65;65;65	B7ZAN3;B4DW15;P11049	.;.;CD37_HUMAN	R	65	ENSP00000375732:G65R;ENSP00000325708:G65R;ENSP00000441037:G65R	ENSP00000325708:G65R	G	+	1	0	CD37	54532028	1.000000	0.71417	0.037000	0.18230	0.004000	0.04260	5.828000	0.69307	2.162000	0.67917	0.467000	0.42956	GGA		0.632	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			3	51	0	0	0	1	0	3	51					A	49840216	G	A	49840216	3	1	116	1	0	0	0	0	1	0	0	0	3008	1001	35	3	203	3	CD37	19	49840216	Missense_Mutation	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08	3954275	49840216	9288767	27	2114										
SGSM1	129049	broad.mit.edu	37	chr22	25243680	25243680	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	agcaataagattgcagccctCtttatgaaagtgggcaagaa	10	7	1	3			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chr22:25243680C>G	ENST00000400359.4	+	4	226	c.219C>G	c.(217-219)ctC>ctG	p.L73L	SGSM1_ENST00000400358.4_Silent_p.L73L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	73	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGCAGCCCTCTTTATGAAAG	0.617																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(217-219)ctC>ctG		small G protein signaling modulator 1							23	25	25					22																	25243680		1974	4161	6135	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25243680C>G	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.219C>G	22.37:g.25243680C>G						SGSM1_ENST00000400359.4_Silent_p.L73L	p.L73L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			4	276	+			73			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.219C>G	CCDS46674.1																																																																																				0.617	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		31	7	0	0	0	1	0	31	7					G	25243680	C	G	25243680	2	3	116	1	0	0	0	0	0	0	0	1	14222	900	32	5		5	SGSM1	22	25243680	Silent	SNP	C	TCGA-SQ-A6I6-01A-11D-A35I-08		25243680	26060886	28	2115										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.137931034482759	4	1	1.87563025210084	7.97142857142857	0	0.0285714285714286	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-SQ-A6I6-01A-11D-A35I-08	TCGA-SQ-A6I6-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87a58b14-0399-402c-bd38-486ace20b825	a328dc21-5dac-49c9-b491-f30daac020b9	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	95	0	0	0	1	0	4	95					A	150156360	G	A	150156360	2	1	116	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-SQ-A6I6-01A-11D-A35I-08		150156360	5114200	29	2116										
EIF4G3	8672	broad.mit.edu	37	chr1	21226240	21226240	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	cagaactatctgtggagcctGaattagcatctattccttca	7	10	3	2			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:21226240G>A	ENST00000264211.8	-	10	1975	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000602326.1_Missense_Mutation_p.S600L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	594					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTGGAGCCTGAATTAGCATC	0.423																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1798-1800)tCa>tTa		eukaryotic translation initiation factor 4 gamma, 3							280	276	278					1																	21226240		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21226240G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1781C>T	1.37:g.21226240G>A	ENSP00000264211:p.Ser594Leu					EIF4G3_ENST00000374935.3_Missense_Mutation_p.S314L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.S594L|EIF4G3_ENST00000537738.1_Missense_Mutation_p.S47L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.S600L|EIF4G3_ENST00000544689.1_Missense_Mutation_p.S137L|EIF4G3_ENST00000536266.1_Missense_Mutation_p.S198L|EIF4G3_ENST00000400422.1_Missense_Mutation_p.S594L|EIF4G3_ENST00000374933.3_5'UTR	p.S600L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	14	2382	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	594					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1799C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774580	0.90108	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.45	5.45	0.79879	.	0.224693	0.38959	N	0.001510	T	0.31263	0.0791	N	0.08118	0	0.80722	D	1	P;B;B;P;B	0.45569	0.861;0.179;0.313;0.842;0.081	B;B;B;B;B	0.39339	0.297;0.057;0.124;0.239;0.017	T	0.15694	-1.0428	10	0.33141	T	0.24	-1.5501	19.34	0.94337	0.0:0.0:1.0:0.0	.	789;314;198;600;594	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	L	594;790;594;314;47;600;198;137;137	ENSP00000264211:S594L;ENSP00000383274:S594L;ENSP00000364071:S314L;ENSP00000442010:S47L;ENSP00000364073:S600L;ENSP00000444693:S198L;ENSP00000444401:S137L	ENSP00000264211:S594L	S	-	2	0	EIF4G3	21098827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.954000	0.63631	2.562000	0.86427	0.644000	0.83932	TCA		0.423	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		28	177	0	0	0	1	0	28	177					A	21226240	G	A	21226240	3	1	117	1	0	0	0	0	1	0	0	0	5038	1294	45	3	3064	3	EIF4G3	1	21226240	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		21226240	228024381	1	2117										
DOCK7	85440	broad.mit.edu	37	chr1	63042971	63042971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	ataagcctgtggtggtttttCcaatgagactggcaagcaaa	11	7	0	1			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:63042971C>G	ENST00000340370.5	-	18	2091	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.E692Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	692	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGTGGTTTTTCCAATGAGACT	0.368																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2074-2076)Gaa>Caa		dedicator of cytokinesis 7							73	72	72					1																	63042971		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63042971C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2074G>C	1.37:g.63042971C>G	ENSP00000340742:p.Glu692Gln					DOCK7_ENST00000340370.5_Missense_Mutation_p.E692Q	p.E692Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			18	2107	-			692			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2074G>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655116	0.88056	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.14766	2.48;2.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.80982	2.52	0.80722	D	1	D;P;P;D	0.63880	0.987;0.848;0.923;0.993	D;P;P;D	0.65573	0.936;0.69;0.781;0.936	T	0.31280	-0.9949	10	0.72032	D	0.01	.	19.0274	0.92937	0.0:1.0:0.0:0.0	.	692;692;692;692	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	Q	692	ENSP00000251157:E692Q;ENSP00000340742:E692Q	ENSP00000251157:E692Q	E	-	1	0	DOCK7	62815559	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.651000	0.83577	2.729000	0.93468	0.467000	0.42956	GAA		0.368	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		42	53	0	0	0	1	0	42	53					G	63042971	C	G	63042971	3	3	117	1	0	0	0	0	1	0	0	0	4692	864	30	5	4383	5	DOCK7	1	63042971	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08	41816731	63042971	186207650	2	2118										
ABCD3	5825	broad.mit.edu	37	chr1	94884143	94884143	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	gccgcgccctcggcctgcacGggtaagaaggcccgtagccg	15	16	0	1			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr1:94884143G>A	ENST00000370214.4	+	1	133	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	ABCD3_ENST00000315713.5_Splice_Site_p.G37S|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000394233.2_Splice_Site_p.G37S|ABCD3_ENST00000454898.2_Splice_Site_p.G37R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	37	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CGGCCTGCACGGGTAAGAAGG	0.701																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.e1+1		ATP-binding cassette, sub-family D (ALD), member 3							14	14	14					1																	94884143		2196	4292	6488	SO:0001630	splice_region_variant	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94884143G>A	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.110+1G>A	1.37:g.94884143G>A						ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000454898.2_Splice_Site_p.G37_splice|ABCD3_ENST00000394233.2_Splice_Site_p.G37_splice|ABCD3_ENST00000315713.5_Splice_Site_p.G37_splice	p.G37_splice	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	1	133	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	37			Interaction with PEX19.|Targeting to peroxisomes.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Splice_Site	SNP	ENST00000370214.4	37	c.110_splice	CCDS749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.014|5.014	0.188187|0.188187	0.09547|0.09547	.|.	.|.	ENSG00000117528|ENSG00000117528	ENST00000454898|ENST00000394233;ENST00000370214;ENST00000315713	D|D;D;D	0.95171|0.99136	-3.63|-3.13;-3.21;-5.47	4.09|4.09	2.19|2.19	0.27852|0.27852	.|.	0.594242|0.594242	0.15978|0.15978	N|N	0.235450|0.235450	D|D	0.86356|0.86356	0.5913|0.5913	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	B|B;B;B	0.02656|0.31989	0.0|0.35;0.006;0.003	B|B;B;B	0.01281|0.20577	0.0|0.03;0.0;0.001	D|D	0.84062|0.84062	0.0375|0.0375	10|10	0.11794|0.08381	T|T	0.64|0.77	-5.6528|-5.6528	7.6496|7.6496	0.28340|0.28340	0.2061:0.0:0.7939:0.0|0.2061:0.0:0.7939:0.0	.|.	37|37;37;37	E7EUE1|P28288-2;P28288;P28288-3	.|.;ABCD3_HUMAN;.	R|S	37|37	ENSP00000403357:G37R|ENSP00000377780:G37S;ENSP00000359233:G37S;ENSP00000326880:G37S	ENSP00000403357:G37R|ENSP00000326880:G37S	G|G	+|+	1|1	0|0	ABCD3|ABCD3	94656731|94656731	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.220000|0.220000	0.24768|0.24768	0.967000|0.967000	0.29344|0.29344	0.488000|0.488000	0.27723|0.27723	0.484000|0.484000	0.47621|0.47621	GGG|GGT		0.701	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	Missense_Mutation	3	18	0	0	0	1	0	3	18					A	94884143	G	A	94884143	5	1	117	1	0	0	0	0	0	0	1	0	62	1130	39	2	111	2	ABCD3	1	94884143	Splice_Site	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	31841172	94884143	154366478	3	2119										
PRRT3	285368	broad.mit.edu	37	chr3	9989643	9989643	+	Frame_Shift_Del	DEL	G	G	-													0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	gggcctggactgggggtgctGggggatggctttgggggcgc							TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr3:9989643delG	ENST00000412055.1	-	4	1343	c.1214delC	c.(1213-1215)ccafs	p.P405fs	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	405	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGGGGTGCTGGGGGATGGCT	0.602																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(1213-1215)cafs		proline-rich transmembrane protein 3							4	5	5					3																	9989643		1728	3814	5542	SO:0001589	frameshift_variant	285368					integral to membrane		g.chr3:9989643delG	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1214delC	3.37:g.9989643delG	ENSP00000392511:p.Pro405fs					PRRT3-AS1_ENST00000431558.1_RNA	p.P405fs	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			4	1343	-			405			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Frame_Shift_Del	DEL	ENST00000412055.1	37	c.1214delC	CCDS43049.1																																																																																				0.602	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		2	4						2	4	---	---	---	---	-	9989643	G	-	9989643	7	5	117	1	0	1	0	1	0	0	0	0	12611	1348	47	0	1735	0	PRRT3	3	9989643	Frame_Shift_Del	DEL	G	TCGA-SR-A6MP-01A-11D-A35I-08		9989643	188032787	4	2120										
GPR156	165829	broad.mit.edu	37	chr3	119962585	119962585	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	atacccaagaggacaggagaTaatgaagagatggtcttact	11	6	1	4			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr3:119962585T>A	ENST00000464295.1	-	3	580	c.135A>T	c.(133-135)ttA>ttT	p.L45F	GPR156_ENST00000315843.3_Missense_Mutation_p.L45F|GPR156_ENST00000461057.1_Missense_Mutation_p.L45F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGACAGGAGATAATGAAGAGA	0.423																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(133-135)ttA>ttT		G protein-coupled receptor 156							132	118	122					3																	119962585		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962585T>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"GPCR / Class C : Orphans"	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.135A>T	3.37:g.119962585T>A	ENSP00000417261:p.Leu45Phe					GPR156_ENST00000461057.1_Missense_Mutation_p.L45F|GPR156_ENST00000315843.3_Missense_Mutation_p.L45F	p.L45F			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	580	-			45					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.135A>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.464650	0.43736	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.26067	1.76;1.76;1.77	4.99	-1.78	0.07957	.	0.405345	0.20307	N	0.094908	T	0.21267	0.0512	N	0.19112	0.55	0.38380	D	0.94511	D;D	0.58268	0.982;0.982	P;P	0.53450	0.726;0.726	T	0.04053	-1.0981	9	.	.	.	-3.1498	10.4586	0.44565	0.0:0.6504:0.0:0.3496	.	45;45	E9PFZ4;Q8NFN8	.;GP156_HUMAN	F	45	ENSP00000417261:L45F;ENSP00000324553:L45F;ENSP00000418758:L45F	.	L	-	3	2	GPR156	121445275	0.932000	0.31603	0.966000	0.40874	0.998000	0.95712	-0.185000	0.09684	-0.537000	0.06290	0.529000	0.55759	TTA		0.423	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		20	7	0	0	0	1	0	20	7					A	119962585	T	A	119962585	3	1	117	1	0	0	0	0	1	0	0	0	6661	1403	49	5	2341	5	GPR156	3	119962585	Missense_Mutation	SNP	T	TCGA-SR-A6MP-01A-11D-A35I-08	109972942	119962585	78059845	5	2121										
WHSC1	7468	broad.mit.edu	37	chr4	1918661	1918661	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tgacgccccagaaagagcttGgatatttgagaagagcctcg	12	9	0	5			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr4:1918661G>T	ENST00000382895.3	+	6	1255	c.824G>T	c.(823-825)tGg>tTg	p.W275L	WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000503128.1_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L|WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	275	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAAGAGCTTGGATATTTGAG	0.408			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(823-825)tGg>tTg		Wolf-Hirschhorn syndrome candidate 1							83	87	86					4																	1918661		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918661G>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.824G>T	4.37:g.1918661G>T	ENSP00000372351:p.Trp275Leu					WHSC1_ENST00000508803.1_Missense_Mutation_p.W275L|WHSC1_ENST00000420906.2_Missense_Mutation_p.W275L|WHSC1_ENST00000398261.1_Missense_Mutation_p.W275L|WHSC1_ENST00000514045.1_Missense_Mutation_p.W275L|WHSC1_ENST00000382891.5_Missense_Mutation_p.W275L|WHSC1_ENST00000382892.2_Missense_Mutation_p.W275L|WHSC1_ENST00000382895.3_Missense_Mutation_p.W275L	p.W275L			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	1031	+		all_epithelial(65;1.34e-05)	275			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.824G>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449241	0.84101	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.25	5.25	0.73442	PWWP (3);	0.000000	0.53938	D	0.000041	D	0.87160	0.6108	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;0.964;1.0;1.0	D;P;D;D	0.87578	0.998;0.703;0.998;0.997	D	0.87886	0.2681	10	0.87932	D	0	.	19.0434	0.93011	0.0:0.0:1.0:0.0	.	275;275;275;275	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	L	275	ENSP00000423972:W275L;ENSP00000421681:W275L;ENSP00000372347:W275L;ENSP00000372348:W275L;ENSP00000399251:W275L;ENSP00000372351:W275L;ENSP00000425761:W275L;ENSP00000422878:W275L;ENSP00000381311:W275L	ENSP00000308780:W275L	W	+	2	0	WHSC1	1888459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.755000	0.68750	2.717000	0.92951	0.655000	0.94253	TGG		0.408	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		12	85	1	0	2.27111e-07	1	2.37205e-07	12	85					T	1918661	G	T	1918661	3	4	117	1	0	0	0	0	1	0	0	0	17359	1357	47	5	834	5	WHSC1	4	1918661	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		1918661	189235615	6	2122										
CCDC99	54908	broad.mit.edu	37	chr5	169025544	169025544	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tactctggaagataacacctAttatacagatttacttcaga	5	8	2	3			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr5:169025544A>G	ENST00000265295.4	+	9	1376	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATAACACCTATTATACAGAT	0.343																																						ENST00000265295.4																			0											c.(1096-1098)tAt>tGt		spindle apparatus coiled-coil protein 1							156	162	160					5																	169025544		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169025544A>G	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1097A>G	5.37:g.169025544A>G	ENSP00000265295:p.Tyr366Cys						p.Y366C	NM_017785.4	NP_060255.3					9	1376	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.1097A>G	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.578880	0.86645	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.36520	1.25	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.961;0.999;0.999	T	0.60576	-0.7236	10	0.46703	T	0.11	-14.0864	16.2332	0.82358	1.0:0.0:0.0:0.0	.	288;267;366	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	C	366;267	ENSP00000265295:Y366C	ENSP00000265295:Y366C	Y	+	2	0	CCDC99	168958122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.857000	0.62939	2.233000	0.73108	0.523000	0.50628	TAT		0.343	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		47	50	0	0	0	1	0	47	50					G	169025544	A	G	169025544	3	3	117	1	0	0	0	0	1	0	0	0	2876	449	16	4	1127	4	CCDC99	5	169025544	Missense_Mutation	SNP	A	TCGA-SR-A6MP-01A-11D-A35I-08		169025544	11889716	7	2123										
MAML1	9794	broad.mit.edu	37	chr5	179193271	179193271	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	aacccacagcaggccaccccGgcaccagccccgggccagat	10	20	0	1			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr5:179193271G>T	ENST00000292599.3	+	2	1523	c.1260G>T	c.(1258-1260)ccG>ccT	p.P420P	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCACCCCGGCACCAGCCC	0.652																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1258-1260)ccG>ccT		mastermind-like 1 (Drosophila)							62	76	71					5																	179193271		2203	4300	6503	SO:0001819	synonymous_variant	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193271G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1260G>T	5.37:g.179193271G>T						MAML1_ENST00000503050.1_3'UTR	p.P420P	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1523	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	420						Silent	SNP	ENST00000292599.3	37	c.1260G>T	CCDS34315.1																																																																																				0.652	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	104	1	0	0.00024832	1	0.00024832	4	104					T	179193271	G	T	179193271	2	4	117	1	0	0	0	0	0	0	0	1	9205	1103	39	5		5	MAML1	5	179193271	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	10167727	179193271	1721989	8	2124										
PPARD	5467	broad.mit.edu	37	chr6	35387985	35387985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	ggcctcatgcggcagcctcaAcatggagtgccgggtgtgcg	16	12	2	0			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr6:35387985A>G	ENST00000311565.4	+	5	561	c.212A>G	c.(211-213)aAc>aGc	p.N71S	PPARD_ENST00000418635.2_Intron|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	71					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GGCAGCCTCAACATGGAGTGC	0.652																																						ENST00000311565.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(211-213)aAc>aGc		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						74	64	67					6																	35387985		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35387985A>G	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	9235	protein-coding gene	gene with protein product		600409	"peroxisome proliferative activated receptor, delta"			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.212A>G	6.37:g.35387985A>G	ENSP00000310928:p.Asn71Ser					PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.N71S|PPARD_ENST00000360694.3_Missense_Mutation_p.N71S|PPARD_ENST00000448077.2_Missense_Mutation_p.N32S|PPARD_ENST00000337400.2_Missense_Mutation_p.N71S	p.N71S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			5	561	+			71					A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.212A>G	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587711	0.46110	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000444397;ENST00000311565;ENST00000337400	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	5.15	5.15	0.70609	Zinc finger, nuclear hormone receptor-type (2);	0.154373	0.64402	D	0.000016	D	0.85474	0.5705	N	0.16656	0.425	0.80722	D	1	B;B;B	0.11235	0.003;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.81767	-0.0782	10	0.24483	T	0.36	.	15.1482	0.72674	1.0:0.0:0.0:0.0	.	32;71;71	B7Z3W1;Q03181;F1D8S7	.;PPARD_HUMAN;.	S	32;71;71;71;71	ENSP00000414372:N32S;ENSP00000353916:N71S;ENSP00000410837:N71S;ENSP00000310928:N71S;ENSP00000337063:N71S	ENSP00000310928:N71S	N	+	2	0	PPARD	35495963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.430000	0.52807	2.165000	0.68154	0.528000	0.53228	AAC		0.652	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		3	53	0	0	0	1	0	3	53					G	35387985	A	G	35387985	3	3	117	1	0	0	0	0	1	0	0	0	12298	43	2	4	235	4	PPARD	6	35387985	Missense_Mutation	SNP	A	TCGA-SR-A6MP-01A-11D-A35I-08		35387985	135727082	9	2125										
RP1L1	94137	broad.mit.edu	37	chr8	10467864	10467864	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tgctgttggttttccagatcCcctgggctctcataagttct	9	11	2	1			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10467864C>A	ENST00000382483.3	-	4	3967	c.3744G>T	c.(3742-3744)ggG>ggT	p.G1248G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1248					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCCAGATCCCCTGGGCTCT	0.552																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3742-3744)ggG>ggT		retinitis pigmentosa 1-like 1							65	68	67					8																	10467864		1989	4155	6144	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10467864C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3744G>T	8.37:g.10467864C>A							p.G1248G	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3967	-			1248					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.3744G>T	CCDS43708.1																																																																																				0.552	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			23	43	1	0	4.26978e-12	1	4.66697e-12	23	43					A	10467864	C	A	10467864	2	1	117	1	0	0	0	0	0	0	0	1	13533	610	22	5		5	RP1L1	8	10467864	Silent	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08		10467864	135896158	10	2126			1	3		3	3	768	C		2.757469e-07
RP1L1	94137	broad.mit.edu	37	chr8	10467982	10467982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	gtacgctactctcccctgagCctccagagccgctgctgatg	10	16	1	3			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10467982C>T	ENST00000382483.3	-	4	3849	c.3626G>A	c.(3625-3627)gGc>gAc	p.G1209D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1209					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCCCTGAGCCTCCAGAGCC	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(3625-3627)gGc>gAc		retinitis pigmentosa 1-like 1							33	37	36					8																	10467982		2084	4206	6290	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467982C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3626G>A	8.37:g.10467982C>T	ENSP00000371923:p.Gly1209Asp						p.G1209D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3849	-			1209					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3626G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700214	0.48307	.	.	ENSG00000183638	ENST00000382483	T	0.14640	2.49	4.74	3.87	0.44632	.	0.000000	0.35615	N	0.003081	T	0.24851	0.0603	L	0.32530	0.975	0.42507	D	0.992958	D	0.76494	0.999	D	0.75484	0.986	T	0.01884	-1.1254	10	0.87932	D	0	-23.6406	11.7518	0.51853	0.0:0.9151:0.0:0.0849	.	1209	A6NKC6	.	D	1209	ENSP00000371923:G1209D	ENSP00000371923:G1209D	G	-	2	0	RP1L1	10505392	0.991000	0.36638	0.205000	0.23548	0.044000	0.14063	3.786000	0.55431	1.202000	0.43218	0.561000	0.74099	GGC		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			15	30	0	0	0	1	0	15	30					T	10467982	C	T	10467982	3	4	117	1	0	0	0	0	1	0	0	0	13533	739	26	3	3580	3	RP1L1	8	10467982	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08	118	10467982	135896040	11	2127			1	3		3	3	768	C		2.757469e-07
RP1L1	94137	broad.mit.edu	37	chr8	10468631	10468631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	agaatggtcatccccagggtCcacctcggggcctctcaggc	12	15	2	1	rs144078596	byFrequency	TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:10468631C>T	ENST00000382483.3	-	4	3200	c.2977G>A	c.(2977-2979)Gac>Aac	p.D993N		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	993					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCCAGGGTCCACCTCGGGG	0.642													C|||	17	0.00339457	0.0129	0	5008	,	,		15720	0		0	False		,,,				2504	0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(2977-2979)Gac>Aac		retinitis pigmentosa 1-like 1		C	ASN/ASP	25,3741		0,25,1858	47	51	50		2977	3.8	0.3	8	dbSNP_134	50	1,8185		0,1,4092	yes	missense	RP1L1	NM_178857.5	23	0,26,5950	TT,TC,CC		0.0122,0.6638,0.2175	probably-damaging	993/2401	10468631	26,11926	1883	4093	5976	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468631C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2977G>A	8.37:g.10468631C>T	ENSP00000371923:p.Asp993Asn						p.D993N	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3200	-			993					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.2977G>A	CCDS43708.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	11.59	1.683576	0.29872	0.006638	1.22E-4	ENSG00000183638	ENST00000382483	T	0.06371	3.31	4.73	3.83	0.44106	.	1.052620	0.07606	N	0.924514	T	0.04318	0.0119	L	0.32530	0.975	0.09310	N	1	P	0.44090	0.826	B	0.39152	0.292	T	0.37502	-0.9703	10	0.66056	D	0.02	-11.3924	7.2386	0.26084	0.1694:0.7412:0.0:0.0894	.	993	A6NKC6	.	N	993	ENSP00000371923:D993N	ENSP00000371923:D993N	D	-	1	0	RP1L1	10506041	0.009000	0.17119	0.262000	0.24481	0.050000	0.14768	0.552000	0.23376	1.159000	0.42565	0.462000	0.41574	GAC		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			23	62	0	0	0	1	0	23	62					T	10468631	C	T	10468631	3	4	117	1	0	0	0	0	1	0	0	0	13533	855	30	3	4229	3	RP1L1	8	10468631	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08	649	10468631	135895391	12	2128			1	3		3	3	768	C		2.757469e-07
C8orf80	389643	broad.mit.edu	37	chr8	27918013	27918013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	cacgtccctacagaagccccGctggcaggctttgatgctct	10	15	1	2	rs563017713		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:27918013G>A	ENST00000413272.2	-	8	1169	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	NUGGC_ENST00000341513.6_Missense_Mutation_p.R343W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	343					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CAGAAGCCCCGCTGGCAGGCT	0.552											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		19318	0.001		0	False		,,,				2504	0					ENST00000413272.2																			0											c.(1027-1029)Cgg>Tgg		nuclear GTPase, germinal center associated							52	54	53					8																	27918013		1948	4129	6077	SO:0001583	missense	389643							g.chr8:27918013G>A	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1027C>T	8.37:g.27918013G>A	ENSP00000408697:p.Arg343Trp		OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	NUGGC_ENST00000341513.6_Missense_Mutation_p.R343W	p.R343W	NM_001010906.1	NP_001010906.1					8	1169	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1027C>T	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774709	0.70107	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.16324	2.35;2.36	5.67	2.65	0.31530	.	0.144521	0.44483	D	0.000444	T	0.36110	0.0955	M	0.63428	1.95	0.36557	D	0.87218	D	0.89917	1.0	D	0.73708	0.981	T	0.43686	-0.9376	10	0.66056	D	0.02	-16.6457	12.5903	0.56439	0.0:0.0:0.6193:0.3807	.	343	Q68CJ6	SLIP_HUMAN	W	343	ENSP00000408697:R343W;ENSP00000345031:R343W	ENSP00000345031:R343W	R	-	1	2	C8orf80	27973932	0.099000	0.21834	0.982000	0.44146	0.990000	0.78478	0.498000	0.22530	0.647000	0.30713	0.585000	0.79938	CGG		0.552	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		14	17	0	0	0	1	0	14	17					A	27918013	G	A	27918013	3	1	117	1	0	0	0	0	1	0	0	0	2439	1086	38	1	1411	1	C8orf80	8	27918013	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	17449382	27918013	118446009	13	2129										
SCRIB	23513	broad.mit.edu	37	chr8	144886884	144886884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	atgtggcagagggctgggagGaagagggcccccagcctccc	17	12	0	2			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144886884G>A	ENST00000320476.3	-	21	2869	c.2863C>T	c.(2863-2865)Cct>Tct	p.P955S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000356994.2_Missense_Mutation_p.P955S	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	955	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCTGGGAGGAAGAGGGCCC	0.697																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2863-2865)Cct>Tct		scribbled planar cell polarity protein							23	23	23					8																	144886884		2198	4298	6496	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144886884G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2863C>T	8.37:g.144886884G>A	ENSP00000322938:p.Pro955Ser					SCRIB_ENST00000377533.3_Missense_Mutation_p.P874S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P955S	p.P955S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		21	2869	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		955			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2863C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	8.055	0.766866	0.15983	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.38401	1.14;1.14;1.14	3.79	0.348	0.16026	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.27933	0.0688	L	0.57536	1.79	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.002;0.005	T	0.31024	-0.9958	9	0.16420	T	0.52	.	4.7128	0.12880	0.1021:0.1378:0.602:0.1581	.	955;955	Q14160;Q14160-3	SCRIB_HUMAN;.	S	955;955;874;324	ENSP00000349486:P955S;ENSP00000322938:P955S;ENSP00000366756:P874S	ENSP00000322938:P955S	P	-	1	0	SCRIB	144958872	0.000000	0.05858	0.002000	0.10522	0.125000	0.20455	-0.110000	0.10824	0.231000	0.21079	0.448000	0.29417	CCT		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		11	10	0	0	0	1	0	11	10					A	144886884	G	A	144886884	3	1	117	1	0	0	0	0	1	0	0	0	13937	1174	41	3	2172	3	SCRIB	8	144886884	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	116968871	144886884	1477138	14	2130			2	4	134418253	7	7	8648	G		4.766319e-16
SCRIB	23513	broad.mit.edu	37	chr8	144888620	144888620	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	ggactccagcccgggccgcaGggccttcctcggacacccga	13	18	0	0			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144888620G>C	ENST00000320476.3	-	18	2309	c.2303C>G	c.(2302-2304)cCt>cGt	p.P768R	SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000356994.2_Missense_Mutation_p.P768R	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	768	Interaction with ARHGEF7.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCGGGCCGCAGGGCCTTCCTC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2302-2304)cCt>cGt		scribbled planar cell polarity protein							30	31	31					8																	144888620		2196	4297	6493	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144888620G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2303C>G	8.37:g.144888620G>C	ENSP00000322938:p.Pro768Arg					SCRIB_ENST00000377533.3_Missense_Mutation_p.P687R|SCRIB_ENST00000320476.3_Missense_Mutation_p.P768R	p.P768R	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		18	2309	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		768			Interaction with ARHGEF7.|PDZ 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2303C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.007374	0.93287	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.89	4.89	0.63831	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.63094	0.2482	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72080	-0.4398	9	0.87932	D	0	.	17.0679	0.86564	0.0:0.0:1.0:0.0	.	768;768	Q14160;Q14160-3	SCRIB_HUMAN;.	R	768;768;687;137;65	ENSP00000349486:P768R;ENSP00000322938:P768R;ENSP00000366756:P687R;ENSP00000433546:P65R	ENSP00000322938:P768R	P	-	2	0	SCRIB	144960608	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	7.300000	0.78841	2.283000	0.76528	0.651000	0.88453	CCT		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		6	7	0	0	0	1	0	6	7					C	144888620	G	C	144888620	3	2	117	1	0	0	0	0	1	0	0	0	13937	1000	35	5	2744	5	SCRIB	8	144888620	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	1736	144888620	1475402	15	2131			2	4	134418253	7	7	8648	G		4.766319e-16
SCRIB	23513	broad.mit.edu	37	chr8	144890795	144890795	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	caaccttgacagagggcgcaGaaaccacggccccctccttg	10	16	0	3			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144890795G>A	ENST00000320476.3	-	15	2105	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000356994.2_Missense_Mutation_p.S700F	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	700	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.S700F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAGGGCGCAGAAACCACGGC	0.652																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			1	Substitution - Missense(1)	p.S700F(1)	pancreas(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2098-2100)tCt>tTt		scribbled planar cell polarity protein							153	131	138					8																	144890795		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890795G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2099C>T	8.37:g.144890795G>A	ENSP00000322938:p.Ser700Phe					SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F|SCRIB_ENST00000320476.3_Missense_Mutation_p.S700F	p.S700F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	2105	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		700			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2099C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	12.91	2.079560	0.36662	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539;ENST00000531942	T;T;T;T	0.37915	1.4;1.37;1.17;1.82	4.2	4.2	0.49525	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.20074	N	0.999939	P;P	0.42296	0.666;0.775	B;B	0.38056	0.202;0.264	T	0.11916	-1.0568	9	0.72032	D	0.01	.	13.6545	0.62330	0.0:0.0:1.0:0.0	.	700;700	Q14160;Q14160-3	SCRIB_HUMAN;.	F	700;700;619;69;18	ENSP00000349486:S700F;ENSP00000322938:S700F;ENSP00000366756:S619F;ENSP00000433546:S18F	ENSP00000322938:S700F	S	-	2	0	SCRIB	144962783	0.101000	0.21875	0.009000	0.14445	0.059000	0.15707	1.526000	0.35964	2.074000	0.62210	0.401000	0.26515	TCT		0.652	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		25	21	0	0	0	1	0	25	21					A	144890795	G	A	144890795	3	1	117	1	0	0	0	0	1	0	0	0	13937	942	33	3	2960	3	SCRIB	8	144890795	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	2175	144890795	1473227	16	2132			2	4	134418253	7	7	8648	G		4.766319e-16
SCRIB	23513	broad.mit.edu	37	chr8	144891006	144891006	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	cccatcaggctgcatgccctGcagcagagccacaacggcct	10	17	1	1			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144891006G>A	ENST00000320476.3	-	15	1894	c.1888C>T	c.(1888-1890)Cag>Tag	p.Q630*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000356994.2_Nonsense_Mutation_p.Q630*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	630	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCATGCCCTGCAGCAGAGCC	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1888-1890)Cag>Tag		scribbled planar cell polarity protein							84	90	88					8																	144891006		2203	4300	6503	SO:0001587	stop_gained	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891006G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1888C>T	8.37:g.144891006G>A	ENSP00000322938:p.Gln630*					SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q549*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.Q630*	p.Q630*	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1894	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		630			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	c.1888C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	39	7.547443	0.98352	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.5855	0.84727	0.0:0.0:1.0:0.0	.	.	.	.	X	630;630;549	.	ENSP00000322938:Q630X	Q	-	1	0	SCRIB	144962994	1.000000	0.71417	0.999000	0.59377	0.214000	0.24535	9.369000	0.97156	2.153000	0.67306	0.401000	0.26515	CAG		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		53	85	0	0	0	1	0	53	85					A	144891006	G	A	144891006	4	1	117	1	0	0	0	0	0	1	0	0	13937	1328	46	3	3171	3	SCRIB	8	144891006	Nonsense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	211	144891006	1473016	17	2133			2	4	134418253	7	7	8648	G		4.766319e-16
SCRIB	23513	broad.mit.edu	37	chr8	144891186	144891186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	cagtgcgtcctctgcgaaatGcaccgtgggctgtgcggaca	14	12	1	0			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144891186G>A	ENST00000320476.3	-	15	1714	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y	SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000356994.2_Missense_Mutation_p.H570Y	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	570	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCGAAATGCACCGTGGGC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1708-1710)Cat>Tat		scribbled planar cell polarity protein							41	41	41					8																	144891186		2202	4300	6502	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891186G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1708C>T	8.37:g.144891186G>A	ENSP00000322938:p.His570Tyr					SCRIB_ENST00000377533.3_Missense_Mutation_p.H489Y|SCRIB_ENST00000320476.3_Missense_Mutation_p.H570Y	p.H570Y	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1714	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		570			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1708C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059063	0.36373	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78246	-1.16;-1.16;-1.16	4.79	4.79	0.61399	.	.	.	.	.	T	0.77032	0.4071	L	0.46157	1.445	0.54753	D	0.999989	P;P	0.48162	0.906;0.881	B;P	0.46172	0.309;0.506	T	0.80289	-0.1445	9	0.59425	D	0.04	.	16.8367	0.85958	0.0:0.0:1.0:0.0	.	570;570	Q14160;Q14160-3	SCRIB_HUMAN;.	Y	570;570;489	ENSP00000349486:H570Y;ENSP00000322938:H570Y;ENSP00000366756:H489Y	ENSP00000322938:H570Y	H	-	1	0	SCRIB	144963174	1.000000	0.71417	0.944000	0.38274	0.008000	0.06430	8.934000	0.92915	2.225000	0.72522	0.401000	0.26515	CAT		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		33	31	0	0	0	1	0	33	31					A	144891186	G	A	144891186	3	1	117	1	0	0	0	0	1	0	0	0	13937	1319	46	3	3351	3	SCRIB	8	144891186	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	180	144891186	1472836	18	2134			2	4	134418253	7	7	8648	G		4.766319e-16
SCRIB	23513	broad.mit.edu	37	chr8	144892898	144892898	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tcagcgtcctcatcacctatGggggcctccaggaactggat	11	13	3	0			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144892898G>A	ENST00000320476.3	-	12	1368	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000356994.2_Silent_p.P454P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	454	Sufficient for targeting to adherens junction and to inhibit cell proliferation.		P -> S (in NTD; protein interactions not affected by the mutation; shows reduced protein localization to the cell membrane). {ECO:0000269|PubMed:22095531}.		activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CATCACCTATGGGGGCCTCCA	0.662																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1360-1362)ccC>ccT		scribbled planar cell polarity protein							90	88	88					8																	144892898		2203	4300	6503	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892898G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1362C>T	8.37:g.144892898G>A						SCRIB_ENST00000377533.3_Silent_p.P373P|SCRIB_ENST00000320476.3_Silent_p.P454P	p.P454P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		12	1368	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		454			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.1362C>T	CCDS6411.1																																																																																				0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		58	65	0	0	0	1	0	58	65					A	144892898	G	A	144892898	2	1	117	1	0	0	0	0	0	0	0	1	13937	1335	47	3		3	SCRIB	8	144892898	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	1712	144892898	1471124	19	2135			2	4	134418253	7	7	8648	G		4.766319e-16
SCRIB	23513	broad.mit.edu	37	chr8	144895531	144895531	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	cagctgttccagcttgaccaGaaatgacagggacctgcaga	11	11	0	4			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr8:144895531G>C	ENST00000320476.3	-	6	523	c.517C>G	c.(517-519)Ctg>Gtg	p.L173V	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000356994.2_Missense_Mutation_p.L173V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	173	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCTTGACCAGAAATGACAGG	0.642																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(517-519)Ctg>Gtg		scribbled planar cell polarity protein							70	71	71					8																	144895531		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895531G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.517C>G	8.37:g.144895531G>C	ENSP00000322938:p.Leu173Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.L92V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L173V	p.L173V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	523	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		173			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.517C>G	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735786	0.89482	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.34275	1.37;1.37;1.37	4.28	4.28	0.50868	.	.	.	.	.	T	0.63510	0.2517	M	0.83483	2.645	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.98	T	0.71444	-0.4591	9	0.87932	D	0	.	16.0607	0.80836	0.0:0.0:1.0:0.0	.	173;173	Q14160;Q14160-3	SCRIB_HUMAN;.	V	173;173;92	ENSP00000349486:L173V;ENSP00000322938:L173V;ENSP00000366756:L92V	ENSP00000322938:L173V	L	-	1	2	SCRIB	144967519	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.256000	0.72473	2.069000	0.61940	0.563000	0.77884	CTG		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		29	55	0	0	0	1	0	29	55					C	144895531	G	C	144895531	3	2	117	1	0	0	0	0	1	0	0	0	13937	933	33	5	4578	5	SCRIB	8	144895531	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	2633	144895531	1468491	20	2136			2	4	134418253	7	7	8648	G		4.766319e-16
NUP98	4928	broad.mit.edu	37	chr11	3723762	3723762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	caatctgatgattttctagtTcatgagagccattcagctgt	8	8	4	3			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr11:3723762T>C	ENST00000324932.7	-	23	3863	c.3443A>G	c.(3442-3444)gAa>gGa	p.E1148G	NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G|NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1165					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATTTTCTAGTTCATGAGAGCC	0.458			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3442-3444)gAa>gGa		nucleoporin 98kDa							131	121	125					11																	3723762		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3723762T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3443A>G	11.37:g.3723762T>C	ENSP00000316032:p.Glu1148Gly					NUP98_ENST00000355260.3_Missense_Mutation_p.E1148G|NUP98_ENST00000359171.4_Missense_Mutation_p.E1148G	p.E1148G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	23	3863	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1165					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.3443A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.230529	0.39399	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.35	5.35	0.76521	.	0.494558	0.22873	N	0.054611	T	0.27967	0.0689	N	0.21448	0.665	0.23162	N	0.998191	B;B	0.15930	0.015;0.005	B;B	0.12156	0.007;0.004	T	0.13176	-1.0519	9	0.22706	T	0.39	-10.1208	10.5993	0.45358	0.0:0.0783:0.0:0.9217	.	1148;1148	P52948-2;P52948-5	.;.	G	1148	.	ENSP00000316032:E1148G	E	-	2	0	NUP98	3680338	0.799000	0.28903	0.994000	0.49952	0.959000	0.62525	4.389000	0.59639	2.018000	0.59344	0.379000	0.24179	GAA		0.458	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		7	82	0	0	0	1	0	7	82					C	3723762	T	C	3723762	3	2	117	1	0	0	0	0	1	0	0	0	10773	1783	62	4	2003	4	NUP98	11	3723762	Missense_Mutation	SNP	T	TCGA-SR-A6MP-01A-11D-A35I-08		3723762	131282754	21	2137										
LEPREL2	2784	broad.mit.edu	37	chr12	6948498	6948500	+	5'Flank	DEL	AGG	AGG	-													0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	agaactgctgcaggagtcacAggaggaggaggaagaggaag					rs376000118		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr12:6948498_6948500delAGG	ENST00000229264.3	+	0	0				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000251761.8_RNA|GNB3_ENST00000435982.2_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CAGGAGTCACaggaggaggagga	0.606																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2																																				SO:0001631	upstream_gene_variant	10536							g.chr12:6948498_6948500delAGG		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948507_6948509delAGG	Exception_encountered					LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	2117_2119	+								Q96B71|Q9BQC0	RNA	DEL	ENST00000229264.3	37		CCDS8564.1																																																																																				0.606	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		2	4						2	4	---	---	---	---	-	6948500	AGG	-	6948498	6	5	117	0	1	1	0	1	0	0	0	0	8731	188	7	0		0	LEPREL2	12	6948498	5'Flank	DEL	AGG	TCGA-SR-A6MP-01A-11D-A35I-08		6948498	126903397	22	2138										
AKAP13	11214	broad.mit.edu	37	chr15	86198964	86198964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tctttctcccttccggaggcAcagctgggggcctgggaaaa	13	12	2	0	rs555050692		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr15:86198964A>G	ENST00000394518.2	+	11	4786	c.4691A>G	c.(4690-4692)cAc>cGc	p.H1564R	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H1564R|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1564					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCCGGAGGCACAGCTGGGGG	0.562													A|||	1	0.000199681	8e-04	0	5008	,	,		17823	0		0	False		,,,				2504	0				Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4690-4692)cAc>cGc		A kinase (PRKA) anchor protein 13							84	85	84					15																	86198964		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86198964A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4691A>G	15.37:g.86198964A>G	ENSP00000378026:p.His1564Arg					AKAP13_ENST00000361243.2_Missense_Mutation_p.H1564R|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	p.H1564R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			11	4786	+			1564					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4691A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618159	0.87359	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.36157	1.28;1.27	6.17	6.17	0.99709	.	.	.	.	.	T	0.60612	0.2282	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.61569	-0.7036	9	0.54805	T	0.06	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	1564;1564;1564	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	R	1564;1564;1563;1563;204	ENSP00000354718:H1564R;ENSP00000378026:H1564R	ENSP00000354718:H1564R	H	+	2	0	AKAP13	83999968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.131000	0.89601	2.371000	0.80710	0.533000	0.62120	CAC		0.562	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		28	31	0	0	0	1	0	28	31					G	86198964	A	G	86198964	3	3	117	1	0	0	0	0	1	0	0	0	449	159	6	4	4729	4	AKAP13	15	86198964	Missense_Mutation	SNP	A	TCGA-SR-A6MP-01A-11D-A35I-08		86198964	16332428	23	2139										
ZKSCAN2	342357	broad.mit.edu	37	chr16	25264280	25264280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	aatgtacctgggacccagcaGgaagccgtgtggttgtcact	13	10	1	0			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr16:25264280G>C	ENST00000328086.7	-	3	1468	c.665C>G	c.(664-666)cCt>cGt	p.P222R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	222					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGACCCAGCAGGAAGCCGTGT	0.493																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(664-666)cCt>cGt		zinc finger with KRAB and SCAN domains 2							156	154	155					16																	25264280		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25264280G>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.665C>G	16.37:g.25264280G>C	ENSP00000331626:p.Pro222Arg						p.P222R	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	3	1468	-			222					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.665C>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246960	0.22796	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.13657	2.57	5.62	5.62	0.85841	Krueppel-associated box (1);	0.945753	0.08821	N	0.888710	T	0.14570	0.0352	L	0.40543	1.245	0.09310	N	1	P;B	0.37276	0.589;0.435	B;B	0.35073	0.195;0.112	T	0.22556	-1.0213	10	0.22109	T	0.4	-0.549	15.1626	0.72795	0.0:0.0:1.0:0.0	.	222;222	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	R	222	ENSP00000331626:P222R	ENSP00000331626:P222R	P	-	2	0	ZKSCAN2	25171781	0.180000	0.23148	0.025000	0.17156	0.039000	0.13416	2.536000	0.45693	2.643000	0.89663	0.655000	0.94253	CCT		0.493	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		4	157	0	0	0	1	0	4	157					C	25264280	G	C	25264280	3	2	117	1	0	0	0	0	1	0	0	0	17684	1000	35	5	2258	5	ZKSCAN2	16	25264280	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		25264280	65090473	24	2140										
TCAP	8557	broad.mit.edu	37	chr17	37822068	37822068	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tcgccctggctgatgatgcgGatgggcatcctcggccgtgg	16	12	0	2			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822068G>A	ENST00000309889.2	+	2	1383	c.210G>A	c.(208-210)cgG>cgA	p.R70R	TCAP_ENST00000578283.1_Intron|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	70			R -> W (in CMD1N). {ECO:0000269|PubMed:16352453}.		adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATGATGCGGATGGGCATCC	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(208-210)cgG>cgA		titin-cap							27	25	26					17																	37822068		2200	4299	6499	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822068G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.210G>A	17.37:g.37822068G>A						TCAP_ENST00000578283.1_Intron	p.R70R			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1383	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		70		R -> W (in CMD1N).			Q96L27	Silent	SNP	ENST00000309889.2	37	c.210G>A	CCDS11342.1																																																																																				0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		8	6	0	0	0	1	0	8	6					A	37822068	G	A	37822068	2	1	117	1	0	0	0	0	0	0	0	1	15663	1161	41	3		3	TCAP	17	37822068	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08		37822068	43373142	25	2141			3	5		4	3	164	N	G	1.23982e-08
TCAP	8557	broad.mit.edu	37	chr17	37822170	37822170	+	Silent	SNP	G	G	A													0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	aagatgggcgccaccaaggaGgagcgtgaggacacccccat							TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822170G>A	ENST00000309889.2	+	2	1485	c.312G>A	c.(310-312)gaG>gaA	p.E104E	TCAP_ENST00000578283.1_Silent_p.E80E|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	104					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACCAAGGAGGAGCGTGAGG	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(310-312)gaG>gaA		titin-cap							28	28	28					17																	37822170		2203	4299	6502	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822170G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.312G>A	17.37:g.37822170G>A						TCAP_ENST00000578283.1_Silent_p.E80E	p.E104E			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1485	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		104					Q96L27	Silent	SNP	ENST00000309889.2	37	c.312G>A	CCDS11342.1																																																																																				0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		5	19	0	0	0	1	0	5	19					A	37822170	G	A	37822170	2	1	117	1	0	0	0	0	0	0	0	1	15663	991	35	3		3	TCAP	17	37822170	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	102	37822170	43373040	26	2142	16	2	3	5		4	3	164	N	G	1.23982e-08
TCAP	8557	broad.mit.edu	37	chr17	37822179	37822179	+	Missense_Mutation	SNP	G	G	C													0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	gccaccaaggaggagcgtgaGgacacccccatccagcttca							TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822179G>C	ENST00000309889.2	+	2	1494	c.321G>C	c.(319-321)gaG>gaC	p.E107D	TCAP_ENST00000578283.1_Missense_Mutation_p.E83D|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	107					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGAGCGTGAGGACACCCCCA	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(319-321)gaG>gaC		titin-cap							32	32	32					17																	37822179		2202	4299	6501	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822179G>C	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.321G>C	17.37:g.37822179G>C	ENSP00000312624:p.Glu107Asp					TCAP_ENST00000578283.1_Missense_Mutation_p.E83D	p.E107D			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1494	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		107					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.321G>C	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513140	0.12944	.	.	ENSG00000173991	ENST00000309889	D	0.87334	-2.24	5.71	3.72	0.42706	.	0.185852	0.38111	N	0.001812	T	0.77191	0.4094	N	0.14661	0.345	0.36777	D	0.884141	B	0.25048	0.117	B	0.35655	0.207	T	0.70773	-0.4781	10	0.28530	T	0.3	-32.8346	7.5129	0.27583	0.3235:0.0:0.6765:0.0	.	107	O15273	TELT_HUMAN	D	107	ENSP00000312624:E107D	ENSP00000312624:E107D	E	+	3	2	TCAP	35075705	0.993000	0.37304	1.000000	0.80357	0.044000	0.14063	0.446000	0.21694	0.755000	0.32990	0.462000	0.41574	GAG		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		6	22	0	0	0	1	0	6	22					C	37822179	G	C	37822179	3	2	117	1	0	0	0	0	1	0	0	0	15663	991	35	5	327	5	TCAP	17	37822179	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	9	37822179	43373031	27	2143	16	2	3	5		4	3	164	N	G	1.23982e-08
TCAP	8557	broad.mit.edu	37	chr17	37822231	37822231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	cgctggagacagccctgggtGgccagtgtgtggaccgccag	17	12	0	1			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:37822231G>A	ENST00000309889.2	+	2	1546	c.373G>A	c.(373-375)Ggc>Agc	p.G125S	TCAP_ENST00000578283.1_Missense_Mutation_p.G101S|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	125					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCCCTGGGTGGCCAGTGTGT	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(373-375)Ggc>Agc		titin-cap							42	41	41					17																	37822231		2201	4299	6500	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822231G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"19 kDa sarcomeric protein"	604488	"limb girdle muscular dystrophy 2G (autosomal recessive)", "titin-cap (telethonin)"	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.373G>A	17.37:g.37822231G>A	ENSP00000312624:p.Gly125Ser					TCAP_ENST00000578283.1_Missense_Mutation_p.G101S	p.G125S			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1546	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		125					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.373G>A	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011207	0.54361	.	.	ENSG00000173991	ENST00000309889	D	0.89485	-2.52	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	D	0.91387	0.5132	10	0.87932	D	0	-28.1079	14.258	0.66065	0.0:0.1494:0.8506:0.0	.	125	O15273	TELT_HUMAN	S	125	ENSP00000312624:G125S	ENSP00000312624:G125S	G	+	1	0	TCAP	35075757	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.544000	0.60691	2.695000	0.91970	0.462000	0.41574	GGC		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		15	38	0	0	0	1	0	15	38					A	37822231	G	A	37822231	3	1	117	1	0	0	0	0	1	0	0	0	15663	1348	47	3	379	3	TCAP	17	37822231	Missense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	52	37822231	43372979	28	2144			3	5		4	3	164	N	G	1.23982e-08
GOSR2	9570	broad.mit.edu	37	chr17	45012514	45012514	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	aatattttagatggactgagGacccagagactgaccttgaa	10	7	0	5			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:45012514G>A	ENST00000393456.2	+	5	513	c.456G>A	c.(454-456)agG>agA	p.R152R	GOSR2_ENST00000576910.2_Intron|RP11-156P1.2_ENST00000571841.1_Silent_p.R152R|GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000415811.2_Silent_p.R152R|GOSR2_ENST00000225567.4_Silent_p.R152R	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	152					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATGGACTGAGGACCCAGAGAC	0.463																																						ENST00000415811.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(454-456)agG>agA		golgi SNAP receptor complex member 2							140	135	136					17																	45012514		2203	4300	6503	SO:0001819	synonymous_variant	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45012514G>A	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.456G>A	17.37:g.45012514G>A						RP11-156P1.2_ENST00000571841.1_Silent_p.R152R|GOSR2_ENST00000439730.2_Silent_p.R152R|GOSR2_ENST00000393456.2_Silent_p.R152R|GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000225567.4_Silent_p.R152R	p.R152R	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	511	+			152					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Silent	SNP	ENST00000393456.2	37	c.456G>A	CCDS42355.1																																																																																				0.463	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			39	54	0	0	0	1	0	39	54					A	45012514	G	A	45012514	2	1	117	1	0	0	0	0	0	0	0	1	6578	1165	41	3		3	GOSR2	17	45012514	Silent	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	7190283	45012514	36182696	29	2145										
SOX9	6662	broad.mit.edu	37	chr17	70117789	70117789	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	ggtgctcaaaggctacgactGgacgctggtgcccatgccgg	15	12	1	0			TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr17:70117789G>A	ENST00000245479.2	+	1	629	c.257G>A	c.(256-258)tGg>tAg	p.W86*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	86					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GGCTACGACTGGACGCTGGTG	0.652																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26	GRCh37	CM971404	SOX9	M		c.(256-258)tGg>tAg		SRY (sex determining region Y)-box 9							50	35	40					17																	70117789		2202	4300	6502	SO:0001587	stop_gained	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70117789G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.257G>A	17.37:g.70117789G>A	ENSP00000245479:p.Trp86*						p.W86*	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		1	629	+		Colorectal(1115;0.245)	86					Q53Y80	Nonsense_Mutation	SNP	ENST00000245479.2	37	c.257G>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	41	8.778802	0.98950	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6249	0.84967	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000245479:W86X	W	+	2	0	SOX9	67629384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.577000	0.98196	1.917000	0.55516	0.491000	0.48974	TGG		0.652	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		4	1	0	0	0	1	0	4	1					A	70117789	G	A	70117789	4	1	117	1	0	0	0	0	0	1	0	0	14958	1357	47	3	259	3	SOX9	17	70117789	Nonsense_Mutation	SNP	G	TCGA-SR-A6MP-01A-11D-A35I-08	25105275	70117789	11077421	30	2146										
BPIL3	128859	broad.mit.edu	37	chr20	31622624	31622624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	3	1	1.34418282548476	2.12828947368421	1.13508771929825	1	1	0	tgaacatcacagccaccaacCggcttctgcgggatgaggag	12	12	2	2	rs371915417		TCGA-SR-A6MP-01A-11D-A35I-08	TCGA-SR-A6MP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17a33eeb-0950-4883-a62a-91f4f2ab7f5f	e0435371-7d5c-44fb-aae8-2e7796e59898	g.chr20:31622624C>T	ENST00000349552.1	+	4	358	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	120						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCCACCAACCGGCTTCTGCG	0.577																																						ENST00000349552.1																			0											c.(358-360)Cgg>Tgg		BPI fold containing family B, member 6		T	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94	73	80		358	1.9	1	20		80	0,8600		0,0,4300	no	missense	BPIFB6	NM_174897.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	120/454	31622624	1,13005	2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31622624C>T	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.358C>T	20.37:g.31622624C>T	ENSP00000344929:p.Arg120Trp						p.R120W	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			4	358	+			120						Missense_Mutation	SNP	ENST00000349552.1	37	c.358C>T	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.643887	0.29246	2.27E-4	0.0	ENSG00000167104	ENST00000349552	T	0.06294	3.32	4.21	1.85	0.25348	.	0.260933	0.25692	N	0.028925	T	0.07908	0.0198	M	0.73598	2.24	0.20403	N	0.999909	B	0.16802	0.019	B	0.09377	0.004	T	0.23332	-1.0191	10	0.62326	D	0.03	.	4.2812	0.10833	0.2819:0.5968:0.0:0.1213	.	120	Q8NFQ5	BPIB6_HUMAN	W	120	ENSP00000344929:R120W	ENSP00000344929:R120W	R	+	1	2	BPIFB6	31086285	0.996000	0.38824	1.000000	0.80357	0.580000	0.36256	0.139000	0.16036	0.894000	0.36317	-0.282000	0.10007	CGG		0.577	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		21	37	0	0	0	1	0	21	37					T	31622624	C	T	31622624	3	4	117	1	0	0	0	0	1	0	0	0	1493	643	23	2	372	2	BPIL3	20	31622624	Missense_Mutation	SNP	C	TCGA-SR-A6MP-01A-11D-A35I-08		31622624	31402896	31	2147										
FLG	2312	broad.mit.edu	37	chr1	152277659	152277659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccacgatggtttctggaagCagacccagaccacctctcag	9	14	2	2			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr1:152277659C>T	ENST00000368799.1	-	3	9738	c.9703G>A	c.(9703-9705)Gct>Act	p.A3235T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3235	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGGAAGCAGACCCAGAC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9703-9705)Gct>Act		filaggrin							176	187	183					1																	152277659		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277659C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9703G>A	1.37:g.152277659C>T	ENSP00000357789:p.Ala3235Thr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A3235T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9738	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3235			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9703G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810253	0.32053	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02498	4.27	3.29	-3.18	0.05186	.	.	.	.	.	T	0.01489	0.0048	M	0.63428	1.95	0.09310	N	1	D	0.53885	0.963	P	0.50570	0.644	T	0.31530	-0.9940	9	0.20519	T	0.43	0.5134	4.1696	0.10324	0.0:0.3385:0.3336:0.3279	.	3235	P20930	FILA_HUMAN	T	3235;173	ENSP00000357789:A3235T	ENSP00000357786:A173T	A	-	1	0	FLG	150544283	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-2.622000	0.00877	-0.887000	0.03961	0.449000	0.29647	GCT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	210	0	0	0	1	0	12	210					T	152277659	C	T	152277659	3	4	118	1	0	0	0	0	1	0	0	0	5922	710	25	3	2486	3	FLG	1	152277659	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		152277659	96972962	1	2148										
MSH6	2956	broad.mit.edu	37	chr2	48032102	48032102	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttacgtccctgctgaagtGtgcaggctcacaccaattga	10	11	1	2			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:48032102G>T	ENST00000234420.5	+	6	3644	c.3492G>T	c.(3490-3492)gtG>gtT	p.V1164V	MSH6_ENST00000538136.1_Silent_p.V862V|MSH6_ENST00000540021.1_Silent_p.V1034V|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1164					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGCTGAAGTGTGCAGGCTCA	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3490-3492)gtG>gtT	Mismatch excision repair (MMR)	mutS homolog 6							168	145	153					2																	48032102		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032102G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3492G>T	2.37:g.48032102G>T						MSH6_ENST00000538136.1_Silent_p.V862V|MSH6_ENST00000540021.1_Silent_p.V1034V|FBXO11_ENST00000405808.1_Intron	p.V1164V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	3644	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1164					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.3492G>T	CCDS1836.1																																																																																				0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		3	49	1	0	1	1	1	3	49					T	48032102	G	T	48032102	2	4	118	1	0	0	0	0	0	0	0	1	9874	1364	48	5		5	MSH6	2	48032102	Silent	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		48032102	195167271	2	2149										
TTN	7273	broad.mit.edu	37	chr2	179611367	179611367	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgtttacagcatgacacaTgtactctcccccttctcctt	5	14	2	1			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:179611367T>A	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M5254L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATGACACATGTACTCTCCC	0.418																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15760-15762)Atg>Ttg		titin							152	142	146					2																	179611367		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611367T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4719A>T	2.37:g.179611367T>A						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	p.M5254L	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15982	-			8773			Ig-like 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15760A>T		.	.	.	.	.	.	.	.	.	.	T	12.40	1.925604	0.34002	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.39406	1.08	5.95	4.78	0.61160	.	.	.	.	.	T	0.28101	0.0693	N	0.19112	0.55	0.80722	D	1	B	0.24092	0.097	B	0.28784	0.094	T	0.06881	-1.0802	9	0.37606	T	0.19	.	8.3273	0.32165	0.1169:0.0:0.2686:0.6145	.	5254	Q8WZ42-6	.	L	5254;535	ENSP00000354117:M5254L	ENSP00000304714:M535L	M	-	1	0	TTN	179319612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.875000	0.39578	1.041000	0.40125	0.533000	0.62120	ATG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	55	0	0	0	1	0	4	55					A	179611367	T	A	179611367	1	1	118	0	1	0	0	0	0	0	0	0	16732	1464	51	5		5	TTN	2	179611367	Intron	SNP	T	TCGA-SR-A6MQ-01A-11D-A35I-08	131579265	179611367	63588006	3	2150										
TRPM8	79054	broad.mit.edu	37	chr2	234891753	234891753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgtggatggtggcctttggCgtggccaggcaagggatcct	18	8	0	0	rs144605883		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:234891753C>T	ENST00000324695.4	+	20	2686	c.2646C>T	c.(2644-2646)ggC>ggT	p.G882G	TRPM8_ENST00000433712.2_Silent_p.G460G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	882					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGCCTTTGGCGTGGCCAGGC	0.592																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2644-2646)ggC>ggT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)	C		1,4405	2.1+/-5.4	0,1,2202	229	197	208		2646	-11.6	0	2	dbSNP_134	208	0,8600		0,0,4300	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		882/1105	234891753	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234891753C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2646C>T	2.37:g.234891753C>T						TRPM8_ENST00000433712.2_Silent_p.G460G	p.G882G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	20	2686	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	882					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2646C>T	CCDS33407.1																																																																																				0.592	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		4	160	0	0	0	1	0	4	160					T	234891753	C	T	234891753	2	4	118	1	0	0	0	0	0	0	0	1	16589	755	27	1		1	TRPM8	2	234891753	Silent	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08	55280386	234891753	8307620	4	2151										
SLC39A8	64116	broad.mit.edu	37	chr4	103228643	103228643	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaaagagtcccaatagccaGccccacaaaaaaggtcaaaa	6	11	1	1			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr4:103228643G>C	ENST00000394833.2	-	3	978	c.502C>G	c.(502-504)Ctg>Gtg	p.L168V	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000424970.2_Missense_Mutation_p.L168V|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	168					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CCAATAGCCAGCCCCACAAAA	0.363																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(502-504)Ctg>Gtg		solute carrier family 39 (zinc transporter), member 8							121	137	132					4																	103228643		2203	4299	6502	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103228643G>C		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.502C>G	4.37:g.103228643G>C	ENSP00000378310:p.Leu168Val					SLC39A8_ENST00000394833.2_Missense_Mutation_p.L168V|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V	p.L168V	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	4	817	-		Hepatocellular(203;0.217)	168					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.502C>G	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718928	0.68844	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.53423	0.62;0.62;0.62	5.54	3.8	0.43715	.	0.000000	0.64402	D	0.000007	T	0.65302	0.2678	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.989;0.992;1.0	T	0.68269	-0.5453	10	0.87932	D	0	-27.8292	9.8834	0.41247	0.23:0.0:0.77:0.0	.	168;168;101	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	V	168	ENSP00000394548:L168V;ENSP00000349174:L168V;ENSP00000378310:L168V	ENSP00000349174:L168V	L	-	1	2	SLC39A8	103447666	0.986000	0.35501	0.989000	0.46669	0.993000	0.82548	1.935000	0.40173	1.347000	0.45714	-0.140000	0.14226	CTG		0.363	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		5	132	0	0	0	1	0	5	132					C	103228643	G	C	103228643	3	2	118	1	0	0	0	0	1	0	0	0	14624	962	34	5	981	5	SLC39A8	4	103228643	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		103228643	87925633	5	2152										
PKHD1	5314	broad.mit.edu	37	chr6	51944754	51944754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgcttaccagctgtccccCgaagtatgcttccaggaagt	9	13	0	0	rs149841071	byFrequency	TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr6:51944754C>T	ENST00000371117.3	-	5	609	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	112					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTGTCCCCCGAAGTATGCT	0.463																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM051117	PKHD1	M	rs149841071	c.(334-336)Ggg>Agg		polycystic kidney and hepatic disease 1 (autosomal recessive)		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	201	174	184		334,334	2.6	0.2	6	dbSNP_134	184	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	125,125	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign,benign	112/4075,112/3397	51944754	6,13000	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944754C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.334G>A	6.37:g.51944754C>T	ENSP00000360158:p.Gly112Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R	p.G112R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	609	-	Lung NSC(77;0.0605)		112					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.334G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	8.509	0.866085	0.17250	2.27E-4	5.81E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.04;-2.25	5.31	2.56	0.30785	.	0.801692	0.11345	N	0.573607	T	0.69142	0.3078	M	0.66939	2.045	0.09310	N	0.999992	P;P	0.52692	0.83;0.955	B;B	0.37198	0.243;0.243	T	0.59440	-0.7454	10	0.36615	T	0.2	.	4.6693	0.12682	0.0:0.5699:0.1612:0.2689	.	112;112	P08F94-2;P08F94	.;PKHD1_HUMAN	R	112	ENSP00000360158:G112R;ENSP00000341097:G112R	ENSP00000341097:G112R	G	-	1	0	PKHD1	52052713	0.027000	0.19231	0.168000	0.22838	0.061000	0.15899	0.817000	0.27281	0.322000	0.23283	-0.136000	0.14681	GGG		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	117	0	0	0	1	0	4	117					T	51944754	C	T	51944754	3	4	118	1	0	0	0	0	1	0	0	0	11971	652	23	2	12181	2	PKHD1	6	51944754	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		51944754	119170313	6	2153										
COL12A1	1303	broad.mit.edu	37	chr6	75841698	75841698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccacaggagaatacacaacGcgatattgcagcacaggtcc	9	12	0	1	rs376241836		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr6:75841698G>A	ENST00000322507.8	-	35	6204	c.5895C>T	c.(5893-5895)cgC>cgT	p.R1965R	COL12A1_ENST00000416123.2_Silent_p.R1965R|COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000483888.2_Silent_p.R1965R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1965	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATACACAACGCGATATTGCA	0.463																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5893-5895)cgC>cgT		collagen, type XII, alpha 1		G	,	0,4048		0,0,2024	134	131	132		5895,2403	-8.1	0	6		132	1,8367		0,1,4183	no	coding-synonymous,coding-synonymous	COL12A1	NM_004370.5,NM_080645.2	,	0,1,6207	AA,AG,GG		0.012,0.0,0.0081	,	1965/3064,801/1900	75841698	1,12415	2024	4184	6208	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75841698G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5895C>T	6.37:g.75841698G>A						COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000483888.2_Silent_p.R1965R|COL12A1_ENST00000416123.2_Silent_p.R1965R	p.R1965R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			35	6204	-			1965			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5895C>T	CCDS43482.1																																																																																				0.463	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		23	25	0	0	0	1	0	23	25					A	75841698	G	A	75841698	2	1	118	1	0	0	0	0	0	0	0	1	3669	1074	38	1		1	COL12A1	6	75841698	Silent	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08	23896944	75841698	95273369	7	2154										
TOP1MT	116447	broad.mit.edu	37	chr8	144407615	144407615	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaacaagccaggcggctcaAtcttgaagttgcctattttt	10	9	2	1	rs372542090		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr8:144407615A>G	ENST00000329245.4	-	5	606	c.572T>C	c.(571-573)aTt>aCt	p.I191T	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I93T	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	191					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGGCGGCTCAATCTTGAAGTT	0.473																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(277-279)aTt>aCt		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)	A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	110	108	109		572	1.6	0.3	8		109	0,8600		0,0,4300	no	missense	TOP1MT	NM_052963.1	89	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	191/602	144407615	1,13005	2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144407615A>G	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.572T>C	8.37:g.144407615A>G	ENSP00000328835:p.Ile191Thr					TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I191T	p.I93T			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		6	683	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		191					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.278T>C	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	A	9.478	1.097430	0.20552	2.27E-4	0.0	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	3.48	1.6	0.23607	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.139465	0.32106	N	0.006564	T	0.28234	0.0697	N	0.11870	0.19	0.35480	D	0.79806	B	0.14805	0.011	B	0.31191	0.125	T	0.11991	-1.0565	10	0.41790	T	0.15	-5.1276	6.3269	0.21248	0.3278:0.0:0.6722:0.0	.	191	Q969P6	TOP1M_HUMAN	T	191;93;93;93;93;93	ENSP00000328835:I191T;ENSP00000428369:I93T;ENSP00000429169:I93T;ENSP00000429181:I93T;ENSP00000427998:I93T;ENSP00000429177:I93T	ENSP00000328835:I191T	I	-	2	0	TOP1MT	144478990	0.966000	0.33281	0.286000	0.24833	0.645000	0.38454	1.901000	0.39838	0.023000	0.15187	-0.180000	0.13094	ATT		0.473	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		3	50	0	0	0	1	0	3	50					G	144407615	A	G	144407615	3	3	118	1	0	0	0	0	1	0	0	0	16361	101	4	4	1273	4	TOP1MT	8	144407615	Missense_Mutation	SNP	A	TCGA-SR-A6MQ-01A-11D-A35I-08		144407615	1956407	8	2155										
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	10	9	1	2			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147	146	146					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	120	0	0	0	1	0	4	120					A	77354692	G	A	77354692	3	1	118	1	0	0	0	0	1	0	0	0	16587	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		77354692	63858739	9	2156										
C9orf21	195827	broad.mit.edu	37	chr9	99417014	99417014	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaactcctggggattttggcCagatcctctacgtattcctt	8	11	1	1			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:99417014C>G	ENST00000375234.3	-	2	233	c.234G>C	c.(232-234)ctG>ctC	p.L78L	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	78																	GGATTTTGGCCAGATCCTCTA	0.582																																						ENST00000375234.3																			0											c.(232-234)ctG>ctC		AhpC/TSA antioxidant enzyme domain containing 1							61	59	60					9																	99417014		2196	4288	6484	SO:0001819	synonymous_variant	195827						antioxidant activity|oxidoreductase activity	g.chr9:99417014C>G	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 21"	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.234G>C	9.37:g.99417014C>G						AAED1_ENST00000464512.1_5'UTR	p.L78L	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN			2	233	-			78					B2RMW4|Q5JU02	Silent	SNP	ENST00000375234.3	37	c.234G>C	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.726|6.726	0.502743|0.502743	0.12822|0.12822	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000446045|ENST00000411939	.|.	.|.	.|.	4.79|4.79	3.9|3.9	0.45041|0.45041	.|.	.|.	.|.	.|.	.|.	T|T	0.60483|0.60483	0.2272|0.2272	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57820|0.57820	-0.7745|-0.7745	4|4	.|.	.|.	.|.	-12.5419|-12.5419	10.3997|10.3997	0.44222|0.44222	0.0:0.9072:0.0:0.0928|0.0:0.9072:0.0:0.0928	.|.	.|.	.|.	.|.	R|S	32|6	.|.	.|.	G|W	-|-	1|2	0|0	C9orf21|C9orf21	98456835|98456835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.446000|0.446000	0.32137|0.32137	1.023000|1.023000	0.30065|0.30065	1.230000|1.230000	0.43646|0.43646	0.484000|0.484000	0.47621|0.47621	GGC|TGG		0.582	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		2	2	0	0	0	1	0	2	2					G	99417014	C	G	99417014	2	3	118	1	0	0	0	0	0	0	0	1	2473	581	21	5		5	C9orf21	9	99417014	Silent	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08	22062322	99417014	41796417	10	2157										
TDRD7	23424	broad.mit.edu	37	chr9	100258051	100258051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagtcattgaaaatgctaaCccttgggaccggaaagtagt	10	8	1	1	rs200913253		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:100258051C>T	ENST00000355295.4	+	17	3478	c.3183C>T	c.(3181-3183)aaC>aaT	p.N1061N	TDRD7_ENST00000540902.1_Silent_p.N381N|TDRD7_ENST00000422139.2_Silent_p.N987N	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1061	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAATGCTAACCCTTGGGACC	0.463																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3181-3183)aaC>aaT		tudor domain containing 7							171	164	166					9																	100258051		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100258051C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.3183C>T	9.37:g.100258051C>T						TDRD7_ENST00000422139.2_Silent_p.N987N|TDRD7_ENST00000540902.1_Silent_p.N381N	p.N1061N	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			17	3478	+		Acute lymphoblastic leukemia(62;0.158)	1061			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.3183C>T	CCDS6725.1																																																																																				0.463	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		7	65	0	0	0	1	0	7	65					T	100258051	C	T	100258051	2	4	118	1	0	0	0	0	0	0	0	1	15732	506	18	3		3	TDRD7	9	100258051	Silent	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08	841037	100258051	40955380	11	2158										
HRAS	3265	broad.mit.edu	37	chr11	534286	534286	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcgcactcttgcccacacCgccggcgcccaccaccacca	7	23	1	0	rs104894228		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Cgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85	80	82					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	224	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		11	24	0	0	0	1	0	11	24					G	534286	C	G	534286	3	3	118	1	0	0	0	0	1	0	0	0	7348	652	23	5	615	5	HRAS	11	534286	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		534286	134472230	12	2159										
PATL1	219988	broad.mit.edu	37	chr11	59418227	59418227	+	Splice_Site	DEL	T	T	-													0	0	1	0	0	0	1	1	0	gcaacaaattctaaacttacTttctcaattataacaagggt							TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr11:59418227delT	ENST00000300146.9	-	13	1668	c.1584delA	c.(1582-1584)aaa>aa	p.K528fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	528	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTAAACTTACTTTCTCAATTA	0.313																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.e13+1		protein associated with topoisomerase II homolog 1 (yeast)							100	88	91					11																	59418227		1793	4043	5836	SO:0001630	splice_region_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59418227delT	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1584+1A>-	11.37:g.59418227delT							p.K528_splice	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			13	1668	-			528			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Splice_Site	DEL	ENST00000300146.9	37	c.1584_splice	CCDS44613.1																																																																																				0.313	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716	Frame_Shift_Del	2	4						2	4	---	---	---	---	-	59418227	T	-	59418227	8	5	118	1	0	1	0	1	0	0	1	0	11475	1623	56	0	756	0	PATL1	11	59418227	Splice_Site	DEL	T	TCGA-SR-A6MQ-01A-11D-A35I-08	58883941	59418227	75588289	13	2160										
APAF1	317	broad.mit.edu	37	chr12	99117515	99117515	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacgatgctaccaagttttcAtctacctctgctgacaagac	6	13	3	2			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr12:99117515A>G	ENST00000551964.1	+	24	4039	c.3303A>G	c.(3301-3303)tcA>tcG	p.S1101S	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000547045.1_Silent_p.S1058S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Silent_p.S1090S|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000357310.1_Silent_p.S1058S|APAF1_ENST00000359972.2_Silent_p.S1047S	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CCAAGTTTTCATCTACCTCTG	0.353																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3172-3174)tcA>tcG		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107	112	110					12																	99117515		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99117515A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3303A>G	12.37:g.99117515A>G						APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Silent_p.S1101S|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000547045.1_Silent_p.S1058S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.S1047S|APAF1_ENST00000550527.1_Silent_p.S1090S	p.S1058S	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			23	3751	+			1101					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.3174A>G	CCDS9069.1																																																																																				0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		7	110	0	0	0	1	0	7	110					G	99117515	A	G	99117515	2	3	118	1	0	0	0	0	0	0	0	1	755	204	8	4		4	APAF1	12	99117515	Silent	SNP	A	TCGA-SR-A6MQ-01A-11D-A35I-08		99117515	34734380	14	2161										
SERPINA10	51156	broad.mit.edu	37	chr14	94756360	94756360	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attgcgaaaattcataggcaCgcactctgtatcaaaatacc	6	10	3	0	rs533103231		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr14:94756360C>A	ENST00000393096.1	-	2	1036	c.571G>T	c.(571-573)Gtg>Ttg	p.V191L	SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.V231L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	191					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(691-693)Gtg>Ttg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							91	93	92					14																	94756360		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756360C>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.571G>T	14.37:g.94756360C>A	ENSP00000376809:p.Val191Leu					SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L	p.V231L			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	1109	-		all_cancers(154;0.105)	191					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.691G>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.174926	0.01646	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.8	1.89	0.25635	Serpin domain (3);	0.378221	0.21157	N	0.079223	T	0.66107	0.2756	N	0.21240	0.645	0.09310	N	1	B	0.18461	0.028	B	0.22601	0.04	T	0.49570	-0.8926	10	0.27785	T	0.31	.	2.587	0.04833	0.2354:0.4836:0.1284:0.1527	.	191	Q9UK55	ZPI_HUMAN	L	231;191;191;191	ENSP00000450896:V231L;ENSP00000376809:V191L;ENSP00000261994:V191L;ENSP00000450971:V191L	ENSP00000261994:V191L	V	-	1	0	SERPINA10	93826113	0.000000	0.05858	0.003000	0.11579	0.131000	0.20780	-0.018000	0.12568	0.431000	0.26258	0.313000	0.20887	GTG		0.418	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		4	80	1	0	0.150653	1	0.163208	4	80					A	94756360	C	A	94756360	3	1	118	1	0	0	0	0	1	0	0	0	14087	536	19	5	779	5	SERPINA10	14	94756360	Missense_Mutation	SNP	C	TCGA-SR-A6MQ-01A-11D-A35I-08		94756360	12593180	15	2162										
DENND4A	10260	broad.mit.edu	37	chr15	66021931	66021931	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	ccgtagggaatggataagaaTtttatgttctgttactgcaa							TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr15:66021931delT	ENST00000431932.2	-	10	1460	c.1252delA	c.(1252-1254)attfs	p.I418fs	DENND4A_ENST00000443035.3_Frame_Shift_Del_p.I418fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	418	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGATAAGAATTTTATGTTCT	0.403																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1252-1254)ttfs		DENN/MADD domain containing 4A							62	58	59					15																	66021931		1880	4102	5982	SO:0001589	frameshift_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66021931delT	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1252delA	15.37:g.66021931delT	ENSP00000396830:p.Ile418fs					DENND4A_ENST00000431932.2_Frame_Shift_Del_p.I418fs	p.I418fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			10	1467	-			418			DENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Del	DEL	ENST00000431932.2	37	c.1252delA	CCDS45285.1																																																																																				0.403	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		2	4						2	4	---	---	---	---	-	66021931	T	-	66021931	7	5	118	1	0	1	0	1	0	0	0	0	4433	1493	52	0	4564	0	DENND4A	15	66021931	Frame_Shift_Del	DEL	T	TCGA-SR-A6MQ-01A-11D-A35I-08		66021931	36509461	16	2163										
ABCA8	10351	broad.mit.edu	37	chr17	66873753	66873753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcaggttgggccacagcGcgttctcctgagggcagtac	14	12	2	1			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr17:66873753G>A	ENST00000269080.2	-	31	4123	c.3986C>T	c.(3985-3987)gCg>gTg	p.A1329V	ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1329V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGGCCACAGCGCGTTCTCCTG	0.597																																						ENST00000269080.2																			1	Substitution - Missense(1)	p.A1329V(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3985-3987)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 8							140	119	126					17																	66873753		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873753G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3986C>T	17.37:g.66873753G>A	ENSP00000269080:p.Ala1329Val					ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369V	p.A1329V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4123	-	Breast(10;4.56e-13)		1329			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3986C>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	9.177	1.022563	0.19433	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.93763	-3.28;-3.28	4.34	-0.109	0.13584	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.455820	0.18056	N	0.153094	D	0.85004	0.5598	N	0.17723	0.515	0.25438	N	0.988124	B;B;B	0.14805	0.011;0.004;0.011	B;B;B	0.14023	0.01;0.004;0.006	T	0.73707	-0.3898	10	0.41790	T	0.15	.	8.385	0.32494	0.3401:0.0:0.6599:0.0	.	1369;1369;1329	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	V	1329;1369	ENSP00000269080:A1329V;ENSP00000402814:A1369V	ENSP00000269080:A1329V	A	-	2	0	ABCA8	64385348	0.064000	0.20934	0.007000	0.13788	0.521000	0.34408	1.858000	0.39408	-0.051000	0.13334	0.637000	0.83480	GCG		0.597	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		4	77	0	0	0	1	0	4	77					A	66873753	G	A	66873753	3	1	118	1	0	0	0	0	1	0	0	0	38	1087	38	1	791	1	ABCA8	17	66873753	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		66873753	14321457	17	2164										
BSG	682	broad.mit.edu	37	chr19	577826	577826	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	aggtgggtggggggcagtgtGgagctgcactgcgaggccgt							TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr19:577826delG	ENST00000333511.3	+	2	190	c.120delG	c.(118-120)gtgfs	p.V40fs	BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	40					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCAGTGTGGAGCTGCACT	0.692																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(118-120)gtfs		basigin							14	13	13					19																	577826		2162	4229	6391	SO:0001589	frameshift_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:577826delG	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.120delG	19.37:g.577826delG	ENSP00000333769:p.Val40fs					BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron	p.V40fs	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	190	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	40					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Frame_Shift_Del	DEL	ENST00000333511.3	37	c.120delG	CCDS12033.1																																																																																				0.692	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		2	4						2	4	---	---	---	---	-	577826	G	-	577826	7	5	118	1	0	1	0	1	0	0	0	0	1529	1335	47	0	162	0	BSG	19	577826	Frame_Shift_Del	DEL	G	TCGA-SR-A6MQ-01A-11D-A35I-08		577826	58551157	18	2165										
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	60	0	0	0	1	0	3	60					A	51076024	G	A	51076024	2	1	118	1	0	0	0	0	0	0	0	1	10726	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08		51076024	104194536	19	2166										
MSN	4478	broad.mit.edu	37	chrX	64951750	64951750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctcaagatctggagatgtAtggtgtgaactacttcagca	11	7	3	3			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:64951750A>G	ENST00000360270.5	+	6	774	c.602A>G	c.(601-603)tAt>tGt	p.Y201C		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	201	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTGGAGATGTATGGTGTGAAC	0.493			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(601-603)tAt>tGt		moesin							145	124	131					X																	64951750		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64951750A>G	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.602A>G	X.37:g.64951750A>G	ENSP00000353408:p.Tyr201Cys						p.Y201C	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			6	774	+			201			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.602A>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515952	0.85495	.	.	ENSG00000147065	ENST00000360270	D	0.85013	-1.93	5.92	5.92	0.95590	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97358	0.9968	10	0.87932	D	0	.	13.9916	0.64369	1.0:0.0:0.0:0.0	.	201	P26038	MOES_HUMAN	C	201	ENSP00000353408:Y201C	ENSP00000353408:Y201C	Y	+	2	0	MSN	64868475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.237000	0.95368	1.990000	0.58119	0.486000	0.48141	TAT		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		17	80	0	0	0	1	0	17	80					G	64951750	A	G	64951750	3	3	118	1	0	0	0	0	1	0	0	0	9885	449	16	4	624	4	MSN	23	64951750	Missense_Mutation	SNP	A	TCGA-SR-A6MQ-01A-11D-A35I-08	13875726	64951750	90318810	20	2167										
NKAP	79576	broad.mit.edu	37	chrX	119059273	119059273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctttcgtctctcttcttgGttaaaggatgcaagggctct	9	10	5	0			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:119059273G>T	ENST00000371410.3	-	9	1324	c.1158C>A	c.(1156-1158)aaC>aaA	p.N386K	AC002477.1_ENST00000581061.1_RNA|RP3-327A19.5_ENST00000455986.1_RNA|NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	386	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCTCTTCTTGGTTAAAGGATG	0.438																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(1156-1158)aaC>aaA		NFKB activating protein							157	144	148					X																	119059273		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119059273G>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"NF kappaB activating protein"	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1158C>A	X.37:g.119059273G>T	ENSP00000360464:p.Asn386Lys					NKAP_ENST00000477789.1_5'UTR	p.N386K	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			9	1324	-			386			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.1158C>A	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519570	0.85495	.	.	ENSG00000101882	ENST00000371410	T	0.16457	2.34	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.05750	-1.0866	10	0.66056	D	0.02	-24.778	13.2846	0.60235	0.078:0.0:0.922:0.0	.	386	Q8N5F7	NKAP_HUMAN	K	386	ENSP00000360464:N386K	ENSP00000360464:N386K	N	-	3	2	NKAP	118943301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.905000	0.87416	1.177000	0.42855	0.600000	0.82982	AAC		0.438	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		4	79	1	0	0.00024832	1	0.000307444	4	79					T	119059273	G	T	119059273	3	4	118	1	0	0	0	0	1	0	0	0	10439	1252	44	5	93	5	NKAP	23	119059273	Missense_Mutation	SNP	G	TCGA-SR-A6MQ-01A-11D-A35I-08	54107523	119059273	36211287	21	2168										
TTN	7273	broad.mit.edu	37	chr2	179594164	179594164	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtgtattttttgctgcttCgaatttccctgttattcttc	6	8	1	0			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr2:179594164C>A	ENST00000591111.1	-	62	17992	c.17768G>T	c.(17767-17769)cGa>cTa	p.R5923L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R6240L|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12718	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTGCTTCGAATTTCCCT	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18718-18720)cGa>cTa		titin							136	129	131					2																	179594164		1931	4129	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594164C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17768G>T	2.37:g.179594164C>A	ENSP00000465570:p.Arg5923Leu					TTN_ENST00000591111.1_Missense_Mutation_p.R5923L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L	p.R6240L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	18943	-			5923			Ig-like 43.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18719G>T		.	.	.	.	.	.	.	.	.	.	C	12.79	2.042508	0.35989	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62208	0.2409	L	0.46741	1.465	0.80722	D	1	P	0.44521	0.837	B	0.39660	0.306	T	0.67681	-0.5608	9	0.87932	D	0	.	15.9467	0.79799	0.143:0.857:0.0:0.0	.	5923	Q8WZ42	TITIN_HUMAN	L	4996	ENSP00000343764:R4996L	ENSP00000343764:R4996L	R	-	2	0	TTN	179302409	1.000000	0.71417	0.984000	0.44739	0.826000	0.46750	3.321000	0.51999	2.795000	0.96236	0.655000	0.94253	CGA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	61	1	0	1.50538e-07	1	1.58065e-07	27	61					A	179594164	C	A	179594164	3	1	119	1	0	0	0	0	1	0	0	0	16732	884	31	5	86006	5	TTN	2	179594164	Missense_Mutation	SNP	C	TCGA-SR-A6MR-01A-11D-A35I-08		179594164	63605209	1	2169										
ST6GAL1	6480	broad.mit.edu	37	chr3	186793532	186793532	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctcaaccagggcacagatGaggacatctacctgcttgga	10	11	2	2			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr3:186793532G>T	ENST00000169298.3	+	8	1836	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*|ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	388					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCACAGATGAGGACATCTA	0.507																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1162-1164)Gag>Tag		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							89	88	88					3																	186793532		2203	4300	6503	SO:0001587	stop_gained	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793532G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1162G>T	3.37:g.186793532G>T	ENSP00000169298:p.Glu388*					ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*|ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157*	p.E388*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1836	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		388					A8KA14|B2R513|D3DNV3	Nonsense_Mutation	SNP	ENST00000169298.3	37	c.1162G>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	42	9.386880	0.99156	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	.	.	.	5.74	5.74	0.90152	.	0.196194	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-34.2584	11.1285	0.48333	0.0836:0.0:0.9164:0.0	.	.	.	.	X	388;157;388	.	ENSP00000169298:E388X	E	+	1	0	ST6GAL1	188276226	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	3.310000	0.51911	2.884000	0.98904	0.655000	0.94253	GAG		0.507	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		7	46	1	0	0.0293803	1	0.0293803	7	46					T	186793532	G	T	186793532	4	4	119	1	0	0	0	0	0	1	0	0	15220	1291	45	5	1180	5	ST6GAL1	3	186793532	Nonsense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		186793532	11228898	2	2170										
TNKS	8658	broad.mit.edu	37	chr8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gccctttagcagagttggccGtaggaggagcctccaatgca	13	11	0	1	rs370349163		TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0	0	5008	,	,		15309	0.001		0	False		,,,				2504	0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G	ILE/VAL	0,4406		0,0,2203	78	82	81		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile					TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	p.V1004I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3036	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	137	0	0	0	1	0	4	137					A	9609296	G	A	9609296	3	1	119	1	0	0	0	0	1	0	0	0	16316	1145	40	1	3084	1	TNKS	8	9609296	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		9609296	136754726	3	2171										
FAM164A	51101	broad.mit.edu	37	chr8	79629684	79629684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctaaataccctgtagaatggGccaaattttgctgtgaatgt	9	7	0	2			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr8:79629684G>A	ENST00000263849.4	+	9	1036	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	312							metal ion binding (GO:0046872)										TGTAGAATGGGCCAAATTTTG	0.358																																						ENST00000263849.4																			0											c.(934-936)Gcc>Acc		zinc finger, C2HC-type containing 1A							149	151	150					8																	79629684		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79629684G>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.934G>A	8.37:g.79629684G>A	ENSP00000263849:p.Ala312Thr						p.A312T	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			9	1036	+			312					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.934G>A	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.750688|4.750688	0.89753|0.89753	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.58652|.	0.32|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.047976|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75230|0.75230	-0.3391|-0.3391	9|5	.|.	.|.	.|.	-18.263|-18.263	18.9518|18.9518	0.92643|0.92643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	312|.	Q96GY0|.	F164A_HUMAN|.	T|D	312|183	ENSP00000263849:A312T|.	.|.	A|G	+|+	1|2	0|0	FAM164A|FAM164A	79792239|79792239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.373000|7.373000	0.79623|0.79623	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GCC|GGC		0.358	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		4	134	0	0	0	1	0	4	134					A	79629684	G	A	79629684	3	1	119	1	0	0	0	0	1	0	0	0	5478	1203	42	3	968	3	FAM164A	8	79629684	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08	70020388	79629684	66734338	4	2172										
POLR3A	11128	broad.mit.edu	37	chr10	79769406	79769406	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgaggatgacactgaagaTctgctttcccgtccacaggg	11	12	1	4			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr10:79769406T>C	ENST00000372371.3	-	14	1935	c.1798A>G	c.(1798-1800)Atc>Gtc	p.I600V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	600					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACACTGAAGATCTGCTTTCCC	0.582																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1798-1800)Atc>Gtc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							170	131	144					10																	79769406		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79769406T>C	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1798A>G	10.37:g.79769406T>C	ENSP00000361446:p.Ile600Val						p.I600V	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		14	1935	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		600					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1798A>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	6.078	0.382712	0.11524	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68479	-0.33	5.72	4.6	0.57074	RNA polymerase Rpb1, domain 3 (1);	0.106949	0.64402	D	0.000004	T	0.43010	0.1228	N	0.17474	0.49	0.49389	D	0.999789	B	0.11235	0.004	B	0.18561	0.022	T	0.36529	-0.9744	9	.	.	.	-20.987	3.3043	0.06994	0.0:0.3343:0.0:0.6656	.	600	O14802	RPC1_HUMAN	V	600	ENSP00000361446:I600V	.	I	-	1	0	POLR3A	79439412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.181000	0.42547	2.184000	0.69523	0.533000	0.62120	ATC		0.582	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		27	52	0	0	0	1	0	27	52					C	79769406	T	C	79769406	3	2	119	1	0	0	0	0	1	0	0	0	12228	1435	50	4	2446	4	POLR3A	10	79769406	Missense_Mutation	SNP	T	TCGA-SR-A6MR-01A-11D-A35I-08		79769406	55765341	5	2173										
SLIT1	6585	broad.mit.edu	37	chr10	98778790	98778790	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctcaagggggtcgttgtGgcaggtgccctggttctggc	16	11	2	0			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr10:98778790G>C	ENST00000266058.4	-	27	3066	c.2821C>G	c.(2821-2823)Cac>Gac	p.H941D	SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	941	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGTCGTTGTGGCAGGTGCCC	0.637																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(2821-2823)Cac>Gac		slit homolog 1 (Drosophila)							48	44	46					10																	98778790		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98778790G>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2821C>G	10.37:g.98778790G>C	ENSP00000266058:p.His941Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D	p.H941D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	27	3066	-		Colorectal(252;0.162)	941			EGF-like 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.2821C>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345444	0.24426	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.92299	-3.01;-3.01	5.54	4.64	0.57946	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.290403	0.38959	N	0.001506	D	0.84920	0.5579	N	0.20483	0.58	0.80722	D	1	B	0.24317	0.101	B	0.25506	0.061	T	0.79470	-0.1790	10	0.16896	T	0.51	.	13.7739	0.63041	0.0747:0.0:0.9253:0.0	.	941	O75093	SLIT1_HUMAN	D	941	ENSP00000266058:H941D;ENSP00000360109:H941D	ENSP00000266058:H941D	H	-	1	0	SLIT1	98768780	1.000000	0.71417	0.874000	0.34290	0.914000	0.54420	5.321000	0.65846	1.341000	0.45600	0.462000	0.41574	CAC		0.637	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		4	30	0	0	0	1	0	4	30					C	98778790	G	C	98778790	3	2	119	1	0	0	0	0	1	0	0	0	14739	1348	47	5	1827	5	SLIT1	10	98778790	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08	19009384	98778790	36755957	6	2174										
RPL27A	6157	broad.mit.edu	37	chr11	8705560	8705560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtattcctgcaggcaagcaCcggaagcaccccggcggccg	13	15	0	0			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr11:8705560C>A	ENST00000314138.6	+	3	478	c.75C>A	c.(73-75)caC>caA	p.H25Q	SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000530022.1_5'UTR|RPL27A_ENST00000526562.1_5'UTR|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000530913.1_5'Flank|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000524496.1_5'UTR	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	25					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGCAAGCACCGGAAGCACC	0.552																																						ENST00000314138.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(73-75)caC>caA		ribosomal protein L27a							81	82	82					11																	8705560		2201	4296	6497	SO:0001583	missense	6157				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr11:8705560C>A	U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"L ribosomal proteins"	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.75C>A	11.37:g.8705560C>A	ENSP00000346015:p.His25Gln					RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000530022.1_5'UTR|RPL27A_ENST00000526562.1_5'UTR|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q	p.H25Q	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN		Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	478	+			25					B2R4B3	Missense_Mutation	SNP	ENST00000314138.6	37	c.75C>A	CCDS7790.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978584|3.978584	0.74360|0.74360	.|.	.|.	ENSG00000166441|ENSG00000166441	ENST00000314138;ENST00000531978;ENST00000532359|ENST00000525981	.|.	.|.	.|.	5.6|5.6	4.69|4.69	0.59074|0.59074	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.87124|0.87124	0.6099|0.6099	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	P|.	0.46512|.	0.879|.	P|.	0.54889|.	0.763|.	D|D	0.91213|0.91213	0.5000|0.5000	9|5	0.87932|.	D|.	0|.	-1.1861|-1.1861	14.6508|14.6508	0.68794|0.68794	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	25|.	P46776|.	RL27A_HUMAN|.	Q|N	25|20	.|.	ENSP00000346015:H25Q|.	H|T	+|+	3|2	2|0	RPL27A|RPL27A	8662136|8662136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	5.553000|5.553000	0.67287|0.67287	1.498000|1.498000	0.48600|0.48600	-0.157000|-0.157000	0.13467|0.13467	CAC|ACC		0.552	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386506.1	NM_000990		15	98	1	0	9.16793e-09	1	1.0133e-08	15	98					A	8705560	C	A	8705560	3	1	119	1	0	0	0	0	1	0	0	0	13576	506	18	5	85	5	RPL27A	11	8705560	Missense_Mutation	SNP	C	TCGA-SR-A6MR-01A-11D-A35I-08		8705560	126300956	7	2175										
H2AFX	3014	broad.mit.edu	37	chr11	118965944	118965944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cggtgaggtactccagcactGccgccaggtacactggcgcg	14	14	0	1			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr11:118965944G>A	ENST00000530167.1	-	1	233	c.161C>T	c.(160-162)gCa>gTa	p.A54V		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	54					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTCCAGCACTGCCGCCAGGTA	0.701								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(160-162)gCa>gTa	Chromatin Structure	H2A histone family, member X							35	37	36					11																	118965944		2200	4292	6492	SO:0001583	missense	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965944G>A	X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.161C>T	11.37:g.118965944G>A	ENSP00000434024:p.Ala54Val		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.A54V	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	233	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	54					Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	c.161C>T	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.137873	0.97315	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	T;T	0.71103	-0.54;-0.54	5.92	5.92	0.95590	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.64402	D	0.000010	D	0.89856	0.6836	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	P	0.56514	0.8	D	0.93592	0.6922	10	0.72032	D	0.01	.	19.2987	0.94134	0.0:0.0:1.0:0.0	.	54	P16104	H2AX_HUMAN	V	54	ENSP00000434024:A54V;ENSP00000364310:A54V	ENSP00000364310:A54V	A	-	2	0	H2AFX	118471154	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.576000	0.98192	2.809000	0.96659	0.655000	0.94253	GCA		0.701	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		15	74	0	0	0	1	0	15	74					A	118965944	G	A	118965944	3	1	119	1	0	0	0	0	1	0	0	0	6928	1319	46	3	274	3	H2AFX	11	118965944	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08	110260384	118965944	16040572	8	2176										
SPG11	80208	broad.mit.edu	37	chr15	44955823	44955823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccggcggaagcagcactcGcgaccccttcctctgcagcc	11	19	1	0	rs200939573		TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr15:44955823G>C	ENST00000261866.7	-	1	39	c.23C>G	c.(22-24)gCg>gGg	p.A8G	SPG11_ENST00000427534.2_Missense_Mutation_p.A8G|SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	8					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAGCACTCGCGACCCCTTC	0.687													G|||	1	0.000199681	0	0	5008	,	,		15637	0.001		0	False		,,,				2504	0					ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(22-24)gCg>gGg		spastic paraplegia 11 (autosomal recessive)							7	9	8					15																	44955823		2101	4178	6279	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44955823G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.23C>G	15.37:g.44955823G>C	ENSP00000261866:p.Ala8Gly					SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G	p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	1	39	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	8					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.23C>G	CCDS10112.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	3.883	-0.025632	0.07589	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.75367	-0.93;-0.66;-0.68	5.53	1.56	0.23342	.	0.934142	0.08960	N	0.868891	T	0.37972	0.1023	N	0.00583	-1.355	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24476	-1.0159	10	0.02654	T	1	.	10.4812	0.44695	0.1412:0.4428:0.416:0.0	.	8;8;8;8	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	G	8	ENSP00000261866:A8G;ENSP00000445278:A8G;ENSP00000396110:A8G	ENSP00000261866:A8G	A	-	2	0	SPG11	42743115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.012000	0.13287	0.046000	0.15833	-2.042000	0.00416	GCG		0.687	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	12	0	0	0	1	0	6	12					C	44955823	G	C	44955823	3	2	119	1	0	0	0	0	1	0	0	0	15040	1087	38	5	7468	5	SPG11	15	44955823	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		44955823	57575569	9	2177										
GPS1	2873	broad.mit.edu	37	chr17	80011174	80011174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ccgtggagcccatgcagatcGacgtggacccccaggaagac	13	14	0	2			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr17:80011174G>A	ENST00000306823.6	+	2	81	c.58G>A	c.(58-60)Gac>Aac	p.D20N	GPS1_ENST00000355130.2_Missense_Mutation_p.D60N|RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.D60N			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	20					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CATGCAGATCGACGTGGACCC	0.662																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(178-180)Gac>Aac		G protein pathway suppressor 1							75	68	70					17																	80011174		2200	4300	6500	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80011174G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.58G>A	17.37:g.80011174G>A	ENSP00000302873:p.Asp20Asn					GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|GPS1_ENST00000306823.6_Missense_Mutation_p.D20N|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N|GPS1_ENST00000355130.2_Missense_Mutation_p.D60N	p.D60N	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		2	527	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		20					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.178G>A	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203956	0.58234	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	3.82	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.49455	1.56	0.80722	D	1	D;D;P;P;D	0.76494	0.986;0.998;0.8;0.925;0.999	P;P;B;B;P	0.62382	0.629;0.799;0.17;0.415;0.901	T	0.69457	-0.5140	9	0.44086	T	0.13	-23.0599	16.2282	0.82315	0.0:0.0:1.0:0.0	.	12;60;20;20;60	B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.;.;.;CSN1_HUMAN;.	N	60;88;20;60	.	ENSP00000302873:D20N	D	+	1	0	GPS1	77604463	1.000000	0.71417	0.919000	0.36401	0.872000	0.50106	8.619000	0.90938	2.085000	0.62840	0.563000	0.77884	GAC		0.662	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		6	14	0	0	0	1	0	6	14					A	80011174	G	A	80011174	3	1	119	1	0	0	0	0	1	0	0	0	6732	1058	37	2	221	2	GPS1	17	80011174	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		80011174	1184036	10	2178										
DMWD	1762	broad.mit.edu	37	chr19	46290019	46290019	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcggggccgaggcgcagggGtggctgacgttgtacaggta	21	8	0	1			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr19:46290019G>C	ENST00000270223.6	-	3	780	c.735C>G	c.(733-735)caC>caG	p.H245Q	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.H245Q	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	245										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGCGCAGGGGTGGCTGACGT	0.627																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(733-735)caC>caG		dystrophia myotonica, WD repeat containing							42	40	41					19																	46290019		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46290019G>C	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.735C>G	19.37:g.46290019G>C	ENSP00000270223:p.His245Gln					DMWD_ENST00000377735.3_Missense_Mutation_p.H245Q	p.H245Q	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	780	-		Ovarian(192;0.0308)|all_neural(266;0.112)	245						Missense_Mutation	SNP	ENST00000270223.6	37	c.735C>G	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	3.485	-0.105138	0.06967	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.27256	1.68;1.68	4.21	3.17	0.36434	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.57536	1.79	0.34664	D	0.722965	P;P	0.42518	0.782;0.675	B;B	0.42882	0.401;0.226	T	0.21518	-1.0243	10	0.12430	T	0.62	-33.6381	6.6265	0.22833	0.2136:0.0:0.7864:0.0	.	245;245	G5E9A7;Q09019	.;DMWD_HUMAN	Q	245	ENSP00000366964:H245Q;ENSP00000270223:H245Q	ENSP00000270223:H245Q	H	-	3	2	DMWD	50981859	1.000000	0.71417	0.991000	0.47740	0.147000	0.21601	2.226000	0.42963	1.156000	0.42514	0.514000	0.50259	CAC		0.627	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		10	61	0	0	0	1	0	10	61					C	46290019	G	C	46290019	3	2	119	1	0	0	0	0	1	0	0	0	4593	1252	44	5	1301	5	DMWD	19	46290019	Missense_Mutation	SNP	G	TCGA-SR-A6MR-01A-11D-A35I-08		46290019	12838964	11	2179										
TSC22D2	9819	broad.mit.edu	37	chr3	150128088	150128088	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	cccagccagccccagggagcGgggcccgggggacagactct							TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr3:150128088delG	ENST00000361875.3	+	1	1967	c.951delG	c.(949-951)gcgfs	p.A317fs	TSC22D2_ENST00000361136.2_Frame_Shift_Del_p.A317fs	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	317					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCAGGGAGCGGGGCCCGGGG	0.756																																						ENST00000361875.2																			0				cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(949-951)gcfs		TSC22 domain family, member 2							4	5	4					3																	150128088		1713	3399	5112	SO:0001589	frameshift_variant	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150128088delG	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.951delG	3.37:g.150128088delG	ENSP00000354543:p.Ala317fs					TSC22D2_ENST00000361136.2_Frame_Shift_Del_p.A317fs	p.A317fs	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	1967	+			317					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Frame_Shift_Del	DEL	ENST00000361875.3	37	c.951delG	CCDS3149.1																																																																																				0.756	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		2	4						2	4	---	---	---	---	-	150128088	G	-	150128088	7	5	120	1	0	1	0	1	0	0	0	0	16605	1103	39	0	953	0	TSC22D2	3	150128088	Frame_Shift_Del	DEL	G	TCGA-SR-A6MS-01A-11D-A35I-08		150128088	47894342	1	2180										
CLCN3	1182	broad.mit.edu	37	chr4	170618774	170618774	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaatgccagtaaaattgtCgatgacattcctgatcgtcc	8	9	0	3			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr4:170618774C>G	ENST00000513761.1	+	9	2011	c.1452C>G	c.(1450-1452)gtC>gtG	p.V484V	CLCN3_ENST00000360642.3_Silent_p.V457V|CLCN3_ENST00000347613.4_Silent_p.V484V|CLCN3_ENST00000504131.2_Silent_p.V467V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	484					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTAAAATTGTCGATGACATTC	0.403																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1450-1452)gtC>gtG		chloride channel, voltage-sensitive 3							123	117	119					4																	170618774		2203	4300	6503	SO:0001819	synonymous_variant	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618774C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1452C>G	4.37:g.170618774C>G						CLCN3_ENST00000504131.2_Silent_p.V467V|CLCN3_ENST00000347613.4_Silent_p.V484V|CLCN3_ENST00000360642.3_Silent_p.V457V	p.V484V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	2011	+		Prostate(90;0.00601)|Renal(120;0.0183)	484					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.1452C>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	5.955	0.360214	0.11296	.	.	ENSG00000109572	ENST00000515420	.	.	.	5.51	-6.66	0.01789	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45454	-0.9260	4	.	.	.	-12.9829	2.943	0.05836	0.1304:0.2381:0.4308:0.2007	.	.	.	.	W	139	.	.	S	+	2	0	CLCN3	170855349	0.052000	0.20516	0.987000	0.45799	0.766000	0.43426	-0.818000	0.04467	-0.551000	0.06175	-1.490000	0.00973	TCG		0.403	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			7	103	0	0	0	1	0	7	103					G	170618774	C	G	170618774	2	3	120	1	0	0	0	0	0	0	0	1	3464	871	31	5		5	CLCN3	4	170618774	Silent	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08		170618774	20535502	2	2181										
PCDHB4	56131	broad.mit.edu	37	chr5	140502423	140502423	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtgtttcttatggcttattCcaagcatcagatgaaattaa	7	6	2	2			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr5:140502423C>A	ENST00000194152.1	+	1	843	c.843C>A	c.(841-843)ttC>ttA	p.F281L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGCTTATTCCAAGCATCAG	0.368																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(841-843)ttC>ttA									97	112	107					5																	140502423		2201	4300	6501	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502423C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.843C>A	5.37:g.140502423C>A	ENSP00000194152:p.Phe281Leu						p.F281L	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	843	+			281			Cadherin 3.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.843C>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215057	0.09810	.	.	ENSG00000081818	ENST00000194152	T	0.39592	1.07	4.41	-0.895	0.10560	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18882	0.0453	N	0.05230	-0.09	0.21290	N	0.999737	B	0.17038	0.02	B	0.28991	0.097	T	0.26538	-1.0100	9	0.34782	T	0.22	.	1.6978	0.02866	0.1342:0.3583:0.1322:0.3753	.	281	Q9Y5E5	PCDB4_HUMAN	L	281	ENSP00000194152:F281L	ENSP00000194152:F281L	F	+	3	2	PCDHB4	140482607	0.017000	0.18338	0.267000	0.24556	0.616000	0.37450	0.378000	0.20569	-0.016000	0.14127	0.650000	0.86243	TTC		0.368	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		4	122	1	0	0.0215528	1	0.0215528	4	122					A	140502423	C	A	140502423	3	1	120	1	0	0	0	0	1	0	0	0	11544	854	30	5	845	5	PCDHB4	5	140502423	Missense_Mutation	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08		140502423	40412837	3	2182										
POPDC3	64208	broad.mit.edu	37	chr6	105609351	105609351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaagttttcccctgcatgGcataacagtgttccttttcc	8	11	0	0			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:105609351G>A	ENST00000254765.3	-	2	712	c.434C>T	c.(433-435)gCc>gTc	p.A145V	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	145					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCCCTGCATGGCATAACAGTG	0.443																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(433-435)gCc>gTc		popeye domain containing 3							125	129	127					6																	105609351		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105609351G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.434C>T	6.37:g.105609351G>A	ENSP00000254765:p.Ala145Val					BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron	p.A145V	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			2	712	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	145					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.434C>T	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175650	0.94807	.	.	ENSG00000132429	ENST00000254765	T	0.50277	0.75	5.66	5.66	0.87406	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67814	-0.5573	10	0.49607	T	0.09	-9.4632	19.7218	0.96145	0.0:0.0:1.0:0.0	.	145	Q9HBV1	POPD3_HUMAN	V	145	ENSP00000254765:A145V	ENSP00000254765:A145V	A	-	2	0	POPDC3	105716044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.669000	0.90835	0.655000	0.94253	GCC		0.443	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		33	66	0	0	0	1	0	33	66					A	105609351	G	A	105609351	3	1	120	1	0	0	0	0	1	0	0	0	12256	1203	42	3	453	3	POPDC3	6	105609351	Missense_Mutation	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08		105609351	65505716	4	2183										
RFX6	222546	broad.mit.edu	37	chr6	117203568	117203568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccctcctaacaacaaggcgGcttggaacaagaggccattc	9	14	0	1			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr6:117203568G>A	ENST00000332958.2	+	4	559	c.543G>A	c.(541-543)cgG>cgA	p.R181R		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	181			R -> Q (in MTCHRS; abolishes DNA- binding). {ECO:0000269|PubMed:20148032}.		endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAACAAGGCGGCTTGGAACAA	0.393																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(541-543)cgG>cgA		regulatory factor X, 6							103	89	93					6																	117203568		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117203568G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.543G>A	6.37:g.117203568G>A							p.R181R	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			4	559	+			181		R -> Q (in MIRIS; abolishes DNA-binding).			Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.543G>A	CCDS5113.1																																																																																				0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		4	65	0	0	0	1	0	4	65					A	117203568	G	A	117203568	2	1	120	1	0	0	0	0	0	0	0	1	13267	1190	42	3		3	RFX6	6	117203568	Silent	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08	11594217	117203568	53911499	5	2184										
FOXP2	93986	broad.mit.edu	37	chr7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-													0	0	1	0	0	0	1	1	0	tggtttgggttttctgatacCagcagcagcagcagcagcag							TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000378237.3_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4						2	4	---	---	---	---	-	114271582	CAG	-	114271580	8	5	120	1	0	1	0	1	0	0	1	0	6027	609	21	0		0	FOXP2	7	114271580	Splice_Site	DEL	CAG	TCGA-SR-A6MS-01A-11D-A35I-08		114271580	44867083	6	2185										
C9orf3	84909	broad.mit.edu	37	chr9	97717559	97717559	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatgcaggtgcattatttaAaggtaagcacatgtcagttg	10	6	2	0			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr9:97717559A>G	ENST00000375315.2	+	7	1762	c.1762A>G	c.(1762-1764)Aag>Gag	p.K588E	C9orf3_ENST00000297979.5_Missense_Mutation_p.K489E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	588					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCATTATTTAAAGGTAAGCAC	0.423																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1762-1764)Aag>Gag		chromosome 9 open reading frame 3							94	82	86					9																	97717559		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97717559A>G	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1762A>G	9.37:g.97717559A>G	ENSP00000364464:p.Lys588Glu					C9orf3_ENST00000297979.5_Missense_Mutation_p.K489E	p.K588E	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	7	1762	+			588					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.1762A>G	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952565	0.73787	.	.	ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;0.999	D;D;D;D	0.97110	0.999;1.0;0.99;0.997	T	0.70238	-0.4927	10	0.87932	D	0	-25.926	12.6087	0.56538	1.0:0.0:0.0:0.0	.	7;588;489;489	E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.;AMPO_HUMAN;.;.	E	489;588;312;370;7	ENSP00000297979:K489E;ENSP00000364464:K588E;ENSP00000402171:K312E;ENSP00000401854:K370E	ENSP00000297979:K489E	K	+	1	0	C9orf3	96757380	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.260000	0.72502	2.226000	0.72624	0.533000	0.62120	AAG		0.423	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		24	30	0	0	0	1	0	24	30					G	97717559	A	G	97717559	3	3	120	1	0	0	0	0	1	0	0	0	2477	15	1	4	1483	4	C9orf3	9	97717559	Missense_Mutation	SNP	A	TCGA-SR-A6MS-01A-11D-A35I-08		97717559	43495872	7	2186										
INTS4	92105	broad.mit.edu	37	chr11	77702156	77702156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctcaagattttcttacctTgtaataatgttccaagagaa	5	8	2	2			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr11:77702156T>C	ENST00000534064.1	-	2	278	c.244A>G	c.(244-246)Aag>Gag	p.K82E	INTS4_ENST00000529807.1_Missense_Mutation_p.K82E|INTS4_ENST00000527522.1_Missense_Mutation_p.K82E	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	82					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTTACCTTGTAATAATGT	0.418																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(244-246)Aag>Gag		integrator complex subunit 4							86	85	85					11																	77702156		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77702156T>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.244A>G	11.37:g.77702156T>C	ENSP00000434466:p.Lys82Glu					INTS4_ENST00000529807.1_Missense_Mutation_p.K82E|INTS4_ENST00000527522.1_Missense_Mutation_p.K82E	p.K82E	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		2	278	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		82					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.244A>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	T	32	5.174823	0.94807	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	T;T	0.64991	-0.13;1.47	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.76898	-0.2789	10	0.49607	T	0.09	-19.0133	15.6077	0.76685	0.0:0.0:0.0:1.0	.	82	Q96HW7	INT4_HUMAN	E	82	ENSP00000434466:K82E;ENSP00000433644:K82E	ENSP00000407787:K82E	K	-	1	0	INTS4	77379804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.272000	0.75746	0.523000	0.50628	AAG		0.418	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		3	60	0	0	0	1	0	3	60					C	77702156	T	C	77702156	3	2	120	1	0	0	0	0	1	0	0	0	7780	1821	63	4	2735	4	INTS4	11	77702156	Missense_Mutation	SNP	T	TCGA-SR-A6MS-01A-11D-A35I-08		77702156	57304360	8	2187										
MYBBP1A	10514	broad.mit.edu	37	chr17	4453557	4453557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgagaaggccactagcacgGccagctgccgctcagggtca	13	13	2	1			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:4453557G>A	ENST00000254718.4	-	9	1421	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A372V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	372	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CACTAGCACGGCCAGCTGCCG	0.622																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1114-1116)gCc>gTc		MYB binding protein (P160) 1a							129	135	133					17																	4453557		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453557G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1115C>T	17.37:g.4453557G>A	ENSP00000254718:p.Ala372Val					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A372V	p.A372V			Q9BQG0	MBB1A_HUMAN			9	1421	-			372			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1115C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	1.581	-0.531543	0.04112	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.68181	-0.31;-0.31	4.89	4.89	0.63831	Armadillo-type fold (1);	0.357078	0.31976	N	0.006772	T	0.59662	0.2210	L	0.47716	1.5	0.28109	N	0.931077	P;B	0.35468	0.503;0.447	B;B	0.36244	0.22;0.14	T	0.54918	-0.8221	10	0.22109	T	0.4	-6.3061	14.906	0.70718	0.0:0.0:1.0:0.0	.	372;372	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	V	372	ENSP00000370968:A372V;ENSP00000254718:A372V	ENSP00000254718:A372V	A	-	2	0	MYBBP1A	4400306	0.995000	0.38212	0.011000	0.14972	0.022000	0.10575	2.762000	0.47597	2.559000	0.86315	0.655000	0.94253	GCC		0.622	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		4	220	0	0	0	1	0	4	220					A	4453557	G	A	4453557	3	1	120	1	0	0	0	0	1	0	0	0	10008	1203	42	3	2983	3	MYBBP1A	17	4453557	Missense_Mutation	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08		4453557	76741653	9	2188										
TTLL6	284076	broad.mit.edu	37	chr17	46868938	46868938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgttgtagctgtggtcctcCaagtatgcactgaaggtgga	13	8	0	1			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:46868938C>T	ENST00000393382.3	-	9	1167	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	TTLL6_ENST00000433608.2_Silent_p.L35L	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGTGGTCCTCCAAGTATGCAC	0.557											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1024-1026)ttG>ttA		tubulin tyrosine ligase-like family, member 6							247	175	199					17																	46868938		2203	4300	6503	SO:0001819	synonymous_variant	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868938C>T	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1026G>A	17.37:g.46868938C>T			OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_ENST00000433608.2_Silent_p.L35L	p.L342L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			9	1167	-			294			TTL.			Silent	SNP	ENST00000393382.3	37	c.1026G>A	CCDS45724.1																																																																																				0.557	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		24	42	0	0	0	1	0	24	42					T	46868938	C	T	46868938	2	4	120	1	0	0	0	0	0	0	0	1	16728	593	21	3		3	TTLL6	17	46868938	Silent	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08	42415381	46868938	34326272	10	2189										
FBF1	85302	broad.mit.edu	37	chr17	73909901	73909901	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgggccagactcagatgctcCtgtccccgttcccccagaaa	9	16	1	3			TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr17:73909901C>T	ENST00000586717.1	-	27	3358		c.e27-1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site|RP11-552F3.12_ENST00000587556.1_5'Flank			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1						apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCAGATGCTCCTGTCCCCGTT	0.677																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.e27-1		Fas (TNFRSF6) binding factor 1							18	21	20					17																	73909901		2002	4179	6181	SO:0001630	splice_region_variant	85302							g.chr17:73909901C>T	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.3085-1G>A	17.37:g.73909901C>T						FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site				A6NLR5	A6NLR5_HUMAN			27	3358	-								B5MEM5|Q96IF6|Q96JG4|Q96MA8	Splice_Site	SNP	ENST00000586717.1	37			.	.	.	.	.	.	.	.	.	.	C	21.7	4.189074	0.78789	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7731	0.85544	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBF1	71421496	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.654000	0.54453	2.286000	0.76751	0.455000	0.32223	.		0.677	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	Intron	6	7	0	0	0	1	0	6	7					T	73909901	C	T	73909901	5	4	120	1	0	0	0	0	0	0	1	0	5695	695	24	3	329	3	FBF1	17	73909901	Splice_Site	SNP	C	TCGA-SR-A6MS-01A-11D-A35I-08	27040963	73909901	7285309	11	2190										
RINL	126432	broad.mit.edu	37	chr19	39359959	39359959	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcagggaggcgcgggcctcGgagctgagcccccggggagc	20	13	0	1	rs369751216		TCGA-SR-A6MS-01A-11D-A35I-08	TCGA-SR-A6MS-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c08c0cb-7ea6-4239-ad78-c1b9cf70cb8a	909b443d-f52c-4c16-842b-55e6b7eb666d	g.chr19:39359959G>C	ENST00000591812.1	-	11	1652	c.1566C>G	c.(1564-1566)tcC>tcG	p.S522S	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Silent_p.S408S|RINL_ENST00000598904.1_Silent_p.S408S|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	522					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S408S(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGCGGGCCTCGGAGCTGAGCC	0.657																																						ENST00000340740.3																			1	Substitution - coding silent(1)	p.S408S(1)	lung(1)	endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(1222-1224)tcC>tcG		Ras and Rab interactor-like		G	,	0,4406		0,0,2203	64	72	69		1566,1224	-11	0.1	19		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RINL	NM_001195833.1,NM_198445.3	,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,	522/567,408/453	39359959	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39359959G>C	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1566C>G	19.37:g.39359959G>C						RINL_ENST00000591812.1_Silent_p.S522S|RINL_ENST00000598904.1_Silent_p.S408S	p.S408S	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			11	1611	-			408					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.1224C>G	CCDS59386.1																																																																																				0.657	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		41	70	0	0	0	1	0	41	70					C	39359959	G	C	39359959	2	2	120	1	0	0	0	0	0	0	0	1	13375	1103	39	5		5	RINL	19	39359959	Silent	SNP	G	TCGA-SR-A6MS-01A-11D-A35I-08		39359959	19769024	12	2191										
CYP4Z1	199974	broad.mit.edu	37	chr1	47548102	47548102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	cattctgaaaatattcatcaCcatgatgtctgagagtgttc	7	8	4	3			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr1:47548102C>A	ENST00000334194.3	+	4	464	c.461C>A	c.(460-462)aCc>aAc	p.T154N		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	154						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATATTCATCACCATGATGTCT	0.483																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(460-462)aCc>aAc		cytochrome P450, family 4, subfamily Z, polypeptide 1							81	74	77					1																	47548102		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47548102C>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.461C>A	1.37:g.47548102C>A	ENSP00000334246:p.Thr154Asn						p.T154N	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			4	464	+			154					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.461C>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	2.347	-0.349686	0.05173	.	.	ENSG00000186160	ENST00000334194	T	0.68025	-0.3	2.4	-4.81	0.03180	.	0.491893	0.15365	U	0.266147	T	0.41858	0.1177	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.31390	0.129	T	0.24119	-1.0169	10	0.23891	T	0.37	.	7.4051	0.26985	0.4437:0.3711:0.1852:0.0	.	154	Q86W10	CP4Z1_HUMAN	N	154	ENSP00000334246:T154N	ENSP00000334246:T154N	T	+	2	0	CYP4Z1	47320689	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-2.989000	0.00658	-2.843000	0.00334	0.427000	0.28365	ACC		0.483	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		3	20	1	0	0.00024832	1	0.000260145	3	20					A	47548102	C	A	47548102	3	1	121	1	0	0	0	0	1	0	0	0	4194	507	18	5	475	5	CYP4Z1	1	47548102	Missense_Mutation	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		47548102	201702519	1	2192										
KCNT2	343450	broad.mit.edu	37	chr1	196398825	196398825	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	aaaacgtcacaatgcagaaaTaaagggagtcaaagagattc	9	6	2	2			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr1:196398825T>C	ENST00000294725.9	-	9	1616	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	KCNT2_ENST00000367433.5_Missense_Mutation_p.Y234C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.Y234C|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y234C|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	234					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGCAGAAATAAAGGGAGTC	0.388																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(700-702)tAt>tGt		potassium channel, subfamily T, member 2							101	89	93					1																	196398825		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398825T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.701A>G	1.37:g.196398825T>C	ENSP00000294725:p.Tyr234Cys					KCNT2_ENST00000294725.8_Missense_Mutation_p.Y234C|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Y234C|KCNT2_ENST00000498426.1_5'UTR	p.Y234C			Q6UVM3	KCNT2_HUMAN			9	802	-			234					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.701A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137057	0.77775	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.48201	0.82;0.82;0.82	5.31	5.31	0.75309	Ion transport 2 (1);	0.000000	0.49305	D	0.000147	T	0.80433	0.4622	H	0.98238	4.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.88015	0.2765	10	0.87932	D	0	-19.7056	15.2557	0.73582	0.0:0.0:0.0:1.0	.	234;234;234;234	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	C	234;234;55;234	ENSP00000356403:Y234C;ENSP00000356401:Y234C;ENSP00000294725:Y234C	ENSP00000294725:Y234C	Y	-	2	0	KCNT2	194665448	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.035000	0.88872	2.012000	0.59069	0.533000	0.62120	TAT		0.388	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		11	12	0	0	0	1	0	11	12					C	196398825	T	C	196398825	3	2	121	1	0	0	0	0	1	0	0	0	8092	1406	49	4	2786	4	KCNT2	1	196398825	Missense_Mutation	SNP	T	TCGA-SR-A6MT-01A-11D-A35I-08	148850723	196398825	52851796	2	2193										
TCF23	150921	broad.mit.edu	37	chr2	27372135	27372135	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	caggacaaggcaggacccgtGggaagaaagaagctggagca							TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr2:27372135delG	ENST00000296096.5	+	1	264	c.134delG	c.(133-135)tggfs	p.W45fs	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	45					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACCCGTGGGAAGAAAGA	0.637																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(133-135)tgfs		transcription factor 23							36	30	32					2																	27372135		2178	4289	6467	SO:0001589	frameshift_variant	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27372135delG	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.134delG	2.37:g.27372135delG	ENSP00000296096:p.Trp45fs					TCF23_ENST00000407815.3_3'UTR	p.W45fs	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			1	264	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		45					B2RNZ3	Frame_Shift_Del	DEL	ENST00000296096.5	37	c.134delG	CCDS33163.1																																																																																				0.637	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		2	4						2	4	---	---	---	---	-	27372135	G	-	27372135	7	5	121	1	0	1	0	1	0	0	0	0	15689	1357	47	0	136	0	TCF23	2	27372135	Frame_Shift_Del	DEL	G	TCGA-SR-A6MT-01A-11D-A35I-08		27372135	215827238	3	2194										
FXR1	8087	broad.mit.edu	37	chr3	180630496	180630496	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	ggcggagctgacggtggaggTtcgcggctctaacggggctt	19	9	1	1			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr3:180630496T>G	ENST00000357559.4	+	1	407	c.23T>G	c.(22-24)gTt>gGt	p.V8G	FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.V8G|FXR1_ENST00000491062.1_Missense_Mutation_p.V8G|FXR1_ENST00000491674.1_Missense_Mutation_p.V8G|FXR1_ENST00000480918.1_5'Flank|FXR1_ENST00000468861.1_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	8	Agenet-like 1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGGTGGAGGTTCGCGGCTCT	0.592											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(22-24)gTt>gGt		fragile X mental retardation, autosomal homolog 1							146	145	146					3																	180630496		2203	4300	6503	SO:0001583	missense	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180630496T>G	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.23T>G	3.37:g.180630496T>G	ENSP00000350170:p.Val8Gly		OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1963	FXR1_ENST00000491674.1_Missense_Mutation_p.V8G|FXR1_ENST00000491062.1_Missense_Mutation_p.V8G|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000445140.2_Missense_Mutation_p.V8G|FXR1_ENST00000305586.7_5'UTR	p.V8G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		1	407	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		8					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.23T>G	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685380	0.29872	.	.	ENSG00000114416	ENST00000357559;ENST00000491674;ENST00000491062;ENST00000445140	T;T;T	0.59906	0.89;0.48;0.23	3.93	2.78	0.32641	.	0.292430	0.31246	N	0.007986	T	0.70176	0.3194	M	0.71036	2.16	0.80722	D	1	D;B;B	0.89917	1.0;0.019;0.007	D;B;B	0.91635	0.999;0.156;0.026	T	0.70389	-0.4885	10	0.87932	D	0	-2.4011	7.6175	0.28167	0.0:0.1043:0.0:0.8957	.	8;8;8	E9PFF5;P51114-2;P51114	.;.;FXR1_HUMAN	G	8	ENSP00000350170:V8G;ENSP00000420643:V8G;ENSP00000388828:V8G	ENSP00000350170:V8G	V	+	2	0	FXR1	182113190	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.941000	0.63540	0.867000	0.35654	0.459000	0.35465	GTT		0.592	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			22	65	0	0	0	1	0	22	65					G	180630496	T	G	180630496	3	3	121	1	0	0	0	0	1	0	0	0	6115	1725	60	5	25	5	FXR1	3	180630496	Missense_Mutation	SNP	T	TCGA-SR-A6MT-01A-11D-A35I-08		180630496	17391934	4	2195										
SEPT8	23176	broad.mit.edu	37	chr5	132099470	132099470	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	cctgtgggcgtgatgaagtaGaggcaaacgtggatccttgt	15	7	0	3			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr5:132099470G>C	ENST00000378719.2	-	4	699	c.462C>G	c.(460-462)ctC>ctG	p.L154L	SEPT8_ENST00000378699.2_Silent_p.L94L|SEPT8_ENST00000448933.1_Silent_p.L94L|SEPT8_ENST00000378701.1_Silent_p.L152L|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378721.4_Silent_p.L152L|SEPT8_ENST00000296873.7_Silent_p.L154L|SEPT8_ENST00000378706.1_Silent_p.L154L|SEPT8_ENST00000458488.2_Silent_p.L154L	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	154	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATGAAGTAGAGGCAAACGT	0.512																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(460-462)ctC>ctG		septin 8							193	196	195					5																	132099470		2038	4202	6240	SO:0001819	synonymous_variant	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099470G>C	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.462C>G	5.37:g.132099470G>C						SEPT8_ENST00000448933.1_Silent_p.L94L|SEPT8_ENST00000378699.2_Silent_p.L94L|SEPT8_ENST00000378701.1_Silent_p.L152L|SEPT8_ENST00000458488.2_Silent_p.L154L|SEPT8_ENST00000378706.1_Silent_p.L154L|SEPT8_ENST00000378719.2_Silent_p.L154L|SEPT8_ENST00000378721.4_Silent_p.L152L	p.L154L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	745	-		all_cancers(142;0.0751)|Breast(839;0.198)	154					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	c.462C>G	CCDS43358.1																																																																																				0.512	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		7	137	0	0	0	1	0	7	137					C	132099470	G	C	132099470	2	2	121	1	0	0	0	0	0	0	0	1	14070	929	33	5		5	SEPT8	5	132099470	Silent	SNP	G	TCGA-SR-A6MT-01A-11D-A35I-08		132099470	48815790	5	2196										
SOX4	6659	broad.mit.edu	37	chr6	21595016	21595016	+	Frame_Shift_Del	DEL	T	T	-													0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	catggagcagtcgcccgacaTgcacaacgccgagatctcca							TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr6:21595016delT	ENST00000244745.1	+	1	1045	c.251delT	c.(250-252)atgfs	p.M84fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.M84fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	84					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TCGCCCGACATGCACAACGCC	0.607																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(250-252)agfs		SRY (sex determining region Y)-box 4							39	35	37					6																	21595016		2203	4300	6503	SO:0001589	frameshift_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595016delT	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.251delT	6.37:g.21595016delT	ENSP00000244745:p.Met84fs					SOX4_ENST00000543472.1_Frame_Shift_Del_p.M84fs	p.M84fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1045	+	Ovarian(93;0.163)		84						Frame_Shift_Del	DEL	ENST00000244745.1	37	c.251delT	CCDS4547.1																																																																																				0.607	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		2	4						2	4	---	---	---	---	-	21595016	T	-	21595016	7	5	121	1	0	1	0	1	0	0	0	0	14953	1464	51	0	253	0	SOX4	6	21595016	Frame_Shift_Del	DEL	T	TCGA-SR-A6MT-01A-11D-A35I-08		21595016	149520051	6	2197										
RSBN1L	222194	broad.mit.edu	37	chr7	77326163	77326163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	cttgtctcagccggtgccgcGcaaactgctggtccctccta	10	16	1	0			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:77326163G>A	ENST00000334955.8	+	1	404	c.377G>A	c.(376-378)cGc>cAc	p.R126H	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	126						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGGTGCCGCGCAAACTGCTG	0.677																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(376-378)cGc>cAc		round spermatid basic protein 1-like							18	23	22					7																	77326163		2150	4241	6391	SO:0001583	missense	222194					nucleus		g.chr7:77326163G>A	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.377G>A	7.37:g.77326163G>A	ENSP00000334040:p.Arg126His						p.R126H	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			1	404	+			126					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.377G>A	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550493	0.65311	.	.	ENSG00000187257	ENST00000334955	T	0.07444	3.19	3.52	3.52	0.40303	.	0.504809	0.18273	N	0.146255	T	0.15912	0.0383	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.03673	-1.1014	10	0.46703	T	0.11	-5.4532	12.2417	0.54546	0.0:0.0:1.0:0.0	.	126	Q6PCB5	RSBNL_HUMAN	H	126	ENSP00000334040:R126H	ENSP00000334040:R126H	R	+	2	0	RSBN1L	77164099	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.044000	0.49830	1.948000	0.56530	0.313000	0.20887	CGC		0.677	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		3	27	0	0	0	1	0	3	27					A	77326163	G	A	77326163	3	1	121	1	0	0	0	0	1	0	0	0	13697	1087	38	1	379	1	RSBN1L	7	77326163	Missense_Mutation	SNP	G	TCGA-SR-A6MT-01A-11D-A35I-08		77326163	81812500	7	2198										
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	58	0	0	0	1	0	3	58					G	114269973	A	G	114269973	2	3	121	1	0	0	0	0	0	0	0	1	6027	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-SR-A6MT-01A-11D-A35I-08	36943810	114269973	44868690	8	2199										
DAK	26007	broad.mit.edu	37	chr11	61110893	61110893	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	atgcctggcatttctctcacCctcctgctggtggatgagcc	10	14	2	1			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr11:61110893C>A	ENST00000394900.3	+	11	1174	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	315	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TTTCTCTCACCCTCCTGCTGG	0.592																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(943-945)acC>acA		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							107	104	105					11																	61110893		2203	4299	6502	SO:0001819	synonymous_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110893C>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.945C>A	11.37:g.61110893C>A							p.T315T	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			11	1174	+			315			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	c.945C>A	CCDS8003.1																																																																																				0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		5	54	1	0	1.06961e-07	1	1.17657e-07	5	54					A	61110893	C	A	61110893	2	1	121	1	0	0	0	0	0	0	0	1	4228	610	22	5		5	DAK	11	61110893	Silent	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		61110893	73895623	9	2200										
HAP1	9001	broad.mit.edu	37	chr17	39884515	39884515	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	ccgagcgacctcctgctgctGccgttcatagttttccagcc	9	16	1	0			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr17:39884515G>A	ENST00000310778.5	-	7	1147	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	HAP1_ENST00000393939.2_Nonsense_Mutation_p.Q380*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q388*|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q380*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	380	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCCTGCTGCTGCCGTTCATAG	0.657																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1138-1140)Cag>Tag		huntingtin-associated protein 1							48	42	44					17																	39884515		2203	4300	6503	SO:0001587	stop_gained	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39884515G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1138C>T	17.37:g.39884515G>A	ENSP00000309392:p.Gln380*					HAP1_ENST00000341193.5_Nonsense_Mutation_p.Q388*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.Q380*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.Q380*	p.Q380*			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		7	1147	-		Breast(137;0.000162)	380			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Nonsense_Mutation	SNP	ENST00000310778.5	37	c.1138C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.582033	0.86748	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	.	.	.	4.14	3.16	0.36331	.	0.000000	0.39687	N	0.001299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.6099	7.9593	0.30062	0.1125:0.0:0.8875:0.0	.	.	.	.	X	380;380;380;388	.	ENSP00000309392:Q380X	Q	-	1	0	HAP1	37138041	1.000000	0.71417	0.978000	0.43139	0.580000	0.36256	2.546000	0.45778	0.989000	0.38761	0.549000	0.68633	CAG		0.657	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		4	42	0	0	0	1	0	4	42					A	39884515	G	A	39884515	4	1	121	1	0	0	0	0	0	1	0	0	6953	1328	46	3	741	3	HAP1	17	39884515	Nonsense_Mutation	SNP	G	TCGA-SR-A6MT-01A-11D-A35I-08		39884515	41310695	10	2201										
KCNH6	81033	broad.mit.edu	37	chr17	61619703	61619703	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	actgcgacctgcacaagatcCagcgggcagatctgctggag	13	12	1	2			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr17:61619703C>T	ENST00000583023.1	+	9	2067	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q686*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q633*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	686					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCACAAGATCCAGCGGGCAGA	0.592																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2056-2058)Cag>Tag		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						103	87	92					17																	61619703		2203	4300	6503	SO:0001587	stop_gained	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61619703C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2056C>T	17.37:g.61619703C>T	ENSP00000463533:p.Gln686*					KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q686*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q633*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q633*	p.Q686*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			9	2067	+			686					Q9BRD7	Nonsense_Mutation	SNP	ENST00000583023.1	37	c.2056C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	38	6.698726	0.97772	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	.	.	.	4.73	4.73	0.59995	.	0.256304	0.32204	N	0.006431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	17.687	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	X	686;633	.	ENSP00000318212:Q686X	Q	+	1	0	KCNH6	58973435	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.999000	0.70665	2.148000	0.66965	0.467000	0.42956	CAG		0.592	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		16	23	0	0	0	1	0	16	23					T	61619703	C	T	61619703	4	4	121	1	0	0	0	0	0	1	0	0	8036	595	21	3	2090	3	KCNH6	17	61619703	Nonsense_Mutation	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08	21735188	61619703	19575507	11	2202										
HPS4	89781	broad.mit.edu	37	chr22	26854435	26854435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	1	1	1.62962962962963	8.14814814814815	0	1	1	0	cagcaagctctgaatgcggtCgtaatgtgtgaagttgtagg	14	6	1	2			TCGA-SR-A6MT-01A-11D-A35I-08	TCGA-SR-A6MT-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcacf523-f3c2-4869-a508-495c63961c4b	035aa651-02f7-48c3-b98b-23baf22ea71d	g.chr22:26854435C>T	ENST00000398145.2	-	12	2438	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.D621N|HPS4_ENST00000336873.5_Missense_Mutation_p.D608N|HPS4_ENST00000402105.3_Missense_Mutation_p.D603N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	608					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGAATGCGGTCGTAATGTGTG	0.577									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1822-1824)Gac>Aac		Hermansky-Pudlak syndrome 4							113	89	97					22																	26854435		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26854435C>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1822G>A	22.37:g.26854435C>T	ENSP00000381213:p.Asp608Asn					HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.D603N|HPS4_ENST00000398141.1_Missense_Mutation_p.D621N|HPS4_ENST00000336873.5_Missense_Mutation_p.D608N	p.D608N	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			12	2438	-			608					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1822G>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155505	0.94686	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.77103	2.36	0.49582	D	0.9998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.54516	-0.8282	10	0.87932	D	0	-36.7621	16.8245	0.85927	0.0:1.0:0.0:0.0	.	608;608;608;621;603	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	N	608;621;603;608	ENSP00000381213:D608N;ENSP00000381210:D621N;ENSP00000384185:D603N;ENSP00000338457:D608N	ENSP00000338457:D608N	D	-	1	0	HPS4	25184435	1.000000	0.71417	0.883000	0.34634	0.862000	0.49288	6.553000	0.73918	2.437000	0.82529	0.655000	0.94253	GAC		0.577	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		4	43	0	0	0	1	0	4	43					T	26854435	C	T	26854435	3	4	121	1	0	0	0	0	1	0	0	0	7341	884	31	2	316	2	HPS4	22	26854435	Missense_Mutation	SNP	C	TCGA-SR-A6MT-01A-11D-A35I-08		26854435	24450131	12	2203										
AHCTF1	25909	broad.mit.edu	37	chr1	247067288	247067288	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ctgatgccaaacactttctaTtaccaaaggccagctgcagc	7	13	1	1			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr1:247067288T>A	ENST00000391829.2	-	7	1052	c.929A>T	c.(928-930)aAt>aTt	p.N310I	AHCTF1_ENST00000366508.1_Missense_Mutation_p.N345I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	310	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACACTTTCTATTACCAAAGGC	0.328																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(1033-1035)aAt>aTt		AT hook containing transcription factor 1							80	77	78					1																	247067288		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247067288T>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.929A>T	1.37:g.247067288T>A	ENSP00000375705:p.Asn310Ile					AHCTF1_ENST00000391829.2_Missense_Mutation_p.N310I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.N319I	p.N345I			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		7	1170	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	310			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.1034A>T		.	.	.	.	.	.	.	.	.	.	T	18.11	3.551690	0.65311	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.22539	1.95;1.95;1.95	5.37	5.37	0.77165	.	0.101870	0.64402	D	0.000004	T	0.13030	0.0316	N	0.08118	0	0.36361	D	0.86073	B;B	0.20052	0.041;0.031	B;B	0.09377	0.004;0.002	T	0.10132	-1.0643	10	0.66056	D	0.02	-16.6712	15.3675	0.74535	0.0:0.0:0.0:1.0	.	345;310	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	I	345;319;310	ENSP00000355464:N345I;ENSP00000355465:N319I;ENSP00000375705:N310I	ENSP00000355465:N319I	N	-	2	0	AHCTF1	245133911	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.503000	0.81632	2.027000	0.59764	0.455000	0.32223	AAT		0.328	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		8	27	0	0	0	1	0	8	27					A	247067288	T	A	247067288	3	1	122	1	0	0	0	0	1	0	0	0	408	1493	52	5	5991	5	AHCTF1	1	247067288	Missense_Mutation	SNP	T	TCGA-SR-A6MU-01A-11D-A35I-08		247067288	2183333	1	2204										
ZAK	51776	broad.mit.edu	37	chr2	174085985	174085985	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	cagatcacagcaacaagtaaCggggagggccatggcatgaa	13	9	1	2	rs547368395		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr2:174085985C>T	ENST00000375213.3	+	11	1065				MLTK_ENST00000338983.3_Silent_p.N365N|MLTK_ENST00000539448.1_Silent_p.N365N|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Silent_p.N264N|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CAACAAGTAACGGGGAGGGCC	0.478																																						ENST00000338983.3																			0											c.(1093-1095)aaC>aaT									125	128	127					2																	174085985		2203	4300	6503	SO:0001627	intron_variant	51776							g.chr2:174085985C>T																												ENST00000375213.3:c.987+4007C>T	2.37:g.174085985C>T						MLTK_ENST00000431503.2_Silent_p.N264N|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000539448.1_Silent_p.N365N|MLTK_ENST00000375213.3_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	p.N365N	NM_133646.2	NP_598407.1					12	1290	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	c.1095C>T	CCDS42777.1																																																																																				0.478	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			6	64	0	0	0	1	0	6	64					T	174085985	C	T	174085985	1	4	122	0	1	0	0	0	0	0	0	0	17509	535	19	1		1	ZAK	2	174085985	Intron	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		174085985	69113388	2	2205										
HECW2	57520	broad.mit.edu	37	chr2	197184340	197184340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ccggcctggagtggccattgTgttcgatagcatctaagtaa	12	9	1	0			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr2:197184340T>C	ENST00000260983.3	-	9	1456	c.1274A>G	c.(1273-1275)cAc>cGc	p.H425R	HECW2_ENST00000409111.1_Missense_Mutation_p.H69R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	425					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.H425P(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGCCATTGTGTTCGATAGC	0.507																																						ENST00000260983.2																			1	Substitution - Missense(1)	p.H425P(1)	large_intestine(1)	biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1273-1275)cAc>cGc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							68	70	69					2																	197184340		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184340T>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1274A>G	2.37:g.197184340T>C	ENSP00000260983:p.His425Arg					HECW2_ENST00000409111.1_Missense_Mutation_p.H69R	p.H425R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1456	-			425					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1274A>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658035	0.14645	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30182	1.54;1.57	5.54	5.54	0.83059	.	1.182270	0.05616	N	0.578971	T	0.20820	0.0501	N	0.08118	0	0.39516	D	0.968433	B	0.24186	0.099	B	0.19946	0.027	T	0.02713	-1.1120	10	0.19147	T	0.46	.	14.3964	0.67013	0.0:0.0:0.0:1.0	.	425	Q9P2P5	HECW2_HUMAN	R	69;425	ENSP00000386775:H69R;ENSP00000260983:H425R	ENSP00000260983:H425R	H	-	2	0	HECW2	196892585	1.000000	0.71417	0.812000	0.32479	0.030000	0.12068	4.961000	0.63681	2.321000	0.78463	0.528000	0.53228	CAC		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		9	59	0	0	0	1	0	9	59					C	197184340	T	C	197184340	3	2	122	1	0	0	0	0	1	0	0	0	7043	1696	59	4	3528	4	HECW2	2	197184340	Missense_Mutation	SNP	T	TCGA-SR-A6MU-01A-11D-A35I-08	23098355	197184340	46015033	3	2206										
NSUN7	79730	broad.mit.edu	37	chr4	40792724	40792724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	tcgttgttcaggactgggtgTtagtaatccagtagaattta	11	5	1	1			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr4:40792724T>C	ENST00000381782.2	+	8	1637	c.1142T>C	c.(1141-1143)gTt>gCt	p.V381A	NSUN7_ENST00000316607.5_Missense_Mutation_p.V381A	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	381							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GGACTGGGTGTTAGTAATCCA	0.269																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1141-1143)gTt>gCt		NOP2/Sun domain family, member 7							74	80	78					4																	40792724		2203	4296	6499	SO:0001583	missense	79730							g.chr4:40792724T>C	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1142T>C	4.37:g.40792724T>C	ENSP00000371201:p.Val381Ala					NSUN7_ENST00000316607.5_Missense_Mutation_p.V381A	p.V381A	NM_024677.4	NP_078953.3					8	1637	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.1142T>C	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120815	0.56613	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.45668	0.89;0.89	5.86	5.86	0.93980	.	0.371868	0.28262	N	0.015995	T	0.48169	0.1485	M	0.77313	2.365	0.40631	D	0.981857	P;B	0.39696	0.683;0.204	B;B	0.38755	0.281;0.093	T	0.54529	-0.8280	10	0.48119	T	0.1	-12.4423	15.2231	0.73330	0.0:0.0:0.0:1.0	.	381;381	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	A	381	ENSP00000371201:V381A;ENSP00000319127:V381A	ENSP00000319127:V381A	V	+	2	0	NSUN7	40487481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.673000	0.54591	2.238000	0.73509	0.477000	0.44152	GTT		0.269	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		3	70	0	0	0	1	0	3	70					C	40792724	T	C	40792724	3	2	122	1	0	0	0	0	1	0	0	0	10683	1725	60	4	1168	4	NSUN7	4	40792724	Missense_Mutation	SNP	T	TCGA-SR-A6MU-01A-11D-A35I-08		40792724	150361552	4	2207										
TCF19	6941	broad.mit.edu	37	chr6	31129467	31129467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ctcccagggggctccacagcGgcctctcagcaccttctccc	9	20	2	0			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:31129467G>A	ENST00000376257.3	+	3	1236	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q|TCF19_ENST00000496421.1_Intron	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	161					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCTCCACAGCGGCCTCTCAGC	0.647																																						ENST00000376257.3																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(481-483)cGg>cAg		transcription factor 19							60	69	66					6																	31129467		1234	2525	3759	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31129467G>A	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.482G>A	6.37:g.31129467G>A	ENSP00000365433:p.Arg161Gln					TCF19_ENST00000376255.4_Missense_Mutation_p.R161Q|TCF19_ENST00000496421.1_Intron	p.R161Q	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			3	1236	+			161					A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.482G>A	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569243	0.65765	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.25414	1.87;1.87;1.8	5.71	4.83	0.62350	.	0.139336	0.51477	D	0.000099	T	0.18551	0.0445	M	0.62723	1.935	0.29896	N	0.824791	D	0.57899	0.981	P	0.47603	0.551	T	0.04203	-1.0969	10	0.30854	T	0.27	-19.8026	11.7129	0.51635	0.0848:0.0:0.9152:0.0	.	161	Q9Y242	TCF19_HUMAN	Q	161;161;81	ENSP00000365433:R161Q;ENSP00000365431:R161Q;ENSP00000439397:R81Q	ENSP00000365431:R161Q	R	+	2	0	TCF19	31237446	0.962000	0.33011	0.997000	0.53966	0.665000	0.39181	2.079000	0.41577	2.695000	0.91970	0.549000	0.68633	CGG		0.647	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		6	38	0	0	0	1	0	6	38					A	31129467	G	A	31129467	3	1	122	1	0	0	0	0	1	0	0	0	15686	1116	39	2	488	2	TCF19	6	31129467	Missense_Mutation	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		31129467	139985600	5	2208										
NOTCH4	4855	broad.mit.edu	37	chr6	32163789	32163789	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	cagcagcgtcagcagatcccAgtggttacgttggtgagcga	14	10	1	2			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:32163789A>G	ENST00000375023.3	-	30	5575	c.5437T>C	c.(5437-5439)Tgg>Cgg	p.W1813R	NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1813					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCAGATCCCAGTGGTTACGT	0.716																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5437-5439)Tgg>Cgg		notch 4							10	13	12					6																	32163789		1392	2641	4033	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163789A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5437T>C	6.37:g.32163789A>G	ENSP00000364163:p.Trp1813Arg					NOTCH4_ENST00000443903.2_3'UTR	p.W1813R	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5575	-			1813					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5437T>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314704	0.60524	.	.	ENSG00000204301	ENST00000375023	T	0.70399	-0.48	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.000000	0.40222	N	0.001142	T	0.56775	0.2008	N	0.17082	0.46	0.80722	D	1	P;D	0.71674	0.93;0.998	P;D	0.66084	0.671;0.941	T	0.61217	-0.7107	10	0.33940	T	0.23	.	7.1325	0.25510	0.9006:0.0:0.0994:0.0	.	1813;1812	Q99466;B0S882	NOTC4_HUMAN;.	R	1813	ENSP00000364163:W1813R	ENSP00000364163:W1813R	W	-	1	0	NOTCH4	32271767	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.360000	0.66086	2.099000	0.63709	0.460000	0.39030	TGG		0.716	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	9	0	0	0	1	0	7	9					G	32163789	A	G	32163789	3	3	122	1	0	0	0	0	1	0	0	0	10551	188	7	4	578	4	NOTCH4	6	32163789	Missense_Mutation	SNP	A	TCGA-SR-A6MU-01A-11D-A35I-08	1034322	32163789	138951278	6	2209										
C6orf58	352999	broad.mit.edu	37	chr6	127911362	127911362	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	tccagaagggcatgccaccaCgaattcttcttaatactgat	7	11	2	2	rs527828175		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr6:127911362C>T	ENST00000329722.7	+	5	817	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	269						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CATGCCACCACGAATTCTTCT	0.403																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(805-807)Cga>Tga		chromosome 6 open reading frame 58							172	169	170					6																	127911362		2203	4300	6503	SO:0001587	stop_gained	352999					extracellular region		g.chr6:127911362C>T	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.805C>T	6.37:g.127911362C>T	ENSP00000328069:p.Arg269*						p.R269*	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	817	+			269					B4E1I0|Q5VUP2	Nonsense_Mutation	SNP	ENST00000329722.7	37	c.805C>T	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605890	0.28623	.	.	ENSG00000184530	ENST00000329722	.	.	.	5.01	-0.908	0.10517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0099	7.3022	0.26426	0.602:0.3096:0.0:0.0884	.	.	.	.	X	269	.	ENSP00000328069:R269X	R	+	1	2	C6orf58	127953055	0.005000	0.15991	0.139000	0.22197	0.049000	0.14656	-0.196000	0.09532	-0.026000	0.13895	0.655000	0.94253	CGA		0.403	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		9	117	0	0	0	1	0	9	117					T	127911362	C	T	127911362	4	4	122	1	0	0	0	0	0	1	0	0	2367	528	19	1	823	1	C6orf58	6	127911362	Nonsense_Mutation	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08	95747573	127911362	43203705	7	2210										
ZEB1	6935	broad.mit.edu	37	chr10	31791358	31791358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	gagtttctacaacaacaagaCactgctgtcatttttcctga	6	10	2	2			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr10:31791358C>T	ENST00000320985.10	+	4	512	c.402C>T	c.(400-402)gaC>gaT	p.D134D	ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000446923.2_Silent_p.D118D|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.D114D			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	134					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AACAACAAGACACTGCTGTCA	0.408																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(352-354)gaC>gaT		zinc finger E-box binding homeobox 1							148	140	142					10																	31791358		2203	4300	6503	SO:0001819	synonymous_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31791358C>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.402C>T	10.37:g.31791358C>T						ZEB1_ENST00000320985.10_Silent_p.D134D|ZEB1_ENST00000542815.3_Silent_p.D67D|ZEB1_ENST00000361642.5_Silent_p.D135D|ZEB1_ENST00000560721.2_Silent_p.D114D|ZEB1_ENST00000559858.1_3'UTR	p.D118D	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			4	745	+		Prostate(175;0.0156)	134					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	c.354C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261691	0.23051	.	.	ENSG00000148516	ENST00000543514	.	.	.	5.82	0.811	0.18739	.	.	.	.	.	T	0.63710	0.2534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64901	-0.6298	5	0.87932	D	0	-22.9099	9.1713	0.37083	0.0:0.5329:0.0:0.4671	.	.	.	.	I	26	.	ENSP00000443742:T26I	T	+	2	0	ZEB1	31831364	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.522000	0.22909	0.374000	0.24650	0.650000	0.86243	ACA		0.408	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		6	40	0	0	0	1	0	6	40					T	31791358	C	T	31791358	2	4	122	1	0	0	0	0	0	0	0	1	17620	477	17	3		3	ZEB1	10	31791358	Silent	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		31791358	103743389	8	2211										
FLRT2	23768	broad.mit.edu	37	chr14	86089608	86089608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ggaaatacaaccggggccggCggaaagatgattattgcgag	15	7	0	2			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr14:86089608C>T	ENST00000330753.4	+	2	2517	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	584					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCGGGGCCGGCGGAAAGATGA	0.493																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1750-1752)Cgg>Tgg		fibronectin leucine rich transmembrane protein 2							85	93	90					14																	86089608		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089608C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1750C>T	14.37:g.86089608C>T	ENSP00000332879:p.Arg584Trp					FLRT2_ENST00000554746.1_Missense_Mutation_p.R584W	p.R584W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2517	+			584					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1750C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662086	0.67700	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.61040	0.14;0.14	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.68853	-0.5299	10	0.87932	D	0	-20.5728	20.8794	0.99867	0.0:1.0:0.0:0.0	.	584	O43155	FLRT2_HUMAN	W	584;584;237	ENSP00000332879:R584W;ENSP00000451050:R584W	ENSP00000332879:R584W	R	+	1	2	FLRT2	85159361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.013000	0.64023	2.941000	0.99782	0.655000	0.94253	CGG		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			9	74	0	0	0	1	0	9	74					T	86089608	C	T	86089608	3	4	122	1	0	0	0	0	1	0	0	0	5939	759	27	1	1752	1	FLRT2	14	86089608	Missense_Mutation	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		86089608	21259932	9	2212										
ATP6V0C	527	broad.mit.edu	37	chr16	2569716	2569716	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	gtgctcggcctctacggtctCatcgtcgccctcatcctctc	8	18	4	0			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr16:2569716C>T	ENST00000330398.4	+	3	672	c.438C>T	c.(436-438)ctC>ctT	p.L146L	AMDHD2_ENST00000413459.3_5'Flank|ATP6V0C_ENST00000564973.1_Silent_p.L103L|ATP6C_ENST00000569317.1_Intron|RP11-20I23.1_ENST00000564543.1_3'UTR|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Silent_p.L103L|AMDHD2_ENST00000302956.4_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	146					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TCTACGGTCTCATCGTCGCCC	0.597																																						ENST00000330398.4																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(436-438)ctC>ctT		ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c							70	68	68					16																	2569716		2198	4300	6498	SO:0001819	synonymous_variant	527				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding	g.chr16:2569716C>T	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"ATPases / V-type"	855	protein-coding gene	gene with protein product		108745	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.438C>T	16.37:g.2569716C>T						ATP6V0C_ENST00000565223.1_Silent_p.L103L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.L103L|RP11-20I23.1_ENST00000564543.1_3'UTR	p.L146L	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN			3	672	+		Ovarian(90;0.17)	146					Q6FH26	Silent	SNP	ENST00000330398.4	37	c.438C>T	CCDS10470.1																																																																																				0.597	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		4	56	0	0	0	1	0	4	56					T	2569716	C	T	2569716	2	4	122	1	0	0	0	0	0	0	0	1	1172	813	29	3		3	ATP6V0C	16	2569716	Silent	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		2569716	87785037	10	2213										
HYDIN	54768	broad.mit.edu	37	chr16	71103196	71103196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	agcagcaaatccctgggggcGaatggtgccacagtcaggag	15	10	1	0	rs140028548		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr16:71103196G>A	ENST00000393567.2	-	14	2098	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C|HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	650					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCCTGGGGGCGAATGGTGCCA	0.488																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(1948-1950)Cgc>Tgc		HYDIN, axonemal central pair apparatus protein		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4394		0,0,2197	58	61	60		2029,1999,1948,1948	5.3	1	16	dbSNP_134	60	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense	HYDIN	NM_001198542.1,NM_001198543.1,NM_017558.3,NM_032821.2	180,180,180,180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	677/951,667/941,650/1018,650/5121	71103196	1,12987	2197	4297	6494	SO:0001583	missense	54768							g.chr16:71103196G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1948C>T	16.37:g.71103196G>A	ENSP00000377197:p.Arg650Cys					HYDIN_ENST00000541601.1_Missense_Mutation_p.R667C|HYDIN_ENST00000538248.1_Missense_Mutation_p.R677C|HYDIN_ENST00000448691.1_Missense_Mutation_p.R650C|HYDIN_ENST00000448089.2_Missense_Mutation_p.R650C|HYDIN_ENST00000393550.2_Missense_Mutation_p.R665C|HYDIN_ENST00000321489.5_Missense_Mutation_p.R650C|HYDIN_ENST00000288168.10_Missense_Mutation_p.R667C	p.R650C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			14	2098	-		Ovarian(137;0.0654)	650					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.1948C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493998	0.84962	0.0	1.16E-4	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.27	5.27	0.74061	.	0.000000	0.33792	U	0.004547	T	0.66799	0.2826	M	0.77616	2.38	0.58432	D	0.999999	P;P;D;P;D	0.89917	0.892;0.892;1.0;0.892;1.0	P;P;D;B;D	0.91635	0.474;0.474;0.94;0.405;0.999	T	0.69371	-0.5163	10	0.54805	T	0.06	.	17.7221	0.88355	0.0:0.0:1.0:0.0	.	677;667;667;650;650	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	C	650;650;650;650;650;677;667;667;665	ENSP00000377197:R650C;ENSP00000398544:R650C;ENSP00000394826:R650C;ENSP00000314736:R650C;ENSP00000444970:R677C;ENSP00000437341:R667C;ENSP00000288168:R667C;ENSP00000377181:R665C	ENSP00000288168:R667C	R	-	1	0	HYDIN	69660697	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.091000	0.76923	2.474000	0.83562	0.603000	0.83216	CGC		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	35	0	0	0	1	0	6	35					A	71103196	G	A	71103196	3	1	122	1	0	0	0	0	1	0	0	0	7467	1058	37	2	13718	2	HYDIN	16	71103196	Missense_Mutation	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08	68533480	71103196	19251557	11	2214										
ABCA9	10350	broad.mit.edu	37	chr17	66979978	66979978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ttgcttttcaggtgttggatGgaaccaatacatctgaaggt	11	6	2	1			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000453985.2_Silent_p.S1466S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4510-4512)tcC>tcT		ATP-binding cassette, sub-family A (ABC1), member 9							98	88	91					17																	66979978		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979978G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4512C>T	17.37:g.66979978G>A						ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.S1466S	p.S1504S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			36	4723	-	Breast(10;1.47e-12)		1504			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4512C>T	CCDS11681.1																																																																																				0.468	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	55	0	0	0	1	0	3	55					A	66979978	G	A	66979978	2	1	122	1	0	0	0	0	0	0	0	1	39	1335	47	3		3	ABCA9	17	66979978	Silent	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		66979978	14215232	12	2215										
FAM187B	148109	broad.mit.edu	37	chr19	35718939	35718939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ctgaagttgtcaaaaatgacGtaatccacccttaactgtgt	7	9	1	2	rs13382163		TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr19:35718939G>A	ENST00000324675.3	-	1	693	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	215						integral component of membrane (GO:0016021)		p.Y215Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CAAAAATGACGTAATCCACCC	0.537																																						ENST00000324675.3																			1	Substitution - coding silent(1)	p.Y215Y(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(643-645)taC>taT		family with sequence similarity 187, member B							99	82	88					19																	35718939		2203	4300	6503	SO:0001819	synonymous_variant	148109					integral to membrane		g.chr19:35718939G>A	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.645C>T	19.37:g.35718939G>A							p.Y215Y	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	693	-			215					Q8N7G6	Silent	SNP	ENST00000324675.3	37	c.645C>T	CCDS12448.1																																																																																				0.537	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		3	22	0	0	0	1	0	3	22					A	35718939	G	A	35718939	2	1	122	1	0	0	0	0	0	0	0	1	5513	1140	40	1		1	FAM187B	19	35718939	Silent	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		35718939	23410044	13	2216										
MARK4	57787	broad.mit.edu	37	chr19	45790742	45790742	+	Frame_Shift_Del	DEL	C	C	-													0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	cccctgcaccccaaacgcagCccgacgagcacgggggaggc							TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr19:45790742delC	ENST00000262891.4	+	13	1645	c.1314delC	c.(1312-1314)agcfs	p.S438fs	MARK4_ENST00000300843.4_Frame_Shift_Del_p.S438fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	438					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAACGCAGCCCGACGAGCA	0.701																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1312-1314)agfs		MAP/microtubule affinity-regulating kinase 4							8	10	9					19																	45790742		2146	4227	6373	SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45790742delC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1314delC	19.37:g.45790742delC	ENSP00000262891:p.Ser438fs					MARK4_ENST00000262891.4_Frame_Shift_Del_p.S438fs	p.S438fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	13	1611	+		all_neural(266;0.224)|Ovarian(192;0.231)	438					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Del	DEL	ENST00000262891.4	37	c.1314delC	CCDS56097.1																																																																																				0.701	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		2	4						2	4	---	---	---	---	-	45790742	C	-	45790742	7	5	122	1	0	1	0	1	0	0	0	0	9315	738	26	0	1364	0	MARK4	19	45790742	Frame_Shift_Del	DEL	C	TCGA-SR-A6MU-01A-11D-A35I-08	10071803	45790742	13338241	14	2217										
CPXM1	56265	broad.mit.edu	37	chr20	2775281	2775281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ccactcctgcaatgcccatgCgcacctgtgtgggaagaggt	12	13	0	1			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr20:2775281C>T	ENST00000380605.2	-	13	1929	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	622					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AATGCCCATGCGCACCTGtgt	0.552																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1864-1866)cGc>cAc		carboxypeptidase X (M14 family), member 1							148	94	112					20																	2775281		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775281C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1865G>A	20.37:g.2775281C>T	ENSP00000369979:p.Arg622His						p.R622H	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			13	1929	-			622					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1865G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	8.601	0.886828	0.17540	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03065	4.06	5.53	5.53	0.82687	Peptidase M14, carboxypeptidase A (1);	0.051839	0.85682	D	0.000000	T	0.00875	0.0029	N	0.00166	-1.94	0.43745	D	0.996249	B	0.19706	0.038	B	0.08055	0.003	T	0.48885	-0.8995	10	0.02654	T	1	-23.4047	10.2233	0.43209	0.0:0.9129:0.0:0.0871	.	622	Q96SM3	CPXM1_HUMAN	H	622;318	ENSP00000369979:R622H	ENSP00000369979:R622H	R	-	2	0	CPXM1	2723281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.171000	0.50824	2.882000	0.98803	0.655000	0.94253	CGC		0.552	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		3	30	0	0	0	1	0	3	30					T	2775281	C	T	2775281	3	4	122	1	0	0	0	0	1	0	0	0	3837	768	27	1	347	1	CPXM1	20	2775281	Missense_Mutation	SNP	C	TCGA-SR-A6MU-01A-11D-A35I-08		2775281	60250239	15	2218										
GRIK1	2897	broad.mit.edu	37	chr21	30927396	30927396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0625	1	1	0.682926829268293	NA	0.682926829268293	1	1	0	ttcaatatcattattcttccGtgatttgtatatgaattctc	4	7	4	2			TCGA-SR-A6MU-01A-11D-A35I-08	TCGA-SR-A6MU-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3a73077-d1b2-4000-9184-0b300022c629	eca93414-506d-4dcc-948b-670ab178a569	g.chr21:30927396G>A	ENST00000399907.1	-	16	2995	c.2584C>T	c.(2584-2586)Cgg>Tgg	p.R862W	GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000399914.1_Missense_Mutation_p.R847W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	862			R -> Q. {ECO:0000269|PubMed:11702055}.		adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R847W(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTATTCTTCCGTGATTTGTAT	0.393																																						ENST00000399914.1																			1	Substitution - Missense(1)	p.R847W(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2539-2541)Cgg>Tgg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						66	66	66					21																	30927396		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30927396G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2584C>T	21.37:g.30927396G>A	ENSP00000382791:p.Arg862Trp					GRIK1_ENST00000309434.7_Missense_Mutation_p.R864W|GRIK1_ENST00000399913.1_Missense_Mutation_p.R862W|GRIK1_ENST00000389124.2_Missense_Mutation_p.R862W|GRIK1_ENST00000389125.3_Missense_Mutation_p.R847W|GRIK1_ENST00000399909.1_Missense_Mutation_p.R847W|GRIK1_ENST00000399907.1_Missense_Mutation_p.R862W|GRIK1_ENST00000327783.4_Missense_Mutation_p.R862W|GRIK1_ENST00000535441.1_Missense_Mutation_p.R864W	p.R847W			P39086	GRIK1_HUMAN			15	3060	-			862					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2539C>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756531	0.69648	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.16324	2.35;2.42;2.4;2.36;2.41;2.35;2.36;2.4;2.38	5.1	4.16	0.48862	.	0.096519	0.64402	D	0.000003	T	0.19406	0.0466	N	0.08118	0	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	P;P;D;D	0.66497	0.88;0.88;0.915;0.944	T	0.13072	-1.0523	10	0.87932	D	0	.	10.889	0.46984	0.0:0.0:0.51:0.49	.	847;862;862;847	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	W	862;847;862;847;864;723;862;862;847;864	ENSP00000327687:R862W;ENSP00000373777:R847W;ENSP00000382797:R862W;ENSP00000382798:R847W;ENSP00000446326:R864W;ENSP00000373776:R862W;ENSP00000382791:R862W;ENSP00000382793:R847W;ENSP00000311646:R864W	ENSP00000311646:R864W	R	-	1	2	GRIK1	29849267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.189000	0.42621	1.418000	0.47098	0.650000	0.86243	CGG		0.393	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			5	30	0	0	0	1	0	5	30					A	30927396	G	A	30927396	3	1	122	1	0	0	0	0	1	0	0	0	6773	1144	40	1	340	1	GRIK1	21	30927396	Missense_Mutation	SNP	G	TCGA-SR-A6MU-01A-11D-A35I-08		30927396	17202499	16	2219										
SF3A3	10946	broad.mit.edu	37	chr1	38455621	38455621	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	catgatagcgccgctgctgcTccagtattgtctccatcttc	8	14	2	1			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr1:38455621T>C	ENST00000373019.4	-	1	972	c.17A>G	c.(16-18)gAg>gGg	p.E6G	RNU6-510P_ENST00000391239.1_RNA|SF3A3_ENST00000448721.2_Missense_Mutation_p.E6G|SF3A3_ENST00000489537.1_5'Flank	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	6					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGCTGCTGCTCCAGTATTGT	0.592											OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(16-18)gAg>gGg		splicing factor 3a, subunit 3, 60kDa							114	104	107					1																	38455621		2203	4300	6503	SO:0001583	missense	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38455621T>C	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"splicing factor 3a, subunit 3, 60kD"			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.17A>G	1.37:g.38455621T>C	ENSP00000362110:p.Glu6Gly		OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	SF3A3_ENST00000448721.2_Missense_Mutation_p.E6G	p.E6G	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			1	972	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	6					D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	c.17A>G	CCDS428.1	.	.	.	.	.	.	.	.	.	.	T	32	5.127112	0.94429	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	4.86	4.86	0.63082	.	0.047751	0.85682	D	0.000000	D	0.85869	0.5797	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.979	D	0.89739	0.3932	9	0.87932	D	0	-24.9809	14.9046	0.70709	0.0:0.0:0.0:1.0	.	6;6	E7EUT8;Q12874	.;SF3A3_HUMAN	G	6	.	ENSP00000362110:E6G	E	-	2	0	SF3A3	38228208	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.532000	0.81985	2.171000	0.68590	0.377000	0.23210	GAG		0.592	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		6	63	0	0	0	1	0	6	63					C	38455621	T	C	38455621	3	2	123	1	0	0	0	0	1	0	0	0	14148	1551	54	4	1556	4	SF3A3	1	38455621	Missense_Mutation	SNP	T	TCGA-SR-A6MV-01A-11D-A35I-08		38455621	210795000	1	2220										
FAM159A	348378	broad.mit.edu	37	chr1	53108560	53108560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcgctctcataggcctgtccGtagcagcagtggttcttctc	11	13	3	0	rs557241775	byFrequency	TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr1:53108560G>A	ENST00000517870.1	+	2	358	c.208G>A	c.(208-210)Gta>Ata	p.V70I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	70						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCTGTCCGTAGCAGCAGT	0.522													g|||	2	0.000399361	0	0	5008	,	,		17083	0		0	False		,,,				2504	0.002					ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(208-210)Gta>Ata		family with sequence similarity 159, member A							268	258	261					1																	53108560		2085	4199	6284	SO:0001583	missense	348378					integral to membrane		g.chr1:53108560G>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.208G>A	1.37:g.53108560G>A	ENSP00000429726:p.Val70Ile					FAM159A_ENST00000401050.3_3'UTR	p.V70I	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			2	358	+			70					Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.208G>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.750825	0.00663	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.7	-3.8	0.04307	.	0.710719	0.11665	N	0.541468	T	0.05960	0.0155	N	0.00289	-1.7	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.41502	-0.9505	9	0.02654	T	1	.	12.7823	0.57485	0.6176:0.0:0.3824:0.0	.	70	Q6UWV7	F159A_HUMAN	I	70	.	ENSP00000429726:V70I	V	+	1	0	FAM159A	52881148	0.890000	0.30428	0.951000	0.38953	0.004000	0.04260	0.743000	0.26231	-0.564000	0.06070	-2.008000	0.00441	GTA		0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		4	115	0	0	0	1	0	4	115					A	53108560	G	A	53108560	3	1	123	1	0	0	0	0	1	0	0	0	5468	1145	40	1	214	1	FAM159A	1	53108560	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08	14652939	53108560	196142061	2	2221										
EPAS1	2034	broad.mit.edu	37	chr2	46607406	46607406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggagacactggcaccctAtatccccatggacggggaag	12	12	0	1			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr2:46607406A>G	ENST00000263734.3	+	12	2105	c.1595A>G	c.(1594-1596)tAt>tGt	p.Y532C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	532	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCACCCTATATCCCCATG	0.587																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1594-1596)tAt>tGt		endothelial PAS domain protein 1							84	92	89					2																	46607406		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607406A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1595A>G	2.37:g.46607406A>G	ENSP00000263734:p.Tyr532Cys						p.Y532C	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2105	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	532			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1595A>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246852	0.80024	.	.	ENSG00000116016	ENST00000263734	D	0.98400	-4.91	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99861	1.1083	10	0.87932	D	0	.	14.8316	0.70153	1.0:0.0:0.0:0.0	.	532	Q99814	EPAS1_HUMAN	C	532	ENSP00000263734:Y532C	ENSP00000263734:Y532C	Y	+	2	0	EPAS1	46460910	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.335000	0.96500	1.915000	0.55452	0.402000	0.26972	TAT		0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		75	10	0	0	0	1	0	75	10					G	46607406	A	G	46607406	3	3	123	1	0	0	0	0	1	0	0	0	5150	449	16	4	1641	4	EPAS1	2	46607406	Missense_Mutation	SNP	A	TCGA-SR-A6MV-01A-11D-A35I-08		46607406	196591967	3	2222										
EHBP1	23301	broad.mit.edu	37	chr2	63220752	63220752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgttcagcaaagattctacaGtcagaaaaactcaacttcag	6	9	5	2			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr2:63220752G>A	ENST00000263991.5	+	19	3516	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	EHBP1_ENST00000405289.1_Missense_Mutation_p.V977I|EHBP1_ENST00000431489.1_Missense_Mutation_p.V941I|EHBP1_ENST00000354487.3_Missense_Mutation_p.V977I|EHBP1_ENST00000405015.3_Missense_Mutation_p.V941I|EHBP1_ENST00000496857.1_3'UTR	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1012						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATTCTACAGTCAGAAAAAC	0.338																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(3034-3036)Gtc>Atc		EH domain binding protein 1							61	61	61					2																	63220752		2203	4299	6502	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63220752G>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3034G>A	2.37:g.63220752G>A	ENSP00000263991:p.Val1012Ile					EHBP1_ENST00000405289.1_Missense_Mutation_p.V977I|EHBP1_ENST00000354487.3_Missense_Mutation_p.V977I|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.V941I|EHBP1_ENST00000431489.1_Missense_Mutation_p.V941I	p.V1012I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		19	3516	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		1012					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.3034G>A	CCDS1872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.981|9.981	1.228254|1.228254	0.22542|0.22542	.|.	.|.	ENSG00000115504|ENSG00000115504	ENST00000422032|ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.|T;T;T;T;T	.|0.75477	.|-0.82;-0.82;-0.92;-0.94;-0.94	5.92|5.92	4.1|4.1	0.47936|0.47936	.|.	.|0.067156	.|0.56097	.|N	.|0.000025	T|T	0.68540|0.68540	0.3012|0.3012	L|L	0.59436|0.59436	1.845|1.845	0.50632|0.50632	D|D	0.999889|0.999889	.|B;B;B	.|0.10296	.|0.003;0.003;0.002	.|B;B;B	.|0.15484	.|0.013;0.01;0.006	T|T	0.61207|0.61207	-0.7109|-0.7109	5|10	.|0.20519	.|T	.|0.43	.|.	12.7049|12.7049	0.57056|0.57056	0.1343:0.0:0.8657:0.0|0.1343:0.0:0.8657:0.0	.|.	.|977;941;1012	.|Q8NDI1-2;Q8NDI1-3;Q8NDI1	.|.;.;EHBP1_HUMAN	N|I	171|941;941;1012;977;977	.|ENSP00000384143:V941I;ENSP00000403783:V941I;ENSP00000263991:V1012I;ENSP00000346482:V977I;ENSP00000385524:V977I	.|ENSP00000263991:V1012I	S|V	+|+	2|1	0|0	EHBP1|EHBP1	63074256|63074256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.633000|5.633000	0.67825|0.67825	0.817000|0.817000	0.34445|0.34445	0.650000|0.650000	0.86243|0.86243	AGT|GTC		0.338	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		8	42	0	0	0	1	0	8	42					A	63220752	G	A	63220752	3	1	123	1	0	0	0	0	1	0	0	0	4975	1029	36	3	3104	3	EHBP1	2	63220752	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08	16613346	63220752	179978621	4	2223										
ARSI	340075	broad.mit.edu	37	chr5	149677492	149677492	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gttgctttcgcttgagcaggGgactgtggacaaagcctagg	15	8	0	1			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr5:149677492G>T	ENST00000328668.7	-	2	1574	c.995C>A	c.(994-996)cCc>cAc	p.P332H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	332					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGAGCAGGGGACTGTGGAC	0.637																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(994-996)cCc>cAc		arylsulfatase family, member I							42	42	42					5																	149677492		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677492G>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.995C>A	5.37:g.149677492G>T	ENSP00000333395:p.Pro332His						p.P332H	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1574	-			332					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.995C>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001068	0.74818	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.99488	-6.0;-6.0	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99680	0.9880	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97370	0.9975	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	332	Q5FYB1	ARSI_HUMAN	H	332;189	ENSP00000333395:P332H;ENSP00000426879:P189H	ENSP00000333395:P332H	P	-	2	0	ARSI	149657685	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.601000	0.98297	2.460000	0.83146	0.561000	0.74099	CCC		0.637	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		7	31	1	0	3.09899e-07	1	3.09899e-07	7	31					T	149677492	G	T	149677492	3	4	123	1	0	0	0	0	1	0	0	0	994	1232	43	5	718	5	ARSI	5	149677492	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08		149677492	31237768	5	2224										
GSTA1	2938	broad.mit.edu	37	chr6	52658986	52658986	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atcaaggcaagcttggcatcTttttcctcaggtggacatac	9	10	3	0			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr6:52658986T>C	ENST00000334575.5	-	5	506	c.351A>G	c.(349-351)aaA>aaG	p.K117K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	117	GST C-terminal.		K -> Q (in dbSNP:rs1051757).		epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GCTTGGCATCTTTTTCCTCAG	0.398																																						ENST00000334575.5																			0				large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(349-351)aaA>aaG		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						209	202	205					6																	52658986		2203	4300	6503	SO:0001819	synonymous_variant	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52658986T>C		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"Glutathione S-transferases / Soluble"	4626	protein-coding gene	gene with protein product		138359	"glutathione S-transferase A1"			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.351A>G	6.37:g.52658986T>C						GSTA1_ENST00000493331.1_5'UTR	p.K117K	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN			5	506	-	Lung NSC(77;0.118)		117		K -> Q (in dbSNP:rs1051757).	GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Silent	SNP	ENST00000334575.5	37	c.351A>G	CCDS4945.1																																																																																				0.398	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			4	194	0	0	0	1	0	4	194					C	52658986	T	C	52658986	2	2	123	1	0	0	0	0	0	0	0	1	6830	1606	56	4		4	GSTA1	6	52658986	Silent	SNP	T	TCGA-SR-A6MV-01A-11D-A35I-08		52658986	118456081	6	2225										
COL19A1	1310	broad.mit.edu	37	chr6	70854156	70854156	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggcattaaaggagaaaagGtatagtttacattttcctca	8	5	1	1			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr6:70854156G>A	ENST00000322773.4	+	24	1782		c.e24+1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGAAAAGGTATAGTTTAC	0.398																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.e24+1		collagen, type XIX, alpha 1							94	91	92					6																	70854156		2203	4300	6503	SO:0001630	splice_region_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70854156G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1680+1G>A	6.37:g.70854156G>A						COL19A1_ENST00000393344.1_Splice_Site		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			24	1782	+								Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37		CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968438	0.34754	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0673	0.86562	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70910877	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	6.643000	0.74334	2.529000	0.85273	0.650000	0.86243	.		0.398	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron	41	60	0	0	0	1	0	41	60					A	70854156	G	A	70854156	5	1	123	1	0	0	0	0	0	0	1	0	3676	1275	44	3	1771	3	COL19A1	6	70854156	Splice_Site	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08	18195170	70854156	100260911	7	2226										
CUX1	1523	broad.mit.edu	37	chr7	101559400	101559400	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtttccccaacagagagaActcgatgccaccgcaacggt	9	14	0	2			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr7:101559400A>G	ENST00000292535.7	+	2	74	c.36A>G	c.(34-36)gaA>gaG	p.E12E	CUX1_ENST00000437600.4_Silent_p.E23E|CUX1_ENST00000292538.4_Silent_p.E23E|CUX1_ENST00000546411.2_Silent_p.E12E|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.E12E|CUX1_ENST00000556210.1_Silent_p.E12E|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.E23E|CUX1_ENST00000425244.2_Silent_p.E23E|CUX1_ENST00000360264.3_Silent_p.E23E|CUX1_ENST00000549414.2_Silent_p.E12E	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	12					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACAGAGAGAACTCGATGCCA	0.502																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(67-69)gaA>gaG		cut-like homeobox 1							147	143	144					7																	101559400		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559400A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.36A>G	7.37:g.101559400A>G						CUX1_ENST00000546411.2_Silent_p.E12E|CUX1_ENST00000437600.4_Silent_p.E23E|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Silent_p.E23E|CUX1_ENST00000292535.7_Silent_p.E12E|CUX1_ENST00000550008.2_Silent_p.E12E|CUX1_ENST00000292538.4_Silent_p.E23E|CUX1_ENST00000549414.2_Silent_p.E12E|CUX1_ENST00000425244.2_Silent_p.E23E|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Silent_p.E12E	p.E23E	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			2	89	+			12					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.69A>G	CCDS5721.1																																																																																				0.502	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		9	121	0	0	0	1	0	9	121					G	101559400	A	G	101559400	2	3	123	1	0	0	0	0	0	0	0	1	4064	40	2	4		4	CUX1	7	101559400	Silent	SNP	A	TCGA-SR-A6MV-01A-11D-A35I-08		101559400	57579263	8	2227										
ARNTL	406	broad.mit.edu	37	chr11	13402802	13402802	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttctccaggaggcaagaagGtaagactgatgattcttagc	11	8	2	4			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr11:13402802G>A	ENST00000403290.1	+	18	1972		c.e18+1		ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGGCAAGAAGGTAAGACTGAT	0.502																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.e18+1		aryl hydrocarbon receptor nuclear translocator-like							111	98	103					11																	13402802		2200	4294	6494	SO:0001630	splice_region_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13402802G>A	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1617+1G>A	11.37:g.13402802G>A						ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000403482.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000403290.1_Splice_Site				O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	18	2067	+								A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	ENST00000403290.1	37			.	.	.	.	.	.	.	.	.	.	G	28.2	4.899610	0.91962	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3418	0.94344	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13359378	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.340000	0.97038	2.731000	0.93534	0.650000	0.86243	.		0.502	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	Intron	3	37	0	0	0	1	0	3	37					A	13402802	G	A	13402802	5	1	123	1	0	0	0	0	0	0	1	0	967	1275	44	3	1684	3	ARNTL	11	13402802	Splice_Site	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08		13402802	121603714	9	2228										
EPS8	2059	broad.mit.edu	37	chr12	15800190	15800190	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgatactctgatacactgGaatgctgaaagacaaagtgg	11	6	1	4			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr12:15800190G>C	ENST00000281172.5	-	15	1875	c.1439C>G	c.(1438-1440)tCc>tGc	p.S480C	EPS8_ENST00000542903.1_Missense_Mutation_p.S220C|EPS8_ENST00000543523.1_Missense_Mutation_p.S480C|EPS8_ENST00000543612.1_Missense_Mutation_p.S480C|EPS8_ENST00000540613.1_Missense_Mutation_p.S220C	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	480					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGATACACTGGAATGCTGAAA	0.428																																						ENST00000281172.5																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1438-1440)tCc>tGc		epidermal growth factor receptor pathway substrate 8							114	108	110					12																	15800190		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15800190G>C	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1439C>G	12.37:g.15800190G>C	ENSP00000281172:p.Ser480Cys					EPS8_ENST00000542903.1_Missense_Mutation_p.S220C|EPS8_ENST00000540613.1_Missense_Mutation_p.S220C|EPS8_ENST00000543612.1_Missense_Mutation_p.S480C|EPS8_ENST00000543523.1_Missense_Mutation_p.S480C	p.S480C	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	15	1875	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	480					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1439C>G	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183135	0.78677	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07800	3.3;3.3;3.3;3.16;3.16	4.26	4.26	0.50523	.	0.611997	0.16676	N	0.204157	T	0.20333	0.0489	L	0.55481	1.735	0.34207	D	0.673825	D	0.53885	0.963	P	0.55391	0.775	T	0.13899	-1.0492	10	0.52906	T	0.07	-3.756	17.2305	0.86983	0.0:0.0:1.0:0.0	.	480	Q12929	EPS8_HUMAN	C	480;480;480;220;220;480	ENSP00000441867:S480C;ENSP00000281172:S480C;ENSP00000442388:S480C;ENSP00000441888:S220C;ENSP00000437806:S220C	ENSP00000281172:S480C	S	-	2	0	EPS8	15691457	1.000000	0.71417	0.604000	0.28916	0.979000	0.70002	5.554000	0.67294	2.373000	0.80994	0.563000	0.77884	TCC		0.428	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			15	43	0	0	0	1	0	15	43					C	15800190	G	C	15800190	3	2	123	1	0	0	0	0	1	0	0	0	5194	1174	41	5	1057	5	EPS8	12	15800190	Missense_Mutation	SNP	G	TCGA-SR-A6MV-01A-11D-A35I-08		15800190	118051705	10	2229										
SEZ6L2	26470	broad.mit.edu	37	chr16	29908335	29908335	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	cctgaccccgttaggggtgaCggctgttgtcagaggccctg							TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr16:29908335delC	ENST00000308713.5	-	3	846	c.319delG	c.(319-321)gtcfs	p.V107fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Del_p.V63fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Del_p.V107fs|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	107	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAGGGGTGACGGCTGTTGTC	0.736																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(319-321)tcfs		seizure related 6 homolog (mouse)-like 2							6	9	8					16																	29908335		2166	4248	6414	SO:0001589	frameshift_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29908335delC	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.319delG	16.37:g.29908335delC	ENSP00000312550:p.Val107fs					SEZ6L2_ENST00000537485.1_Frame_Shift_Del_p.V63fs|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000346932.5_Frame_Shift_Del_p.V107fs|SEZ6L2_ENST00000562159.1_5'UTR	p.V107fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			3	846	-			107			Pro-rich.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Del	DEL	ENST00000308713.5	37	c.319delG	CCDS10659.1																																																																																				0.736	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		2	4						2	4	---	---	---	---	-	29908335	C	-	29908335	7	5	123	1	0	1	0	1	0	0	0	0	14144	536	19	0	2516	0	SEZ6L2	16	29908335	Frame_Shift_Del	DEL	C	TCGA-SR-A6MV-01A-11D-A35I-08		29908335	60446418	11	2230										
ZNF507	22847	broad.mit.edu	37	chr19	32845169	32845169	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctggctactgatgagaatgCcccaccaggccggagaagga	13	12	0	3			TCGA-SR-A6MV-01A-11D-A35I-08	TCGA-SR-A6MV-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60e6543-bc1d-4fb9-9149-548b39eb42fd	4180fbb4-7ea0-44cd-bb1e-b0899579ad93	g.chr19:32845169C>T	ENST00000311921.4	+	2	1625	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	ZNF507_ENST00000355898.5_Missense_Mutation_p.A478V|ZNF507_ENST00000544431.1_Missense_Mutation_p.A478V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GATGAGAATGCCCCACCAGGC	0.448																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(1432-1434)gCc>gTc		zinc finger protein 507							81	83	82					19																	32845169		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32845169C>T	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1433C>T	19.37:g.32845169C>T	ENSP00000312277:p.Ala478Val					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.A478V|ZNF507_ENST00000544431.1_Missense_Mutation_p.A478V	p.A478V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1625	+	Esophageal squamous(110;0.162)		478					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1433C>T	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579196	0.46006	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.04603	3.9;3.9;3.59	5.79	5.79	0.91817	.	0.225147	0.47852	D	0.000220	T	0.05823	0.0152	L	0.49640	1.575	0.37926	D	0.931849	B;B	0.26400	0.06;0.148	B;B	0.27380	0.017;0.079	T	0.34551	-0.9824	10	0.12430	T	0.62	.	11.3463	0.49563	0.0:0.8607:0.0:0.1393	.	478;478	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	V	478	ENSP00000348162:A478V;ENSP00000312277:A478V;ENSP00000441549:A478V	ENSP00000312277:A478V	A	+	2	0	ZNF507	37537009	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.366000	0.59492	2.722000	0.93159	0.655000	0.94253	GCC		0.448	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		3	45	0	0	0	1	0	3	45					T	32845169	C	T	32845169	3	4	123	1	0	0	0	0	1	0	0	0	17950	739	26	3	1435	3	ZNF507	19	32845169	Missense_Mutation	SNP	C	TCGA-SR-A6MV-01A-11D-A35I-08		32845169	26283814	12	2231										
LAMC1	3915	broad.mit.edu	37	chr1	183099545	183099545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	tctgtccagccaaattagccGtttacagaatatccggaata	7	10	1	1	rs548688323		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:183099545G>A	ENST00000258341.4	+	19	3604	c.3347G>A	c.(3346-3348)cGt>cAt	p.R1116H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1116	Domain II and I.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R1116H(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CAAATTAGCCGTTTACAGAAT	0.428													G|||	1	0.000199681	0	0.0014	5008	,	,		20388	0		0	False		,,,				2504	0					ENST00000258341.4																			1	Substitution - Missense(1)	p.R1116H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3346-3348)cGt>cAt		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						90	85	87					1																	183099545		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183099545G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3347G>A	1.37:g.183099545G>A	ENSP00000258341:p.Arg1116His						p.R1116H	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			19	3604	+			1116		R -> H (in a colorectal cancer sample; somatic mutation).	Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3347G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758222	0.89843	.	.	ENSG00000135862	ENST00000258341	T	0.22134	1.97	4.94	4.94	0.65067	.	0.051539	0.64402	D	0.000001	T	0.42063	0.1186	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.23833	-1.0177	10	0.11794	T	0.64	.	18.1104	0.89533	0.0:0.0:1.0:0.0	.	1116	P11047	LAMC1_HUMAN	H	1116	ENSP00000258341:R1116H	ENSP00000258341:R1116H	R	+	2	0	LAMC1	181366168	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	8.171000	0.89675	2.442000	0.82660	0.561000	0.74099	CGT		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		10	67	0	0	0	1	0	10	67					A	183099545	G	A	183099545	3	1	124	1	0	0	0	0	1	0	0	0	8614	1145	40	1	3421	1	LAMC1	1	183099545	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		183099545	66151076	1	2232										
LIN9	286826	broad.mit.edu	37	chr1	226453951	226453951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	gaggaggagtataatgtaacCgtggtggggtcataaaaaat	14	3	1	0	rs201671299		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:226453951C>T	ENST00000328205.5	-	9	1492	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	LIN9_ENST00000481685.1_Missense_Mutation_p.R281Q|LIN9_ENST00000366801.1_Missense_Mutation_p.R265Q	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	300					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATAATGTAACCGTGGTGGGGT	0.343													C|||	1	0.000199681	0	0	5008	,	,		9889	0		0	False		,,,				2504	0.001				Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(946-948)cGg>cAg		lin-9 homolog (C. elegans)		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	66	65	66		947	4	1	1		66	0,8600		0,0,4300	no	missense	LIN9	NM_173083.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	316/559	226453951	1,13005	2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226453951C>T	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.947G>A	1.37:g.226453951C>T	ENSP00000329102:p.Arg316Gln					LIN9_ENST00000366801.1_Missense_Mutation_p.R265Q|LIN9_ENST00000481685.1_Missense_Mutation_p.R281Q	p.R316Q	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1492	-	Breast(184;0.158)		300					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.947G>A	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752314	0.69533	2.27E-4	0.0	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	3.97	0.46021	.	0.051200	0.85682	N	0.000000	T	0.68174	0.2972	M	0.64404	1.975	0.58432	D	0.999999	D;D;D	0.89917	0.998;0.999;1.0	P;P;D	0.76575	0.743;0.815;0.988	T	0.64685	-0.6349	9	0.10902	T	0.67	.	12.3055	0.54900	0.0:0.8641:0.0:0.1359	.	281;300;450	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	Q	276;316;371;265;281;450	.	ENSP00000329102:R316Q	R	-	2	0	LIN9	224520574	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.776000	0.75023	0.824000	0.34613	-0.258000	0.10820	CGG		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		27	20	0	0	0	1	0	27	20					T	226453951	C	T	226453951	3	4	124	1	0	0	0	0	1	0	0	0	8813	652	23	2	757	2	LIN9	1	226453951	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	43354406	226453951	22796670	2	2233										
SETD2	29072	broad.mit.edu	37	chr3	47103836	47103836	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	catcccttcctcgttcagttGctaagggaaaagggtggttt	11	9	1	0			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:47103836G>C	ENST00000409792.3	-	14	6152	c.6110C>G	c.(6109-6111)aCa>aGa	p.T2037R	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2037					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCGTTCAGTTGCTAAGGGAAA	0.393			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.e14-1		SET domain containing 2							181	183	182					3																	47103836		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103836G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6110-1C>G	3.37:g.47103836G>C						SETD2_ENST00000492397.1_5'UTR	p.T2037_splice	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6152	-		Acute lymphoblastic leukemia(5;0.0169)	2037					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	c.6109_splice	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	5.763	0.325142	0.10900	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.87887	-2.31	4.77	0.95	0.19572	.	0.965558	0.08488	N	0.938463	T	0.67906	0.2943	N	0.03608	-0.345	0.27428	N	0.9541	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.55698	-0.8100	10	0.12103	T	0.63	.	6.5005	0.22166	0.4809:0.0:0.519:0.0	.	2037;2037	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	2037	ENSP00000386759:T2037R	ENSP00000386759:T2037R	T	-	2	0	SETD2	47078840	1.000000	0.71417	0.994000	0.49952	0.130000	0.20726	1.374000	0.34283	0.412000	0.25729	-0.693000	0.03709	ACA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	Missense_Mutation	58	97	0	0	0	1	0	58	97					C	47103836	G	C	47103836	5	2	124	1	0	0	0	0	0	0	1	0	14131	1333	46	5	1616	5	SETD2	3	47103836	Splice_Site	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		47103836	150918594	3	2234										
TACC3	10460	broad.mit.edu	37	chr4	1732665	1732665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	cctgtggtgcagttggcagcCgagaccccaacagcagagag	14	12	0	2			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:1732665C>T	ENST00000313288.4	+	5	1543	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	479					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTTGGCAGCCGAGACCCCAA	0.632																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1435-1437)gcC>gcT		transforming, acidic coiled-coil containing protein 3							68	61	63					4																	1732665		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1732665C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1437C>T	4.37:g.1732665C>T							p.A479A	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		5	1543	+		Breast(71;0.212)|all_epithelial(65;0.241)	479					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.1437C>T	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	C	3.360	-0.130730	0.06753	.	.	ENSG00000013810	ENST00000343760;ENST00000470136	.	.	.	3.59	-7.19	0.01500	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.076	1.9057	0.03276	0.1733:0.3509:0.2702:0.2056	.	.	.	.	X	120;146	.	ENSP00000345465:R120X	R	+	1	2	TACC3	1702463	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.656000	0.00106	-3.078000	0.00251	-1.155000	0.01812	CGA		0.632	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			3	32	0	0	0	1	0	3	32					T	1732665	C	T	1732665	2	4	124	1	0	0	0	0	0	0	0	1	15500	639	23	2		2	TACC3	4	1732665	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		1732665	189421611	4	2235										
GABRA4	2557	broad.mit.edu	37	chr4	46967155	46967155	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	aaagcaaagcagacagctatGaaccagtccatggcggtagc	11	10	0	2	rs41301813		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:46967155G>T	ENST00000264318.3	-	8	1948	c.966C>A	c.(964-966)ttC>ttA	p.F322L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	322					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGACAGCTATGAACCAGTCCA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(964-966)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						153	130	138					4																	46967155		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967155G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.966C>A	4.37:g.46967155G>T	ENSP00000264318:p.Phe322Leu						p.F322L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			8	1948	-			322					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.966C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966040	0.92855	.	.	ENSG00000109158	ENST00000264318	D	0.86769	-2.17	4.81	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.75447	2.3	0.58432	D	0.999992	D	0.69078	0.997	D	0.74348	0.983	D	0.92519	0.6023	10	0.87932	D	0	.	11.8776	0.52556	0.0836:0.0:0.9164:0.0	.	322	P48169	GBRA4_HUMAN	L	322	ENSP00000264318:F322L	ENSP00000264318:F322L	F	-	3	2	GABRA4	46661912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.618000	0.67722	1.238000	0.43771	0.591000	0.81541	TTC		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			25	46	1	0	3.6726e-16	1	3.93493e-16	25	46					T	46967155	G	T	46967155	3	4	124	1	0	0	0	0	1	0	0	0	6163	1281	45	5	706	5	GABRA4	4	46967155	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	45234490	46967155	144187121	5	2236										
ITPR3	3710	broad.mit.edu	37	chr6	33652604	33652604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	cccagtgccggctggacaagGagggggccaccaagttggta	16	11	0	0			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr6:33652604G>A	ENST00000374316.5	+	40	6251	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1731K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1731					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCTGGACAAGGAGGGGGCCAC	0.627																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(5191-5193)Gag>Aag		inositol 1,4,5-trisphosphate receptor, type 3							64	64	64					6																	33652604		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33652604G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5191G>A	6.37:g.33652604G>A	ENSP00000363435:p.Glu1731Lys					ITPR3_ENST00000605930.1_Missense_Mutation_p.E1731K	p.E1731K			Q14573	ITPR3_HUMAN			40	6251	+			1731					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.5191G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109557	0.94292	.	.	ENSG00000096433	ENST00000374316	D	0.86164	-2.08	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.64997	1.995	0.80722	D	1	B	0.31989	0.35	B	0.29663	0.105	T	0.79112	-0.1937	10	0.36615	T	0.2	-40.71	15.5016	0.75703	0.0:0.1377:0.8623:0.0	.	1731	Q14573	ITPR3_HUMAN	K	1731	ENSP00000363435:E1731K	ENSP00000363435:E1731K	E	+	1	0	ITPR3	33760582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.735000	0.93741	0.655000	0.94253	GAG		0.627	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	63	0	0	0	1	0	6	63					A	33652604	G	A	33652604	3	1	124	1	0	0	0	0	1	0	0	0	7922	1175	41	3	5345	3	ITPR3	6	33652604	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		33652604	137462463	6	2237										
FKBP9	11328	broad.mit.edu	37	chr7	33020059	33020059	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	ccaaggacagcatttccattGagaacaaggtagtacctgaa	9	9	0	2			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:33020059G>C	ENST00000242209.4	+	5	956	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	263					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CATTTCCATTGAGAACAAGGT	0.468																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(787-789)Gag>Cag		FK506 binding protein 9, 63 kDa							150	140	144					7																	33020059		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020059G>C	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	3725	protein-coding gene	gene with protein product			"FK506-binding protein 9 (63 kD)"			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.787G>C	7.37:g.33020059G>C	ENSP00000242209:p.Glu263Gln					FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR	p.E263Q	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	956	+			263					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.787G>C	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581244	0.46006	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.55588	0.51;0.82;0.51;0.91;0.91	5.06	5.06	0.68205	.	0.113216	0.64402	D	0.000012	T	0.58850	0.2151	M	0.62088	1.915	0.47183	D	0.999348	P;P;B;P	0.43885	0.454;0.82;0.386;0.745	B;P;B;B	0.47626	0.079;0.552;0.175;0.28	T	0.54984	-0.8211	10	0.20046	T	0.44	-12.2962	18.4263	0.90610	0.0:0.0:1.0:0.0	.	31;316;263;263	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	Q	263;316;125;31;31	ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q	ENSP00000242209:E263Q	E	+	1	0	FKBP9	32986584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	2.362000	0.80069	0.650000	0.86243	GAG		0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		55	66	0	0	0	1	0	55	66					C	33020059	G	C	33020059	3	2	124	1	0	0	0	0	1	0	0	0	5915	1291	45	5	805	5	FKBP9	7	33020059	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		33020059	126118604	7	2238										
MUC17	140453	broad.mit.edu	37	chr7	100685415	100685415	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	gcgtatgtctactccaagtgAaggaagctcttcattaacaa	8	9	3	1			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:100685415A>T	ENST00000306151.4	+	3	10782	c.10718A>T	c.(10717-10719)gAa>gTa	p.E3573V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3573	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCAAGTGAAGGAAGCTCT	0.468																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10717-10719)gAa>gTa		mucin 17, cell surface associated							197	196	196					7																	100685415		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685415A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10718A>T	7.37:g.100685415A>T	ENSP00000302716:p.Glu3573Val						p.E3573V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10782	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3573			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10718A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	8.193	0.796348	0.16327	.	.	ENSG00000169876	ENST00000306151	T	0.02158	4.42	1.34	1.34	0.21922	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	D	0.72982	0.979	T	0.49762	-0.8905	9	0.29301	T	0.29	.	3.4345	0.07441	0.6412:0.0:0.0:0.3588	.	3573	Q685J3	MUC17_HUMAN	V	3573	ENSP00000302716:E3573V	ENSP00000302716:E3573V	E	+	2	0	MUC17	100472135	0.000000	0.05858	0.119000	0.21687	0.029000	0.11900	-2.111000	0.01333	0.584000	0.29591	0.165000	0.16767	GAA		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		70	92	0	0	0	1	0	70	92					T	100685415	A	T	100685415	3	4	124	1	0	0	0	0	1	0	0	0	9974	246	9	5	10728	5	MUC17	7	100685415	Missense_Mutation	SNP	A	TCGA-SR-A6MX-01A-11D-A35I-08	67665356	100685415	58453248	8	2239										
ZNHIT1	10467	broad.mit.edu	37	chr7	100865908	100865908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	gctcccaggaccccgggcagCggcgggtgctggaccgggct	18	15	0	0			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:100865908C>T	ENST00000305105.2	+	2	574	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	16					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCCGGGCAGCGGCGGGTGCT	0.682																																						ENST00000305105.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11						c.(46-48)Cgg>Tgg		zinc finger, HIT-type containing 1							42	52	49					7																	100865908		2199	4295	6494	SO:0001583	missense	10467						metal ion binding|protein binding	g.chr7:100865908C>T	AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.46C>T	7.37:g.100865908C>T	ENSP00000304593:p.Arg16Trp					ZNHIT1_ENST00000492315.1_3'UTR	p.R16W	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN			2	574	+	Lung NSC(181;0.168)|all_lung(186;0.215)		16					Q6IB12	Missense_Mutation	SNP	ENST00000305105.2	37	c.46C>T	CCDS5716.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459654	0.84317	.	.	ENSG00000106400	ENST00000305105	.	.	.	4.75	3.84	0.44239	.	0.064506	0.64402	D	0.000009	T	0.59797	0.2220	L	0.55990	1.75	0.58432	D	0.999999	D	0.71674	0.998	P	0.50162	0.633	T	0.63695	-0.6579	9	0.66056	D	0.02	-28.7465	12.107	0.53818	0.1731:0.8269:0.0:0.0	.	16	O43257	ZNHI1_HUMAN	W	16	.	ENSP00000304593:R16W	R	+	1	2	ZNHIT1	100652628	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.378000	0.59568	1.080000	0.41073	0.478000	0.44815	CGG		0.682	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1	NM_006349		39	59	0	0	0	1	0	39	59					T	100865908	C	T	100865908	3	4	124	1	0	0	0	0	1	0	0	0	18203	759	27	1	52	1	ZNHIT1	7	100865908	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	180493	100865908	58272755	9	2240										
TAS2R3	50831	broad.mit.edu	37	chr7	141464342	141464342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	ctcaagtggagagtttctagGgtgatggtatggatgctgtt	15	4	2	2			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:141464342G>A	ENST00000247879.2	+	1	446	c.384G>A	c.(382-384)agG>agA	p.R128R	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	128					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAGTTTCTAGGGTGATGGTAT	0.483																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(382-384)agG>agA		taste receptor, type 2, member 3							225	202	210					7																	141464342		2203	4300	6503	SO:0001819	synonymous_variant	50831				sensory perception of taste		taste receptor activity	g.chr7:141464342G>A	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.384G>A	7.37:g.141464342G>A						SSBP1_ENST00000465582.1_Intron	p.R128R	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN			1	446	+	Melanoma(164;0.0171)		128					A4D1U2|Q645W2|Q75MV6	Silent	SNP	ENST00000247879.2	37	c.384G>A	CCDS5867.1																																																																																				0.483	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			34	86	0	0	0	1	0	34	86					A	141464342	G	A	141464342	2	1	124	1	0	0	0	0	0	0	0	1	15569	1223	43	3		3	TAS2R3	7	141464342	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	40598434	141464342	17674321	10	2241										
ZNF777	27153	broad.mit.edu	37	chr7	149152905	149152905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	tctggagcacatgtggcatcCggccagaagtctcttgcttg	12	11	2	1			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:149152905C>T	ENST00000247930.4	-	2	532	c.209G>A	c.(208-210)cGg>cAg	p.R70Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	70			R -> W (in dbSNP:rs3735318).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ATGTGGCATCCGGCCAGAAGT	0.577																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(208-210)cGg>cAg		zinc finger protein 777							81	89	87					7																	149152905		1901	4124	6025	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152905C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"Zinc fingers, C2H2-type", "-"	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.209G>A	7.37:g.149152905C>T	ENSP00000247930:p.Arg70Gln						p.R70Q	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	532	-	Melanoma(164;0.165)		70		R -> W (in dbSNP:rs3735318).			Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.209G>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699987	0.30142	.	.	ENSG00000196453	ENST00000247930	T	0.05513	3.43	4.66	3.56	0.40772	.	0.386982	0.19111	N	0.122454	T	0.03783	0.0107	N	0.14661	0.345	0.20196	N	0.999928	B	0.06786	0.001	B	0.04013	0.001	T	0.41395	-0.9511	10	0.33940	T	0.23	-5.1325	6.4528	0.21914	0.0:0.8167:0.0:0.1833	.	70	Q9ULD5-2	.	Q	70	ENSP00000247930:R70Q	ENSP00000247930:R70Q	R	-	2	0	ZNF777	148783838	0.503000	0.26115	0.993000	0.49108	0.890000	0.51754	0.571000	0.23669	0.678000	0.31325	0.462000	0.41574	CGG		0.577	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		36	54	0	0	0	1	0	36	54					T	149152905	C	T	149152905	3	4	124	1	0	0	0	0	1	0	0	0	18147	652	23	2	2306	2	ZNF777	7	149152905	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	7688563	149152905	9985758	11	2242										
MPDZ	8777	broad.mit.edu	37	chr9	13190215	13190215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	aaaggtgcttgaacctcttcTgtactctgacccgcatcagt	8	12	4	2			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:13190215T>C	ENST00000319217.7	-	16	2299	c.2052A>G	c.(2050-2052)acA>acG	p.T684T	MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	684					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAACCTCTTCTGTACTCTGAC	0.488																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2050-2052)acA>acG		multiple PDZ domain protein							79	75	76					9																	13190215		2072	4217	6289	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13190215T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2052A>G	9.37:g.13190215T>C						MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T	p.T684T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	16	2299	-			684					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.2052A>G																																																																																					0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		17	12	0	0	0	1	0	17	12					C	13190215	T	C	13190215	2	2	124	1	0	0	0	0	0	0	0	1	9722	1567	55	4		4	MPDZ	9	13190215	Silent	SNP	T	TCGA-SR-A6MX-01A-11D-A35I-08		13190215	128023216	12	2243										
HRCT1	646962	broad.mit.edu	37	chr9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA													0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	cgccacacccctcaccacctINSccaccaccaccaccaccccc					rs112821450|rs143611048|rs79156963	byFrequency	TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-303)ctccac>ctCCACCAccac	p.105_106insHH	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral component of membrane (GO:0016021)		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.L100H(1)	NS(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(298-300)cca>cCCACCAca		histidine rich carboxyl terminus 1																																				SO:0001652	inframe_insertion	646962					integral to membrane		g.chr9:35906583_35906584insCCACCA		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.306_311dupCCACCA	9.37:g.35906584_35906589dupCCACCA	ENSP00000346283:p.His104_His105dup						p.100_101insTT	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	395_396	+			100			His-rich.		B7ZBJ1	In_Frame_Ins	INS	ENST00000354323.2	37	c.299_300insCCACCA	CCDS35012.1																																																																																				0.668	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		2	4						2	4	---	---	---	---	CCACCA	35906584	-	CCACCA	35906583	7	5	124	1	0	1	1	0	0	0	0	0	7353	1551	54	0	301	0	HRCT1	9	35906583	In_Frame_Ins	INS	-	TCGA-SR-A6MX-01A-11D-A35I-08	22716368	35906583	105306848	13	2244										
DNTT	1791	broad.mit.edu	37	chr10	98097935	98097935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	aagtgaagaagaaatttttgCgcatctgggattggattata	11	3	1	3			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr10:98097935C>T	ENST00000371174.2	+	11	1586	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DNTT_ENST00000419175.1_Missense_Mutation_p.A494V			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	495	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATTTTTGCGCATCTGGGA	0.333																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1480-1482)gCg>gTg		DNA nucleotidylexotransferase							119	118	119					10																	98097935		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98097935C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1484C>T	10.37:g.98097935C>T	ENSP00000360216:p.Ala495Val					DNTT_ENST00000371174.2_Missense_Mutation_p.A495V	p.A494V	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	11	1651	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	495			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1481C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821842	0.50633	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	DNA-directed DNA polymerase X (1);	0.146062	0.47093	D	0.000248	T	0.43612	0.1255	M	0.85197	2.74	0.38160	D	0.938996	P;P	0.48640	0.913;0.859	B;B	0.28784	0.094;0.043	T	0.57154	-0.7860	10	0.30854	T	0.27	-0.4285	11.9763	0.53094	0.1731:0.8269:0.0:0.0	.	494;495	P04053-2;P04053	.;TDT_HUMAN	V	494;495	ENSP00000401169:A494V;ENSP00000360216:A495V	ENSP00000360216:A495V	A	+	2	0	DNTT	98087925	0.997000	0.39634	1.000000	0.80357	0.946000	0.59487	2.398000	0.44486	2.679000	0.91253	0.655000	0.94253	GCG		0.333	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		3	50	0	0	0	1	0	3	50					T	98097935	C	T	98097935	3	4	124	1	0	0	0	0	1	0	0	0	4680	768	27	1	1526	1	DNTT	10	98097935	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		98097935	37436812	14	2245										
TRHDE	29953	broad.mit.edu	37	chr12	73046874	73046874	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	ataatccatgtagctcgaaaTccacatggtcgagaccttgc	8	11	0	1			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:73046874T>A	ENST00000261180.4	+	17	2883	c.2787T>A	c.(2785-2787)aaT>aaA	p.N929K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	929					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGCTCGAAATCCACATGGTC	0.353																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2785-2787)aaT>aaA		thyrotropin-releasing hormone degrading enzyme							86	83	84					12																	73046874		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046874T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2787T>A	12.37:g.73046874T>A	ENSP00000261180:p.Asn929Lys						p.N929K	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			17	2883	+			929					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2787T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261817	0.80358	.	.	ENSG00000072657	ENST00000261180	T	0.06849	3.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04029	-1.0983	10	0.54805	T	0.06	.	9.9807	0.41811	0.0:0.0755:0.0:0.9245	.	929	Q9UKU6	TRHDE_HUMAN	K	929	ENSP00000261180:N929K	ENSP00000261180:N929K	N	+	3	2	TRHDE	71333141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.765000	0.55272	2.087000	0.62958	0.533000	0.62120	AAT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		25	25	0	0	0	1	0	25	25					A	73046874	T	A	73046874	3	1	124	1	0	0	0	0	1	0	0	0	16476	1432	50	5	2853	5	TRHDE	12	73046874	Missense_Mutation	SNP	T	TCGA-SR-A6MX-01A-11D-A35I-08		73046874	60805021	15	2246										
MPHOSPH9	10198	broad.mit.edu	37	chr12	123706152	123706152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	tccatgaactccttagggtcTttagatttgtacagatttaa	7	7	1	3			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:123706152T>C	ENST00000606320.1	-	5	845	c.639A>G	c.(637-639)aaA>aaG	p.K213K	MPHOSPH9_ENST00000539639.1_5'Flank|MPHOSPH9_ENST00000302349.5_Silent_p.K61K|MPHOSPH9_ENST00000392425.3_Silent_p.K61K|MPHOSPH9_ENST00000541076.2_Silent_p.K183K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	213						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCTTAGGGTCTTTAGATTTGT	0.438																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(637-639)aaA>aaG		M-phase phosphoprotein 9							116	116	116					12																	123706152		2203	4300	6503	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123706152T>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.639A>G	12.37:g.123706152T>C						MPHOSPH9_ENST00000541076.2_Silent_p.K183K|MPHOSPH9_ENST00000302349.5_Silent_p.K61K|MPHOSPH9_ENST00000392425.3_Silent_p.K61K	p.K213K			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	845	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		61					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.639A>G		.	.	.	.	.	.	.	.	.	.	T	0.117	-1.131127	0.01756	.	.	ENSG00000257076	ENST00000539336	.	.	.	5.1	-1.29	0.09288	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-12.0772	5.3311	0.15932	0.2291:0.4478:0.0:0.3231	.	.	.	.	G	71	.	.	R	-	1	2	RP11-546D6.2	122272105	0.001000	0.12720	0.006000	0.13384	0.099000	0.18886	-0.169000	0.09911	-0.499000	0.06623	-0.952000	0.02654	AGA		0.438	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			38	59	0	0	0	1	0	38	59					C	123706152	T	C	123706152	2	2	124	1	0	0	0	0	0	0	0	1	9728	1606	56	4		4	MPHOSPH9	12	123706152	Silent	SNP	T	TCGA-SR-A6MX-01A-11D-A35I-08	50659278	123706152	10145743	16	2247										
TGDS	23483	broad.mit.edu	37	chr13	95235377	95235377	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	actgccaccatatacttcatCtgtgctgacataaataaact	4	11	2	1			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:95235377C>T	ENST00000261296.5	-	5	547	c.427G>A	c.(427-429)Gat>Aat	p.D143N	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	143					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TATACTTCATCTGTGCTGACA	0.373																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(427-429)Gat>Aat		TDP-glucose 4,6-dehydratase							150	139	142					13																	95235377		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95235377C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.427G>A	13.37:g.95235377C>T	ENSP00000261296:p.Asp143Asn					TGDS_ENST00000498294.1_5'UTR	p.D143N	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			5	547	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		143					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.427G>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127495	0.94473	.	.	ENSG00000088451	ENST00000261296	D	0.93659	-3.26	5.76	5.76	0.90799	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.107609	0.64402	D	0.000007	D	0.98128	0.9382	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98623	1.0668	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	143	O95455	TGDS_HUMAN	N	143	ENSP00000261296:D143N	ENSP00000261296:D143N	D	-	1	0	TGDS	94033378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.947000	0.70242	2.882000	0.98803	0.655000	0.94253	GAT		0.373	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		24	45	0	0	0	1	0	24	45					T	95235377	C	T	95235377	3	4	124	1	0	0	0	0	1	0	0	0	15811	913	32	3	657	3	TGDS	13	95235377	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		95235377	19934501	17	2248										
BATF	10538	broad.mit.edu	37	chr14	76012949	76012949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	ccagcacgccctcgccccccGaggtggtgtacagcgcccac	11	20	0	0			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:76012949G>A	ENST00000286639.6	+	3	571	c.313G>A	c.(313-315)Gag>Aag	p.E105K	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	105					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CTCGCCCCCCGAGGTGGTGTA	0.657																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(313-315)Gag>Aag		basic leucine zipper transcription factor, ATF-like							37	28	31					14																	76012949		2200	4300	6500	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012949G>A	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.313G>A	14.37:g.76012949G>A	ENSP00000286639:p.Glu105Lys					BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	p.E105K	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	571	+			105						Missense_Mutation	SNP	ENST00000286639.6	37	c.313G>A	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650912	0.67472	.	.	ENSG00000156127	ENST00000286639	T	0.78481	-1.18	5.33	5.33	0.75918	.	0.153676	0.56097	D	0.000025	T	0.64114	0.2569	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	B	0.39419	0.299	T	0.64141	-0.6477	10	0.11485	T	0.65	-1.5992	17.2289	0.86979	0.0:0.0:1.0:0.0	.	105	Q16520	BATF_HUMAN	K	105	ENSP00000286639:E105K	ENSP00000286639:E105K	E	+	1	0	BATF	75082702	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	8.127000	0.89593	2.495000	0.84180	0.655000	0.94253	GAG		0.657	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		8	16	0	0	0	1	0	8	16					A	76012949	G	A	76012949	3	1	124	1	0	0	0	0	1	0	0	0	1325	1059	37	2	323	2	BATF	14	76012949	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		76012949	31336591	18	2249										
BCL11B	64919	broad.mit.edu	37	chr14	99737529	99737529	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	tccctctgggacaagtgctgCgggttgccctgtttgcggcg	15	12	1	0			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:99737529C>G	ENST00000357195.3	-	1	36	c.27G>C	c.(25-27)ccG>ccC	p.P9P	BCL11B_ENST00000443726.2_Silent_p.P9P|BCL11B_ENST00000345514.2_Silent_p.P9P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	9					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACAAGTGCTGCGGGTTGCCCT	0.701			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(25-27)ccG>ccC		B-cell CLL/lymphoma 11B (zinc finger protein)							21	20	20					14																	99737529		2203	4298	6501	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99737529C>G	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.27G>C	14.37:g.99737529C>G						BCL11B_ENST00000357195.3_Silent_p.P9P|BCL11B_ENST00000443726.2_Silent_p.P9P	p.P9P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	1	293	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	0					Q9H162	Silent	SNP	ENST00000357195.3	37	c.27G>C	CCDS9950.1																																																																																				0.701	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	10	0	0	0	1	0	5	10					G	99737529	C	G	99737529	2	3	124	1	0	0	0	0	0	0	0	1	1364	755	27	5		5	BCL11B	14	99737529	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	23724580	99737529	7612011	19	2250										
CORO7	79585	broad.mit.edu	37	chr16	4408410	4408410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	gccacaggctccagggaggaCtgacgcagccgcaggcaccg	15	15	0	1			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:4408410C>T	ENST00000251166.4	-	24	2560	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q	PAM16_ENST00000576217.1_5'Flank|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	805					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGGGAGGACTGACGCAGCC	0.697																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2413-2415)caG>caA		coronin 7							29	30	30					16																	4408410		2196	4295	6491	SO:0001819	synonymous_variant	79585							g.chr16:4408410C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2415G>A	16.37:g.4408410C>T						CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7-PAM16_ENST00000572274.1_5'UTR	p.Q805Q	NM_024535.4	NP_078811.3					24	2560	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2415G>A	CCDS10513.1																																																																																				0.697	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		9	15	0	0	0	1	0	9	15					T	4408410	C	T	4408410	2	4	124	1	0	0	0	0	0	0	0	1	3759	564	20	3		3	CORO7	16	4408410	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		4408410	85946343	20	2251										
DNAH9	1770	broad.mit.edu	37	chr17	11543597	11543597	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	atgtctccagggttctccccGgtgcacaagaacatgcccac	9	15	2	1	rs201962543		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:11543597G>A	ENST00000262442.4	+	10	1865	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	DNAH9_ENST00000454412.2_Silent_p.P599P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	599	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGTTCTCCCCGGTGCACAAGA	0.597													G|||	1	0.000199681	0	0	5008	,	,		18464	0.001		0	False		,,,				2504	0					ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1795-1797)ccG>ccA		dynein, axonemal, heavy chain 9		G		1,4405	2.1+/-5.4	0,1,2202	131	124	127		1797	-10.8	0	17		127	0,8600		0,0,4300	no	coding-synonymous	DNAH9	NM_001372.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		599/4487	11543597	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11543597G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1797G>A	17.37:g.11543597G>A						DNAH9_ENST00000454412.2_Silent_p.P599P	p.P599P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	10	1865	+		Breast(5;0.0122)|all_epithelial(5;0.131)	599			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1797G>A	CCDS11160.1																																																																																				0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	123	0	0	0	1	0	13	123					A	11543597	G	A	11543597	2	1	124	1	0	0	0	0	0	0	0	1	4608	1103	39	2		2	DNAH9	17	11543597	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		11543597	69651613	21	2252										
GAA	2548	broad.mit.edu	37	chr17	78083827	78083827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	aggggggttttcatcaccaaCgagaccggccagccgctgat	13	12	2	2			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:78083827C>T	ENST00000302262.3	+	9	1629	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N	GAA_ENST00000390015.3_Silent_p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	470					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TCATCACCAACGAGACCGGCC	0.667																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1408-1410)aaC>aaT		glucosidase, alpha; acid	Acarbose(DB00284)						31	37	35					17																	78083827		2200	4300	6500	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78083827C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1410C>T	17.37:g.78083827C>T						GAA_ENST00000390015.3_Silent_p.N470N	p.N470N	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		9	1629	+	all_neural(118;0.117)		470					Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1410C>T	CCDS32760.1																																																																																				0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			18	42	0	0	0	1	0	18	42					T	78083827	C	T	78083827	2	4	124	1	0	0	0	0	0	0	0	1	6147	535	19	1		1	GAA	17	78083827	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	66540230	78083827	3111383	22	2253										
CHERP	84167	broad.mit.edu	37	chr19	16632349	16632349	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	tacctgttcctgggcctgtcGtgggacggggggctgtagaa	17	9	0	1			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:16632349G>A	ENST00000221671.3	+	0	3427				CHERP_ENST00000198939.6_Silent_p.H710H|CHERP_ENST00000546361.2_Silent_p.H699H|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.H699Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGGGCCTGTCGTGGGACGGGG	0.672																																						ENST00000546361.2																			1	Substitution - Missense(1)	p.H699Q(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2095-2097)caC>caT		calcium homeostasis endoplasmic reticulum protein							15	18	17					19																	16632349		1886	4103	5989	SO:0001628	intergenic_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16632349G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16632349G>A						CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.H710H|CHERP_ENST00000544299.1_5'UTR	p.H699H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			12	2248	-			699					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.2097C>T	CCDS12345.1																																																																																				0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		7	4	0	0	0	1	0	7	4					A	16632349	G	A	16632349	1	1	124	0	1	0	0	0	0	0	0	0	3336	1136	40	1		1	CHERP	19	16632349	IGR	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08		16632349	42496634	23	2254										
CIC	23152	broad.mit.edu	37	chr19	42791285	42791285	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	ggacccccacaccctttgggGgtggtggaatctggtaaggg	16	10	1	0			TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:42791285G>T	ENST00000575354.2	+	3	385	c.345G>T	c.(343-345)ggG>ggT	p.G115G	CIC_ENST00000160740.3_Silent_p.G115G|CIC_ENST00000572681.2_Silent_p.G1024G	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	115	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCTTTGGGGGTGGTGGAAT	0.682			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3070-3072)ggG>ggT		capicua transcriptional repressor							20	28	25					19																	42791285		2191	4292	6483	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791285G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.345G>T	19.37:g.42791285G>T						CIC_ENST00000575354.2_Silent_p.G115G|CIC_ENST00000160740.3_Silent_p.G115G	p.G1024G			Q96RK0	CIC_HUMAN			4	3140	+		Prostate(69;0.00682)	115			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.3072G>T	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	54	1	0	2.56e-06	1	2.56e-06	4	54					T	42791285	G	T	42791285	2	4	124	1	0	0	0	0	0	0	0	1	3424	1219	43	5		5	CIC	19	42791285	Silent	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	26158936	42791285	16337698	24	2255										
NLRP12	91662	broad.mit.edu	37	chr19	54314500	54314500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	cattgcggtcttccatgagcCggaatttcctgcggacatag	11	11	1	1	rs534882841		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:54314500C>T	ENST00000324134.6	-	3	581	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	NLRP12_ENST00000391775.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCATGAGCCGGAATTTCCT	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		16501	0		0	False		,,,				2504	0					ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(412-414)cGg>cAg		NLR family, pyrin domain containing 12							89	87	87					19																	54314500		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314500C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.413G>A	19.37:g.54314500C>T	ENSP00000319377:p.Arg138Gln					NLRP12_ENST00000391772.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391773.1_Missense_Mutation_p.R138Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R138Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R138Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R138Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R138Q	p.R138Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	581	-	Ovarian(34;0.19)		138					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.413G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741215	0.15642	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	4.47	-0.42	0.12336	.	0.192676	0.25601	N	0.029547	T	0.66963	0.2843	N	0.25890	0.77	0.50313	D	0.999864	P;B;B;B	0.35050	0.482;0.246;0.246;0.293	B;B;B;B	0.18871	0.023;0.013;0.013;0.017	T	0.56956	-0.7893	10	0.10636	T	0.68	.	3.9174	0.09228	0.158:0.4792:0.0:0.3627	.	138;138;138;138	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Q	138	ENSP00000319377:R138Q;ENSP00000438030:R138Q;ENSP00000340473:R138Q;ENSP00000346231:R138Q;ENSP00000375655:R138Q;ENSP00000375653:R138Q;ENSP00000375652:R138Q	ENSP00000319377:R138Q	R	-	2	0	NLRP12	59006312	0.000000	0.05858	0.844000	0.33320	0.862000	0.49288	-0.171000	0.09883	-0.134000	0.11516	0.306000	0.20318	CGG		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		12	127	0	0	0	1	0	12	127					T	54314500	C	T	54314500	3	4	124	1	0	0	0	0	1	0	0	0	10474	652	23	2	2900	2	NLRP12	19	54314500	Missense_Mutation	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08	11523215	54314500	4814483	25	2256										
PAX1	5075	broad.mit.edu	37	chr20	21689898	21689898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	gccgtgggcggctttctcccCgcctgcgcctacccggcctc	12	20	1	0	rs201381441		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:21689898C>T	ENST00000398485.2	+	4	1152	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	PAX1_ENST00000444366.2_Silent_p.P342P|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	366					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCTTTCTCCCCGCCTGCGCCT	0.711													C|||	1	0.000199681	0	0	5008	,	,		11972	0		0.001	False		,,,				2504	0					ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1096-1098)ccC>ccT		paired box 1							54	67	63					20																	21689898		2195	4284	6479	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689898C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1098C>T	20.37:g.21689898C>T						PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P	p.P366P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1152	+			366					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.1098C>T	CCDS13146.2																																																																																				0.711	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			44	61	0	0	0	1	0	44	61					T	21689898	C	T	21689898	2	4	124	1	0	0	0	0	0	0	0	1	11478	639	23	2		2	PAX1	20	21689898	Silent	SNP	C	TCGA-SR-A6MX-01A-11D-A35I-08		21689898	41335622	26	2257										
TSHZ2	128553	broad.mit.edu	37	chr20	51871509	51871509	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	tatcaatacctaagggaggaAgacttggaagatggctcaaa	11	6	2	2	rs577689630		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr20:51871509A>G	ENST00000371497.5	+	2	2399	c.1512A>G	c.(1510-1512)gaA>gaG	p.E504E	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.E501E|TSHZ2_ENST00000603338.2_Silent_p.E501E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	504					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGGGAGGAAGACTTGGAAG	0.448													A|||	1	0.000199681	8e-04	0	5008	,	,		19754	0		0	False		,,,				2504	0					ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1510-1512)gaA>gaG		teashirt zinc finger homeobox 2							65	70	68					20																	51871509		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871509A>G	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1512A>G	20.37:g.51871509A>G						TSHZ2_ENST00000329613.6_Silent_p.E501E|TSHZ2_ENST00000603338.2_Silent_p.E501E	p.E504E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2399	+			504					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1512A>G	CCDS33490.1																																																																																				0.448	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		3	63	0	0	0	1	0	3	63					G	51871509	A	G	51871509	2	3	124	1	0	0	0	0	0	0	0	1	16621	69	3	4		4	TSHZ2	20	51871509	Silent	SNP	A	TCGA-SR-A6MX-01A-11D-A35I-08	30181611	51871509	11154011	27	2258										
ATRX	546	broad.mit.edu	37	chrX	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-													0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	ggggtaaattggtcccagttGgtatgttgaaacgcatggtc							TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)ccafs	p.P2292fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGTCCCAGTTGGTATGTTGAA	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6874-6876)cafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						86	81	83					X																	76777841		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76777841delG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6875delC	X.37:g.76777841delG	ENSP00000362441:p.Pro2292fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	p.P2292fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			32	7089	-			2292					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6875delC	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		59	29						59	29	---	---	---	---	-	76777841	G	-	76777841	7	5	124	1	0	1	0	1	0	0	0	0	1208	1348	47	0	619	0	ATRX	23	76777841	Frame_Shift_Del	DEL	G	TCGA-SR-A6MX-01A-11D-A35I-08		76777841	78492719	28	2259										
FHL1	2273	broad.mit.edu	37	chrX	135288722	135288722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0689655172413793	2	1	1.06140350877193	3.53801169590643	0.624355005159959	1	1	0	caacacctgtgtggaatgccGcaagcccatcggtgcggact	12	13	0	0	rs11557264		TCGA-SR-A6MX-01A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf63b35c-ccf9-45f2-a1e8-01e06caf5d57	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:135288722G>A	ENST00000345434.3	+	2	212	c.131G>A	c.(130-132)cGc>cAc	p.R44H	FHL1_ENST00000394155.2_Missense_Mutation_p.R44H|FHL1_ENST00000543669.1_Missense_Mutation_p.R44H|FHL1_ENST00000539015.1_Missense_Mutation_p.R73H|FHL1_ENST00000370676.3_Missense_Mutation_p.R60H|FHL1_ENST00000370690.3_Missense_Mutation_p.R44H|FHL1_ENST00000370683.1_Missense_Mutation_p.R60H|FHL1_ENST00000535737.1_Missense_Mutation_p.R44H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.R44H			Q13642	FHL1_HUMAN	four and a half LIM domains 1	44	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGGAATGCCGCAAGCCCATC	0.562																																						ENST00000543669.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(130-132)cGc>cAc		four and a half LIM domains 1							177	157	164					X																	135288722		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288722G>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.131G>A	X.37:g.135288722G>A	ENSP00000071281:p.Arg44His					FHL1_ENST00000535737.1_Missense_Mutation_p.R44H|FHL1_ENST00000539015.1_Missense_Mutation_p.R73H|FHL1_ENST00000370683.1_Missense_Mutation_p.R60H|FHL1_ENST00000345434.3_Missense_Mutation_p.R44H|FHL1_ENST00000370676.3_Missense_Mutation_p.R60H|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000394153.2_Missense_Mutation_p.R44H|FHL1_ENST00000394155.2_Missense_Mutation_p.R44H|FHL1_ENST00000370690.3_Missense_Mutation_p.R44H	p.R44H	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN			2	842	+	Acute lymphoblastic leukemia(192;0.000127)		44			LIM zinc-binding 1.		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.131G>A	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804089	0.50315	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.46	5.46	0.80206	Zinc finger, LIM-type (5);	0.051961	0.64402	D	0.000002	T	0.79857	0.4518	L	0.28458	0.855	0.39248	D	0.963978	B;B;B;B	0.25206	0.006;0.12;0.102;0.12	B;B;B;B	0.24541	0.013;0.054;0.047;0.054	T	0.76892	-0.2791	10	0.33141	T	0.24	.	12.0453	0.53477	0.0918:0.0:0.9082:0.0	.	73;60;60;44	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	H	44;44;24;44;44;44;44;44;44;44;44;84;44;44;73;60;60;60;44	ENSP00000377710:R44H;ENSP00000359724:R44H;ENSP00000391779:R44H;ENSP00000389920:R44H;ENSP00000444815:R44H;ENSP00000408038:R44H;ENSP00000413798:R44H;ENSP00000443333:R44H;ENSP00000377709:R44H;ENSP00000412642:R44H;ENSP00000414604:R44H;ENSP00000071281:R44H;ENSP00000437673:R73H;ENSP00000359717:R60H;ENSP00000359710:R60H;ENSP00000359708:R44H	ENSP00000071281:R44H	R	+	2	0	FHL1	135116388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.002000	0.40835	2.270000	0.75569	0.600000	0.82982	CGC		0.562	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		4	89	0	0	0	1	0	4	89					A	135288722	G	A	135288722	3	1	124	1	0	0	0	0	1	0	0	0	5878	1087	38	1	250	1	FHL1	23	135288722	Missense_Mutation	SNP	G	TCGA-SR-A6MX-01A-11D-A35I-08	58510881	135288722	19981838	29	2260										
PEX10	5192	broad.mit.edu	37	chr1	2340298	2340299	+	Splice_Site	INS	-	-	T													0	0	1	0	NA	0	1	1	0	tcccccagggtctggtagccINStgcgaggaagaggatgggta							TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr1:2340298_2340299insT	ENST00000447513.2	-	3	262		c.e3-1		PEX10_ENST00000288774.3_Splice_Site|PEX10_ENST00000507596.1_Splice_Site|PEX10_ENST00000515760.1_Splice_Site	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GTCTGGTAGCCTGCGAGGAAGA	0.663																																					GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.e3-1		peroxisomal biogenesis factor 10																																				SO:0001630	splice_region_variant	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2340298_2340299insT	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"RING-type (C3HC4) zinc fingers"	8851	protein-coding gene	gene with protein product		602859	"peroxisome biogenesis factor 10"			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.194-1->A	1.37:g.2340299_2340299dupT						PEX10_ENST00000515760.1_Splice_Site|PEX10_ENST00000507596.1_Splice_Site|PEX10_ENST00000447513.2_Splice_Site		NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	3	221	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)						B3KWD8|Q5T095|Q9BW90	Splice_Site	INS	ENST00000447513.2	37		CCDS44045.1																																																																																				0.663	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818	Intron	14	5						14	5	---	---	---	---	T	2340299	-	T	2340298	8	5	125	1	0	1	1	0	0	0	1	0	11736	695	24	0	863	0	PEX10	1	2340298	Splice_Site	INS	-	TCGA-SR-A6MY-01A-11D-A35I-08		2340298	246910323	1	2261										
PRELP	5549	broad.mit.edu	37	chr1	203453039	203453039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgccgcccagggtccccaccGccattcaccagctctacctg	8	20	2	0			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr1:203453039G>A	ENST00000343110.2	+	2	854	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	243					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTCCCCACCGCCATTCACCA	0.532																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(727-729)Gcc>Acc		proline/arginine-rich end leucine-rich repeat protein							152	149	150					1																	203453039		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203453039G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.727G>A	1.37:g.203453039G>A	ENSP00000343924:p.Ala243Thr						p.A243T	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	854	+			243					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.727G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461040	0.26248	.	.	ENSG00000188783	ENST00000343110	T	0.04317	3.65	4.77	3.84	0.44239	.	0.198980	0.43579	D	0.000560	T	0.02929	0.0087	N	0.20530	0.585	0.34548	D	0.710993	B	0.33883	0.43	B	0.24155	0.051	T	0.50189	-0.8857	10	0.29301	T	0.29	-8.4347	8.8921	0.35441	0.0:0.1638:0.6667:0.1695	.	243	P51888	PRELP_HUMAN	T	243	ENSP00000343924:A243T	ENSP00000343924:A243T	A	+	1	0	PRELP	201719662	0.157000	0.22836	0.640000	0.29408	0.677000	0.39632	2.884000	0.48562	0.982000	0.38575	0.462000	0.41574	GCC		0.532	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		45	111	0	0	0	1	0	45	111					A	203453039	G	A	203453039	3	1	125	1	0	0	0	0	1	0	0	0	12473	1087	38	1	729	1	PRELP	1	203453039	Missense_Mutation	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08	201112741	203453039	45797582	2	2262										
C3orf37	56941	broad.mit.edu	37	chr3	129007830	129007830	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgataccgtaatggagaaacGgtcatttaaggtaggtggct	13	5	1	2	rs114856369	byFrequency	TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr3:129007830G>T	ENST00000383463.4	+	3	406	c.317G>T	c.(316-318)cGg>cTg	p.R106L	HMCES_ENST00000502878.2_Missense_Mutation_p.R106L|HMCES_ENST00000389735.3_Missense_Mutation_p.R106L|HMCES_ENST00000417226.2_Missense_Mutation_p.R106L	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	106							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										ATGGAGAAACGGTCATTTAAG	0.468																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(316-318)cGg>cTg									113	100	104					3																	129007830		2203	4300	6503	SO:0001583	missense	56941							g.chr3:129007830G>T	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"SOS response associated peptidase domain containing 1"		"chromosome 3 open reading frame 37"	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.317G>T	3.37:g.129007830G>T	ENSP00000372955:p.Arg106Leu					C3orf37_ENST00000389735.3_Missense_Mutation_p.R106L|C3orf37_ENST00000417226.2_Missense_Mutation_p.R106L|C3orf37_ENST00000502878.2_Missense_Mutation_p.R106L	p.R106L	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			3	406	+			106					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.317G>T	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465485	0.26335	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.12	-1.66	0.08265	.	0.831999	0.11135	N	0.595916	T	0.47544	0.1451	M	0.91300	3.195	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.17722	0.019;0.005	T	0.48603	-0.9021	9	0.30078	T	0.28	-4.5797	1.813	0.03094	0.4401:0.1251:0.2957:0.139	.	106;106	E7EMP6;Q96FZ2	.;CC037_HUMAN	L	106	.	ENSP00000372955:R106L	R	+	2	0	C3orf37	130490520	0.230000	0.23740	0.000000	0.03702	0.743000	0.42351	0.188000	0.17018	-0.735000	0.04837	-0.229000	0.12294	CGG		0.468	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		3	46	1	0	0.115264	1	0.115264	3	46					T	129007830	G	T	129007830	3	4	125	1	0	0	0	0	1	0	0	0	2227	1116	39	5	323	5	C3orf37	3	129007830	Missense_Mutation	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08		129007830	69014600	3	2263										
FAM75C1	441452	broad.mit.edu	37	chr9	90535468	90535468	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacccgagccacctgcacttTtccctcacccaccacacacc	3	23	1	0			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr9:90535468T>C	ENST00000602681.1	+	0	1372							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCTGCACTTTTCCCTCACCC	0.612																																						ENST00000602681.1																			0																				65	62	63					9																	90535468		692	1591	2283			441452							g.chr9:90535468T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535468T>C														0	1372	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.612	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	298	0	0	0	1	0	5	298					C	90535468	T	C	90535468	1	2	125	0	1	0	0	0	0	0	0	0	5623	1841	64	4		4	FAM75C1	9	90535468	RNA	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		90535468	50677963	4	2264										
GOT1	2805	broad.mit.edu	37	chr10	101157431	101157431	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcttttcattgaccagatacTcaacctgcttggctgttgaa	8	10	2	3			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr10:101157431T>C	ENST00000370508.5	-	9	1142	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	GOT1_ENST00000543866.1_Missense_Mutation_p.E351G	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	372					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GACCAGATACTCAACCTGCTT	0.443																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(1114-1116)gAg>gGg		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						149	129	135					10																	101157431		2203	4300	6503	SO:0001583	missense	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101157431T>C	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1115A>G	10.37:g.101157431T>C	ENSP00000359539:p.Glu372Gly					GOT1_ENST00000543866.1_Missense_Mutation_p.E351G	p.E372G	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	9	1142	-		Ovarian(717;0.028)|Colorectal(252;0.234)	372					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.1115A>G	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406181	0.25378	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.97378	-4.36;-4.36	4.86	3.7	0.42460	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.100757	0.64402	D	0.000003	D	0.95153	0.8429	M	0.72576	2.205	0.47621	D	0.999477	B	0.13594	0.008	B	0.14578	0.011	D	0.92209	0.5774	10	0.54805	T	0.06	-17.6682	7.9278	0.29885	0.1358:0.0:0.142:0.7222	.	372	P17174	AATC_HUMAN	G	372;325;351	ENSP00000359539:E372G;ENSP00000445578:E351G	ENSP00000359539:E372G	E	-	2	0	GOT1	101147421	1.000000	0.71417	0.935000	0.37517	0.185000	0.23345	4.811000	0.62606	0.960000	0.38005	-0.316000	0.08728	GAG		0.443	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		4	52	0	0	0	1	0	4	52					C	101157431	T	C	101157431	3	2	125	1	0	0	0	0	1	0	0	0	6579	1551	54	4	130	4	GOT1	10	101157431	Missense_Mutation	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		101157431	34377316	5	2265										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		40	49	0	0	0	1	0	40	49					C	533874	T	C	533874	3	2	125	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		533874	134472642	6	2266										
EPS8L2	64787	broad.mit.edu	37	chr11	721659	721659	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcagctgaaccagcggaaaaAggggaagaagaagggcaaga	16	6	0	4			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr11:721659A>G	ENST00000533256.1	+	11	1238	c.863A>G	c.(862-864)aAg>aGg	p.K288R	EPS8L2_ENST00000526198.1_Missense_Mutation_p.K304R|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.K288R|EPS8L2_ENST00000318562.8_Missense_Mutation_p.K288R			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	288					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCGGAAAAAGGGGAAGAAG	0.657																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(862-864)aAg>aGg		EPS8-like 2							35	45	42					11																	721659		2197	4289	6486	SO:0001583	missense	64787					cytoplasm		g.chr11:721659A>G	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.863A>G	11.37:g.721659A>G	ENSP00000435585:p.Lys288Arg					EPS8L2_ENST00000526198.1_Missense_Mutation_p.K304R|EPS8L2_ENST00000530636.1_Missense_Mutation_p.K288R|EPS8L2_ENST00000318562.8_Missense_Mutation_p.K288R|AP006621.9_ENST00000527021.2_RNA	p.K288R			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1238	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	288					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.863A>G	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	a	16.52	3.145185	0.57044	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.71	3.71	0.42584	.	0.154275	0.41294	D	0.000901	T	0.36524	0.0970	L	0.38175	1.15	0.42529	D	0.993032	B;P;B	0.37015	0.386;0.578;0.18	B;B;B	0.39258	0.075;0.295;0.044	T	0.10941	-1.0608	10	0.14656	T	0.56	-8.5646	11.8298	0.52288	1.0:0.0:0.0:0.0	.	304;332;288	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	R	288;288;288;304	ENSP00000320828:K288R;ENSP00000435585:K288R;ENSP00000436035:K288R;ENSP00000436230:K304R	ENSP00000320828:K288R	K	+	2	0	EPS8L2	711659	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	3.717000	0.54911	1.700000	0.51204	0.524000	0.50904	AAG		0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		3	39	0	0	0	1	0	3	39					G	721659	A	G	721659	3	3	125	1	0	0	0	0	1	0	0	0	5196	72	3	4	897	4	EPS8L2	11	721659	Missense_Mutation	SNP	A	TCGA-SR-A6MY-01A-11D-A35I-08	187785	721659	134284857	7	2267										
CHRM4	1132	broad.mit.edu	37	chr11	46408059	46408059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggatgatgacgtgaccaggcGcacggactgattgcccgagc	15	11	0	4	rs201094203		TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr11:46408059G>A	ENST00000433765.2	-	1	48	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	17					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGACCAGGCGCACGGACTGA	0.577																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(49-51)Cgc>Tgc		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						96	98	98					11																	46408059		2139	4236	6375	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46408059G>A	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.49C>T	11.37:g.46408059G>A	ENSP00000409378:p.Arg17Cys						p.R17C	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	48	-			17					B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.49C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844857	0.32606	.	.	ENSG00000180720	ENST00000433765	T	0.59364	0.27	5.18	5.18	0.71444	.	.	.	.	.	T	0.29093	0.0723	N	0.08118	0	0.36007	D	0.837771	P	0.43431	0.807	B	0.20955	0.032	T	0.47686	-0.9098	9	0.56958	D	0.05	.	11.1544	0.48478	0.0:0.0:0.8164:0.1836	.	17	P08173	ACM4_HUMAN	C	17	ENSP00000409378:R17C	ENSP00000409378:R17C	R	-	1	0	CHRM4	46364635	0.005000	0.15991	1.000000	0.80357	0.924000	0.55760	1.504000	0.35726	2.700000	0.92200	0.462000	0.41574	CGC		0.577	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		4	127	0	0	0	1	0	4	127					A	46408059	G	A	46408059	3	1	125	1	0	0	0	0	1	0	0	0	3379	1087	38	1	1394	1	CHRM4	11	46408059	Missense_Mutation	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08	45686400	46408059	88598457	8	2268										
PCDH9	5101	broad.mit.edu	37	chr13	67802021	67802021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccagtccaaaaacactctgCccatttaacaattcataatg	3	12	2	0			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr13:67802021C>T	ENST00000377865.2	-	1	686	c.552G>A	c.(550-552)ggG>ggA	p.G184G	PCDH9_ENST00000456367.1_Silent_p.G184G|PCDH9_ENST00000377861.3_Silent_p.G184G|PCDH9_ENST00000328454.5_Silent_p.G184G|PCDH9_ENST00000544246.1_Silent_p.G184G			Q9HC56	PCDH9_HUMAN	protocadherin 9	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAACACTCTGCCCATTTAACA	0.428																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(550-552)ggG>ggA		protocadherin 9							125	127	126					13																	67802021		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802021C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.552G>A	13.37:g.67802021C>T						PCDH9_ENST00000377865.2_Silent_p.G184G|PCDH9_ENST00000377861.3_Silent_p.G184G|PCDH9_ENST00000328454.5_Silent_p.G184G|PCDH9_ENST00000456367.1_Silent_p.G184G	p.G184G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1243	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	184			Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.552G>A	CCDS9444.1																																																																																				0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		4	169	0	0	0	1	0	4	169					T	67802021	C	T	67802021	2	4	125	1	0	0	0	0	0	0	0	1	11518	726	26	3		3	PCDH9	13	67802021	Silent	SNP	C	TCGA-SR-A6MY-01A-11D-A35I-08		67802021	47367857	9	2269										
ACIN1	22985	broad.mit.edu	37	chr14	23531643	23531643	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accgttacaaagcaatgagaTttgatcttgtcaatccagaa	7	8	2	3			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr14:23531643T>C	ENST00000262710.1	-	15	3474	c.3147A>G	c.(3145-3147)aaA>aaG	p.K1049K	ACIN1_ENST00000555053.1_Silent_p.K1036K|ACIN1_ENST00000397341.3_Silent_p.K291K|ACIN1_ENST00000338631.6_Silent_p.K322K|ACIN1_ENST00000457657.1_Silent_p.K1009K|ACIN1_ENST00000605057.1_Silent_p.K991K|ACIN1_ENST00000357481.2_Silent_p.K291K|ACIN1_ENST00000557515.1_Silent_p.K290K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1049					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGCAATGAGATTTGATCTTGT	0.478																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3145-3147)aaA>aaG		apoptotic chromatin condensation inducer 1							245	244	244					14																	23531643		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531643T>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3147A>G	14.37:g.23531643T>C						ACIN1_ENST00000397341.3_Silent_p.K291K|ACIN1_ENST00000557515.1_Silent_p.K290K|ACIN1_ENST00000357481.2_Silent_p.K291K|ACIN1_ENST00000338631.6_Silent_p.K322K|ACIN1_ENST00000555053.1_Silent_p.K1036K|ACIN1_ENST00000457657.1_Silent_p.K1009K|ACIN1_ENST00000605057.1_Silent_p.K991K	p.K1049K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	15	3474	-	all_cancers(95;1.36e-05)		1049					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.3147A>G	CCDS9587.1																																																																																				0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		91	148	0	0	0	1	0	91	148					C	23531643	T	C	23531643	2	2	125	1	0	0	0	0	0	0	0	1	142	1490	52	4		4	ACIN1	14	23531643	Silent	SNP	T	TCGA-SR-A6MY-01A-11D-A35I-08		23531643	83817897	10	2270										
GPRC5B	51704	broad.mit.edu	37	chr16	19873270	19873270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtctttttcccaagctgccGttgggaaatcctgctgttcg	11	11	1	0	rs146737474	byFrequency	TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr16:19873270G>A	ENST00000300571.2	-	3	1247	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	GPRC5B_ENST00000569847.1_Silent_p.N352N|GPRC5B_ENST00000535671.1_Silent_p.N352N|GPRC5B_ENST00000537135.1_Silent_p.N378N|GPRC5B_ENST00000569479.1_Silent_p.N352N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	352					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCAAGCTGCCGTTGGGAAATC	0.517																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1054-1056)aaC>aaT		G protein-coupled receptor, family C, group 5, member B		G		0,4394		0,0,2197	59	54	56		1056	-4.1	1	16	dbSNP_134	56	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	GPRC5B	NM_016235.1		0,9,6488	AA,AG,GG		0.1047,0.0,0.0693		352/404	19873270	9,12985	2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19873270G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1056C>T	16.37:g.19873270G>A						GPRC5B_ENST00000569847.1_Silent_p.N352N|GPRC5B_ENST00000569479.1_Silent_p.N352N|GPRC5B_ENST00000535671.1_Silent_p.N352N|GPRC5B_ENST00000537135.1_Silent_p.N378N	p.N352N	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			3	1247	-			352					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.1056C>T	CCDS10581.1																																																																																				0.517	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			4	64	0	0	0	1	0	4	64					A	19873270	G	A	19873270	2	1	125	1	0	0	0	0	0	0	0	1	6725	1136	40	1		1	GPRC5B	16	19873270	Silent	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08		19873270	70481483	11	2271										
GLTSCR2	29997	broad.mit.edu	37	chr19	48255821	48255821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcacccgccgtggaggtggCgcctgccggagcttcctaca	15	15	0	0	rs202204556		TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chr19:48255821C>T	ENST00000246802.5	+	6	760	c.722C>T	c.(721-723)gCg>gTg	p.A241V	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GTGGAGGTGGCGCCTGCCGGA	0.667																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(721-723)gCg>gTg		glioma tumor suppressor candidate region gene 2							73	64	67					19																	48255821		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48255821C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.722C>T	19.37:g.48255821C>T	ENSP00000246802:p.Ala241Val					GLTSCR2_ENST00000598681.1_3'UTR	p.A241V	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	6	760	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	241					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.722C>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.517945	0.00975	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.41758	0.99	4.08	-3.36	0.04913	.	0.458427	0.23226	N	0.050514	T	0.15305	0.0369	N	0.10972	0.075	0.22903	N	0.998589	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.002;0.003	T	0.35425	-0.9789	10	0.02654	T	1	-4.266	9.0757	0.36519	0.0:0.3009:0.0:0.6991	.	241;241;239	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	V	241	ENSP00000246802:A241V	ENSP00000246802:A241V	A	+	2	0	GLTSCR2	52947633	0.044000	0.20184	0.165000	0.22776	0.073000	0.16967	0.174000	0.16743	-0.358000	0.08162	-0.448000	0.05591	GCG		0.667	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		3	47	0	0	0	1	0	3	47					T	48255821	C	T	48255821	3	4	125	1	0	0	0	0	1	0	0	0	6475	768	27	1	744	1	GLTSCR2	19	48255821	Missense_Mutation	SNP	C	TCGA-SR-A6MY-01A-11D-A35I-08		48255821	10873162	12	2272										
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	438	0	0	0	1	0	6	438					A	140994960	G	A	140994960	2	1	125	1	0	0	0	0	0	0	0	1	9180	1364	48	3		3	MAGEC1	23	140994960	Silent	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08		140994960	14275600	13	2273										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-SR-A6MY-01A-11D-A35I-08	TCGA-SR-A6MY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eef7f6e-b52f-45d4-9482-4b3f926d8bbb	fa3d968f-2b1c-4658-b96b-36ee5a79b860	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	122	0	0	0	1	0	4	122					A	150156360	G	A	150156360	2	1	125	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-SR-A6MY-01A-11D-A35I-08	9161400	150156360	5114200	14	2274										
DDI2	84301	broad.mit.edu	37	chr1	15956918	15956918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagtcccactcatctcctGgagaaataacttcatctcct	5	14	4	1			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr1:15956918G>A	ENST00000480945.1	+	3	538	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	123							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTCATCTCCTGGAGAAATAAC	0.537																																						ENST00000480945.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17						c.(367-369)Gga>Aga		DNA-damage inducible 1 homolog 2 (S. cerevisiae)							95	88	91					1																	15956918		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956918G>A		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.367G>A	1.37:g.15956918G>A	ENSP00000417748:p.Gly123Arg						p.G123R	NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	538	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	123					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.367G>A	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349553	0.61183	.	.	ENSG00000197312	ENST00000480945	T	0.22336	1.96	5.67	4.76	0.60689	.	0.513584	0.17590	U	0.168812	T	0.22244	0.0536	L	0.42245	1.32	0.37204	D	0.904513	P	0.36599	0.56	B	0.43052	0.406	T	0.12400	-1.0549	10	0.26408	T	0.33	-20.094	9.1566	0.36996	0.081:0.258:0.661:0.0	.	123	Q5TDH0	DDI2_HUMAN	R	123	ENSP00000417748:G123R	ENSP00000449475:G8R	G	+	1	0	DDI2	15829505	0.930000	0.31532	1.000000	0.80357	0.998000	0.95712	1.433000	0.34947	1.407000	0.46875	0.650000	0.86243	GGA		0.537	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		24	31	0	0	0	1	0	24	31					A	15956918	G	A	15956918	3	1	126	1	0	0	0	0	1	0	0	0	4329	1349	47	3	377	3	DDI2	1	15956918	Missense_Mutation	SNP	G	TCGA-SR-A6MZ-01A-11D-A35I-08		15956918	233293703	1	2275										
EPHB2	2048	broad.mit.edu	37	chr1	23232562	23232562	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgggagtttgccaaggaaatTgacatctcctgtgtcaaaat	10	8	2	1			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr1:23232562T>C	ENST00000400191.3	+	10	1866	c.1848T>C	c.(1846-1848)atT>atC	p.I616I	EPHB2_ENST00000374627.1_Silent_p.I611I|EPHB2_ENST00000374632.3_Silent_p.I617I|EPHB2_ENST00000374630.3_Silent_p.I616I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	616					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAAGGAAATTGACATCTCCT	0.542																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1846-1848)atT>atC		EPH receptor B2							108	94	99					1																	23232562		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23232562T>C	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1848T>C	1.37:g.23232562T>C						EPHB2_ENST00000374627.1_Silent_p.I611I|EPHB2_ENST00000374630.3_Silent_p.I616I|EPHB2_ENST00000374632.3_Silent_p.I617I	p.I616I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	10	1866	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	616					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1848T>C																																																																																					0.542	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		8	19	0	0	0	1	0	8	19					C	23232562	T	C	23232562	2	2	126	1	0	0	0	0	0	0	0	1	5175	1800	63	4		4	EPHB2	1	23232562	Silent	SNP	T	TCGA-SR-A6MZ-01A-11D-A35I-08	7275644	23232562	226018059	2	2276										
CHST2	9435	broad.mit.edu	37	chr3	142840567	142840567	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	aagtaccgcacactagtcatAaagggtgtgcgcgtcttcga							TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr3:142840567delA	ENST00000309575.3	+	2	2293	c.909delA	c.(907-909)atafs	p.I303fs		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	303					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CACTAGTCATAAAGGGTGTGC	0.657																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(907-909)atfs		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							25	25	25					3																	142840567		2197	4299	6496	SO:0001589	frameshift_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840567delA	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.909delA	3.37:g.142840567delA	ENSP00000307911:p.Ile303fs						p.I303fs	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2293	+			303					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Frame_Shift_Del	DEL	ENST00000309575.3	37	c.909delA	CCDS3129.1																																																																																				0.657	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		2	4						2	4	---	---	---	---	-	142840567	A	-	142840567	7	5	126	1	0	1	0	1	0	0	0	0	3404	352	13	0	911	0	CHST2	3	142840567	Frame_Shift_Del	DEL	A	TCGA-SR-A6MZ-01A-11D-A35I-08		142840567	55181863	3	2277										
EGF	1950	broad.mit.edu	37	chr4	110925779	110925779	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctcttgccctcaaccttggGtaatgtgaccaaagcagatg	9	12	2	2			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr4:110925779G>C	ENST00000265171.5	+	22	3736		c.e22+1		EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TCAACCTTGGGTAATGTGACC	0.438																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.e22+1		epidermal growth factor	Sulindac(DB00605)						100	90	93					4																	110925779		2203	4300	6503	SO:0001630	splice_region_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110925779G>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3291+1G>C	4.37:g.110925779G>C						EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site		NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	22	3736	+		Hepatocellular(203;0.0893)						B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Splice_Site	SNP	ENST00000265171.5	37		CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283705	0.40394	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9763	0.53094	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGF	111145228	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.426000	0.59882	2.250000	0.74265	0.650000	0.86243	.		0.438	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		Intron	5	49	0	0	0	1	0	5	49					C	110925779	G	C	110925779	5	2	126	1	0	0	0	0	0	0	1	0	4962	1275	44	5	3378	5	EGF	4	110925779	Splice_Site	SNP	G	TCGA-SR-A6MZ-01A-11D-A35I-08		110925779	80228497	4	2278										
PLEKHG4B	153478	broad.mit.edu	37	chr5	140562	140563	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	0	0	1	1	0	acccaggaggaaacctctggINScccccggggagacccccaac							TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr5:140562_140563insC	ENST00000283426.6	+	1	190_191	c.140_141insC	c.(139-144)ggccccfs	p.GP47fs	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	47							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAACCTCTGGCCCCCGGGGAG	0.673																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(139-141)gccfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B																																				SO:0001589	frameshift_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140562_140563insC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.145dupC	5.37:g.140567_140567dupC	ENSP00000283426:p.Gly47fs						p.A47fs	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	190_191	+			47						Frame_Shift_Ins	INS	ENST00000283426.6	37	c.140_141insC	CCDS34124.1																																																																																				0.673	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		2	4						2	4	---	---	---	---	C	140563	-	C	140562	7	5	126	1	0	1	1	0	0	0	0	0	12072	1203	42	0	142	0	PLEKHG4B	5	140562	Frame_Shift_Ins	INS	-	TCGA-SR-A6MZ-01A-11D-A35I-08		140562	180774698	5	2279										
ABCA13	154664	broad.mit.edu	37	chr7	48311940	48311940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctatgaacatagattttgtaCgtttaagtgaggctataata	8	4	0	3	rs534252499		TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr7:48311940C>T	ENST00000435803.1	+	17	2701	c.2677C>T	c.(2677-2679)Cgt>Tgt	p.R893C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	893					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATTTTGTACGTTTAAGTGA	0.383													C|||	1	0.000199681	0	0.0014	5008	,	,		17159	0		0	False		,,,				2504	0					ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2677-2679)Cgt>Tgt		ATP-binding cassette, sub-family A (ABC1), member 13							115	114	114					7																	48311940		1845	4087	5932	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311940C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2677C>T	7.37:g.48311940C>T	ENSP00000411096:p.Arg893Cys						p.R893C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2701	+			893					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2677C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	5.229	0.227731	0.09916	.	.	ENSG00000179869	ENST00000435803	D	0.86366	-2.11	5.46	0.942	0.19525	.	0.401893	0.20733	N	0.086665	T	0.65165	0.2665	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	B	0.36766	0.232	T	0.65146	-0.6239	10	0.87932	D	0	.	2.2445	0.04028	0.1642:0.4913:0.1139:0.2306	.	893	Q86UQ4	ABCAD_HUMAN	C	893	ENSP00000411096:R893C	ENSP00000411096:R893C	R	+	1	0	ABCA13	48282486	0.000000	0.05858	0.011000	0.14972	0.010000	0.07245	-0.287000	0.08388	0.372000	0.24591	-0.143000	0.13931	CGT		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		11	94	0	0	0	1	0	11	94					T	48311940	C	T	48311940	3	4	126	1	0	0	0	0	1	0	0	0	31	536	19	1	2572	1	ABCA13	7	48311940	Missense_Mutation	SNP	C	TCGA-SR-A6MZ-01A-11D-A35I-08		48311940	110826723	6	2280										
PTCHD3	374308	broad.mit.edu	37	chr10	27700844	27700844	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccagttgtctggaaagcgaTgtaaagtggactacctgcca	11	9	1	0			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr10:27700844T>C	ENST00000438700.3	-	2	1221	c.1104A>G	c.(1102-1104)acA>acG	p.T368T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	368					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGGAAAGCGATGTAAAGTGGA	0.358																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(1102-1104)acA>acG		patched domain containing 3							61	55	58					10																	27700844		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27700844T>C	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1104A>G	10.37:g.27700844T>C							p.T368T	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			2	1221	-			368					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1104A>G	CCDS31173.1																																																																																				0.358	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		25	27	0	0	0	1	0	25	27					C	27700844	T	C	27700844	2	2	126	1	0	0	0	0	0	0	0	1	12734	1451	51	4		4	PTCHD3	10	27700844	Silent	SNP	T	TCGA-SR-A6MZ-01A-11D-A35I-08		27700844	107833903	7	2281										
MUC15	143662	broad.mit.edu	37	chr11	26582751	26582751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactcacatcataaggttccGgtgcattgtctaatcgcaga	8	10	3	1	rs201218745	byFrequency	TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chr11:26582751G>A	ENST00000455601.2	-	4	984	c.866C>T	c.(865-867)cCg>cTg	p.P289L	MUC15_ENST00000527569.1_Missense_Mutation_p.P266L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.P316L|MUC15_ENST00000529533.1_Missense_Mutation_p.P316L|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P266L|ANO3_ENST00000531568.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	289					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATAAGGTTCCGGTGCATTGTC	0.378													G|||	14	0.00279553	0	0	5008	,	,		16236	0		0	False		,,,				2504	0.0143					ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(946-948)cCg>cTg		mucin 15, cell surface associated		G	LEU/PRO,LEU/PRO,,LEU/PRO	1,4405	4.2+/-10.8	0,1,2202	123	110	114		947,797,,866	4.5	0.9	11		114	0,8600		0,0,4300	yes	missense,missense,intron,missense	ANO3,MUC15	NM_001135091.1,NM_001135092.1,NM_031418.2,NM_145650.3	98,98,,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,probably-damaging	316/362,266/312,,289/335	26582751	1,13005	2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582751G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.866C>T	11.37:g.26582751G>A	ENSP00000397339:p.Pro289Leu					MUC15_ENST00000455601.2_Missense_Mutation_p.P289L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P266L|MUC15_ENST00000529533.1_Missense_Mutation_p.P316L|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P266L|ANO3_ENST00000525139.1_Intron	p.P316L			Q8N387	MUC15_HUMAN			4	1080	-			289					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.947C>T	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045034	0.75846	2.27E-4	0.0	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.31247	1.53;1.5;1.5;1.5;1.5	5.42	4.5	0.54988	.	0.279911	0.25695	N	0.028913	T	0.23611	0.0571	L	0.29908	0.895	0.42787	D	0.993888	P;P;P	0.42409	0.779;0.56;0.72	B;B;B	0.37989	0.262;0.112;0.191	T	0.06588	-1.0818	10	0.72032	D	0.01	-22.5625	13.2789	0.60202	0.0783:0.0:0.9217:0.0	.	266;289;316	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	L	289;316;266;316;266	ENSP00000397339:P289L;ENSP00000416753:P316L;ENSP00000281268:P266L;ENSP00000431983:P316L;ENSP00000431945:P266L	ENSP00000281268:P266L	P	-	2	0	MUC15	26539327	0.994000	0.37717	0.923000	0.36655	0.933000	0.57130	2.562000	0.45914	1.413000	0.46997	0.585000	0.79938	CCG		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		8	28	0	0	0	1	0	8	28					A	26582751	G	A	26582751	3	1	126	1	0	0	0	0	1	0	0	0	9972	1116	39	2	142	2	MUC15	11	26582751	Missense_Mutation	SNP	G	TCGA-SR-A6MZ-01A-11D-A35I-08		26582751	108423765	8	2282										
FRMPD4	9758	broad.mit.edu	37	chrX	12735149	12735149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacgctgtgcccaccagcgcCgaaggcaagtgtgagaaggg	16	11	0	1			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chrX:12735149C>T	ENST00000380682.1	+	15	3077	c.2571C>T	c.(2569-2571)gcC>gcT	p.A857A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	857					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCACCAGCGCCGAAGGCAAGT	0.567																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2569-2571)gcC>gcT		FERM and PDZ domain containing 4							100	92	94					X																	12735149		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735149C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2571C>T	X.37:g.12735149C>T							p.A857A	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	3077	+			857					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.2571C>T	CCDS35201.1																																																																																				0.567	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		17	83	0	0	0	1	0	17	83					T	12735149	C	T	12735149	2	4	126	1	0	0	0	0	0	0	0	1	6059	639	23	2		2	FRMPD4	23	12735149	Silent	SNP	C	TCGA-SR-A6MZ-01A-11D-A35I-08		12735149	142535411	9	2283										
MAGEB6	158809	broad.mit.edu	37	chrX	26213093	26213093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagagtcctgcgtgttttggCcgacagcagtaacaccagtc	12	11	0	1			TCGA-SR-A6MZ-01A-11D-A35I-08	TCGA-SR-A6MZ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c5531-bff1-4ac6-93d7-a5561cdd00c8	8fe2059d-3e5b-4c9b-92aa-08e08a05b61b	g.chrX:26213093C>T	ENST00000379034.1	+	2	1279	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	377	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A377D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGTTTTGGCCGACAGCAGT	0.512																																						ENST00000379034.1																			1	Substitution - Missense(1)	p.A377D(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1129-1131)gCc>gTc		melanoma antigen family B, 6							124	112	116					X																	26213093		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26213093C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1130C>T	X.37:g.26213093C>T	ENSP00000368320:p.Ala377Val						p.A377V	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1279	+			377			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1130C>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752697	0.49362	.	.	ENSG00000176746	ENST00000379034	T	0.03124	4.04	3.29	3.29	0.37713	.	0.222920	0.35677	U	0.003046	T	0.17238	0.0414	M	0.87971	2.92	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.01428	-1.1357	10	0.54805	T	0.06	.	9.1984	0.37242	0.0:1.0:0.0:0.0	.	377	Q8N7X4	MAGB6_HUMAN	V	377	ENSP00000368320:A377V	ENSP00000368320:A377V	A	+	2	0	MAGEB6	26123014	0.024000	0.19004	0.014000	0.15608	0.001000	0.01503	0.452000	0.21795	1.907000	0.55213	0.594000	0.82650	GCC		0.512	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		4	128	0	0	0	1	0	4	128					T	26213093	C	T	26213093	3	4	126	1	0	0	0	0	1	0	0	0	9179	739	26	3	1132	3	MAGEB6	23	26213093	Missense_Mutation	SNP	C	TCGA-SR-A6MZ-01A-11D-A35I-08	13477944	26213093	129057467	10	2284										
ALG6	29929	broad.mit.edu	37	chr1	63877718	63877718	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	gaagactcttcccggttgatCgtggattatttgaggcatgt							TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr1:63877718delC	ENST00000371108.4	+	9	1107	c.802delC	c.(802-804)cgtfs	p.R268fs	ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	268					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCCGGTTGATCGTGGATTATT	0.438																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(802-804)gtfs		ALG6, alpha-1,3-glucosyltransferase							157	150	152					1																	63877718		2203	4300	6503	SO:0001589	frameshift_variant	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63877718delC	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.802delC	1.37:g.63877718delC	ENSP00000360149:p.Arg268fs					ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs	p.R268fs	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			9	1107	+			268					B3KMU2|Q5SXR9|Q9H3I0	Frame_Shift_Del	DEL	ENST00000371108.4	37	c.802delC	CCDS30735.1																																																																																				0.438	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		42	140						42	140	---	---	---	---	-	63877718	C	-	63877718	7	5	127	1	0	1	0	1	0	0	0	0	522	884	31	0	832	0	ALG6	1	63877718	Frame_Shift_Del	DEL	C	TCGA-SR-A6N0-01A-11D-A35I-08		63877718	185372903	1	2285										
KLHL23	151230	broad.mit.edu	37	chr2	170606207	170606207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtaatcttcccagtgccatgCggtctcatgggtgtgtttgt	12	9	2	0			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr2:170606207C>T	ENST00000392647.2	+	4	1886	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W|KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	548										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CAGTGCCATGCGGTCTCATGG	0.373																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1642-1644)Cgg>Tgg		kelch-like family member 23							221	214	216					2																	170606207		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170606207C>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1642C>T	2.37:g.170606207C>T	ENSP00000376419:p.Arg548Trp					KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W|KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W	p.R548W	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			4	1886	+			548					Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.1642C>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639525	0.67244	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.66460	-0.21;-0.21	5.55	2.63	0.31362	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	L	0.31065	0.9	0.34834	D	0.739985	D	0.89917	1.0	P	0.60286	0.872	T	0.74959	-0.3486	9	0.54805	T	0.06	.	14.4257	0.67215	0.3863:0.6136:0.0:0.0	.	548	Q8NBE8	KLH23_HUMAN	W	548	ENSP00000272797:R548W;ENSP00000376419:R548W	ENSP00000272797:R548W	R	+	1	2	KLHL23	170314453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.412000	0.44609	0.243000	0.21327	0.655000	0.94253	CGG		0.373	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		4	100	0	0	0	1	0	4	100					T	170606207	C	T	170606207	3	4	127	1	0	0	0	0	1	0	0	0	8378	759	27	1	1652	1	KLHL23	2	170606207	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08		170606207	72593166	2	2286										
TRIO	7204	broad.mit.edu	37	chr5	14391061	14391061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaaaaataagcctgattctActcagctgatattggaacat	7	8	2	2			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr5:14391061A>T	ENST00000344204.4	+	27	4204	c.4180A>T	c.(4180-4182)Act>Tct	p.T1394S	TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S|TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1394	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTGATTCTACTCAGCTGAT	0.343																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4180-4182)Act>Tct		trio Rho guanine nucleotide exchange factor							95	93	93					5																	14391061		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14391061A>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4180A>T	5.37:g.14391061A>T	ENSP00000339299:p.Thr1394Ser					TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S|TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S	p.T1394S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			27	4204	+	Lung NSC(4;0.000742)		1394			DH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4180A>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234623	0.58886	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.62639	0.01;0.01;0.01	5.29	5.29	0.74685	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	N	0.12746	0.255	0.58432	D	0.999999	B;B;P	0.48764	0.001;0.085;0.915	B;B;P	0.61477	0.001;0.057;0.889	T	0.59947	-0.7358	10	0.23302	T	0.38	.	15.5309	0.75960	1.0:0.0:0.0:0.0	.	1345;1394;1394	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	S	1394;1394;1345;1081	ENSP00000339299:T1394S;ENSP00000446348:T1394S;ENSP00000445592:T1345S	ENSP00000339299:T1394S	T	+	1	0	TRIO	14444061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.120000	0.65058	0.528000	0.53228	ACT		0.343	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		17	56	0	0	0	1	0	17	56					T	14391061	A	T	14391061	3	4	127	1	0	0	0	0	1	0	0	0	16549	391	14	5	4286	5	TRIO	5	14391061	Missense_Mutation	SNP	A	TCGA-SR-A6N0-01A-11D-A35I-08		14391061	166524199	3	2287										
P4HA2	8974	broad.mit.edu	37	chr5	131546166	131546166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccttcattgtaggccgagcGgcccatcccaaagcagtcat	9	15	2	0	rs377044728		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr5:131546166G>A	ENST00000401867.1	-	7	1088	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	174					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R174C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGGCCGAGCGGCCCATCCCA	0.537																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			1	Substitution - Missense(1)	p.R174C(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(520-522)Cgc>Tgc		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	284	283	283		520,520,520,520,520	4.6	1	5		283	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	P4HA2	NM_001017973.1,NM_001017974.1,NM_001142598.1,NM_001142599.1,NM_004199.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	174/534,174/534,174/534,174/536,174/536	131546166	1,13005	2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131546166G>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)"	600608	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.520C>T	5.37:g.131546166G>A	ENSP00000384999:p.Arg174Cys					P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C	p.R174C			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1088	-		all_cancers(142;0.103)|Breast(839;0.198)	174					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.520C>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848440	0.71603	2.27E-4	0.0	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.62	4.63	0.57726	Tetratricopeptide-like helical (1);	0.046535	0.85682	D	0.000000	T	0.63200	0.2491	M	0.70842	2.15	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;D	0.64321	0.776;0.924	T	0.65709	-0.6102	10	0.87932	D	0	-15.8867	11.5404	0.50663	0.0:0.0:0.6253:0.3747	.	174;174	O15460;O15460-2	P4HA2_HUMAN;.	C	174;174;174;174;174;174;174;206;174	ENSP00000384999:R174C;ENSP00000368379:R174C;ENSP00000166534:R174C;ENSP00000353772:R174C;ENSP00000368398:R174C;ENSP00000368394:R174C	ENSP00000166534:R174C	R	-	1	0	P4HA2	131574065	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	5.616000	0.67709	2.809000	0.96659	0.467000	0.42956	CGC		0.537	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		22	354	0	0	0	1	0	22	354					A	131546166	G	A	131546166	3	1	127	1	0	0	0	0	1	0	0	0	11357	1116	39	2	1191	2	P4HA2	5	131546166	Missense_Mutation	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08	117155105	131546166	49369094	4	2288										
NOTCH4	4855	broad.mit.edu	37	chr6	32184732	32184732	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccctgtgaacctgtgaaaccAgaggggcagaggcaaaagaa	13	9	0	5			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr6:32184732A>G	ENST00000375023.3	-	11	1989	c.1851T>C	c.(1849-1851)tcT>tcC	p.S617S	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	617	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGTGAAACCAGAGGGGCAGA	0.527																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1849-1851)tcT>tcC		notch 4							84	78	80					6																	32184732		1511	2709	4220	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32184732A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1851T>C	6.37:g.32184732A>G							p.S617S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			11	1989	-			617			EGF-like 15; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1851T>C	CCDS34420.1																																																																																				0.527	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			12	39	0	0	0	1	0	12	39					G	32184732	A	G	32184732	2	3	127	1	0	0	0	0	0	0	0	1	10551	175	7	4		4	NOTCH4	6	32184732	Silent	SNP	A	TCGA-SR-A6N0-01A-11D-A35I-08		32184732	138930335	5	2289										
EIF2C2	27161	broad.mit.edu	37	chr8	141551409	141551409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgccggtgctgctgcacgcGcacggtggcgcagtagcgat	16	13	0	0			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr8:141551409G>A	ENST00000220592.5	-	15	2000	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	AGO2_ENST00000519980.1_Missense_Mutation_p.R630C	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	630	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TGCTGCACGCGCACGGTGGCG	0.622																																						ENST00000220592.5																			0											c.(1888-1890)Cgc>Tgc		argonaute RISC catalytic component 2							81	63	69					8																	141551409		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141551409G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1888C>T	8.37:g.141551409G>A	ENSP00000220592:p.Arg630Cys					AGO2_ENST00000519980.1_Missense_Mutation_p.R630C	p.R630C	NM_012154.3	NP_036286.2					15	2000	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1888C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325526	0.60743	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.32753	1.44;1.44	5.36	3.44	0.39384	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.74258	2.255	0.80722	D	1	P;D	0.52996	0.954;0.957	P;P	0.60415	0.702;0.874	T	0.50482	-0.8823	10	0.31617	T	0.26	-16.0323	14.2655	0.66116	0.0:0.0:0.5622:0.4378	.	630;630	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	C	630	ENSP00000220592:R630C;ENSP00000430176:R630C	ENSP00000220592:R630C	R	-	1	0	EIF2C2	141620591	1.000000	0.71417	0.863000	0.33907	0.968000	0.65278	3.201000	0.51059	1.358000	0.45922	0.650000	0.86243	CGC		0.622	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			3	19	0	0	0	1	0	3	19					A	141551409	G	A	141551409	3	1	127	1	0	0	0	0	1	0	0	0	5006	1087	38	1	711	1	EIF2C2	8	141551409	Missense_Mutation	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08		141551409	4812613	6	2290										
OR1J2	26740	broad.mit.edu	37	chr9	125273104	125273104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agccctgagaaccagagcagCgtgtccgagttcctccttct	10	14	1	2			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr9:125273104C>T	ENST00000335302.5	+	1	24	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACCAGAGCAGCGTGTCCGAGT	0.527																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(22-24)agC>agT		olfactory receptor, family 1, subfamily J, member 2							148	138	141					9																	125273104		2203	4300	6503	SO:0001819	synonymous_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273104C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.24C>T	9.37:g.125273104C>T							p.S8S	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	24	+			8					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	c.24C>T	CCDS35121.1																																																																																				0.527	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			4	96	0	0	0	1	0	4	96					T	125273104	C	T	125273104	2	4	127	1	0	0	0	0	0	0	0	1	10960	767	27	1		1	OR1J2	9	125273104	Silent	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08		125273104	15940327	7	2291										
NOTCH1	4851	broad.mit.edu	37	chr9	139414008	139414008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tattttcctcacagttctggCcggtgaagcctgccgcaaga	10	12	2	2			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr9:139414008C>T	ENST00000277541.6	-	5	827	c.752G>A	c.(751-753)gGc>gAc	p.G251D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	251	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACAGTTCTGGCCGGTGAAGCC	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(751-753)gGc>gAc		notch 1							93	115	108					9																	139414008		2039	4193	6232	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139414008C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.752G>A	9.37:g.139414008C>T	ENSP00000277541:p.Gly251Asp	HNSCC(8;0.001)					p.G251D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	827	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	251			EGF-like 6.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.752G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955174	0.92726	.	.	ENSG00000148400	ENST00000277541	D	0.99105	-5.43	5.12	5.12	0.69794	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	M	0.92833	3.35	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	D	0.98604	1.0660	10	0.66056	D	0.02	.	16.0241	0.80528	0.0:1.0:0.0:0.0	.	251	P46531	NOTC1_HUMAN	D	251	ENSP00000277541:G251D	ENSP00000277541:G251D	G	-	2	0	NOTCH1	138533829	1.000000	0.71417	0.945000	0.38365	0.820000	0.46376	7.653000	0.83643	2.381000	0.81170	0.561000	0.74099	GGC		0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	217	0	0	0	1	0	5	217					T	139414008	C	T	139414008	3	4	127	1	0	0	0	0	1	0	0	0	10547	739	26	3	7035	3	NOTCH1	9	139414008	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08	14140904	139414008	1799423	8	2292										
OR6C76	390326	broad.mit.edu	37	chr12	55820078	55820078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gacagatttcatccttctggGtctgacggataatccgcaac	9	11	3	2			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr12:55820078G>A	ENST00000328314.3	+	1	41	c.41G>A	c.(40-42)gGt>gAt	p.G14D		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCTTCTGGGTCTGACGGAT	0.373																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(40-42)gGt>gAt		olfactory receptor, family 6, subfamily C, member 76							154	146	149					12																	55820078		2203	4300	6503	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820078G>A		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.41G>A	12.37:g.55820078G>A	ENSP00000328402:p.Gly14Asp						p.G14D	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	41	+			14						Missense_Mutation	SNP	ENST00000328314.3	37	c.41G>A	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.736084	0.89482	.	.	ENSG00000185821	ENST00000328314	T	0.02301	4.35	4.35	4.35	0.52113	.	0.000000	0.43579	U	0.000553	T	0.14657	0.0354	M	0.92122	3.275	0.37873	D	0.930111	D	0.58970	0.984	P	0.61397	0.888	T	0.02610	-1.1134	10	0.72032	D	0.01	.	13.2621	0.60111	0.0:0.2073:0.7927:0.0	.	14	A6NM76	O6C76_HUMAN	D	14	ENSP00000328402:G14D	ENSP00000328402:G14D	G	+	2	0	OR6C76	54106345	0.979000	0.34478	0.602000	0.28890	0.731000	0.41821	2.788000	0.47806	2.405000	0.81733	0.598000	0.82781	GGT		0.373	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		21	56	0	0	0	1	0	21	56					A	55820078	G	A	55820078	3	1	127	1	0	0	0	0	1	0	0	0	11200	1261	44	3	43	3	OR6C76	12	55820078	Missense_Mutation	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08		55820078	78031817	9	2293										
HNF1B	6928	broad.mit.edu	37	chr17	36099431	36099431	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcaggatgaaaacacttacGtcggaggatctctcgttgct	12	9	1	1			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr17:36099431G>A	ENST00000225893.4	-	2	905	c.544C>T	c.(544-546)Caa>Taa	p.Q182*	HNF1B_ENST00000561193.1_Splice_Site_p.Q182*|HNF1B_ENST00000560016.1_Splice_Site_p.Q182*|HNF1B_ENST00000427275.2_Splice_Site_p.Q182*	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	182					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AAACACTTACGTCGGAGGATC	0.547																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28	GRCh37	CM042491	HNF1B	M		c.e2+1		HNF1 homeobox B							140	121	127					17																	36099431		2203	4300	6503	SO:0001630	splice_region_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36099431G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.544+1C>T	17.37:g.36099431G>A						HNF1B_ENST00000427275.2_Splice_Site_p.Q182_splice|HNF1B_ENST00000561193.1_Splice_Site_p.Q182_splice|HNF1B_ENST00000560016.1_Splice_Site_p.Q182_splice	p.Q182_splice	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		2	905	-		Breast(25;0.00765)|Ovarian(249;0.15)	182					B4DKM3|E0YMJ9	Splice_Site	SNP	ENST00000225893.4	37	c.544_splice	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	40	7.944435	0.98574	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	.	.	.	5.96	5.96	0.96718	.	0.102593	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.621	19.3889	0.94570	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;182;70	.	.	Q	-	1	0	HNF1B	33173544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.826000	0.97356	0.655000	0.94253	CAA;CAG;CAA;CAA		0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	Nonsense_Mutation	5	64	0	0	0	1	0	5	64					A	36099431	G	A	36099431	5	1	127	1	0	0	0	0	0	0	1	0	7252	1159	40	1	1161	1	HNF1B	17	36099431	Splice_Site	SNP	G	TCGA-SR-A6N0-01A-11D-A35I-08		36099431	45095779	10	2294										
PCSK4	92840	broad.mit.edu	37	chr19	1490185	1490185	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggttgacgaagccgaatttgCgtgccaggcgctcgacctcc	13	13	0	1			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr19:1490185C>T	ENST00000233596.3	+	0	0				PCSK4_ENST00000300954.5_Missense_Mutation_p.R54H|PCSK4_ENST00000587784.1_Intron	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGAATTTGCGTGCCAGGCG	0.687																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(160-162)cGc>cAc		proprotein convertase subtilisin/kexin type 4							24	26	25					19																	1490185		2203	4300	6503	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1490185C>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1490185C>T	Exception_encountered					PCSK4_ENST00000587784.1_Intron	p.R54H	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	222	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	54					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.161G>A	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822137	0.71028	.	.	ENSG00000115257	ENST00000300954	T	0.32515	1.45	3.3	0.883	0.19177	Proteinase inhibitor, propeptide (1);	0.474579	0.17075	N	0.188014	T	0.37019	0.0988	L	0.53617	1.68	0.28048	N	0.933468	D	0.76494	0.999	P	0.60117	0.869	T	0.16305	-1.0407	10	0.56958	D	0.05	.	2.5982	0.04859	0.2294:0.5071:0.0:0.2635	.	54	Q6UW60	PCSK4_HUMAN	H	54	ENSP00000300954:R54H	ENSP00000300954:R54H	R	-	2	0	PCSK4	1441185	0.021000	0.18746	0.996000	0.52242	0.935000	0.57460	1.113000	0.31184	0.733000	0.32492	0.313000	0.20887	CGC		0.687	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		4	50	0	0	0	1	0	4	50					T	1490185	C	T	1490185	1	4	127	0	1	0	0	0	0	0	0	0	11602	768	27	1		1	PCSK4	19	1490185	5'Flank	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08		1490185	57638798	11	2295										
ZNF528	84436	broad.mit.edu	37	chr19	52919463	52919463	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tagagagttttcagaccttaCtgcccattttctaatccata	5	10	2	2			TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chr19:52919463C>G	ENST00000360465.3	+	7	1784	c.1358C>G	c.(1357-1359)aCt>aGt	p.T453S	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAGACCTTACTGCCCATTTT	0.373																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1357-1359)aCt>aGt		zinc finger protein 528							73	74	74					19																	52919463		2202	4300	6502	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919463C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1358C>G	19.37:g.52919463C>G	ENSP00000353652:p.Thr453Ser					ZNF528_ENST00000391788.2_3'UTR	p.T453S	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1784	+			453					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1358C>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360529	0.11296	.	.	ENSG00000167555	ENST00000360465	T	0.35421	1.31	1.96	-2.16	0.07080	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18509	0.0444	N	0.20483	0.58	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.19484	-1.0304	9	0.44086	T	0.13	.	2.6141	0.04899	0.4002:0.2633:0.0:0.3365	.	453	Q3MIS6	ZN528_HUMAN	S	453	ENSP00000353652:T453S	ENSP00000353652:T453S	T	+	2	0	ZNF528	57611275	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.953000	0.01526	-0.576000	0.05974	-0.284000	0.09977	ACT		0.373	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		5	98	0	0	0	1	0	5	98					G	52919463	C	G	52919463	3	3	127	1	0	0	0	0	1	0	0	0	17966	565	20	5	1372	5	ZNF528	19	52919463	Missense_Mutation	SNP	C	TCGA-SR-A6N0-01A-11D-A35I-08	51429278	52919463	6209520	12	2296										
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-SR-A6N0-01A-11D-A35I-08	TCGA-SR-A6N0-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394	58d7aaf7-14d1-443c-8b7b-48a900d22a8a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	125	0	0	0	1	0	5	125					G	37028425	A	G	37028425	3	3	127	1	0	0	0	0	1	0	0	0	5571	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-SR-A6N0-01A-11D-A35I-08		37028425	118242135	13	2297										
SYT6	148281	broad.mit.edu	37	chr1	114680328	114680328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggtggggttcagggtcttgCggtgcacccgggtctgcagc	18	10	3	0	rs373704316		TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr1:114680328C>T	ENST00000610222.1	-	3	1006	c.860G>A	c.(859-861)cGc>cAc	p.R287H	SYT6_ENST00000393296.1_Missense_Mutation_p.R287H|SYT6_ENST00000369547.1_Missense_Mutation_p.R202H|SYT6_ENST00000607941.1_Missense_Mutation_p.R202H|SYT6_ENST00000609117.1_Missense_Mutation_p.R202H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	287	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGTCTTGCGGTGCACCCG	0.547																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(859-861)cGc>cAc		synaptotagmin VI		C	HIS/ARG	0,4406		0,0,2203	128	121	123		605	5.5	1	1		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	202/426	114680328	1,13005	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680328C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.860G>A	1.37:g.114680328C>T	ENSP00000476396:p.Arg287His					SYT6_ENST00000369547.1_Missense_Mutation_p.R202H	p.R287H			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	937	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	287			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.860G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.311632	0.95655	0.0	1.16E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78942	-0.2005	10	0.87932	D	0	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	287	Q5T7P8	SYT6_HUMAN	H	202;287;202;287	ENSP00000358560:R202H;ENSP00000376974:R287H;ENSP00000358559:R202H;ENSP00000358558:R287H	ENSP00000358558:R287H	R	-	2	0	SYT6	114481851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.571000	0.86741	0.655000	0.94253	CGC		0.547	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		5	26	0	0	0	1	0	5	26					T	114680328	C	T	114680328	3	4	128	1	0	0	0	0	1	0	0	0	15475	768	27	1	692	1	SYT6	1	114680328	Missense_Mutation	SNP	C	TCGA-TT-A6YJ-01A-11D-A35I-08		114680328	134570293	1	2298										
VNN2	8875	broad.mit.edu	37	chr6	133073759	133073759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacatggaaatctttcaccaGggtaacaccaggatcataga	8	10	3	1			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr6:133073759G>T	ENST00000326499.6	-	4	791	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525270.1_Missense_Mutation_p.L170M|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	223	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCTTTCACCAGGGTAACACCA	0.443																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(667-669)Ctg>Atg		vanin 2							152	135	141					6																	133073759		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073759G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.667C>A	6.37:g.133073759G>T	ENSP00000322276:p.Leu223Met					VNN2_ENST00000525270.1_Missense_Mutation_p.L170M|VNN2_ENST00000525289.1_Intron	p.L223M	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	4	791	-			223			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.667C>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428241	0.43122	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.88509	-2.39;-2.39	5.41	3.38	0.38709	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.49916	D	0.000130	D	0.90988	0.7166	M	0.88105	2.93	0.58432	D	0.999995	D	0.57899	0.981	P	0.58577	0.841	D	0.91105	0.4917	10	0.72032	D	0.01	-8.7611	6.3535	0.21389	0.0874:0.1629:0.6325:0.1172	.	223	O95498	VNN2_HUMAN	M	223;170	ENSP00000322276:L223M;ENSP00000436822:L170M	ENSP00000322276:L223M	L	-	1	2	VNN2	133115452	0.024000	0.19004	0.870000	0.34147	0.488000	0.33401	0.043000	0.13971	1.333000	0.45449	0.609000	0.83330	CTG		0.443	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			4	69	1	0	0.00909568	1	0.00970206	4	69					T	133073759	G	T	133073759	3	4	128	1	0	0	0	0	1	0	0	0	17180	991	35	5	911	5	VNN2	6	133073759	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		133073759	38041308	2	2299										
TAF1L	138474	broad.mit.edu	37	chr9	32633094	32633094	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagaaaaggcggtaaataaaAacctgtagaaagtctcgaat	9	6	1	2			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr9:32633094A>T	ENST00000242310.4	-	1	2573	c.2484T>A	c.(2482-2484)gtT>gtA	p.V828V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	828					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTAAATAAAAACCTGTAGAA	0.438																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2482-2484)gtT>gtA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							115	119	118					9																	32633094		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633094A>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2484T>A	9.37:g.32633094A>T							p.V828V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2573	-			828					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2484T>A	CCDS35003.1																																																																																				0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			47	57	0	0	0	1	0	47	57					T	32633094	A	T	32633094	2	4	128	1	0	0	0	0	0	0	0	1	15520	1	1	5		5	TAF1L	9	32633094	Silent	SNP	A	TCGA-TT-A6YJ-01A-11D-A35I-08		32633094	108580337	3	2300										
PDE2A	5138	broad.mit.edu	37	chr11	72292484	72292484	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	gcgtgcatccagttgtggtaGgggggatcccggtagccctt							TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr11:72292484delG	ENST00000334456.5	-	23	2207	c.1962delC	c.(1960-1962)cccfs	p.P654fs	PDE2A_ENST00000444035.2_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000376450.3_Frame_Shift_Del_p.P398fs|PDE2A_ENST00000418754.2_Frame_Shift_Del_p.P539fs|PDE2A_ENST00000540345.1_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000544570.1_Frame_Shift_Del_p.P647fs	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	654	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AGTTGTGGTAGGGGGGATCCC	0.582																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1960-1962)ccfs		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						51	50	50					11																	72292484		2200	4293	6493	SO:0001589	frameshift_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292484delG	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1962delC	11.37:g.72292484delG	ENSP00000334910:p.Pro654fs					PDE2A_ENST00000444035.2_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000418754.2_Frame_Shift_Del_p.P539fs|PDE2A_ENST00000376450.3_Frame_Shift_Del_p.P398fs|PDE2A_ENST00000540345.1_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000544570.1_Frame_Shift_Del_p.P647fs	p.P654fs	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		23	2207	-			654			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Frame_Shift_Del	DEL	ENST00000334456.5	37	c.1962delC	CCDS8216.1																																																																																				0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		2	4						2	4	---	---	---	---	-	72292484	G	-	72292484	7	5	128	1	0	1	0	1	0	0	0	0	11636	987	35	0	899	0	PDE2A	11	72292484	Frame_Shift_Del	DEL	G	TCGA-TT-A6YJ-01A-11D-A35I-08		72292484	62714032	4	2301										
DLAT	1737	broad.mit.edu	37	chr11	111930686	111930690	+	Frame_Shift_Del	DEL	TTGTG	TTGTG	-													0	0	1	0	NA	0	1	1	0	tgcaggactcatcacacctaTtgtgtttaatgcacatataa							TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr11:111930686_111930690delTTGTG	ENST00000280346.6	+	12	2233_2237	c.1574_1578delTTGTG	c.(1573-1578)attgtgfs	p.IV525fs	DLAT_ENST00000393051.1_Frame_Shift_Del_p.IV420fs|DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	525	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		ATCACACCTATTGTGTTTAATGCAC	0.351																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1573-1578)afs		dihydrolipoamide S-acetyltransferase	NADH(DB00157)																																			SO:0001589	frameshift_variant	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111930686_111930690delTTGTG	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"E2 component of pyruvate dehydrogenase complex"	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1574_1578delTTGTG	11.37:g.111930686_111930690delTTGTG	ENSP00000280346:p.Ile525fs					DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs|DLAT_ENST00000393051.1_Frame_Shift_Del_p.IV420fs	p.IV525fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	12	2233_2237	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	525			Catalytic (By similarity).		Q16783|Q53EP3	Frame_Shift_Del	DEL	ENST00000280346.6	37	c.1574_1578delTTGTG	CCDS8354.1																																																																																				0.351	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		8	21						8	21	---	---	---	---	-	111930690	TTGTG	-	111930686	7	5	128	1	0	1	0	1	0	0	0	0	4549	1493	52	0	1620	0	DLAT	11	111930686	Frame_Shift_Del	DEL	TTGTG	TCGA-TT-A6YJ-01A-11D-A35I-08	39638202	111930686	23075830	5	2302										
IQSEC3	440073	broad.mit.edu	37	chr12	247904	247904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggggcgggcgccggagagcGcgggccccgggcccggggat	23	13	0	1			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr12:247904G>A	ENST00000538872.1	+	4	1493	c.1375G>A	c.(1375-1377)Gcg>Acg	p.A459T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A156T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A459T|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	459					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		gccggagagcgcgggccccgg	0.776																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1375-1377)Gcg>Acg		IQ motif and Sec7 domain 3							5	6	5					12																	247904		1812	3653	5465	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247904G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1375G>A	12.37:g.247904G>A	ENSP00000437554:p.Ala459Thr					IQSEC3_ENST00000382841.2_Missense_Mutation_p.A156T|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A459T	p.A459T			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1493	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		459					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1375G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177290	0.06380	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.09911	2.93;2.93;2.94	4.56	2.51	0.30379	.	1.468830	0.03678	N	0.245073	T	0.11110	0.0271	L	0.47716	1.5	0.09310	N	1	B;B	0.24675	0.024;0.109	B;B	0.11329	0.003;0.006	T	0.28618	-1.0038	10	0.19590	T	0.45	.	7.7088	0.28665	0.0986:0.1666:0.7348:0.0	.	459;156	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	T	459;459;156	ENSP00000437554:A459T;ENSP00000315662:A459T;ENSP00000372292:A156T	ENSP00000315662:A459T	A	+	1	0	IQSEC3	118165	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	0.328000	0.19681	2.080000	0.62538	0.561000	0.74099	GCG		0.776	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	5	0	0	0	1	0	3	5					A	247904	G	A	247904	3	1	128	1	0	0	0	0	1	0	0	0	7819	1087	38	1	1389	1	IQSEC3	12	247904	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		247904	133603991	6	2303										
KCNH5	27133	broad.mit.edu	37	chr14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagccctctcttgccccccgGcatcctgggtctggagagca	11	17	2	1			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000394968.1_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	2					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCCCCCCGGCATCCTGGGT	0.602																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(4-6)Ccg>Tcg		potassium voltage-gated channel, subfamily H (eag-related), member 5							53	47	49					14																	63511901		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63511901G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.4C>T	14.37:g.63511901G>A	ENSP00000321427:p.Pro2Ser					KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394968.1_Intron	p.P2S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	1	272	-			2					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.4C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743568	0.69418	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98876	-5.2;-5.06	5.23	5.23	0.72850	.	0.052087	0.85682	D	0.000000	D	0.98248	0.9420	M	0.72118	2.19	0.80722	D	1	P;P	0.37548	0.538;0.599	P;B	0.44359	0.447;0.103	D	0.99806	1.1038	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	2;2	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	S	2	ENSP00000321427:P2S;ENSP00000395439:P2S	ENSP00000321427:P2S	P	-	1	0	KCNH5	62581654	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.118000	0.89577	2.611000	0.88343	0.563000	0.77884	CCG		0.602	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	42	0	0	0	1	0	3	42					A	63511901	G	A	63511901	3	1	128	1	0	0	0	0	1	0	0	0	8035	1203	42	3	3040	3	KCNH5	14	63511901	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		63511901	43837639	7	2304										
IL34	146433	broad.mit.edu	37	chr16	70688489	70688489	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggggaatgagcctttggagaTgtggcccttgacgcagaatg	16	7	0	4			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr16:70688489T>C	ENST00000288098.2	+	2	460	c.77T>C	c.(76-78)aTg>aCg	p.M26T	IL34_ENST00000429149.2_Missense_Mutation_p.M26T|IL34_ENST00000569641.1_Intron|IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	26					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CCTTTGGAGATGTGGCCCTTG	0.567											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000429149.2																			0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(76-78)aTg>aCg		interleukin 34							361	247	285					16																	70688489		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70688489T>C	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.77T>C	16.37:g.70688489T>C	ENSP00000288098:p.Met26Thr		OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	IL34_ENST00000288098.2_Missense_Mutation_p.M26T|IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T|IL34_ENST00000569641.1_Intron	p.M26T	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			3	632	+			26					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.77T>C	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	T	5.554	0.287079	0.10513	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.40756	1.02;1.02	4.13	1.61	0.23674	.	1.290590	0.05627	N	0.580966	T	0.33847	0.0877	L	0.51422	1.61	0.19300	N	0.999975	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.24119	-1.0169	10	0.30078	T	0.28	-2.2395	2.5238	0.04686	0.2008:0.2217:0.0:0.5775	.	26;26	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	T	26	ENSP00000397863:M26T;ENSP00000288098:M26T	ENSP00000288098:M26T	M	+	2	0	IL34	69245990	0.998000	0.40836	0.996000	0.52242	0.020000	0.10135	0.691000	0.25467	0.715000	0.32103	0.374000	0.22700	ATG		0.567	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		26	30	0	0	0	1	0	26	30					C	70688489	T	C	70688489	3	2	128	1	0	0	0	0	1	0	0	0	7694	1464	51	4	83	4	IL34	16	70688489	Missense_Mutation	SNP	T	TCGA-TT-A6YJ-01A-11D-A35I-08		70688489	19666264	8	2305										
SREBF1	6720	broad.mit.edu	37	chr17	17718150	17718152	+	Splice_Site	DEL	GGT	GGT	-													0	0	1	0	NA	0	1	1	0	acaggggccggggactcaccGgtggtggtggccatgctgga					rs143021204		TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr17:17718150_17718152delGGT	ENST00000261646.5	-	14	2783_2785	c.2599_2601delACC	c.(2599-2601)accdel	p.T867del	SREBF1_ENST00000395757.1_Splice_Site_p.T613del|SREBF1_ENST00000355815.4_Splice_Site_p.T897del|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Splice_Site_p.T867del	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	867					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGACTCACCGGTGGTGGTGGCC	0.655																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.e15+1		sterol regulatory element binding transcription factor 1																																				SO:0001630	splice_region_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17718150_17718152delGGT	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2602+1ACC>-	17.37:g.17718156_17718158delGGT						SREBF1_ENST00000395757.1_Splice_Site_p.T613_splice|SREBF1_ENST00000338854.5_Splice_Site_p.T867_splice|SREBF1_ENST00000261646.5_Splice_Site_p.T867_splice	p.T897_splice	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			15	2858_2860	-			867					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Splice_Site	DEL	ENST00000261646.5	37	c.2692_splice	CCDS11189.1																																																																																				0.655	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176	In_Frame_Del	2	4						2	4	---	---	---	---	-	17718152	GGT	-	17718150	8	5	128	1	0	1	0	1	0	0	1	0	15140	1130	39	0	866	0	SREBF1	17	17718150	Splice_Site	DEL	GGT	TCGA-TT-A6YJ-01A-11D-A35I-08		17718150	63477060	9	2306										
ANKRD30B	374860	broad.mit.edu	37	chr18	14852025	14852025	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agctcaaaggaaatccaaaaGcccaaaaattaatctcaatt	4	9	2	0			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr18:14852025G>T	ENST00000358984.4	+	36	3905	c.3725G>T	c.(3724-3726)aGc>aTc	p.S1242I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1242										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAATCCAAAAGCCCAAAAATT	0.363																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3724-3726)aGc>aTc		ankyrin repeat domain 30B							9	9	9					18																	14852025		690	1580	2270	SO:0001583	missense	374860							g.chr18:14852025G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3725G>T	18.37:g.14852025G>T	ENSP00000351875:p.Ser1242Ile						p.S1242I	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			36	3905	+			1327					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3725G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	G	7.110	0.575865	0.13623	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.17054	2.3	1.39	-1.8	0.07907	.	.	.	.	.	T	0.19167	0.0460	M	0.71206	2.165	0.80722	D	1	P;D	0.62365	0.914;0.991	B;P	0.47102	0.198;0.537	T	0.18935	-1.0321	9	0.62326	D	0.03	.	3.6651	0.08253	0.2381:0.2329:0.529:0.0	.	1327;1242	Q9BXX2;F8WAG3	AN30B_HUMAN;.	I	1242;636;662	ENSP00000351875:S1242I	ENSP00000277669:S662I	S	+	2	0	ANKRD30B	14842025	0.020000	0.18652	0.207000	0.23584	0.132000	0.20833	0.093000	0.15086	-0.515000	0.06479	0.173000	0.16961	AGC		0.363	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	6	1	0	0.27861	1	0.27861	7	6					T	14852025	G	T	14852025	3	4	128	1	0	0	0	0	1	0	0	0	659	971	34	5	3867	5	ANKRD30B	18	14852025	Missense_Mutation	SNP	G	TCGA-TT-A6YJ-01A-11D-A35I-08		14852025	63225223	10	2307										
IL2RB	3560	broad.mit.edu	37	chr22	37538550	37538550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcacaggtttggttccacCgcctttcatggcaaaagacc	9	13	2	1			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr22:37538550C>T	ENST00000216223.5	-	4	404	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	69					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGGTTCCACCGCCTTTCATG	0.577																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(205-207)cGg>cAg		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						85	81	83					22																	37538550		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37538550C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.206G>A	22.37:g.37538550C>T	ENSP00000216223:p.Arg69Gln						p.R69Q	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			4	404	-			69					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.206G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	c	6.394	0.440885	0.12104	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	4.86	-4.43	0.03568	Fibronectin, type III (1);	26.198000	0.00166	N	0.000007	D	0.89413	0.6708	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	D	0.85038	0.0921	10	0.11794	T	0.64	.	8.1845	0.31330	0.0:0.2531:0.2358:0.5111	.	69	P14784	IL2RB_HUMAN	Q	69	ENSP00000216223:R69Q;ENSP00000403731:R69Q;ENSP00000402685:R69Q;ENSP00000401020:R69Q	ENSP00000216223:R69Q	R	-	2	0	IL2RB	35868496	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.231000	0.02939	-1.076000	0.03125	-0.319000	0.08680	CGG		0.577	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			6	54	0	0	0	1	0	6	54					T	37538550	C	T	37538550	3	4	128	1	0	0	0	0	1	0	0	0	7687	652	23	2	1477	2	IL2RB	22	37538550	Missense_Mutation	SNP	C	TCGA-TT-A6YJ-01A-11D-A35I-08		37538550	13766016	11	2308										
FLG	2312	broad.mit.edu	37	chr1	152280504	152280504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatgaccggctctgtcttcGtgatgggacctggggtgtct	14	11	3	2	rs141571186		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr1:152280504G>A	ENST00000368799.1	-	3	6893	c.6858C>T	c.(6856-6858)caC>caT	p.H2286H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCGTGATGGGACC	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6856-6858)caC>caT		filaggrin							256	261	259					1																	152280504		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280504G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6858C>T	1.37:g.152280504G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H2286H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6893	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2286			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6858C>T	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	322	0	0	0	1	0	7	322					A	152280504	G	A	152280504	2	1	129	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152280504	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		152280504	96970117	1	2309										
CYP21A2	1590	broad.mit.edu	37	chr6	31975463	31975463	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cccagattcagcagcgactgTaggaggagctagaccacgaa	12	11	1	2	rs370433041	byFrequency	TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	1590						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	7	0	0	0	1	0	3	7					C	31975463	T	C	31975463	1	2	129	0	1	0	0	0	0	0	0	0	4153	1651	57	4		4	CYP21A2	6	31975463	5'Flank	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		31975463	139139604	2	2310										
XPO7	23039	broad.mit.edu	37	chr8	21827087	21827087	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaacagcgaatagatattCgtaagtggagaattttctgt	11	4	1	2			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr8:21827087C>A	ENST00000252512.9	+	3	359	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	XPO7_ENST00000434536.1_Splice_Site_p.R87R|XPO7_ENST00000433566.4_Splice_Site_p.R88R|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	87	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AATAGATATTCGTAAGTGGAG	0.398																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e3+1		exportin 7							79	75	76					8																	21827087		1856	4105	5961	SO:0001630	splice_region_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21827087C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.259+1C>A	8.37:g.21827087C>A						XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Splice_Site_p.R87_splice|XPO7_ENST00000433566.4_Splice_Site_p.R88_splice	p.R87_splice			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	3	361	+			87			Importin N-terminal.		O94846|Q6PJK9|Q8NEK7	Splice_Site	SNP	ENST00000252512.9	37	c.259_splice	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316939	0.60524	.	.	ENSG00000130227	ENST00000521303	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72947	-0.4137	4	.	.	.	-16.741	19.3771	0.94514	0.0:1.0:0.0:0.0	.	.	.	.	L	91	.	.	F	+	3	2	XPO7	21883033	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.347000	0.79356	2.753000	0.94483	0.591000	0.81541	TTC		0.398	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Silent	3	9	1	0	6.4e-05	1	7.31429e-05	3	9					A	21827087	C	A	21827087	5	1	129	1	0	0	0	0	0	0	1	0	17446	898	31	5	294	5	XPO7	8	21827087	Splice_Site	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		21827087	124536935	3	2311										
GFI1B	8328	broad.mit.edu	37	chr9	135866270	135866270	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccctgcaggtgagaagccgCacaagtgccaggtgtgcgga	15	11	0	1			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr9:135866270C>A	ENST00000339463.3	+	11	1645	c.826C>A	c.(826-828)Cac>Aac	p.H276N	GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N|GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N|GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	276	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TGAGAAGCCGCACAAGTGCCA	0.652																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(826-828)Cac>Aac		growth factor independent 1B transcription repressor							64	56	59					9																	135866270		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866270C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"Zinc fingers, C2H2-type"	4238	protein-coding gene	gene with protein product		604383	"growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.826C>A	9.37:g.135866270C>A	ENSP00000344782:p.His276Asn					GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N	p.H276N			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1645	+			276			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.826C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253435	0.80135	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	M	0.77820	2.39	0.80722	D	1	D;P	0.54207	0.965;0.925	D;P	0.64595	0.927;0.9	T	0.51957	-0.8639	10	0.72032	D	0.01	-21.2754	17.4238	0.87521	0.0:1.0:0.0:0.0	.	230;276	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	N	230;276;276;230;230;276	ENSP00000361197:H230N;ENSP00000344782:H276N;ENSP00000409546:H276N;ENSP00000446134:H230N;ENSP00000361196:H230N;ENSP00000361195:H276N	ENSP00000344782:H276N	H	+	1	0	GFI1B	134856091	1.000000	0.71417	0.950000	0.38849	0.783000	0.44284	7.776000	0.85560	2.425000	0.82216	0.462000	0.41574	CAC		0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		7	27	1	0	0.000157383	1	0.000173664	7	27					A	135866270	C	A	135866270	3	1	129	1	0	0	0	0	1	0	0	0	6340	710	25	5	848	5	GFI1B	9	135866270	Missense_Mutation	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		135866270	5347161	4	2312										
NEURL	9148	broad.mit.edu	37	chr10	105331472	105331472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagggccgtgtcttccaccGcatcaacgactcggctgtta	11	13	2	0	rs575166034		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr10:105331472G>A	ENST00000369780.4	+	3	951	c.542G>A	c.(541-543)cGc>cAc	p.R181H	NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.R164H	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		181	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTCTTCCACCGCATCAACGAC	0.637													g|||	1	0.000199681	0	0	5008	,	,		20656	0		0	False		,,,				2504	0.001					ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(541-543)cGc>cAc									174	115	135					10																	105331472		2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331472G>A																												ENST00000369780.4:c.542G>A	10.37:g.105331472G>A	ENSP00000358795:p.Arg181His					NEURL_ENST00000369777.2_Missense_Mutation_p.R164H|NEURL_ENST00000465048.1_3'UTR	p.R181H	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	951	+			181			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.542G>A	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130257	0.77549	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	T;T	0.29917	1.55;1.55	5.64	5.64	0.86602	NEUZ (2);	0.050581	0.85682	D	0.000000	T	0.42675	0.1213	L	0.46741	1.465	0.80722	D	1	D	0.71674	0.998	P	0.56612	0.802	T	0.05354	-1.0890	10	0.16896	T	0.51	-31.6928	18.6966	0.91603	0.0:0.0:1.0:0.0	.	181	O76050	NEU1A_HUMAN	H	181;164;164;106	ENSP00000358795:R181H;ENSP00000358792:R164H	ENSP00000358792:R164H	R	+	2	0	NEURL	105321462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.007000	0.88571	2.648000	0.89879	0.561000	0.74099	CGC		0.637	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			4	58	0	0	0	1	0	4	58					A	105331472	G	A	105331472	3	1	129	1	0	0	0	0	1	0	0	0	10345	1087	38	1	552	1	NEURL	10	105331472	Missense_Mutation	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		105331472	30203275	5	2313										
PLEKHA7	144100	broad.mit.edu	37	chr11	16863161	16863161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgacccaagcgttcatgtCctcctgggtgtcggcactga	11	14	1	2			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr11:16863161C>A	ENST00000355661.3	-	9	815	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D269Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	269	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGTTCATGTCCTCCTGGGTG	0.592																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(805-807)Gac>Tac		pleckstrin homology domain containing, family A member 7							137	114	122					11																	16863161		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863161C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.805G>T	11.37:g.16863161C>A	ENSP00000347883:p.Asp269Tyr					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y	p.D269Y			Q6IQ23	PKHA7_HUMAN			9	815	-			269			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.805G>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731228	0.89390	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.16073	2.37;2.37;2.37	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.140286	0.64402	D	0.000007	T	0.56093	0.1962	H	0.95574	3.69	0.80722	D	1	D;D	0.61080	0.989;0.98	D;P	0.69307	0.963;0.834	T	0.69573	-0.5109	10	0.87932	D	0	-33.9177	19.2366	0.93862	0.0:1.0:0.0:0.0	.	269;269	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	Y	269	ENSP00000435389:D269Y;ENSP00000347883:D269Y;ENSP00000416895:D269Y	ENSP00000347883:D269Y	D	-	1	0	PLEKHA7	16819737	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.198000	0.77823	2.857000	0.98124	0.650000	0.86243	GAC		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		6	28	1	0	0.0293803	1	0.0293803	6	28					A	16863161	C	A	16863161	3	1	129	1	0	0	0	0	1	0	0	0	12061	855	30	5	2620	5	PLEKHA7	11	16863161	Missense_Mutation	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		16863161	118143355	6	2314										
IGSF9B	22997	broad.mit.edu	37	chr11	133796909	133796909	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtctcaggctccagggtgTccaccagcagccagctgggt	13	14	1	0			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr11:133796909T>A	ENST00000321016.8	-	13	1939	c.1709A>T	c.(1708-1710)gAc>gTc	p.D570V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D570V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	570	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCCAGGGTGTCCACCAGCAG	0.602																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1708-1710)gAc>gTc		immunoglobulin superfamily, member 9B							20	25	23					11																	133796909		2090	4201	6291	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133796909T>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1709A>T	11.37:g.133796909T>A	ENSP00000317980:p.Asp570Val					IGSF9B_ENST00000533871.2_Missense_Mutation_p.D570V	p.D570V			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	13	1939	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	570			Fibronectin type-III 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1709A>T		.	.	.	.	.	.	.	.	.	.	T	14.49	2.550102	0.45383	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.56776	0.44;0.44;0.44	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41026	0.1141	N	0.12443	0.215	0.58432	D	0.999999	B	0.20164	0.042	B	0.34346	0.18	T	0.29761	-1.0001	9	0.21014	T	0.42	.	16.1502	0.81611	0.0:0.0:0.0:1.0	.	570	Q9UPX0	TUTLB_HUMAN	V	570;412;570	ENSP00000317980:D570V;ENSP00000436552:D412V;ENSP00000436576:D570V	ENSP00000317980:D570V	D	-	2	0	IGSF9B	133302119	1.000000	0.71417	0.943000	0.38184	0.956000	0.61745	5.203000	0.65174	2.224000	0.72417	0.533000	0.62120	GAC		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		8	5	0	0	0	1	0	8	5					A	133796909	T	A	133796909	3	1	129	1	0	0	0	0	1	0	0	0	7606	1667	58	5	2368	5	IGSF9B	11	133796909	Missense_Mutation	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08	116933748	133796909	1209607	7	2315										
STAC3	246329	broad.mit.edu	37	chr12	57642948	57642948	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctcctcctcctcctcttcTtcctcttcctcttcctcata	2	20	5	0			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr12:57642948T>C	ENST00000332782.2	-	3	411	c.210A>G	c.(208-210)gaA>gaG	p.E70E	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Silent_p.E31E	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	70	Poly-Glu.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						cctcctcttcttcctcttcct	0.542																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(208-210)gaA>gaG		SH3 and cysteine rich domain 3							59	60	59					12																	57642948		2203	4300	6503	SO:0001819	synonymous_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642948T>C	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.210A>G	12.37:g.57642948T>C						STAC3_ENST00000554578.1_Silent_p.E31E|STAC3_ENST00000546246.2_Intron	p.E70E	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			3	411	-			70			Poly-Glu.		B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	c.210A>G	CCDS8936.1																																																																																				0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		3	40	0	0	0	1	0	3	40					C	57642948	T	C	57642948	2	2	129	1	0	0	0	0	0	0	0	1	15240	1606	56	4		4	STAC3	12	57642948	Silent	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		57642948	76208947	8	2316										
SETDB2	83852	broad.mit.edu	37	chr13	50055170	50055170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggtcctcaagtgaggttacaGgtgttcaaaactgagcagaa	12	7	2	3			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr13:50055170G>A	ENST00000317257.8	+	9	1935	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	SETDB2_ENST00000354234.4_Silent_p.Q358Q|SETDB2_ENST00000258672.5_Silent_p.Q358Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	370	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGAGGTTACAGGTGTTCAAAA	0.398																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1072-1074)caG>caA		SET domain, bifurcated 2							175	150	159					13																	50055170		2203	4300	6503	SO:0001819	synonymous_variant	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50055170G>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1110G>A	13.37:g.50055170G>A						SETDB2_ENST00000317257.8_Silent_p.Q370Q|SETDB2_ENST00000258672.5_Silent_p.Q358Q	p.Q358Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	8	1980	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	370			Pre-SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	ENST00000317257.8	37	c.1074G>A	CCDS9417.1																																																																																				0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		12	95	0	0	0	1	0	12	95					A	50055170	G	A	50055170	2	1	129	1	0	0	0	0	0	0	0	1	14139	991	35	3		3	SETDB2	13	50055170	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		50055170	65114708	9	2317										
PCNX	22990	broad.mit.edu	37	chr14	71570317	71570317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctgacagccacgaacagcTtaaagacattcttgggggtc	10	11	2	2			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr14:71570317T>G	ENST00000304743.2	+	32	6472	c.6026T>G	c.(6025-6027)cTt>cGt	p.L2009R	PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R|PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2009						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CACGAACAGCTTAAAGACATT	0.453																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(6025-6027)cTt>cGt		pecanex homolog (Drosophila)							111	109	109					14																	71570317		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71570317T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6026T>G	14.37:g.71570317T>G	ENSP00000304192:p.Leu2009Arg					PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R	p.L2009R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	32	6472	+			2009					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6026T>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.534679|4.534679	0.85812|0.85812	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|T	0.52983|0.48836	0.64;0.64;0.64|0.8	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.69223|0.69223	0.3087|0.3087	M|M	0.86178|0.86178	2.8|2.8	0.41269|0.41269	D|D	0.986839|0.986839	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.99;0.997|.	T|T	0.74312|0.74312	-0.3706|-0.3706	10|7	0.87932|.	D|.	0|.	.|.	15.693|15.693	0.77469|0.77469	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1937;1898;2009|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	R|V	2009;1937;1898|996	ENSP00000304192:L2009R;ENSP00000238570:L1937R;ENSP00000396617:L1898R|ENSP00000451016:L996V	ENSP00000238570:L1937R|.	L|L	+|+	2|1	0|2	PCNX|PCNX	70640070|70640070	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.949000|0.949000	0.60115|0.60115	7.698000|7.698000	0.84413|0.84413	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	CTT|TTA		0.453	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	56	0	0	0	1	0	4	56					G	71570317	T	G	71570317	3	3	129	1	0	0	0	0	1	0	0	0	11591	1609	56	5	6152	5	PCNX	14	71570317	Missense_Mutation	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		71570317	35779223	10	2318										
NKD1	85407	broad.mit.edu	37	chr16	50667639	50667641	+	In_Frame_Del	DEL	CAC	CAC	-													0	0	1	0	0	0	1	1	0	agccggtccagagacatgagCaccaccaccaccatgaacat							TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr16:50667639_50667641delCAC	ENST00000268459.3	+	10	1584_1586	c.1360_1362delCAC	c.(1360-1362)cacdel	p.H458del		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	458	His-rich.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGACATGAGcaccaccaccacc	0.655																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1360-1362)del		naked cuticle homolog 1 (Drosophila)				10,3458		0,10,1724						-2.2	1			25	29,7075		0,29,3523	no	coding	NKD1	NM_033119.4		0,39,5247	A1A1,A1R,RR		0.4082,0.2884,0.3689				39,10533				SO:0001651	inframe_deletion	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667639_50667641delCAC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1360_1362delCAC	16.37:g.50667648_50667650delCAC	ENSP00000268459:p.His458del						p.H458del	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1584_1586	+		all_cancers(37;0.229)	458			His-rich.		B2RC39|Q8WZ08	In_Frame_Del	DEL	ENST00000268459.3	37	c.1360_1362delCAC	CCDS10743.1																																																																																				0.655	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			2	4						2	4	---	---	---	---	-	50667641	CAC	-	50667639	7	5	129	1	0	1	0	1	0	0	0	0	10441	710	25	0	1398	0	NKD1	16	50667639	In_Frame_Del	DEL	CAC	TCGA-TT-A6YK-01A-11D-A35I-08		50667639	39687114	11	2319										
NFATC1	4772	broad.mit.edu	37	chr18	77170440	77170440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctccaacgtcagccccgcCctgccgctccccacggcgca	8	23	1	0			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr18:77170440C>T	ENST00000427363.2	+	2	165	c.165C>T	c.(163-165)gcC>gcT	p.A55A	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000591814.1_Silent_p.A55A|NFATC1_ENST00000329101.4_Silent_p.A42A|NFATC1_ENST00000587635.1_Silent_p.A55A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.A55A|NFATC1_ENST00000318065.5_Silent_p.A42A|NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000592223.1_Silent_p.A42A			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	55					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TCAGCCCCGCCCTGCCGCTCC	0.632																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(163-165)gcC>gcT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							69	80	76					18																	77170440		2203	4300	6503	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170440C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.165C>T	18.37:g.77170440C>T						NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000329101.4_Silent_p.A42A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000427363.2_Silent_p.A55A|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.A55A|NFATC1_ENST00000318065.5_Silent_p.A42A|NFATC1_ENST00000592223.1_Silent_p.A42A|NFATC1_ENST00000591814.1_Silent_p.A55A	p.A55A	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	534	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	55					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.165C>T																																																																																					0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		5	80	0	0	0	1	0	5	80					T	77170440	C	T	77170440	2	4	129	1	0	0	0	0	0	0	0	1	10361	610	22	3		3	NFATC1	18	77170440	Silent	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08		77170440	906808	12	2320										
LILRA4	23547	broad.mit.edu	37	chr19	54848254	54848254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctggtacttatgagctccGtacattgatctcagacgcaa	9	11	1	3			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:54848254G>A	ENST00000291759.4	-	6	1169	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	371	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TATGAGCTCCGTACATTGATC	0.587																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1111-1113)taC>taT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							170	154	160					19																	54848254		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848254G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1113C>T	19.37:g.54848254G>A						AC008984.2_ENST00000507363.1_RNA	p.Y371Y	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1169	-	Ovarian(34;0.19)		371			Ig-like C2-type 4.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.1113C>T	CCDS12890.1																																																																																				0.587	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		9	85	0	0	0	1	0	9	85					A	54848254	G	A	54848254	2	1	129	1	0	0	0	0	0	0	0	1	8787	1140	40	1		1	LILRA4	19	54848254	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		54848254	4280729	13	2321										
ZNF8	7554	broad.mit.edu	37	chr19	58797161	58797161	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggaccctacccagaggatcCtctaccgtgacgtgatgctg	11	13	1	3			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:58797161C>A	ENST00000196548.5	+	2	276	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.L49I|CTD-3138B18.4_ENST00000600029.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CCAGAGGATCCTCTACCGTGA	0.537																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(145-147)Ctc>Atc		zinc finger protein 8							182	166	171					19																	58797161		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58797161C>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"Zinc fingers, C2H2-type", "-"	13154	protein-coding gene	gene with protein product		194532	"zinc finger protein 8 (clone HF.18)"			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.145C>A	19.37:g.58797161C>A	ENSP00000196548:p.Leu49Ile					CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR	p.L49I	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	2	276	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	49			KRAB.		Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.145C>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464016	0.63513	.	.	ENSG00000083842	ENST00000196548	T	0.05081	3.5	4.12	4.12	0.48240	Krueppel-associated box (4);	0.000000	0.34268	N	0.004115	T	0.26846	0.0657	M	0.91872	3.25	0.25112	N	0.990706	D	0.61697	0.99	D	0.64877	0.93	T	0.11372	-1.0590	10	0.87932	D	0	-26.5681	9.4557	0.38753	0.2117:0.7883:0.0:0.0	.	49	P17098	ZNF8_HUMAN	I	49	ENSP00000196548:L49I	ENSP00000196548:L49I	L	+	1	0	ZNF8	63488973	0.656000	0.27385	0.927000	0.36925	0.832000	0.47134	1.822000	0.39052	2.281000	0.76405	0.561000	0.74099	CTC		0.537	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		4	78	1	0	0.00909568	1	0.00938909	4	78					A	58797161	C	A	58797161	3	1	129	1	0	0	0	0	1	0	0	0	18164	681	24	5	151	5	ZNF8	19	58797161	Missense_Mutation	SNP	C	TCGA-TT-A6YK-01A-11D-A35I-08	3948907	58797161	331822	14	2322										
DIDO1	11083	broad.mit.edu	37	chr20	61542656	61542656	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgtctcggcgtctgtggcGgggcaggacgtgggctcacc	18	12	3	0			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr20:61542656G>C	ENST00000266070.4	-	3	634	c.309C>G	c.(307-309)ccC>ccG	p.P103P	DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	103					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTCTGTGGCGGGGCAGGACG	0.662																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(307-309)ccC>ccG		death inducer-obliterator 1							25	23	24					20																	61542656		2195	4288	6483	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542656G>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.309C>G	20.37:g.61542656G>C						DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P	p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	634	-	Breast(26;5.68e-08)		103					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.309C>G	CCDS33506.1																																																																																				0.662	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		15	19	0	0	0	1	0	15	19					C	61542656	G	C	61542656	2	2	129	1	0	0	0	0	0	0	0	1	4522	1103	39	5		5	DIDO1	20	61542656	Silent	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08		61542656	1482864	15	2323										
PMM1	5372	broad.mit.edu	37	chr22	41980004	41980004	+	Missense_Mutation	SNP	A	A	T													0	0	1	0	0	0	1	1	0	gatcctctcctccagggtgcAgctccggccgatgggcgaga							TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:41980004A>T	ENST00000216259.7	-	5	517	c.433T>A	c.(433-435)Tgc>Agc	p.C145S	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	145					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCCAGGGTGCAGCTCCGGCCG	0.567																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(433-435)Tgc>Agc		phosphomannomutase 1							117	102	107					22																	41980004		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980004A>T		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.433T>A	22.37:g.41980004A>T	ENSP00000216259:p.Cys145Ser					PMM1_ENST00000466645.1_5'UTR	p.C145S	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			5	517	-			145					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.433T>A	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	35	5.444568	0.96187	.	.	ENSG00000100417	ENST00000216259	D	0.98567	-5.0	5.41	5.41	0.78517	HAD-like domain (1);	0.133103	0.64402	D	0.000001	D	0.98381	0.9462	M	0.93328	3.405	0.80722	D	1	P	0.46457	0.878	B	0.43575	0.424	D	0.99157	1.0860	10	0.66056	D	0.02	-12.5688	15.4426	0.75200	1.0:0.0:0.0:0.0	.	145	Q92871	PMM1_HUMAN	S	145	ENSP00000216259:C145S	ENSP00000216259:C145S	C	-	1	0	PMM1	40309950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.196000	0.94978	2.052000	0.61016	0.460000	0.39030	TGC		0.567	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		9	59	0	0	0	1	0	9	59					T	41980004	A	T	41980004	3	4	129	1	0	0	0	0	1	0	0	0	12136	188	7	5	371	5	PMM1	22	41980004	Missense_Mutation	SNP	A	TCGA-TT-A6YK-01A-11D-A35I-08		41980004	9324562	16	2324	17	2								
PMM1	5372	broad.mit.edu	37	chr22	41980005	41980005	+	Missense_Mutation	SNP	G	G	C													0	0	1	0	0	0	1	1	0	atcctctcctccagggtgcaGctccggccgatgggcgagat							TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:41980005G>C	ENST00000216259.7	-	5	516	c.432C>G	c.(430-432)agC>agG	p.S144R	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	144					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCAGGGTGCAGCTCCGGCCGA	0.567																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(430-432)agC>agG		phosphomannomutase 1							117	103	108					22																	41980005		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980005G>C		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.432C>G	22.37:g.41980005G>C	ENSP00000216259:p.Ser144Arg					PMM1_ENST00000466645.1_5'UTR	p.S144R	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			5	516	-			144					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.432C>G	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504497	0.96371	.	.	ENSG00000100417	ENST00000216259	D	0.98362	-4.89	5.41	5.41	0.78517	HAD-like domain (1);	0.265426	0.50627	D	0.000104	D	0.97688	0.9242	M	0.80508	2.5	0.80722	D	1	P	0.47034	0.889	B	0.40864	0.342	D	0.98352	1.0544	10	0.52906	T	0.07	-20.4761	19.1954	0.93686	0.0:0.0:1.0:0.0	.	144	Q92871	PMM1_HUMAN	R	144	ENSP00000216259:S144R	ENSP00000216259:S144R	S	-	3	2	PMM1	40309951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.871000	0.87180	2.537000	0.85549	0.563000	0.77884	AGC		0.567	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		9	59	0	0	0	1	0	9	59					C	41980005	G	C	41980005	3	2	129	1	0	0	0	0	1	0	0	0	12136	962	34	5	372	5	PMM1	22	41980005	Missense_Mutation	SNP	G	TCGA-TT-A6YK-01A-11D-A35I-08	1	41980005	9324561	17	2325	17	2								
TEX11	56159	broad.mit.edu	37	chrX	69825319	69825319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactgccataagtaaacatgTtttccgtgcaatcagaatta	6	8	1	1			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chrX:69825319T>C	ENST00000395889.2	-	25	2199	c.2044A>G	c.(2044-2046)Aca>Gca	p.T682A	TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000344304.3_Missense_Mutation_p.T682A|TEX11_ENST00000374320.2_Missense_Mutation_p.T357A	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	682					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAAACATGTTTTCCGTGCA	0.393																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2044-2046)Aca>Gca		testis expressed 11							120	100	107					X																	69825319		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69825319T>C	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2044A>G	X.37:g.69825319T>C	ENSP00000379226:p.Thr682Ala					TEX11_ENST00000374320.2_Missense_Mutation_p.T357A|TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000344304.3_Missense_Mutation_p.T682A	p.T682A	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			25	2199	-	Renal(35;0.156)		682					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2044A>G	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127669	0.37533	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.83	3.63	0.41609	.	0.135266	0.48767	D	0.000170	T	0.43411	0.1246	L	0.55834	1.745	0.24834	N	0.992507	B;B	0.32467	0.172;0.372	B;B	0.33799	0.134;0.17	T	0.31166	-0.9953	9	.	.	.	-5.4697	6.4189	0.21732	0.0:0.1146:0.0:0.8854	.	667;682	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	A	667;682;357;682	ENSP00000363453:T667A;ENSP00000379226:T682A;ENSP00000363440:T357A;ENSP00000340995:T682A	.	T	-	1	0	TEX11	69742044	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.366000	0.44204	1.794000	0.52575	0.441000	0.28932	ACA		0.393	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			10	21	0	0	0	1	0	10	21					C	69825319	T	C	69825319	3	2	129	1	0	0	0	0	1	0	0	0	15771	1725	60	4	806	4	TEX11	23	69825319	Missense_Mutation	SNP	T	TCGA-TT-A6YK-01A-11D-A35I-08		69825319	85445241	18	2326										
TPR	7175	broad.mit.edu	37	chr1	186315295	186315295	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	ccatgctctctatggctcttCttttatcatcctgaagttct	5	12	5	1			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr1:186315295C>T	ENST00000367478.4	-	23	3364	c.3068G>A	c.(3067-3069)aGa>aAa	p.R1023K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1023					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TATGGCTCTTCTTTTATCATC	0.323			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(3067-3069)aGa>aAa		translocated promoter region, nuclear basket protein							245	209	220					1																	186315295		1843	4097	5940	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186315295C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3068G>A	1.37:g.186315295C>T	ENSP00000356448:p.Arg1023Lys						p.R1023K	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	23	3364	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1023					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3068G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896811	0.33535	.	.	ENSG00000047410	ENST00000367478	T	0.22134	1.97	5.66	5.66	0.87406	Prefoldin (1);	0.155529	0.53938	D	0.000044	T	0.10078	0.0247	N	0.12182	0.205	0.26018	N	0.981908	B	0.19583	0.037	B	0.09377	0.004	T	0.24941	-1.0146	10	0.02654	T	1	.	12.0987	0.53769	0.0:0.9221:0.0:0.0779	.	1023	P12270	TPR_HUMAN	K	1023	ENSP00000356448:R1023K	ENSP00000356448:R1023K	R	-	2	0	TPR	184581918	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.479000	0.45197	2.645000	0.89757	0.650000	0.86243	AGA		0.323	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		15	42	0	0	0	1	0	15	42					T	186315295	C	T	186315295	3	4	130	1	0	0	0	0	1	0	0	0	16413	913	32	3	4139	3	TPR	1	186315295	Missense_Mutation	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08		186315295	62935326	1	2327										
PPP1R12B	4660	broad.mit.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T													0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																						ENST00000480184.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1495-1497)tttfs		protein phosphatase 1, regulatory subunit 12B																																				SO:0001627	intron_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202407189_202407190insT	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT						PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron	p.F499fs	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1627_1628	+			499					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	ENST00000608999.1	37	c.1495_1496insT	CCDS1426.1																																																																																				0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		7	35						7	35	---	---	---	---	T	202407190	-	T	202407189	6	5	130	0	1	1	1	0	0	0	0	0	12355	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-TT-A6YN-01A-12D-A35I-08	16091894	202407189	46843432	2	2328										
LIPT1	51601	broad.mit.edu	37	chr2	99778810	99778810	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	tatgatagaatggaaaatctGaaattaattgtgagagctct	9	3	2	4			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr2:99778810G>A	ENST00000393473.2	+	3	614	c.390G>A	c.(388-390)ctG>ctA	p.L130L	LIPT1_ENST00000393471.2_Silent_p.L130L|LIPT1_ENST00000393474.3_Silent_p.L130L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Silent_p.L130L|LIPT1_ENST00000393477.3_Silent_p.L130L	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	130	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TGGAAAATCTGAAATTAATTG	0.383																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(388-390)ctG>ctA		lipoyltransferase 1	Lipoic Acid(DB00166)						53	53	53					2																	99778810		2203	4300	6503	SO:0001819	synonymous_variant	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778810G>A	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.390G>A	2.37:g.99778810G>A						LIPT1_ENST00000393474.3_Silent_p.L130L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393473.2_Silent_p.L130L|LIPT1_ENST00000393471.2_Silent_p.L130L|LIPT1_ENST00000340066.1_Silent_p.L130L	p.L130L	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN			4	742	+			130					Q4ZFZ1	Silent	SNP	ENST00000393473.2	37	c.390G>A	CCDS2039.1																																																																																				0.383	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		5	70	0	0	0	1	0	5	70					A	99778810	G	A	99778810	2	1	130	1	0	0	0	0	0	0	0	1	8829	1277	45	3		3	LIPT1	2	99778810	Silent	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		99778810	143420563	3	2329										
ITIH1	3697	broad.mit.edu	37	chr3	52819188	52819188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	ggctcagagattgtggtggcCgggcgcattgctgacaacaa	15	9	1	2	rs368547088		TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr3:52819188C>T	ENST00000273283.2	+	12	1560	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	ITIH1_ENST00000542827.1_Silent_p.A512A|ITIH1_ENST00000540715.1_Silent_p.A370A|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Silent_p.A224A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	512	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTGTGGTGGCCGGGCGCATTG	0.577													C|||	1	0.000199681	0	0	5008	,	,		18903	0		0	False		,,,				2504	0.001					ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1534-1536)gcC>gcT		inter-alpha-trypsin inhibitor heavy chain 1		C	,,,	0,4406		0,0,2203	134	124	127		1110,672,672,1536	-4.5	1	3		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ITIH1	NM_001166434.1,NM_001166435.1,NM_001166436.1,NM_002215.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	370/770,224/624,224/624,512/912	52819188	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52819188C>T		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1536C>T	3.37:g.52819188C>T						ITIH1_ENST00000542827.1_Silent_p.A512A|ITIH1_ENST00000540715.1_Silent_p.A370A|ITIH1_ENST00000537050.1_Silent_p.A224A	p.A512A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1560	+			512			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.1536C>T	CCDS2864.1																																																																																				0.577	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		4	84	0	0	0	1	0	4	84					T	52819188	C	T	52819188	2	4	130	1	0	0	0	0	0	0	0	1	7903	639	23	2		2	ITIH1	3	52819188	Silent	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08		52819188	145203242	4	2330										
TUBE1	51175	broad.mit.edu	37	chr6	112397154	112397154	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	aattacctcgttaggttgagGagcaaatttgccacaatgtt	9	7	0	1			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr6:112397154G>A	ENST00000368662.5	-	8	876	c.798C>T	c.(796-798)ctC>ctT	p.L266L	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	266					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TTAGGTTGAGGAGCAAATTTG	0.353																																						ENST00000368662.5																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(796-798)ctC>ctT		tubulin, epsilon 1							114	120	118					6																	112397154		2203	4300	6503	SO:0001819	synonymous_variant	51175				centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton	g.chr6:112397154G>A	AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.798C>T	6.37:g.112397154G>A						TUBE1_ENST00000604814.1_5'UTR	p.L266L	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	8	876	-		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)	266					Q5H8W8|Q8NEG3	Silent	SNP	ENST00000368662.5	37	c.798C>T	CCDS5100.1																																																																																				0.353	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262		51	78	0	0	0	1	0	51	78					A	112397154	G	A	112397154	2	1	130	1	0	0	0	0	0	0	0	1	16760	1161	41	3		3	TUBE1	6	112397154	Silent	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		112397154	58717913	5	2331										
PLG	5340	broad.mit.edu	37	chr6	161137789	161137789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	gggaactttgtgacatccccCgctgcagtgagtatgatgca	12	10	0	3			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr6:161137789C>T	ENST00000308192.9	+	7	844	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	261	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.		R -> H (in dbSNP:rs4252187). {ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGACATCCCCCGCTGCAGTGA	0.522																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(781-783)Cgc>Tgc		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						62	59	60					6																	161137789		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161137789C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.781C>T	6.37:g.161137789C>T	ENSP00000308938:p.Arg261Cys						p.R261C	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	7	844	+			261		R -> H (in dbSNP:rs4252187).	Kringle 2.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.781C>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711072	0.68730	.	.	ENSG00000122194	ENST00000308192	T	0.68181	-0.31	5.2	4.31	0.51392	Kringle (4);Kringle-like fold (1);	0.000000	0.36234	U	0.002703	T	0.81721	0.4882	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	D	0.87031	0.2135	10	0.87932	D	0	.	13.9385	0.64041	0.1673:0.8327:0.0:0.0	.	261	P00747	PLMN_HUMAN	C	261	ENSP00000308938:R261C	ENSP00000308938:R261C	R	+	1	0	PLG	161057779	0.997000	0.39634	1.000000	0.80357	0.463000	0.32649	3.589000	0.53972	1.257000	0.44085	0.563000	0.77884	CGC		0.522	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		3	42	0	0	0	1	0	3	42					T	161137789	C	T	161137789	3	4	130	1	0	0	0	0	1	0	0	0	12086	652	23	2	811	2	PLG	6	161137789	Missense_Mutation	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08	48740635	161137789	9977278	6	2332										
SDK1	221935	broad.mit.edu	37	chr7	4009006	4009006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	cggcaactacacctgctatgCggccaacacagagggctccc	10	16	0	1	rs571793069	byFrequency	TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr7:4009006C>T	ENST00000404826.2	+	11	1803	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	SDK1_ENST00000389531.3_Missense_Mutation_p.A555V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	555	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCTGCTATGCGGCCAACACA	0.577													C|||	2	0.000399361	0	0	5008	,	,		15569	0		0	False		,,,				2504	0.002					ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1663-1665)gCg>gTg		sidekick cell adhesion molecule 1							116	119	118					7																	4009006		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4009006C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1664C>T	7.37:g.4009006C>T	ENSP00000385899:p.Ala555Val					SDK1_ENST00000389531.3_Missense_Mutation_p.A555V	p.A555V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1803	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	555			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1664C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616418	0.87359	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.72505	-0.66;-0.66	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.84969	0.5590	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83076	-0.0140	10	0.39692	T	0.17	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	555	Q7Z5N4	SDK1_HUMAN	V	555	ENSP00000385899:A555V;ENSP00000374182:A555V	ENSP00000374182:A555V	A	+	2	0	SDK1	3975532	1.000000	0.71417	0.240000	0.24138	0.728000	0.41692	7.410000	0.80065	2.826000	0.97356	0.655000	0.94253	GCG		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	167	0	0	0	1	0	4	167					T	4009006	C	T	4009006	3	4	130	1	0	0	0	0	1	0	0	0	13968	768	27	1	1706	1	SDK1	7	4009006	Missense_Mutation	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08		4009006	155129657	7	2333										
UBE3C	9690	broad.mit.edu	37	chr7	157060410	157060410	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	cttttgcgaagtaaacttctCtatgcgattgaatgtgccgc	9	9	1	1			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr7:157060410C>G	ENST00000348165.5	+	23	3573	c.3213C>G	c.(3211-3213)ctC>ctG	p.L1071L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1071	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTAAACTTCTCTATGCGATTG	0.567																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(3211-3213)ctC>ctG		ubiquitin protein ligase E3C							125	117	119					7																	157060410		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157060410C>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3213C>G	7.37:g.157060410C>G							p.L1071L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	23	3573	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1071			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.3213C>G	CCDS34789.1																																																																																				0.567	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		30	35	0	0	0	1	0	30	35					G	157060410	C	G	157060410	2	3	130	1	0	0	0	0	0	0	0	1	16878	900	32	5		5	UBE3C	7	157060410	Silent	SNP	C	TCGA-TT-A6YN-01A-12D-A35I-08	153051404	157060410	2078253	8	2334										
FBXO10	26267	broad.mit.edu	37	chr9	37518298	37518298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	aaccttgaccccactttgccGgttgcaggagatgctgttgt	11	11	0	2			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr9:37518298G>A	ENST00000432825.2	-	9	2386	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	FBXO10_ENST00000541829.1_Missense_Mutation_p.R305W|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	780					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCACTTTGCCGGTTGCAGGAG	0.572																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2338-2340)Cgg>Tgg		F-box protein 10							89	98	95					9																	37518298		2115	4221	6336	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518298G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2338C>T	9.37:g.37518298G>A	ENSP00000403802:p.Arg780Trp					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.R305W	p.R780W	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2386	-			780					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2338C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767724	0.69878	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80566	-1.39;-1.39	5.36	4.4	0.53042	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.203964	0.43747	D	0.000522	T	0.69904	0.3163	N	0.14661	0.345	0.43622	D	0.996008	D;P;P	0.58620	0.983;0.86;0.86	P;B;B	0.47376	0.545;0.326;0.326	T	0.73088	-0.4093	10	0.52906	T	0.07	-14.339	10.9743	0.47456	0.0:0.0:0.6561:0.3439	.	659;305;780	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	W	780;305	ENSP00000403802:R780W;ENSP00000441307:R305W	ENSP00000403802:R780W	R	-	1	2	FBXO10	37508298	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.144000	0.50616	2.496000	0.84212	0.563000	0.77884	CGG		0.572	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			3	62	0	0	0	1	0	3	62					A	37518298	G	A	37518298	3	1	130	1	0	0	0	0	1	0	0	0	5726	1115	39	2	544	2	FBXO10	9	37518298	Missense_Mutation	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		37518298	103695133	9	2335										
PCSK7	9159	broad.mit.edu	37	chr11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	acgccacgtgaggcagggccGcacctgcagcattaaggcta	13	13	0	1			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	423	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCAGGGCCGCACCTGCAGC	0.627			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1267-1269)Cgg>Tgg		proprotein convertase subtilisin/kexin type 7							57	46	50					11																	117090363		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090363G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1267C>T	11.37:g.117090363G>A	ENSP00000325917:p.Arg423Trp					PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	p.R423W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1897	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	423			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1267C>T	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802841	0.90623	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.87887	-2.31;-2.31	5.69	4.7	0.59300	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94972	0.8118	10	0.72032	D	0.01	-34.1224	16.525	0.84328	0.0:0.0:0.8607:0.1393	.	423	Q16549	PCSK7_HUMAN	W	423;64;423	ENSP00000325917:R423W;ENSP00000441944:R64W	ENSP00000325917:R423W	R	-	1	2	PCSK7	116595573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.085000	0.71343	2.696000	0.92011	0.557000	0.71058	CGG		0.627	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		9	23	0	0	0	1	0	9	23					A	117090363	G	A	117090363	3	1	130	1	0	0	0	0	1	0	0	0	11605	1086	38	1	1122	1	PCSK7	11	117090363	Missense_Mutation	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		117090363	17916153	10	2336										
CHD6	84181	broad.mit.edu	37	chr20	40076589	40076589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.272727272727273	3	1	2.31923076923077	7.73076923076923	1.71794871794872	1	1	0	ttcagcttttaggtagtacaGcatccggactcgcaaaagta	9	9	1	0			TCGA-TT-A6YN-01A-12D-A35I-08	TCGA-TT-A6YN-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d224cf56-a405-4a62-8d91-2f05ddd11e7e	c83f5b88-bf6d-41a2-8b57-ad688bd5cc97	g.chr20:40076589G>A	ENST00000373233.3	-	24	3883	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	CHD6_ENST00000309279.7_Silent_p.L719L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1236					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGTAGTACAGCATCCGGACT	0.403																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3706-3708)Ctg>Ttg		chromodomain helicase DNA binding protein 6							128	122	124					20																	40076589		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40076589G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3706C>T	20.37:g.40076589G>A						CHD6_ENST00000309279.7_Silent_p.L719L	p.L1236L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			24	3883	-		Myeloproliferative disorder(115;0.00425)	1236					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3706C>T	CCDS13317.1																																																																																				0.403	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	143	0	0	0	1	0	4	143					A	40076589	G	A	40076589	2	1	130	1	0	0	0	0	0	0	0	1	3329	962	34	3		3	CHD6	20	40076589	Silent	SNP	G	TCGA-TT-A6YN-01A-12D-A35I-08		40076589	22948931	11	2337										
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526285	150526285	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcactccttaggagaaggtgGcttcttccgtgcatcccctc	10	14	1	1			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr1:150526285G>T	ENST00000369038.2	+	4	1019	c.818G>T	c.(817-819)gGc>gTc	p.G273V	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.G273V|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G273V			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	273					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGAAGGTGGCTTCTTCCGT	0.657																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(817-819)gGc>gTc		ADAMTS-like 4							51	49	50					1																	150526285		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150526285G>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.818G>T	1.37:g.150526285G>T	ENSP00000358034:p.Gly273Val					RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G273V|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G273V	p.G273V	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	1054	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		273					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.818G>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	7.052	0.564618	0.13498	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.61510	0.19;0.1;0.38;0.1	4.52	-0.229	0.13094	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.001;0.0;0.002	T	0.19321	-1.0309	9	0.36615	T	0.2	.	2.3551	0.04293	0.1072:0.1496:0.2407:0.5025	.	273;273;273;273	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	V	273	ENSP00000358037:G273V;ENSP00000271643:G273V;ENSP00000358035:G273V;ENSP00000358034:G273V	ENSP00000271643:G273V	G	+	2	0	ADAMTSL4	148792909	0.001000	0.12720	0.002000	0.10522	0.077000	0.17291	0.161000	0.16481	0.301000	0.22738	0.484000	0.47621	GGC		0.657	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		3	26	1	0	1	1	1	3	26					T	150526285	G	T	150526285	3	4	131	1	0	0	0	0	1	0	0	0	277	1203	42	5	832	5	ADAMTSL4	1	150526285	Missense_Mutation	SNP	G	TCGA-TT-A6YO-01A-11D-A35I-08		150526285	98724336	1	2338										
KLHL23	151230	broad.mit.edu	37	chr2	170591547	170591547	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggctctaaaaggacaagaagAttatatttatcttttcaagg	8	5	3	2			TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr2:170591547A>C	ENST00000392647.2	+	2	267	c.23A>C	c.(22-24)gAt>gCt	p.D8A	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.D8A	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	8										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GGACAAGAAGATTATATTTAT	0.313																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(22-24)gAt>gCt		kelch-like family member 23							80	88	85					2																	170591547		2202	4300	6502	SO:0001583	missense	151230							g.chr2:170591547A>C	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.23A>C	2.37:g.170591547A>C	ENSP00000376419:p.Asp8Ala					KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.D8A	p.D8A	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN			2	267	+			8					Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.23A>C	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	A	6.531	0.466171	0.12402	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.69175	-0.38;-0.38	5.82	4.67	0.58626	BTB/POZ fold (1);	0.342788	0.31884	N	0.006920	T	0.59514	0.2199	L	0.46157	1.445	0.33596	D	0.601769	B	0.22003	0.063	B	0.22386	0.039	T	0.64723	-0.6340	9	0.45353	T	0.12	.	11.8015	0.52130	0.9316:0.0:0.0683:0.0	.	8	Q8NBE8	KLH23_HUMAN	A	8	ENSP00000272797:D8A;ENSP00000376419:D8A	ENSP00000272797:D8A	D	+	2	0	KLHL23	170299793	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	3.561000	0.53770	1.029000	0.39812	-0.256000	0.11100	GAT		0.313	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		3	75	0	0	0	1	0	3	75					C	170591547	A	C	170591547	3	2	131	1	0	0	0	0	1	0	0	0	8378	333	12	5	25	5	KLHL23	2	170591547	Missense_Mutation	SNP	A	TCGA-TT-A6YO-01A-11D-A35I-08		170591547	72607826	2	2339										
GABRB2	2561	broad.mit.edu	37	chr5	160763709	160763709	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	aactgtggaagttcaattttCgttactcctgttactgcatt	7	8	1	0	rs138163747	byFrequency	TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr5:160763709C>T	ENST00000393959.1	-	6	608	c.609G>A	c.(607-609)acG>acA	p.T203T	GABRB2_ENST00000520240.1_Silent_p.T203T|GABRB2_ENST00000517901.1_Silent_p.T140T|GABRB2_ENST00000274547.2_Silent_p.T203T|GABRB2_ENST00000517547.1_Silent_p.T43T|GABRB2_ENST00000353437.6_Silent_p.T203T			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	203					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTCAATTTTCGTTACTCCTG	0.378													C|||	2	0.000399361	0.0015	0	5008	,	,		15244	0		0	False		,,,				2504	0					ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(607-609)acG>acA		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	,	3,4403	6.2+/-15.9	0,3,2200	134	132	133		609,609	-4	1	5	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GABRB2	NM_000813.2,NM_021911.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	203/475,203/513	160763709	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160763709C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.609G>A	5.37:g.160763709C>T						GABRB2_ENST00000520240.1_Silent_p.T203T|GABRB2_ENST00000353437.6_Silent_p.T203T|GABRB2_ENST00000393959.1_Silent_p.T203T|GABRB2_ENST00000517901.1_Silent_p.T140T|GABRB2_ENST00000517547.1_Silent_p.T43T	p.T203T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	826	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	203					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.609G>A	CCDS4355.1																																																																																				0.378	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			3	59	0	0	0	1	0	3	59					T	160763709	C	T	160763709	2	4	131	1	0	0	0	0	0	0	0	1	6167	871	31	2		2	GABRB2	5	160763709	Silent	SNP	C	TCGA-TT-A6YO-01A-11D-A35I-08		160763709	20151551	3	2340										
KCNV2	169522	broad.mit.edu	37	chr9	2718201	2718201	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	gaatacttcttcgaccgcgaCccggccgtcttccagctggt							TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr9:2718201delC	ENST00000382082.3	+	1	700	c.462delC	c.(460-462)gacfs	p.D154fs		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	154					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCGACCGCGACCCGGCCGTCT	0.652																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(460-462)gafs		potassium channel, subfamily V, member 2							26	23	24					9																	2718201		2202	4300	6502	SO:0001589	frameshift_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718201delC	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.462delC	9.37:g.2718201delC	ENSP00000371514:p.Asp154fs						p.D154fs	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	700	+			154					Q5T6X0	Frame_Shift_Del	DEL	ENST00000382082.3	37	c.462delC	CCDS6447.1																																																																																				0.652	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		2	4						2	4	---	---	---	---	-	2718201	C	-	2718201	7	5	131	1	0	1	0	1	0	0	0	0	8095	506	18	0	464	0	KCNV2	9	2718201	Frame_Shift_Del	DEL	C	TCGA-TT-A6YO-01A-11D-A35I-08		2718201	138495230	4	2341										
RTN4RL2	349667	broad.mit.edu	37	chr11	57243790	57243790	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	ggcgtgcaccgcgcggccttCcgcggcctcagccgcctcac							TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr11:57243790delC	ENST00000335099.3	+	3	986	c.669delC	c.(667-669)ttcfs	p.F223fs	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCGCGGCCTTCCGCGGCCTCA	0.716																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(667-669)ttfs		reticulon 4 receptor-like 2							16	20	18					11																	57243790		2194	4278	6472	SO:0001589	frameshift_variant	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243790delC	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.669delC	11.37:g.57243790delC	ENSP00000335397:p.Phe223fs						p.F223fs	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			3	986	+			223						Frame_Shift_Del	DEL	ENST00000335099.3	37	c.669delC	CCDS7957.1																																																																																				0.716	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		2	4						2	4	---	---	---	---	-	57243790	C	-	57243790	7	5	131	1	0	1	0	1	0	0	0	0	13732	854	30	0	679	0	RTN4RL2	11	57243790	Frame_Shift_Del	DEL	C	TCGA-TT-A6YO-01A-11D-A35I-08		57243790	77762726	5	2342										
ACE	1636	broad.mit.edu	37	chr17	61560491	61560491	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctggggggtctttagtgggCgtacccccccttcccgctac	13	15	1	0	rs201540553	byFrequency	TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr17:61560491C>T	ENST00000290866.4	+	9	1468	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	ACE_ENST00000577647.1_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000584529.1_Intron|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482C|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTTTAGTGGGCGTACCCCCCC	0.552													C|||	2	0.000399361	0	0	5008	,	,		15838	0.001		0.001	False		,,,				2504	0					ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1444-1446)Cgt>Tgt		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	C	CYS/ARG	0,4406		0,0,2203	129	139	135		1444	2.8	0.1	17		135	3,8597	3.0+/-9.4	0,3,4297	no	missense	ACE	NM_000789.3	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	482/1307	61560491	3,13003	2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560491C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1444C>T	17.37:g.61560491C>T	ENSP00000290866:p.Arg482Cys					ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482C	p.R482C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			9	1468	+			482			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1444C>T	CCDS11637.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	5.862	0.343229	0.11069	0.0	3.49E-4	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.34472	1.36;1.36	4.87	2.84	0.33178	.	0.317473	0.31963	N	0.006785	T	0.48295	0.1492	M	0.83953	2.67	0.09310	N	0.999999	B;D	0.76494	0.056;0.999	B;P	0.50754	0.006;0.649	T	0.46721	-0.9171	10	0.66056	D	0.02	-2.4434	9.5241	0.39154	0.1423:0.7835:0.0:0.0742	rs61758670	482;482	P12821-2;P12821	.;ACE_HUMAN	C	482	ENSP00000290866:R482C;ENSP00000397593:R482C	ENSP00000290866:R482C	R	+	1	0	ACE	58914223	0.000000	0.05858	0.147000	0.22382	0.008000	0.06430	0.958000	0.29227	0.628000	0.30357	0.561000	0.74099	CGT		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	143	0	0	0	1	0	5	143					T	61560491	C	T	61560491	3	4	131	1	0	0	0	0	1	0	0	0	136	768	27	1	1478	1	ACE	17	61560491	Missense_Mutation	SNP	C	TCGA-TT-A6YO-01A-11D-A35I-08		61560491	19634719	6	2343										
PPP1R16B	26051	broad.mit.edu	37	chr20	37464689	37464689	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	tgaagaaatgggcacagtacGagcaggacttgcagcaccgc							TCGA-TT-A6YO-01A-11D-A35I-08	TCGA-TT-A6YO-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d78ff96-7fc0-4605-9721-5b0d9f1cb94d	5ebd3ab8-698e-4360-a13c-48761a724828	g.chr20:37464689delG	ENST00000299824.1	+	2	310	c.121delG	c.(121-123)gagfs	p.E41fs	PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.E41fs	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	41					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCACAGTACGAGCAGGACTT	0.672																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(121-123)agfs		protein phosphatase 1, regulatory subunit 16B							14	16	16					20																	37464689		2188	4287	6475	SO:0001589	frameshift_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37464689delG	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.121delG	20.37:g.37464689delG	ENSP00000299824:p.Glu41fs					PPP1R16B_ENST00000373331.2_Frame_Shift_Del_p.E41fs	p.E41fs	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			2	310	+		Myeloproliferative disorder(115;0.00878)	41					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Frame_Shift_Del	DEL	ENST00000299824.1	37	c.121delG	CCDS13309.1																																																																																				0.672	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		2	4						2	4	---	---	---	---	-	37464689	G	-	37464689	7	5	131	1	0	1	0	1	0	0	0	0	12366	1059	37	0	123	0	PPP1R16B	20	37464689	Frame_Shift_Del	DEL	G	TCGA-TT-A6YO-01A-11D-A35I-08		37464689	25560831	7	2344										
LPPR4	9890	broad.mit.edu	37	chr1	99772002	99772002	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	agcaacagccagccccgaatCatgcaagtcatagccatgtc	8	14	2	0			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr1:99772002C>T	ENST00000370185.3	+	7	2225	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	LPPR4_ENST00000457765.1_Silent_p.I518I|LPPR4_ENST00000370184.1_Silent_p.I418I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		576					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCCCCGAATCATGCAAGTCA	0.547																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1726-1728)atC>atT									59	60	59					1																	99772002		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772002C>T																												ENST00000370185.3:c.1728C>T	1.37:g.99772002C>T						LPPR4_ENST00000457765.1_Silent_p.I518I|LPPR4_ENST00000370184.1_Silent_p.I418I	p.I576I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2225	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	576					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1728C>T	CCDS757.1																																																																																				0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			6	35	0	0	0	1	0	6	35					T	99772002	C	T	99772002	2	4	132	1	0	0	0	0	0	0	0	1	8927	816	29	3		3	LPPR4	1	99772002	Silent	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08		99772002	149478619	1	2345										
ADAMTS12	81792	broad.mit.edu	37	chr5	33577007	33577007	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	gattgctggagtgcttgtgcTcatagactcaggccctgtgg	14	9	2	1			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr5:33577007T>C	ENST00000504830.1	-	19	3459	c.3124A>G	c.(3124-3126)Agc>Ggc	p.S1042G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1042	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGCTTGTGCTCATAGACTCA	0.537										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3124-3126)Agc>Ggc		ADAM metallopeptidase with thrombospondin type 1 motif, 12							151	144	146					5																	33577007		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577007T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3124A>G	5.37:g.33577007T>C	ENSP00000422554:p.Ser1042Gly	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G	p.S1042G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3459	-			1042			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3124A>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	4.543	0.100806	0.08731	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59906	0.24;0.23	5.08	2.71	0.32032	.	0.820694	0.11549	N	0.553010	T	0.44603	0.1301	L	0.34521	1.04	0.09310	N	1	B;B	0.26147	0.143;0.088	B;B	0.30572	0.117;0.055	T	0.34030	-0.9845	10	0.22109	T	0.4	.	7.4007	0.26962	0.0:0.2449:0.0:0.7551	.	957;1042	P58397-3;P58397	.;ATS12_HUMAN	G	1042;957	ENSP00000422554:S1042G;ENSP00000344847:S957G	ENSP00000344847:S957G	S	-	1	0	ADAMTS12	33612764	0.004000	0.15560	0.003000	0.11579	0.019000	0.09904	1.361000	0.34136	0.420000	0.25954	0.533000	0.62120	AGC		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		3	38	0	0	0	1	0	3	38					C	33577007	T	C	33577007	3	2	132	1	0	0	0	0	1	0	0	0	257	1551	54	4	1684	4	ADAMTS12	5	33577007	Missense_Mutation	SNP	T	TCGA-TT-A6YP-01A-21D-A35I-08		33577007	147338253	2	2346										
ASZ1	136991	broad.mit.edu	37	chr7	117025822	117025822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	ggagagcaacaacctgggtgTgaccatctcgagcagcatac	12	11	1	2			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr7:117025822T>C	ENST00000284629.2	-	5	544	c.482A>G	c.(481-483)cAc>cGc	p.H161R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACCTGGGTGTGACCATCTCG	0.408																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(481-483)cAc>cGc		ankyrin repeat, SAM and basic leucine zipper domain containing 1							111	107	108					7																	117025822		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117025822T>C	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.482A>G	7.37:g.117025822T>C	ENSP00000284629:p.His161Arg						p.H161R	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		5	544	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		161						Missense_Mutation	SNP	ENST00000284629.2	37	c.482A>G	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.353271	0.61293	.	.	ENSG00000154438	ENST00000284629	T	0.65732	-0.17	5.91	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.162323	0.56097	D	0.000040	T	0.63498	0.2516	N	0.17082	0.46	0.40887	D	0.984042	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.65726	-0.6098	10	0.46703	T	0.11	2.5901	11.0341	0.47791	0.0:0.0736:0.0:0.9264	.	161;161	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	R	161	ENSP00000284629:H161R	ENSP00000284629:H161R	H	-	2	0	ASZ1	116813058	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.173000	0.58249	1.071000	0.40834	-0.256000	0.11100	CAC		0.408	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		3	31	0	0	0	1	0	3	31					C	117025822	T	C	117025822	3	2	132	1	0	0	0	0	1	0	0	0	1069	1696	59	4	981	4	ASZ1	7	117025822	Missense_Mutation	SNP	T	TCGA-TT-A6YP-01A-21D-A35I-08		117025822	42112841	3	2347										
PAXIP1	22976	broad.mit.edu	37	chr7	154767578	154767578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	cctcagggggcaaaatgttaCctgggacgggtgggacattg	16	8	1	0			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr7:154767578C>T	ENST00000404141.1	-	6	1056	c.902G>A	c.(901-903)gGt>gAt	p.G301D	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	301					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAAAATGTTACCTGGGACGGG	0.527																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(901-903)gGt>gAt		PAX interacting (with transcription-activation domain) protein 1							61	57	58					7																	154767578		1860	4103	5963	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767578C>T	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.902G>A	7.37:g.154767578C>T	ENSP00000384048:p.Gly301Asp					PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D|PAXIP1_ENST00000473219.1_5'UTR	p.G301D			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	1056	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	301					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.902G>A	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476070	0.84640	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.56444	0.46;0.46	5.04	5.04	0.67666	.	0.102357	0.40908	U	0.000997	T	0.71762	0.3378	M	0.66939	2.045	0.52099	D	0.999941	D;D;D;D	0.89917	0.976;1.0;0.994;1.0	P;D;P;D	0.81914	0.661;0.995;0.817;0.983	T	0.73672	-0.3909	10	0.56958	D	0.05	-26.6964	18.7519	0.91819	0.0:1.0:0.0:0.0	.	254;210;267;301	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	D	301;301;249;254	ENSP00000384048:G301D;ENSP00000380376:G301D	ENSP00000319149:G254D	G	-	2	0	PAXIP1	154398511	1.000000	0.71417	0.527000	0.27925	0.859000	0.49053	6.596000	0.74113	2.495000	0.84180	0.305000	0.20034	GGT		0.527	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		4	18	0	0	0	1	0	4	18					T	154767578	C	T	154767578	3	4	132	1	0	0	0	0	1	0	0	0	11487	507	18	3	2371	3	PAXIP1	7	154767578	Missense_Mutation	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08	37741756	154767578	4371085	4	2348										
OSBP	5007	broad.mit.edu	37	chr11	59382787	59382787	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	agcagttacctgtagtagctCaggagcccgttgctcagcac	11	12	2	0			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr11:59382787C>A	ENST00000263847.1	-	1	830	c.351G>T	c.(349-351)ctG>ctT	p.L117L	AP000442.1_ENST00000531108.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	117	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTAGTAGCTCAGGAGCCCGT	0.617																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(349-351)ctG>ctT		oxysterol binding protein							31	28	29					11																	59382787		2201	4294	6495	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59382787C>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.351G>T	11.37:g.59382787C>A							p.L117L	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	1	830	-		all_epithelial(135;0.000236)	117			PH.		Q6P524	Silent	SNP	ENST00000263847.1	37	c.351G>T	CCDS7974.1																																																																																				0.617	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			3	9	1	0	0.004672	1	0.004672	3	9					A	59382787	C	A	59382787	2	1	132	1	0	0	0	0	0	0	0	1	11273	813	29	5		5	OSBP	11	59382787	Silent	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08		59382787	75623729	5	2349										
ANO2	57101	broad.mit.edu	37	chr12	5963272	5963272	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	gccagcacctgccacggggcGtgtatccggacaaagatgga	14	12	0	1	rs373747618		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr12:5963272G>A	ENST00000356134.5	-	4	629	c.558C>T	c.(556-558)caC>caT	p.H186H	ANO2_ENST00000327087.8_Silent_p.H186H|ANO2_ENST00000546188.1_Silent_p.H186H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	190					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCACGGGGCGTGTATCCGGA	0.468																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(556-558)caC>caT		anoctamin 2		G		0,3804		0,0,1902	170	175	173		558	-0.3	1	12		173	2,8222		0,2,4110	no	coding-synonymous	ANO2	NM_020373.2		0,2,6012	AA,AG,GG		0.0243,0.0,0.0166		186/999	5963272	2,12026	1902	4112	6014	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5963272G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.558C>T	12.37:g.5963272G>A						ANO2_ENST00000546188.1_Silent_p.H186H|ANO2_ENST00000356134.5_Silent_p.H186H	p.H186H			Q9NQ90	ANO2_HUMAN			4	629	-			190					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.558C>T																																																																																					0.468	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		19	82	0	0	0	1	0	19	82					A	5963272	G	A	5963272	2	1	132	1	0	0	0	0	0	0	0	1	697	1136	40	1		1	ANO2	12	5963272	Silent	SNP	G	TCGA-TT-A6YP-01A-21D-A35I-08		5963272	127888623	6	2350										
FBN3	84467	broad.mit.edu	37	chr19	8130917	8130917	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	ctcaccacctccagccggtaGgttccaggccccggccgcct	10	20	1	0			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:8130917G>C	ENST00000600128.1	-	64	8730	c.8316C>G	c.(8314-8316)acC>acG	p.T2772T	FBN3_ENST00000270509.2_Silent_p.T2772T|FBN3_ENST00000601739.1_Silent_p.T2772T			Q75N90	FBN3_HUMAN	fibrillin 3	2772						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCAGCCGGTAGGTTCCAGGCC	0.677																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8314-8316)acC>acG		fibrillin 3							40	43	42					19																	8130917		2202	4299	6501	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130917G>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8316C>G	19.37:g.8130917G>C						FBN3_ENST00000601739.1_Silent_p.T2772T|FBN3_ENST00000270509.2_Silent_p.T2772T	p.T2772T			Q75N90	FBN3_HUMAN			64	8730	-			2772					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8316C>G	CCDS12196.1																																																																																				0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	45	0	0	0	1	0	10	45					C	8130917	G	C	8130917	2	2	132	1	0	0	0	0	0	0	0	1	5704	987	35	5		5	FBN3	19	8130917	Silent	SNP	G	TCGA-TT-A6YP-01A-21D-A35I-08		8130917	50998066	7	2351										
FBN3	84467	broad.mit.edu	37	chr19	8181576	8181576	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	accaacacatgtcctcatgtCtggcgtggccatgaagccat	9	13	2	1			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:8181576C>T	ENST00000600128.1	-	29	4108	c.3694G>A	c.(3694-3696)Gac>Aac	p.D1232N	FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N|FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N			Q75N90	FBN3_HUMAN	fibrillin 3	1232	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCCTCATGTCTGGCGTGGCC	0.617																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3694-3696)Gac>Aac		fibrillin 3							75	68	70					19																	8181576		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8181576C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3694G>A	19.37:g.8181576C>T	ENSP00000470498:p.Asp1232Asn					FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N	p.D1232N			Q75N90	FBN3_HUMAN			29	4108	-			1232			EGF-like 17.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3694G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891255	0.91889	.	.	ENSG00000142449	ENST00000270509	D	0.87887	-2.31	4.15	4.15	0.48705	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.91466	0.7306	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91827	0.5472	10	0.51188	T	0.08	.	16.2013	0.82084	0.0:1.0:0.0:0.0	.	1232	Q75N90	FBN3_HUMAN	N	1232	ENSP00000270509:D1232N	ENSP00000270509:D1232N	D	-	1	0	FBN3	8087576	1.000000	0.71417	0.229000	0.23960	0.300000	0.27592	7.168000	0.77570	2.154000	0.67381	0.448000	0.29417	GAC		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		15	26	0	0	0	1	0	15	26					T	8181576	C	T	8181576	3	4	132	1	0	0	0	0	1	0	0	0	5704	913	32	3	4879	3	FBN3	19	8181576	Missense_Mutation	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08	50659	8181576	50947407	8	2352										
ZNF493	284443	broad.mit.edu	37	chr19	21607388	21607388	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	aagcttttaagcggtcctcaCacctcgctgggcacaagcaa	9	13	1	0			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:21607388C>G	ENST00000355504.4	+	2	1809	c.1543C>G	c.(1543-1545)Cac>Gac	p.H515D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H643D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCGGTCCTCACACCTCGCTGG	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1927-1929)Cac>Gac		zinc finger protein 493							43	48	47					19																	21607388		2198	4293	6491	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607388C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1543C>G	19.37:g.21607388C>G	ENSP00000347691:p.His515Asp					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H515D	p.H643D	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	2036	+			515					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1927C>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.699538	0.00097	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.13089	2.62;2.62	0.361	-0.721	0.11189	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07007	0.0178	N	0.13352	0.335	0.09310	N	0.999999	B;B	0.22541	0.01;0.071	B;B	0.19946	0.022;0.027	T	0.39742	-0.9599	9	0.22706	T	0.39	.	6.9525	0.24552	0.4759:0.5241:0.0:0.0	.	515;643	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	643;515	ENSP00000376110:H643D;ENSP00000347691:H515D	ENSP00000347691:H515D	H	+	1	0	ZNF493	21399228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.536000	0.00219	-2.190000	0.00757	-2.240000	0.00288	CAC		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	36	0	0	0	1	0	3	36					G	21607388	C	G	21607388	3	3	132	1	0	0	0	0	1	0	0	0	17941	478	17	5	2004	5	ZNF493	19	21607388	Missense_Mutation	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08	13425812	21607388	37521595	9	2353										
ZNF334	55713	broad.mit.edu	37	chr20	45130892	45130892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.2	2	1	3.12925170068027	0	4.38095238095238	0.4	1	0	ctttgatgtacaacaagataCgatttcttgctgaaggcatt	8	7	1	3	rs140945220		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr20:45130892C>T	ENST00000347606.4	-	5	1268	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S	ZNF334_ENST00000457685.2_Silent_p.S324S|ZNF334_ENST00000593880.1_Silent_p.S385S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAACAAGATACGATTTCTTGC	0.458																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(970-972)tcG>tcA		zinc finger protein 334		C	,	6,4400	11.4+/-27.6	0,6,2197	193	192	192		1086,972	-6.6	0	20	dbSNP_134	192	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	ZNF334	NM_018102.3,NM_199441.1	,	0,10,6493	TT,TC,CC		0.0465,0.1362,0.0769	,	362/681,324/643	45130892	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130892C>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1086G>A	20.37:g.45130892C>T						ZNF334_ENST00000347606.4_Silent_p.S362S|ZNF334_ENST00000593880.1_Silent_p.S385S	p.S324S			Q9HCZ1	ZN334_HUMAN			6	2295	-		Myeloproliferative disorder(115;0.0122)	362					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.972G>A	CCDS33480.1																																																																																				0.458	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			4	127	0	0	0	1	0	4	127					T	45130892	C	T	45130892	2	4	132	1	0	0	0	0	0	0	0	1	17848	523	19	1		1	ZNF334	20	45130892	Silent	SNP	C	TCGA-TT-A6YP-01A-21D-A35I-08		45130892	17894628	10	2354										
SLC6A9	6536	broad.mit.edu	37	chr1	44474156	44474156	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtacaccggcgcagtcatgCgtgttccaggggttattgca	13	10	1	0			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr1:44474156C>T	ENST00000360584.2	-	5	869	c.678G>A	c.(676-678)acG>acA	p.T226T	SLC6A9_ENST00000372310.3_Silent_p.T153T|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000537678.1_Silent_p.T88T|SLC6A9_ENST00000357730.2_Silent_p.T172T|SLC6A9_ENST00000372307.3_Silent_p.T88T|SLC6A9_ENST00000475075.2_Silent_p.T42T|SLC6A9_ENST00000372306.3_Silent_p.T153T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	226					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGCAGTCATGCGTGTTCCAGG	0.592																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(457-459)acG>acA		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						145	123	130					1																	44474156		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474156C>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.678G>A	1.37:g.44474156C>T						SLC6A9_ENST00000372306.3_Silent_p.T153T|SLC6A9_ENST00000360584.2_Silent_p.T226T|SLC6A9_ENST00000357730.2_Silent_p.T172T|SLC6A9_ENST00000372307.3_Silent_p.T88T|SLC6A9_ENST00000475075.2_Silent_p.T42T|SLC6A9_ENST00000537678.1_Silent_p.T88T	p.T153T	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			5	624	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	226					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.459G>A	CCDS41317.1																																																																																				0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		3	48	0	0	0	1	0	3	48					T	44474156	C	T	44474156	2	4	133	1	0	0	0	0	0	0	0	1	14691	755	27	1		1	SLC6A9	1	44474156	Silent	SNP	C	TCGA-W2-A7H5-01B-11D-A35I-08		44474156	204776465	1	2355										
OBSCN	84033	broad.mit.edu	37	chr1	228505606	228505606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccccagcagagccaccgaaGcctgtgcctccccagccctc	8	21	0	1			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr1:228505606G>A	ENST00000422127.1	+	53	13907	c.13863G>A	c.(13861-13863)aaG>aaA	p.K4621K	OBSCN_ENST00000366707.4_Silent_p.K2255K|OBSCN_ENST00000284548.11_Silent_p.K4621K|OBSCN_ENST00000570156.2_Silent_p.K5578K|OBSCN_ENST00000366709.4_Silent_p.K1740K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4621					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCACCGAAGCCTGTGCCTC	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16732-16734)aaG>aaA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							22	25	24					1																	228505606		2034	4174	6208	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505606G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13863G>A	1.37:g.228505606G>A						OBSCN_ENST00000366709.4_Silent_p.K1740K|OBSCN_ENST00000422127.1_Silent_p.K4621K|OBSCN_ENST00000366707.4_Silent_p.K2255K|OBSCN_ENST00000284548.11_Silent_p.K4621K	p.K5578K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			64	16808	+		Prostate(94;0.0405)	4621					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.16734G>A	CCDS58065.1																																																																																				0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	9	0	0	0	1	0	5	9					A	228505606	G	A	228505606	2	1	133	1	0	0	0	0	0	0	0	1	10812	962	34	3		3	OBSCN	1	228505606	Silent	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08	184031450	228505606	20745015	2	2356										
ALMS1	7840	broad.mit.edu	37	chr2	73675529	73675529	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctacttcctactcacatagAgagaagcctggtacttttta	6	10	2	2			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr2:73675529A>G	ENST00000264448.6	+	8	1983	c.1872A>G	c.(1870-1872)agA>agG	p.R624R	ALMS1_ENST00000377715.1_Silent_p.R624R|ALMS1_ENST00000409009.1_Silent_p.R582R	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	624	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTCACATAGAGAGAAGCCTG	0.468																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(1870-1872)agA>agG		Alstrom syndrome 1							113	113	113					2																	73675529		1864	4095	5959	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675529A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1872A>G	2.37:g.73675529A>G						ALMS1_ENST00000409009.1_Silent_p.R582R|ALMS1_ENST00000377715.1_Silent_p.R624R	p.R624R	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	1983	+			624			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.1872A>G	CCDS42697.1																																																																																				0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		11	104	0	0	0	1	0	11	104					G	73675529	A	G	73675529	2	3	133	1	0	0	0	0	0	0	0	1	535	301	11	4		4	ALMS1	2	73675529	Silent	SNP	A	TCGA-W2-A7H5-01B-11D-A35I-08		73675529	169523844	3	2357										
FGD2	221472	broad.mit.edu	37	chr6	36995325	36995325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccctcgggatgaccccctcGtgctctatgtctatgctgcc	9	16	2	1			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr6:36995325G>A	ENST00000274963.8	+	15	1897	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	576	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGACCCCCTCGTGCTCTATGT	0.662																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1726-1728)Gtg>Atg		FYVE, RhoGEF and PH domain containing 2							71	65	67					6																	36995325		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36995325G>A	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1726G>A	6.37:g.36995325G>A	ENSP00000274963:p.Val576Met						p.V576M	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			15	1897	+			576			PH 2.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1726G>A	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087672	0.76642	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.69806	-0.43	5.82	5.82	0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.167937	0.28290	N	0.015900	T	0.81494	0.4834	M	0.80847	2.515	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.79108	0.92;0.992	T	0.82762	-0.0297	10	0.87932	D	0	-6.9666	19.7131	0.96103	0.0:0.0:1.0:0.0	.	576;153	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	M	576;204	ENSP00000274963:V576M	ENSP00000274963:V576M	V	+	1	0	FGD2	37103303	1.000000	0.71417	0.822000	0.32727	0.247000	0.25773	7.171000	0.77595	2.756000	0.94617	0.655000	0.94253	GTG		0.662	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		5	69	0	0	0	1	0	5	69					A	36995325	G	A	36995325	3	1	133	1	0	0	0	0	1	0	0	0	5833	1145	40	1	1784	1	FGD2	6	36995325	Missense_Mutation	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08		36995325	134119742	4	2358										
DNAH8	1769	broad.mit.edu	37	chr6	38840747	38840747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggattgagaacttaaattccGttttggatgacaataaaact	8	5	0	2			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr6:38840747G>A	ENST00000359357.3	+	49	6906	c.6652G>A	c.(6652-6654)Gtt>Att	p.V2218I	DNAH8_ENST00000449981.2_Missense_Mutation_p.V2435I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V2182I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2218	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2218I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTAAATTCCGTTTTGGATGA	0.383																																						ENST00000359357.3																			2	Substitution - Missense(2)	p.V2218I(2)	kidney(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(6652-6654)Gtt>Att		dynein, axonemal, heavy chain 8							85	86	86					6																	38840747		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840747G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6652G>A	6.37:g.38840747G>A	ENSP00000352312:p.Val2218Ile					DNAH8_ENST00000449981.2_Missense_Mutation_p.V2435I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V2182I	p.V2218I							49	6906	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6652G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.314433	0.95655	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.94092	-3.35;-3.35;-3.35	5.78	5.78	0.91487	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.98005	0.9343	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98628	1.0670	10	0.87932	D	0	.	20.0114	0.97452	0.0:0.0:1.0:0.0	.	2218	Q96JB1	DYH8_HUMAN	I	2423;2423;2218;2182	ENSP00000333363:V2423I;ENSP00000352312:V2218I;ENSP00000402294:V2182I	ENSP00000333363:V2423I	V	+	1	0	DNAH8	38948725	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.843000	0.99491	2.745000	0.94114	0.655000	0.94253	GTT		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		13	74	0	0	0	1	0	13	74					A	38840747	G	A	38840747	3	1	133	1	0	0	0	0	1	0	0	0	4607	1145	40	1	6838	1	DNAH8	6	38840747	Missense_Mutation	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08	1845422	38840747	132274320	5	2359										
MDK	4192	broad.mit.edu	37	chr11	46404253	46404253	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcagtgccaggagaccatcCgcgtcaccaagccctgcacc	9	18	2	1			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chr11:46404253C>A	ENST00000405308.2	+	4	790	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	MDK_ENST00000395569.4_Missense_Mutation_p.R65S|MDK_ENST00000407067.1_Missense_Mutation_p.R121S|MDK_ENST00000395565.1_Missense_Mutation_p.R121S|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000359803.3_Missense_Mutation_p.R121S|MDK_ENST00000395566.4_Missense_Mutation_p.R121S	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	121					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGAGACCATCCGCGTCACCAA	0.652																																						ENST00000405308.2																			0				lung(1)	1						c.(361-363)Cgc>Agc		midkine (neurite growth-promoting factor 2)							58	43	48					11																	46404253		2201	4298	6499	SO:0001583	missense	4192				adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding	g.chr11:46404253C>A		CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.361C>A	11.37:g.46404253C>A	ENSP00000385451:p.Arg121Ser					MDK_ENST00000395566.4_Missense_Mutation_p.R121S|MDK_ENST00000395569.4_Missense_Mutation_p.R65S|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000359803.3_Missense_Mutation_p.R121S|MDK_ENST00000407067.1_Missense_Mutation_p.R121S|MDK_ENST00000395565.1_Missense_Mutation_p.R121S	p.R121S	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN		GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)	4	790	+			121					Q2LEK4|Q9UCC7	Missense_Mutation	SNP	ENST00000405308.2	37	c.361C>A	CCDS7919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.48|10.48	1.362013|1.362013	0.24684|0.24684	.|.	.|.	ENSG00000110492|ENSG00000110492	ENST00000405098|ENST00000405308;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395569;ENST00000395566;ENST00000407067;ENST00000395565	.|.	.|.	.|.	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.|.	.|.	.|.	.|.	T|T	0.12220|0.12220	0.0297|0.0297	N|N	0.03115|0.03115	-0.41|-0.41	0.19300|0.19300	N|N	0.99997|0.99997	.|B;P;B	.|0.41597	.|0.182;0.756;0.058	.|B;B;B	.|0.39904	.|0.098;0.313;0.098	T|T	0.04991|0.04991	-1.0913|-1.0913	6|8	0.87932|0.08381	D|T	0|0.77	.|.	7.7982|7.7982	0.29160|0.29160	0.0:0.7384:0.1675:0.0941|0.0:0.7384:0.1675:0.0941	.|.	.|65;121;121	.|Q2LEK4;E9PLM6;P21741	.|.;.;MK_HUMAN	Q|S	39|121;121;121;121;65;121;121;121	.|.	ENSP00000385946:P39Q|ENSP00000352852:R121S	P|R	+|+	2|1	0|0	MDK|MDK	46360829|46360829	0.001000|0.001000	0.12720|0.12720	0.991000|0.991000	0.47740|0.47740	0.880000|0.880000	0.50808|0.50808	0.910000|0.910000	0.28571|0.28571	2.556000|2.556000	0.86216|0.86216	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.652	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317546.2	NM_001012334		3	37	1	0	6.4e-05	1	6.93333e-05	3	37					A	46404253	C	A	46404253	3	1	133	1	0	0	0	0	1	0	0	0	9411	652	23	5	371	5	MDK	11	46404253	Missense_Mutation	SNP	C	TCGA-W2-A7H5-01B-11D-A35I-08		46404253	88602263	6	2360										
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-W2-A7H5-01B-11D-A35I-08	TCGA-W2-A7H5-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	906c1c9f-7beb-4389-a3d4-56025e606b9f	501494b0-58f4-47d0-a5f3-98c2ffdbefee	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	220	0	0	0	1	0	6	220					A	140994960	G	A	140994960	2	1	133	1	0	0	0	0	0	0	0	1	9180	1364	48	3		3	MAGEC1	23	140994960	Silent	SNP	G	TCGA-W2-A7H5-01B-11D-A35I-08		140994960	14275600	7	2361										
CHD5	26038	broad.mit.edu	37	chr1	6202616	6202616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctggtacgggtgcagtgtgCcgcctgtggagtcgatgtac	17	9	0	0			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:6202616C>T	ENST00000262450.3	-	14	2192	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGCAGTGTGCCGCCTGTGGA	0.642																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2092-2094)gGc>gAc		chromodomain helicase DNA binding protein 5							130	92	105					1																	6202616		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202616C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2093G>A	1.37:g.6202616C>T	ENSP00000262450:p.Gly698Asp					CHD5_ENST00000378021.1_5'UTR	p.G698D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2192	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	698					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2093G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154079	0.78114	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91631	-2.88	3.43	3.43	0.39272	DEAD-like helicase (1);	0.000000	0.64402	D	0.000001	D	0.95579	0.8563	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95956	0.8958	10	0.59425	D	0.04	-25.1359	15.3972	0.74805	0.0:1.0:0.0:0.0	.	698	Q8TDI0	CHD5_HUMAN	D	698;214;106;106	ENSP00000262450:G698D	ENSP00000262450:G698D	G	-	2	0	CHD5	6125203	1.000000	0.71417	0.989000	0.46669	0.756000	0.42949	7.554000	0.82212	1.895000	0.54865	0.561000	0.74099	GGC		0.642	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		4	54	0	0	0	1	0	4	54					T	6202616	C	T	6202616	3	4	134	1	0	0	0	0	1	0	0	0	3328	739	26	3	3883	3	CHD5	1	6202616	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08		6202616	243048005	1	2362										
GON4L	54856	broad.mit.edu	37	chr1	155723052	155723052	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtcctgctctgggtggcctCagtgctctcccgctcctctg	11	16	4	0			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:155723052C>A	ENST00000368331.1	-	29	5833	c.5785G>T	c.(5785-5787)Gag>Tag	p.E1929*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.E1929*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1929					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGGTGGCCTCAGTGCTCTCC	0.587																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(5785-5787)Gag>Tag		gon-4-like (C. elegans)							94	104	101					1																	155723052		2073	4205	6278	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155723052C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5785G>T	1.37:g.155723052C>A	ENSP00000357315:p.Glu1929*					GON4L_ENST00000368331.1_Nonsense_Mutation_p.E1929*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929*	p.E1929*			Q3T8J9	GON4L_HUMAN			29	5907	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1929					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.5785G>T		.	.	.	.	.	.	.	.	.	.	C	45	11.653717	0.99587	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.8784	0.79182	0.0:1.0:0.0:0.0	.	.	.	.	X	1929	.	ENSP00000271883:E1929X	E	-	1	0	GON4L	153989676	0.689000	0.27690	0.538000	0.28064	0.358000	0.29455	4.216000	0.58540	2.579000	0.87056	0.555000	0.69702	GAG		0.587	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		11	60	1	0	3.07112e-06	1	3.07112e-06	11	60					A	155723052	C	A	155723052	4	1	134	1	0	0	0	0	0	1	0	0	6572	835	29	5	953	5	GON4L	1	155723052	Nonsense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08	149520436	155723052	93527569	2	2363										
ATP6V1G3	127124	broad.mit.edu	37	chr1	198498248	198498248	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaactctttatctctctgcAttctgtactggtcaatttct	5	10	6	0			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr1:198498248A>G	ENST00000367382.1	-	2	230	c.146T>C	c.(145-147)aTg>aCg	p.M49T	ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.M55T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	49					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						ATCTCTCTGCATTCTGTACTG	0.313																																						ENST00000367381.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(163-165)aTg>aCg		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							151	144	147					1																	198498248		2202	4298	6500	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198498248A>G	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"ATPases / V-type"	18265	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.146T>C	1.37:g.198498248A>G	ENSP00000356352:p.Met49Thr					ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T	p.M55T			Q96LB4	VATG3_HUMAN			4	269	-			49					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.164T>C	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080465	0.36662	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.19	5.19	0.71726	.	0.156786	0.64402	D	0.000017	T	0.48003	0.1476	L	0.58302	1.8	0.32650	N	0.519472	P;P	0.51933	0.949;0.891	P;P	0.51701	0.677;0.598	T	0.54227	-0.8325	10	0.12103	T	0.63	-18.154	14.5254	0.67884	1.0:0.0:0.0:0.0	.	55;49	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	T	49;55;49;55	ENSP00000356352:M49T;ENSP00000356351:M55T;ENSP00000281087:M49T;ENSP00000417171:M55T	ENSP00000281087:M49T	M	-	2	0	ATP6V1G3	196764871	1.000000	0.71417	0.935000	0.37517	0.859000	0.49053	7.077000	0.76814	2.087000	0.62958	0.533000	0.62120	ATG		0.313	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		4	34	0	0	0	1	0	4	34					G	198498248	A	G	198498248	3	3	134	1	0	0	0	0	1	0	0	0	1188	217	8	4	218	4	ATP6V1G3	1	198498248	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	42775196	198498248	50752373	3	2364										
GPR128	84873	broad.mit.edu	37	chr3	100362211	100362211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaatttctcttcagaaaatgCggtggggccttcaaatgttc	9	8	3	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr3:100362211C>T	ENST00000273352.3	+	7	1068	c.800C>T	c.(799-801)gCg>gTg	p.A267V	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	267					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAGAAAATGCGGTGGGGCCT	0.403																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(799-801)gCg>gTg		G protein-coupled receptor 128							151	154	153					3																	100362211		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362211C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.800C>T	3.37:g.100362211C>T	ENSP00000273352:p.Ala267Val					GPR128_ENST00000475887.1_Intron	p.A267V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			7	1068	+			267					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.800C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982339	0.18889	.	.	ENSG00000144820	ENST00000273352	T	0.39229	1.09	3.93	-0.181	0.13291	.	1.886950	0.02509	N	0.091316	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.14578	0.011	T	0.06180	-1.0841	10	0.11182	T	0.66	.	1.0452	0.01568	0.1829:0.4275:0.1782:0.2115	.	267	Q96K78	GP128_HUMAN	V	267	ENSP00000273352:A267V	ENSP00000273352:A267V	A	+	2	0	GPR128	101844901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.359000	0.07632	-0.154000	0.11118	-0.143000	0.13931	GCG		0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	130	0	0	0	1	0	4	130					T	100362211	C	T	100362211	3	4	134	1	0	0	0	0	1	0	0	0	6641	768	27	1	826	1	GPR128	3	100362211	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08		100362211	97660219	4	2365										
COL6A6	131873	broad.mit.edu	37	chr3	130282279	130282279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggcttcatctgagtctgaGgataatgtggaagaggcatc	13	7	3	3			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr3:130282279G>A	ENST00000358511.6	+	2	463	c.432G>A	c.(430-432)gaG>gaA	p.E144E	COL6A6_ENST00000453409.2_Silent_p.E144E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	144	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGAGTCTGAGGATAATGTGG	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(430-432)gaG>gaA		collagen, type VI, alpha 6							48	49	48					3																	130282279		1904	4123	6027	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130282279G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.432G>A	3.37:g.130282279G>A						COL6A6_ENST00000453409.2_Silent_p.E144E	p.E144E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			2	463	+			144			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.432G>A	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		18	10	0	0	0	1	0	18	10					A	130282279	G	A	130282279	2	1	134	1	0	0	0	0	0	0	0	1	3703	991	35	3		3	COL6A6	3	130282279	Silent	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08	29920068	130282279	67740151	5	2366										
C4orf14	84273	broad.mit.edu	37	chr4	57832876	57832876	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gggaggatgttggaagccacGactgtaaaccaagctgactg	14	8	0	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr4:57832876G>A	ENST00000264230.4	-	5	2911	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	558					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TGGAAGCCACGACTGTAAACC	0.453																																						ENST00000264230.4																			0											c.(1672-1674)gtC>gtT		nitric oxide associated 1							158	137	144					4																	57832876		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57832876G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1674C>T	4.37:g.57832876G>A							p.V558V	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			5	2911	-			558					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.1674C>T	CCDS3510.1																																																																																				0.453	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		26	41	0	0	0	1	0	26	41					A	57832876	G	A	57832876	2	1	134	1	0	0	0	0	0	0	0	1	2251	1045	37	2		2	C4orf14	4	57832876	Silent	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		57832876	133321400	6	2367										
PHF17	79960	broad.mit.edu	37	chr4	129778604	129778604	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgagaagtttggggcctctAtacaggtaattagcttccta	10	7	1	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr4:129778604A>G	ENST00000226319.6	+	8	1256	c.976A>G	c.(976-978)Ata>Gta	p.I326V	PHF17_ENST00000452328.2_Missense_Mutation_p.I314V|PHF17_ENST00000511647.1_Missense_Mutation_p.I326V|PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000512960.1_Missense_Mutation_p.I326V	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGGGCCTCTATACAGGTAAT	0.537																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(976-978)Ata>Gta									151	157	155					4																	129778604		2203	4300	6503	SO:0001583	missense	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129778604A>G																												ENST00000226319.6:c.976A>G	4.37:g.129778604A>G	ENSP00000226319:p.Ile326Val					PHF17_ENST00000512960.1_Missense_Mutation_p.I326V|PHF17_ENST00000452328.2_Missense_Mutation_p.I314V|PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000511647.1_Missense_Mutation_p.I326V	p.I326V	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			8	1256	+			326						Missense_Mutation	SNP	ENST00000226319.6	37	c.976A>G	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.147745	0.57151	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.47	4.47	0.54385	Zinc finger, PHD-type (1);	0.094910	0.64402	D	0.000001	T	0.68165	0.2971	L	0.46670	1.46	0.80722	D	1	B;P;B	0.38250	0.389;0.624;0.234	P;P;B	0.52758	0.506;0.708;0.296	T	0.65857	-0.6066	9	.	.	.	.	14.2062	0.65737	1.0:0.0:0.0:0.0	.	314;326;326	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	V	326;326;314;326;326;326	ENSP00000226319:I326V;ENSP00000423737:I326V;ENSP00000388015:I314V;ENSP00000425730:I326V;ENSP00000404211:I326V	.	I	+	1	0	PHF17	129998054	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.329000	0.90017	2.002000	0.58637	0.533000	0.62120	ATA		0.537	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			66	107	0	0	0	1	0	66	107					G	129778604	A	G	129778604	3	3	134	1	0	0	0	0	1	0	0	0	11828	449	16	4	1002	4	PHF17	4	129778604	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	71945728	129778604	61375672	7	2368										
CDC20B	166979	broad.mit.edu	37	chr5	54420759	54420759	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcctgccatccggtgaccActtcagagcacacacagctt	8	16	1	2			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr5:54420759A>G	ENST00000381375.2	-	9	1232	c.1087T>C	c.(1087-1089)Tgg>Cgg	p.W363R	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R|CDC20B_ENST00000296733.1_Missense_Mutation_p.W363R			Q86Y33	CD20B_HUMAN	cell division cycle 20B	363										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCCGGTGACCACTTCAGAGCA	0.572																																						ENST00000296733.1																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1087-1089)Tgg>Cgg		cell division cycle 20B							137	119	125					5																	54420759		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420759A>G	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	24222	protein-coding gene	gene with protein product			"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1087T>C	5.37:g.54420759A>G	ENSP00000370781:p.Trp363Arg					CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.W363R	p.W363R	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1261	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	363					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1087T>C	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229660	0.79688	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.66815	-0.23;-0.23;-0.23	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.39834	N	0.001254	D	0.85575	0.5728	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89426	0.3713	10	0.87932	D	0	-26.1302	13.9319	0.64001	1.0:0.0:0.0:0.0	.	363;363;363	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	R	363	ENSP00000296733:W363R;ENSP00000370781:W363R;ENSP00000315720:W363R	ENSP00000296733:W363R	W	-	1	0	CDC20B	54456516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	1.947000	0.56498	0.528000	0.53228	TGG		0.572	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		6	114	0	0	0	1	0	6	114					G	54420759	A	G	54420759	3	3	134	1	0	0	0	0	1	0	0	0	3060	159	6	4	488	4	CDC20B	5	54420759	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		54420759	126494501	8	2369										
ALDH7A1	501	broad.mit.edu	37	chr5	125903982	125903982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcaccatcaggcccacctgTtttcccacctgagtgctccc	7	18	1	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr5:125903982T>C	ENST00000409134.3	-	9	1059	c.840A>G	c.(838-840)aaA>aaG	p.K280K	ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000553117.1_Silent_p.K280K|ALDH7A1_ENST00000413020.1_5'UTR	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	280					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		GGCCCACCTGTTTTCCCACCT	0.488																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(838-840)aaA>aaG		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						173	158	163					5																	125903982		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125903982T>C	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.840A>G	5.37:g.125903982T>C						ALDH7A1_ENST00000553117.1_Silent_p.K280K|ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000413020.1_5'UTR	p.K280K	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	9	1059	-		all_cancers(142;0.24)|Prostate(80;0.081)	280					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.840A>G	CCDS4137.2																																																																																				0.488	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		30	72	0	0	0	1	0	30	72					C	125903982	T	C	125903982	2	2	134	1	0	0	0	0	0	0	0	1	504	1722	60	4		4	ALDH7A1	5	125903982	Silent	SNP	T	TCGA-W2-A7H7-01A-11D-A35I-08	71483223	125903982	55011278	9	2370										
LPL	4023	broad.mit.edu	37	chr8	19811698	19811698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtctttctcctgatgatgcAgattttgtagacgtcttaca	8	9	3	4			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr8:19811698A>G	ENST00000311322.8	+	5	1079	c.609A>G	c.(607-609)gcA>gcG	p.A203A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	203			A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding). {ECO:0000269|PubMed:2110364}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CTGATGATGCAGATTTTGTAG	0.478																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(607-609)gcA>gcG		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						136	132	134					8																	19811698		2203	4300	6503	SO:0001819	synonymous_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811698A>G		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.609A>G	8.37:g.19811698A>G							p.A203A	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1079	+			203		A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding).			B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	c.609A>G	CCDS6012.1																																																																																				0.478	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			11	76	0	0	0	1	0	11	76					G	19811698	A	G	19811698	2	3	134	1	0	0	0	0	0	0	0	1	8921	175	7	4		4	LPL	8	19811698	Silent	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		19811698	126552324	10	2371										
DYRK2	8445	broad.mit.edu	37	chr12	68051587	68051587	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgcaaccacatctgcatgacGtttgagctgctgagcatgaa	10	11	1	4	rs374702499		TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr12:68051587G>A	ENST00000344096.3	+	3	1313	c.900G>A	c.(898-900)acG>acA	p.T300T	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.T227T	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCTGCATGACGTTTGAGCTGC	0.478																																						ENST00000344096.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(898-900)acG>acA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2		G	,	1,4405	2.1+/-5.4	0,1,2202	158	152	154		681,900	-0.5	1	12		154	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DYRK2	NM_003583.3,NM_006482.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	227/529,300/602	68051587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051587G>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.900G>A	12.37:g.68051587G>A						DYRK2_ENST00000393555.3_Silent_p.T227T	p.T300T	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1313	+			300			Protein kinase.		B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.900G>A	CCDS8978.1																																																																																				0.478	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			4	159	0	0	0	1	0	4	159					A	68051587	G	A	68051587	2	1	134	1	0	0	0	0	0	0	0	1	4856	1132	40	1		1	DYRK2	12	68051587	Silent	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		68051587	65800308	11	2372										
GPC5	2262	broad.mit.edu	37	chr13	92346010	92346010	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcatgcatatatccggtcgTtggaagaactctcggatgca	12	9	1	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr13:92346010T>C	ENST00000377067.3	+	3	1267	c.895T>C	c.(895-897)Ttg>Ctg	p.L299L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	299					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TATCCGGTCGTTGGAAGAACT	0.502																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(895-897)Ttg>Ctg		glypican 5							138	126	130					13																	92346010		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92346010T>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.895T>C	13.37:g.92346010T>C							p.L299L	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	1267	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	299					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.895T>C	CCDS9468.1																																																																																				0.502	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		11	77	0	0	0	1	0	11	77					C	92346010	T	C	92346010	2	2	134	1	0	0	0	0	0	0	0	1	6601	1722	60	4		4	GPC5	13	92346010	Silent	SNP	T	TCGA-W2-A7H7-01A-11D-A35I-08		92346010	22823868	12	2373										
SLC2A4	6517	broad.mit.edu	37	chr17	7189833	7189833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cttaagagtacctgaaactcGaggccggacgtttgaccaga	11	10	0	4			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:7189833G>A	ENST00000317370.8	+	11	1683	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	472					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCTGAAACTCGAGGCCGGACG	0.537																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1414-1416)cGa>cAa		solute carrier family 2 (facilitated glucose transporter), member 4							282	283	283					17																	7189833		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7189833G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1415G>A	17.37:g.7189833G>A	ENSP00000320935:p.Arg472Gln						p.R472Q	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN			11	1683	+			472					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.1415G>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813439	0.90790	.	.	ENSG00000181856	ENST00000317370	T	0.74106	-0.81	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.78742	0.4331	M	0.70903	2.155	0.80722	D	1	P	0.52692	0.955	P	0.47786	0.557	T	0.81911	-0.0716	10	0.72032	D	0.01	.	16.4157	0.83732	0.0:0.0:1.0:0.0	.	472	P14672	GTR4_HUMAN	Q	472	ENSP00000320935:R472Q	ENSP00000320935:R472Q	R	+	2	0	SLC2A4	7130557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.241000	0.58707	2.826000	0.97356	0.655000	0.94253	CGA		0.537	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			5	293	0	0	0	1	0	5	293					A	7189833	G	A	7189833	3	1	134	1	0	0	0	0	1	0	0	0	14546	1058	37	2	1457	2	SLC2A4	17	7189833	Missense_Mutation	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		7189833	74005377	13	2374										
MLLT6	4302	broad.mit.edu	37	chr17	36871916	36871916	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgaggccagcacgcaggagAcctctgagagcagcagggag	16	11	1	2			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:36871916A>T	ENST00000325718.7	+	9	962	c.871A>T	c.(871-873)Acc>Tcc	p.T291S	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	291					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CACGCAGGAGACCTCTGAGAG	0.562			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(871-873)Acc>Tcc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							106	96	99					17																	36871916		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36871916A>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.871A>T	17.37:g.36871916A>T	ENSP00000316426:p.Thr291Ser					CTB-58E17.9_ENST00000579499.1_RNA	p.T291S	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			9	962	+	Breast(7;4.43e-21)		291					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.871A>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610474	0.46527	.	.	ENSG00000108292	ENST00000325718	T	0.80909	-1.43	5.43	1.8	0.24995	.	1.105820	0.06629	N	0.758858	T	0.58047	0.2095	N	0.05534	-0.03	0.26995	N	0.965047	B	0.26002	0.139	B	0.21917	0.037	T	0.50329	-0.8841	10	0.06365	T	0.9	.	6.5452	0.22402	0.5946:0.3188:0.0866:0.0	.	291	P55198	AF17_HUMAN	S	291	ENSP00000316426:T291S	ENSP00000316426:T291S	T	+	1	0	MLLT6	34125442	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.146000	0.31589	0.895000	0.36342	-0.461000	0.05368	ACC		0.562	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		3	25	0	0	0	1	0	3	25					T	36871916	A	T	36871916	3	4	134	1	0	0	0	0	1	0	0	0	9630	275	10	5	905	5	MLLT6	17	36871916	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	29682083	36871916	44323294	14	2375										
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acccacctgctgtcgccccaCctgctgtgagacgacctgct	9	18	0	1	rs11650484	byFrequency	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	68	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		T -> S. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657													g|||	3229	0.644768	0.9433	0.634	5008	,	,		18672	0.4177		0.6203	False		,,,				2504	0.5082					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(202-204)aCc>aGc		keratin associated protein 4-7							17	30	26					17																	39240661		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240661C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.203C>G	17.37:g.39240661C>G	ENSP00000375236:p.Thr68Ser						p.T68S	NM_033061.3	NP_149050.3					1	203	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.203C>G	CCDS45673.1	1292|1292	0.5915750915750916|0.5915750915750916	426|426	0.8658536585365854|0.8658536585365854	216|216	0.5966850828729282|0.5966850828729282	219|219	0.38286713286713286|0.38286713286713286	431|431	0.5686015831134564|0.5686015831134564	g|.	0.004|0.004	-2.356434|-2.356434	0.00217|0.00217	.|.	.|.	ENSG00000212722|ENSG00000240871	ENST00000377734|ENST00000391417	.|T	.|0.01215	.|5.16	3.78|3.78	-3.84|-3.84	0.04256|0.04256	.|.	.|4.898520	.|0.00659	.|N	.|0.000582	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.26710	.|-1.0095	.|8	.|0.02654	.|T	.|1	.|.	3.9478|3.9478	0.09355|0.09355	0.1799:0.497:0.1974:0.1257|0.1799:0.497:0.1974:0.1257	rs11650484|rs11650484	.|68	.|Q9BYR0	.|KRA47_HUMAN	.|S	-1|68	.|ENSP00000375236:T68S	.|ENSP00000375236:T68S	.|T	+|+	.|2	.|0	KRTAP4-9|KRTAP4-7	36494187|36494187	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.039000|0.039000	0.13416|0.13416	-2.567000|-2.567000	0.00916|0.00916	-0.884000|-0.884000	0.03976|0.03976	-0.383000|-0.383000	0.06682|0.06682	.|ACC		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	70	0	0	0	1	0	3	70					G	39240661	C	G	39240661	3	3	134	1	0	0	0	0	1	0	0	0	8555	507	18	5	205	5	KRTAP4-7	17	39240661	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08	2368745	39240661	41954549	15	2376										
MIF4GD	57409	broad.mit.edu	37	chr17	73266262	73266262	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggattttatactcctctctActgggctcccccatgactag	7	13	1	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr17:73266262A>G	ENST00000325102.8	-	2	139	c.15T>C	c.(13-15)agT>agC	p.S5S	MIF4GD_ENST00000577542.1_Silent_p.S5S|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000579119.1_Silent_p.S5S|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000245551.5_Silent_p.S5S|MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000580571.1_Silent_p.S5S|MIF4GD_ENST00000578305.1_Silent_p.S5S	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	5	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACTCCTCTCTACTGGGCTCCC	0.587																																						ENST00000577542.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10						c.(13-15)agT>agC		MIF4G domain containing							133	133	133					17																	73266262		2203	4300	6503	SO:0001819	synonymous_variant	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73266262A>G	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.15T>C	17.37:g.73266262A>G						MIF4GD_ENST00000580571.1_Silent_p.S5S|MIF4GD_ENST00000245551.5_Silent_p.S5S|MIF4GD_ENST00000325102.8_Silent_p.S5S|MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000579119.1_Silent_p.S5S|MIF4GD_ENST00000578305.1_Silent_p.S5S	p.S5S			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	277	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		5			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Silent	SNP	ENST00000325102.8	37	c.15T>C	CCDS56044.1																																																																																				0.587	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		4	220	0	0	0	1	0	4	220					G	73266262	A	G	73266262	2	3	134	1	0	0	0	0	0	0	0	1	9584	388	14	4		4	MIF4GD	17	73266262	Silent	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08	34025601	73266262	7928948	16	2377										
KDM4B	23030	broad.mit.edu	37	chr19	5144146	5144146	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccatcacctgcctcaagcacAagtcggggggtcacgctgtg	12	14	3	0			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr19:5144146A>G	ENST00000159111.4	+	19	2937	c.2719A>G	c.(2719-2721)Aag>Gag	p.K907E	KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	907					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCAAGCACAAGTCGGGGGG	0.711																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(2719-2721)Aag>Gag		lysine (K)-specific demethylase 4B							44	47	46					19																	5144146		2203	4299	6502	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5144146A>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2719A>G	19.37:g.5144146A>G	ENSP00000159111:p.Lys907Glu					KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E	p.K907E	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			19	2937	+			907					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2719A>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884118	0.51908	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18960	2.18;2.18	4.28	2.04	0.26737	Zinc finger, PHD-type (1);	0.384971	0.17999	N	0.154948	T	0.14056	0.0340	L	0.36672	1.1	0.26372	N	0.97687	B;P	0.43788	0.122;0.817	B;B	0.38500	0.059;0.275	T	0.10965	-1.0607	10	0.42905	T	0.14	-11.8612	6.2208	0.20681	0.6133:0.3051:0.0816:0.0	.	941;907	F5GX28;O94953	.;KDM4B_HUMAN	E	907;941	ENSP00000159111:K907E;ENSP00000440495:K941E	ENSP00000159111:K907E	K	+	1	0	KDM4B	5095146	1.000000	0.71417	0.570000	0.28473	0.560000	0.35617	3.929000	0.56514	0.107000	0.17824	0.459000	0.35465	AAG		0.711	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		22	37	0	0	0	1	0	22	37					G	5144146	A	G	5144146	3	3	134	1	0	0	0	0	1	0	0	0	8129	131	5	4	2785	4	KDM4B	19	5144146	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		5144146	53984837	17	2378										
ZNF776	284309	broad.mit.edu	37	chr19	58265270	58265270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ttaataatcatcagggagttCgcactggaaaaagaccttat	8	7	2	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr19:58265270C>T	ENST00000317178.5	+	3	1035	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCAGGGAGTTCGCACTGGAAA	0.423																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(772-774)Cgc>Tgc		zinc finger protein 776							76	73	74					19																	58265270		2203	4300	6503	SO:0001583	missense	284309							g.chr19:58265270C>T	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.772C>T	19.37:g.58265270C>T	ENSP00000321812:p.Arg258Cys						p.R258C	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1035	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.772C>T	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024724	0.35701	.	.	ENSG00000152443	ENST00000317178	T	0.15256	2.44	1.79	1.79	0.24919	Zinc finger, C2H2 (1);	.	.	.	.	T	0.08223	0.0205	N	0.20685	0.6	0.80722	D	1	B;P	0.38711	0.332;0.643	B;B	0.12837	0.008;0.008	T	0.27297	-1.0078	9	0.87932	D	0	.	10.5453	0.45056	0.0:1.0:0.0:0.0	.	258;258	Q68DI1;B4DSC6	ZN776_HUMAN;.	C	258	ENSP00000321812:R258C	ENSP00000321812:R258C	R	+	1	0	ZNF776	62957082	0.011000	0.17503	0.013000	0.15412	0.172000	0.22775	1.968000	0.40500	0.992000	0.38840	0.305000	0.20034	CGC		0.423	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		6	61	0	0	0	1	0	6	61					T	58265270	C	T	58265270	3	4	134	1	0	0	0	0	1	0	0	0	18146	884	31	2	782	2	ZNF776	19	58265270	Missense_Mutation	SNP	C	TCGA-W2-A7H7-01A-11D-A35I-08	53121124	58265270	863713	18	2379										
CENPB	1059	broad.mit.edu	37	chr20	3765453	3765453	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcggtcatcaatggggaaggAggtcaggtacctcttgacca	14	9	4	1			TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr20:3765453A>T	ENST00000379751.4	-	1	1884	c.1678T>A	c.(1678-1680)Tcc>Acc	p.S560T	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	560	Homodimerization.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ATGGGGAAGGAGGTCAGGTAC	0.562																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(1678-1680)Tcc>Acc		centromere protein B, 80kDa							179	141	154					20																	3765453		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3765453A>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1678T>A	20.37:g.3765453A>T	ENSP00000369075:p.Ser560Thr						p.S560T	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	1884	-			560					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.1678T>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.495859	0.44352	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	T	0.47869	0.83	5.15	5.15	0.70609	Centromere protein Cenp-B, dimerisation domain (1);	0.000000	0.40469	U	0.001098	T	0.53834	0.1821	L	0.27053	0.805	0.29827	N	0.830332	D	0.57257	0.979	D	0.74023	0.982	T	0.55611	-0.8114	10	0.72032	D	0.01	-10.5159	11.3722	0.49707	1.0:0.0:0.0:0.0	.	560	P07199	CENPB_HUMAN	T	560;99	ENSP00000369075:S560T	ENSP00000369075:S560T	S	-	1	0	CENPB	3713453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.975000	0.49281	1.940000	0.56252	0.533000	0.62120	TCC		0.562	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		5	37	0	0	0	1	0	5	37					T	3765453	A	T	3765453	3	4	134	1	0	0	0	0	1	0	0	0	3227	304	11	5	125	5	CENPB	20	3765453	Missense_Mutation	SNP	A	TCGA-W2-A7H7-01A-11D-A35I-08		3765453	59260067	19	2380										
TUBA8	51807	broad.mit.edu	37	chr22	18609712	18609712	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatgctctaccggggcgacGtggtgcccaaggatgtgaat	15	10	1	1	rs151102020	byFrequency	TCGA-W2-A7H7-01A-11D-A35I-08	TCGA-W2-A7H7-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b59ab157-a667-49fc-a867-4f0a9f5a3df9	17d4339d-169d-4808-92ec-5e95778c4b99	g.chr22:18609712G>T	ENST00000330423.3	+	4	1040	c.967G>T	c.(967-969)Gtg>Ttg	p.V323L	TUBA8_ENST00000316027.6_Missense_Mutation_p.V257L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	323					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCGGGGCGACGTGGTGCCCAA	0.557																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(967-969)Gtg>Ttg		tubulin, alpha 8							95	79	85					22																	18609712		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609712G>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.967G>T	22.37:g.18609712G>T	ENSP00000333326:p.Val323Leu					TUBA8_ENST00000316027.6_Missense_Mutation_p.V257L	p.V323L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	1040	+			323					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.967G>T	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	19.95	3.922283	0.73213	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.85411	-1.98;-1.98;-1.98	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.057042	0.64402	D	0.000001	D	0.93638	0.7968	M	0.87269	2.87	0.80722	D	1	D;D;P	0.89917	1.0;0.991;0.602	D;D;P	0.97110	1.0;0.959;0.751	D	0.94010	0.7283	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	257;347;323	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	L	257;323;347	ENSP00000318575:V257L;ENSP00000333326:V323L;ENSP00000412646:V347L	ENSP00000318575:V257L	V	+	1	0	TUBA8	16989712	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GTG		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		22	78	1	0	1.40151e-16	1	1.44984e-16	22	78					T	18609712	G	T	18609712	3	4	134	1	0	0	0	0	1	0	0	0	16747	1145	40	5	981	5	TUBA8	22	18609712	Missense_Mutation	SNP	G	TCGA-W2-A7H7-01A-11D-A35I-08		18609712	32694854	20	2381										
MCOLN2	255231	broad.mit.edu	37	chr1	85431293	85431293	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gtttccacggaatctggcgtCtggctcggtatttttcacaa	10	10	3	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:85431293C>A	ENST00000370608.3	-	2	243	c.176G>T	c.(175-177)aGa>aTa	p.R59I	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R31I	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	59					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AATCTGGCGTCTGGCTCGGTA	0.413																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(175-177)aGa>aTa		mucolipin 2							104	104	104					1																	85431293		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85431293C>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.176G>T	1.37:g.85431293C>A	ENSP00000359640:p.Arg59Ile					MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.R31I	p.R59I	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	2	243	-			59					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.176G>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313115	0.95655	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.60424	0.19;0.19	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.76857	-0.2804	10	0.72032	D	0.01	-24.5202	20.5827	0.99408	0.0:1.0:0.0:0.0	.	59	Q8IZK6	MCLN2_HUMAN	I	59;31	ENSP00000359640:R59I;ENSP00000284027:R31I	ENSP00000284027:R31I	R	-	2	0	MCOLN2	85203881	1.000000	0.71417	0.990000	0.47175	0.863000	0.49368	7.386000	0.79775	2.941000	0.99782	0.655000	0.94253	AGA		0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		3	29	1	0	0.115264	1	0.115264	3	29					A	85431293	C	A	85431293	3	1	135	1	0	0	0	0	1	0	0	0	9396	913	32	5	1576	5	MCOLN2	1	85431293	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		85431293	163819328	1	2382										
GJA5	2702	broad.mit.edu	37	chr1	147230307	147230307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	ctgaccttgccttgctgctgGccttactaagacgtcgcttg	10	13	0	2			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:147230307G>A	ENST00000271348.2	-	2	1201	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.A347V	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	347					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTTGCTGCTGGCCTTACTAAG	0.542																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(1039-1041)gCc>gTc		gap junction protein, alpha 5, 40kDa							114	104	108					1																	147230307		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230307G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.1040C>T	1.37:g.147230307G>A	ENSP00000271348:p.Ala347Val					GJA5_ENST00000369237.1_Missense_Mutation_p.A347V|RP11-433J22.2_ENST00000428911.1_RNA	p.A347V	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1201	-	all_hematologic(923;0.0276)		347					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.1040C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328319	0.60743	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.89123	-2.47;-2.47	5.38	4.45	0.53987	.	0.441099	0.23724	N	0.045181	D	0.83552	0.5279	M	0.76002	2.32	0.46222	D	0.998938	B	0.28998	0.23	B	0.21360	0.034	D	0.85094	0.0953	10	0.87932	D	0	.	15.3714	0.74568	0.0:0.0:0.8596:0.1404	.	347	P36382	CXA5_HUMAN	V	347	ENSP00000271348:A347V;ENSP00000358240:A347V	ENSP00000271348:A347V	A	-	2	0	GJA5	145696931	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.133000	0.71682	1.456000	0.47831	0.655000	0.94253	GCC		0.542	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		5	70	0	0	0	1	0	5	70					A	147230307	G	A	147230307	3	1	135	1	0	0	0	0	1	0	0	0	6404	1203	42	3	40	3	GJA5	1	147230307	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	61799014	147230307	102020314	2	2383										
ADCY10	55811	broad.mit.edu	37	chr1	167794084	167794084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tagcgaatagtctaggtaagCcttaatgatctgaaatggca	10	6	2	2	rs139094168		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr1:167794084C>T	ENST00000367851.4	-	27	3944	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T	ADCY10_ENST00000367848.1_Missense_Mutation_p.A1162T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1254					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAGGTAAGCCTTAATGATC	0.463																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3484-3486)Gct>Act		adenylate cyclase 10 (soluble)							100	98	99					1																	167794084		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167794084C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3760G>A	1.37:g.167794084C>T	ENSP00000356825:p.Ala1254Thr					ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A1254T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A1101T	p.A1162T			Q96PN6	ADCYA_HUMAN			27	3981	-			1254					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3484G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757207	0.69648	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.34667	1.35;1.35;1.35	5.75	4.83	0.62350	.	0.000000	0.53938	D	0.000050	T	0.33614	0.0869	L	0.43757	1.38	0.31256	N	0.6934899999999999	D;D	0.65815	0.995;0.991	P;P	0.61940	0.896;0.79	T	0.16778	-1.0391	9	0.32370	T	0.25	-17.7296	12.1349	0.53966	0.1714:0.8286:0.0:0.0	.	1162;1254	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	T	1101;155;1254;1162	ENSP00000441992:A1101T;ENSP00000356825:A1254T;ENSP00000356822:A1162T	ENSP00000271426:A155T	A	-	1	0	ADCY10	166060708	0.540000	0.26410	1.000000	0.80357	0.980000	0.70556	0.987000	0.29603	1.415000	0.47037	-0.181000	0.13052	GCT		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		25	52	0	0	0	1	0	25	52					T	167794084	C	T	167794084	3	4	135	1	0	0	0	0	1	0	0	0	293	739	26	3	1100	3	ADCY10	1	167794084	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	20563777	167794084	81456537	3	2384										
LTBP1	4052	broad.mit.edu	37	chr2	33413856	33413856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	accagcaggtcattcctcacGtctaccccgtggctgctaag	9	15	3	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:33413856G>A	ENST00000404816.2	+	7	1992	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I	LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000402934.1_Missense_Mutation_p.V221I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	547					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATTCCTCACGTCTACCCCGT	0.537																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(1639-1641)Gtc>Atc		latent transforming growth factor beta binding protein 1							143	139	141					2																	33413856		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33413856G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1639G>A	2.37:g.33413856G>A	ENSP00000386043:p.Val547Ile					LTBP1_ENST00000354476.3_Missense_Mutation_p.V547I|LTBP1_ENST00000390003.4_Missense_Mutation_p.V221I|LTBP1_ENST00000418533.2_Missense_Mutation_p.V221I|LTBP1_ENST00000404525.1_Missense_Mutation_p.V221I|LTBP1_ENST00000407925.1_Missense_Mutation_p.V221I|LTBP1_ENST00000402934.1_Missense_Mutation_p.V221I	p.V547I			Q14766	LTBP1_HUMAN			7	1992	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	547					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.1639G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856732	0.32791	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	T;T;T;T;T;T;T	0.80566	-1.39;-1.38;-1.33;-1.28;-1.31;-1.3;-1.29	5.73	1.76	0.24704	.	.	.	.	.	T	0.65417	0.2689	N	0.25647	0.755	0.47737	D	0.999502	B;B;B;B;B;B	0.29716	0.015;0.164;0.0;0.161;0.255;0.026	B;B;B;B;B;B	0.31245	0.006;0.126;0.002;0.072;0.105;0.015	T	0.49560	-0.8927	9	0.22109	T	0.4	.	6.876	0.24147	0.2753:0.1153:0.6094:0.0	.	547;221;221;221;221;547	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	I	547;547;221;221;221;221;221	ENSP00000386043:V547I;ENSP00000346467:V547I;ENSP00000374653:V221I;ENSP00000393057:V221I;ENSP00000384373:V221I;ENSP00000385359:V221I;ENSP00000384091:V221I	ENSP00000346467:V547I	V	+	1	0	LTBP1	33267360	0.192000	0.23301	0.768000	0.31515	0.959000	0.62525	0.325000	0.19628	0.043000	0.15746	0.561000	0.74099	GTC		0.537	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		36	61	0	0	0	1	0	36	61					A	33413856	G	A	33413856	3	1	135	1	0	0	0	0	1	0	0	0	9073	1145	40	1	1720	1	LTBP1	2	33413856	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		33413856	209785517	4	2385										
GPR148	344561	broad.mit.edu	37	chr2	131486787	131486787	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tggccggccctgatccagctCatcagcaagacaccctgcat	9	16	2	2			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr2:131486787C>T	ENST00000309926.4	+	1	145	c.63C>T	c.(61-63)ctC>ctT	p.L21L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TGATCCAGCTCATCAGCAAGA	0.612																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(61-63)ctC>ctT		G protein-coupled receptor 148							99	97	97					2																	131486787		2203	4300	6503	SO:0001819	synonymous_variant	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486787C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.63C>T	2.37:g.131486787C>T							p.L21L	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	145	+	Colorectal(110;0.1)		21					Q2M369|Q86SP7|Q86U87	Silent	SNP	ENST00000309926.4	37	c.63C>T	CCDS2163.1																																																																																				0.612	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		14	98	0	0	0	1	0	14	98					T	131486787	C	T	131486787	2	4	135	1	0	0	0	0	0	0	0	1	6653	813	29	3		3	GPR148	2	131486787	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	98072931	131486787	111712586	5	2386										
PLXNB1	5364	broad.mit.edu	37	chr3	48445926	48445926	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	accttgttttccacagcagcTgcaatctgctggagccgata	9	12	1	0	rs371837904		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr3:48445926T>C	ENST00000358536.4	-	38	6644	c.6375A>G	c.(6373-6375)gcA>gcG	p.A2125A	PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000358459.4_Silent_p.A1942A|PLXNB1_ENST00000456774.1_Silent_p.A1942A|PLXNB1_ENST00000296440.6_Silent_p.A2125A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2125					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGCAGCTGCAATCTGCT	0.587													T|||	1	0.000199681	8e-04	0	5008	,	,		18123	0		0	False		,,,				2504	0					ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(6373-6375)gcA>gcG		plexin B1		T	,	1,4405	2.1+/-5.4	0,1,2202	56	54	54		6375,6375	-8.8	0.9	3		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	2125/2136,2125/2136	48445926	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48445926T>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.6375A>G	3.37:g.48445926T>C						PLXNB1_ENST00000358459.4_Silent_p.A1942A|PLXNB1_ENST00000448774.2_Silent_p.A736A|PLXNB1_ENST00000456774.1_Silent_p.A1942A|PLXNB1_ENST00000296440.6_Silent_p.A2125A	p.A2125A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	38	6644	-			2125					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.6375A>G	CCDS2765.1																																																																																				0.587	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	23	0	0	0	1	0	3	23					C	48445926	T	C	48445926	2	2	135	1	0	0	0	0	0	0	0	1	12123	1567	55	4		4	PLXNB1	3	48445926	Silent	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		48445926	149576504	6	2387										
TBC1D1	23216	broad.mit.edu	37	chr4	38051409	38051409	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gcaaacaccctgagtcacttCcccatcgaatgccaggaacc	7	16	1	1			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr4:38051409C>T	ENST00000261439.4	+	11	2155	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	TBC1D1_ENST00000508802.1_Silent_p.F600F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	600					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGAGTCACTTCCCCATCGAAT	0.602																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(1798-1800)ttC>ttT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							61	65	63					4																	38051409		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38051409C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1800C>T	4.37:g.38051409C>T						TBC1D1_ENST00000508802.1_Silent_p.F600F	p.F600F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			11	2155	+			600					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.1800C>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.626|0.626	-0.819010|-0.819010	0.02776|0.02776	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000513936;ENST00000443855	.|.	.|.	.|.	5.06|5.06	2.38|2.38	0.29361|0.29361	.|.	.|.	.|.	.|.	.|.	T|T	0.51822|0.51822	0.1697|0.1697	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38045|0.38045	-0.9679|-0.9679	4|4	.|.	.|.	.|.	-0.7129|-0.7129	4.9483|4.9483	0.14000|0.14000	0.2694:0.5134:0.0:0.2172|0.2694:0.5134:0.0:0.2172	.|.	.|.	.|.	.|.	S|F	248|125;92	.|.	.|.	P|S	+|+	1|2	0|0	TBC1D1|TBC1D1	37727804|37727804	0.218000|0.218000	0.23608|0.23608	0.326000|0.326000	0.25389|0.25389	0.016000|0.016000	0.09150|0.09150	-0.477000|-0.477000	0.06583|0.06583	0.251000|0.251000	0.21505|0.21505	-0.136000|-0.136000	0.14681|0.14681	CCC|TCC		0.602	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		32	60	0	0	0	1	0	32	60					T	38051409	C	T	38051409	2	4	135	1	0	0	0	0	0	0	0	1	15594	854	30	3		3	TBC1D1	4	38051409	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		38051409	153102867	7	2388										
RWDD4A	201965	broad.mit.edu	37	chr4	184572391	184572391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	atggtgttgttaaaaaaagcGttcatagatagaattggagg	12	2	1	2			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr4:184572391G>A	ENST00000326397.5	-	3	467	c.195C>T	c.(193-195)aaC>aaT	p.N65N	RWDD4_ENST00000512740.1_Silent_p.N2N|RWDD4_ENST00000510968.1_Intron|RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000327570.9_Silent_p.N65N	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	65	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TAAAAAAAGCGTTCATAGATA	0.368																																						ENST00000326397.5																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(193-195)aaC>aaT		RWD domain containing 4							137	133	135					4																	184572391		2203	4300	6503	SO:0001819	synonymous_variant	201965							g.chr4:184572391G>A	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.195C>T	4.37:g.184572391G>A						RWDD4_ENST00000512740.1_Silent_p.N2N|RWDD4_ENST00000327570.9_Silent_p.N65N|RWDD4_ENST00000510968.1_Intron	p.N65N	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			3	467	-			65			RWD.		B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Silent	SNP	ENST00000326397.5	37	c.195C>T	CCDS34111.1																																																																																				0.368	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		36	49	0	0	0	1	0	36	49					A	184572391	G	A	184572391	2	1	135	1	0	0	0	0	0	0	0	1	13758	1136	40	1		1	RWDD4A	4	184572391	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	146520982	184572391	6581885	8	2389										
HAVCR1	26762	broad.mit.edu	37	chr5	156482298	156482298	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	aacaatatacgccactgtcaGacacagctgtattttctatg	6	10	2	1			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr5:156482298G>A	ENST00000339252.3	-	2	825	c.293C>T	c.(292-294)tCt>tTt	p.S98F	HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	Ig-like V-type.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACTGTCAGACACAGCTGT	0.453																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(292-294)tCt>tTt		hepatitis A virus cellular receptor 1							94	82	86					5																	156482298		2021	4207	6228	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156482298G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"Immunoglobulin superfamily / V-set domain containing"	17866	protein-coding gene	gene with protein product	"T-cell immunoglobulin mucin family member 1"	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.293C>T	5.37:g.156482298G>A	ENSP00000344844:p.Ser98Phe					HAVCR1_ENST00000544197.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S98F|HAVCR1_ENST00000522693.1_Missense_Mutation_p.S98F	p.S98F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	825	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	98			Ig-like V-type.		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.293C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192506	0.38707	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.78	-2.73	0.05950	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.589060	0.03506	N	0.218919	T	0.68201	0.2975	M	0.87097	2.86	0.09310	N	1	D;D	0.67145	0.996;0.996	D;D	0.65443	0.935;0.935	T	0.59526	-0.7438	10	0.87932	D	0	-0.7501	6.6383	0.22895	0.0691:0.096:0.2227:0.6122	.	98;98	F1CME6;Q96D42	.;HAVR1_HUMAN	F	98	ENSP00000428524:S98F;ENSP00000427898:S98F;ENSP00000344844:S98F;ENSP00000403333:S98F;ENSP00000440258:S98F;ENSP00000428422:S98F	ENSP00000344844:S98F	S	-	2	0	HAVCR1	156414876	0.020000	0.18652	0.001000	0.08648	0.020000	0.10135	0.168000	0.16622	-0.160000	0.11002	-0.188000	0.12872	TCT		0.453	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			8	83	0	0	0	1	0	8	83					A	156482298	G	A	156482298	3	1	135	1	0	0	0	0	1	0	0	0	6973	942	33	3	829	3	HAVCR1	5	156482298	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		156482298	24432962	9	2390										
CASP2	835	broad.mit.edu	37	chr7	142985577	142985577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gccgagcgcggggtcttggtCcaccttccagcacaaggagc	14	14	1	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr7:142985577C>T	ENST00000310447.5	+	1	270	c.29C>T	c.(28-30)tCc>tTc	p.S10F	RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000392925.2_Missense_Mutation_p.S10F|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	10					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGGTCTTGGTCCACCTTCCAG	0.677																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(28-30)tCc>tTc		caspase 2, apoptosis-related cysteine peptidase							34	39	37					7																	142985577		2202	4300	6502	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142985577C>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.29C>T	7.37:g.142985577C>T	ENSP00000312664:p.Ser10Phe					CASP2_ENST00000392925.2_Missense_Mutation_p.S10F	p.S10F	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			1	270	+	Melanoma(164;0.059)		10					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.29C>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121309	0.37436	.	.	ENSG00000106144	ENST00000310447;ENST00000392925	T;T	0.51574	4.49;0.7	4.29	3.4	0.38934	.	1.893230	0.02803	N	0.123411	T	0.37544	0.1007	N	0.19112	0.55	0.09310	N	1	B;B	0.14805	0.011;0.005	B;B	0.09377	0.004;0.002	T	0.24404	-1.0161	10	0.42905	T	0.14	.	9.3755	0.38281	0.2128:0.7872:0.0:0.0	.	10;10	E9PDN0;P42575	.;CASP2_HUMAN	F	10	ENSP00000312664:S10F;ENSP00000376656:S10F	ENSP00000312664:S10F	S	+	2	0	CASP2	142695699	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.237000	0.32695	1.024000	0.39682	0.650000	0.86243	TCC		0.677	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		12	20	0	0	0	1	0	12	20					T	142985577	C	T	142985577	3	4	135	1	0	0	0	0	1	0	0	0	2671	855	30	3	31	3	CASP2	7	142985577	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		142985577	16153086	10	2391										
TNKS	8658	broad.mit.edu	37	chr8	9627729	9627729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	cattggtagaccgagcgtcaAtgggctggcatatgctgaat	13	8	1	2			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr8:9627729A>G	ENST00000310430.6	+	26	3880	c.3854A>G	c.(3853-3855)aAt>aGt	p.N1285S	TNKS_ENST00000518281.1_Missense_Mutation_p.N1048S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1285	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCGAGCGTCAATGGGCTGGCA	0.473																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3853-3855)aAt>aGt		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							80	68	72					8																	9627729		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9627729A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3854A>G	8.37:g.9627729A>G	ENSP00000311579:p.Asn1285Ser					TNKS_ENST00000518281.1_Missense_Mutation_p.N1048S	p.N1285S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	26	3880	+			1285			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3854A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226964	0.39399	.	.	ENSG00000173273	ENST00000310430;ENST00000518281;ENST00000517770	T;T;T	0.12984	2.63;2.63;2.65	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.44542	1.39	0.80722	D	1	B	0.27229	0.172	B	0.27500	0.08	T	0.02553	-1.1142	10	0.56958	D	0.05	.	15.3416	0.74303	1.0:0.0:0.0:0.0	.	1285	O95271	TNKS1_HUMAN	S	1285;1048;30	ENSP00000311579:N1285S;ENSP00000429890:N1048S;ENSP00000428185:N30S	ENSP00000311579:N1285S	N	+	2	0	TNKS	9665139	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.277000	0.95755	2.098000	0.63641	0.533000	0.62120	AAT		0.473	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		16	33	0	0	0	1	0	16	33					G	9627729	A	G	9627729	3	3	135	1	0	0	0	0	1	0	0	0	16316	101	4	4	3956	4	TNKS	8	9627729	Missense_Mutation	SNP	A	TCGA-W2-A7HA-01B-11D-A35I-08		9627729	136736293	11	2392										
RET	5979	broad.mit.edu	37	chr10	43609939	43609939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	cacccacagatccactgtgcGacgagctgtgccgcacggtg	12	15	0	1	rs377767436|rs377767406|rs377767435		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr10:43609939G>T	ENST00000355710.3	+	11	2123	c.1891G>T	c.(1891-1893)Gac>Tac	p.D631Y	RET_ENST00000340058.5_Missense_Mutation_p.D631Y	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	631			D -> G (in thyroid carcinoma; somatic mutation; dbSNP:rs121913308).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L629_D631>H(2)|p.D627_L633>E(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCCACTGTGCGACGAGCTGTG	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	3	Complex - deletion inframe(3)	p.L629_D631>H(2)|p.D627_L633>E(1)	thyroid(3)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM005415	RET	M		c.(1891-1893)Gac>Tac		ret proto-oncogene	Sunitinib(DB01268)						113	72	85					10																	43609939		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43609939G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1891G>T	10.37:g.43609939G>T	ENSP00000347942:p.Asp631Tyr					RET_ENST00000340058.5_Missense_Mutation_p.D631Y	p.D631Y	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			11	2123	+		Ovarian(717;0.0423)	631		D -> G (in thyroid carcinoma; somatic mutation).			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1891G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847501	0.51164	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98889	-1.22;-5.21;-1.34	4.52	3.62	0.41486	.	0.138830	0.64402	D	0.000005	D	0.98770	0.9586	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.987;0.996	D	0.99004	1.0812	10	0.54805	T	0.06	.	12.4484	0.55664	0.0807:0.0:0.9193:0.0	.	377;631;631	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Y	631;148;631	ENSP00000347942:D631Y;ENSP00000419080:D148Y;ENSP00000344798:D631Y	ENSP00000344798:D631Y	D	+	1	0	RET	42929945	1.000000	0.71417	0.142000	0.22268	0.533000	0.34776	7.741000	0.84997	1.130000	0.42092	0.462000	0.41574	GAC		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		17	24	1	0	2.37509e-13	1	2.42787e-13	17	24					T	43609939	G	T	43609939	3	4	135	1	0	0	0	0	1	0	0	0	13235	1058	37	5	1933	5	RET	10	43609939	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		43609939	91924808	12	2393										
ARL2	402	broad.mit.edu	37	chr11	64781694	64781694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gggaccatggggctcctgacCattctgaagaagatgaagca	13	9	1	5			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:64781694C>T	ENST00000246747.4	+	1	110	c.15C>T	c.(13-15)acC>acT	p.T5T	ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T|RP11-399J13.3_ENST00000301886.3_Silent_p.T5T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	5					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGCTCCTGACCATTCTGAAGA	0.672																																						ENST00000246747.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						c.(13-15)acC>acT		ADP-ribosylation factor-like 2							21	23	23					11																	64781694		2190	4293	6483	SO:0001819	synonymous_variant	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64781694C>T	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.15C>T	11.37:g.64781694C>T						ARL2_ENST00000529384.1_Silent_p.T5T|ARL2_ENST00000533729.1_Silent_p.T5T|SNX15_ENST00000301886.3_3'UTR	p.T5T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN			1	110	+			5					G3V184|Q9BUK8	Silent	SNP	ENST00000246747.4	37	c.15C>T	CCDS8088.1																																																																																				0.672	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	8	0	0	0	1	0	8	8					T	64781694	C	T	64781694	2	4	135	1	0	0	0	0	0	0	0	1	933	581	21	3		3	ARL2	11	64781694	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		64781694	70224822	13	2394										
TBC1D10C	374403	broad.mit.edu	37	chr11	67177213	67177213	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	ggctccacctccttcctggaCacccgcttctgagaggacca	9	17	1	1			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:67177213C>G	ENST00000542590.1	+	9	1343	c.1329C>G	c.(1327-1329)gaC>gaG	p.D443E	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.D443E|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	443	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTTCCTGGACACCCGCTTCT	0.647																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1327-1329)gaC>gaG		TBC1 domain family, member 10C							14	17	16					11																	67177213		1892	3976	5868	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67177213C>G	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1329C>G	11.37:g.67177213C>G	ENSP00000443654:p.Asp443Glu					TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.D443E	p.D443E	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1358	+			443			Interaction with calcineurin.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.1329C>G	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392781	0.42410	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.08634	3.07;3.07	4.67	3.73	0.42828	.	0.000000	0.49305	D	0.000159	T	0.07548	0.0190	L	0.44542	1.39	0.28292	N	0.923494	B	0.23316	0.083	B	0.19666	0.026	T	0.17077	-1.0381	10	0.33141	T	0.24	.	7.8674	0.29545	0.0:0.8813:0.0:0.1186	.	443	Q8IV04	TB10C_HUMAN	E	443	ENSP00000310193:D443E;ENSP00000443654:D443E	ENSP00000310193:D443E	D	+	3	2	TBC1D10C	66933789	0.035000	0.19736	1.000000	0.80357	0.961000	0.63080	0.107000	0.15375	1.143000	0.42306	0.455000	0.32223	GAC		0.647	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		5	17	0	0	0	1	0	5	17					G	67177213	C	G	67177213	3	3	135	1	0	0	0	0	1	0	0	0	15597	477	17	5	1363	5	TBC1D10C	11	67177213	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	2395519	67177213	67829303	14	2395										
CARD18	59082	broad.mit.edu	37	chr11	105009793	105009793	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	taaaaattcttctctttttaCgcaagagttggtctgttgga	8	6	3	1	rs200342430		TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr11:105009793C>T	ENST00000530950.1	-	2	19	c.20G>A	c.(19-21)cGt>cAt	p.R7H	CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	7	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						TCTCTTTTTACGCAAGAGTTG	0.378													c|||	1	0.000199681	8e-04	0	5008	,	,		21676	0		0	False		,,,				2504	0					ENST00000530950.1																			0				central_nervous_system(1)|ovary(1)	2						c.(19-21)cGt>cAt		caspase recruitment domain family, member 18			HIS/ARG	2,3694		0,2,1846	107	94	98		20	-5.3	0	11		98	0,8210		0,0,4105	yes	missense	CARD18	NM_021571.3	29	0,2,5951	TT,TC,CC		0.0,0.0541,0.0168	probably-damaging	7/91	105009793	2,11904	1848	4105	5953	SO:0001583	missense	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009793C>T	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.20G>A	11.37:g.105009793C>T	ENSP00000436691:p.Arg7His					CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR	p.R7H	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN			2	19	-			7			CARD.		A2RRF8	Missense_Mutation	SNP	ENST00000530950.1	37	c.20G>A	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	0.053	-1.245739	0.01481	5.41E-4	0.0	ENSG00000255501	ENST00000530950	T	0.23754	1.89	2.63	-5.26	0.02772	DEATH-like (2);Caspase Recruitment (3);	0.640881	0.13227	U	0.403955	T	0.26882	0.0658	.	.	.	0.09310	N	0.999999	D	0.58620	0.983	P	0.56700	0.804	T	0.13202	-1.0518	9	0.40728	T	0.16	.	0.8843	0.01241	0.3726:0.1507:0.1116:0.3651	.	7	P57730	CAR18_HUMAN	H	7	ENSP00000436691:R7H	ENSP00000436691:R7H	R	-	2	0	CARD18	104515003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.698000	0.00826	-3.146000	0.00232	-3.850000	0.00018	CGT		0.378	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		6	55	0	0	0	1	0	6	55					T	105009793	C	T	105009793	3	4	135	1	0	0	0	0	1	0	0	0	2649	536	19	1	256	1	CARD18	11	105009793	Missense_Mutation	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	37832580	105009793	29996723	15	2396										
HSP90AA1	3320	broad.mit.edu	37	chr14	102551717	102551717	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gttcctccaagtactcagttTggtcttctttcaggtgtagg	10	9	4	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr14:102551717T>G	ENST00000216281.8	-	4	786	c.581A>C	c.(580-582)cAa>cCa	p.Q194P	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.Q316P	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	194					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GTACTCAGTTTGGTCTTCTTT	0.343																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(946-948)cAa>cCa		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						79	65	70					14																	102551717		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551717T>G	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.581A>C	14.37:g.102551717T>G	ENSP00000216281:p.Gln194Pro					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.Q15P|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.Q194P	p.Q316P	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			5	1228	-			194					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.947A>C	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	18.57	3.651988	0.67472	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.76839	-1.05;-1.05;2.49;-1.05	4.29	4.29	0.51040	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.90995	0.7168	H	0.95328	3.655	0.80722	D	1	P;D;P	0.71674	0.824;0.998;0.952	P;D;D	0.83275	0.84;0.996;0.921	D	0.93474	0.6821	10	0.87932	D	0	-26.5834	13.741	0.62847	0.0:0.0:0.0:1.0	.	15;316;194	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	P	194;316;15;125	ENSP00000216281:Q194P;ENSP00000335153:Q316P;ENSP00000396189:Q15P;ENSP00000450712:Q125P	ENSP00000216281:Q194P	Q	-	2	0	HSP90AA1	101621470	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	7.827000	0.86722	1.723000	0.51488	0.528000	0.53228	CAA		0.343	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		21	32	0	0	0	1	0	21	32					G	102551717	T	G	102551717	3	3	135	1	0	0	0	0	1	0	0	0	7401	1812	63	5	1649	5	HSP90AA1	14	102551717	Missense_Mutation	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		102551717	4797823	16	2397										
THBS1	7057	broad.mit.edu	37	chr15	39885298	39885298	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	aatgttgacatcagtgagacCgatttccgccgattccagat	9	10	1	3	rs139289744	byFrequency	TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr15:39885298C>T	ENST00000260356.5	+	18	3030	c.2865C>T	c.(2863-2865)acC>acT	p.T955T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	955					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCAGTGAGACCGATTTCCGCC	0.502													C|||	2	0.000399361	0.0015	0	5008	,	,		20786	0		0	False		,,,				2504	0					ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2863-2865)acC>acT		thrombospondin 1	Becaplermin(DB00102)	C		3,4397	6.2+/-15.9	0,3,2197	80	68	72		2865	-9	0.8	15	dbSNP_134	72	0,8594		0,0,4297	no	coding-synonymous	THBS1	NM_003246.2		0,3,6494	TT,TC,CC		0.0,0.0682,0.0231		955/1171	39885298	3,12991	2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885298C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2865C>T	15.37:g.39885298C>T							p.T955T	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	18	3030	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	955					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.2865C>T	CCDS32194.1																																																																																				0.502	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	36	0	0	0	1	0	5	36					T	39885298	C	T	39885298	2	4	135	1	0	0	0	0	0	0	0	1	15850	639	23	2		2	THBS1	15	39885298	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08		39885298	62646094	17	2398										
MSLN	10232	broad.mit.edu	37	chr16	816649	816649	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tctccttgccacaaggctccTcggcggcccctcccacaggt	9	19	1	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr16:816649T>G	ENST00000382862.3	+	13	1331	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	MSLN_ENST00000563941.1_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000545450.2_Intron	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	412					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				ACAAGGCTCCTCGGCGGCCCC	0.637																																						ENST00000382862.3																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(1234-1236)ccT>ccG		mesothelin							51	57	55					16																	816649		2186	4283	6469	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816649T>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1236T>G	16.37:g.816649T>G						MSLN_ENST00000563941.1_Intron|MSLN_ENST00000545450.2_Intron|MSLN_ENST00000566549.1_Intron	p.P412P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN			13	1331	+		Hepatocellular(780;0.00335)	412					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.1236T>G	CCDS32356.1																																																																																				0.637	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			17	115	0	0	0	1	0	17	115					G	816649	T	G	816649	2	3	135	1	0	0	0	0	0	0	0	1	9881	1538	54	5		5	MSLN	16	816649	Silent	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		816649	89538104	18	2399										
MMP2	4313	broad.mit.edu	37	chr16	55527178	55527178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tgatggcatcgctcagatccGtggtgagatcttcttcttca	10	10	5	3			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr16:55527178G>A	ENST00000219070.4	+	9	1954	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	MMP2_ENST00000570308.1_Missense_Mutation_p.R406H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	482	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCTCAGATCCGTGGTGAGATC	0.532																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1444-1446)cGt>cAt		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						217	198	205					16																	55527178		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55527178G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1445G>A	16.37:g.55527178G>A	ENSP00000219070:p.Arg482His					MMP2_ENST00000570308.1_Missense_Mutation_p.R406H|MMP2_ENST00000543485.1_Missense_Mutation_p.R406H|MMP2_ENST00000437642.2_Missense_Mutation_p.R432H	p.R482H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	9	1954	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	482			Hemopexin-like 1.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1445G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489611	0.84962	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.10382	2.88;2.88;2.88	5.11	5.11	0.69529	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66716	0.849;0.946	T	0.65479	-0.6158	10	0.59425	D	0.04	.	18.5345	0.91004	0.0:0.0:1.0:0.0	.	432;482	E9PE45;P08253	.;MMP2_HUMAN	H	482;406;432	ENSP00000219070:R482H;ENSP00000444143:R406H;ENSP00000394237:R432H	ENSP00000219070:R482H	R	+	2	0	MMP2	54084679	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.699000	0.68310	2.389000	0.81357	0.563000	0.77884	CGT		0.532	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			48	105	0	0	0	1	0	48	105					A	55527178	G	A	55527178	3	1	135	1	0	0	0	0	1	0	0	0	9658	1145	40	1	1486	1	MMP2	16	55527178	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	54710529	55527178	34827575	19	2400										
EFNB3	1949	broad.mit.edu	37	chr17	7612004	7612004	+	Frame_Shift_Del	DEL	A	A	-													0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tgtgtctgaaatgcccatggAaagagaccgaggggcagccc							TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:7612004delA	ENST00000226091.2	+	4	957	c.560delA	c.(559-561)gaafs	p.E187fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	187					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ATGCCCATGGAAAGAGACCGA	0.632																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(559-561)gafs		ephrin-B3							21	24	23					17																	7612004		2202	4289	6491	SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612004delA	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.560delA	17.37:g.7612004delA	ENSP00000226091:p.Glu187fs						p.E187fs	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			4	957	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	187					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Del	DEL	ENST00000226091.2	37	c.560delA	CCDS11120.1																																																																																				0.632	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		2	4						2	4	---	---	---	---	-	7612004	A	-	7612004	7	5	135	1	0	1	0	1	0	0	0	0	4957	246	9	0	574	0	EFNB3	17	7612004	Frame_Shift_Del	DEL	A	TCGA-W2-A7HA-01B-11D-A35I-08		7612004	73583206	20	2401										
CCL13	6357	broad.mit.edu	37	chr17	32685095	32685095	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tgctgacccaaaggagaagtGggtccagaattatatgaaac	11	7	0	4			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:32685095G>C	ENST00000225844.2	+	3	317	c.242G>C	c.(241-243)tGg>tCg	p.W81S		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	81					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAGGAGAAGTGGGTCCAGAAT	0.493																																						ENST00000225844.2																			0				large_intestine(1)|prostate(1)	2						c.(241-243)tGg>tCg		chemokine (C-C motif) ligand 13							72	70	71					17																	32685095		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685095G>C	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"Chemokine ligands", "Endogenous ligands"	10611	protein-coding gene	gene with protein product		601391	"small inducible cytokine subfamily A (Cys-Cys), member 13"	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.242G>C	17.37:g.32685095G>C	ENSP00000225844:p.Trp81Ser						p.W81S	NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN			3	317	+		Ovarian(249;0.0443)|Breast(31;0.151)	81					O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.242G>C	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	G	6.735	0.504466	0.12822	.	.	ENSG00000181374	ENST00000225844	T	0.09723	2.95	4.37	4.37	0.52481	Chemokine interleukin-8-like domain (3);	.	.	.	.	T	0.31575	0.0801	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.04678	-1.0934	8	0.66056	D	0.02	.	12.4063	0.55441	0.0:0.0:1.0:0.0	.	81	Q99616	CCL13_HUMAN	S	81	ENSP00000225844:W81S	ENSP00000225844:W81S	W	+	2	0	CCL13	29709208	1.000000	0.71417	0.892000	0.35008	0.369000	0.29798	2.126000	0.42026	1.958000	0.56883	0.561000	0.74099	TGG		0.493	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		16	22	0	0	0	1	0	16	22					C	32685095	G	C	32685095	3	2	135	1	0	0	0	0	1	0	0	0	2884	1357	47	5	252	5	CCL13	17	32685095	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	25073091	32685095	48510115	21	2402										
WNT3	7473	broad.mit.edu	37	chr17	44847186	44847186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tgttgtgcttgttcatggccGagcgcgcgtccggcctgttc	14	12	1	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:44847186G>A	ENST00000225512.5	-	3	713	c.551C>T	c.(550-552)tCg>tTg	p.S184L		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	184					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTTCATGGCCGAGCGCGCGTC	0.687																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(550-552)tCg>tTg		wingless-type MMTV integration site family, member 3							38	35	36					17																	44847186		2202	4299	6501	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44847186G>A	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.551C>T	17.37:g.44847186G>A	ENSP00000225512:p.Ser184Leu						p.S184L	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	713	-			184					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.551C>T	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411829	0.83340	.	.	ENSG00000108379	ENST00000225512	T	0.76186	-1.0	4.49	4.49	0.54785	.	0.136851	0.51477	D	0.000083	T	0.73225	0.3560	L	0.56340	1.77	0.80722	D	1	P	0.46578	0.88	P	0.44561	0.453	T	0.73563	-0.3943	10	0.32370	T	0.25	.	17.3636	0.87358	0.0:0.0:1.0:0.0	.	184	P56703	WNT3_HUMAN	L	184	ENSP00000225512:S184L	ENSP00000225512:S184L	S	-	2	0	WNT3	42202354	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	7.627000	0.83176	2.330000	0.79161	0.561000	0.74099	TCG		0.687	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		3	43	0	0	0	1	0	3	43					A	44847186	G	A	44847186	3	1	135	1	0	0	0	0	1	0	0	0	17385	1059	37	2	524	2	WNT3	17	44847186	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	12162091	44847186	36348024	22	2403										
HELZ	9931	broad.mit.edu	37	chr17	65074569	65074569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	ctactgctattggccgactcCgcgatctgcttgttaggcat	10	12	1	0			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr17:65074569C>T	ENST00000358691.5	-	33	5794	c.5628G>A	c.(5626-5628)gcG>gcA	p.A1876A	HELZ_ENST00000580168.1_Silent_p.A1877A	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1876						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGCCGACTCCGCGATCTGCT	0.612																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5626-5628)gcG>gcA		helicase with zinc finger							128	130	129					17																	65074569		1952	4152	6104	SO:0001819	synonymous_variant	9931							g.chr17:65074569C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5628G>A	17.37:g.65074569C>T						HELZ_ENST00000580168.1_Silent_p.A1877A	p.A1876A	NM_014877.3	NP_055692.2					33	5794	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.5628G>A	CCDS42374.1																																																																																				0.612	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		84	129	0	0	0	1	0	84	129					T	65074569	C	T	65074569	2	4	135	1	0	0	0	0	0	0	0	1	7049	639	23	2		2	HELZ	17	65074569	Silent	SNP	C	TCGA-W2-A7HA-01B-11D-A35I-08	20227383	65074569	16120641	23	2404										
FBXO15	201456	broad.mit.edu	37	chr18	71740825	71740825	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	actcttccttccgcatcaacGtagtccacgttgtatgtctg	7	13	3	0	rs367718529	byFrequency	TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr18:71740825G>A	ENST00000419743.2	-	10	1483	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	FBXO15_ENST00000269500.5_Silent_p.Y392Y|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	468						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CCGCATCAACGTAGTCCACGT	0.502													g|||	13	0.00259585	0	0	5008	,	,		19032	0		0	False		,,,				2504	0.0133					ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1174-1176)taC>taT		F-box protein 15			,	0,4406		0,0,2203	248	232	238		1404,1176	1	0	18		238	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FBXO15	NM_001142958.1,NM_152676.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	468/511,392/435	71740825	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201456							g.chr18:71740825G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1404C>T	18.37:g.71740825G>A						FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.Y468Y	p.Y392Y	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	10	1511	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	392					B3KST3	Silent	SNP	ENST00000419743.2	37	c.1176C>T	CCDS45884.1																																																																																				0.502	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		5	183	0	0	0	1	0	5	183					A	71740825	G	A	71740825	2	1	135	1	0	0	0	0	0	0	0	1	5728	1140	40	1		1	FBXO15	18	71740825	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		71740825	6336423	24	2405										
SYT3	84258	broad.mit.edu	37	chr19	51135613	51135613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	caagcccccaccactgggggGcagcaggagcaacccagagc	13	16	0	1			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr19:51135613G>A	ENST00000338916.4	-	2	1237	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	SYT3_ENST00000593901.1_Missense_Mutation_p.P202S|SYT3_ENST00000544769.1_Missense_Mutation_p.P202S|SYT3_ENST00000600079.1_Missense_Mutation_p.P202S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	202					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCACTGGGGGGCAGCAGGAGC	0.652																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(604-606)Ccc>Tcc		synaptotagmin III							43	47	45					19																	51135613		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135613G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.604C>T	19.37:g.51135613G>A	ENSP00000340914:p.Pro202Ser					SYT3_ENST00000600079.1_Missense_Mutation_p.P202S|SYT3_ENST00000593901.1_Missense_Mutation_p.P202S|SYT3_ENST00000544769.1_Missense_Mutation_p.P202S	p.P202S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1237	-		all_neural(266;0.131)	202					Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.604C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	7.929	0.740162	0.15642	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.59224	0.28;0.28	5.24	4.13	0.48395	.	0.381343	0.18153	U	0.150006	T	0.36358	0.0964	L	0.27053	0.805	0.42761	D	0.993807	P	0.39809	0.689	B	0.33254	0.16	T	0.28902	-1.0029	10	0.06494	T	0.89	.	12.6345	0.56675	0.0:0.0:0.8337:0.1662	.	202	Q9BQG1	SYT3_HUMAN	S	202	ENSP00000340914:P202S;ENSP00000438883:P202S	ENSP00000340914:P202S	P	-	1	0	SYT3	55827425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.110000	0.50352	2.605000	0.88082	0.655000	0.94253	CCC		0.652	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		18	31	0	0	0	1	0	18	31					A	51135613	G	A	51135613	3	1	135	1	0	0	0	0	1	0	0	0	15472	1203	42	3	1196	3	SYT3	19	51135613	Missense_Mutation	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		51135613	7993370	25	2406										
ZNF334	55713	broad.mit.edu	37	chr20	45130415	45130415	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	ttgctgacggcatgcccatgTtcactacactcataaagatt	7	11	2	2			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr20:45130415T>C	ENST00000347606.4	-	5	1745	c.1563A>G	c.(1561-1563)gaA>gaG	p.E521E	ZNF334_ENST00000457685.2_Silent_p.E483E|ZNF334_ENST00000593880.1_Silent_p.E544E	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGCCCATGTTCACTACACT	0.403																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1447-1449)gaA>gaG		zinc finger protein 334							221	204	210					20																	45130415		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130415T>C	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1563A>G	20.37:g.45130415T>C						ZNF334_ENST00000347606.4_Silent_p.E521E|ZNF334_ENST00000593880.1_Silent_p.E544E	p.E483E			Q9HCZ1	ZN334_HUMAN			6	2772	-		Myeloproliferative disorder(115;0.0122)	521					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.1449A>G	CCDS33480.1																																																																																				0.403	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			5	230	0	0	0	1	0	5	230					C	45130415	T	C	45130415	2	2	135	1	0	0	0	0	0	0	0	1	17848	1722	60	4		4	ZNF334	20	45130415	Silent	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08		45130415	17895105	26	2407										
TRAPPC10	7109	broad.mit.edu	37	chr21	45518255	45518255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	cagacattatacaacgtgaaGgctgagatctttcccccttc	7	12	1	3			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chr21:45518255G>A	ENST00000291574.4	+	21	3361	c.3186G>A	c.(3184-3186)aaG>aaA	p.K1062K		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1062					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACAACGTGAAGGCTGAGATCT	0.502																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3184-3186)aaG>aaA		trafficking protein particle complex 10							154	148	150					21																	45518255		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45518255G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3186G>A	21.37:g.45518255G>A							p.K1062K	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			21	3361	+			1062					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.3186G>A	CCDS13704.1																																																																																				0.502	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		11	79	0	0	0	1	0	11	79					A	45518255	G	A	45518255	2	1	135	1	0	0	0	0	0	0	0	1	16454	991	35	3		3	TRAPPC10	21	45518255	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08		45518255	2611640	27	2408										
KLHL34	257240	broad.mit.edu	37	chrX	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-													0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	acgttctgggtgagctcccaCtcctcctcctcctcctcttc							TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65														17	0.00450331	0.0061	0	3775	,	,		12349	0.006		0	False		,,,				2504	0.0031					ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(985-987)del		kelch-like family member 34				3,72,3595		0,0,3,0,6,40,20,1530,492						4.9	1			25	6,150,6231		0,0,3,3,3,93,51,2244,1647	no	codingComplex	KLHL34	NM_153270.1		0,0,6,3,9,133,71,3774,2139	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.4425,2.0436,2.2969				9,222,9826				SO:0001651	inframe_deletion	257240							g.chrX:21674920_21674922delCTC	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.985_987delGAG	X.37:g.21674929_21674931delCTC	ENSP00000368813:p.Glu329del						p.E329del	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1526_1528	-			329			Glu-rich.			In_Frame_Del	DEL	ENST00000379499.2	37	c.985_987delGAG	CCDS14199.1																																																																																				0.65	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		2	4						2	4	---	---	---	---	-	21674922	CTC	-	21674920	7	5	135	1	0	1	0	1	0	0	0	0	8387	564	20	0	951	0	KLHL34	23	21674920	In_Frame_Del	DEL	CTC	TCGA-W2-A7HA-01B-11D-A35I-08		21674920	133595640	28	2409										
TAB3	257397	broad.mit.edu	37	chrX	30872733	30872733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	tagatgctgtgtatggaagaTaggctactgaatggcttccc	12	7	0	3			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:30872733T>C	ENST00000378933.1	-	3	1226	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	350	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|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)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTATGGAAGATAGGCTACTGA	0.433																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(1048-1050)tAt>tGt		TGF-beta activated kinase 1/MAP3K7 binding protein 3							140	129	132					X																	30872733		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872733T>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1049A>G	X.37:g.30872733T>C	ENSP00000368215:p.Tyr350Cys					TAB3_ENST00000378930.3_Missense_Mutation_p.Y350C|TAB3_ENST00000378932.2_Missense_Mutation_p.Y350C|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Y350C	p.Y350C	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1226	-			350			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.1049A>G	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648904	0.29336	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.77	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	L	0.27053	0.805	0.36396	D	0.862833	D;D	0.71674	0.998;0.997	D;P	0.67103	0.949;0.788	T	0.82655	-0.0350	10	0.52906	T	0.07	-2.0E-4	14.1229	0.65201	0.0:0.0:0.0:1.0	.	350;350	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	C	350	ENSP00000368215:Y350C;ENSP00000368212:Y350C;ENSP00000288422:Y350C;ENSP00000368214:Y350C	ENSP00000288422:Y350C	Y	-	2	0	TAB3	30782654	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.110000	0.50352	1.782000	0.52362	0.433000	0.28618	TAT		0.433	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		3	58	0	0	0	1	0	3	58					C	30872733	T	C	30872733	3	2	135	1	0	0	0	0	1	0	0	0	15494	1406	49	4	1113	4	TAB3	23	30872733	Missense_Mutation	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08	9197813	30872733	124397827	29	2410										
BRWD3	254065	broad.mit.edu	37	chrX	79999587	79999587	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gactgcaacgggtgcacaagTtcgaagacaccatactctta	9	11	1	1			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:79999587T>C	ENST00000373275.4	-	8	973	c.757A>G	c.(757-759)Act>Gct	p.T253A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	253					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGTGCACAAGTTCGAAGACAC	0.403																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(757-759)Act>Gct		bromodomain and WD repeat domain containing 3							137	116	123					X																	79999587		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999587T>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.757A>G	X.37:g.79999587T>C	ENSP00000362372:p.Thr253Ala						p.T253A	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			8	973	-			253					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.757A>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361755	0.61403	.	.	ENSG00000165288	ENST00000373275	T	0.22743	1.94	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.130388	0.49916	D	0.000125	T	0.21387	0.0515	L	0.53561	1.675	0.51482	D	0.999928	B	0.26975	0.165	B	0.27608	0.081	T	0.03503	-1.1030	9	.	.	.	-14.2273	13.2009	0.59767	0.0:0.0:0.0:1.0	.	253	Q6RI45	BRWD3_HUMAN	A	253	ENSP00000362372:T253A	.	T	-	1	0	BRWD3	79886243	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.106000	0.71511	1.757000	0.51966	0.339000	0.21740	ACT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		15	9	0	0	0	1	0	15	9					C	79999587	T	C	79999587	3	2	135	1	0	0	0	0	1	0	0	0	1526	1725	60	4	4787	4	BRWD3	23	79999587	Missense_Mutation	SNP	T	TCGA-W2-A7HA-01B-11D-A35I-08	49126854	79999587	75270973	30	2411										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0645161290322581	2	1	0.730588235294118	0	0.811764705882353	0.4	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-W2-A7HA-01B-11D-A35I-08	TCGA-W2-A7HA-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	128bdc90-ed54-4b8e-bfcb-b8577370c799	89e66736-c853-4d3c-b607-ac112afd81a6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	65	0	0	0	1	0	3	65					A	150156360	G	A	150156360	2	1	135	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-W2-A7HA-01B-11D-A35I-08	70156773	150156360	5114200	31	2412										
HTT	3064	broad.mit.edu	37	chr4	3237362	3237362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaccactgtgccctcagagGcctggagcgcctcctgctct	10	16	2	1			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr4:3237362G>T	ENST00000355072.5	+	63	8787	c.8642G>T	c.(8641-8643)gGc>gTc	p.G2881V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2881					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCCTCAGAGGCCTGGAGCGC	0.597																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8641-8643)gGc>gTc		huntingtin							41	46	44					4																	3237362		2104	4212	6316	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3237362G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8642G>T	4.37:g.3237362G>T	ENSP00000347184:p.Gly2881Val						p.G2881V	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	63	8787	+		all_epithelial(65;0.18)	2881					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.8642G>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453972	0.84209	.	.	ENSG00000197386	ENST00000355072	T	0.69040	-0.37	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85375	0.1116	10	0.87932	D	0	.	16.7442	0.85467	0.0:0.0:1.0:0.0	.	2881	P42858	HD_HUMAN	V	2881	ENSP00000347184:G2881V	ENSP00000347184:G2881V	G	+	2	0	HTT	3207160	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	9.208000	0.95075	2.502000	0.84385	0.462000	0.41574	GGC		0.597	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		10	23	1	0	4.68919e-08	1	4.96502e-08	10	23					T	3237362	G	T	3237362	3	4	136	1	0	0	0	0	1	0	0	0	7457	1203	42	5	8892	5	HTT	4	3237362	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		3237362	187916914	1	2413										
AFF4	27125	broad.mit.edu	37	chr5	132272835	132272835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgaatttcctgattccgcCtttcccgttctttcatacgc	6	14	2	2			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr5:132272835C>T	ENST00000265343.5	-	2	426	c.47G>A	c.(46-48)aGg>aAg	p.R16K	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.R16K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	16					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGATTCCGCCTTTCCCGTTC	0.433																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(46-48)aGg>aAg		AF4/FMR2 family, member 4							90	73	79					5																	132272835		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132272835C>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.47G>A	5.37:g.132272835C>T	ENSP00000265343:p.Arg16Lys					AFF4_ENST00000378595.3_Missense_Mutation_p.R16K|AFF4_ENST00000491831.1_5'UTR	p.R16K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	426	-		all_cancers(142;0.145)|Breast(839;0.198)	16					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.47G>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726126	0.96847	.	.	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	T;T;T	0.77358	-1.09;-1.09;-1.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.84082	2.675	0.80722	D	1	D;D;D	0.61697	0.959;0.99;0.979	D;D;D	0.74023	0.937;0.979;0.982	D	0.89164	0.3532	10	0.52906	T	0.07	-16.3092	19.8978	0.96973	0.0:1.0:0.0:0.0	.	16;16;16	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	K	16	ENSP00000265343:R16K;ENSP00000367858:R16K;ENSP00000395268:R16K	ENSP00000265343:R16K	R	-	2	0	AFF4	132300734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.703000	0.92315	0.557000	0.71058	AGG		0.433	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		5	35	0	0	0	1	0	5	35					T	132272835	C	T	132272835	3	4	136	1	0	0	0	0	1	0	0	0	359	681	24	3	3524	3	AFF4	5	132272835	Missense_Mutation	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		132272835	48642425	2	2414										
HIST1H2BC	8347	broad.mit.edu	37	chr6	26123939	26123939	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaatatgtcgttaacgaaaGaattcatgatgcccatggcc	8	9	1	2			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr6:26123939G>T	ENST00000314332.5	-	1	199	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S65Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTTAACGAAAGAATTCATGAT	0.562																																						ENST00000314332.5																			1	Substitution - Missense(1)	p.S65Y(1)	large_intestine(1)	NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						c.(193-195)tCt>tAt		histone cluster 1, H2bc							161	152	155					6																	26123939		2203	4300	6503	SO:0001583	missense	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123939G>T	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"Histones / Replication-dependent"	4757	protein-coding gene	gene with protein product		602847	"H2B histone family, member L", "histone 1, H2bc"	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.194C>A	6.37:g.26123939G>T	ENSP00000321744:p.Ser65Tyr					HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65Y	p.S65Y			P62807	H2B1C_HUMAN			1	199	-			65					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000314332.5	37	c.194C>A	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.093851	0.76870	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.71103	-0.54;-0.54	5.61	5.61	0.85477	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83640	0.5298	.	.	.	0.46279	D	0.998964	D	0.89917	1.0	D	0.85130	0.997	D	0.84829	0.0801	8	0.87932	D	0	.	18.9929	0.92801	0.0:0.0:1.0:0.0	.	65	P62807	H2B1C_HUMAN	Y	65	ENSP00000321744:S65Y;ENSP00000380180:S65Y	ENSP00000321744:S65Y	S	-	2	0	HIST1H2BC	26231918	1.000000	0.71417	0.993000	0.49108	0.146000	0.21551	7.708000	0.84633	2.799000	0.96334	0.650000	0.86243	TCT		0.562	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		50	115	1	0	3.21987e-24	1	3.62236e-24	50	115					T	26123939	G	T	26123939	3	4	136	1	0	0	0	0	1	0	0	0	7142	942	33	5	190	5	HIST1H2BC	6	26123939	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		26123939	144991128	3	2415										
DBF4	10926	broad.mit.edu	37	chr7	87514300	87514302	+	In_Frame_Del	DEL	GAA	GAA	-													0	0	1	0	0	0	1	1	0	ttgttctcttctagcgagttGaagaatttctcagcaaagat							TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr7:87514300_87514302delGAA	ENST00000265728.1	+	3	730_732	c.226_228delGAA	c.(226-228)gaadel	p.E77del		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	77	BRCT 1.				DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTAGCGAGTTGAAGAATTTCTCA	0.35																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(226-228)del		DBF4 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87514300_87514302delGAA	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.226_228delGAA	7.37:g.87514303_87514305delGAA	ENSP00000265728:p.Glu77del						p.E77del	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			3	730_732	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	77			BRCT 1.		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	In_Frame_Del	DEL	ENST00000265728.1	37	c.226_228delGAA	CCDS5611.1																																																																																				0.35	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		10	41						10	41	---	---	---	---	-	87514302	GAA	-	87514300	7	5	136	1	0	1	0	1	0	0	0	0	4248	1291	45	0	236	0	DBF4	7	87514300	In_Frame_Del	DEL	GAA	TCGA-W2-A7HB-01A-11D-A35I-08		87514300	71624363	4	2416										
FAM167A	83648	broad.mit.edu	37	chr8	11282013	11282013	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccagctcatcccgctcctCcagctcgtaggtggcatcgt	11	16	1	0			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr8:11282013C>A	ENST00000528897.1	-	3	1133	c.514G>T	c.(514-516)Gag>Tag	p.E172*	C8orf12_ENST00000529305.1_Intron|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000284486.4_Nonsense_Mutation_p.E172*			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	172										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCCCGCTCCTCCAGCTCGTAG	0.577																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(514-516)Gag>Tag		family with sequence similarity 167, member A							186	132	150					8																	11282013		2203	4300	6503	SO:0001587	stop_gained	83648							g.chr8:11282013C>A		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"chromosome 8 open reading frame 13"	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.514G>T	8.37:g.11282013C>A	ENSP00000436655:p.Glu172*					FAM167A_ENST00000531564.1_5'UTR|FAM167A_ENST00000528897.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000534308.1_Nonsense_Mutation_p.E172*|C8orf12_ENST00000529305.1_Intron	p.E172*	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			3	1052	-			172					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Nonsense_Mutation	SNP	ENST00000528897.1	37	c.514G>T	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	41	8.775364	0.98950	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897	.	.	.	5.04	5.04	0.67666	.	0.116585	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2231	17.6189	0.88075	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000284486:E172X	E	-	1	0	FAM167A	11319423	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.502000	0.66956	2.627000	0.88993	0.650000	0.86243	GAG		0.577	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			4	47	1	0	1	1	1	4	47					A	11282013	C	A	11282013	4	1	136	1	0	0	0	0	0	1	0	0	5483	864	30	5	134	5	FAM167A	8	11282013	Nonsense_Mutation	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		11282013	135082009	5	2417										
MED30	90390	broad.mit.edu	37	chr8	118533175	118533175	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcccttcgccgggccccaGgctcagcaggccgcccggga	16	18	1	0			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr8:118533175G>C	ENST00000297347.3	+	1	224	c.60G>C	c.(58-60)caG>caC	p.Q20H	MED30_ENST00000522839.1_Missense_Mutation_p.Q20H	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	20					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCGGGCCCCAGGCTCAGCAGG	0.706																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(58-60)caG>caC		mediator complex subunit 30							13	14	14					8																	118533175		2182	4271	6453	SO:0001583	missense	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118533175G>C	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"thyroid hormone receptor associated protein 6"	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.60G>C	8.37:g.118533175G>C	ENSP00000297347:p.Gln20His					MED30_ENST00000522839.1_Missense_Mutation_p.Q20H	p.Q20H	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	224	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		20					C6GKU9	Missense_Mutation	SNP	ENST00000297347.3	37	c.60G>C	CCDS6323.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170369	0.57584	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.52	1.3	0.21679	.	0.111534	0.64402	D	0.000007	T	0.46737	0.1408	L	0.47716	1.5	0.58432	D	0.999998	P;D	0.56521	0.932;0.976	P;P	0.47528	0.549;0.549	T	0.36866	-0.9730	9	0.45353	T	0.12	-8.9446	8.5281	0.33317	0.4227:0.0:0.5773:0.0	.	20;20	C6GKU9;Q96HR3	.;MED30_HUMAN	H	20	.	ENSP00000297347:Q20H	Q	+	3	2	MED30	118602356	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	1.901000	0.39838	0.313000	0.23062	0.563000	0.77884	CAG		0.706	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		5	24	0	0	0	1	0	5	24					C	118533175	G	C	118533175	3	2	136	1	0	0	0	0	1	0	0	0	9448	991	35	5	62	5	MED30	8	118533175	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08	107251162	118533175	27830847	6	2418										
BARHL1	56751	broad.mit.edu	37	chr9	135458232	135458232	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gactccattctctcccaccgCgcgggcagccccgcccttcc	8	22	1	0			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr9:135458232C>T	ENST00000263610.2	+	1	661	c.48C>T	c.(46-48)cgC>cgT	p.R16R	BARHL1_ENST00000542090.1_Silent_p.R16R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	16					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCTCCCACCGCGCGGGCAGCC	0.657																																						ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(46-48)cgC>cgT		BarH-like homeobox 1							53	56	55					9																	135458232		2203	4300	6503	SO:0001819	synonymous_variant	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135458232C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"Homeoboxes / ANTP class : NKL subclass"	953	protein-coding gene	gene with protein product		605211	"BarH (Drosophila)-like 1"				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.48C>T	9.37:g.135458232C>T						BARHL1_ENST00000542090.1_Silent_p.R16R	p.R16R	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	1	661	+			16					Q5T6V2|Q9NY88	Silent	SNP	ENST00000263610.2	37	c.48C>T	CCDS6950.1																																																																																				0.657	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			24	62	0	0	0	1	0	24	62					T	135458232	C	T	135458232	2	4	136	1	0	0	0	0	0	0	0	1	1313	755	27	1		1	BARHL1	9	135458232	Silent	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		135458232	5755199	7	2419										
KDM5A	5927	broad.mit.edu	37	chr12	464375	464375	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctcatttgcatgttaaatgcGtctgacctgttggtaacttt	8	8	2	1	rs377672033		TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr12:464375G>A	ENST00000399788.2	-	7	1181	c.819C>T	c.(817-819)gaC>gaT	p.D273D	KDM5A_ENST00000382815.4_Silent_p.D273D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	273					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTTAAATGCGTCTGACCTGT	0.373			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"lysine (K)-specific demethylase 5A, JARID1A"			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(817-819)gaC>gaT		lysine (K)-specific demethylase 5A		G		0,3736		0,0,1868	141	133	136		819	-2	1	12		136	1,8199		0,1,4099	no	coding-synonymous	KDM5A	NM_001042603.1		0,1,5967	AA,AG,GG		0.0122,0.0,0.0084		273/1691	464375	1,11935	1868	4100	5968	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:464375G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.819C>T	12.37:g.464375G>A						KDM5A_ENST00000382815.4_Silent_p.D273D	p.D273D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			7	1181	-			273					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.819C>T	CCDS41736.1																																																																																				0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		6	67	0	0	0	1	0	6	67					A	464375	G	A	464375	2	1	136	1	0	0	0	0	0	0	0	1	8133	1136	40	1		1	KDM5A	12	464375	Silent	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		464375	133387520	8	2420										
MAPK6	5597	broad.mit.edu	37	chr15	52339183	52339183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	taggtgactttggtcttgcaCggatcatggatcctcattat	10	8	3	1			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr15:52339183C>T	ENST00000261845.5	+	2	1333	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTCTTGCACGGATCATGGA	0.383																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(526-528)Cgg>Tgg		mitogen-activated protein kinase 6							92	93	93					15																	52339183		2177	4278	6455	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52339183C>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.526C>T	15.37:g.52339183C>T	ENSP00000261845:p.Arg176Trp						p.R176W	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	2	1333	+			176			Protein kinase.		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.526C>T	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806578	0.70682	.	.	ENSG00000069956	ENST00000261845	T	0.68025	-0.3	5.53	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	H	0.95114	3.625	0.80722	D	1	B	0.30741	0.293	B	0.22386	0.039	T	0.80830	-0.1207	10	0.87932	D	0	-2.9694	14.8169	0.70041	0.0:0.9295:0.0:0.0705	.	176	Q16659	MK06_HUMAN	W	176	ENSP00000261845:R176W	ENSP00000261845:R176W	R	+	1	2	MAPK6	50126475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.882000	0.56160	2.636000	0.89361	0.650000	0.86243	CGG		0.383	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		24	64	0	0	0	1	0	24	64					T	52339183	C	T	52339183	3	4	136	1	0	0	0	0	1	0	0	0	9281	527	19	1	528	1	MAPK6	15	52339183	Missense_Mutation	SNP	C	TCGA-W2-A7HB-01A-11D-A35I-08		52339183	50192209	9	2421										
PSG7	5676	broad.mit.edu	37	chr19	43439887	43439887	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttcaatcgtgacttgggcTgtggtgggcgggttccagaa	16	8	1	2			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chr19:43439887T>A	ENST00000406070.2	-	0	195				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGACTTGGGCTGTGGTGGGCG	0.493																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							137	142	141					19																	43439887		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43439887T>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439887T>A						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	195	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		5	182	0	0	0	1	0	5	182					A	43439887	T	A	43439887	1	1	136	0	1	0	0	0	0	0	0	0	12660	1567	55	5		5	PSG7	19	43439887	RNA	SNP	T	TCGA-W2-A7HB-01A-11D-A35I-08		43439887	15689096	10	2422										
ATP1B4	23439	broad.mit.edu	37	chrX	119505020	119505020	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	acttcaacgtttctgaacccGacacttggcagcattatgtg	8	11	2	1			TCGA-W2-A7HB-01A-11D-A35I-08	TCGA-W2-A7HB-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96444e23-d731-4c24-b5d0-8a697a0bf183	e99ae8f1-1162-48f6-ad7d-289880357334	g.chrX:119505020G>C	ENST00000218008.3	+	4	574	c.517G>C	c.(517-519)Gac>Cac	p.D173H	ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H|ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	173					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCTGAACCCGACACTTGGCA	0.428																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(517-519)Gac>Cac		ATPase, Na+/K+ transporting, beta 4 polypeptide							129	107	115					X																	119505020		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119505020G>C	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.517G>C	X.37:g.119505020G>C	ENSP00000218008:p.Asp173His					ATP1B4_ENST00000539306.1_Missense_Mutation_p.D130H|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D169H	p.D173H	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			4	574	+			173					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.517G>C	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085970	0.36758	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.30182	1.54;1.54;1.54	5.51	4.53	0.55603	.	0.225560	0.51477	D	0.000087	T	0.16599	0.0399	N	0.16903	0.455	0.31542	N	0.659784	B;B;B;B	0.14012	0.009;0.001;0.009;0.007	B;B;B;B	0.22386	0.039;0.013;0.039;0.023	T	0.05178	-1.0901	10	0.41790	T	0.15	-10.9426	3.907	0.09186	0.2725:0.0:0.7275:0.0	.	130;138;173;169	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	H	173;169;130	ENSP00000218008:D173H;ENSP00000355346:D169H;ENSP00000443334:D130H	ENSP00000218008:D173H	D	+	1	0	ATP1B4	119389048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.807000	0.62576	2.293000	0.77203	0.544000	0.68410	GAC		0.428	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		11	52	0	0	0	1	0	11	52					C	119505020	G	C	119505020	3	2	136	1	0	0	0	0	1	0	0	0	1135	1058	37	5	531	5	ATP1B4	23	119505020	Missense_Mutation	SNP	G	TCGA-W2-A7HB-01A-11D-A35I-08		119505020	35765540	11	2423										
MYSM1	114803	broad.mit.edu	37	chr1	59147514	59147514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gttctggtgttttagcttggCgcccctcaaaaaactcagga	10	10	3	0	rs202116499		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:59147514C>T	ENST00000472487.1	-	8	1241	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	401	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTTAGCTTGGCGCCCCTCAAA	0.323																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1201-1203)cGc>cAc		Myb-like, SWIRM and MPN domains 1		C	HIS/ARG	0,3606		0,0,1803	55	50	52		1202	4	0.9	1		52	2,8144		0,2,4071	yes	missense	MYSM1	NM_001085487.2	29	0,2,5874	TT,TC,CC		0.0246,0.0,0.017	probably-damaging	401/829	59147514	2,11750	1803	4073	5876	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147514C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1202G>A	1.37:g.59147514C>T	ENSP00000418734:p.Arg401His					MYSM1_ENST00000493821.1_5'UTR	p.R401H	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			8	1241	-	all_cancers(7;9.36e-06)		401			SWIRM.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1202G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377019	0.82682	0.0	2.46E-4	ENSG00000162601	ENST00000472487	T	0.27402	1.67	4.96	4.02	0.46733	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.86178	2.8	0.50039	D	0.99984	D	0.89917	1.0	D	0.91635	0.999	T	0.62300	-0.6883	10	0.54805	T	0.06	-5.2691	12.9823	0.58570	0.0:0.9196:0.0:0.0804	.	401	Q5VVJ2	MYSM1_HUMAN	H	401	ENSP00000418734:R401H	ENSP00000418734:R401H	R	-	2	0	MYSM1	58920102	1.000000	0.71417	0.869000	0.34112	0.978000	0.69477	5.616000	0.67709	2.569000	0.86673	0.585000	0.79938	CGC		0.323	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		3	49	0	0	0	1	0	3	49					T	59147514	C	T	59147514	3	4	137	1	0	0	0	0	1	0	0	0	10101	768	27	1	1336	1	MYSM1	1	59147514	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		59147514	190103107	1	2424										
ZNF672	79894	broad.mit.edu	37	chr1	249142441	249142441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	cggccgccgcttcagcgaccGctcggacctcaccaagcacc	10	20	2	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:249142441G>A	ENST00000306562.3	+	4	1714	c.968G>A	c.(967-969)cGc>cAc	p.R323H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTCAGCGACCGCTCGGACCTC	0.682																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(967-969)cGc>cAc		zinc finger protein 672							16	17	17					1																	249142441		2199	4297	6496	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142441G>A	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.968G>A	1.37:g.249142441G>A	ENSP00000421915:p.Arg323His						p.R323H	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1714	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	323					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.968G>A	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896756	0.52121	.	.	ENSG00000171161	ENST00000306562	T	0.36157	1.27	3.3	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36815	U	0.002395	T	0.20210	0.0486	L	0.32530	0.975	0.21445	N	0.999689	B	0.29612	0.251	B	0.13407	0.009	T	0.12319	-1.0552	9	.	.	.	.	7.068	0.25164	0.2367:0.0:0.7633:0.0	.	323	Q499Z4	ZN672_HUMAN	H	323	ENSP00000421915:R323H	.	R	+	2	0	ZNF672	247109064	0.000000	0.05858	0.915000	0.36163	0.841000	0.47740	-0.357000	0.07651	0.406000	0.25560	0.561000	0.74099	CGC		0.682	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		2	0	0	0	0	1	0	2	0					A	249142441	G	A	249142441	3	1	137	1	0	0	0	0	1	0	0	0	18076	1087	38	1	970	1	ZNF672	1	249142441	Missense_Mutation	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08	189994927	249142441	108180	2	2425										
PXDN	7837	broad.mit.edu	37	chr2	1652633	1652633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	tcgttggcgcggtggtccccGgccaggaagcaggggatggg	20	10	0	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:1652633G>A	ENST00000252804.4	-	17	2969	c.2919C>T	c.(2917-2919)gcC>gcT	p.A973A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	973					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGGTCCCCGGCCAGGAAGC	0.692																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2917-2919)gcC>gcT		peroxidasin homolog (Drosophila)							16	17	16					2																	1652633		2097	4189	6286	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652633G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2919C>T	2.37:g.1652633G>A							p.A973A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2969	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	973					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2919C>T	CCDS46221.1																																																																																				0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		2	0	0	0	0	1	0	2	0					A	1652633	G	A	1652633	2	1	137	1	0	0	0	0	0	0	0	1	12847	1103	39	2		2	PXDN	2	1652633	Silent	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08		1652633	241546740	3	2426										
KIF3C	3797	broad.mit.edu	37	chr2	26204068	26204068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	ggtccacgaggttgagcttgCccactcggatgtggtcctgg	15	11	0	1			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:26204068C>T	ENST00000264712.3	-	1	1298	c.719G>A	c.(718-720)gGc>gAc	p.G240D	KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	240	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGAGCTTGCCCACTCGGAT	0.627																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(718-720)gGc>gAc		kinesin family member 3C							52	52	52					2																	26204068		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204068C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.719G>A	2.37:g.26204068C>T	ENSP00000264712:p.Gly240Asp					KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D	p.G240D	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1298	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		240			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.719G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627242	0.66901	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.78595	-1.19;-1.19	5.67	4.8	0.61643	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91472	0.7308	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93415	0.6772	10	0.87932	D	0	.	12.3614	0.55205	0.0:0.9182:0.0:0.0818	.	240;240	B7ZM25;O14782	.;KIF3C_HUMAN	D	240;46;240	ENSP00000264712:G240D;ENSP00000385030:G240D	ENSP00000264712:G240D	G	-	2	0	KIF3C	26057572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.047000	0.71038	1.396000	0.46663	0.655000	0.94253	GGC		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			3	46	0	0	0	1	0	3	46					T	26204068	C	T	26204068	3	4	137	1	0	0	0	0	1	0	0	0	8302	739	26	3	1694	3	KIF3C	2	26204068	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	24551435	26204068	216995305	4	2427										
TGOLN2	10618	broad.mit.edu	37	chr2	85554507	85554507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gtgctgtcttttgtggtctgCgcctccgaacccgacttgct	11	13	2	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:85554507C>T	ENST00000409232.3	-	2	409	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGTGGTCTGCGCCTCCGAAC	0.572																																						ENST00000377386.3																			0											c.(346-348)gcG>gcA		trans-golgi network protein 2							384	382	383					2																	85554507		1999	4165	6164	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554507C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.348G>A	2.37:g.85554507C>T						TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A	p.A116A			O43493	TGON2_HUMAN			2	810	-			116			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.348G>A	CCDS56126.1																																																																																				0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	909	0	0	0	1	0	6	909					T	85554507	C	T	85554507	2	4	137	1	0	0	0	0	0	0	0	1	15833	755	27	1		1	TGOLN2	2	85554507	Silent	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	59350439	85554507	157644866	5	2428										
STK17B	9262	broad.mit.edu	37	chr2	197002362	197002362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	atgatcctgagtttgagaggAactggaagtttcttcagggt	13	5	2	3			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:197002362A>G	ENST00000263955.4	-	8	1214	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	STK17B_ENST00000409228.1_Missense_Mutation_p.S310P	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	310	Poly-Ser.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GTTTGAGAGGAACTGGAAGTT	0.413																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(928-930)Tcc>Ccc		serine/threonine kinase 17b							111	109	110					2																	197002362		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197002362A>G	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.928T>C	2.37:g.197002362A>G	ENSP00000263955:p.Ser310Pro					STK17B_ENST00000409228.1_Missense_Mutation_p.S310P	p.S310P	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		8	1214	-			310			Poly-Ser.			Missense_Mutation	SNP	ENST00000263955.4	37	c.928T>C	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	A	7.623	0.677307	0.14841	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.49139	0.79;0.79	4.84	0.993	0.19825	Protein kinase-like domain (1);	0.275586	0.26122	N	0.026203	T	0.20495	0.0493	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.16896	T	0.51	.	5.3557	0.16059	0.5684:0.2791:0.1525:0.0	.	310	O94768	ST17B_HUMAN	P	310	ENSP00000263955:S310P;ENSP00000386853:S310P	ENSP00000263955:S310P	S	-	1	0	STK17B	196710607	0.462000	0.25791	0.237000	0.24090	0.882000	0.50991	0.787000	0.26858	0.021000	0.15133	0.528000	0.53228	TCC		0.413	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			25	76	0	0	0	1	0	25	76					G	197002362	A	G	197002362	3	3	137	1	0	0	0	0	1	0	0	0	15290	246	9	4	194	4	STK17B	2	197002362	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08	111447855	197002362	46197011	6	2429										
BZW1	9689	broad.mit.edu	37	chr2	201681960	201681960	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	tataatgaaaatttggttaaAgaaggtaatcagccttaaag	8	3	1	2			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:201681960A>G	ENST00000409600.1	+	6	989	c.534A>G	c.(532-534)aaA>aaG	p.K178K	BZW1_ENST00000452790.2_Silent_p.K210K|BZW1_ENST00000409226.1_Silent_p.K182K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATTTGGTTAAAGAAGGTAATC	0.398																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(532-534)aaA>aaG		basic leucine zipper and W2 domains 1							99	93	95					2																	201681960		1860	4099	5959	SO:0001819	synonymous_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201681960A>G	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.534A>G	2.37:g.201681960A>G						BZW1_ENST00000409226.1_Silent_p.K182K|BZW1_ENST00000452790.2_Silent_p.K210K	p.K178K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			6	989	+			178					B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Silent	SNP	ENST00000409600.1	37	c.534A>G	CCDS56156.1																																																																																				0.398	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		22	61	0	0	0	1	0	22	61					G	201681960	A	G	201681960	2	3	137	1	0	0	0	0	0	0	0	1	1578	69	3	4		4	BZW1	2	201681960	Silent	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08	4679598	201681960	41517413	7	2430										
BARD1	580	broad.mit.edu	37	chr2	215593563	215593563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gctgatcagaatcgggtctcGcatggtatgcgactgtattg	13	8	2	2	rs587782662		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:215593563G>A	ENST00000260947.4	-	11	2305	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	BARD1_ENST00000449967.2_3'UTR|BARD1_ENST00000432456.1_Missense_Mutation_p.A95V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	724	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCGGGTCTCGCATGGTATGC	0.498									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2170-2172)gCg>gTg		BRCA1 associated RING domain 1							154	119	131					2																	215593563		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215593563G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.2171C>T	2.37:g.215593563G>A	ENSP00000260947:p.Ala724Val					BARD1_ENST00000432456.1_Missense_Mutation_p.A95V|BARD1_ENST00000449967.2_3'UTR	p.A724V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	11	2305	-		Renal(323;0.0243)	724			BRCT 2.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.2171C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082668	0.76528	.	.	ENSG00000138376	ENST00000260947;ENST00000432456	T;T	0.77750	-1.12;1.76	5.81	5.81	0.92471	BRCT (3);	0.000000	0.85682	D	0.000000	D	0.86752	0.6008	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86783	0.1980	10	0.72032	D	0.01	-17.2398	20.0912	0.97820	0.0:0.0:1.0:0.0	.	724	Q99728	BARD1_HUMAN	V	724;95	ENSP00000260947:A724V;ENSP00000405020:A95V	ENSP00000260947:A724V	A	-	2	0	BARD1	215301808	1.000000	0.71417	0.871000	0.34182	0.076000	0.17211	9.434000	0.97515	2.746000	0.94184	0.591000	0.81541	GCG		0.498	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		26	32	0	0	0	1	0	26	32					A	215593563	G	A	215593563	3	1	137	1	0	0	0	0	1	0	0	0	1312	1087	38	1	166	1	BARD1	2	215593563	Missense_Mutation	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08	13911603	215593563	27605810	8	2431										
PRICKLE2	166336	broad.mit.edu	37	chr3	64085509	64085509	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gcccatgttgctcagcttctCagacacattcattccagagt	7	13	3	2			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr3:64085509C>T	ENST00000295902.6	-	8	2338	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E641K|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	585					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCAGCTTCTCAGACACATTC	0.562																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1753-1755)Gag>Aag		prickle homolog 2 (Drosophila)							142	145	144					3																	64085509		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085509C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1753G>A	3.37:g.64085509C>T	ENSP00000295902:p.Glu585Lys					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E641K	p.E585K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2338	-		Lung NSC(201;0.136)	585					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1753G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896043	0.72639	.	.	ENSG00000163637	ENST00000295902	T	0.68624	-0.34	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.64832	0.2634	L	0.58810	1.83	0.80722	D	1	P	0.41393	0.748	B	0.35182	0.197	T	0.70992	-0.4721	10	0.87932	D	0	-33.561	19.6573	0.95847	0.0:1.0:0.0:0.0	.	585	Q7Z3G6	PRIC2_HUMAN	K	585	ENSP00000295902:E585K	ENSP00000295902:E585K	E	-	1	0	PRICKLE2	64060549	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	7.613000	0.82986	2.655000	0.90218	0.591000	0.81541	GAG		0.562	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	160	0	0	0	1	0	4	160					T	64085509	C	T	64085509	3	4	137	1	0	0	0	0	1	0	0	0	12487	835	29	3	785	3	PRICKLE2	3	64085509	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		64085509	133936921	9	2432										
ALPK1	80216	broad.mit.edu	37	chr4	113362081	113362081	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	tttctcttttaggttgggtaAccggtaatggaaaaggactc	11	6	1	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr4:113362081A>T	ENST00000458497.1	+	15	3826	c.3547A>T	c.(3547-3549)Acc>Tcc	p.T1183S	ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1183	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGTTGGGTAACCGGTAATGG	0.378																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3547-3549)Acc>Tcc		alpha-kinase 1							89	90	90					4																	113362081		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362081A>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3547A>T	4.37:g.113362081A>T	ENSP00000398048:p.Thr1183Ser					ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S	p.T1183S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	15	3826	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1183			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3547A>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742648	0.89573	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.13538	2.58;2.58;2.58	5.84	5.84	0.93424	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.46741	1.465	0.46981	D	0.999278	D;D;D	0.62365	0.969;0.991;0.989	P;D;D	0.66351	0.755;0.943;0.922	T	0.00989	-1.1489	10	0.66056	D	0.02	-12.2627	16.2159	0.82217	1.0:0.0:0.0:0.0	.	1105;1105;1183	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	S	1183;1183;1105	ENSP00000398048:T1183S;ENSP00000177648:T1183S;ENSP00000426044:T1105S	ENSP00000177648:T1183S	T	+	1	0	ALPK1	113581530	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	8.219000	0.89770	2.243000	0.73865	0.533000	0.62120	ACC		0.378	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		27	65	0	0	0	1	0	27	65					T	113362081	A	T	113362081	3	4	137	1	0	0	0	0	1	0	0	0	544	43	2	5	3597	5	ALPK1	4	113362081	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08		113362081	77792195	10	2433										
C5orf28	64417	broad.mit.edu	37	chr5	43446327	43446327	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	taagactgccgtgtacctcaGacatcaatacgaactccatg	7	12	2	2			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr5:43446327G>C	ENST00000500337.2	-	5	976	c.645C>G	c.(643-645)gtC>gtG	p.V215V	C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000397080.3_Silent_p.V215V|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000510130.1_Silent_p.V113V			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	215						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GTGTACCTCAGACATCAATAC	0.333																																						ENST00000500337.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(643-645)gtC>gtG		chromosome 5 open reading frame 28							93	90	91					5																	43446327		2202	4300	6502	SO:0001819	synonymous_variant	64417					integral to membrane		g.chr5:43446327G>C	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.645C>G	5.37:g.43446327G>C						C5orf28_ENST00000397080.3_Silent_p.V215V|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000510130.1_Silent_p.V113V	p.V215V			Q0VDI3	CE028_HUMAN			5	976	-	Lung NSC(6;2.07e-05)		215					B2RDA6|Q9H6Z2	Silent	SNP	ENST00000500337.2	37	c.645C>G	CCDS3945.1																																																																																				0.333	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		30	58	0	0	0	1	0	30	58					C	43446327	G	C	43446327	2	2	137	1	0	0	0	0	0	0	0	1	2289	929	33	5		5	C5orf28	5	43446327	Silent	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08		43446327	137468933	11	2434										
DSE	29940	broad.mit.edu	37	chr6	116720670	116720670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gtccagccccttggaataccTccctccctgggatcccaagg	9	17	0	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:116720670T>C	ENST00000331677.3	+	3	701	c.257T>C	c.(256-258)cTc>cCc	p.L86P	DSE_ENST00000359564.2_Missense_Mutation_p.L86P|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	86					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGGAATACCTCCCTCCCTGG	0.582																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(256-258)cTc>cCc		dermatan sulfate epimerase							41	40	41					6																	116720670		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720670T>C	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.257T>C	6.37:g.116720670T>C	ENSP00000332151:p.Leu86Pro					DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.L86P|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P	p.L86P			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	701	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	86					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.257T>C	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424455	0.83667	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.44482	1.79;0.92;0.92;0.92;0.92	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58918	-0.7551	10	0.56958	D	0.05	-19.0569	15.6958	0.77494	0.0:0.0:0.0:1.0	.	105;86	B7Z765;Q9UL01	.;DSE_HUMAN	P	86;86;105;86;86	ENSP00000397597:L86P;ENSP00000404049:L86P;ENSP00000441152:L105P;ENSP00000332151:L86P;ENSP00000352567:L86P	ENSP00000332151:L86P	L	+	2	0	DSE	116827363	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.820000	0.86633	2.288000	0.76882	0.528000	0.53228	CTC		0.582	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		3	30	0	0	0	1	0	3	30					C	116720670	T	C	116720670	3	2	137	1	0	0	0	0	1	0	0	0	4774	1551	54	4	259	4	DSE	6	116720670	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		116720670	54394397	12	2435										
LPA	4018	broad.mit.edu	37	chr6	161007643	161007643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	ctcagcatctggattcctgcAgtagttcctggtcaggccac	10	13	3	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:161007643A>T	ENST00000316300.5	-	25	4011	c.3967T>A	c.(3967-3969)Tgc>Agc	p.C1323S	LPA_ENST00000447678.1_Missense_Mutation_p.C1323S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3831	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATTCCTGCAGTAGTTCCTG	0.483																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3967-3969)Tgc>Agc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						93	93	93					6																	161007643		2189	4297	6486	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007643A>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3967T>A	6.37:g.161007643A>T	ENSP00000321334:p.Cys1323Ser					LPA_ENST00000316300.5_Missense_Mutation_p.C1323S	p.C1323S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4087	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3831			Kringle 12.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3967T>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	14.12	2.441638	0.43326	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.98164	-4.76;-4.76	2.55	2.55	0.30701	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.99293	0.9753	H	0.99838	4.83	0.45791	D	0.998674	P	0.46142	0.873	P	0.61874	0.895	D	0.98883	1.0770	9	0.72032	D	0.01	.	8.5612	0.33511	1.0:0.0:0.0:0.0	.	3831	P08519	APOA_HUMAN	S	1323	ENSP00000321334:C1323S;ENSP00000395608:C1323S	ENSP00000321334:C1323S	C	-	1	0	LPA	160927633	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	6.608000	0.74168	1.158000	0.42547	0.352000	0.21897	TGC		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		30	24	0	0	0	1	0	30	24					T	161007643	A	T	161007643	3	4	137	1	0	0	0	0	1	0	0	0	8903	188	7	5	2215	5	LPA	6	161007643	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08	44286973	161007643	10107424	13	2436										
PKD1L1	168507	broad.mit.edu	37	chr7	47898432	47898432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	ccccgagaactggccttgagCaaggagtgcccgggtgtact	14	12	0	2			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:47898432C>A	ENST00000289672.2	-	27	4251	c.4201G>T	c.(4201-4203)Gct>Tct	p.A1401S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1401	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGCCTTGAGCAAGGAGTGCC	0.488																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4201-4203)Gct>Tct		polycystic kidney disease 1 like 1							72	69	70					7																	47898432		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898432C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4201G>T	7.37:g.47898432C>A	ENSP00000289672:p.Ala1401Ser						p.A1401S	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			27	4251	-			1401			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4201G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827116	0.16749	.	.	ENSG00000158683	ENST00000289672	T	0.19532	2.14	4.52	1.13	0.20643	Egg jelly receptor, REJ-like (1);	1.847090	0.02601	N	0.101032	T	0.21468	0.0517	L	0.57536	1.79	0.09310	N	1	P	0.35383	0.498	B	0.33454	0.164	T	0.20042	-1.0287	10	0.22706	T	0.39	-3.248	6.0724	0.19897	0.0:0.5914:0.0:0.4086	.	1401	Q8TDX9	PK1L1_HUMAN	S	1401	ENSP00000289672:A1401S	ENSP00000289672:A1401S	A	-	1	0	PKD1L1	47864957	0.000000	0.05858	0.011000	0.14972	0.199000	0.23934	-1.150000	0.03178	0.290000	0.22444	0.543000	0.68304	GCT		0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		16	38	1	0	1.62849e-17	1	1.71652e-17	16	38					A	47898432	C	A	47898432	3	1	137	1	0	0	0	0	1	0	0	0	11964	710	25	5	4472	5	PKD1L1	7	47898432	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		47898432	111240231	14	2437										
SLC26A3	1811	broad.mit.edu	37	chr7	107414431	107414431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gaaaagtcaagaatgaggctGtggaggctgattttggggac	16	4	1	3			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:107414431G>A	ENST00000340010.5	-	17	2125	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	647	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATGAGGCTGTGGAGGCTGA	0.433																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1939-1941)caC>caT		solute carrier family 26 (anion exchanger), member 3							201	178	186					7																	107414431		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107414431G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1941C>T	7.37:g.107414431G>A						SLC26A3_ENST00000422236.2_Intron	p.H647H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			17	2125	-			647			STAS.			Silent	SNP	ENST00000340010.5	37	c.1941C>T	CCDS5748.1																																																																																				0.433	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		37	44	0	0	0	1	0	37	44					A	107414431	G	A	107414431	2	1	137	1	0	0	0	0	0	0	0	1	14518	1368	48	3		3	SLC26A3	7	107414431	Silent	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08	59515999	107414431	51724232	15	2438										
RNF19A	25897	broad.mit.edu	37	chr8	101281047	101281047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	acacaggaatgccaataatcAttgcaggaatagcaatgcca	8	9	1	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr8:101281047A>G	ENST00000519449.1	-	6	1473	c.1157T>C	c.(1156-1158)aTg>aCg	p.M386T	RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	386					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCAATAATCATTGCAGGAAT	0.403																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1156-1158)aTg>aCg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							108	97	101					8																	101281047		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101281047A>G	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1157T>C	8.37:g.101281047A>G	ENSP00000428968:p.Met386Thr					RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR	p.M386T	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		6	1473	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		386					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1157T>C	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161748	0.78226	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84516	-1.86;-1.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	L	0.60845	1.875	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	D	0.90751	0.4657	10	0.59425	D	0.04	.	15.0768	0.72082	1.0:0.0:0.0:0.0	.	386	Q9NV58	RN19A_HUMAN	T	386	ENSP00000428968:M386T;ENSP00000342667:M386T	ENSP00000342667:M386T	M	-	2	0	RNF19A	101350223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.048000	0.60808	0.482000	0.46254	ATG		0.403	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		42	79	0	0	0	1	0	42	79					G	101281047	A	G	101281047	3	3	137	1	0	0	0	0	1	0	0	0	13470	217	8	4	1383	4	RNF19A	8	101281047	Missense_Mutation	SNP	A	TCGA-W2-A7HC-01A-11D-A35I-08		101281047	45082975	16	2439										
TLN1	7094	broad.mit.edu	37	chr9	35700005	35700005	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	ccagcagttccaggtagccaTtggcacactcccggccatag	10	15	0	0	rs368513332		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr9:35700005T>C	ENST00000314888.9	-	50	7087	c.6734A>G	c.(6733-6735)aAt>aGt	p.N2245S	TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2245					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGTAGCCATTGGCACACTC	0.567																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6733-6735)aAt>aGt		talin 1		T	SER/ASN	0,4406		0,0,2203	86	81	83		6734	5.4	1	9		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	2245/2542	35700005	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700005T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6734A>G	9.37:g.35700005T>C	ENSP00000316029:p.Asn2245Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S	p.N2245S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		50	7087	-	all_epithelial(49;0.167)		2245					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6734A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	6.944	0.544053	0.13312	0.0	1.16E-4	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68181	-0.31;-0.3	5.37	5.37	0.77165	.	0.378995	0.29676	N	0.011490	T	0.38746	0.1052	N	0.08118	0	0.24732	N	0.993083	B	0.06786	0.001	B	0.04013	0.001	T	0.24083	-1.0170	10	0.09590	T	0.72	-16.2867	5.7532	0.18158	0.1501:0.0798:0.0:0.7701	.	2245	Q9Y490	TLN1_HUMAN	S	2245;2133	ENSP00000316029:N2245S;ENSP00000442981:N2133S	ENSP00000316029:N2245S	N	-	2	0	TLN1	35690005	0.759000	0.28416	1.000000	0.80357	0.998000	0.95712	1.144000	0.31565	2.035000	0.60131	0.533000	0.62120	AAT		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		24	37	0	0	0	1	0	24	37					C	35700005	T	C	35700005	3	2	137	1	0	0	0	0	1	0	0	0	15944	1493	52	4	923	4	TLN1	9	35700005	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		35700005	105513426	17	2440										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		33	50	0	0	0	1	0	33	50					C	533874	T	C	533874	3	2	137	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		533874	134472642	18	2441										
ATG2B	55102	broad.mit.edu	37	chr14	96798922	96798922	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	aggtccatgtttggggggtcCccaaggggtggaagagaaga	18	6	0	2	rs201390239	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr14:96798922C>T	ENST00000359933.4	-	9	2171	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	426					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGGGGGGTCCCCAAGGGGTG	0.398													C|||	3	0.000599042	0	0	5008	,	,		16551	0		0	False		,,,				2504	0.0031					ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1276-1278)ggG>ggA		autophagy related 2B							108	107	107					14																	96798922		1832	4075	5907	SO:0001819	synonymous_variant	55102							g.chr14:96798922C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1278G>A	14.37:g.96798922C>T							p.G426G	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	9	2171	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	426					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.1278G>A	CCDS9944.2																																																																																				0.398	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		29	62	0	0	0	1	0	29	62					T	96798922	C	T	96798922	2	4	137	1	0	0	0	0	0	0	0	1	1094	610	22	3		3	ATG2B	14	96798922	Silent	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		96798922	10550618	19	2442										
GTF3C1	2975	broad.mit.edu	37	chr16	27523078	27523078	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	aacaagacttactgaggtcgTaggtctgtgtgagcatatcc	11	8	1	3			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr16:27523078T>C	ENST00000356183.4	-	7	1133	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	373					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTGAGGTCGTAGGTCTGTGT	0.507																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1117-1119)tAc>tGc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							182	138	153					16																	27523078		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27523078T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1118A>G	16.37:g.27523078T>C	ENSP00000348510:p.Tyr373Cys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C	p.Y373C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			7	1133	-			373					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1118A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393673	0.62066	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.54071	0.59	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	L	0.34521	1.04	0.46725	D	0.999171	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66164	-0.5992	10	0.62326	D	0.03	-5.8257	15.5262	0.75910	0.0:0.0:0.0:1.0	.	373;373	Q12789;Q12789-3	TF3C1_HUMAN;.	C	373;371	ENSP00000348510:Y373C	ENSP00000348510:Y373C	Y	-	2	0	GTF3C1	27430579	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	4.313000	0.59160	2.146000	0.66826	0.528000	0.53228	TAC		0.507	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		26	64	0	0	0	1	0	26	64					C	27523078	T	C	27523078	3	2	137	1	0	0	0	0	1	0	0	0	6872	1638	57	4	5335	4	GTF3C1	16	27523078	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		27523078	62831675	20	2443										
KRTAP4-11	653240	broad.mit.edu	37	chr17	39273997	39273998	+	Frame_Shift_Del	DEL	CA	CA	-													0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	ggctcagcagcaagaggaggCacagcacaaggggcgggggc					rs150942763|rs370844718	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:39273997_39273998delCA	ENST00000391413.2	-	1	608_609	c.570_571delTG	c.(568-573)tgtgccfs	p.A191fs		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	191						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAAGAGGAGGCACAGCACAAGG	0.599																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(568-573)tgccfs		keratin associated protein 4-11																																				SO:0001589	frameshift_variant	653240					keratin filament		g.chr17:39273997_39273998delCA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.570_571delTG	17.37:g.39273999_39274000delCA	ENSP00000375232:p.Ala191fs						p.CA190fs	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	608_609	-		Breast(137;0.000496)	190					A0AUY2	Frame_Shift_Del	DEL	ENST00000391413.2	37	c.570_571delTG	CCDS45675.1																																																																																				0.599	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			2	4						2	4	---	---	---	---	-	39273998	CA	-	39273997	7	5	137	1	0	1	0	1	0	0	0	0	8549	710	25	0	20	0	KRTAP4-11	17	39273997	Frame_Shift_Del	DEL	CA	TCGA-W2-A7HC-01A-11D-A35I-08		39273997	41921213	21	2444										
SLC25A39	51629	broad.mit.edu	37	chr17	42399848	42399848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	cacagcgggcaccatttgggCacaggtacagaggctccagg	14	12	0	1			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:42399848C>A	ENST00000377095.5	-	5	382	c.263G>T	c.(262-264)tGc>tTc	p.C88F	SLC25A39_ENST00000225308.8_Missense_Mutation_p.C80F|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F|SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	88					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCATTTGGGCACAGGTACAG	0.587																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(238-240)tGc>tTc		solute carrier family 25, member 39							107	86	93					17																	42399848		2203	4300	6503	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42399848C>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.263G>T	17.37:g.42399848C>A	ENSP00000366299:p.Cys88Phe					SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F|SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F|SLC25A39_ENST00000377095.5_Missense_Mutation_p.C88F|SLC25A39_ENST00000586016.1_Intron	p.C80F	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	5	413	-		Prostate(33;0.0233)	88					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.239G>T	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717153	0.89205	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80994	-1.44;-1.3;-1.41	5.38	5.38	0.77491	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	L	0.50333	1.59	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.933;0.999;0.997	D;D;D;D;D	0.81914	0.995;0.989;0.921;0.993;0.973	D	0.87482	0.2421	10	0.59425	D	0.04	-26.9335	18.9412	0.92605	0.0:1.0:0.0:0.0	.	73;80;65;88;80	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	F	80;88;65	ENSP00000225308:C80F;ENSP00000366299:C88F;ENSP00000444540:C65F	ENSP00000225308:C80F	C	-	2	0	SLC25A39	39755374	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.431000	0.59915	2.793000	0.96121	0.655000	0.94253	TGC		0.587	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		8	37	1	0	0.00307968	1	0.00316072	8	37					A	42399848	C	A	42399848	3	1	137	1	0	0	0	0	1	0	0	0	14503	710	25	5	848	5	SLC25A39	17	42399848	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	3125851	42399848	38795362	22	2445										
FASN	2194	broad.mit.edu	37	chr17	80050662	80050662	+	Frame_Shift_Del	DEL	G	G	-													0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	cgagcggatgagctgctcctGgatatcccctgaggggaagg							TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:80050662delG	ENST00000306749.2	-	7	1023	c.805delC	c.(805-807)cagfs	p.Q269fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	269	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCTGCTCCTGGATATCCCCT	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(805-807)agfs		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						27	28	28					17																	80050662		2181	4289	6470	SO:0001589	frameshift_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80050662delG	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.805delC	17.37:g.80050662delG	ENSP00000304592:p.Gln269fs						p.Q269fs	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		7	1023	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		269			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000306749.2	37	c.805delC	CCDS11801.1																																																																																				0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		2	4						2	4	---	---	---	---	-	80050662	G	-	80050662	7	5	137	1	0	1	0	1	0	0	0	0	5683	1357	47	0	6878	0	FASN	17	80050662	Frame_Shift_Del	DEL	G	TCGA-W2-A7HC-01A-11D-A35I-08	37650814	80050662	1144548	23	2446										
OR7C2	26658	broad.mit.edu	37	chr19	15052535	15052535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	gtttcacatccacgactgtcCcaaagatgctggtgaatatc	8	11	1	2			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:15052535C>T	ENST00000248072.3	+	1	235	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACGACTGTCCCAAAGATGCT	0.458																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(235-237)Cca>Tca		olfactory receptor, family 7, subfamily C, member 2							73	64	67					19																	15052535		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052535C>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.235C>T	19.37:g.15052535C>T	ENSP00000248072:p.Pro79Ser						p.P79S	NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN			1	235	+	Ovarian(108;0.203)		79					O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.235C>T	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	c	12.86	2.064166	0.36373	.	.	ENSG00000127529	ENST00000248072	T	0.01854	4.6	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	U	0.000711	T	0.20981	0.0505	H	0.97758	4.07	0.33901	D	0.638471	D	0.89917	1.0	D	0.71414	0.973	T	0.55010	-0.8207	10	0.87932	D	0	.	14.3821	0.66919	0.0:1.0:0.0:0.0	.	79	O60412	OR7C2_HUMAN	S	79	ENSP00000248072:P79S	ENSP00000248072:P79S	P	+	1	0	OR7C2	14913535	1.000000	0.71417	0.793000	0.32043	0.144000	0.21451	5.381000	0.66208	2.336000	0.79503	0.514000	0.50259	CCA		0.458	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			6	69	0	0	0	1	0	6	69					T	15052535	C	T	15052535	3	4	137	1	0	0	0	0	1	0	0	0	11218	623	22	3	237	3	OR7C2	19	15052535	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		15052535	44076448	24	2447										
PSG11	5680	broad.mit.edu	37	chr19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	tgtttctcgtccactgtatgCcggtccatatataattattt	6	9	1	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247	230	236					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000403486.1_Intron	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		6	322	0	0	0	1	0	6	322					T	43528993	C	T	43528993	3	4	137	1	0	0	0	0	1	0	0	0	12654	739	26	3	743	3	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08	28476458	43528993	15599990	25	2448										
MATN4	8785	broad.mit.edu	37	chr20	43933245	43933245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	cctcgcggcgagagaacgcgCggagagggaagacgctctgc	17	12	1	3			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr20:43933245C>T	ENST00000372754.1	-	2	274	c.266G>A	c.(265-267)cGc>cAc	p.R89H	MATN4_ENST00000372756.1_Missense_Mutation_p.R89H|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.R89H|MATN4_ENST00000360607.6_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H			O95460	MATN4_HUMAN	matrilin 4	89	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGAACGCGCGGAGAGGGAA	0.642																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(265-267)cGc>cAc		matrilin 4							34	31	32					20																	43933245		2202	4300	6502	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933245C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.266G>A	20.37:g.43933245C>T	ENSP00000361840:p.Arg89His					MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.R89H|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000360607.5_Missense_Mutation_p.R89H	p.R89H			O95460	MATN4_HUMAN			4	510	-		Myeloproliferative disorder(115;0.0122)	89			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.851115	0.32699	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.5	4.5	0.54988	.	0.532223	0.15638	N	0.252035	T	0.80308	0.4599	L	0.43923	1.385	0.20563	N	0.999881	P;P;P	0.48834	0.478;0.916;0.864	B;P;B	0.49597	0.111;0.616;0.397	T	0.72178	-0.4369	10	0.56958	D	0.05	.	6.1762	0.20444	0.0:0.7935:0.0:0.2065	.	89;89;89	A6NNA4;O95460-4;O95460-2	.;.;.	H	89	ENSP00000361840:R89H;ENSP00000361842:R89H;ENSP00000243983:R89H;ENSP00000353819:R89H;ENSP00000343164:R89H;ENSP00000440328:R89H	ENSP00000255132:R89H	R	-	2	0	MATN4	43366659	0.366000	0.25014	0.024000	0.17045	0.034000	0.12701	4.015000	0.57152	2.335000	0.79485	0.462000	0.41574	CGC		0.642	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			5	9	0	0	0	1	0	5	9					T	43933245	C	T	43933245	3	4	137	1	0	0	0	0	1	0	0	0	9336	768	27	1	1511	1	MATN4	20	43933245	Missense_Mutation	SNP	C	TCGA-W2-A7HC-01A-11D-A35I-08		43933245	19092275	26	2449										
PLXNB2	23654	broad.mit.edu	37	chr22	50718132	50718132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	acttggccttcttctgtaccGcatccaccgggcccttttcc	7	17	2	0			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr22:50718132G>A	ENST00000449103.1	-	27	4456	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V			O15031	PLXB2_HUMAN	plexin B2	1439					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTGTACCGCATCCACCGG	0.617																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4315-4317)gCg>gTg		plexin B2							151	171	164					22																	50718132		1996	4140	6136	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718132G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4316C>T	22.37:g.50718132G>A	ENSP00000409171:p.Ala1439Val					PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V	p.A1439V			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4456	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1439					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4316C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331777	0.60853	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.15139	2.45;2.45	4.17	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.35098	0.0920	L	0.55103	1.725	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.04509	-1.0946	10	0.36615	T	0.2	.	17.0055	0.86392	0.0:0.0:1.0:0.0	.	1439	O15031	PLXB2_HUMAN	V	1439;1439;71	ENSP00000409171:A1439V;ENSP00000352288:A1439V	ENSP00000352288:A1439V	A	-	2	0	PLXNB2	49060259	0.999000	0.42202	0.952000	0.39060	0.168000	0.22595	3.644000	0.54381	2.306000	0.77630	0.462000	0.41574	GCG		0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	110	0	0	0	1	0	4	110					A	50718132	G	A	50718132	3	1	137	1	0	0	0	0	1	0	0	0	12124	1087	38	1	1244	1	PLXNB2	22	50718132	Missense_Mutation	SNP	G	TCGA-W2-A7HC-01A-11D-A35I-08		50718132	586434	27	2450										
NXT2	55916	broad.mit.edu	37	chrX	108784843	108784843	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	2	1	1.29478458049887	9.06349206349206	0.697191697191697	1	1	0	tatgttagattgccaaccagTtcatggtaagatcatgatct	8	7	3	3			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chrX:108784843T>C	ENST00000372106.1	+	3	373	c.242T>C	c.(241-243)gTt>gCt	p.V81A	NXT2_ENST00000372107.1_Missense_Mutation_p.V53A|NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000218004.1_Missense_Mutation_p.V136A	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	81	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGCCAACCAGTTCATGGTAAG	0.393																																						ENST00000218004.1																			0				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						c.(406-408)gTt>gCt		nuclear transport factor 2-like export factor 2							117	102	107					X																	108784843		2203	4300	6503	SO:0001583	missense	55916				mRNA transport|protein transport	cytoplasm|nucleus		g.chrX:108784843T>C	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.242T>C	X.37:g.108784843T>C	ENSP00000361178:p.Val81Ala					NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000372106.1_Missense_Mutation_p.V81A|NXT2_ENST00000372107.1_Missense_Mutation_p.V53A	p.V136A	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN			4	509	+			81			NTF2.		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	c.407T>C	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559403	0.86335	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.33	5.33	0.75918	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.984;0.995	D	0.83885	0.0281	9	0.62326	D	0.03	.	14.8499	0.70289	0.0:0.0:0.0:1.0	.	81;136	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	A	136;53;81;53	.	ENSP00000218004:V136A	V	+	2	0	NXT2	108671499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.044000	0.60594	0.486000	0.48141	GTT		0.393	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		34	13	0	0	0	1	0	34	13					C	108784843	T	C	108784843	3	2	137	1	0	0	0	0	1	0	0	0	10795	1725	60	4	421	4	NXT2	23	108784843	Missense_Mutation	SNP	T	TCGA-W2-A7HC-01A-11D-A35I-08		108784843	46485717	28	2451										
FAM119A	151194	broad.mit.edu	37	chr2	208486586	208486586	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	cagcacccagctccacggcaGagcggcccctgagctccaca	10	19	0	2	rs374199210		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr2:208486586G>C	ENST00000411432.1	-	3	419	c.203C>G	c.(202-204)tCt>tGt	p.S68C	METTL21A_ENST00000432416.1_Missense_Mutation_p.S68C|METTL21A_ENST00000425132.1_Missense_Mutation_p.S68C|METTL21A_ENST00000426075.1_Missense_Mutation_p.S68C|METTL21A_ENST00000458426.1_Missense_Mutation_p.S68C|METTL21A_ENST00000272839.3_Missense_Mutation_p.S68C|METTL21A_ENST00000448007.2_Missense_Mutation_p.S68C|METTL21A_ENST00000406927.2_Missense_Mutation_p.S68C|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.S68C	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	68					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTCCACGGCAGAGCGGCCCCT	0.557																																						ENST00000411432.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(202-204)tCt>tGt		methyltransferase like 21A							81	78	79					2																	208486586		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208486586G>C	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.203C>G	2.37:g.208486586G>C	ENSP00000415115:p.Ser68Cys					METTL21A_ENST00000406927.2_Missense_Mutation_p.S68C|METTL21A_ENST00000432416.1_Missense_Mutation_p.S68C|METTL21A_ENST00000426075.1_Missense_Mutation_p.S68C|METTL21A_ENST00000272839.3_Missense_Mutation_p.S68C|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.S68C|METTL21A_ENST00000458426.1_Missense_Mutation_p.S68C|METTL21A_ENST00000442521.1_Missense_Mutation_p.S68C|METTL21A_ENST00000425132.1_Missense_Mutation_p.S68C	p.S68C	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN			3	419	-			68					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.203C>G	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253294	0.59212	.	.	ENSG00000144401	ENST00000432416;ENST00000458426;ENST00000425132;ENST00000461419;ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;2.21;2.21;2.21;2.21;2.21;2.21	4.08	3.19	0.36642	.	0.508793	0.23086	N	0.052083	T	0.44286	0.1286	L	0.58101	1.795	0.36215	D	0.851623	P;P	0.45126	0.851;0.819	P;B	0.47626	0.552;0.325	T	0.54814	-0.8237	10	0.54805	T	0.06	-3.564	8.8291	0.35074	0.0843:0.1527:0.7631:0.0	.	68;68	Q8WXB1;Q8WXB1-2	MT21A_HUMAN;.	C	68	ENSP00000416570:S68C;ENSP00000389684:S68C;ENSP00000400730:S68C;ENSP00000415115:S68C;ENSP00000407622:S68C;ENSP00000272839:S68C;ENSP00000385481:S68C;ENSP00000403317:S68C;ENSP00000392062:S68C	ENSP00000272839:S68C	S	-	2	0	METTL21A	208194831	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	1.108000	0.31123	1.026000	0.39733	0.455000	0.32223	TCT		0.557	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		31	35	0	0	0	1	0	31	35					C	208486586	G	C	208486586	3	2	138	1	0	0	0	0	1	0	0	0	5413	942	33	5	461	5	FAM119A	2	208486586	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		208486586	34712787	1	2452										
PHC3	80012	broad.mit.edu	37	chr3	169847313	169847313	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	tctgctgatgttttattagaGaatgaggctgaattggagaa	12	3	1	5			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr3:169847313G>T	ENST00000494943.1	-	8	979	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	PHC3_ENST00000495893.2_Missense_Mutation_p.S316Y|PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	304					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTTATTAGAGAATGAGGCTG	0.343																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(910-912)tCt>tAt		polyhomeotic homolog 3 (Drosophila)							140	135	137					3																	169847313		1863	4098	5961	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169847313G>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.911C>A	3.37:g.169847313G>T	ENSP00000420271:p.Ser304Tyr					PHC3_ENST00000495893.1_Missense_Mutation_p.S316Y|PHC3_ENST00000467570.1_Missense_Mutation_p.S263Y	p.S304Y			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	979	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		304					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.911C>A		.	.	.	.	.	.	.	.	.	.	G	16.61	3.170125	0.57584	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931	T;T	0.34472	1.39;1.36	5.41	5.41	0.78517	.	0.077463	0.56097	D	0.000035	T	0.43897	0.1268	L	0.50333	1.59	0.80722	D	1	D;P;P;P	0.60160	0.987;0.873;0.94;0.655	P;P;P;B	0.51229	0.663;0.528;0.564;0.4	T	0.13818	-1.0495	10	0.16420	T	0.52	-5.6452	18.8093	0.92052	0.0:0.0:1.0:0.0	.	263;263;304;316	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	Y	304;316;263;142	ENSP00000420271:S304Y;ENSP00000420294:S316Y	ENSP00000419089:S263Y	S	-	2	0	PHC3	171330007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.549000	0.85964	0.561000	0.74099	TCT		0.343	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		12	34	1	0	3.27435e-08	1	3.39129e-08	12	34					T	169847313	G	T	169847313	3	4	138	1	0	0	0	0	1	0	0	0	11818	942	33	5	2072	5	PHC3	3	169847313	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		169847313	28175117	2	2453										
SCGB3A2	117156	broad.mit.edu	37	chr5	147261032	147261032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	ctgccttcctcatcaacaaaGtgccccttcctgttgacaag	6	15	2	1			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:147261032G>A	ENST00000296694.4	+	2	172	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_5'UTR|SCGB3A2_ENST00000514688.1_3'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	27						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAACAAAGTGCCCCTTCC	0.473																																						ENST00000296694.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(79-81)Gtg>Atg		secretoglobin, family 3A, member 2							189	186	187					5																	147261032		2203	4300	6503	SO:0001583	missense	117156					extracellular region	binding	g.chr5:147261032G>A	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"Secretoglobins"	18391	protein-coding gene	gene with protein product	"uteroglobin-related protein 1", "pneumo secretory protein 1", "uteroglobin related protein 1"	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.79G>A	5.37:g.147261032G>A	ENSP00000296694:p.Val27Met					SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_5'UTR|C5orf46_ENST00000510432.1_Intron	p.V27M	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	172	+			27						Missense_Mutation	SNP	ENST00000296694.4	37	c.79G>A	CCDS4287.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338624	0.24253	.	.	ENSG00000164265	ENST00000296694	.	.	.	5.26	-10.5	0.00291	.	2.002980	0.02635	N	0.104764	T	0.35595	0.0937	.	.	.	0.09310	N	1	B	0.29085	0.232	B	0.27608	0.081	T	0.34179	-0.9839	8	0.54805	T	0.06	1.0E-4	14.6582	0.68850	0.0:0.1374:0.7295:0.1331	.	27	Q96PL1	SG3A2_HUMAN	M	27	.	ENSP00000296694:V27M	V	+	1	0	SCGB3A2	147241225	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.061000	0.03472	-1.907000	0.01087	-0.410000	0.06199	GTG		0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023		7	85	0	0	0	1	0	7	85					A	147261032	G	A	147261032	3	1	138	1	0	0	0	0	1	0	0	0	13901	1029	36	3	85	3	SCGB3A2	5	147261032	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		147261032	33654228	3	2454										
RUFY1	80230	broad.mit.edu	37	chr5	178994549	178994549	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	ctgaaagtgcttatagacaaTaaacatctcttaaggtattt	6	6	1	2			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr5:178994549T>C	ENST00000319449.4	+	4	702	c.690T>C	c.(688-690)aaT>aaC	p.N230N	RUFY1_ENST00000393438.2_Silent_p.N122N|RUFY1_ENST00000437570.2_Silent_p.N122N|RUFY1_ENST00000377001.2_Silent_p.N230N	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	230	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTATAGACAATAAACATCTCT	0.418										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(688-690)aaT>aaC		RUN and FYVE domain containing 1							100	100	100					5																	178994549		2203	4300	6503	SO:0001819	synonymous_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:178994549T>C	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.690T>C	5.37:g.178994549T>C		HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Silent_p.N122N|RUFY1_ENST00000393438.2_Silent_p.N122N|RUFY1_ENST00000319449.4_Silent_p.N230N	p.N230N			Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	690	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	230			RUN.		Q59FF3|Q71S93|Q9H6I3	Silent	SNP	ENST00000319449.4	37	c.690T>C	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	T	5.286	0.238159	0.10023	.	.	ENSG00000176783	ENST00000502984;ENST00000508609	.	.	.	5.43	0.0226	0.14133	.	.	.	.	.	T	0.58395	0.2119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52719	-0.8538	4	.	.	.	-17.6881	10.9952	0.47571	0.0:0.5129:0.0:0.4871	.	.	.	.	T	188;41	.	.	I	+	2	0	RUFY1	178927155	0.955000	0.32602	0.992000	0.48379	0.553000	0.35397	0.030000	0.13688	-0.148000	0.11234	-0.379000	0.06801	ATA		0.418	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		17	21	0	0	0	1	0	17	21					C	178994549	T	C	178994549	2	2	138	1	0	0	0	0	0	0	0	1	13738	1403	49	4		4	RUFY1	5	178994549	Silent	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08	31733517	178994549	1920711	4	2455										
SYNE1	23345	broad.mit.edu	37	chr6	152590365	152590365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	gccagccattcctggacgccGgggctctgcgtggctgttag	15	13	1	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr6:152590365G>A	ENST00000367255.5	-	99	19231	c.18630C>T	c.(18628-18630)ccC>ccT	p.P6210P	SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000448038.1_Silent_p.P6139P|SYNE1_ENST00000341594.5_Silent_p.P5822P|SYNE1_ENST00000265368.4_Silent_p.P6210P|SYNE1_ENST00000423061.1_Silent_p.P6139P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6210					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGACGCCGGGGCTCTGCG	0.547										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18628-18630)ccC>ccT		spectrin repeat containing, nuclear envelope 1							146	117	127					6																	152590365		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152590365G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18630C>T	6.37:g.152590365G>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Silent_p.P5822P|SYNE1_ENST00000356820.4_Silent_p.P734P|SYNE1_ENST00000423061.1_Silent_p.P6139P|SYNE1_ENST00000448038.1_Silent_p.P6139P|SYNE1_ENST00000265368.4_Silent_p.P6210P	p.P6210P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	99	19231	-		Ovarian(120;0.0955)	6210					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.18630C>T	CCDS5236.2																																																																																				0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		29	48	0	0	0	1	0	29	48					A	152590365	G	A	152590365	2	1	138	1	0	0	0	0	0	0	0	1	15442	1103	39	2		2	SYNE1	6	152590365	Silent	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		152590365	18524702	5	2456										
MAP3K4	4216	broad.mit.edu	37	chr6	161529848	161529848	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	gaaaatattcgaaggcatcaAacaccccaatctggttcggt	8	10	2	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr6:161529848A>G	ENST00000392142.4	+	22	4341	c.4193A>G	c.(4192-4194)aAa>aGa	p.K1398R	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAGGCATCAAACACCCCAAT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4192-4194)aAa>aGa		mitogen-activated protein kinase kinase kinase 4							180	174	176					6																	161529848		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161529848A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4193A>G	6.37:g.161529848A>G	ENSP00000375986:p.Lys1398Arg					MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1348R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1394R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1344R	p.K1398R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	22	4341	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1398			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4193A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759849	0.89932	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.51	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.10916	0.065	0.58432	D	0.999998	B;B;P;P	0.46142	0.026;0.004;0.715;0.873	B;B;B;P	0.48654	0.016;0.012;0.243;0.585	T	0.12116	-1.0560	10	0.30854	T	0.27	-10.7567	12.6724	0.56874	1.0:0.0:0.0:0.0	.	1394;334;1348;1398	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	R	1348;1398;1348;1394;1344	ENSP00000355886:K1348R;ENSP00000375986:K1398R;ENSP00000355887:K1394R;ENSP00000297332:K1344R	ENSP00000297332:K1344R	K	+	2	0	MAP3K4	161449838	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.245000	0.95431	1.800000	0.52685	0.528000	0.53228	AAA		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			5	141	0	0	0	1	0	5	141					G	161529848	A	G	161529848	3	3	138	1	0	0	0	0	1	0	0	0	9252	14	1	4	4279	4	MAP3K4	6	161529848	Missense_Mutation	SNP	A	TCGA-W2-A7HD-01A-11D-A35I-08	8939483	161529848	9585219	6	2457										
DPP6	1804	broad.mit.edu	37	chr7	154684108	154684108	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	acagcatctgtaccggtccaTcatcaacttcttcgtggaat	7	12	4	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr7:154684108T>C	ENST00000377770.3	+	26	2657	c.2516T>C	c.(2515-2517)aTc>aCc	p.I839T	DPP6_ENST00000404039.1_Missense_Mutation_p.I775T|DPP6_ENST00000427557.1_Missense_Mutation_p.I732T|DPP6_ENST00000332007.3_Missense_Mutation_p.I777T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	839					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TACCGGTCCATCATCAACTTC	0.512																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(2323-2325)aTc>aCc		dipeptidyl-peptidase 6							124	132	129					7																	154684108		2101	4227	6328	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154684108T>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2516T>C	7.37:g.154684108T>C	ENSP00000367001:p.Ile839Thr					DPP6_ENST00000427557.1_Missense_Mutation_p.I732T|DPP6_ENST00000377770.3_Missense_Mutation_p.I839T|DPP6_ENST00000332007.3_Missense_Mutation_p.I777T	p.I775T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		26	2911	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	839						Missense_Mutation	SNP	ENST00000377770.3	37	c.2324T>C		.	.	.	.	.	.	.	.	.	.	T	12.48	1.950086	0.34377	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.66	4.66	0.58398	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.319873	0.34002	N	0.004354	T	0.66886	0.2835	M	0.74647	2.275	0.41980	D	0.990794	P;P;D;P	0.57257	0.661;0.918;0.979;0.933	B;D;D;D	0.67382	0.41;0.918;0.951;0.951	T	0.72520	-0.4268	10	0.87932	D	0	-9.3896	14.1169	0.65159	0.0:0.0:0.0:1.0	.	732;777;839;775	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	775;839;777;732	ENSP00000385578:I775T;ENSP00000367001:I839T;ENSP00000328226:I777T;ENSP00000397303:I732T	ENSP00000328226:I777T	I	+	2	0	DPP6	154315041	1.000000	0.71417	0.774000	0.31636	0.120000	0.20174	7.157000	0.77461	1.745000	0.51790	0.533000	0.62120	ATC		0.512	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		19	27	0	0	0	1	0	19	27					C	154684108	T	C	154684108	3	2	138	1	0	0	0	0	1	0	0	0	4730	1435	50	4	2734	4	DPP6	7	154684108	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08		154684108	4454555	7	2458										
DMBT1	1755	broad.mit.edu	37	chr10	124402858	124402858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	accaggaaaaggtggacgtcGtcctgggtcccatccagctg	13	12	0	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr10:124402858G>A	ENST00000338354.3	+	53	7292	c.7186G>A	c.(7186-7188)Gtc>Atc	p.V2396I	DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2396					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGACGTCGTCCTGGGTCC	0.647																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7186-7188)Gtc>Atc		deleted in malignant brain tumors 1							62	65	64					10																	124402858		2030	4165	6195	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402858G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7186G>A	10.37:g.124402858G>A	ENSP00000342210:p.Val2396Ile					DMBT1_ENST00000330163.4_Missense_Mutation_p.V1768I|DMBT1_ENST00000359586.6_Missense_Mutation_p.V1116I|DMBT1_ENST00000368955.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1768I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V2386I|DMBT1_ENST00000368909.3_Missense_Mutation_p.V2396I	p.V2396I			Q9UGM3	DMBT1_HUMAN			53	7292	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2396					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7186G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.717351	0.30413	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.23950	1.93;1.91;1.88;1.93;1.91;1.88;1.9	5.39	2.56	0.30785	.	0.247806	0.20150	U	0.098180	T	0.14874	0.0359	L	0.27053	0.805	0.09310	N	1	P;P;B;B;B;B;B	0.37061	0.58;0.58;0.374;0.374;0.374;0.374;0.257	B;B;B;B;B;B;B	0.29942	0.109;0.066;0.066;0.066;0.066;0.066;0.03	T	0.08932	-1.0698	10	0.34782	T	0.22	.	10.54	0.45026	0.2657:0.0:0.7343:0.0	.	1116;2376;1645;2525;1768;2386;2396	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	I	2396;2525;2396;2396;2396;2395;1768;2386;1768;1768;2396;2386;1768;542;1116	ENSP00000342210:V2396I;ENSP00000343175:V2386I;ENSP00000327747:V1768I;ENSP00000357905:V2396I;ENSP00000357951:V2386I;ENSP00000357952:V1768I;ENSP00000352593:V1116I	ENSP00000331522:V1768I	V	+	1	0	DMBT1	124392848	0.102000	0.21896	0.125000	0.21846	0.946000	0.59487	0.380000	0.20602	0.277000	0.22141	0.655000	0.94253	GTC		0.647	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		19	18	0	0	0	1	0	19	18					A	124402858	G	A	124402858	3	1	138	1	0	0	0	0	1	0	0	0	4577	1145	40	1	7396	1	DMBT1	10	124402858	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		124402858	11131889	8	2459										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		31	31	0	0	0	1	0	31	31					C	533874	T	C	533874	3	2	138	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08		533874	134472642	9	2460										
ELP4	26610	broad.mit.edu	37	chr11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	caggctgtggcatgatggccGgaggcaagaagcacctggac	16	10	0	2	rs3026403		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q|ELP4_ENST00000395934.2_3'UTR|Z83307.3_ENST00000606377.1_lincRNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CATGATGGCCGGAGGCAAGAA	0.498																																						ENST00000350638.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(1249-1251)Gga>Aga		elongator acetyltransferase complex subunit 4							59	68	65					11																	31805046		1941	4139	6080	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805046G>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1249G>A	11.37:g.31805046G>A	ENSP00000298937:p.Gly417Arg					ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q	p.G417R	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN			10	1284	+	Lung SC(675;0.225)		417					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1249G>A	CCDS7875.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.575195|3.575195	0.65878|0.65878	.|.	.|.	ENSG00000109911|ENSG00000109911	ENST00000350638|ENST00000379163	T|T	0.41758|0.43688	0.99|0.94	5.73|5.73	0.681|0.681	0.17986|0.17986	.|.	.|.	.|.	.|.	.|.	T|T	0.34366|0.34366	0.0895|0.0895	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B|B	0.17268|0.16802	0.021|0.019	B|B	0.12837|0.04013	0.008|0.001	T|T	0.19192|0.19192	-1.0313|-1.0313	9|9	0.33940|0.87932	T|D	0.23|0	.|.	5.652|5.652	0.17622|0.17622	0.3912:0.1362:0.4726:0.0|0.3912:0.1362:0.4726:0.0	.|.	417|464	Q96EB1|B4E3W0	ELP4_HUMAN|.	R|Q	417|464	ENSP00000298937:G417R|ENSP00000368461:R464Q	ENSP00000298937:G417R|ENSP00000368461:R464Q	G|R	+|+	1|2	0|0	ELP4|ELP4	31761622|31761622	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	1.254000|1.254000	0.32897|0.32897	0.156000|0.156000	0.19299|0.19299	0.557000|0.557000	0.71058|0.71058	GGA|CGG		0.498	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		3	38	0	0	0	1	0	3	38					A	31805046	G	A	31805046	3	1	138	1	0	0	0	0	1	0	0	0	5082	1117	39	2	1287	2	ELP4	11	31805046	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08	31271172	31805046	103201470	10	2461										
AHNAK	79026	broad.mit.edu	37	chr11	62297449	62297449	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	atgtcaacatcaggagctttTatctctccttctacttttgg	6	10	4	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:62297449T>C	ENST00000378024.4	-	5	4714	c.4440A>G	c.(4438-4440)atA>atG	p.I1480M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1480					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGAGCTTTTATCTCTCCTT	0.423																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4438-4440)atA>atG		AHNAK nucleoprotein							163	169	167					11																	62297449		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297449T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4440A>G	11.37:g.62297449T>C	ENSP00000367263:p.Ile1480Met					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.I1480M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4714	-		Melanoma(852;0.155)	1480					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4440A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.621323	0.00820	.	.	ENSG00000124942	ENST00000378024	T	0.00695	5.83	4.47	-6.78	0.01721	.	.	.	.	.	T	0.00468	0.0015	N	0.17872	0.535	0.19775	N	0.99996	B	0.11235	0.004	B	0.12156	0.007	T	0.47275	-0.9130	9	0.19147	T	0.46	.	0.3103	0.00287	0.2511:0.2535:0.2514:0.244	.	1480	Q09666	AHNK_HUMAN	M	1480	ENSP00000367263:I1480M	ENSP00000367263:I1480M	I	-	3	3	AHNAK	62054025	.	.	0.098000	0.21074	0.004000	0.04260	.	.	-1.179000	0.02737	-1.273000	0.01405	ATA		0.423	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		92	120	0	0	0	1	0	92	120					C	62297449	T	C	62297449	3	2	138	1	0	0	0	0	1	0	0	0	414	1744	61	4	13352	4	AHNAK	11	62297449	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08	30492403	62297449	72709067	11	2462										
MARK2	2011	broad.mit.edu	37	chr11	63669773	63669773	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	acagcgcagcgtgtcggccaAtcccaagcagcggcgcttca	12	15	1	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:63669773A>G	ENST00000509502.2	+	12	1569	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	MARK2_ENST00000508192.1_Missense_Mutation_p.N402S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000402010.2_Missense_Mutation_p.N402S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000413835.2_Missense_Mutation_p.N402S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGTCGGCCAATCCCAAGCAG	0.592																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1204-1206)aAt>aGt		MAP/microtubule affinity-regulating kinase 2							79	69	73					11																	63669773		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63669773A>G	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1106A>G	11.37:g.63669773A>G	ENSP00000423974:p.Asn369Ser					MARK2_ENST00000413835.2_Missense_Mutation_p.N402S|MARK2_ENST00000350490.7_Missense_Mutation_p.N402S|MARK2_ENST00000361128.5_Missense_Mutation_p.N402S|MARK2_ENST00000425897.2_Missense_Mutation_p.N369S|MARK2_ENST00000513765.2_Missense_Mutation_p.N369S|MARK2_ENST00000377810.3_Missense_Mutation_p.N369S|MARK2_ENST00000408948.3_Missense_Mutation_p.N369S|MARK2_ENST00000502399.3_Missense_Mutation_p.N402S|MARK2_ENST00000509502.2_Missense_Mutation_p.N369S|MARK2_ENST00000377809.4_Missense_Mutation_p.N402S|MARK2_ENST00000315032.8_Missense_Mutation_p.N402S|MARK2_ENST00000508192.1_Missense_Mutation_p.N402S	p.N402S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			12	1784	+			402						Missense_Mutation	SNP	ENST00000509502.2	37	c.1205A>G	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	A	8.850	0.944425	0.18356	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.44;-0.44;-0.43;-0.46;-0.48;-0.48;-0.46;-0.47;-0.47;-0.43;-0.48;-0.5	5.07	5.07	0.68467	.	0.051440	0.85682	D	0.000000	T	0.56572	0.1994	L	0.33485	1.01	0.46823	D	0.999213	B;B;B;P;B;B	0.44429	0.024;0.013;0.013;0.835;0.011;0.004	B;B;B;B;B;B	0.41271	0.009;0.016;0.009;0.352;0.01;0.01	T	0.58891	-0.7556	10	0.05436	T	0.98	.	13.9456	0.64082	1.0:0.0:0.0:0.0	.	369;369;402;402;402;402	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	402;402;402;402;369;402;402;402;402;369;369;369;369	ENSP00000385751:N402S;ENSP00000326632:N402S;ENSP00000367040:N402S;ENSP00000389184:N402S;ENSP00000367041:N369S;ENSP00000425765:N402S;ENSP00000355091:N402S;ENSP00000294247:N402S;ENSP00000423974:N369S;ENSP00000421075:N369S;ENSP00000386128:N369S;ENSP00000415494:N369S	ENSP00000326632:N402S	N	+	2	0	MARK2	63426349	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.699000	0.47077	2.125000	0.65367	0.454000	0.30748	AAT		0.592	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		19	31	0	0	0	1	0	19	31					G	63669773	A	G	63669773	3	3	138	1	0	0	0	0	1	0	0	0	9313	101	4	4	1251	4	MARK2	11	63669773	Missense_Mutation	SNP	A	TCGA-W2-A7HD-01A-11D-A35I-08	1372324	63669773	71336743	12	2463										
TMEM126B	55863	broad.mit.edu	37	chr11	85342776	85342776	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	atggtcagcccagtccttctCtagaagatgcaaaactcaga	8	11	3	3			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:85342776C>G	ENST00000358867.6	+	2	150	c.127C>G	c.(127-129)Cta>Gta	p.L43V	TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V|TMEM126B_ENST00000534341.1_Missense_Mutation_p.L43V	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	43						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGTCCTTCTCTAGAAGATGC	0.343																																						ENST00000534341.1																			0				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(127-129)Cta>Gta		transmembrane protein 126B							59	56	57					11																	85342776		2203	4299	6502	SO:0001583	missense	55863					integral to membrane		g.chr11:85342776C>G		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"Mitochondrial respiratory chain complex assembly factors"	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.127C>G	11.37:g.85342776C>G	ENSP00000351737:p.Leu43Val					TMEM126B_ENST00000393375.1_Missense_Mutation_p.L13V|TMEM126B_ENST00000358867.6_Missense_Mutation_p.L43V	p.L43V			Q8IUX1	T126B_HUMAN			2	133	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	43					A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.127C>G	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	C	2.802	-0.248928	0.05867	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375	T;T;T	0.54071	1.19;0.59;1.28	4.89	1.89	0.25635	.	1.056150	0.07358	N	0.883503	T	0.38108	0.1028	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.26087	-1.0113	9	.	.	.	.	4.0656	0.09859	0.1529:0.4657:0.2972:0.0842	.	43;13	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	V	43;43;13	ENSP00000351737:L43V;ENSP00000433471:L43V;ENSP00000377039:L13V	.	L	+	1	2	TMEM126B	85020424	0.010000	0.17322	0.027000	0.17364	0.091000	0.18340	-0.598000	0.05706	0.326000	0.23384	-0.150000	0.13652	CTA		0.343	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		6	53	0	0	0	1	0	6	53					G	85342776	C	G	85342776	3	3	138	1	0	0	0	0	1	0	0	0	16036	912	32	5	39	5	TMEM126B	11	85342776	Missense_Mutation	SNP	C	TCGA-W2-A7HD-01A-11D-A35I-08	21673003	85342776	49663740	13	2464										
USP28	57646	broad.mit.edu	37	chr11	113699965	113699965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	cggagggaagaagctcaacaTcaccctccaccatggcccct	9	16	2	1			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr11:113699965T>C	ENST00000003302.4	-	10	1081	c.1013A>G	c.(1012-1014)gAt>gGt	p.D338G	USP28_ENST00000542033.1_5'Flank|USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	338	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAGCTCAACATCACCCTCCAC	0.478																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1012-1014)gAt>gGt		ubiquitin specific peptidase 28							206	161	176					11																	113699965		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113699965T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1013A>G	11.37:g.113699965T>C	ENSP00000003302:p.Asp338Gly					USP28_ENST00000537706.1_Missense_Mutation_p.D338G|USP28_ENST00000545540.1_Missense_Mutation_p.D213G|USP28_ENST00000544967.1_Missense_Mutation_p.D46G|USP28_ENST00000260188.5_Missense_Mutation_p.D338G	p.D338G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	10	1081	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	338					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1013A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484177	0.84854	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T	0.73897	1.31;1.32;0.63;1.31;0.59;-0.79	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.047799	0.85682	D	0.000000	T	0.78610	0.4310	M	0.69823	2.125	0.51482	D	0.99992	P;B;B;P	0.42161	0.772;0.263;0.254;0.554	P;B;B;B	0.45577	0.486;0.369;0.375;0.389	T	0.81669	-0.0828	10	0.72032	D	0.01	-17.7618	15.3591	0.74457	0.0:0.0:0.0:1.0	.	213;338;338;46	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	G	338;338;46;213;102;338;237	ENSP00000003302:D338G;ENSP00000260188:D338G;ENSP00000442431:D46G;ENSP00000444991:D213G;ENSP00000442257:D102G;ENSP00000445743:D338G	ENSP00000003302:D338G	D	-	2	0	USP28	113205175	1.000000	0.71417	0.991000	0.47740	0.881000	0.50899	7.673000	0.83973	2.020000	0.59435	0.379000	0.24179	GAT		0.478	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			29	21	0	0	0	1	0	29	21					C	113699965	T	C	113699965	3	2	138	1	0	0	0	0	1	0	0	0	17055	1435	50	4	2284	4	USP28	11	113699965	Missense_Mutation	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08	28357189	113699965	21306551	14	2465										
ACAD10	80724	broad.mit.edu	37	chr12	112165863	112165863	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	agcccagccacagacgagccAtatacactgccatgaacaca	7	15	0	2	rs530140051		TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr12:112165863A>G	ENST00000313698.4	+	9	1314	c.1159A>G	c.(1159-1161)Ata>Gta	p.I387V	ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V|ACAD10_ENST00000455480.2_Missense_Mutation_p.I418V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	387						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGACGAGCCATATACACTGC	0.542													A|||	1	0.000199681	8e-04	0	5008	,	,		20678	0		0	False		,,,				2504	0					ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1252-1254)Ata>Gta		acyl-CoA dehydrogenase family, member 10							176	167	170					12																	112165863		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112165863A>G	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1159A>G	12.37:g.112165863A>G	ENSP00000325137:p.Ile387Val					ACAD10_ENST00000549590.1_Missense_Mutation_p.I387V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.I387V	p.I418V	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			10	1429	+			387					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1252A>G	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236961	0.39498	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.30981	1.51;1.51;1.51	5.16	2.62	0.31277	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.298701	0.34676	N	0.003762	T	0.21267	0.0512	L	0.35288	1.05	0.80722	D	1	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.19666	0.026;0.008;0.007	T	0.04930	-1.0917	10	0.29301	T	0.29	.	8.8105	0.34965	0.8266:0.0:0.1734:0.0	.	418;387;387	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	V	387;387;418;387;125;125	ENSP00000446959:I387V;ENSP00000389813:I418V;ENSP00000325137:I387V	ENSP00000325137:I387V	I	+	1	0	ACAD10	110650246	0.415000	0.25416	0.997000	0.53966	0.979000	0.70002	0.456000	0.21859	0.725000	0.32318	0.454000	0.30748	ATA		0.542	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		5	167	0	0	0	1	0	5	167					G	112165863	A	G	112165863	3	3	138	1	0	0	0	0	1	0	0	0	108	217	8	4	1286	4	ACAD10	12	112165863	Missense_Mutation	SNP	A	TCGA-W2-A7HD-01A-11D-A35I-08		112165863	21686032	15	2466										
ATP9B	374868	broad.mit.edu	37	chr18	76953241	76953241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	accacaaatggacattcacaGtttcgaaggcacatttacca	6	11	1	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chr18:76953241G>A	ENST00000426216.2	+	9	949	c.932G>A	c.(931-933)aGt>aAt	p.S311N	ATP9B_ENST00000307671.7_Missense_Mutation_p.S311N	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	311					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GACATTCACAGTTTCGAAGGC	0.333																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(931-933)aGt>aAt		ATPase, class II, type 9B							136	132	133					18																	76953241		2203	4298	6501	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76953241G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.932G>A	18.37:g.76953241G>A	ENSP00000398076:p.Ser311Asn					ATP9B_ENST00000307671.7_Missense_Mutation_p.S311N	p.S311N	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	9	949	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	311					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.932G>A	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209769	0.39003	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.67345	-0.23;-0.26	5.07	5.07	0.68467	ATPase, P-type, ATPase-associated domain (1);	0.146826	0.64402	D	0.000004	T	0.59321	0.2185	L	0.41236	1.265	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.007	T	0.54084	-0.8346	10	0.18710	T	0.47	.	18.8154	0.92075	0.0:0.0:1.0:0.0	.	311;311	O43861;O43861-2	ATP9B_HUMAN;.	N	311	ENSP00000398076:S311N;ENSP00000304500:S311N	ENSP00000304500:S311N	S	+	2	0	ATP9B	75054229	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.090000	0.71397	2.523000	0.85059	0.585000	0.79938	AGT		0.333	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		4	87	0	0	0	1	0	4	87					A	76953241	G	A	76953241	3	1	138	1	0	0	0	0	1	0	0	0	1199	1029	36	3	966	3	ATP9B	18	76953241	Missense_Mutation	SNP	G	TCGA-W2-A7HD-01A-11D-A35I-08		76953241	1124007	16	2467										
CXorf58	254158	broad.mit.edu	37	chrX	23956667	23956667	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	2.52264808362369	8.82926829268293	0	0.4	1	0	atacaaacattttctaggggTccatacttaactgtccaacc	5	11	1	0			TCGA-W2-A7HD-01A-11D-A35I-08	TCGA-W2-A7HD-10D-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	face6668-e895-4c3e-90df-0458d0ca4b71	b47faef1-217c-4eb1-bca9-c8863ec1ab6c	g.chrX:23956667T>A	ENST00000379211.3	+	8	1338	c.789T>A	c.(787-789)ggT>ggA	p.G263G		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	263										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCTAGGGGTCCATACTTAA	0.333																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(787-789)ggT>ggA		chromosome X open reading frame 58							65	64	64					X																	23956667		2203	4300	6503	SO:0001819	synonymous_variant	254158							g.chrX:23956667T>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.789T>A	X.37:g.23956667T>A							p.G263G	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			8	1338	+			263						Silent	SNP	ENST00000379211.3	37	c.789T>A	CCDS14209.1																																																																																				0.333	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		4	95	0	0	0	1	0	4	95					A	23956667	T	A	23956667	2	1	138	1	0	0	0	0	0	0	0	1	4114	1654	58	5		5	CXorf58	23	23956667	Silent	SNP	T	TCGA-W2-A7HD-01A-11D-A35I-08		23956667	131313893	17	2468										
IP6K2	51447	broad.mit.edu	37	chr3	48732374	48732374	+	Intron	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	ggtgtgagatgctgggctgaGggccaggaggaggagaagga							TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr3:48732374delG	ENST00000328631.5	-	2	426				IP6K2_ENST00000449610.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000446860.1_Frame_Shift_Del_p.P175fs|IP6K2_ENST00000417896.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000453202.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000443964.1_Frame_Shift_Del_p.P176fs|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000431721.2_Frame_Shift_Del_p.P172fs	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GCTGGGCTGAGGGCCaggagg	0.532																																						ENST00000431721.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(514-516)ccfs		inositol hexakisphosphate kinase 2																																				SO:0001627	intron_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732374delG	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+148C>-	3.37:g.48732374delG						IP6K2_ENST00000453202.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000417896.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000449610.1_Frame_Shift_Del_p.P117fs|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000443964.1_Frame_Shift_Del_p.P176fs|IP6K2_ENST00000446860.1_Frame_Shift_Del_p.P175fs|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000340879.4_Intron	p.P172fs	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN			3	753	-			0					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Del	DEL	ENST00000328631.5	37	c.516delC	CCDS2777.1																																																																																				0.532	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		2	4						2	4	---	---	---	---	-	48732374	G	-	48732374	6	5	139	0	1	1	0	1	0	0	0	0	7789	987	35	0		0	IP6K2	3	48732374	Intron	DEL	G	TCGA-W2-A7HE-01A-11D-A35I-08		48732374	149290056	1	2469										
HPS3	84343	broad.mit.edu	37	chr3	148884979	148884979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atactgttagagagatgcccGgaggcagtcattccatatgc	11	9	1	2			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr3:148884979G>A	ENST00000296051.2	+	15	2888	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	HPS3_ENST00000460120.1_Silent_p.P751P	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	916					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAGATGCCCGGAGGCAGTCA	0.423									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2746-2748)ccG>ccA		Hermansky-Pudlak syndrome 3							95	95	95					3																	148884979		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148884979G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2748G>A	3.37:g.148884979G>A						HPS3_ENST00000460120.1_Silent_p.P751P	p.P916P	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	2888	+			916					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.2748G>A	CCDS3140.1																																																																																				0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		3	41	0	0	0	1	0	3	41					A	148884979	G	A	148884979	2	1	139	1	0	0	0	0	0	0	0	1	7340	1103	39	2		2	HPS3	3	148884979	Silent	SNP	G	TCGA-W2-A7HE-01A-11D-A35I-08	100152605	148884979	49137451	2	2470										
PCDHA10	56139	broad.mit.edu	37	chr5	140236812	140236812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tctctgacgcctcacgttccGttcaagctggtgtccaccta	8	15	3	1	rs148283153		TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr5:140236812G>A	ENST00000307360.5	+	1	1179	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTTCCGTTCAAGCTGG	0.567																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1177-1179)ccG>ccA									145	127	133					5																	140236812		2197	4273	6470	SO:0001819	synonymous_variant	56139							g.chr5:140236812G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1179G>A	5.37:g.140236812G>A						PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.P393P	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1179	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1179G>A	CCDS54921.1																																																																																				0.567	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		8	47	0	0	0	1	0	8	47					A	140236812	G	A	140236812	2	1	139	1	0	0	0	0	0	0	0	1	11520	1132	40	1		1	PCDHA10	5	140236812	Silent	SNP	G	TCGA-W2-A7HE-01A-11D-A35I-08		140236812	40678448	3	2471										
SOX4	6659	broad.mit.edu	37	chr6	21595266	21595267	+	In_Frame_Ins	INS	-	-	GGC													0	0	1	0	NA	0	1	1	0	gtggcgggggcggccatgggINSggcggcggcggcggcgggag					rs564094826	byFrequency	TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr6:21595266_21595267insGGC	ENST00000244745.1	+	1	1295_1296	c.501_502insGGC	c.(502-504)ggc>GGCggc	p.168_168G>GG	SOX4_ENST00000543472.1_In_Frame_Ins_p.168_168G>GG	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	168					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			gcggccatgggggcggcggcgg	0.738														127	0.0253594	0.0923	0.0043	5008	,	,		7118	0		0.002	False		,,,				2504	0					ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(499-504)gggcgg>ggGGCgcgg		SRY (sex determining region Y)-box 4																																				SO:0001652	inframe_insertion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595266_21595267insGGC	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.514_516dupGGC	6.37:g.21595273_21595275dupGGC	ENSP00000244745:p.Gly173dup					SOX4_ENST00000543472.1_In_Frame_Ins_p.167_168GR>GAR	p.167_168GR>GAR	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1295_1296	+	Ovarian(93;0.163)		167						In_Frame_Ins	INS	ENST00000244745.1	37	c.501_502insGGC	CCDS4547.1																																																																																				0.738	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	7						4	7	---	---	---	---	GGC	21595267	-	GGC	21595266	7	5	139	1	0	1	1	0	0	0	0	0	14953	1219	43	0	503	0	SOX4	6	21595266	In_Frame_Ins	INS	-	TCGA-W2-A7HE-01A-11D-A35I-08		21595266	149519801	4	2472										
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	11	14	0	0	rs563987595	byFrequency	TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0	5008	,	,		8050	0.002		0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	18	0	0	0	1	0	3	18					G	45390445	A	G	45390445	2	3	139	1	0	0	0	0	0	0	0	1	13748	40	2	4		4	RUNX2	6	45390445	Silent	SNP	A	TCGA-W2-A7HE-01A-11D-A35I-08	23795179	45390445	125724622	5	2473										
OR2A2	442361	broad.mit.edu	37	chr7	143807113	143807113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcacgatcctggttctcacGtcctggtcatgtgggtttgc	12	11	2	0	rs141248378	byFrequency	TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr7:143807113G>A	ENST00000408979.2	+	1	507	c.438G>A	c.(436-438)acG>acA	p.T146T		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T146T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGTTCTCACGTCCTGGTCAT	0.517													.|||	16	0.00319489	8e-04	0	5008	,	,		19673	0.0129		0	False		,,,				2504	0.002					ENST00000408979.2																			1	Substitution - coding silent(1)	p.T146T(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(436-438)acG>acA		olfactory receptor, family 2, subfamily A, member 2		G		0,4134		0,0,2067	138	130	133		438	-7.2	0	7	dbSNP_134	133	1,8447		0,1,4223	no	coding-synonymous	OR2A2	NM_001005480.2		0,1,6290	AA,AG,GG		0.0118,0.0,0.0079		146/319	143807113	1,12581	2067	4224	6291	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807113G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.438G>A	7.37:g.143807113G>A							p.T146T	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	507	+	Melanoma(164;0.0783)		146					B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.438G>A	CCDS43671.1																																																																																				0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			22	55	0	0	0	1	0	22	55					A	143807113	G	A	143807113	2	1	139	1	0	0	0	0	0	0	0	1	10977	1132	40	1		1	OR2A2	7	143807113	Silent	SNP	G	TCGA-W2-A7HE-01A-11D-A35I-08		143807113	15331550	6	2474										
SLC6A5	9152	broad.mit.edu	37	chr11	20622825	20622825	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	ccccgccgccgccacgtgtgCccaggtccgcttccaccggc							TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr11:20622825delC	ENST00000525748.1	+	2	427	c.154delC	c.(154-156)cccfs	p.P52fs		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	52					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCACGTGTGCCCAGGTCCGC	0.741																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(154-156)ccfs		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						4	5	5					11																	20622825		1838	3763	5601	SO:0001589	frameshift_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622825delC	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.154delC	11.37:g.20622825delC	ENSP00000434364:p.Pro52fs						p.P52fs	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			2	427	+			52					O95288|Q4VAM7|Q9BX77	Frame_Shift_Del	DEL	ENST00000525748.1	37	c.154delC	CCDS7854.1																																																																																				0.741	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		2	4						2	4	---	---	---	---	-	20622825	C	-	20622825	7	5	139	1	0	1	0	1	0	0	0	0	14687	739	26	0	160	0	SLC6A5	11	20622825	Frame_Shift_Del	DEL	C	TCGA-W2-A7HE-01A-11D-A35I-08		20622825	114383691	7	2475										
LRRC28	123355	broad.mit.edu	37	chr15	99903465	99903465	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acgccaatggcagggctgcaCcagtggtaatcatgcctaag	12	11	1	0	rs147857587		TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr15:99903465C>A	ENST00000301981.3	+	9	1266	c.1026C>A	c.(1024-1026)caC>caA	p.H342Q	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.H273Q	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	342										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CAGGGCTGCACCAGTGGTAAT	0.567																																						ENST00000301981.3																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(1024-1026)caC>caA		leucine rich repeat containing 28							78	66	70					15																	99903465		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99903465C>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1026C>A	15.37:g.99903465C>A	ENSP00000304923:p.His342Gln					LRRC28_ENST00000422500.2_Missense_Mutation_p.H273Q|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron	p.H342Q	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		9	1266	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		342					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.1026C>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559380	0.86335	.	.	ENSG00000168904	ENST00000301981;ENST00000422500	T;T	0.45668	0.89;1.32	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.75484	0.986;0.979	T	0.47935	-0.9078	10	0.17369	T	0.5	.	12.216	0.54406	0.0:0.9143:0.0:0.0857	.	273;342	B4DHL3;Q86X40	.;LRC28_HUMAN	Q	342;273	ENSP00000304923:H342Q;ENSP00000398606:H273Q	ENSP00000304923:H342Q	H	+	3	2	LRRC28	97720988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.891000	0.48617	2.718000	0.92993	0.650000	0.86243	CAC		0.567	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		4	42	1	0	1.23904e-05	1	1.23904e-05	4	42					A	99903465	C	A	99903465	3	1	139	1	0	0	0	0	1	0	0	0	8982	506	18	5	1056	5	LRRC28	15	99903465	Missense_Mutation	SNP	C	TCGA-W2-A7HE-01A-11D-A35I-08		99903465	2627927	8	2476										
RNF213	57674	broad.mit.edu	37	chr17	78333905	78333905	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgtggtgcagaaccacatgaAcctttccgagaacgcttcca	9	13	0	3			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chr17:78333905A>T	ENST00000582970.1	+	38	11242	c.11099A>T	c.(11098-11100)aAc>aTc	p.N3700I	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.N3749I|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.N1773I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3700					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCACATGAACCTTTCCGAG	0.488																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(11098-11100)aAc>aTc		ring finger protein 213							157	110	126					17																	78333905		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78333905A>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11099A>T	17.37:g.78333905A>T	ENSP00000464087:p.Asn3700Ile					RNF213_ENST00000508628.2_Missense_Mutation_p.N3749I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.N1773I	p.N3700I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		38	11242	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11099A>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	8.339	0.828281	0.16749	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21361	2.01	5.39	-4.4	0.03600	.	1.105250	0.06592	N	0.752290	T	0.17534	0.0421	M	0.65975	2.015	0.09310	N	1	B;B	0.30973	0.302;0.059	B;B	0.30495	0.116;0.033	T	0.24012	-1.0172	10	0.22109	T	0.4	.	3.0083	0.06035	0.274:0.2878:0.3353:0.1029	.	3749;1773	C9JCP4;Q63HN8	.;RN213_HUMAN	I	3700;3749;1773	ENSP00000338218:N1773I	ENSP00000338218:N1773I	N	+	2	0	RNF213	75948500	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.044000	0.12023	-1.344000	0.02216	-1.176000	0.01726	AAC		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		5	14	0	0	0	1	0	5	14					T	78333905	A	T	78333905	3	4	139	1	0	0	0	0	1	0	0	0	13477	43	2	5	11564	5	RNF213	17	78333905	Missense_Mutation	SNP	A	TCGA-W2-A7HE-01A-11D-A35I-08		78333905	2861305	9	2477										
RAB39B	116442	broad.mit.edu	37	chrX	154493536	154493536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccactgtggaatccccgatgAcaatgagccggaactggtac	11	12	0	2			TCGA-W2-A7HE-01A-11D-A35I-08	TCGA-W2-A7HE-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1874e215-23e2-4990-97af-ab2ce3d029b9	3e485cf9-75ec-4d2c-90bc-1bbfed18c316	g.chrX:154493536A>C	ENST00000369454.3	-	1	338	c.38T>G	c.(37-39)gTc>gGc	p.V13G		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	13					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.V13D(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCCCGATGACAATGAGCCG	0.667																																						ENST00000369454.3																			1	Substitution - Missense(1)	p.V13D(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(37-39)gTc>gGc		RAB39B, member RAS oncogene family							83	84	83					X																	154493536		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154493536A>C	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.38T>G	X.37:g.154493536A>C	ENSP00000358466:p.Val13Gly						p.V13G	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			1	338	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		13					Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.38T>G	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477713	0.84640	.	.	ENSG00000155961	ENST00000369454	D	0.83163	-1.69	5.12	5.12	0.69794	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000002	D	0.90960	0.7158	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.92146	0.5724	10	0.87932	D	0	.	12.0569	0.53540	1.0:0.0:0.0:0.0	.	13	Q96DA2	RB39B_HUMAN	G	13	ENSP00000358466:V13G	ENSP00000358466:V13G	V	-	2	0	RAB39B	154146730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	1.820000	0.53075	0.486000	0.48141	GTC		0.667	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		3	32	0	0	0	1	0	3	32					C	154493536	A	C	154493536	3	2	139	1	0	0	0	0	1	0	0	0	12930	275	10	5	611	5	RAB39B	23	154493536	Missense_Mutation	SNP	A	TCGA-W2-A7HE-01A-11D-A35I-08		154493536	777024	10	2478										
AIM2	9447	broad.mit.edu	37	chr1	159033464	159033464	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	gtttttcttcttttctgttaCctataaaagaaaatcaacac	3	8	4	1			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr1:159033464C>A	ENST00000368130.4	-	5	1105	c.817G>T	c.(817-819)Gta>Tta	p.V273L	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	273	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTCTGTTACCTATAAAAGA	0.383																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.e5-1		absent in melanoma 2							85	90	88					1																	159033464		2203	4300	6503	SO:0001630	splice_region_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159033464C>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.817-1G>T	1.37:g.159033464C>A						AIM2_ENST00000481829.1_5'UTR	p.V273_splice	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			5	1105	-	all_hematologic(112;0.0429)		273			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Splice_Site	SNP	ENST00000368130.4	37	c.816_splice	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744087	0.15710	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.14022	2.54;2.54	3.92	1.59	0.23543	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	1.789980	0.03564	N	0.227459	T	0.03136	0.0092	N	0.22421	0.69	0.09310	N	1	B	0.21688	0.059	B	0.16722	0.016	T	0.39860	-0.9593	10	0.54805	T	0.06	-0.0704	5.2747	0.15643	0.0:0.2554:0.0:0.7446	.	273	O14862	AIM2_HUMAN	L	273;136	ENSP00000357112:V273L;ENSP00000357111:V136L	ENSP00000357111:V136L	V	-	1	0	AIM2	157300088	0.031000	0.19500	0.008000	0.14137	0.014000	0.08584	0.008000	0.13197	0.200000	0.20447	-0.367000	0.07326	GTA		0.383	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	Missense_Mutation	4	97	1	0	1	1	1	4	97					A	159033464	C	A	159033464	5	1	140	1	0	0	0	0	0	0	1	0	432	521	18	5	222	5	AIM2	1	159033464	Splice_Site	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		159033464	90217157	1	2479										
FAM162A	26355	broad.mit.edu	37	chr3	122103139	122103139	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	agcctcagcggtctgcgcctGgcagcaggtgagacgccggt							TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr3:122103139delG	ENST00000477892.1	+	1	111	c.27delG	c.(25-27)ctgfs	p.L9fs	CCDC58_ENST00000479899.1_5'Flank|CCDC58_ENST00000291458.5_5'Flank|CCDC58_ENST00000497726.1_5'Flank|FAM162A_ENST00000232125.5_5'UTR|FAM162A_ENST00000469967.1_Frame_Shift_Del_p.L9fs	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	9					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						GTCTGCGCCTGGCAGCAGGTG	0.692																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(25-27)ctfs		family with sequence similarity 162, member A							13	18	16					3																	122103139		1976	4147	6123	SO:0001589	frameshift_variant	26355					integral to membrane		g.chr3:122103139delG	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.27delG	3.37:g.122103139delG	ENSP00000419088:p.Leu9fs					FAM162A_ENST00000232125.5_5'UTR|FAM162A_ENST00000469967.1_Frame_Shift_Del_p.L9fs	p.L9fs	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN			1	111	+			9					Q9NRN6|Q9UJX8	Frame_Shift_Del	DEL	ENST00000477892.1	37	c.27delG	CCDS43139.1																																																																																				0.692	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		2	4						2	4	---	---	---	---	-	122103139	G	-	122103139	7	5	140	1	0	1	0	1	0	0	0	0	5474	1335	47	0	29	0	FAM162A	3	122103139	Frame_Shift_Del	DEL	G	TCGA-W2-A7HF-01A-11D-A35I-08		122103139	75919291	2	2480										
PCDHGA1	56114	broad.mit.edu	37	chr5	140712578	140712578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	tttcccccagcccaactatgCggacacactcatcagccagg	7	17	2	0			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr5:140712578C>T	ENST00000517417.1	+	1	2327	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A776V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	776					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTATGCGGACACACTC	0.527																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2326-2328)gCg>gTg									115	124	121					5																	140712578		2203	4300	6503	SO:0001583	missense	56114							g.chr5:140712578C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2327C>T	5.37:g.140712578C>T	ENSP00000431083:p.Ala776Val					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A776V	p.A776V	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2327	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2327C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.421617	0.25639	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.50548	0.77;0.74	4.04	3.13	0.36017	.	0.814474	0.10297	N	0.691649	T	0.46151	0.1378	M	0.70842	2.15	0.09310	N	1	B;B	0.27380	0.177;0.111	B;B	0.28465	0.09;0.07	T	0.42716	-0.9435	10	0.46703	T	0.11	.	6.5483	0.22418	0.0:0.7109:0.1803:0.1089	.	776;776	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	776	ENSP00000431083:A776V;ENSP00000367345:A776V	ENSP00000367345:A776V	A	+	2	0	PCDHGA1	140692762	0.001000	0.12720	0.016000	0.15963	0.625000	0.37756	0.311000	0.19380	0.980000	0.38523	0.585000	0.79938	GCG		0.527	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		4	198	0	0	0	1	0	4	198					T	140712578	C	T	140712578	3	4	140	1	0	0	0	0	1	0	0	0	11550	768	27	1	2329	1	PCDHGA1	5	140712578	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		140712578	40202682	3	2481										
TAS2R60	338398	broad.mit.edu	37	chr7	143140670	143140670	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	tggcttcatcactgctgctcTgggcgtggagtgggtgctac	15	10	3	0			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr7:143140670T>C	ENST00000332690.1	+	1	125	c.125T>C	c.(124-126)cTg>cCg	p.L42P	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	42					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACTGCTGCTCTGGGCGTGGAG	0.502																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(124-126)cTg>cCg		taste receptor, type 2, member 60							240	216	224					7																	143140670		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140670T>C	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.125T>C	7.37:g.143140670T>C	ENSP00000327724:p.Leu42Pro					EPHA1-AS1_ENST00000429289.1_RNA	p.L42P	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	125	+	Melanoma(164;0.172)		42					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.125T>C	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566252	0.27915	.	.	ENSG00000185899	ENST00000332690	T	0.44881	0.91	5.68	4.51	0.55191	.	0.849973	0.09990	U	0.729885	T	0.65344	0.2682	M	0.81341	2.54	0.24200	N	0.995511	D	0.89917	1.0	D	0.97110	1.0	T	0.50915	-0.8771	10	0.54805	T	0.06	.	9.0472	0.36354	0.1636:0.0:0.0:0.8364	.	42	P59551	T2R60_HUMAN	P	42	ENSP00000327724:L42P	ENSP00000327724:L42P	L	+	2	0	TAS2R60	142850792	0.046000	0.20272	0.007000	0.13788	0.017000	0.09413	1.989000	0.40707	0.967000	0.38186	0.533000	0.62120	CTG		0.502	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			14	137	0	0	0	1	0	14	137					C	143140670	T	C	143140670	3	2	140	1	0	0	0	0	1	0	0	0	15582	1580	55	4	127	4	TAS2R60	7	143140670	Missense_Mutation	SNP	T	TCGA-W2-A7HF-01A-11D-A35I-08		143140670	15997993	4	2482										
CSGALNACT1	55790	broad.mit.edu	37	chr8	19263389	19263389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	cagctggccgtgggatgcctCgttcatggccttggactgca	14	12	1	0			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr8:19263389C>T	ENST00000454498.2	-	10	2514	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E501K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	501					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGGATGCCTCGTTCATGGCC	0.552																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1501-1503)Gag>Aag		chondroitin sulfate N-acetylgalactosaminyltransferase 1							160	132	142					8																	19263389		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19263389C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1501G>A	8.37:g.19263389C>T	ENSP00000411816:p.Glu501Lys					CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E501K|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E501K	p.E501K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	10	2514	-			501					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.1501G>A	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	36	5.871622	0.97049	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05419	-1.0886	10	0.29301	T	0.29	-43.9703	18.8621	0.92276	0.0:1.0:0.0:0.0	.	501	Q8TDX6	CGAT1_HUMAN	K	501	ENSP00000411816:E501K;ENSP00000330805:E501K;ENSP00000310891:E501K;ENSP00000429809:E501K;ENSP00000442155:E501K	ENSP00000310891:E501K	E	-	1	0	CSGALNACT1	19307669	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.420000	0.80191	2.802000	0.96397	0.655000	0.94253	GAG		0.552	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		6	82	0	0	0	1	0	6	82					T	19263389	C	T	19263389	3	4	140	1	0	0	0	0	1	0	0	0	3938	893	31	2	101	2	CSGALNACT1	8	19263389	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		19263389	127100633	5	2483										
FAM166A	401565	broad.mit.edu	37	chr9	140139634	140139634	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	cgtctcctgctggcggcgggCggggggtgggtactcatccc	18	13	2	0			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr9:140139634C>G	ENST00000344774.4	-	4	613	c.559G>C	c.(559-561)Gcc>Ccc	p.A187P	FAM166A_ENST00000388932.2_Missense_Mutation_p.A187P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	187						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGCGGCGGGCGGGGGGTGGG	0.662																																						ENST00000344774.4																			0				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						c.(559-561)Gcc>Ccc		family with sequence similarity 166, member A							23	29	27					9																	140139634		2193	4271	6464	SO:0001583	missense	401565							g.chr9:140139634C>G	BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.559G>C	9.37:g.140139634C>G	ENSP00000344729:p.Ala187Pro					FAM166A_ENST00000388932.2_Missense_Mutation_p.A187P	p.A187P	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN			4	613	-			187					A6NND9|Q8N830	Missense_Mutation	SNP	ENST00000344774.4	37	c.559G>C	CCDS35186.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045845	0.19748	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	.	.	.	5.02	-0.848	0.10727	.	1.387220	0.04677	N	0.411604	T	0.37461	0.1004	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	9	0.27082	T	0.32	-1.0629	10.8355	0.46685	0.0:0.599:0.3:0.101	.	187	Q6J272	F166A_HUMAN	P	187;187;214	.	ENSP00000344729:A187P	A	-	1	0	FAM166A	139259455	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.125000	0.10579	-0.114000	0.11936	-0.254000	0.11334	GCC		0.662	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356125.1	NM_001001710		5	38	0	0	0	1	0	5	38					G	140139634	C	G	140139634	3	3	140	1	0	0	0	0	1	0	0	0	5481	768	27	5	410	5	FAM166A	9	140139634	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		140139634	1073797	6	2484										
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	gcagctggactgggagcagcTgggcttgcagcagctggact	17	10	0	0	rs75371407		TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			4	242	0	0	0	1	0	4	242					A	1629156	T	A	1629156	3	1	140	1	0	0	0	0	1	0	0	0	8562	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-W2-A7HF-01A-11D-A35I-08		1629156	133377360	7	2485										
SACS	26278	broad.mit.edu	37	chr13	23909416	23909416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	aagaggcaaaaaacagaaggCcctatggggttttttatagt	11	5	0	2			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr13:23909416C>A	ENST00000382292.3	-	9	8872	c.8599G>T	c.(8599-8601)Gcc>Tcc	p.A2867S	SACS_ENST00000382298.3_Missense_Mutation_p.A2867S|SACS_ENST00000402364.1_Missense_Mutation_p.A2117S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2867					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAGAAGGCCCTATGGGGT	0.453																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8599-8601)Gcc>Tcc		spastic ataxia of Charlevoix-Saguenay (sacsin)							57	62	60					13																	23909416		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909416C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8599G>T	13.37:g.23909416C>A	ENSP00000371729:p.Ala2867Ser					SACS_ENST00000382292.3_Missense_Mutation_p.A2867S|SACS_ENST00000402364.1_Missense_Mutation_p.A2117S	p.A2867S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9187	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2867					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8599G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358185	0.82243	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90261	-2.51;-2.64;-2.51	5.4	5.4	0.78164	.	0.115652	0.64402	D	0.000018	D	0.91620	0.7352	M	0.69823	2.125	0.46437	D	0.999047	P	0.40050	0.7	B	0.42625	0.393	D	0.91769	0.5426	10	0.51188	T	0.08	.	19.1639	0.93546	0.0:1.0:0.0:0.0	.	2867	Q9NZJ4	SACS_HUMAN	S	2867;2117;2867	ENSP00000371729:A2867S;ENSP00000385844:A2117S;ENSP00000371735:A2867S	ENSP00000371729:A2867S	A	-	1	0	SACS	22807416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.525000	0.85131	0.555000	0.69702	GCC		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		27	34	1	0	3.73148e-12	1	3.90917e-12	27	34					A	23909416	C	A	23909416	3	1	140	1	0	0	0	0	1	0	0	0	13804	739	26	5	5144	5	SACS	13	23909416	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		23909416	91260462	8	2486										
TUBB4	10382	broad.mit.edu	37	chr19	6495551	6495551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	ccacctccttcatggacatgCggccccggaacacggcggcc	11	18	1	0			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr19:6495551C>T	ENST00000264071.2	-	4	1330	c.959G>A	c.(958-960)cGc>cAc	p.R320H	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	320					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CATGGACATGCGGCCCCGGAA	0.637																																						ENST00000264071.2																			0											c.(958-960)cGc>cAc		tubulin, beta 4A class IVa							114	97	103					19																	6495551		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495551C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.959G>A	19.37:g.6495551C>T	ENSP00000264071:p.Arg320His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H	p.R320H			P04350	TBB4_HUMAN			4	1330	-			320					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.959G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373060	0.42105	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.84298	-1.83;-1.83	3.43	3.43	0.39272	.	0.000000	0.64402	D	0.000001	D	0.82852	0.5127	M	0.64630	1.985	0.52501	D	0.999955	B	0.12630	0.006	B	0.10450	0.005	T	0.82285	-0.0533	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	320	P04350	TBB4A_HUMAN	H	320;320;238	ENSP00000264071:R320H;ENSP00000443590:R320H	ENSP00000264071:R320H	R	-	2	0	TUBB4	6446551	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.580000	0.82523	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		4	123	0	0	0	1	0	4	123					T	6495551	C	T	6495551	3	4	140	1	0	0	0	0	1	0	0	0	16755	768	27	1	379	1	TUBB4	19	6495551	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		6495551	52633432	9	2487										
SMARCA4	6597	broad.mit.edu	37	chr19	11136124	11136124	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	ggcggcaccaagaccctgatGaacaccatcatgcagctgcg	11	14	1	3	rs1801514		TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr19:11136124G>C	ENST00000429416.3	+	23	3389	c.3108G>C	c.(3106-3108)atG>atC	p.M1036I	SMARCA4_ENST00000413806.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M1036I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M1036I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M1036I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M1036I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M1036I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1036			M -> I (in dbSNP:rs1801514).		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGACCCTGATGAACACCATCA	0.637			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3106-3108)atG>atC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							110	90	97					19																	11136124		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11136124G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3108G>C	19.37:g.11136124G>C	ENSP00000395654:p.Met1036Ile					SMARCA4_ENST00000541122.2_Missense_Mutation_p.M1036I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M1036I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M1036I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M1036I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M1036I	p.M1036I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			22	3392	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1036		M -> I (in dbSNP:rs1801514).			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3108G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928688	0.92389	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	4.79	4.79	0.61399	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	L	0.39020	1.185	0.58432	D	0.999999	P;P;P;P;P;B;P;P	0.43094	0.662;0.662;0.662;0.799;0.629;0.151;0.662;0.662	P;P;P;P;B;B;P;P	0.55222	0.643;0.544;0.544;0.771;0.326;0.118;0.643;0.643	T	0.80797	-0.1222	10	0.87932	D	0	-47.5382	16.7568	0.85502	0.0:0.0:1.0:0.0	.	1036;1036;1036;1036;1036;256;1036;1036	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	I	1036;1036;1100;1036;1036;1036;1036;1036	ENSP00000395654:M1036I;ENSP00000350720:M1036I;ENSP00000343896:M1036I;ENSP00000445036:M1036I;ENSP00000392837:M1036I;ENSP00000397783:M1036I;ENSP00000414727:M1036I	ENSP00000343896:M1036I	M	+	3	0	SMARCA4	10997124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.565000	0.82337	2.486000	0.83907	0.655000	0.94253	ATG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	34	0	0	0	1	0	4	34					C	11136124	G	C	11136124	3	2	140	1	0	0	0	0	1	0	0	0	14770	1290	45	5	3190	5	SMARCA4	19	11136124	Missense_Mutation	SNP	G	TCGA-W2-A7HF-01A-11D-A35I-08	4640573	11136124	47992859	10	2488										
NINL	22981	broad.mit.edu	37	chr20	25459587	25459587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	ctgcaggtggctgtgatgccGcagggccaggccacacagtg	16	12	0	1			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chr20:25459587G>A	ENST00000278886.6	-	16	2246	c.2173C>T	c.(2173-2175)Cgg>Tgg	p.R725W	NINL_ENST00000422516.1_Missense_Mutation_p.R725W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	725					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGATGCCGCAGGGCCAGG	0.592																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2173-2175)Cgg>Tgg		ninein-like							32	38	36					20																	25459587		2203	4298	6501	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25459587G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2173C>T	20.37:g.25459587G>A	ENSP00000278886:p.Arg725Trp					NINL_ENST00000422516.1_Missense_Mutation_p.R725W	p.R725W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			16	2246	-			725					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2173C>T	CCDS33452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.31|12.31	1.898391|1.898391	0.33535|0.33535	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000336104|ENST00000278886;ENST00000422516	.|T;T	.|0.33438	.|1.51;1.41	4.12|4.12	-0.294|-0.294	0.12831|0.12831	.|.	.|0.459125	.|0.21179	.|N	.|0.078859	T|T	0.13200|0.13200	0.0320|0.0320	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17465	.|0.022;0.002	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.52906	.|T	.|0.07	-22.6168|-22.6168	6.5405|6.5405	0.22377|0.22377	0.4812:0.0:0.5188:0.0|0.4812:0.0:0.5188:0.0	.|.	.|725;725	.|Q9Y2I6-2;Q9Y2I6	.|.;NINL_HUMAN	V|W	26|725	.|ENSP00000278886:R725W;ENSP00000410431:R725W	.|ENSP00000278886:R725W	A|R	-|-	2|1	0|2	NINL|NINL	25407587|25407587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.078000|0.078000	0.17371|0.17371	-0.351000|-0.351000	0.07711|0.07711	-0.015000|-0.015000	0.14150|0.14150	-0.137000|-0.137000	0.14449|0.14449	GCG|CGG		0.592	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		3	36	0	0	0	1	0	3	36					A	25459587	G	A	25459587	3	1	140	1	0	0	0	0	1	0	0	0	10420	1086	38	1	2011	1	NINL	20	25459587	Missense_Mutation	SNP	G	TCGA-W2-A7HF-01A-11D-A35I-08		25459587	37565933	11	2489										
SSX3	10214	broad.mit.edu	37	chrX	48206947	48206947	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	1	1	1.61111111111111	4.83333333333333	0	1	1	0	tctcttacggagttactcatCatcttcctcaggatcgctga	7	12	5	1			TCGA-W2-A7HF-01A-11D-A35I-08	TCGA-W2-A7HF-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b7745a-0f8b-4cb5-81b5-12a66d55aeff	bee9bc77-03d3-44a2-9668-fffc359ed20f	g.chrX:48206947C>A	ENST00000298396.2	-	7	611	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	SSX3_ENST00000376895.1_Missense_Mutation_p.D99Y	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						AGTTACTCATCATCTTCCTCA	0.502																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(559-561)Gat>Tat		synovial sarcoma, X breakpoint 3							354	305	322					X																	48206947		2203	4300	6503	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48206947C>A	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.559G>T	X.37:g.48206947C>A	ENSP00000298396:p.Asp187Tyr					SSX3_ENST00000376895.1_Missense_Mutation_p.D99Y	p.D187Y	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	611	-			187					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.559G>T	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592245	0.28357	.	.	ENSG00000165584	ENST00000298396;ENST00000376895	T;T	0.39787	2.46;1.06	1.86	1.86	0.25419	SSXRD motif (1);	0.439796	0.19437	N	0.114282	T	0.51686	0.1689	L	0.50333	1.59	0.18873	N	0.999989	D	0.89917	1.0	D	0.79784	0.993	T	0.23476	-1.0187	10	0.87932	D	0	.	6.5227	0.22285	0.0:1.0:0.0:0.0	.	187	Q99909	SSX3_HUMAN	Y	187;99	ENSP00000298396:D187Y;ENSP00000366092:D99Y	ENSP00000298396:D187Y	D	-	1	0	SSX3	48091891	0.005000	0.15991	0.047000	0.18901	0.036000	0.12997	0.474000	0.22148	1.205000	0.43262	0.358000	0.22013	GAT		0.502	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		125	159	1	0	9.55279e-52	1	1.05081e-51	125	159					A	48206947	C	A	48206947	3	1	140	1	0	0	0	0	1	0	0	0	15204	826	29	5	11	5	SSX3	23	48206947	Missense_Mutation	SNP	C	TCGA-W2-A7HF-01A-11D-A35I-08		48206947	107063613	12	2490										
POLR1A	25885	broad.mit.edu	37	chr2	86276075	86276075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atcaatcatgttaaaatcccTctggtccttgcccagatggg	8	11	3	1			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:86276075T>C	ENST00000263857.6	-	18	2944	c.2566A>G	c.(2566-2568)Agg>Ggg	p.R856G	POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	856					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTAAAATCCCTCTGGTCCTTG	0.473																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2566-2568)Agg>Ggg		polymerase (RNA) I polypeptide A, 194kDa							122	116	118					2																	86276075		1941	4143	6084	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86276075T>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2566A>G	2.37:g.86276075T>C	ENSP00000263857:p.Arg856Gly					POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G	p.R856G			O95602	RPA1_HUMAN			18	2944	-			856					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2566A>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.366143	0.61513	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.76968	-1.06;-1.06	5.57	-0.358	0.12575	RNA polymerase Rpb1, domain 4 (1);	0.045170	0.85682	D	0.000000	T	0.76047	0.3933	L	0.39245	1.2	0.49915	D	0.999835	P	0.47677	0.899	P	0.52598	0.703	T	0.75077	-0.3445	10	0.46703	T	0.11	-33.0327	14.1585	0.65432	0.0:0.0:0.4979:0.5021	.	856	O95602	RPA1_HUMAN	G	856	ENSP00000263857:R856G;ENSP00000386300:R856G	ENSP00000263857:R856G	R	-	1	2	POLR1A	86129586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	0.077000	0.16863	0.533000	0.62120	AGG		0.473	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		22	55	0	0	0	1	0	22	55					C	86276075	T	C	86276075	3	2	141	1	0	0	0	0	1	0	0	0	12209	1550	54	4	2664	4	POLR1A	2	86276075	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08		86276075	156923298	1	2491										
SCN2A	6326	broad.mit.edu	37	chr2	166172011	166172011	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagccgcatctgctgaatcaAgagacttcagtggtgctggt	12	10	3	2			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:166172011A>G	ENST00000375437.2	+	11	1704	c.1414A>G	c.(1414-1416)Aga>Gga	p.R472G	SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R472G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	472					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTGAATCAAGAGACTTCAG	0.413																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1414-1416)Aga>Gga		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						62	69	67					2																	166172011		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166172011A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1414A>G	2.37:g.166172011A>G	ENSP00000364586:p.Arg472Gly					SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R472G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G	p.R472G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			11	1704	+			472					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1414A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159699	0.38119	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96427	-4.01;-3.99;-3.99;-3.99;-3.99	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000002	D	0.93207	0.7836	L	0.41824	1.3	0.32828	D	0.503632	B;P	0.39071	0.409;0.658	B;B	0.39590	0.237;0.304	D	0.93927	0.7211	10	0.25751	T	0.34	.	11.7228	0.51691	0.7302:0.2697:0.0:0.0	.	472;472	Q99250-2;Q99250	.;SCN2A_HUMAN	G	472	ENSP00000406454:R472G;ENSP00000364586:R472G;ENSP00000349973:R472G;ENSP00000283256:R472G;ENSP00000364576:R472G	ENSP00000283256:R472G	R	+	1	2	SCN2A	165880257	0.998000	0.40836	0.988000	0.46212	0.900000	0.52787	3.900000	0.56295	2.251000	0.74343	0.528000	0.53228	AGA		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		22	35	0	0	0	1	0	22	35					G	166172011	A	G	166172011	3	3	141	1	0	0	0	0	1	0	0	0	13916	64	3	4	1548	4	SCN2A	2	166172011	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08	79895936	166172011	77027362	2	2492										
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ttgatccccataagcatgacGacctatgatgataggtttta	8	8	0	4	rs121913499		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"isocitrate dehydrogenase 1 (NADP+), soluble"			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81	74	76					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	50	0	0	0	1	0	22	50					A	209113113	G	A	209113113	3	1	141	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08	42941102	209113113	34086260	3	2493										
CC2D2A	57545	broad.mit.edu	37	chr4	15513007	15513007	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caagaggaggaggaaggggaAgaagaagaaccacctgcaca	15	7	0	4	rs112367037|rs386833764	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr4:15513007A>C	ENST00000503292.1	+	9	858	c.678A>C	c.(676-678)gaA>gaC	p.E226D	CC2D2A_ENST00000424120.1_Missense_Mutation_p.E226D|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E177D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E226D	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	226	Poly-Glu.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGAAGGGGAAGAAGAAGAAC	0.448																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(676-678)gaA>gaC		coiled-coil and C2 domain containing 2A							100	97	98					4																	15513007		1948	4125	6073	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15513007A>C	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.678A>C	4.37:g.15513007A>C	ENSP00000421809:p.Glu226Asp					CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E226D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E177D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E226D	p.E226D			Q9P2K1	C2D2A_HUMAN			8	932	+			226			Poly-Glu.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.678A>C	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	A	8.116	0.779773	0.16120	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.82	1.33	0.21861	.	0.180895	0.47455	D	0.000227	T	0.19208	0.0461	L	0.55481	1.735	0.80722	D	1	B;B;B	0.28933	0.001;0.228;0.087	B;B;B	0.25759	0.003;0.053;0.063	T	0.04593	-1.0940	10	0.39692	T	0.17	.	4.8686	0.13620	0.4382:0.1494:0.4123:0.0	.	226;177;226	Q9P2K1;Q9P2K1-2;C9JKY6	C2D2A_HUMAN;.;.	D	226;226;177;177;226;226;177	ENSP00000403465:E226D;ENSP00000398391:E226D;ENSP00000422875:E226D;ENSP00000421809:E226D;ENSP00000374303:E177D	ENSP00000374303:E177D	E	+	3	2	CC2D2A	15122105	1.000000	0.71417	0.634000	0.29324	0.053000	0.15095	0.489000	0.22387	-0.078000	0.12730	-0.248000	0.11899	GAA		0.448	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		9	8	0	0	0	1	0	9	8					C	15513007	A	C	15513007	3	2	141	1	0	0	0	0	1	0	0	0	2728	69	3	5	907	5	CC2D2A	4	15513007	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08		15513007	175641269	4	2494										
PAQR3	152559	broad.mit.edu	37	chr4	79860329	79860329	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccaggaccggccagtactggTagctgcccagctcgatgtaa	12	13	0	0			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr4:79860329T>C	ENST00000512733.1	-	1	263	c.50A>G	c.(49-51)tAc>tGc	p.Y17C	PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C|PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	17					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCAGTACTGGTAGCTGCCCAG	0.672																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(49-51)tAc>tGc		progestin and adipoQ receptor family member III							76	74	75					4																	79860329		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79860329T>C	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.50A>G	4.37:g.79860329T>C	ENSP00000421981:p.Tyr17Cys					PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C|PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C	p.Y17C	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN			1	263	-			17					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.50A>G	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270433	0.80469	.	.	ENSG00000163291	ENST00000295462;ENST00000512733;ENST00000380645	T;T	0.35048	1.8;1.33	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.52953	-0.8506	10	0.87932	D	0	-19.1189	13.6428	0.62263	0.0:0.0:0.0:1.0	.	17	Q6TCH7	PAQR3_HUMAN	C	17	ENSP00000421981:Y17C;ENSP00000370019:Y17C	ENSP00000295462:Y17C	Y	-	2	0	PAQR3	80079353	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.079000	0.76829	1.862000	0.54008	0.460000	0.39030	TAC		0.672	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		25	52	0	0	0	1	0	25	52					C	79860329	T	C	79860329	3	2	141	1	0	0	0	0	1	0	0	0	11436	1638	57	4	909	4	PAQR3	4	79860329	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08	64347322	79860329	111293947	5	2495										
NEDD9	4739	broad.mit.edu	37	chr6	11213930	11213930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcctcggcacactctgggaCattgtcatataaggcccttg	9	12	2	0			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:11213930C>T	ENST00000379446.5	-	2	209	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	15	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CACTCTGGGACATTGTCATAT	0.517																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(43-45)Gtc>Atc		neural precursor cell expressed, developmentally down-regulated 9							91	83	85					6																	11213930		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213930C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.43G>A	6.37:g.11213930C>T	ENSP00000368759:p.Val15Ile					NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA	p.V15I	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	209	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	15			SH3.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.43G>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594812	0.66219	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433;ENST00000513989;ENST00000397378	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;1.94	6.17	6.17	0.99709	Src homology-3 domain (4);	0.106561	0.64402	D	0.000004	T	0.51449	0.1675	L	0.37850	1.14	0.58432	D	0.999996	P;D;P	0.69078	0.539;0.997;0.747	B;D;P	0.79108	0.316;0.992;0.487	T	0.17623	-1.0363	10	0.18276	T	0.48	-37.8106	20.8794	0.99867	0.0:1.0:0.0:0.0	.	15;15;15	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	I	15;15;15;9;15	ENSP00000368759:V15I;ENSP00000422871:V15I;ENSP00000368745:V15I;ENSP00000421282:V9I;ENSP00000380534:V15I	ENSP00000368745:V15I	V	-	1	0	NEDD9	11321916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.435000	0.44811	2.941000	0.99782	0.655000	0.94253	GTC		0.517	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		20	40	0	0	0	1	0	20	40					T	11213930	C	T	11213930	3	4	141	1	0	0	0	0	1	0	0	0	10313	478	17	3	2555	3	NEDD9	6	11213930	Missense_Mutation	SNP	C	TCGA-W2-A7HH-01A-11D-A35I-08		11213930	159901137	6	2496										
VARS	7407	broad.mit.edu	37	chr6	31762953	31762953	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	gctatgagggctcggaggctGgggaaggcatctgggtgagg							TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:31762953delG	ENST00000375663.3	-	2	482	c.42delC	c.(40-42)cccfs	p.P14fs	LSM2_ENST00000491421.1_5'Flank|VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	14					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCGGAGGCTGGGGAAGGCAT	0.612																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(40-42)ccfs		valyl-tRNA synthetase	L-Valine(DB00161)						20	24	22					6																	31762953		1405	2430	3835	SO:0001589	frameshift_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31762953delG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.42delC	6.37:g.31762953delG	ENSP00000364815:p.Pro14fs					VARS_ENST00000444930.2_Intron	p.P14fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			2	482	-			14					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Del	DEL	ENST00000375663.3	37	c.42delC	CCDS34412.1																																																																																				0.612	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		2	4						2	4	---	---	---	---	-	31762953	G	-	31762953	7	5	141	1	0	1	0	1	0	0	0	0	17120	1335	47	0	3868	0	VARS	6	31762953	Frame_Shift_Del	DEL	G	TCGA-W2-A7HH-01A-11D-A35I-08	20549023	31762953	139352114	7	2497										
GSTA3	2940	broad.mit.edu	37	chr6	52762673	52762673	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggagtcaagctcttccacatAgtagagaagttccaccaggc	10	11	2	1			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:52762673A>T	ENST00000211122.3	-	6	561	c.496T>A	c.(496-498)Tat>Aat	p.Y166N	GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	166	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCTTCCACATAGTAGAGAAGT	0.512																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(496-498)Tat>Aat		glutathione S-transferase alpha 3	Glutathione(DB00143)						165	146	153					6																	52762673		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52762673A>T	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"Glutathione S-transferases / Soluble"	4628	protein-coding gene	gene with protein product		605449	"glutathione S-transferase A3"			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.496T>A	6.37:g.52762673A>T	ENSP00000211122:p.Tyr166Asn					GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N	p.Y166N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			6	561	-	Lung NSC(77;0.0912)		166			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.496T>A	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	A	2.549	-0.304552	0.05495	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.12361	4.52;4.52;2.69	3.91	-5.39	0.02664	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.484707	0.22830	N	0.055104	T	0.01765	0.0056	L	0.28192	0.835	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.39461	-0.9613	10	0.32370	T	0.25	.	2.4846	0.04595	0.1689:0.2022:0.0865:0.5424	.	166	Q16772	GSTA3_HUMAN	N	116;166;98	ENSP00000360007:Y116N;ENSP00000211122:Y166N;ENSP00000399142:Y98N	ENSP00000211122:Y166N	Y	-	1	0	GSTA3	52870632	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.191000	0.09601	-0.524000	0.06400	-1.142000	0.01873	TAT		0.512	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			5	88	0	0	0	1	0	5	88					T	52762673	A	T	52762673	3	4	141	1	0	0	0	0	1	0	0	0	6832	420	15	5	180	5	GSTA3	6	52762673	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08	20999720	52762673	118352394	8	2498										
EPHB4	2050	broad.mit.edu	37	chr7	100411306	100411306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gatactgtccgtgtttgtccGaatattctgcttctctccca	7	12	2	0	rs60537976		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr7:100411306G>A	ENST00000358173.3	-	10	2192	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	575					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S575L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGTTTGTCCGAATATTCTGC	0.493																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.S575L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1723-1725)tCg>tTg		EPH receptor B4							380	352	362					7																	100411306		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100411306G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1724C>T	7.37:g.100411306G>A	ENSP00000350896:p.Ser575Leu					EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L	p.S575L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			10	2192	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		575					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1724C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881491	0.51908	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.11712	2.75;2.75	5.5	5.5	0.81552	.	0.000000	0.47852	D	0.000220	T	0.08179	0.0204	L	0.42632	1.34	0.43637	D	0.996033	P;D	0.56035	0.93;0.974	B;B	0.34489	0.095;0.184	T	0.32348	-0.9910	10	0.23891	T	0.37	.	12.586	0.56419	0.0:0.1672:0.8328:0.0	rs60537976	575;575	Q96L35;P54760	.;EPHB4_HUMAN	L	575	ENSP00000353833:S575L;ENSP00000350896:S575L	ENSP00000350896:S575L	S	-	2	0	EPHB4	100249242	1.000000	0.71417	0.880000	0.34516	0.691000	0.40173	4.102000	0.57776	2.577000	0.86979	0.655000	0.94253	TCG		0.493	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		5	291	0	0	0	1	0	5	291					A	100411306	G	A	100411306	3	1	141	1	0	0	0	0	1	0	0	0	5177	1059	37	2	1271	2	EPHB4	7	100411306	Missense_Mutation	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08		100411306	58727357	9	2499										
RNLS	55328	broad.mit.edu	37	chr10	90122340	90122340	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcttattatcaatggagacGaagcgtatgcagggattact	10	6	2	1			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr10:90122340G>T	ENST00000331772.4	-	5	691	c.669C>A	c.(667-669)ttC>ttA	p.F223L	RNLS_ENST00000371947.3_Missense_Mutation_p.F223L|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.F140L	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	223					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATGGAGACGAAGCGTATGC	0.438																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(667-669)ttC>ttA		renalase, FAD-dependent amine oxidase							165	155	158					10																	90122340		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90122340G>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.669C>A	10.37:g.90122340G>T	ENSP00000332530:p.Phe223Leu					RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.F223L|RNLS_ENST00000437752.1_Missense_Mutation_p.F140L	p.F223L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	2008	-			223					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.669C>A	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493953	0.84962	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.92199	-2.99;0.76;-2.99	6.07	5.17	0.71159	Amine oxidase (1);	0.047974	0.85682	D	0.000000	D	0.95595	0.8568	M	0.78049	2.395	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.987;0.954	D	0.95124	0.8249	10	0.41790	T	0.15	.	14.2474	0.65997	0.0724:0.0:0.9276:0.0	.	140;223;223	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	L	223;140;223	ENSP00000361015:F223L;ENSP00000387577:F140L;ENSP00000332530:F223L	ENSP00000332530:F223L	F	-	3	2	RNLS	90112320	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.552000	0.67281	1.576000	0.49790	0.585000	0.79938	TTC		0.438	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		27	43	1	0	2.48779e-11	1	2.56805e-11	27	43					T	90122340	G	T	90122340	3	4	141	1	0	0	0	0	1	0	0	0	13505	1049	37	5	447	5	RNLS	10	90122340	Missense_Mutation	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08		90122340	45412407	10	2500										
OAS2	4939	broad.mit.edu	37	chr12	113442843	113442843	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctcccaaaaaaacgagcgGcacaaaatcgtcaaggaaat	7	11	1	0			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr12:113442843G>A	ENST00000342315.4	+	7	1498	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.R428R	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	428	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACGAGCGGCACAAAATCG	0.502																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1282-1284)cgG>cgA		2'-5'-oligoadenylate synthetase 2, 69/71kDa							85	79	81					12																	113442843		2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442843G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1284G>A	12.37:g.113442843G>A						RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.R428R	p.R428R	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			7	1491	+			428			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.1284G>A	CCDS31906.1																																																																																				0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			3	37	0	0	0	1	0	3	37					A	113442843	G	A	113442843	2	1	141	1	0	0	0	0	0	0	0	1	10800	1190	42	3		3	OAS2	12	113442843	Silent	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08		113442843	20409052	11	2501										
CTCF	10664	broad.mit.edu	37	chr16	67645506	67645506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cctccaaagccaacaaaaatTaaaaagaaaggtaaaacgag	6	8	0	1			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr16:67645506T>G	ENST00000264010.4	+	3	1215	c.771T>G	c.(769-771)atT>atG	p.I257M	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	257					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAACAAAAATTAAAAAGAAAG	0.373																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(769-771)atT>atG		CCCTC-binding factor (zinc finger protein)							51	56	54					16																	67645506		2188	4272	6460	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645506T>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.771T>G	16.37:g.67645506T>G	ENSP00000264010:p.Ile257Met					CTCF_ENST00000401394.1_Intron	p.I257M	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1215	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	257					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.771T>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844560	0.51164	.	.	ENSG00000102974	ENST00000264010	T	0.09073	3.02	5.4	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.10245	-1.0638	10	0.33141	T	0.24	.	11.6595	0.51339	0.0:0.0708:0.0:0.9292	.	257	P49711	CTCF_HUMAN	M	257	ENSP00000264010:I257M	ENSP00000264010:I257M	I	+	3	3	CTCF	66203007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.413000	0.34725	2.271000	0.75665	0.533000	0.62120	ATT		0.373	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		20	30	0	0	0	1	0	20	30					G	67645506	T	G	67645506	3	3	141	1	0	0	0	0	1	0	0	0	4000	1742	61	5	773	5	CTCF	16	67645506	Missense_Mutation	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08		67645506	22709247	12	2502										
FUT5	2527	broad.mit.edu	37	chr19	5867557	5867557	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgtcctggcagcgggacccAttgggagccccggtgacagg	16	13	0	1			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:5867557A>G	ENST00000588525.1	-	2	267	c.180T>C	c.(178-180)aaT>aaC	p.N60N	FUT5_ENST00000252675.5_Silent_p.N60N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	60					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCGGGACCCATTGGGAGCCC	0.632																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(178-180)aaT>aaC		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							37	37	37					19																	5867557		2203	4300	6503	SO:0001819	synonymous_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867557A>G		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.180T>C	19.37:g.5867557A>G						FUT5_ENST00000588525.1_Silent_p.N60N	p.N60N			Q11128	FUT5_HUMAN			5	742	-			60					A8K4X2	Silent	SNP	ENST00000588525.1	37	c.180T>C	CCDS12154.1																																																																																				0.632	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		12	24	0	0	0	1	0	12	24					G	5867557	A	G	5867557	2	3	141	1	0	0	0	0	0	0	0	1	6107	214	8	4		4	FUT5	19	5867557	Silent	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08		5867557	53261426	13	2503										
GMIP	51291	broad.mit.edu	37	chr19	19747568	19747568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gactcgctgccgccacccacGctgtccacatcgctgcccgg	10	20	0	0			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:19747568G>A	ENST00000203556.4	-	13	1412	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Silent_p.S425S|GMIP_ENST00000445806.2_Silent_p.S422S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	425					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGCCACCCACGCTGTCCACAT	0.637																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1273-1275)agC>agT		GEM interacting protein							60	63	62					19																	19747568		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19747568G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1275C>T	19.37:g.19747568G>A						GMIP_ENST00000445806.2_Silent_p.S422S|GMIP_ENST00000587238.1_Silent_p.S425S	p.S425S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			13	1412	-			425					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.1275C>T	CCDS12408.1																																																																																				0.637	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		20	35	0	0	0	1	0	20	35					A	19747568	G	A	19747568	2	1	141	1	0	0	0	0	0	0	0	1	6491	1078	38	1		1	GMIP	19	19747568	Silent	SNP	G	TCGA-W2-A7HH-01A-11D-A35I-08	13880011	19747568	39381415	14	2504										
TFAP2C	7022	broad.mit.edu	37	chr20	55206271	55206271	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttccctccaggatcgccacgAcgggagcagcaatgggaatc	12	13	0	0			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr20:55206271A>G	ENST00000201031.2	+	2	302	c.59A>G	c.(58-60)gAc>gGc	p.D20G	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	20					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GATCGCCACGACGGGAGCAGC	0.662																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(58-60)gAc>gGc		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							42	52	49					20																	55206271		2203	4298	6501	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206271A>G		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.59A>G	20.37:g.55206271A>G	ENSP00000201031:p.Asp20Gly					TFAP2C_ENST00000544508.1_5'UTR	p.D20G	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	302	+			20					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.59A>G	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252080	0.59212	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	D;D	0.81579	-1.51;-1.51	5.52	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.71036	2.16	0.80722	D	1	P	0.48294	0.908	B	0.41860	0.368	T	0.80190	-0.1485	10	0.87932	D	0	-11.9025	11.3453	0.49556	0.9287:0.0:0.0713:0.0	.	20	Q92754	AP2C_HUMAN	G	20;8	ENSP00000201031:D20G;ENSP00000390857:D8G	ENSP00000201031:D20G	D	+	2	0	TFAP2C	54639678	1.000000	0.71417	0.993000	0.49108	0.008000	0.06430	8.371000	0.90123	0.936000	0.37367	-0.379000	0.06801	GAC		0.662	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		12	45	0	0	0	1	0	12	45					G	55206271	A	G	55206271	3	3	141	1	0	0	0	0	1	0	0	0	15786	275	10	4	65	4	TFAP2C	20	55206271	Missense_Mutation	SNP	A	TCGA-W2-A7HH-01A-11D-A35I-08		55206271	7819249	15	2505										
RPGR	6103	broad.mit.edu	37	chrX	38146339	38146339	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccactgattttgccttgcctTcactcacctctgctttgtct	5	15	4	1			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chrX:38146339T>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Missense_Mutation_p.E638A|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGCCTTGCCTTCACTCACCTC	0.483																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1912-1914)gAa>gCa		retinitis pigmentosa GTPase regulator							317	229	259					X																	38146339		2202	4300	6502	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146339T>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"retinitis pigmentosa 15", "cone dystrophy 1 (X-linked)"	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+7A>C	X.37:g.38146339T>G						RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron	p.E638A	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			15	2089	-			629			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1913A>C		.	.	.	.	.	.	.	.	.	.	t	9.574	1.121785	0.20877	.	.	ENSG00000156313	ENST00000378505	T	0.39056	1.1	3.0	3.0	0.34707	.	2.361020	0.03516	U	0.220324	T	0.39545	0.1082	M	0.62723	1.935	0.80722	D	1	P	0.37330	0.59	B	0.27262	0.078	T	0.45614	-0.9249	10	0.66056	D	0.02	.	6.985	0.24723	0.0:0.0:0.2304:0.7696	.	638	E9PE28	.	A	638	ENSP00000367766:E638A	ENSP00000367766:E638A	E	-	2	0	RPGR	38031283	0.919000	0.31177	0.864000	0.33941	0.388000	0.30384	0.046000	0.14035	1.038000	0.40049	0.289000	0.19496	GAA		0.483	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		48	78	0	0	0	1	0	48	78					G	38146339	T	G	38146339	1	3	141	0	1	0	0	0	0	0	0	0	13548	1783	62	5		5	RPGR	23	38146339	Intron	SNP	T	TCGA-W2-A7HH-01A-11D-A35I-08		38146339	117124221	16	2506										
NCDN	23154	broad.mit.edu	37	chr1	36030915	36030915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	cgtggcgcgggccaccccggGctcagaccaggcagtgctag	16	15	1	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:36030915G>A	ENST00000373243.2	+	7	2224	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	NCDN_ENST00000356090.4_Missense_Mutation_p.G614D|NCDN_ENST00000373253.3_Missense_Mutation_p.G597D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	614					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCCCGGGCTCAGACCAG	0.637																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1840-1842)gGc>gAc		neurochondrin							90	93	92					1																	36030915		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36030915G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1841G>A	1.37:g.36030915G>A	ENSP00000362340:p.Gly614Asp					NCDN_ENST00000373253.3_Missense_Mutation_p.G597D|NCDN_ENST00000356090.4_Missense_Mutation_p.G614D	p.G614D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			7	2224	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	614					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1841G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675319	0.29783	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000397922	.	.	.	5.1	5.1	0.69264	.	0.057376	0.64402	D	0.000001	T	0.25419	0.0618	N	0.03115	-0.41	0.47778	D	0.999511	B	0.18610	0.029	B	0.18561	0.022	T	0.17471	-1.0368	9	0.07482	T	0.82	.	11.0573	0.47927	0.0849:0.0:0.9151:0.0	.	614	Q9UBB6	NCDN_HUMAN	D	597;614;614;39	.	ENSP00000348394:G614D	G	+	2	0	NCDN	35803502	0.979000	0.34478	0.999000	0.59377	0.938000	0.57974	2.573000	0.46007	2.387000	0.81309	0.563000	0.77884	GGC		0.637	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		6	73	0	0	0	1	0	6	73					A	36030915	G	A	36030915	3	1	142	1	0	0	0	0	1	0	0	0	10214	1203	42	3	1867	3	NCDN	1	36030915	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		36030915	213219706	1	2507										
CRNN	49860	broad.mit.edu	37	chr1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	tgaccctgcctgtatctgagTgtgtcctcctgtcacagcct	9	14	2	2			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234	198	210					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		4	234	0	0	0	1	0	4	234					C	152382519	T	C	152382519	3	2	142	1	0	0	0	0	1	0	0	0	3892	1696	59	4	452	4	CRNN	1	152382519	Missense_Mutation	SNP	T	TCGA-W2-A7UY-01A-11D-A35I-08	116351604	152382519	96868102	2	2508										
ATP8B2	57198	broad.mit.edu	37	chr1	154309900	154309900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ggagcacgaggtggggatgcGtttccaggtctacctgccgt	16	10	1	0			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:154309900G>T	ENST00000368489.3	+	12	1013	c.1013G>T	c.(1012-1014)cGt>cTt	p.R338L	ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L|ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	324					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R338H(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGGGGATGCGTTTCCAGGTC	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	1	Substitution - Missense(1)	p.R338H(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1012-1014)cGt>cTt		ATPase, aminophospholipid transporter, class I, type 8B, member 2							346	282	304					1																	154309900		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154309900G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1013G>T	1.37:g.154309900G>T	ENSP00000357475:p.Arg338Leu					ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L	p.R338L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1013	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		324					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1013G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812984	0.16537	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.88664	-2.41;-2.41;-2.41	5.17	3.28	0.37604	ATPase, P-type, ATPase-associated domain (1);	0.242107	0.36200	N	0.002730	T	0.68787	0.3039	L	0.31065	0.9	0.31737	N	0.636293	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.13407	0.005;0.004;0.009	T	0.58808	-0.7571	10	0.40728	T	0.16	.	8.2546	0.31748	0.247:0.0:0.753:0.0	.	324;338;305	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	L	305;338;324	ENSP00000357472:R305L;ENSP00000357475:R338L;ENSP00000340448:R324L	ENSP00000340448:R324L	R	+	2	0	ATP8B2	152576524	0.980000	0.34600	0.978000	0.43139	0.783000	0.44284	1.365000	0.34182	0.752000	0.32923	0.561000	0.74099	CGT		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		89	123	1	0	3.28864e-39	1	3.50788e-39	89	123					T	154309900	G	T	154309900	3	4	142	1	0	0	0	0	1	0	0	0	1195	1145	40	5	1059	5	ATP8B2	1	154309900	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	1927381	154309900	94940721	3	2509										
CFH	3075	broad.mit.edu	37	chr1	196645148	196645148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	gctaggtgagattaattaccGtgaatgtgacacagatggat	12	5	0	4	rs121913058		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:196645148G>A	ENST00000359637.2	+	4	442	c.380G>A	c.(379-381)cGt>cAt	p.R127H	CFH_ENST00000367429.4_Missense_Mutation_p.R127H|CFH_ENST00000439155.2_Missense_Mutation_p.R127H			P08603	CFAH_HUMAN	complement factor H	191	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> L (in CFHD; with membranoproliferative glomerulonephritis). {ECO:0000269|PubMed:14978182}.		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)			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						ATTAATTACCGTGAATGTGAC	0.308																																						ENST00000367429.4																			0				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	GRCh37	CM044589|CM087105	CFH	M	rs121913058	c.(379-381)cGt>cAt		complement factor H							195	181	186					1																	196645148		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196645148G>A	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.380G>A	1.37:g.196645148G>A	ENSP00000352658:p.Arg127His					CFH_ENST00000439155.2_Missense_Mutation_p.R127H|CFH_ENST00000359637.2_Missense_Mutation_p.R127H	p.R127H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			4	620	+			127		R -> L (in CFH deficiency; with membranoproliferative glomerulonephritis).	Sushi 2.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.380G>A		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146245	0.57044	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.65549	-0.16;-0.16;-0.16	5.5	5.5	0.81552	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.83505	0.5269	H	0.96805	3.885	0.35188	D	0.773088	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.993;0.998	D	0.86561	0.1841	9	0.07482	T	0.82	.	14.9068	0.70727	0.0:0.0:1.0:0.0	.	127;127;127;127	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	127	ENSP00000356399:R127H;ENSP00000402656:R127H;ENSP00000352658:R127H	ENSP00000352658:R127H	R	+	2	0	CFH	194911771	1.000000	0.71417	0.799000	0.32177	0.908000	0.53690	6.152000	0.71812	2.585000	0.87301	0.462000	0.41574	CGT		0.308	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		38	53	0	0	0	1	0	38	53					A	196645148	G	A	196645148	3	1	142	1	0	0	0	0	1	0	0	0	3283	1145	40	1	394	1	CFH	1	196645148	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	42335248	196645148	52605473	4	2510										
OR5H6	79295	broad.mit.edu	37	chr3	97983244	97983244	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	atttttacatcaacctgactGtaaaataccgctcttcctgg	5	11	2	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr3:97983244G>C	ENST00000383696.2	+	1	157	c.116G>C	c.(115-117)tGt>tCt	p.C39S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C39Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAACCTGACTGTAAAATACCG	0.413																																						ENST00000383696.2																			1	Substitution - Missense(1)	p.C39Y(1)	large_intestine(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(115-117)tGt>tCt		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							190	195	193					3																	97983244		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983244G>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.116G>C	3.37:g.97983244G>C	ENSP00000373196:p.Cys39Ser					RP11-325B23.2_ENST00000508616.1_lincRNA	p.C39S	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	157	+			39					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.116G>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	6.812	0.518864	0.13005	.	.	ENSG00000230301	ENST00000383696	T	0.01323	5.01	2.19	-0.213	0.13165	.	0.622484	0.13047	N	0.418024	T	0.00580	0.0019	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.19946	0.027	T	0.47736	-0.9094	10	0.87932	D	0	.	7.0675	0.25159	0.0:0.0:0.359:0.6409	.	39	Q8NGV6	OR5H6_HUMAN	S	39	ENSP00000373196:C39S	ENSP00000373196:C39S	C	+	2	0	OR5H6	99465934	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.634000	0.24614	0.233000	0.21120	0.194000	0.17425	TGT		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			6	135	0	0	0	1	0	6	135					C	97983244	G	C	97983244	3	2	142	1	0	0	0	0	1	0	0	0	11163	1377	48	5	118	5	OR5H6	3	97983244	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		97983244	100039186	5	2511										
HS3ST1	9957	broad.mit.edu	37	chr4	11401091	11401091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ccacattgagcctgccatcgCgcaccaggaactcctcgatg	9	16	0	1	rs376079538		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr4:11401091C>T	ENST00000002596.5	-	2	1713	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	180					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCTGCCATCGCGCACCAGGAA	0.592																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(538-540)cGc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	76	79		539	4.5	1	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	HS3ST1	NM_005114.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	180/308	11401091	2,13004	2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401091C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.539G>A	4.37:g.11401091C>T	ENSP00000002596:p.Arg180His						p.R180H	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1713	-			180					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.539G>A	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688388	0.48097	2.27E-4	1.16E-4	ENSG00000002587	ENST00000002596	D	0.82167	-1.58	5.61	4.54	0.55810	Sulfotransferase domain (1);	0.304563	0.25645	N	0.029247	T	0.72930	0.3522	L	0.46819	1.47	0.39509	D	0.968339	B	0.27264	0.173	B	0.17433	0.018	T	0.71731	-0.4504	10	0.51188	T	0.08	.	4.6962	0.12804	0.0:0.7316:0.0:0.2684	.	180	O14792	HS3S1_HUMAN	H	180	ENSP00000002596:R180H	ENSP00000002596:R180H	R	-	2	0	HS3ST1	11010189	1.000000	0.71417	0.976000	0.42696	0.917000	0.54804	4.173000	0.58249	2.793000	0.96121	0.655000	0.94253	CGC		0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		40	53	0	0	0	1	0	40	53					T	11401091	C	T	11401091	3	4	142	1	0	0	0	0	1	0	0	0	7363	768	27	1	388	1	HS3ST1	4	11401091	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		11401091	179753185	6	2512										
PAIP1	10605	broad.mit.edu	37	chr5	43535001	43535001	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	gtgttgcttctctatatgttGaagttgcatggactctgccc	10	9	2	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:43535001G>A	ENST00000306846.3	-	8	1383	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	PAIP1_ENST00000436644.2_Missense_Mutation_p.S305L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L|PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	384					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCTATATGTTGAAGTTGCATG	0.368																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1150-1152)tCa>tTa		poly(A) binding protein interacting protein 1							104	99	101					5																	43535001		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43535001G>A	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1151C>T	5.37:g.43535001G>A	ENSP00000302768:p.Ser384Leu					PAIP1_ENST00000436644.2_Missense_Mutation_p.S305L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L|PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L	p.S384L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			8	1383	-	Lung NSC(6;2.07e-05)		384					A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1151C>T	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263771	0.59431	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514	T;T;T;T	0.34275	1.37;1.39;1.4;1.41	5.61	4.73	0.59995	.	0.203569	0.42294	D	0.000739	T	0.32194	0.0821	L	0.43152	1.355	0.49915	D	0.99983	B;B;B	0.22003	0.047;0.063;0.058	B;B;B	0.25291	0.016;0.039;0.059	T	0.08207	-1.0733	10	0.41790	T	0.15	-7.6025	12.9222	0.58239	0.0782:0.0:0.9218:0.0	.	305;384;305	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	L	384;305;272;305	ENSP00000302768:S384L;ENSP00000387729:S305L;ENSP00000339622:S272L;ENSP00000425084:S305L	ENSP00000302768:S384L	S	-	2	0	PAIP1	43570758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.084000	0.76866	2.646000	0.89796	0.585000	0.79938	TCA		0.368	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		6	51	0	0	0	1	0	6	51					A	43535001	G	A	43535001	3	1	142	1	0	0	0	0	1	0	0	0	11396	1294	45	3	304	3	PAIP1	5	43535001	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		43535001	137380259	7	2513										
RAD50	10111	broad.mit.edu	37	chr5	131931305	131931305	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	gcagtttactcccagttcatTactcagctaacagacgaaaa	6	11	2	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:131931305T>A	ENST00000265335.6	+	13	2397	c.2010T>A	c.(2008-2010)atT>atA	p.I670I	RAD50_ENST00000378823.3_Silent_p.I531I			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	670	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTCATTACTCAGCTAA	0.388								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1591-1593)atT>atA	Homologous recombination	RAD50 homolog (S. cerevisiae)							82	72	76					5																	131931305		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131931305T>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2010T>A	5.37:g.131931305T>A						RAD50_ENST00000265335.6_Silent_p.I670I	p.I531I	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2411	+		all_cancers(142;0.0368)|Breast(839;0.198)	670					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.1593T>A	CCDS34233.1																																																																																				0.388	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		51	77	0	0	0	1	0	51	77					A	131931305	T	A	131931305	2	1	142	1	0	0	0	0	0	0	0	1	12984	1742	61	5		5	RAD50	5	131931305	Silent	SNP	T	TCGA-W2-A7UY-01A-11D-A35I-08	88396304	131931305	48983955	8	2514										
ARAP3	64411	broad.mit.edu	37	chr5	141053009	141053009	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	cagactcctcccattgaactGcacaaagcgtctctggaaga	8	13	1	3			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:141053009G>A	ENST00000239440.4	-	6	996	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ARAP3_ENST00000513878.1_5'Flank|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q233*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	311	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCATTGAACTGCACAAAGCGT	0.547																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(931-933)Cag>Tag		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							105	101	102					5																	141053009		2203	4300	6503	SO:0001587	stop_gained	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141053009G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.931C>T	5.37:g.141053009G>A	ENSP00000239440:p.Gln311*					ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q233*	p.Q311*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			6	996	-			311			PH 1.		B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	c.931C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	39	7.359481	0.98235	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	.	.	.	5.21	4.25	0.50352	.	0.377447	0.25636	N	0.029302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1293	0.42669	0.0:0.0:0.6064:0.3936	.	.	.	.	X	230;233;311;311	.	ENSP00000239440:Q311X	Q	-	1	0	ARAP3	141033193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.755000	0.62198	2.417000	0.82017	0.557000	0.71058	CAG		0.547	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		24	43	0	0	0	1	0	24	43					A	141053009	G	A	141053009	4	1	142	1	0	0	0	0	0	1	0	0	840	1328	46	3	3815	3	ARAP3	5	141053009	Nonsense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	9121704	141053009	39862251	9	2515										
LSM11	134353	broad.mit.edu	37	chr5	157182115	157182115	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	acggacagacggctccagtgTgggaggtaccttttccaggg	15	10	0	1	rs369707196		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:157182115T>A	ENST00000286307.5	+	4	982	c.926T>A	c.(925-927)gTg>gAg	p.V309E		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	309					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTCCAGTGTGGGAGGTACC	0.572																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(925-927)gTg>gAg		LSM11, U7 small nuclear RNA associated							68	67	67					5																	157182115		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157182115T>A	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.926T>A	5.37:g.157182115T>A	ENSP00000286307:p.Val309Glu						p.V309E	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	982	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	309					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.926T>A	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304612	0.40795	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.52	1.32	0.21799	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.658399	0.15391	N	0.264808	T	0.16727	0.0402	N	0.08118	0	0.26051	N	0.98149	B	0.13145	0.007	B	0.12837	0.008	T	0.15896	-1.0421	9	0.56958	D	0.05	0.0077	4.8633	0.13594	0.0:0.5548:0.1833:0.2619	.	309	P83369	LSM11_HUMAN	E	309	.	ENSP00000286307:V309E	V	+	2	0	LSM11	157114693	0.024000	0.19004	0.790000	0.31976	0.963000	0.63663	-0.061000	0.11693	-0.054000	0.13266	0.533000	0.62120	GTG		0.572	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		38	50	0	0	0	1	0	38	50					A	157182115	T	A	157182115	3	1	142	1	0	0	0	0	1	0	0	0	9052	1696	59	5	940	5	LSM11	5	157182115	Missense_Mutation	SNP	T	TCGA-W2-A7UY-01A-11D-A35I-08	16129106	157182115	23733145	10	2516										
EDN1	1906	broad.mit.edu	37	chr6	12290895	12290895	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ctcatgattttctctctgctGtttgtggcttgccaaggagc	10	10	3	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr6:12290895G>T	ENST00000379375.5	+	1	300	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	11					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TCTCTCTGCTGTTTGTGGCTT	0.418											OREG0017197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(31-33)ctG>ctT		endothelin 1							109	100	103					6																	12290895		2203	4300	6503	SO:0001819	synonymous_variant	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12290895G>T	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"Endogenous ligands"	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.33G>T	6.37:g.12290895G>T			OREG0017197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	678		p.L11L	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			1	300	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	11					Q96DA1	Silent	SNP	ENST00000379375.5	37	c.33G>T	CCDS4522.1																																																																																				0.418	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		3	45	1	0	0.115264	1	0.115264	3	45					T	12290895	G	T	12290895	2	4	142	1	0	0	0	0	0	0	0	1	4916	1364	48	5		5	EDN1	6	12290895	Silent	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		12290895	158824172	11	2517										
GPR126	57211	broad.mit.edu	37	chr6	142764556	142764556	+	3'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	atcatccctgtccatcaggtCattgataaggtcaagggtta	9	9	4	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr6:142764556C>T	ENST00000230173.6	+	0	4179				GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V|GPR126_ENST00000367609.3_Silent_p.V1219V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCCATCAGGTCATTGATAAGG	0.403																																						ENST00000367609.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3655-3657)gtC>gtT		G protein-coupled receptor 126							184	174	177					6																	142764556		1939	4154	6093	SO:0001624	3_prime_UTR_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142764556C>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.*37C>T	6.37:g.142764556C>T						GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V|GPR126_ENST00000296932.8_3'UTR	p.V1219V	NM_198569.2	NP_940971.1	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	25	4058	+	Breast(32;0.176)		0					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.3657C>T	CCDS47490.1																																																																																				0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	86	0	0	0	1	0	8	86					T	142764556	C	T	142764556	1	4	142	0	1	0	0	0	0	0	0	0	6640	813	29	3		3	GPR126	6	142764556	3'UTR	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08	130473661	142764556	28350511	12	2518										
SHB	6461	broad.mit.edu	37	chr9	37974712	37974712	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ctggggcagcttgctctcccGcagtcgggggctgactgtgc	16	13	1	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr9:37974712G>A	ENST00000377707.3	-	3	1526	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	321	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGCTCTCCCGCAGTCGGGGG	0.597																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(961-963)Cgg>Tgg		Src homology 2 domain containing adaptor protein B							73	82	79					9																	37974712		2057	4184	6241	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37974712G>A		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.961C>T	9.37:g.37974712G>A	ENSP00000366936:p.Arg321Trp					RP11-613M10.9_ENST00000540557.1_3'UTR	p.R321W	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	3	1526	-		all_epithelial(88;0.122)	321			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.961C>T	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726818	0.69074	.	.	ENSG00000107338	ENST00000377707	T	0.31510	1.49	5.55	3.64	0.41730	.	0.000000	0.52532	D	0.000076	T	0.49966	0.1588	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.50145	-0.8862	10	0.87932	D	0	-17.2451	12.8611	0.57913	0.0:0.0:0.7393:0.2607	.	321	Q15464	SHB_HUMAN	W	321	ENSP00000366936:R321W	ENSP00000366936:R321W	R	-	1	2	SHB	37964712	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	5.003000	0.63959	0.648000	0.30732	0.563000	0.77884	CGG		0.597	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			46	71	0	0	0	1	0	46	71					A	37974712	G	A	37974712	3	1	142	1	0	0	0	0	1	0	0	0	14268	1086	38	1	584	1	SHB	9	37974712	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		37974712	103238719	13	2519										
CHST15	51363	broad.mit.edu	37	chr10	125769796	125769796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	caggttccggtcctcgggacGccgtgcattggatgcggggc	17	12	0	0			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr10:125769796G>A	ENST00000346248.5	-	8	2197	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	CHST15_ENST00000435907.1_Missense_Mutation_p.R519C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	519					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCTCGGGACGCCGTGCATTG	0.587																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1555-1557)Cgt>Tgt		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							36	39	38					10																	125769796		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125769796G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1555C>T	10.37:g.125769796G>A	ENSP00000333947:p.Arg519Cys					CHST15_ENST00000435907.1_Missense_Mutation_p.R519C	p.R519C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			8	2197	-			519					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1555C>T	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704970	0.68615	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	T;T	0.56611	0.45;0.45	5.38	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72629	-0.4235	10	0.87932	D	0	-20.7884	14.2633	0.66099	0.0:0.0:0.6484:0.3516	.	519	Q7LFX5	CHSTF_HUMAN	C	519	ENSP00000333947:R519C;ENSP00000402394:R519C	ENSP00000333947:R519C	R	-	1	0	CHST15	125759786	1.000000	0.71417	0.956000	0.39512	0.931000	0.56810	1.347000	0.33975	1.240000	0.43803	0.558000	0.71614	CGT		0.587	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		15	14	0	0	0	1	0	15	14					A	125769796	G	A	125769796	3	1	142	1	0	0	0	0	1	0	0	0	3403	1087	38	1	134	1	CHST15	10	125769796	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		125769796	9764951	14	2520										
MRPL16	54948	broad.mit.edu	37	chr11	59575194	59575194	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	caagattgcaaaattgccttCtgtaaactccgtagcttcag	7	10	2	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:59575194C>T	ENST00000300151.4	-	3	463	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	84					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AAATTGCCTTCTGTAAACTCC	0.398																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(250-252)Gaa>Aaa		mitochondrial ribosomal protein L16							270	283	279					11																	59575194		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59575194C>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.250G>A	11.37:g.59575194C>T	ENSP00000300151:p.Glu84Lys						p.E84K	NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN			3	463	-			84					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.250G>A	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393319	0.62066	.	.	ENSG00000166902	ENST00000300151	T	0.22539	1.95	5.93	5.93	0.95920	Ribosomal protein L10e/L16 (2);	0.301944	0.40728	N	0.001025	T	0.15565	0.0375	N	0.16066	0.365	0.42936	D	0.994332	B	0.22146	0.065	B	0.24974	0.057	T	0.06481	-1.0824	10	0.44086	T	0.13	-21.127	15.8312	0.78752	0.0:1.0:0.0:0.0	.	84	Q9NX20	RM16_HUMAN	K	84	ENSP00000300151:E84K	ENSP00000300151:E84K	E	-	1	0	MRPL16	59331770	0.955000	0.32602	1.000000	0.80357	0.988000	0.76386	0.516000	0.22817	2.803000	0.96430	0.650000	0.86243	GAA		0.398	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		4	214	0	0	0	1	0	4	214					T	59575194	C	T	59575194	3	4	142	1	0	0	0	0	1	0	0	0	9781	922	32	3	513	3	MRPL16	11	59575194	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		59575194	75431322	15	2521										
GPR44	11251	broad.mit.edu	37	chr11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-													0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	gagcgggcggtggaggaggtGcggcggcggcggctgcttcc							TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		3	6						3	6	---	---	---	---	-	60620169	GCG	-	60620167	7	5	142	1	0	1	0	1	0	0	0	0	6695	1306	46	0	162	0	GPR44	11	60620167	In_Frame_Del	DEL	GCG	TCGA-W2-A7UY-01A-11D-A35I-08	1044973	60620167	74386349	16	2522										
TXNRD1	7296	broad.mit.edu	37	chr12	104713352	104713352	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	atccctggtgacaaagaataCtgcatcagcaggtaaaggaa	10	8	1	2			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr12:104713352C>T	ENST00000529546.1	+	6	639	c.414C>T	c.(412-414)taC>taT	p.Y138Y	TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y|TXNRD1_ENST00000526691.1_Silent_p.Y228Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000526950.1_Silent_p.Y245Y			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	326	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ACAAAGAATACTGCATCAGCA	0.398																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(682-684)taC>taT		thioredoxin reductase 1							28	27	27					12																	104713352		1836	4085	5921	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104713352C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.414C>T	12.37:g.104713352C>T						TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000529546.1_Silent_p.Y138Y|TXNRD1_ENST00000526950.1_Silent_p.Y245Y	p.Y228Y	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			7	1140	+			326					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.684C>T	CCDS58274.1																																																																																				0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		3	9	0	0	0	1	0	3	9					T	104713352	C	T	104713352	2	4	142	1	0	0	0	0	0	0	0	1	16804	576	20	3		3	TXNRD1	12	104713352	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		104713352	29138543	17	2523										
CCDC60	160777	broad.mit.edu	37	chr12	119942926	119942926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	caccaaccgcaaaccaagccGgcgaggctccacactcagtc	8	18	1	0	rs146647643	byFrequency	TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr12:119942926G>A	ENST00000327554.2	+	7	1166	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	234								p.R234Q(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAACCAAGCCGGCGAGGCTCC	0.547													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		19130	0		0	False		,,,				2504	0					ENST00000327554.2																			1	Substitution - Missense(1)	p.R234Q(1)	skin(1)	endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(700-702)cGg>cAg		coiled-coil domain containing 60		G	GLN/ARG	6,4400	9.9+/-24.2	0,6,2197	73	80	77		701	4.2	1	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC60	NM_178499.3	43	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging	234/551	119942926	7,12999	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119942926G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.701G>A	12.37:g.119942926G>A	ENSP00000333374:p.Arg234Gln					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R234Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1166	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234						Missense_Mutation	SNP	ENST00000327554.2	37	c.701G>A	CCDS9190.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	15.25	2.778157	0.49786	0.001362	1.16E-4	ENSG00000183273	ENST00000327554	T	0.25085	1.82	5.07	4.19	0.49359	.	0.537306	0.15293	N	0.270062	T	0.43166	0.1235	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	P	0.61477	0.889	T	0.18085	-1.0348	9	.	.	.	-15.2958	9.4802	0.38895	0.0977:0.0:0.9023:0.0	.	234	Q8IWA6	CCD60_HUMAN	Q	234	ENSP00000333374:R234Q	.	R	+	2	0	CCDC60	118427309	0.999000	0.42202	0.969000	0.41365	0.013000	0.08279	4.489000	0.60309	1.128000	0.42052	-0.142000	0.14014	CGG		0.547	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		57	107	0	0	0	1	0	57	107					A	119942926	G	A	119942926	3	1	142	1	0	0	0	0	1	0	0	0	2831	1116	39	2	727	2	CCDC60	12	119942926	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	15229574	119942926	13908969	18	2524										
MTUS2	23281	broad.mit.edu	37	chr13	29855976	29855976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ccgcaggagtttacttccagCgccaaaatccacttccacac	6	16	0	0			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr13:29855976C>T	ENST00000431530.3	+	4	2868	c.2810C>T	c.(2809-2811)gCg>gTg	p.A937V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	927	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTACTTCCAGCGCCAAAATCC	0.557																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2809-2811)gCg>gTg		microtubule associated tumor suppressor candidate 2							54	55	55					13																	29855976		1858	4104	5962	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855976C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2810C>T	13.37:g.29855976C>T	ENSP00000392057:p.Ala937Val						p.A937V	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			4	2868	+			927			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2810C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325924	0.81580	.	.	ENSG00000132938	ENST00000431530	T	0.16597	2.33	4.72	4.72	0.59763	.	0.087739	0.45867	D	0.000334	T	0.36496	0.0969	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01909	-1.1249	9	.	.	.	.	17.2062	0.86918	0.0:1.0:0.0:0.0	.	927	Q5JR59	MTUS2_HUMAN	V	937	ENSP00000392057:A937V	.	A	+	2	0	MTUS2	28753976	0.995000	0.38212	0.456000	0.27044	0.986000	0.74619	4.572000	0.60886	2.610000	0.88304	0.655000	0.94253	GCG		0.557	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	105	0	0	0	1	0	8	105					T	29855976	C	T	29855976	3	4	142	1	0	0	0	0	1	0	0	0	9966	768	27	1	2824	1	MTUS2	13	29855976	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		29855976	85313902	19	2525										
PCID2	55795	broad.mit.edu	37	chr13	113834493	113834493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	tcacagctctggttacttccGcaaactgcatcaggtgatac	8	12	3	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr13:113834493G>A	ENST00000337344.4	-	11	915	c.839C>T	c.(838-840)gCg>gTg	p.A280V	PCID2_ENST00000375457.2_Missense_Mutation_p.A278V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375477.1_Missense_Mutation_p.A280V|PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000493650.1_5'UTR	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	280	PCI.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.A334V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGTTACTTCCGCAAACTGCAT	0.433																																						ENST00000375457.2																			1	Substitution - Missense(1)	p.A334V(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(832-834)gCg>gTg		PCI domain containing 2							136	130	132					13																	113834493		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113834493G>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.839C>T	13.37:g.113834493G>A	ENSP00000337405:p.Ala280Val					PCID2_ENST00000375477.1_Missense_Mutation_p.A280V|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000351317.3_Missense_Mutation_p.A257V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000337344.4_Missense_Mutation_p.A280V	p.A278V	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		11	1429	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	280			PCI.		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.833C>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210880	0.39102	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	PCI/PINT associated module (1);Proteasome component (PCI) domain (1);	0.252743	0.39083	N	0.001474	T	0.21674	0.0522	L	0.33485	1.01	0.80722	D	1	P;B	0.39131	0.661;0.092	B;B	0.25759	0.063;0.044	T	0.05419	-1.0886	10	0.15952	T	0.53	-4.5929	19.9732	0.97292	0.0:0.0:1.0:0.0	.	334;280	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	V	280;280;280;334;278;278;257;280;257	ENSP00000337405:A280V;ENSP00000364628:A280V;ENSP00000364626:A280V;ENSP00000246505:A334V;ENSP00000364608:A278V;ENSP00000364606:A278V;ENSP00000327335:A257V	ENSP00000246505:A334V	A	-	2	0	PCID2	112882494	1.000000	0.71417	0.911000	0.35937	0.146000	0.21551	9.375000	0.97178	2.725000	0.93324	0.655000	0.94253	GCG		0.433	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		4	93	0	0	0	1	0	4	93					A	113834493	G	A	113834493	3	1	142	1	0	0	0	0	1	0	0	0	11579	1087	38	1	376	1	PCID2	13	113834493	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	83978517	113834493	1335385	20	2526										
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	cctccccgacaggtgtcgctCtgctgctgctgctcctcctc					rs370141395		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		7	354						7	354	---	---	---	---	-	69328210	CTG	-	69328208	7	5	142	1	0	1	0	1	0	0	0	0	10559	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-W2-A7UY-01A-11D-A35I-08		69328208	33203184	21	2527										
GP2	2813	broad.mit.edu	37	chr16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ctctgatgatgaaatcattgAccaaggagagggtgtttttg	12	5	2	5			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:20331047A>G	ENST00000381362.4	-	7	987	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_ENST00000302555.5_Missense_Mutation_p.V301A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(901-903)gTc>gCc		glycoprotein 2 (zymogen granule membrane)							449	418	429					16																	20331047		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331047A>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.911T>C	16.37:g.20331047A>G	ENSP00000370767:p.Val304Ala					GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	p.V301A			P55259	GP2_HUMAN			6	1051	-			304			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.902T>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	GP2	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC		0.423	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		69	113	0	0	0	1	0	69	113					G	20331047	A	G	20331047	3	3	142	1	0	0	0	0	1	0	0	0	6582	275	10	4	726	4	GP2	16	20331047	Missense_Mutation	SNP	A	TCGA-W2-A7UY-01A-11D-A35I-08		20331047	70023706	22	2528										
CDYL2	124359	broad.mit.edu	37	chr16	80667072	80667072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	tcaaagacgtagtccttctcCgcttccagcttcctcttcac	5	16	4	1	rs531982053		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:80667072C>T	ENST00000570137.2	-	3	833	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CDYL2_ENST00000563890.1_Silent_p.A227A|CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000566173.1_Silent_p.A227A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	226						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A226A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGTCCTTCTCCGCTTCCAGCT	0.488													C|||	1	0.000199681	0	0	5008	,	,		22373	0		0	False		,,,				2504	0.001					ENST00000299564.8																			1	Substitution - coding silent(1)	p.A226A(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(676-678)gcG>gcA		chromodomain protein, Y-like 2							160	139	146					16																	80667072		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80667072C>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.678G>A	16.37:g.80667072C>T						CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000566173.1_Silent_p.A227A|CDYL2_ENST00000563890.1_Silent_p.A227A	p.A226A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			3	833	-			226					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.678G>A	CCDS32493.1																																																																																				0.488	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		46	87	0	0	0	1	0	46	87					T	80667072	C	T	80667072	2	4	142	1	0	0	0	0	0	0	0	1	3186	639	23	2		2	CDYL2	16	80667072	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08	60336025	80667072	9687681	23	2529										
SLC46A1	113235	broad.mit.edu	37	chr17	26732355	26732355	+	Frame_Shift_Del	DEL	G	G	-													0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	tggagcagcaggcccagcgaGgccagcactagcagcgggcg							TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr17:26732355delG	ENST00000440501.1	-	2	455	c.360delC	c.(358-360)gccfs	p.A120fs	SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.A120fs|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	120					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GGCCCAGCGAGGCCAGCACTA	0.652																																						ENST00000440501.1																			0				lung(5)	5						c.(358-360)gcfs		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						14	19	17					17																	26732355		2096	4219	6315	SO:0001589	frameshift_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26732355delG	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.360delC	17.37:g.26732355delG	ENSP00000395653:p.Ala120fs					CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.A120fs|SLC46A1_ENST00000584729.1_5'UTR	p.A120fs	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	455	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		120					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Frame_Shift_Del	DEL	ENST00000440501.1	37	c.360delC																																																																																					0.652	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		2	4						2	4	---	---	---	---	-	26732355	G	-	26732355	7	5	142	1	0	1	0	1	0	0	0	0	14644	987	35	0	1036	0	SLC46A1	17	26732355	Frame_Shift_Del	DEL	G	TCGA-W2-A7UY-01A-11D-A35I-08		26732355	54462855	24	2530										
CSH2	1443	broad.mit.edu	37	chr17	61950686	61950686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	agggcaaaagccaggagcagGgacgtccgggagcctgggga	19	9	0	0			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr17:61950686G>A	ENST00000392886.2	-	2	175	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S|CSH2_ENST00000336844.5_Silent_p.S8S	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	8						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGGAGCAGGGACGTCCGGG	0.607																																						ENST00000336844.5																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(22-24)tcC>tcT		chorionic somatomammotropin hormone 2							16	17	17					17																	61950686		2200	4293	6493	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950686G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.24C>T	17.37:g.61950686G>A						CSH2_ENST00000392886.2_Silent_p.S8S|CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S	p.S8S	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN			2	175	-			8					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.24C>T	CCDS42369.1																																																																																				0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		15	67	0	0	0	1	0	15	67					A	61950686	G	A	61950686	2	1	142	1	0	0	0	0	0	0	0	1	3941	1219	43	3		3	CSH2	17	61950686	Silent	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	35218331	61950686	19244524	25	2531										
ZNF799	90576	broad.mit.edu	37	chr19	12501827	12501827	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	ttgttttgtgattttgaaagGaatagaaatcaataaaggct	9	2	1	3			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:12501827G>T	ENST00000430385.3	-	4	1585	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S430Y	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATTTTGAAAGGAATAGAAATC	0.388																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1288-1290)tCc>tAc		zinc finger protein 799							70	75	73					19																	12501827		2201	4299	6500	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501827G>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1385C>A	19.37:g.12501827G>T	ENSP00000411084:p.Ser462Tyr					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S462Y	p.S430Y			Q96GE5	ZN799_HUMAN			4	2038	-			462						Missense_Mutation	SNP	ENST00000430385.3	37	c.1289C>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727500	0.15439	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.16073	2.37;2.37	1.31	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20536	0.0494	L	0.41236	1.265	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.11251	-1.0595	9	0.06891	T	0.86	.	5.3321	0.15938	0.0:0.381:0.4174:0.2016	.	462	Q96GE5	ZN799_HUMAN	Y	430;462	ENSP00000415278:S430Y;ENSP00000411084:S462Y	ENSP00000415278:S430Y	S	-	2	0	ZNF799	12362827	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-5.448000	0.00121	-1.071000	0.03145	0.430000	0.28490	TCC		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		6	125	1	0	3.59834e-05	1	3.6749e-05	6	125					T	12501827	G	T	12501827	3	4	142	1	0	0	0	0	1	0	0	0	18163	1174	41	5	550	5	ZNF799	19	12501827	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08		12501827	46627156	26	2532										
TNPO2	30000	broad.mit.edu	37	chr19	12830080	12830080	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	gagcagagggcgtaccttctGacttgagtctggtcaggacg	15	9	3	3			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:12830080G>A	ENST00000592287.1	-	3	278	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TNPO2_ENST00000450764.2_Missense_Mutation_p.S57L|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000425528.1_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L|TNPO2_ENST00000589956.1_5'UTR	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	57	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTACCTTCTGACTTGAGTCT	0.542																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(169-171)tCa>tTa		transportin 2							166	180	175					19																	12830080		1984	4160	6144	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12830080G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.170C>T	19.37:g.12830080G>A	ENSP00000468434:p.Ser57Leu					TNPO2_ENST00000592287.1_Missense_Mutation_p.S57L|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.S57L|TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L	p.S57L			O14787	TNPO2_HUMAN			4	527	-			57			Importin N-terminal.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.170C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296601	0.81025	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (2);	0.126084	0.56097	D	0.000038	T	0.72179	0.3428	M	0.81497	2.545	0.58432	D	0.999998	P;P	0.39022	0.655;0.64	B;B	0.33960	0.142;0.173	T	0.78316	-0.2251	10	0.66056	D	0.02	-21.6946	17.7517	0.88436	0.0:0.0:1.0:0.0	.	221;57	Q4LE60;O14787	.;TNPO2_HUMAN	L	221;57;57;57;57;57;57	ENSP00000407182:S57L;ENSP00000389648:S57L;ENSP00000397379:S57L;ENSP00000349321:S57L	ENSP00000349321:S57L	S	-	2	0	TNPO2	12691080	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	8.964000	0.93389	2.564000	0.86499	0.650000	0.86243	TCA		0.542	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		13	30	0	0	0	1	0	13	30					A	12830080	G	A	12830080	3	1	142	1	0	0	0	0	1	0	0	0	16333	1294	45	3	2611	3	TNPO2	19	12830080	Missense_Mutation	SNP	G	TCGA-W2-A7UY-01A-11D-A35I-08	328253	12830080	46298903	27	2533										
HAPLN4	404037	broad.mit.edu	37	chr19	19371680	19371680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	agctcattggtgacttcgcaCtcatagcgcccgtagtcttg	10	12	3	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:19371680C>A	ENST00000291481.7	-	3	489	c.426G>T	c.(424-426)gaG>gaT	p.E142D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	142	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	TGACTTCGCACTCATAGCGCC	0.622																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(424-426)gaG>gaT		hyaluronan and proteoglycan link protein 4							87	76	79					19																	19371680		2203	4300	6503	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371680C>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.426G>T	19.37:g.19371680C>A	ENSP00000291481:p.Glu142Asp					AC138430.4_ENST00000586064.2_RNA	p.E142D	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	489	-			142			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.426G>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413014	0.83449	.	.	ENSG00000187664	ENST00000291481	T	0.65732	-0.17	4.66	1.09	0.20402	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	L	0.50333	1.59	0.36016	D	0.838381	D	0.55385	0.971	P	0.56343	0.796	T	0.69394	-0.5157	10	0.87932	D	0	-42.7454	7.601	0.28075	0.0:0.6596:0.0:0.3404	.	142	Q86UW8	HPLN4_HUMAN	D	142	ENSP00000291481:E142D	ENSP00000291481:E142D	E	-	3	2	HAPLN4	19232680	0.672000	0.27530	1.000000	0.80357	0.991000	0.79684	-0.105000	0.10907	0.533000	0.28675	0.561000	0.74099	GAG		0.622	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		33	36	1	0	9.65021e-13	1	1.00698e-12	33	36					A	19371680	C	A	19371680	3	1	142	1	0	0	0	0	1	0	0	0	6957	564	20	5	794	5	HAPLN4	19	19371680	Missense_Mutation	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08	6541600	19371680	39757303	28	2534										
SYT5	6861	broad.mit.edu	37	chr19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-													0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	acgatggtggccagggcccaGgggggcactgcagaggggtg					rs575458911		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(85-87)ccfs		synaptotagmin V							19	20	20					19																	55689729		2203	4299	6502	SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689729delG	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.87delC	19.37:g.55689729delG	ENSP00000346265:p.Pro29fs					SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs	p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	456	-			29					B3KWJ8|B7Z300|Q86X72	Frame_Shift_Del	DEL	ENST00000354308.3	37	c.87delC	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		3	6						3	6	---	---	---	---	-	55689729	G	-	55689729	7	5	142	1	0	1	0	1	0	0	0	0	15474	987	35	0	1101	0	SYT5	19	55689729	Frame_Shift_Del	DEL	G	TCGA-W2-A7UY-01A-11D-A35I-08	36318049	55689729	3439254	29	2535										
MAGEA12	4111	broad.mit.edu	37	chrX	151900045	151900045	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.133333333333333	4	1	1.64619883040936	0	1.74303405572755	0.0285714285714286	1	0	cggtactccaggtagttttcCtgcaccaaatcttgggtgag	11	10	1	1			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chrX:151900045C>T	ENST00000357916.4	-	2	911	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MAGEA12_ENST00000393869.3_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.Q252Q	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	252	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGTTTTCCTGCACCAAAT	0.557																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(754-756)caG>caA		melanoma antigen family A, 12							148	144	145					X																	151900045		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900045C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.756G>A	X.37:g.151900045C>T						MAGEA12_ENST00000357916.4_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.Q252Q	p.Q252Q	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	1109	-	Acute lymphoblastic leukemia(192;6.56e-05)		252			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.756G>A	CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		120	48	0	0	0	1	0	120	48					T	151900045	C	T	151900045	2	4	142	1	0	0	0	0	0	0	0	1	9166	680	24	3		3	MAGEA12	23	151900045	Silent	SNP	C	TCGA-W2-A7UY-01A-11D-A35I-08		151900045	3370515	30	2536										
KIAA1324	57535	broad.mit.edu	37	chr1	109656849	109656849	+	Frame_Shift_Del	DEL	G	G	-													0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ccatctctccgccagagtcaGgggaagaactgagaggcgca							TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr1:109656849delG	ENST00000369939.3	+	1	227	c.44delG	c.(43-45)aggfs	p.R15fs	C1orf194_ENST00000369948.3_5'Flank|KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.R15fs|C1orf194_ENST00000369949.4_5'Flank|C1orf194_ENST00000369945.3_5'Flank	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	15					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCCAGAGTCAGGGGAAGAACT	0.662																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(43-45)agfs		KIAA1324							22	24	23					1																	109656849		2201	4300	6501	SO:0001589	frameshift_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109656849delG	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.44delG	1.37:g.109656849delG	ENSP00000358955:p.Arg15fs					KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.R15fs	p.R15fs	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	1	227	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	15					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Del	DEL	ENST00000369939.3	37	c.44delG	CCDS794.1																																																																																				0.662	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		2	4						2	4	---	---	---	---	-	109656849	G	-	109656849	7	5	143	1	0	1	0	1	0	0	0	0	8223	1000	35	0	46	0	KIAA1324	1	109656849	Frame_Shift_Del	DEL	G	TCGA-WB-A80K-01A-11D-A35I-08		109656849	139593772	1	2537										
NBPF9	400818	broad.mit.edu	37	chr1	144828545	144828545	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ttgtctccttttccaggctcAacggcgtgctgatggaagtg	12	10	2	1	rs199609970	byFrequency	TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr1:144828545A>T	ENST00000281815.8	+	13	1131	c.385A>T	c.(385-387)Aac>Tac	p.N129Y	NBPF9_ENST00000338347.4_Missense_Mutation_p.N531Y|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_Silent_p.S604S			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	789						cytoplasm (GO:0005737)		p.N531Y(1)		NS(2)|prostate(1)	3						TTCCAGGCTCAACGGCGTGCT	0.453																																						ENST00000338347.4																			1	Substitution - Missense(1)	p.N531Y(1)	endometrium(1)	NS(2)|prostate(1)	3						c.(1591-1593)Aac>Tac		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144828545A>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.385A>T	1.37:g.144828545A>T	ENSP00000281815:p.Asn129Tyr					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y|NBPF9_ENST00000440491.2_Silent_p.S604S	p.N531Y							14	1591	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1591A>T		.	.	.	.	.	.	.	.	.	.	.	9.174	1.021883	0.19433	.	.	ENSG00000168614	ENST00000338347;ENST00000281815	T;T	0.07444	3.19;3.19	0.618	-1.24	0.09435	.	.	.	.	.	T	0.07638	0.0192	.	.	.	0.09310	N	1	D;P;B;B;P	0.71674	0.998;0.6;0.02;0.011;0.716	D;P;B;B;B	0.63488	0.915;0.701;0.029;0.084;0.194	T	0.12041	-1.0563	7	0.51188	T	0.08	.	.	.	.	.	595;191;762;537;604	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.;.;.;.;.	Y	531;129	ENSP00000342975:N531Y;ENSP00000281815:N129Y	ENSP00000281815:N129Y	N	+	1	0	NBPF9	143539902	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.395000	0.07287	-0.516000	0.06470	0.163000	0.16589	AAC		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		5	185	0	0	0	1	0	5	185					T	144828545	A	T	144828545	3	4	143	1	0	0	0	0	1	0	0	0	10199	130	5	5	2666	5	NBPF9	1	144828545	Missense_Mutation	SNP	A	TCGA-WB-A80K-01A-11D-A35I-08	35171696	144828545	104422076	2	2538										
GCKR	2646	broad.mit.edu	37	chr2	27728649	27728649	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	caccaagattctgctggaaaCcctgttattagcagcccata	7	12	1	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr2:27728649C>G	ENST00000264717.2	+	10	878	c.815C>G	c.(814-816)aCc>aGc	p.T272S	GCKR_ENST00000424318.2_Missense_Mutation_p.T82S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	272	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTGCTGGAAACCCTGTTATTA	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(814-816)aCc>aGc		glucokinase (hexokinase 4) regulator							108	98	101					2																	27728649		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728649C>G	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.815C>G	2.37:g.27728649C>G	ENSP00000264717:p.Thr272Ser					GCKR_ENST00000424318.2_Missense_Mutation_p.T82S	p.T272S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			10	878	+	Acute lymphoblastic leukemia(172;0.155)		272			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.815C>G	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163871	0.57476	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.60920	0.15;0.96	3.88	3.88	0.44766	Sugar isomerase (SIS) (1);	0.336772	0.28187	N	0.016264	T	0.62478	0.2431	L	0.43152	1.355	0.28847	N	0.896271	D;P;P	0.55800	0.973;0.928;0.798	P;B;P	0.56088	0.791;0.441;0.511	T	0.60821	-0.7187	10	0.66056	D	0.02	-8.9497	13.7334	0.62802	0.0:1.0:0.0:0.0	.	82;272;272	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	S	272;82	ENSP00000264717:T272S;ENSP00000409109:T82S	ENSP00000264717:T272S	T	+	2	0	GCKR	27582153	0.956000	0.32656	1.000000	0.80357	0.991000	0.79684	1.324000	0.33712	2.162000	0.67917	0.655000	0.94253	ACC		0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		5	65	0	0	0	1	0	5	65					G	27728649	C	G	27728649	3	3	143	1	0	0	0	0	1	0	0	0	6294	507	18	5	853	5	GCKR	2	27728649	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		27728649	215470724	3	2539										
RFTN1	23180	broad.mit.edu	37	chr3	16419524	16419524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	tgttggcagtagacaccggaGcactgctgcctgccgagttc	13	12	0	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr3:16419524G>A	ENST00000334133.4	-	5	799	c.527C>T	c.(526-528)gCt>gTt	p.A176V	RFTN1_ENST00000432519.1_Missense_Mutation_p.A140V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	176					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGACACCGGAGCACTGCTGCC	0.552																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(526-528)gCt>gTt		raftlin, lipid raft linker 1							70	65	67					3																	16419524		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16419524G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.527C>T	3.37:g.16419524G>A	ENSP00000334153:p.Ala176Val					RFTN1_ENST00000432519.1_Missense_Mutation_p.A140V	p.A176V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			5	799	-			176					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.527C>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625414	0.28889	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.30981	1.51;1.51;1.51	5.71	2.91	0.33838	.	1.762400	0.02361	N	0.076893	T	0.14700	0.0355	N	0.02011	-0.69	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.12156	0.007;0.005	T	0.16748	-1.0392	10	0.33940	T	0.23	-5.0933	6.9532	0.24556	0.1532:0.1494:0.6974:0.0	.	140;176	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	140;176;176	ENSP00000403926:A140V;ENSP00000334153:A176V;ENSP00000403997:A176V	ENSP00000334153:A176V	A	-	2	0	RFTN1	16394528	0.022000	0.18835	0.003000	0.11579	0.012000	0.07955	2.097000	0.41748	0.731000	0.32448	0.561000	0.74099	GCT		0.552	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		3	34	0	0	0	1	0	3	34					A	16419524	G	A	16419524	3	1	143	1	0	0	0	0	1	0	0	0	13258	971	34	3	1233	3	RFTN1	3	16419524	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		16419524	181602906	4	2540										
ECT2	1894	broad.mit.edu	37	chr3	172480266	172480266	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	aaagttcctccatttcaagaTtgtattttaagtttcctggg	7	7	1	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr3:172480266T>G	ENST00000392692.3	+	9	995	c.819T>G	c.(817-819)gaT>gaG	p.D273E	ECT2_ENST00000441497.2_Missense_Mutation_p.D242E|ECT2_ENST00000232458.5_Missense_Mutation_p.D242E|ECT2_ENST00000427830.1_Missense_Mutation_p.D242E|ECT2_ENST00000540509.1_Missense_Mutation_p.D273E|ECT2_ENST00000417960.1_Missense_Mutation_p.D241E	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	273	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CATTTCAAGATTGTATTTTAA	0.294																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(721-723)gaT>gaG		epithelial cell transforming sequence 2 oncogene							91	88	89					3																	172480266		2203	4298	6501	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480266T>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.819T>G	3.37:g.172480266T>G	ENSP00000376457:p.Asp273Glu					ECT2_ENST00000441497.2_Missense_Mutation_p.D242E|ECT2_ENST00000540509.1_Missense_Mutation_p.D273E|ECT2_ENST00000427830.1_Missense_Mutation_p.D242E|ECT2_ENST00000392692.3_Missense_Mutation_p.D273E|ECT2_ENST00000232458.5_Missense_Mutation_p.D242E	p.D241E	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		9	1200	+	Ovarian(172;0.00197)|Breast(254;0.158)		242			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.723T>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584184	0.65992	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.81	3.38	0.38709	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.65975	2.015	0.53005	D	0.999963	P;D;P;P	0.60575	0.869;0.988;0.841;0.841	P;P;P;P	0.61201	0.796;0.885;0.583;0.583	T	0.82684	-0.0335	10	0.38643	T	0.18	-25.621	9.2887	0.37773	0.0:0.3092:0.0:0.6908	.	273;273;242;241	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	E	242;273;242;241;242;273	ENSP00000232458:D242E;ENSP00000376457:D273E;ENSP00000401910:D242E;ENSP00000415876:D241E;ENSP00000412259:D242E;ENSP00000443160:D273E	ENSP00000232458:D242E	D	+	3	2	ECT2	173962960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.902000	0.28459	1.014000	0.39417	0.482000	0.46254	GAT		0.294	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		5	34	0	0	0	1	0	5	34					G	172480266	T	G	172480266	3	3	143	1	0	0	0	0	1	0	0	0	4901	1490	52	5	752	5	ECT2	3	172480266	Missense_Mutation	SNP	T	TCGA-WB-A80K-01A-11D-A35I-08	156060742	172480266	25542164	5	2541										
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	30	0	0	0	1	0	3	30					T	140811108	C	T	140811108	2	4	143	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		140811108	50343168	6	2542										
MEGF10	84466	broad.mit.edu	37	chr5	126754828	126754828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ctagggaattgactgctctaCcccatgccctctgggaacct	9	14	2	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr5:126754828C>T	ENST00000274473.6	+	12	1589	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	MEGF10_ENST00000418761.2_Missense_Mutation_p.T441I|MEGF10_ENST00000503335.2_Missense_Mutation_p.T441I|MEGF10_ENST00000508365.1_Missense_Mutation_p.T441I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	441	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GACTGCTCTACCCCATGCCCT	0.443																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1321-1323)aCc>aTc		multiple EGF-like-domains 10							230	212	218					5																	126754828		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126754828C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1322C>T	5.37:g.126754828C>T	ENSP00000274473:p.Thr441Ile					MEGF10_ENST00000508365.1_Missense_Mutation_p.T441I|MEGF10_ENST00000503335.2_Missense_Mutation_p.T441I|MEGF10_ENST00000418761.2_Missense_Mutation_p.T441I	p.T441I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	12	1589	+		Prostate(80;0.165)	441			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1322C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	9.462	1.093453	0.20471	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.73	0.584	0.17422	EGF-like region, conserved site (1);	0.378995	0.25405	N	0.030909	T	0.20941	0.0504	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18871	-1.0323	10	0.25106	T	0.35	-1.6204	9.9594	0.41686	0.0:0.5591:0.0:0.4409	.	441;441	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	I	441	ENSP00000423354:T441I;ENSP00000423195:T441I;ENSP00000416284:T441I;ENSP00000274473:T441I	ENSP00000274473:T441I	T	+	2	0	MEGF10	126782727	0.002000	0.14202	0.043000	0.18650	0.756000	0.42949	0.370000	0.20433	0.088000	0.17205	0.655000	0.94253	ACC		0.443	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		58	57	0	0	0	1	0	58	57					T	126754828	C	T	126754828	3	4	143	1	0	0	0	0	1	0	0	0	9460	507	18	3	1360	3	MEGF10	5	126754828	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		126754828	54160432	7	2543										
CYFIP2	26999	broad.mit.edu	37	chr5	156787349	156787349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	gaggtgatgcccaagatatgCcgcttgccccgacatgagta	12	11	0	3	rs373712469		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr5:156787349C>T	ENST00000521420.1	+	24	2890	c.2799C>T	c.(2797-2799)tgC>tgT	p.C933C	CYFIP2_ENST00000522463.1_Silent_p.C763C|CYFIP2_ENST00000377576.3_Silent_p.C959C|CYFIP2_ENST00000347377.6_Silent_p.C959C|CYFIP2_ENST00000318218.6_Silent_p.C984C|CYFIP2_ENST00000435847.2_Silent_p.C658C|CYFIP2_ENST00000541131.1_Silent_p.C884C|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAGATATGCCGCTTGCCCC	0.517																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2875-2877)tgC>tgT		cytoplasmic FMR1 interacting protein 2		C	,,	0,4108		0,0,2054	146	149	148		2877,2877,2877	1.8	1	5		148	1,8453		0,1,4226	no	coding-synonymous,coding-synonymous,coding-synonymous	CYFIP2	NM_001037332.2,NM_001037333.1,NM_014376.2	,,	0,1,6280	TT,TC,CC		0.0118,0.0,0.0080	,,	959/1254,959/1254,959/1254	156787349	1,12561	2054	4227	6281	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156787349C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2799C>T	5.37:g.156787349C>T						CYFIP2_ENST00000521420.1_Silent_p.C933C|CYFIP2_ENST00000522463.1_Silent_p.C763C|CYFIP2_ENST00000541131.1_Silent_p.C884C|CYFIP2_ENST00000318218.6_Silent_p.C984C|CYFIP2_ENST00000435847.2_Silent_p.C658C|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.C959C	p.C959C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		25	3308	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	984						Silent	SNP	ENST00000521420.1	37	c.2877C>T																																																																																					0.517	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		4	121	0	0	0	1	0	4	121					T	156787349	C	T	156787349	2	4	143	1	0	0	0	0	0	0	0	1	4138	747	26	3		3	CYFIP2	5	156787349	Silent	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08	30032521	156787349	24127911	8	2544										
COL11A2	1302	broad.mit.edu	37	chr6	33134291	33134291	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	gaacagaggcagtactcacgGggaggccggggggacctcca	17	11	1	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr6:33134291G>C	ENST00000374708.4	-	58	4391	c.4133C>G	c.(4132-4134)cCc>cGc	p.P1378R	COL11A2_ENST00000374714.1_Splice_Site_p.P1438R|COL11A2_ENST00000357486.1_Splice_Site_p.P1443R|COL11A2_ENST00000341947.2_Splice_Site_p.P1464R|COL11A2_ENST00000374713.1_Splice_Site_p.P1417R|COL11A2_ENST00000361917.1_Splice_Site_p.P1357R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.P1383R|COL11A2_ENST00000395197.1_Splice_Site_p.P1404R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1464	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGTACTCACGGGGAGGCCGGG	0.612																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.e60+1		collagen, type XI, alpha 2							57	53	54					6																	33134291		2203	4300	6503	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33134291G>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4134+1C>G	6.37:g.33134291G>C						COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.P1383_splice|COL11A2_ENST00000374713.1_Splice_Site_p.P1417_splice|COL11A2_ENST00000395197.1_Splice_Site_p.P1404_splice|COL11A2_ENST00000361917.1_Splice_Site_p.P1357_splice|COL11A2_ENST00000357486.1_Splice_Site_p.P1443_splice|COL11A2_ENST00000374714.1_Splice_Site_p.P1438_splice|COL11A2_ENST00000374708.4_Splice_Site_p.P1378_splice	p.P1464_splice	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			60	4618	-			1464			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Splice_Site	SNP	ENST00000374708.4	37	c.4392_splice	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847618	0.51164	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	L	0.46614	1.455	0.58432	D	0.999998	P;P;P	0.44946	0.815;0.815;0.846	B;B;P	0.46718	0.39;0.39;0.525	D	0.93580	0.6912	10	0.54805	T	0.06	.	12.7437	0.57268	0.0:0.0:1.0:0.0	.	1357;1378;1464	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	1378;1464;1443;1438;1417;1404;1383;1357	ENSP00000363840:P1378R;ENSP00000339915:P1464R;ENSP00000350079:P1443R;ENSP00000363846:P1438R;ENSP00000363845:P1417R;ENSP00000378623:P1404R;ENSP00000363844:P1383R;ENSP00000355123:P1357R	ENSP00000339915:P1464R	P	-	2	0	COL11A2	33242269	1.000000	0.71417	0.983000	0.44433	0.193000	0.23685	4.381000	0.59587	1.842000	0.53543	0.448000	0.29417	CCC		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Missense_Mutation	3	42	0	0	0	1	0	3	42					C	33134291	G	C	33134291	5	2	143	1	0	0	0	0	0	0	1	0	3668	1246	43	5	847	5	COL11A2	6	33134291	Splice_Site	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		33134291	137980776	9	2545										
PTCRA	171558	broad.mit.edu	37	chr6	42890951	42890951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ctatggcccttccccagcaaCggatggcacctggaccaact	9	16	0	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr6:42890951C>T	ENST00000304672.1	+	2	326	c.245C>T	c.(244-246)aCg>aTg	p.T82M	PTCRA_ENST00000441198.1_Missense_Mutation_p.T57M|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	82					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TCCCCAGCAACGGATGGCACC	0.622																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(244-246)aCg>aTg		pre T-cell antigen receptor alpha							170	134	146					6																	42890951		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890951C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.245C>T	6.37:g.42890951C>T	ENSP00000304447:p.Thr82Met					PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.T57M	p.T82M	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	326	+	Colorectal(47;0.196)		82					Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.245C>T	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455906	0.26161	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.47869	0.88;0.83	5.84	-6.42	0.01932	Immunoglobulin-like fold (1);	1.223990	0.05940	N	0.636752	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B;B	0.29253	0.239;0.016	B;B	0.15870	0.014;0.002	T	0.11470	-1.0586	10	0.56958	D	0.05	0.1062	0.4573	0.00511	0.2636:0.3062:0.1877:0.2426	.	57;82	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	M	82;57	ENSP00000304447:T82M;ENSP00000409550:T57M	ENSP00000304447:T82M	T	+	2	0	PTCRA	42998929	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.603000	0.05674	-1.119000	0.02958	-1.223000	0.01593	ACG		0.622	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		14	55	0	0	0	1	0	14	55					T	42890951	C	T	42890951	3	4	143	1	0	0	0	0	1	0	0	0	12735	536	19	1	251	1	PTCRA	6	42890951	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08	9756660	42890951	128224116	10	2546										
DLC1	10395	broad.mit.edu	37	chr8	12958214	12958214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	tcaagccgggaccacctcttGctgtccctttggaaagtcca	9	14	2	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr8:12958214G>T	ENST00000276297.4	-	9	2041	c.1632C>A	c.(1630-1632)agC>agA	p.S544R	DLC1_ENST00000520226.1_Missense_Mutation_p.S33R|DLC1_ENST00000512044.2_Missense_Mutation_p.S141R|DLC1_ENST00000358919.2_Missense_Mutation_p.S107R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	544					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACCACCTCTTGCTGTCCCTTT	0.552																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1630-1632)agC>agA		deleted in liver cancer 1							42	46	44					8																	12958214		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12958214G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1632C>A	8.37:g.12958214G>T	ENSP00000276297:p.Ser544Arg					DLC1_ENST00000358919.2_Missense_Mutation_p.S107R|DLC1_ENST00000520226.1_Missense_Mutation_p.S33R|DLC1_ENST00000512044.2_Missense_Mutation_p.S141R	p.S544R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2041	-			544					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1632C>A	CCDS5989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.58|14.58	2.577403|2.577403	0.45902|0.45902	.|.	.|.	ENSG00000164741|ENSG00000164741	ENST00000503161|ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	.|T;T;T;T	.|0.45276	.|0.9;0.9;0.9;2.98	5.22|5.22	2.44|2.44	0.29823|0.29823	.|.	.|0.080946	.|0.85682	.|D	.|0.000000	T|T	0.59487|0.59487	0.2197|0.2197	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D;P;B	.|0.76494	.|0.999;0.578;0.111	.|D;B;B	.|0.67725	.|0.953;0.321;0.122	T|T	0.61287|0.61287	-0.7093|-0.7093	6|10	0.87932|0.87932	D|D	0|0	.|.	10.6502|10.6502	0.45645|0.45645	0.207:0.0:0.793:0.0|0.207:0.0:0.793:0.0	.|.	.|544;141;107	.|Q96QB1;E9PDZ8;Q96QB1-1	.|RHG07_HUMAN;.;.	E|R	16|544;107;141;33	.|ENSP00000276297:S544R;ENSP00000351797:S107R;ENSP00000422595:S141R;ENSP00000428028:S33R	ENSP00000429537:A16E|ENSP00000276297:S544R	A|S	-|-	2|3	0|2	DLC1|DLC1	13002585|13002585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.294000|2.294000	0.43567|0.43567	0.444000|0.444000	0.26612|0.26612	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.552	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	37	1	0	1	1	1	3	37					T	12958214	G	T	12958214	3	4	143	1	0	0	0	0	1	0	0	0	4550	1310	46	5	2994	5	DLC1	8	12958214	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		12958214	133405808	11	2547										
PLEC	5339	broad.mit.edu	37	chr8	145000031	145000031	+	Frame_Shift_Del	DEL	C	C	-													0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	cagccgctcgcgctcctctgCccgctgctgctcagccagcc							TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr8:145000031delC	ENST00000322810.4	-	31	4646	c.4477delG	c.(4477-4479)gcafs	p.A1493fs	PLEC_ENST00000345136.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.A1383fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.A1334fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A1360fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A1342fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A1324fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A1379fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1493	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCCTCTGCCCGCTGCTGC	0.701																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4477-4479)cafs		plectin							2	3	3					8																	145000031		1651	3374	5025	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145000031delC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4477delG	8.37:g.145000031delC	ENSP00000323856:p.Ala1493fs					PLEC_ENST00000436759.2_Frame_Shift_Del_p.A1383fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.A1342fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.A1379fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.A1360fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.A1324fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.A1356fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.A1334fs	p.A1493fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	4646	-			1493			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.4477delG	CCDS43772.1																																																																																				0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		2	4						2	4	---	---	---	---	-	145000031	C	-	145000031	7	5	143	1	0	1	0	1	0	0	0	0	12052	739	26	0	9585	0	PLEC	8	145000031	Frame_Shift_Del	DEL	C	TCGA-WB-A80K-01A-11D-A35I-08	132041817	145000031	1363991	12	2548										
ZP1	22917	broad.mit.edu	37	chr11	60637317	60637317	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	acctaccctcgccaccctggCtcaaccccactggggcacct	7	21	1	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr11:60637317C>T	ENST00000278853.5	+	3	626	c.626C>T	c.(625-627)gCt>gTt	p.A209V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	209					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCACCCTGGCTCAACCCCAC	0.587																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(625-627)gCt>gTt		zona pellucida glycoprotein 1 (sperm receptor)							58	55	56					11																	60637317		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637317C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"Zona pellucida glycoproteins"	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.626C>T	11.37:g.60637317C>T	ENSP00000278853:p.Ala209Val						p.A209V	NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN			3	626	+			209						Missense_Mutation	SNP	ENST00000278853.5	37	c.626C>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614760	0.46631	.	.	ENSG00000149506	ENST00000278853	T	0.23348	1.91	4.44	3.52	0.40303	.	.	.	.	.	T	0.15565	0.0375	N	0.22421	0.69	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.17715	-1.0360	9	0.29301	T	0.29	-0.811	8.6112	0.33804	0.0:0.8903:0.0:0.1097	.	209	P60852	ZP1_HUMAN	V	209	ENSP00000278853:A209V	ENSP00000278853:A209V	A	+	2	0	ZP1	60393893	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.518000	0.06267	0.978000	0.38470	0.460000	0.39030	GCT		0.587	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		3	37	0	0	0	1	0	3	37					T	60637317	C	T	60637317	3	4	143	1	0	0	0	0	1	0	0	0	18212	797	28	3	636	3	ZP1	11	60637317	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		60637317	74369199	13	2549										
SCARB1	949	broad.mit.edu	37	chr12	125292412	125292412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	aaacagggttttgggagccaCgaagcgataggtggggatgc	17	6	0	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr12:125292412C>G	ENST00000415380.2	-	7	1029	c.904G>C	c.(904-906)Gtg>Ctg	p.V302L	SCARB1_ENST00000544327.1_Missense_Mutation_p.V248L|SCARB1_ENST00000540495.1_Missense_Mutation_p.V265L|SCARB1_ENST00000339570.5_Missense_Mutation_p.V302L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000261693.6_Missense_Mutation_p.V302L|SCARB1_ENST00000376788.1_Missense_Mutation_p.V202L|SCARB1_ENST00000546215.1_Missense_Mutation_p.V302L|SCARB1_ENST00000541205.1_Missense_Mutation_p.V261L			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	302					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TTGGGAGCCACGAAGCGATAG	0.567																																						ENST00000339570.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(904-906)Gtg>Ctg		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						125	104	111					12																	125292412		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125292412C>G	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.904G>C	12.37:g.125292412C>G	ENSP00000414979:p.Val302Leu					SCARB1_ENST00000544327.1_Missense_Mutation_p.V248L|SCARB1_ENST00000261693.6_Missense_Mutation_p.V302L|SCARB1_ENST00000546215.1_Missense_Mutation_p.V302L|SCARB1_ENST00000541205.1_Missense_Mutation_p.V261L|SCARB1_ENST00000540495.1_Missense_Mutation_p.V265L|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.V302L|SCARB1_ENST00000376788.1_Missense_Mutation_p.V202L	p.V302L	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	7	1100	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		302					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.904G>C		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916249	0.52546	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.57	3.61	0.41365	.	0.556823	0.19469	N	0.113514	T	0.70098	0.3185	M	0.87971	2.92	0.40100	D	0.976355	B;B;B;B;B;B	0.27380	0.048;0.026;0.177;0.177;0.039;0.044	B;B;B;B;B;B	0.29440	0.102;0.028;0.102;0.102;0.025;0.034	T	0.65961	-0.6041	10	0.41790	T	0.15	-21.1876	4.4721	0.11717	0.1524:0.5881:0.0:0.2595	.	261;302;302;302;302;302	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	L	302;302;302;202;302;261;248;265	ENSP00000343795:V302L;ENSP00000414979:V302L;ENSP00000261693:V302L;ENSP00000365984:V202L;ENSP00000442862:V302L;ENSP00000446107:V261L;ENSP00000444851:V248L;ENSP00000443286:V265L	ENSP00000261693:V302L	V	-	1	0	SCARB1	123858365	0.951000	0.32395	1.000000	0.80357	0.988000	0.76386	1.249000	0.32839	0.591000	0.29711	0.491000	0.48974	GTG		0.567	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		16	40	0	0	0	1	0	16	40					G	125292412	C	G	125292412	3	3	143	1	0	0	0	0	1	0	0	0	13881	536	19	5	773	5	SCARB1	12	125292412	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		125292412	8559483	14	2550										
TMEM132B	114795	broad.mit.edu	37	chr12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	gcatgtatgccttgctctgcGtcttctgtctggccattctg	10	12	5	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2719-2721)Gtc>Atc		transmembrane protein 132B							98	96	97					12																	126138738		2038	4218	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138738G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	p.V907I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2727	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		907					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2719G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	96	0	0	0	1	0	4	96					A	126138738	G	A	126138738	3	1	143	1	0	0	0	0	1	0	0	0	16043	1145	40	1	2753	1	TMEM132B	12	126138738	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08	846326	126138738	7713157	15	2551										
ING1	3621	broad.mit.edu	37	chr13	111366587	111366587	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	agtccctgcctttcgacttgCagagaaatgtctcgctgatg	10	11	1	2			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr13:111366587C>G	ENST00000375774.3	+	0	0				CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000333219.7_Missense_Mutation_p.Q31E|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTCGACTTGCAGAGAAATGT	0.627																																						ENST00000333219.7																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(91-93)Cag>Gag		inhibitor of growth family, member 1							79	62	68					13																	111366587		2203	4300	6503	SO:0001631	upstream_gene_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111366587C>G		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366587C>G	Exception_encountered					ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	p.Q31E	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	963	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		0					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.91C>G	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067301	0.55539	.	.	ENSG00000153487	ENST00000333219	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	T	0.61702	0.2368	M	0.73217	2.22	0.80722	D	1	B	0.25719	0.132	B	0.25614	0.062	T	0.64647	-0.6358	8	0.48119	T	0.1	.	14.5205	0.67847	0.0:1.0:0.0:0.0	.	31	Q5T9H0	.	E	31	.	ENSP00000328436:Q31E	Q	+	1	0	ING1	110164588	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	6.600000	0.74132	1.375000	0.46248	0.561000	0.74099	CAG		0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		12	34	0	0	0	1	0	12	34					G	111366587	C	G	111366587	1	3	143	0	1	0	0	0	0	0	0	0	7735	711	25	5		5	ING1	13	111366587	5'Flank	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		111366587	3803291	16	2552										
NRL	4901	broad.mit.edu	37	chr14	24551759	24551759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	cagggactgggccctgacccTgcagcagctccatggcctct	12	16	1	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr14:24551759T>C	ENST00000561028.1	-	2	618	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	NRL_ENST00000396995.1_5'Flank|NRL_ENST00000397002.2_Missense_Mutation_p.Q100R|NRL_ENST00000396997.1_Missense_Mutation_p.Q100R|NRL_ENST00000560550.1_5'Flank			P54845	NRL_HUMAN	neural retina leucine zipper	100					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		GCCCTGACCCTGCAGCAGCTC	0.657																																						ENST00000561028.1																			0				lung(2)	2						c.(298-300)cAg>cGg		neural retina leucine zipper							33	36	35					14																	24551759		2198	4294	6492	SO:0001583	missense	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551759T>C		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.299A>G	14.37:g.24551759T>C	ENSP00000454062:p.Gln100Arg					NRL_ENST00000397002.2_Missense_Mutation_p.Q100R|NRL_ENST00000396997.1_Missense_Mutation_p.Q100R	p.Q100R			P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	618	-			100					A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	c.299A>G	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	T	7.337	0.620185	0.14193	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	T;T	0.77229	-1.08;-1.08	5.19	5.19	0.71726	Maf transcription factor, N-terminal (1);	0.226336	0.34025	N	0.004322	T	0.64789	0.2630	L	0.36672	1.1	0.80722	D	1	B	0.29232	0.238	B	0.28011	0.085	T	0.59820	-0.7382	10	0.18710	T	0.47	-31.6105	8.3962	0.32559	0.1742:0.0:0.0:0.8258	.	100	P54845	NRL_HUMAN	R	100	ENSP00000380197:Q100R;ENSP00000380193:Q100R	ENSP00000337023:Q100R	Q	-	2	0	NRL	23621599	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.455000	0.35190	2.177000	0.69029	0.533000	0.62120	CAG		0.657	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			3	40	0	0	0	1	0	3	40					C	24551759	T	C	24551759	3	2	143	1	0	0	0	0	1	0	0	0	10656	1580	55	4	422	4	NRL	14	24551759	Missense_Mutation	SNP	T	TCGA-WB-A80K-01A-11D-A35I-08		24551759	82797781	17	2553										
SEMA6D	80031	broad.mit.edu	37	chr15	48063896	48063896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ggacgggactaaagaggacgCcgtccttaaaacctgacgtg	13	10	0	2			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr15:48063896C>T	ENST00000316364.5	+	19	3575	c.3136C>T	c.(3136-3138)Ccg>Tcg	p.P1046S	SEMA6D_ENST00000354744.4_Missense_Mutation_p.P990S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1046S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P971S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P1003S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1027S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P984S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1046					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAAGAGGACGCCGTCCTTAAA	0.512																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(3136-3138)Ccg>Tcg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							178	176	177					15																	48063896		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063896C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.3136C>T	15.37:g.48063896C>T	ENSP00000324857:p.Pro1046Ser					SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P971S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1046S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P990S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P984S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P1003S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P984S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1027S	p.P1046S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3575	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	1046					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.3136C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459828	0.43736	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18016	2.24;2.27;2.27;2.29;2.24;2.24;2.24;2.25	5.2	5.2	0.72013	.	0.348334	0.33631	N	0.004718	T	0.29158	0.0725	L	0.46157	1.445	0.80722	D	1	B;B;D;B	0.58268	0.259;0.164;0.982;0.259	B;B;P;B	0.52424	0.041;0.041;0.698;0.041	T	0.00931	-1.1510	10	0.66056	D	0.02	.	18.9313	0.92566	0.0:1.0:0.0:0.0	.	971;990;1046;984	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	S	984;1046;1046;1027;1003;990;984;971	ENSP00000442040:P984S;ENSP00000446152:P1046S;ENSP00000324857:P1046S;ENSP00000374084:P1027S;ENSP00000374083:P1003S;ENSP00000346786:P990S;ENSP00000350770:P984S;ENSP00000374079:P971S	ENSP00000324857:P1046S	P	+	1	0	SEMA6D	45851188	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.360000	0.59455	2.717000	0.92951	0.655000	0.94253	CCG		0.512	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		20	171	0	0	0	1	0	20	171					T	48063896	C	T	48063896	3	4	143	1	0	0	0	0	1	0	0	0	14042	739	26	3	3249	3	SEMA6D	15	48063896	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		48063896	54467496	18	2554										
RNPS1	10921	broad.mit.edu	37	chr16	2314324	2314324	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ggtctttgcgtttggtaggtGaaggagccctggatggtgag	18	5	1	2			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr16:2314324G>A	ENST00000565678.1	-	3	625	c.80C>T	c.(79-81)tCa>tTa	p.S27L	RNPS1_ENST00000320225.5_Missense_Mutation_p.S27L|RNPS1_ENST00000568631.1_Missense_Mutation_p.S27L|RNPS1_ENST00000397086.2_Missense_Mutation_p.S27L|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000567147.1_Missense_Mutation_p.S4L|RNPS1_ENST00000301730.8_Missense_Mutation_p.S27L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.S4L			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	27	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTTGGTAGGTGAAGGAGCCCT	0.557																																						ENST00000565678.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						c.(79-81)tCa>tTa		RNA binding protein S1, serine-rich domain							126	122	123					16																	2314324		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2314324G>A	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.80C>T	16.37:g.2314324G>A	ENSP00000457723:p.Ser27Leu					RNPS1_ENST00000566458.1_Missense_Mutation_p.S4L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000568631.1_Missense_Mutation_p.S27L|RNPS1_ENST00000397086.2_Missense_Mutation_p.S27L|RNPS1_ENST00000567147.1_Missense_Mutation_p.S4L|RNPS1_ENST00000301730.8_Missense_Mutation_p.S27L|RNPS1_ENST00000320225.5_Missense_Mutation_p.S27L	p.S27L			Q15287	RNPS1_HUMAN			3	625	-			27			Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.80C>T	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596501	0.46318	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.06687	3.27;3.27;3.27	5.69	4.7	0.59300	.	0.053945	0.85682	D	0.000000	T	0.13072	0.0317	M	0.67953	2.075	0.58432	D	0.999999	B;B	0.18166	0.026;0.015	B;B	0.21917	0.037;0.017	T	0.01839	-1.1263	10	0.72032	D	0.01	-10.7989	13.4247	0.61018	0.0:0.0:0.8417:0.1583	.	4;27	Q15287-2;Q15287	.;RNPS1_HUMAN	L	27	ENSP00000315859:S27L;ENSP00000380275:S27L;ENSP00000301730:S27L	ENSP00000301730:S27L	S	-	2	0	RNPS1	2254325	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.092000	0.94157	1.337000	0.45525	0.551000	0.68910	TCA		0.557	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		8	116	0	0	0	1	0	8	116					A	2314324	G	A	2314324	3	1	143	1	0	0	0	0	1	0	0	0	13511	1294	45	3	861	3	RNPS1	16	2314324	Missense_Mutation	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		2314324	88040429	19	2555										
TFAP4	7023	broad.mit.edu	37	chr16	4312678	4312678	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	tcctggtcccgctgagtctcGggggttagtggaatgttggc	16	9	1	1			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr16:4312678G>C	ENST00000204517.6	-	2	442	c.114C>G	c.(112-114)ccC>ccG	p.P38P		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	38					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCTGAGTCTCGGGGGTTAGTG	0.622																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(112-114)ccC>ccG		transcription factor AP-4 (activating enhancer binding protein 4)							80	84	83					16																	4312678		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312678G>C	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.114C>G	16.37:g.4312678G>C							p.P38P	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			2	442	-			38					O60409	Silent	SNP	ENST00000204517.6	37	c.114C>G	CCDS10510.1																																																																																				0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		4	69	0	0	0	1	0	4	69					C	4312678	G	C	4312678	2	2	143	1	0	0	0	0	0	0	0	1	15789	1103	39	5		5	TFAP4	16	4312678	Silent	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08	1998354	4312678	86042075	20	2556										
PHB	5245	broad.mit.edu	37	chr17	47486440	47486440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	aggatgagcccaaaggtggcGgctcgctctgtaaggtcgtc	15	10	1	1	rs201875820		TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr17:47486440G>A	ENST00000300408.3	-	5	546	c.474C>T	c.(472-474)gcC>gcT	p.A158A	PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	158					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CAAAGGTGGCGGCTCGCTCTG	0.587																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(472-474)gcC>gcT		prohibitin							73	69	70					17																	47486440		2203	4300	6503	SO:0001819	synonymous_variant	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486440G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.474C>T	17.37:g.47486440G>A						RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_5'UTR	p.A158A	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		5	546	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		158					B4DY47|Q4VBQ0	Silent	SNP	ENST00000300408.3	37	c.474C>T	CCDS11548.1																																																																																				0.587	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		11	41	0	0	0	1	0	11	41					A	47486440	G	A	47486440	2	1	143	1	0	0	0	0	0	0	0	1	11814	1103	39	2		2	PHB	17	47486440	Silent	SNP	G	TCGA-WB-A80K-01A-11D-A35I-08		47486440	33708770	21	2557										
PDE4A	5141	broad.mit.edu	37	chr19	10577609	10577609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	cccattgtgggagacctgggCggaccttgtccacccagatg	13	13	0	2			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chr19:10577609C>T	ENST00000352831.6	+	15	2083	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	PDE4A_ENST00000344979.3_Missense_Mutation_p.A419V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A632V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A636V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A597V|PDE4A_ENST00000380702.2_Missense_Mutation_p.A636V	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	658	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GAGACCTGGGCGGACCTTGTC	0.572																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1906-1908)gCg>gTg		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						56	61	59					19																	10577609		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10577609C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1973C>T	19.37:g.10577609C>T	ENSP00000270474:p.Ala658Val					PDE4A_ENST00000344979.3_Missense_Mutation_p.A419V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A636V|PDE4A_ENST00000440014.2_Missense_Mutation_p.A597V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A658V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A632V	p.A636V			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	1907	+			658			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1907C>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.545472	0.86022	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	4.87	4.87	0.63330	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.111639	0.64402	D	0.000010	D	0.88433	0.6435	M	0.67700	2.07	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.936;0.996;0.942;0.965	D	0.89652	0.3870	10	0.87932	D	0	.	15.8874	0.79261	0.0:1.0:0.0:0.0	.	419;597;632;658	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	V	100;636;658;632;597;419	ENSP00000370078:A636V;ENSP00000270474:A658V;ENSP00000293683:A632V;ENSP00000394754:A597V;ENSP00000341007:A419V	ENSP00000293683:A632V	A	+	2	0	PDE4A	10438609	1.000000	0.71417	0.951000	0.38953	0.741000	0.42261	4.967000	0.63722	2.427000	0.82271	0.550000	0.68814	GCG		0.572	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			39	74	0	0	0	1	0	39	74					T	10577609	C	T	10577609	3	4	143	1	0	0	0	0	1	0	0	0	11639	768	27	1	2488	1	PDE4A	19	10577609	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08		10577609	48551374	22	2558										
NRK	203447	broad.mit.edu	37	chrX	105149314	105149314	+	Frame_Shift_Del	DEL	C	C	-													0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	ttattttgcgggaatctgctCccacagtcaaatccagcgga							TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:105149314delC	ENST00000243300.9	+	10	1126	c.823delC	c.(823-825)cccfs	p.P275fs	NRK_ENST00000428173.2_Frame_Shift_Del_p.P275fs	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAATCTGCTCCCACAGTCAA	0.368										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(823-825)ccfs		Nik related kinase							133	111	118					X																	105149314		1864	4080	5944	SO:0001589	frameshift_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105149314delC	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.823delC	X.37:g.105149314delC	ENSP00000434830:p.Pro275fs	HNSCC(51;0.14)				NRK_ENST00000243300.9_Frame_Shift_Del_p.P275fs	p.P275fs			Q7Z2Y5	NRK_HUMAN			10	1126	+			275			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Frame_Shift_Del	DEL	ENST00000243300.9	37	c.823delC																																																																																					0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		2	4						2	4	---	---	---	---	-	105149314	C	-	105149314	7	5	143	1	0	1	0	1	0	0	0	0	10655	855	30	0	861	0	NRK	23	105149314	Frame_Shift_Del	DEL	C	TCGA-WB-A80K-01A-11D-A35I-08		105149314	50121246	23	2559										
GPR50	9248	broad.mit.edu	37	chrX	150349267	150349267	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0416666666666667	1	1	0.657754010695187	0	1.01652892561983	1	1	0	aaatctgcctctacccaccaCaagtctgtctttagccactc	4	16	4	0			TCGA-WB-A80K-01A-11D-A35I-08	TCGA-WB-A80K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1af203-5d3f-48c4-88bd-be808fe0f6f8	731b0a29-9ad3-4daf-98c1-7cf7ba584796	g.chrX:150349267C>G	ENST00000218316.3	+	2	1281	c.1212C>G	c.(1210-1212)caC>caG	p.H404Q	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	404	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.H404Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCCACCACAAGTCTGTCT	0.602																																						ENST00000218316.3																			2	Substitution - Missense(2)	p.H404Q(2)	endometrium(2)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1210-1212)caC>caG		G protein-coupled receptor 50							111	125	120					X																	150349267		2086	4201	6287	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349267C>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"GPCR / Class A : Orphans"	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1212C>G	X.37:g.150349267C>G	ENSP00000218316:p.His404Gln						p.H404Q	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1281	+	Acute lymphoblastic leukemia(192;6.56e-05)		404			Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1212C>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509242	0.04231	.	.	ENSG00000102195	ENST00000218316	T	0.72942	-0.7	3.91	-7.81	0.01210	.	0.912891	0.09022	N	0.860024	T	0.40956	0.1138	N	0.19112	0.55	0.09310	N	1	P	0.35982	0.531	B	0.22753	0.041	T	0.30416	-0.9979	10	0.49607	T	0.09	-0.5391	3.6865	0.08329	0.1029:0.2982:0.1007:0.4981	.	404	Q13585	MTR1L_HUMAN	Q	404	ENSP00000218316:H404Q	ENSP00000218316:H404Q	H	+	3	2	GPR50	150099925	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.338000	0.07842	-3.015000	0.00271	-2.401000	0.00224	CAC		0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		5	63	0	0	0	1	0	5	63					G	150349267	C	G	150349267	3	3	143	1	0	0	0	0	1	0	0	0	6697	477	17	5	1218	5	GPR50	23	150349267	Missense_Mutation	SNP	C	TCGA-WB-A80K-01A-11D-A35I-08	45199953	150349267	4921293	24	2560										
NGEF	25791	broad.mit.edu	37	chr2	233785226	233785226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggtattgtcttctatttctGcatcctgttgcctcctggtt	8	10	3	0			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr2:233785226G>A	ENST00000264051.3	-	5	874	c.596C>T	c.(595-597)gCa>gTa	p.A199V	NGEF_ENST00000373552.4_Missense_Mutation_p.A107V|NGEF_ENST00000409079.1_Missense_Mutation_p.A107V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	199	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTCTATTTCTGCATCCTGTTG	0.512																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(595-597)gCa>gTa		neuronal guanine nucleotide exchange factor							105	110	108					2																	233785226		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785226G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.596C>T	2.37:g.233785226G>A	ENSP00000264051:p.Ala199Val					NGEF_ENST00000373552.4_Missense_Mutation_p.A107V|NGEF_ENST00000409079.1_Missense_Mutation_p.A107V	p.A199V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	874	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	199			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.596C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733430	0.30684	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000409079	T;T	0.72505	-0.5;-0.66	5.2	5.2	0.72013	.	0.290984	0.34603	N	0.003836	T	0.55986	0.1955	N	0.24115	0.695	0.80722	D	1	B;P;B	0.43477	0.113;0.808;0.294	B;B;B	0.37144	0.036;0.242;0.057	T	0.63721	-0.6573	10	0.62326	D	0.03	-4.0148	13.6606	0.62366	0.0:0.0:0.8452:0.1548	.	107;107;199	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	V	199;107;89;107	ENSP00000264051:A199V;ENSP00000362653:A107V	ENSP00000264051:A199V	A	-	2	0	NGEF	233493470	0.921000	0.31238	0.966000	0.40874	0.196000	0.23810	4.308000	0.59129	2.433000	0.82419	0.491000	0.48974	GCA		0.512	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		4	78	0	0	0	1	0	4	78					A	233785226	G	A	233785226	3	1	144	1	0	0	0	0	1	0	0	0	10394	1319	46	3	1580	3	NGEF	2	233785226	Missense_Mutation	SNP	G	TCGA-WB-A80L-01A-11D-A35I-08		233785226	9414147	1	2561										
PPARGC1A	10891	broad.mit.edu	37	chr4	23816227	23816227	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagtggtgggtggagttagGcctaaggcaaaaattaaaaa	15	3	0	0			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr4:23816227G>T	ENST00000264867.2	-	8	998	c.879C>A	c.(877-879)ggC>ggA	p.G293G	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	293	Interaction with PPARG.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTGGAGTTAGGCCTAAGGCAA	0.393																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.e8-1		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							45	48	47					4																	23816227		2203	4300	6503	SO:0001630	splice_region_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816227G>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.878-1C>A	4.37:g.23816227G>T						PPARGC1A_ENST00000509702.1_5'UTR	p.G293_splice	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	998	-		Breast(46;0.0503)	293			Interaction with PPARG.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Splice_Site	SNP	ENST00000264867.2	37	c.877_splice	CCDS3429.1																																																																																				0.393	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	Silent	7	26	1	0	0.00198382	1	0.00198382	7	26					T	23816227	G	T	23816227	5	4	144	1	0	0	0	0	0	0	1	0	12300	1217	42	5	1541	5	PPARGC1A	4	23816227	Splice_Site	SNP	G	TCGA-WB-A80L-01A-11D-A35I-08		23816227	167338049	2	2562										
FOXC1	2296	broad.mit.edu	37	chr6	1612142	1612144	+	In_Frame_Del	DEL	GCG	GCG	-													0	0	1	0	0	0	1	1	0	acctgggccacttggcgagcGcggcggcggcggcggcggcc					rs373281258		TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr6:1612142_1612144delGCG	ENST00000380874.2	+	1	1462_1464	c.1462_1464delGCG	c.(1462-1464)gcgdel	p.A495del		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	495	Poly-Ala.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTGGCGAGCgcggcggcggcgg	0.709																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1462-1464)del		forkhead box C1				60,2238		8,44,1097						0	0.6			5	176,4724		16,144,2290	no	coding	FOXC1	NM_001453.2		24,188,3387	A1A1,A1R,RR		3.5918,2.611,3.2787				236,6962				SO:0001651	inframe_deletion	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612142_1612144delGCG	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1462_1464delGCG	6.37:g.1612151_1612153delGCG	ENSP00000370256:p.Ala495del						p.A495del	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1462_1464	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	495			Poly-Ala.		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Del	DEL	ENST00000380874.2	37	c.1462_1464delGCG	CCDS4473.1																																																																																				0.709	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			2	4						2	4	---	---	---	---	-	1612144	GCG	-	1612142	7	5	144	1	0	1	0	1	0	0	0	0	5994	1087	38	0	1464	0	FOXC1	6	1612142	In_Frame_Del	DEL	GCG	TCGA-WB-A80L-01A-11D-A35I-08		1612142	169502925	3	2563										
SHANK2	22941	broad.mit.edu	37	chr11	70319087	70319087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gtttggtaagtgactgccatCgatctcattgtccatgaagg	11	8	1	2			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr11:70319087C>T	ENST00000423696.2	-	16	4336	c.4300G>A	c.(4300-4302)Gat>Aat	p.D1434N	SHANK2_ENST00000449833.2_Missense_Mutation_p.D1218N|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1814N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D1217N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1434	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGACTGCCATCGATCTCATTG	0.478																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5440-5442)Gat>Aat		SH3 and multiple ankyrin repeat domains 2							196	189	191					11																	70319087		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319087C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4300G>A	11.37:g.70319087C>T	ENSP00000394536:p.Asp1434Asn					SHANK2_ENST00000423696.2_Missense_Mutation_p.D1434N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D1218N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D1217N	p.D1814N			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5439	-			1434					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5440G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.454502	0.96223	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	6.03	6.03	0.97812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.134298	0.64402	D	0.000003	T	0.69771	0.3148	L	0.49350	1.555	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72075	0.976;0.936;0.959	T	0.68070	-0.5506	10	0.59425	D	0.04	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1434;1813;1218	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	N	1218;1217;1092;1814;1434;1452;1437	ENSP00000399423:D1218N;ENSP00000386491:D1217N;ENSP00000402944:D1092N;ENSP00000345193:D1814N;ENSP00000394536:D1434N;ENSP00000294018:D1437N	ENSP00000294018:D1437N	D	-	1	0	SHANK2	69996735	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.592000	0.82676	2.861000	0.98227	0.655000	0.94253	GAT		0.478	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	107	0	0	0	1	0	4	107					T	70319087	C	T	70319087	3	4	144	1	0	0	0	0	1	0	0	0	14265	884	31	2	116	2	SHANK2	11	70319087	Missense_Mutation	SNP	C	TCGA-WB-A80L-01A-11D-A35I-08		70319087	64687429	4	2564										
C12orf11	55726	broad.mit.edu	37	chr12	27067050	27067050	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttcacaataacactggcTaatggaactacctgttagat	6	9	2	1			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr12:27067050T>C	ENST00000261191.7	-	13	1967	c.1431A>G	c.(1429-1431)ttA>ttG	p.L477L	ASUN_ENST00000539625.1_Silent_p.L376L	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	477					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TAACACTGGCTAATGGAACTA	0.289																																						ENST00000261191.7																			0											c.(1429-1431)ttA>ttG		asunder spermatogenesis regulator							71	71	71					12																	27067050		2203	4294	6497	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27067050T>C	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1431A>G	12.37:g.27067050T>C						ASUN_ENST00000539625.1_Silent_p.L376L	p.L477L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			13	1967	-			477					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.1431A>G	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.057|8.057	0.767284|0.767284	0.15983|0.15983	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000542392|ENST00000536232	.|.	.|.	.|.	5.37|5.37	4.22|4.22	0.49857|0.49857	.|.	.|.	.|.	.|.	.|.	T|.	0.57607|.	0.2065|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53739|.	-0.8396|.	4|.	.|.	.|.	.|.	-8.914|-8.914	7.6002|7.6002	0.28071|0.28071	0.0:0.0721:0.1401:0.7879|0.0:0.0721:0.1401:0.7879	.|.	.|.	.|.	.|.	G|W	191|130	.|.	.|.	S|X	-|-	1|2	0|0	C12orf11|C12orf11	26958317|26958317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.394000|2.394000	0.44450|0.44450	0.958000|0.958000	0.37956|0.37956	0.482000|0.482000	0.46254|0.46254	AGC|TAG		0.289	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		3	43	0	0	0	1	0	3	43					C	27067050	T	C	27067050	2	2	144	1	0	0	0	0	0	0	0	1	1675	1519	53	4		4	C12orf11	12	27067050	Silent	SNP	T	TCGA-WB-A80L-01A-11D-A35I-08		27067050	106784845	5	2565										
MUC16	94025	broad.mit.edu	37	chr19	8999459	8999459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgatgctgtgggtcagctgGctcagctcccagtatagctg	14	10	2	1			TCGA-WB-A80L-01A-11D-A35I-08	TCGA-WB-A80L-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af3804b-6214-4d23-ba0a-3b5d8f3243fd	4eec4f36-189f-462a-bcd1-462b39b578b2	g.chr19:8999459G>C	ENST00000397910.4	-	56	40919	c.40716C>G	c.(40714-40716)agC>agG	p.S13572R	MUC16_ENST00000380951.5_Missense_Mutation_p.S213R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13574	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGCTGGCTCAGCTCCC	0.567																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40714-40716)agC>agG		mucin 16, cell surface associated							210	178	188					19																	8999459		2053	4202	6255	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999459G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40716C>G	19.37:g.8999459G>C	ENSP00000381008:p.Ser13572Arg					MUC16_ENST00000380951.5_Missense_Mutation_p.S213R	p.S13572R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			56	40919	-			13574	Missing (in Ref. 3; AAK74120).		SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40716C>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.964|9.964	1.223722|1.223722	0.22457|0.22457	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.35789	.|1.29;1.29	3.48|3.48	1.2|1.2	0.21068|0.21068	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.56499|0.56499	0.1989|0.1989	M|M	0.88842|0.88842	2.985|2.985	.|.	.|.	.|.	.|P;D	.|0.54207	.|0.863;0.965	.|B;D	.|0.63957	.|0.431;0.92	T|T	0.61133|0.61133	-0.7124|-0.7124	4|8	.|0.72032	.|D	.|0.01	-5.4046|-5.4046	3.8451|3.8451	0.08931|0.08931	0.1344:0.0:0.6161:0.2495|0.1344:0.0:0.6161:0.2495	.|.	.|21217;13572	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	G|R	412|13572;213	.|ENSP00000381008:S13572R;ENSP00000370338:S213R	.|ENSP00000370338:S213R	A|S	-|-	2|3	0|2	MUC16|MUC16	8860459|8860459	0.004000|0.004000	0.15560|0.15560	0.435000|0.435000	0.26784|0.26784	0.209000|0.209000	0.24338|0.24338	0.368000|0.368000	0.20399|0.20399	0.249000|0.249000	0.21456|0.21456	0.555000|0.555000	0.69702|0.69702	GCC|AGC		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	263	0	0	0	1	0	4	263					C	8999459	G	C	8999459	3	2	144	1	0	0	0	0	1	0	0	0	9973	1194	42	5	2923	5	MUC16	19	8999459	Missense_Mutation	SNP	G	TCGA-WB-A80L-01A-11D-A35I-08		8999459	50129524	6	2566										
CSDE1	7812	broad.mit.edu	37	chr1	115267956	115267956	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	aacatcaccagagaactcacTaaggagaaaggaaatgacat	8	8	2	3			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr1:115267956T>A	ENST00000358528.4	-	15	2067		c.e15-2		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000438362.2_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACTCACTAAGGAGAAAG	0.403																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e15-2		cold shock domain containing E1, RNA-binding							147	138	141					1																	115267956		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115267956T>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1641-2A>T	1.37:g.115267956T>A						CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site		NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2157	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37		CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350445	0.82132	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8019	0.78458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSDE1	115069479	1.000000	0.71417	0.923000	0.36655	0.970000	0.65996	7.320000	0.79064	2.133000	0.65898	0.455000	0.32223	.		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Intron	50	17	0	0	0	1	0	50	17					A	115267956	T	A	115267956	5	1	145	1	0	0	0	0	0	0	1	0	3929	1536	53	5	781	5	CSDE1	1	115267956	Splice_Site	SNP	T	TCGA-WB-A80M-01A-11D-A35I-08		115267956	133982665	1	2567										
PLCL1	5334	broad.mit.edu	37	chr2	198950399	198950399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	gcattctacctggggtgtctCctctagctcttcatatcaag	8	12	6	0			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr2:198950399C>T	ENST00000428675.1	+	2	2556	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	720	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGGGTGTCTCCTCTAGCTCT	0.448																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2158-2160)Cct>Tct		phospholipase C-like 1	Quinacrine(DB01103)						76	78	77					2																	198950399		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950399C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2158C>T	2.37:g.198950399C>T	ENSP00000402861:p.Pro720Ser					PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S	p.P720S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2556	+			720			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2158C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626287	0.66901	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18810	2.19;2.21	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000006	T	0.43809	0.1264	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	T	0.06570	-1.0819	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	720;646	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	720;622	ENSP00000402861:P720S;ENSP00000414138:P622S	.	P	+	1	0	PLCL1	198658644	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	CCT		0.448	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		37	51	0	0	0	1	0	37	51					T	198950399	C	T	198950399	3	4	145	1	0	0	0	0	1	0	0	0	12039	855	30	3	2164	3	PLCL1	2	198950399	Missense_Mutation	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08		198950399	44248974	2	2568										
ZFYVE28	57732	broad.mit.edu	37	chr4	2306616	2306616	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	agccgtccaggtgcagccgcGagtccaggcagctgcaggag	16	13	0	0	rs377484299		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:2306616G>T	ENST00000290974.2	-	8	1790	c.1451C>A	c.(1450-1452)tCg>tAg	p.S484*	ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414*|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	484					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGCAGCCGCGAGTCCAGGCA	0.662																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1450-1452)tCg>tAg		zinc finger, FYVE domain containing 28							39	41	40					4																	2306616		2123	4160	6283	SO:0001587	stop_gained	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306616G>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1451C>A	4.37:g.2306616G>T	ENSP00000290974:p.Ser484*					RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414*	p.S484*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1790	-			484					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Nonsense_Mutation	SNP	ENST00000290974.2	37	c.1451C>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	37	6.326430	0.97476	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	.	.	.	4.4	3.53	0.40419	.	0.721171	0.13644	N	0.372798	.	.	.	.	.	.	0.39274	D	0.964442	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3809	0.60766	0.0:0.1592:0.8408:0.0	.	.	.	.	X	484;454;414	.	ENSP00000290974:S484X	S	-	2	0	ZFYVE28	2276414	0.464000	0.25807	0.169000	0.22859	0.198000	0.23893	2.716000	0.47219	1.030000	0.39839	0.405000	0.27470	TCG		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		3	57	1	0	1	1	1	3	57					T	2306616	G	T	2306616	4	4	145	1	0	0	0	0	0	1	0	0	17667	1059	37	5	1236	5	ZFYVE28	4	2306616	Nonsense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		2306616	188847660	3	2569										
WDFY3	23001	broad.mit.edu	37	chr4	85636525	85636525	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	ccatctccagagaaaacttcCacagcaataggctgaaatga	7	11	1	3			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:85636525C>A	ENST00000295888.4	-	50	8294	c.7887G>T	c.(7885-7887)gtG>gtT	p.V2629V	WDFY3_ENST00000322366.6_Silent_p.V2612V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2629	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAAACTTCCACAGCAATAG	0.318																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7834-7836)gtG>gtT		WD repeat and FYVE domain containing 3							78	83	81					4																	85636525		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85636525C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7887G>T	4.37:g.85636525C>A						WDFY3_ENST00000295888.4_Silent_p.V2629V	p.V2612V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	49	8243	-		Hepatocellular(203;0.114)	2629					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7836G>T	CCDS3609.1																																																																																				0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		26	26	1	0	2.27525e-19	1	2.37867e-19	26	26					A	85636525	C	A	85636525	2	1	145	1	0	0	0	0	0	0	0	1	17267	581	21	5		5	WDFY3	4	85636525	Silent	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08	83329909	85636525	105517751	4	2570										
CYP2U1	113612	broad.mit.edu	37	chr4	108866589	108866589	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	gagaaccctcaggacttcatAgacatgtaccttctccacat	6	13	3	2			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:108866589A>T	ENST00000332884.6	+	2	1229	c.954A>T	c.(952-954)atA>atT	p.I318I	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.I109I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	318					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AGGACTTCATAGACATGTACC	0.348																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(952-954)atA>atT		cytochrome P450, family 2, subfamily U, polypeptide 1							66	66	66					4																	108866589		2203	4300	6503	SO:0001819	synonymous_variant	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866589A>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.954A>T	4.37:g.108866589A>T						RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.I109I	p.I318I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1229	+		Hepatocellular(203;0.217)	318					B2RMV7|Q96EQ6	Silent	SNP	ENST00000332884.6	37	c.954A>T	CCDS34047.1																																																																																				0.348	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	51	0	0	0	1	0	4	51					T	108866589	A	T	108866589	2	4	145	1	0	0	0	0	0	0	0	1	4175	410	15	5		5	CYP2U1	4	108866589	Silent	SNP	A	TCGA-WB-A80M-01A-11D-A35I-08	23230064	108866589	82287687	5	2571										
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	15	2	0			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196	180	186					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			4	222	0	0	0	1	0	4	222					C	139266690	T	C	139266690	3	2	145	1	0	0	0	0	1	0	0	0	13228	1609	56	4	2040	4	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-WB-A80M-01A-11D-A35I-08		139266690	31848377	6	2572										
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	8e-04	0	5008	,	,		16715	0		0	False		,,,				2504	0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	144	0	0	0	1	0	5	144					G	72398976	A	G	72398976	3	3	145	1	0	0	0	0	1	0	0	0	12239	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-WB-A80M-01A-11D-A35I-08		72398976	86739687	7	2573										
PODXL	5420	broad.mit.edu	37	chr7	131241096	131241096	+	Frame_Shift_Del	DEL	G	G	-													0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	acaacagtagcagcagcgccGagagcgccagcgcgcagcgc							TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr7:131241096delG	ENST00000378555.3	-	1	270	c.23delC	c.(22-24)tcgfs	p.S8fs	PODXL_ENST00000537928.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000541194.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000322985.9_Frame_Shift_Del_p.S8fs|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	8					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CAGCAGCGCCGAGAGCGCCAG	0.741																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(22-24)tgfs		podocalyxin-like							6	9	8					7																	131241096		2044	4049	6093	SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241096delG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.23delC	7.37:g.131241096delG	ENSP00000367817:p.Ser8fs					PODXL_ENST00000322985.9_Frame_Shift_Del_p.S8fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_Frame_Shift_Del_p.S8fs	p.S8fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	280	-	Melanoma(18;0.162)		8					A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Del	DEL	ENST00000378555.3	37	c.23delC	CCDS34755.1																																																																																				0.741	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		2	4						2	4	---	---	---	---	-	131241096	G	-	131241096	7	5	145	1	0	1	0	1	0	0	0	0	12180	1059	37	0	1689	0	PODXL	7	131241096	Frame_Shift_Del	DEL	G	TCGA-WB-A80M-01A-11D-A35I-08	58842120	131241096	27897567	8	2574										
OMD	4958	broad.mit.edu	37	chr9	95179741	95179741	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	ttggtaatcatcatctggctCttggtcatagtcttcatccc	7	11	7	0			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr9:95179741C>G	ENST00000375550.4	-	2	375	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	34					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCATCTGGCTCTTGGTCATAG	0.363			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(100-102)Gag>Cag		osteomodulin							106	94	98					9																	95179741		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179741C>G	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.100G>C	9.37:g.95179741C>G	ENSP00000364700:p.Glu34Gln					CENPP_ENST00000375587.3_Intron	p.E34Q	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	375	-			34					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.100G>C	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.763749	0.49574	.	.	ENSG00000127083	ENST00000375550	T	0.39592	1.07	5.31	5.31	0.75309	.	0.234790	0.33875	N	0.004463	T	0.36936	0.0985	L	0.34521	1.04	0.35412	D	0.792521	B	0.20052	0.041	B	0.19666	0.026	T	0.35871	-0.9771	10	0.37606	T	0.19	-3.8309	18.9612	0.92678	0.0:1.0:0.0:0.0	.	34	Q99983	OMD_HUMAN	Q	34	ENSP00000364700:E34Q	ENSP00000364700:E34Q	E	-	1	0	OMD	94219562	0.996000	0.38824	0.988000	0.46212	0.941000	0.58515	3.255000	0.51484	2.650000	0.89964	0.585000	0.79938	GAG		0.363	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		23	31	0	0	0	1	0	23	31					G	95179741	C	G	95179741	3	3	145	1	0	0	0	0	1	0	0	0	10865	922	32	5	1173	5	OMD	9	95179741	Missense_Mutation	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08		95179741	46033690	9	2575										
OR1J1	347168	broad.mit.edu	37	chr9	125239932	125239932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	aatgcatcccttgtaaaagaCggctaggtgctgagtctgca	11	9	1	2	rs373376555		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr9:125239932C>T	ENST00000259357.2	-	1	303	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGTAAAAGACGGCTAGGTGC	0.423																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(274-276)Gtc>Atc		olfactory receptor, family 1, subfamily J, member 1		T	ILE/VAL	1,4405	826.1+/-416.6	0,1,2202	143	122	129		274	3.3	0	9		129	0,8600		0,0,4300	no	missense	OR1J1	NM_001004451.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	92/323	125239932	1,13005	2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239932C>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.274G>A	9.37:g.125239932C>T	ENSP00000259357:p.Val92Ile						p.V92I	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	303	-			92					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.274G>A	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.999102	0.00435	2.27E-4	0.0	ENSG00000136834	ENST00000259357	T	0.00352	7.95	4.46	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000016	T	0.00039	0.0001	N	0.00025	-2.685	0.22866	N	0.998639	B	0.02656	0.0	B	0.04013	0.001	T	0.40213	-0.9575	10	0.02654	T	1	.	8.4619	0.32934	0.0:0.167:0.0:0.833	.	92	Q8NGS3	OR1J1_HUMAN	I	92	ENSP00000259357:V92I	ENSP00000259357:V92I	V	-	1	0	OR1J1	124279753	0.956000	0.32656	0.021000	0.16686	0.004000	0.04260	2.039000	0.41193	0.339000	0.23719	-0.446000	0.05623	GTC		0.423	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			30	52	0	0	0	1	0	30	52					T	125239932	C	T	125239932	3	4	145	1	0	0	0	0	1	0	0	0	10959	536	19	1	697	1	OR1J1	9	125239932	Missense_Mutation	SNP	C	TCGA-WB-A80M-01A-11D-A35I-08	30060191	125239932	15973499	10	2576										
IFIT3	3437	broad.mit.edu	37	chr10	91099316	91099316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	caggagaatctgaagctagtGgaaataaagagatgattgaa	12	3	1	5			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr10:91099316G>A	ENST00000371818.4	+	2	1084	c.904G>A	c.(904-906)Gga>Aga	p.G302R	IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	302					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGAAGCTAGTGGAAATAAAGA	0.413																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(904-906)Gga>Aga		interferon-induced protein with tetratricopeptide repeats 3							76	69	72					10																	91099316		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099316G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.904G>A	10.37:g.91099316G>A	ENSP00000360883:p.Gly302Arg					LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R|LIPA_ENST00000487618.1_Intron	p.G302R	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	1084	+			302					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.904G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233171	0.22626	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.12879	2.64;2.64	4.06	0.994	0.19832	Tetratricopeptide-like helical (1);	1.203990	0.06292	N	0.699293	T	0.13372	0.0324	N	0.25201	0.72	0.09310	N	1	P	0.35944	0.529	P	0.46585	0.521	T	0.40496	-0.9560	10	0.33141	T	0.24	-1.0059	3.3622	0.07190	0.0854:0.2541:0.4014:0.2591	.	302	O14879	IFIT3_HUMAN	R	302;302;123	ENSP00000360883:G302R;ENSP00000360876:G302R	ENSP00000360876:G302R	G	+	1	0	IFIT3	91089296	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.042000	0.12063	0.219000	0.20840	0.651000	0.88453	GGA		0.413	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		31	17	0	0	0	1	0	31	17					A	91099316	G	A	91099316	3	1	145	1	0	0	0	0	1	0	0	0	7524	1349	47	3	919	3	IFIT3	10	91099316	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		91099316	44435431	11	2577										
ZDHHC24	254359	broad.mit.edu	37	chr11	66307235	66307235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	gcccagccccgcacagcagcGcacccgccacgcacgtgtcc	10	22	0	0			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr11:66307235G>A	ENST00000310442.3	-	3	854	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	207	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCACAGCAGCGCACCCGCCAC	0.647																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(619-621)gCg>gTg		zinc finger, DHHC-type containing 24							25	28	27					11																	66307235		2200	4293	6493	SO:0001583	missense	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307235G>A	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.620C>T	11.37:g.66307235G>A	ENSP00000309429:p.Ala207Val					ZDHHC24_ENST00000526986.1_Intron	p.A207V	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	854	-			207			Leu-rich.		Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	c.620C>T	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129272	0.56721	.	.	ENSG00000174165	ENST00000310442	T	0.22743	1.94	5.25	4.34	0.51931	.	0.253331	0.38897	N	0.001527	T	0.18087	0.0434	L	0.31420	0.93	0.23036	N	0.998394	D	0.56746	0.977	P	0.49047	0.599	T	0.07770	-1.0755	10	0.13853	T	0.58	-9.1857	9.5795	0.39479	0.0967:0.0:0.9033:0.0	.	207	Q6UX98	ZDH24_HUMAN	V	207	ENSP00000309429:A207V	ENSP00000309429:A207V	A	-	2	0	ZDHHC24	66063811	0.997000	0.39634	0.132000	0.22025	0.764000	0.43329	3.843000	0.55865	1.199000	0.43173	0.561000	0.74099	GCG		0.647	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		3	20	0	0	0	1	0	3	20					A	66307235	G	A	66307235	3	1	145	1	0	0	0	0	1	0	0	0	17612	1087	38	1	238	1	ZDHHC24	11	66307235	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		66307235	68699281	12	2578										
ALDH2	217	broad.mit.edu	37	chr12	112204841	112204843	+	In_Frame_Del	DEL	GCC	GCC	-													0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	tgggccgccgcctcttgtcaGccgccgccacccaggccgtg							TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr12:112204841_112204843delGCC	ENST00000261733.2	+	1	116_118	c.55_57delGCC	c.(55-57)gccdel	p.A21del	ALDH2_ENST00000416293.3_In_Frame_Del_p.A21del|RP11-162P23.2_ENST00000546840.2_Intron	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	21					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTCTTGTCAGCCGCCGCCACCC	0.734			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(55-57)del		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)																																			SO:0001651	inframe_deletion	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112204841_112204843delGCC	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.55_57delGCC	12.37:g.112204847_112204849delGCC	ENSP00000261733:p.Ala21del					RP11-162P23.2_ENST00000546840.2_Intron|ALDH2_ENST00000416293.3_In_Frame_Del_p.A21del	p.A21del	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			1	116_118	+			21					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	In_Frame_Del	DEL	ENST00000261733.2	37	c.55_57delGCC	CCDS9155.1																																																																																				0.734	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		2	4						2	4	---	---	---	---	-	112204843	GCC	-	112204841	7	5	145	1	0	1	0	1	0	0	0	0	496	971	34	0	57	0	ALDH2	12	112204841	In_Frame_Del	DEL	GCC	TCGA-WB-A80M-01A-11D-A35I-08		112204841	21647054	13	2579										
ADCY4	196883	broad.mit.edu	37	chr14	24801744	24801744	+	Frame_Shift_Del	DEL	G	G	-													0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	tcacctgcggcagcagtgcaGgccgtgagtccggctgtggc							TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr14:24801744delG	ENST00000310677.4	-	4	616	c.503delC	c.(502-504)cctfs	p.P168fs	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P168fs|RP11-934B9.3_ENST00000555591.1_Frame_Shift_Del_p.A234fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P168fs|ADCY4_ENST00000558563.1_5'Flank	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	168					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCAGTGCAGGCCGTGAGTC	0.662											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(502-504)ctfs		adenylate cyclase 4							16	18	17					14																	24801744		2192	4282	6474	SO:0001589	frameshift_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24801744delG	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.503delC	14.37:g.24801744delG	ENSP00000312126:p.Pro168fs		OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P168fs|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P168fs|RP11-934B9.3_ENST00000555591.1_Frame_Shift_Del_p.A234fs	p.P168fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	4	616	-			168					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	c.503delC	CCDS9627.1																																																																																				0.662	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			2	4						2	4	---	---	---	---	-	24801744	G	-	24801744	7	5	145	1	0	1	0	1	0	0	0	0	296	1000	35	0	2822	0	ADCY4	14	24801744	Frame_Shift_Del	DEL	G	TCGA-WB-A80M-01A-11D-A35I-08		24801744	82547796	14	2580										
GTF2A1	2957	broad.mit.edu	37	chr14	81646632	81646643	+	In_Frame_Del	DEL	CATCCTTGAGAT	CATCCTTGAGAT	-													0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	tccattaagattcataatgcCatccttgagatgaaatttcc							TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr14:81646632_81646643delCATCCTTGAGAT	ENST00000553612.1	-	9	1458_1469	c.1055_1066delATCTCAAGGATG	c.(1054-1068)catctcaaggatggc>cgc	p.352_356HLKDG>R	GTF2A1_ENST00000434192.2_In_Frame_Del_p.313_317HLKDG>R	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	352					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TTCATAATGCCATCCTTGAGATGAAATTTCCA	0.274																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1054-1068)cgc>c		general transcription factor IIA, 1, 19/37kDa																																				SO:0001651	inframe_deletion	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81646632_81646643delCATCCTTGAGAT	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"General transcription factors"	4646	protein-coding gene	gene with protein product		600520	"glucose regulated protein, 58kD pseudogene"			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.1055_1066delATCTCAAGGATG	14.37:g.81646632_81646643delCATCCTTGAGAT	ENSP00000452454:p.His352_Gly356delinsArg					GTF2A1_ENST00000434192.2_In_Frame_Del_p.HLKDG313del	p.HLKDG352del	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	9	1458_1469	-			352					Q3KNQ9	In_Frame_Del	DEL	ENST00000553612.1	37	c.1055_1066delATCTCAAGGATG	CCDS9873.1																																																																																				0.274	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		24	111						24	111	---	---	---	---	-	81646643	CATCCTTGAGAT	-	81646632	7	5	145	1	0	1	0	1	0	0	0	0	6852	594	21	0	68	0	GTF2A1	14	81646632	In_Frame_Del	DEL	CATCCTTGAGAT	TCGA-WB-A80M-01A-11D-A35I-08	56844888	81646632	25702908	15	2581										
MYO18A	399687	broad.mit.edu	37	chr17	27423926	27423927	+	Frame_Shift_Ins	INS	-	-	C													0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	ctcactatctgcctgcaggtINSccccgagctaggggccaaga							TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr17:27423926_27423927insC	ENST00000527372.1	-	28	4417_4418	c.4237_4238insG	c.(4237-4239)gacfs	p.D1413fs	MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.D1413fs|MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.D1413fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.D1413fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1413					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCTGCAGGTCCCCGAGCTAG	0.589																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4237-4239)cctfs		myosin XVIIIA																																				SO:0001589	frameshift_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27423926_27423927insC	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4238dupG	17.37:g.27423930_27423930dupC	ENSP00000437073:p.Asp1413fs					MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.P1413fs	p.P1413fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		28	4417_4418	-			1413					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Frame_Shift_Ins	INS	ENST00000527372.1	37	c.4237_4238insG	CCDS45642.1																																																																																				0.589	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		2	4						2	4	---	---	---	---	C	27423927	-	C	27423926	7	5	145	1	0	1	1	0	0	0	0	0	10065	1667	58	0	1986	0	MYO18A	17	27423926	Frame_Shift_Ins	INS	-	TCGA-WB-A80M-01A-11D-A35I-08		27423926	53771284	16	2582										
MRI1	84245	broad.mit.edu	37	chr19	13879776	13879776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	cagctcttcatgtgacctccGtctggagaccggcaaggaga	12	12	3	3	rs201162998		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr19:13879776G>A	ENST00000040663.6	+	5	903	c.863G>A	c.(862-864)cGt>cAt	p.R288H	MRI1_ENST00000319545.8_Missense_Mutation_p.R241H	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGTGACCTCCGTCTGGAGACC	0.592																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(721-723)cGt>cAt		methylthioribose-1-phosphate isomerase 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74	58	63		863,722	-3.9	0	19		63	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MRI1	NM_001031727.2,NM_032285.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	288/370,241/323	13879776	1,13005	2203	4300	6503	SO:0001583	missense	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13879776G>A		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.863G>A	19.37:g.13879776G>A	ENSP00000040663:p.Arg288His					MRI1_ENST00000040663.6_Missense_Mutation_p.R288H	p.R241H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			5	779	+			288						Missense_Mutation	SNP	ENST00000040663.6	37	c.722G>A	CCDS32923.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982829	0.34942	0.0	1.16E-4	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.93247	-3.19;-3.19	5.38	-3.91	0.04168	.	0.290162	0.41097	N	0.000945	D	0.85035	0.5605	N	0.25647	0.755	0.20563	N	0.999887	B;B	0.25007	0.116;0.001	B;B	0.22880	0.042;0.001	T	0.71889	-0.4456	10	0.42905	T	0.14	-19.7313	10.9801	0.47488	0.4903:0.0:0.5097:0.0	.	241;288	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	H	288;241	ENSP00000040663:R288H;ENSP00000314871:R241H	ENSP00000040663:R288H	R	+	2	0	MRI1	13740776	0.196000	0.23350	0.008000	0.14137	0.572000	0.35998	0.384000	0.20668	-0.873000	0.04032	-0.424000	0.05967	CGT		0.592	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285		17	13	0	0	0	1	0	17	13					A	13879776	G	A	13879776	3	1	145	1	0	0	0	0	1	0	0	0	9770	1145	40	1	974	1	MRI1	19	13879776	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		13879776	45249207	17	2583										
CDC45	8318	broad.mit.edu	37	chr22	19471512	19471512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	gtcagagccttctgagaagcGcacacggttagaagaggtga	14	8	2	5			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr22:19471512G>A	ENST00000407835.1	+	6	726	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	157					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTGAGAAGCGCACACGGTTA	0.532																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(469-471)cGc>cAc		cell division cycle 45							115	100	105					22																	19471512		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19471512G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.470G>A	22.37:g.19471512G>A	ENSP00000385240:p.Arg157His					CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H	p.R157H			O75419	CDC45_HUMAN			6	726	+			157					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.470G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513468	0.96402	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T;T	0.25912	2.0;2.0;1.95;2.0;1.77	5.68	5.68	0.88126	.	0.054321	0.64402	D	0.000001	T	0.58595	0.2133	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.99;0.992;0.99;0.99;0.99	T	0.63409	-0.6644	10	0.72032	D	0.01	-12.3749	19.7974	0.96491	0.0:0.0:1.0:0.0	.	157;152;111;157;157	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	H	157;145;157;157;111	ENSP00000385240:R157H;ENSP00000397434:R145H;ENSP00000405726:R157H;ENSP00000263201:R157H;ENSP00000384978:R111H	ENSP00000263201:R157H	R	+	2	0	CDC45	17851512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.673000	0.90976	0.650000	0.86243	CGC		0.532	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		3	54	0	0	0	1	0	3	54					A	19471512	G	A	19471512	3	1	145	1	0	0	0	0	1	0	0	0	3081	1087	38	1	488	1	CDC45	22	19471512	Missense_Mutation	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08		19471512	31833054	18	2584										
TUBGCP6	85378	broad.mit.edu	37	chr22	50659143	50659143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	1	1	0.688636363636364	5.50909090909091	0	1	1	0	ctggtgtcagacacatgtccGtgggtgttccaccgtggccg	14	12	1	1			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr22:50659143G>A	ENST00000248846.5	-	16	3749	c.3645C>T	c.(3643-3645)caC>caT	p.H1215H	TUBGCP6_ENST00000439308.2_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1215	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACACATGTCCGTGGGTGTTCC	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3643-3645)caC>caT		tubulin, gamma complex associated protein 6							76	67	70					22																	50659143		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659143G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3645C>T	22.37:g.50659143G>A						TUBGCP6_ENST00000248846.5_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR	p.H1215H	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4137	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1215			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3645C>T	CCDS14087.1																																																																																				0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	55	0	0	0	1	0	3	55					A	50659143	G	A	50659143	2	1	145	1	0	0	0	0	0	0	0	1	16767	1136	40	1		1	TUBGCP6	22	50659143	Silent	SNP	G	TCGA-WB-A80M-01A-11D-A35I-08	31187631	50659143	645423	19	2585										
OBSCN	84033	broad.mit.edu	37	chr1	228526563	228526563	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	ctcctgcccagctctgtgatCcaggagctgctgagttctga							TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr1:228526563delC	ENST00000422127.1	+	69	17138	c.17094delC	c.(17092-17094)atcfs	p.I5698fs	OBSCN_ENST00000284548.11_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.I3332fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.I2817fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.I6655fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5698	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTCTGTGATCCAGGAGCTGC	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19963-19965)atfs		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF																																				SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228526563delC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17094delC	1.37:g.228526563delC	ENSP00000409493:p.Ile5698fs					OBSCN_ENST00000422127.1_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.I3332fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.I2817fs	p.I6655fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			80	20039	+		Prostate(94;0.0405)	5698			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	c.19965delC	CCDS58065.1																																																																																				0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		2	4						2	4	---	---	---	---	-	228526563	C	-	228526563	7	5	146	1	0	1	0	1	0	0	0	0	10812	845	30	0	17364	0	OBSCN	1	228526563	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08		228526563	20724058	1	2586										
ERCC3	2071	broad.mit.edu	37	chr2	128050376	128050376	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccaagaagtcttgggcatatTtgtaaactggagagaaggct	12	6	1	2			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr2:128050376T>C	ENST00000285398.2	-	3	375	c.281A>G	c.(280-282)aAa>aGa	p.K94R	ERCC3_ENST00000493187.2_Missense_Mutation_p.K30R	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	94					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGGGCATATTTGTAAACTGG	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(88-90)aAa>aGa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							77	73	74					2																	128050376		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050376T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"General transcription factors", "General transcription factor IIH complex subunits"	3435	protein-coding gene	gene with protein product	"xeroderma pigmentosum group B complementing"	133510	"excision repair cross-complementing rodent repair deficiency, complementation group 3"			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.281A>G	2.37:g.128050376T>C	ENSP00000285398:p.Lys94Arg					ERCC3_ENST00000285398.2_Missense_Mutation_p.K94R	p.K30R			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	552	-	Colorectal(110;0.1)		94					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.89A>G	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.850666	0.51270	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.72394	-0.65;-0.65	4.77	3.61	0.41365	.	0.051485	0.85682	N	0.000000	T	0.69296	0.3095	M	0.73962	2.25	0.80722	D	1	B	0.09022	0.002	B	0.23852	0.049	T	0.66260	-0.5968	10	0.48119	T	0.1	-16.4107	10.443	0.44477	0.0:0.0769:0.0:0.9231	.	94	P19447	ERCC3_HUMAN	R	94;30	ENSP00000285398:K94R;ENSP00000444796:K30R	ENSP00000285398:K94R	K	-	2	0	ERCC3	127766846	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.028000	0.64115	0.846000	0.35142	-0.297000	0.09499	AAA		0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		17	43	0	0	0	1	0	17	43					C	128050376	T	C	128050376	3	2	146	1	0	0	0	0	1	0	0	0	5214	1841	64	4	2119	4	ERCC3	2	128050376	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08		128050376	115148997	2	2587										
LRRN1	57633	broad.mit.edu	37	chr3	3888472	3888472	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atccagaagctattacatgtGgtaactcagaggatattttg	9	6	1	2			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:3888472G>T	ENST00000319331.3	+	2	2908	c.2147G>T	c.(2146-2148)tGg>tTg	p.W716L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	716						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TATTACATGTGGTAACTCAGA	0.423																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(2146-2148)tGg>tTg		leucine rich repeat neuronal 1							49	52	51					3																	3888472		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888472G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2147G>T	3.37:g.3888472G>T	ENSP00000314901:p.Trp716Leu					SUMF1_ENST00000534863.1_Intron	p.W716L	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2908	+			716					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.2147G>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380575	0.61845	.	.	ENSG00000175928	ENST00000319331	T	0.59083	0.29	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.62723	1.935	0.53688	D	0.999977	D	0.89917	1.0	D	0.83275	0.996	T	0.75184	-0.3407	10	0.87932	D	0	.	15.4639	0.75384	0.0672:0.0:0.9328:0.0	.	716	Q6UXK5	LRRN1_HUMAN	L	716	ENSP00000314901:W716L	ENSP00000314901:W716L	W	+	2	0	LRRN1	3863472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.934000	0.87649	2.788000	0.95919	0.650000	0.86243	TGG		0.423	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		4	23	1	0	0.00024832	1	0.00024832	4	23					T	3888472	G	T	3888472	3	4	146	1	0	0	0	0	1	0	0	0	9034	1357	47	5	2149	5	LRRN1	3	3888472	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		3888472	194133958	3	2588										
HHATL	57467	broad.mit.edu	37	chr3	42741312	42741312	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	ccggaaggccttcctgtgggCcccatctgagaacagagtgt					rs369606015		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:42741312delC	ENST00000441594.1	-	3	373	c.112delG	c.(112-114)gccfs	p.A38fs	HHATL-AS1_ENST00000600839.1_RNA|HHATL_ENST00000310417.5_Frame_Shift_Del_p.A38fs|HHATL-AS1_ENST00000423165.1_RNA	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	38					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TTCCTGTGGGCCCCATCTGAG	0.662																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(112-114)ccfs		hedgehog acyltransferase-like							31	25	27					3																	42741312		2188	4273	6461	SO:0001589	frameshift_variant	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42741312delC	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.112delG	3.37:g.42741312delC	ENSP00000405423:p.Ala38fs					HHATL_ENST00000310417.5_Frame_Shift_Del_p.A38fs	p.A38fs	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	3	373	-			38					Q8TBG3|Q9ULP7	Frame_Shift_Del	DEL	ENST00000441594.1	37	c.112delG	CCDS2704.1																																																																																				0.662	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		2	4						2	4	---	---	---	---	-	42741312	C	-	42741312	7	5	146	1	0	1	0	1	0	0	0	0	7090	739	26	0	1442	0	HHATL	3	42741312	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08	38852840	42741312	155281118	4	2589										
IP6K1	9807	broad.mit.edu	37	chr3	49775711	49775711	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactgccactgcctgaccggTgcaggctccggcgggagtgt	15	14	0	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:49775711T>C	ENST00000321599.4	-	3	669	c.368A>G	c.(367-369)cAc>cGc	p.H123R	IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.H123R|IP6K1_ENST00000395238.1_5'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	123					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCCTGACCGGTGCAGGCTCCG	0.552																																						ENST00000321599.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(367-369)cAc>cGc		inositol hexakisphosphate kinase 1							133	109	117					3																	49775711		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49775711T>C	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"inositol hexaphosphate kinase 1"	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.368A>G	3.37:g.49775711T>C	ENSP00000323780:p.His123Arg					IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.H123R|IP6K1_ENST00000395238.1_5'UTR	p.H123R	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN			3	669	-			123					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.368A>G	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348738	0.41599	.	.	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.46451	0.87;0.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.40543	1.245	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.14337	-1.0476	10	0.16420	T	0.52	-26.9251	16.3756	0.83387	0.0:0.0:0.0:1.0	.	123;123	C9JNA8;Q92551	.;IP6K1_HUMAN	R	123	ENSP00000323780:H123R;ENSP00000420467:H123R	ENSP00000323780:H123R	H	-	2	0	IP6K1	49750715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.821000	0.69257	2.270000	0.75569	0.460000	0.39030	CAC		0.552	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		4	55	0	0	0	1	0	4	55					C	49775711	T	C	49775711	3	2	146	1	0	0	0	0	1	0	0	0	7788	1696	59	4	973	4	IP6K1	3	49775711	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08	7034399	49775711	148246719	5	2590										
FOXP1	27086	broad.mit.edu	37	chr3	71096155	71096155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaattgtcagaaggccttggCgctgcaaagacaggaggtgc	15	8	1	2			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:71096155C>T	ENST00000318789.4	-	10	1127	c.602G>A	c.(601-603)cGc>cAc	p.R201H	FOXP1_ENST00000493089.1_Missense_Mutation_p.R201H|FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000472382.1_5'UTR	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	201	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AAGGCCTTGGCGCTGCAAAGA	0.527			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(601-603)cGc>cAc		forkhead box P1							144	145	144					3																	71096155		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096155C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.602G>A	3.37:g.71096155C>T	ENSP00000318902:p.Arg201His					FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H|FOXP1_ENST00000493089.1_Missense_Mutation_p.R201H	p.R201H	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1127	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	201			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.602G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384614	0.95967	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.44482	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;0.92	6.03	6.03	0.97812	.	0.236203	0.49916	D	0.000132	T	0.66674	0.2813	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.77004	0.989;0.984;0.964;0.964	T	0.64364	-0.6425	10	0.52906	T	0.07	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	200;201;125;201	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	H	201;101;201;201;97;203;201;201;125;201;101;101	ENSP00000318902:R201H;ENSP00000419393:R201H;ENSP00000418225:R97H;ENSP00000420736:R203H;ENSP00000418524:R201H;ENSP00000418102:R201H;ENSP00000417857:R125H;ENSP00000418883:R201H;ENSP00000417941:R101H;ENSP00000418784:R101H	ENSP00000318902:R201H	R	-	2	0	FOXP1	71178845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.057000	0.76669	2.854000	0.98071	0.655000	0.94253	CGC		0.527	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		4	184	0	0	0	1	0	4	184					T	71096155	C	T	71096155	3	4	146	1	0	0	0	0	1	0	0	0	6026	768	27	1	1479	1	FOXP1	3	71096155	Missense_Mutation	SNP	C	TCGA-WB-A80N-01A-11D-A35I-08	21320444	71096155	126926275	6	2591										
IL21	59067	broad.mit.edu	37	chr4	123542015	123542015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttaccaagtcattcacataaTttttcagctgatcaacaata	3	9	4	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr4:123542015T>G	ENST00000264497.3	-	1	209	c.152A>C	c.(151-153)aAt>aCt	p.N51T	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	44					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATTCACATAATTTTTCAGCTG	0.338																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(151-153)aAt>aCt		interleukin 21							106	105	105					4																	123542015		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542015T>G	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.152A>C	4.37:g.123542015T>G	ENSP00000264497:p.Asn51Thr					IL21-AS1_ENST00000417927.1_RNA	p.N51T	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	209	-			44					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.152A>C	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	9.370	1.070280	0.20147	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-0.0293	0.13918	.	0.576020	0.16688	N	0.203643	T	0.27765	0.0683	L	0.51422	1.61	0.20638	N	0.999876	B;B	0.06786	0.001;0.001	B;B	0.12837	0.005;0.008	T	0.13899	-1.0492	9	0.18710	T	0.47	-0.0805	2.7492	0.05275	0.1146:0.1923:0.1121:0.581	.	44;44	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	T	51	.	ENSP00000264497:N51T	N	-	2	0	IL21	123761465	0.005000	0.15991	0.996000	0.52242	0.992000	0.81027	0.041000	0.13927	0.364000	0.24374	0.533000	0.62120	AAT		0.338	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		36	47	0	0	0	1	0	36	47					G	123542015	T	G	123542015	3	3	146	1	0	0	0	0	1	0	0	0	7670	1493	52	5	356	5	IL21	4	123542015	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08		123542015	67612261	7	2592										
SORBS2	8470	broad.mit.edu	37	chr4	186544636	186544636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggcggtggtggtggtggtgGtgatggtggtggtggtggct	25	2	0	1	rs267600109		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr4:186544636G>A	ENST00000284776.7	-	13	2444	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000431808.1_Silent_p.H645H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	645	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.H645H(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtggtgatggtggt	0.527																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - coding silent(1)	p.H645H(1)	endometrium(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1933-1935)caC>caT		sorbin and SH3 domain containing 2							54	54	54					4																	186544636		2202	4300	6502	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544636G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1935C>T	4.37:g.186544636G>A						SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.H645H|SORBS2_ENST00000498125.1_Intron	p.H645H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2498	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	645			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1935C>T	CCDS3845.1																																																																																				0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	63	0	0	0	1	0	4	63					A	186544636	G	A	186544636	2	1	146	1	0	0	0	0	0	0	0	1	14928	1252	44	3		3	SORBS2	4	186544636	Silent	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	63002621	186544636	4609640	8	2593										
ZNF311	282890	broad.mit.edu	37	chr6	28963545	28963545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gctgcactcataaggtcgttCcccagtgtggattcttatgt	10	10	2	0			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr6:28963545C>T	ENST00000377179.3	-	7	1746	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TAAGGTCGTTCCCCAGTGTGG	0.512																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1234-1236)Gaa>Aaa		zinc finger protein 311							87	82	84					6																	28963545		1510	2709	4219	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963545C>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1234G>A	6.37:g.28963545C>T	ENSP00000366384:p.Glu412Lys					ZNF311_ENST00000483450.1_5'UTR	p.E412K	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1746	-			412					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1234G>A	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109059	0.77096	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.24350	1.86	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28300	0.0699	L	0.33668	1.02	0.39140	D	0.962017	D	0.89917	1.0	D	0.91635	0.999	T	0.06588	-1.0818	9	0.54805	T	0.06	-16.3737	13.4785	0.61322	0.0:1.0:0.0:0.0	.	412	Q5JNZ3	ZN311_HUMAN	K	412;320	ENSP00000366384:E412K	ENSP00000366384:E412K	E	-	1	0	ZNF311	29071524	1.000000	0.71417	0.698000	0.30274	0.589000	0.36550	4.812000	0.62613	1.928000	0.55862	0.585000	0.79938	GAA		0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		9	71	0	0	0	1	0	9	71					T	28963545	C	T	28963545	3	4	146	1	0	0	0	0	1	0	0	0	17831	864	30	3	770	3	ZNF311	6	28963545	Missense_Mutation	SNP	C	TCGA-WB-A80N-01A-11D-A35I-08		28963545	142151522	9	2594										
NT5C3	51251	broad.mit.edu	37	chr7	33057052	33057052	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacgatttgatattcttacaGtttcatcaaaatccataaaa	3	7	3	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:33057052G>A	ENST00000242210.7	-	7	783	c.707C>T	c.(706-708)aCt>aTt	p.T236I	NT5C3A_ENST00000405342.1_Splice_Site_p.T197I|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Splice_Site_p.T185I|NT5C3A_ENST00000610140.1_Splice_Site_p.T231I|NT5C3A_ENST00000381626.2_Splice_Site_p.T185I|NT5C3A_ENST00000409787.1_Missense_Mutation_p.T197I|NT5C3A_ENST00000396152.2_Splice_Site_p.T197I	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	236					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TATTCTTACAGTTTCATCAAA	0.294																																						ENST00000409787.1																			0											c.(589-591)aCt>aTt		5'-nucleotidase, cytosolic IIIA							54	52	53					7																	33057052		2203	4300	6503	SO:0001630	splice_region_variant	51251							g.chr7:33057052G>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"lupin"	606224	"5'-nucleotidase, cytosolic III"	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.708+1C>T	7.37:g.33057052G>A						NT5C3A_ENST00000405342.1_Splice_Site_p.T197_splice|NT5C3A_ENST00000396152.2_Splice_Site_p.T197_splice|NT5C3A_ENST00000381626.2_Splice_Site_p.T185_splice|NT5C3A_ENST00000409467.1_Splice_Site_p.T185_splice|NT5C3A_ENST00000242210.7_Splice_Site_p.T236_splice|AVL9_ENST00000404479.1_Intron	p.T197I							7	603	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.590C>T	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021096	0.35701	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.15	4.0	0.46444	HAD-like domain (2);	0.099979	0.64402	D	0.000003	T	0.78483	0.4290	L	0.29908	0.895	0.09310	N	0.999993	P;B	0.43477	0.808;0.268	P;B	0.46362	0.514;0.103	T	0.71189	-0.4666	10	0.72032	D	0.01	.	12.0457	0.53479	0.0:0.0:0.1513:0.8487	.	236;197	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	I	185;197;236;197;185;197	ENSP00000371039:T185I;ENSP00000379456:T197I;ENSP00000242210:T236I;ENSP00000385261:T197I;ENSP00000387166:T185I;ENSP00000387205:T197I	ENSP00000242210:T236I	T	-	2	0	NT5C3	33023577	0.247000	0.23920	0.996000	0.52242	0.928000	0.56348	0.794000	0.26958	0.812000	0.34326	-0.262000	0.10625	ACT		0.294	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	Missense_Mutation	26	42	0	0	0	1	0	26	42					A	33057052	G	A	33057052	5	1	146	1	0	0	0	0	0	0	1	0	10688	1043	36	3	315	3	NT5C3	7	33057052	Splice_Site	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		33057052	126081611	10	2595										
MUC17	140453	broad.mit.edu	37	chr7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agtggccagttctgaggctgGcaccctttcaacaactcctg	10	13	2	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:100683180G>A	ENST00000306151.4	+	3	8547	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2828	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACCCTTTCA	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8482-8484)gGc>gAc		mucin 17, cell surface associated							242	250	247					7																	100683180		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683180G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8483G>A	7.37:g.100683180G>A	ENSP00000302716:p.Gly2828Asp						p.G2828D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8547	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2828			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8483G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203649	0.09704	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	0.911	-0.0885	0.13673	.	.	.	.	.	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.42515	-0.9447	9	0.27082	T	0.32	.	3.9399	0.09323	0.4823:0.0:0.5177:0.0	.	2828	Q685J3	MUC17_HUMAN	D	2828	ENSP00000302716:G2828D	ENSP00000302716:G2828D	G	+	2	0	MUC17	100469900	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.278000	0.08490	-0.037000	0.13646	0.134000	0.15878	GGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	388	0	0	0	1	0	5	388					A	100683180	G	A	100683180	3	1	146	1	0	0	0	0	1	0	0	0	9974	1203	42	3	8493	3	MUC17	7	100683180	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	67626128	100683180	58455483	11	2596										
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	68	0	0	0	1	0	4	68					G	114269973	A	G	114269973	2	3	146	1	0	0	0	0	0	0	0	1	6027	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-WB-A80N-01A-11D-A35I-08	13586793	114269973	44868690	12	2597										
GRIN1	2902	broad.mit.edu	37	chr9	140056433	140056433	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	tgggcgagctgctcagcgggCaggcagacatgatcgtggcg							TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr9:140056433delC	ENST00000371561.3	+	11	2622	c.1525delC	c.(1525-1527)cagfs	p.Q509fs	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371553.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000315048.3_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371559.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371560.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000350902.5_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.Q509fs	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	509					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTCAGCGGGCAGGCAGACAT	0.592																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1525-1527)agfs		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						41	33	36					9																	140056433		2178	4263	6441	SO:0001589	frameshift_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056433delC		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1525delC	9.37:g.140056433delC	ENSP00000360616:p.Gln509fs					GRIN1_ENST00000371560.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000350902.5_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000315048.3_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371559.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371553.3_Frame_Shift_Del_p.Q530fs	p.Q509fs	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	11	2622	+	all_cancers(76;0.0926)		509					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Frame_Shift_Del	DEL	ENST00000371561.3	37	c.1525delC	CCDS7031.1																																																																																				0.592	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		2	4						2	4	---	---	---	---	-	140056433	C	-	140056433	7	5	146	1	0	1	0	1	0	0	0	0	6778	711	25	0	1634	0	GRIN1	9	140056433	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08		140056433	1156998	13	2598										
SEC61A2	11164	broad.mit.edu	37	chr10	12211282	12211282	+	Intron	DEL	A	A	-													0	0	1	0	0	0	1	1	0	aagtgaagttaagaaggtggAagggagaaggaagacatttt							TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr10:12211282delA	ENST00000491614.1	-	9	946				SEC61A2_ENST00000304267.8_Frame_Shift_Del_p.K424fs|NUDT5_ENST00000378952.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378937.3_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5						D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				AAGAAGGTGGAAGGGAGAAGG	0.443																																						ENST00000304267.8																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1270-1272)agfs		Sec61 alpha 2 subunit (S. cerevisiae)							58	48	51					10																	12211282		1556	3538	5094	SO:0001627	intron_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12211282delA	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.550+1433T>-	10.37:g.12211282delA						NUDT5_ENST00000491614.1_Intron|NUDT5_ENST00000378937.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_Intron	p.K424fs	NM_001142627.1	NP_001136099.1	Q9H9S3	S61A2_HUMAN			12	1357	+		Renal(717;0.228)	0					A8K516|Q6IAG0|Q9UH49	Frame_Shift_Del	DEL	ENST00000491614.1	37	c.1270delA	CCDS7089.1																																																																																				0.443	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			2	4						2	4	---	---	---	---	-	12211282	A	-	12211282	6	5	146	0	1	1	0	1	0	0	0	0	14001	247	9	0		0	SEC61A2	10	12211282	Intron	DEL	A	TCGA-WB-A80N-01A-11D-A35I-08		12211282	123323465	14	2599										
FAM175B	23172	broad.mit.edu	37	chr10	126523309	126523309	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgacctcaagctgtgggctcTtccaattatgcttccaccag	8	14	2	0			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr10:126523309T>C	ENST00000298492.5	+	9	1062	c.1017T>C	c.(1015-1017)tcT>tcC	p.S339S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	339					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						CTGTGGGCTCTTCCAATTATG	0.512																																						ENST00000298492.5																			0				NS(1)	1						c.(1015-1017)tcT>tcC		family with sequence similarity 175, member B							98	88	92					10																	126523309		2203	4300	6503	SO:0001819	synonymous_variant	23172					BRISC complex	polyubiquitin binding	g.chr10:126523309T>C	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1017T>C	10.37:g.126523309T>C							p.S339S	NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN			9	1062	+			339					B4DKR2|Q96H11	Silent	SNP	ENST00000298492.5	37	c.1017T>C	CCDS31308.2																																																																																				0.512	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		10	23	0	0	0	1	0	10	23					C	126523309	T	C	126523309	2	2	146	1	0	0	0	0	0	0	0	1	5498	1596	56	4		4	FAM175B	10	126523309	Silent	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08	114312027	126523309	9011438	15	2600										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L	p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		23	70	0	0	0	1	0	23	70					A	533874	T	A	533874	3	1	146	1	0	0	0	0	1	0	0	0	7348	1580	55	5	466	5	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A80N-01A-11D-A35I-08		533874	134472642	16	2601										
TTC9C	283237	broad.mit.edu	37	chr11	62502998	62502998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggactatgaccaggcccGccactacctcctggctgccg	11	17	0	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr11:62502998G>A	ENST00000316461.4	+	2	693	c.383G>A	c.(382-384)cGc>cAc	p.R128H	TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	128										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GACCAGGCCCGCCACTACCTC	0.512																																						ENST00000316461.4																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						c.(382-384)cGc>cAc		tetratricopeptide repeat domain 9C							36	34	35					11																	62502998		2202	4298	6500	SO:0001583	missense	283237						binding	g.chr11:62502998G>A	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"Tetratricopeptide (TTC) repeat domain containing"	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.383G>A	11.37:g.62502998G>A	ENSP00000325266:p.Arg128His					TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H	p.R128H	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN			2	693	+			128					Q8WYY7	Missense_Mutation	SNP	ENST00000316461.4	37	c.383G>A	CCDS8033.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566967	0.28003	.	.	ENSG00000162222	ENST00000530625;ENST00000316461;ENST00000532583;ENST00000532276	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	6.04	3.05	0.35203	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.82472	0.5044	L	0.45137	1.4	0.46336	D	0.998998	B	0.02656	0.0	B	0.01281	0.0	T	0.73040	-0.4108	9	0.37606	T	0.19	.	7.4153	0.27040	0.3651:0.0:0.6349:0.0	.	128	Q8N5M4	TTC9C_HUMAN	H	128;128;128;26	ENSP00000435282:R128H;ENSP00000325266:R128H;ENSP00000434340:R128H;ENSP00000434137:R26H	ENSP00000325266:R128H	R	+	2	0	TTC9C	62259574	0.305000	0.24481	0.964000	0.40570	0.605000	0.37080	0.281000	0.18810	0.372000	0.24591	0.563000	0.77884	CGC		0.512	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		3	25	0	0	0	1	0	3	25					A	62502998	G	A	62502998	3	1	146	1	0	0	0	0	1	0	0	0	16714	1087	38	1	389	1	TTC9C	11	62502998	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	61969124	62502998	72503518	17	2602										
HOXC10	3226	broad.mit.edu	37	chr12	54379494	54379494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgtgcccagctactaccgcGccagcccgagctactccgcg	10	20	0	0			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr12:54379494G>A	ENST00000303460.4	+	1	525	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	151					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTACTACCGCGCCAGCCCGAG	0.677																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(451-453)Gcc>Acc		homeobox C10							29	29	29					12																	54379494		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379494G>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"Homeoboxes / ANTP class : HOXL subclass"	5122	protein-coding gene	gene with protein product		605560	"homeo box C10"	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.451G>A	12.37:g.54379494G>A	ENSP00000307321:p.Ala151Thr						p.A151T	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			1	525	+			151					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.451G>A	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254708	0.39896	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.91521	-2.86	4.57	2.7	0.31948	.	0.191049	0.46145	D	0.000311	D	0.83811	0.5335	L	0.40543	1.245	0.43545	D	0.995849	B	0.25850	0.136	B	0.11329	0.006	T	0.79482	-0.1785	10	0.41790	T	0.15	.	9.4856	0.38928	0.1803:0.0:0.8197:0.0	.	151	Q9NYD6	HXC10_HUMAN	T	39;151	ENSP00000307321:A151T	ENSP00000307321:A151T	A	+	1	0	HOXC10	52665761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.334000	0.43920	1.054000	0.40438	0.511000	0.50034	GCC		0.677	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			3	40	0	0	0	1	0	3	40					A	54379494	G	A	54379494	3	1	146	1	0	0	0	0	1	0	0	0	7309	1087	38	1	453	1	HOXC10	12	54379494	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		54379494	79472401	18	2603										
DCLK1	9201	broad.mit.edu	37	chr13	36385001	36385001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaatgatttctggagccacGtatgttggggtgccacagac	13	9	1	2	rs144489471	byFrequency	TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr13:36385001G>A	ENST00000360631.3	-	12	1870	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	DCLK1_ENST00000255448.4_Silent_p.Y553Y|DCLK1_ENST00000379893.1_Silent_p.Y246Y			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	553	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGAGCCACGTATGTTGGGG	0.478													G|||	2	0.000399361	0	0	5008	,	,		16385	0.002		0	False		,,,				2504	0					ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1657-1659)taC>taT		doublecortin-like kinase 1		G	,,	0,4406		0,0,2203	178	176	177		738,738,1659	-6.4	0.2	13	dbSNP_134	177	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	246/423,246/434,553/730	36385001	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36385001G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1659C>T	13.37:g.36385001G>A						DCLK1_ENST00000379893.1_Silent_p.Y246Y|DCLK1_ENST00000360631.3_Silent_p.Y553Y	p.Y553Y	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	12	1870	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	553			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.1659C>T																																																																																					0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		4	174	0	0	0	1	0	4	174					A	36385001	G	A	36385001	2	1	146	1	0	0	0	0	0	0	0	1	4291	1140	40	1		1	DCLK1	13	36385001	Silent	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		36385001	78784877	19	2604										
AHNAK2	113146	broad.mit.edu	37	chr14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacaggtcaccctccagccGcacactgtccagcttggctc	10	17	1	0	rs373634735		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5410-5412)Cgg>Tgg		AHNAK nucleoprotein 2		G	TRP/ARG	1,4013		0,1,2006	146	174	165		5410	-4.1	0	14		165	0,8296		0,0,4148	no	missense	AHNAK2	NM_138420.2	101	0,1,6154	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	1804/5796	105416378	1,12309	2007	4148	6155	SO:0001583	missense	113146					nucleus		g.chr14:105416378G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5410C>T	14.37:g.105416378G>A	ENSP00000353114:p.Arg1804Trp					AHNAK2_ENST00000557457.1_Intron	p.R1804W	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5529	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1804					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5410C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097490	0.37048	2.49E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	D	0.54772	0.968	B	0.33042	0.157	T	0.50372	-0.8836	9	0.66056	D	0.02	.	6.3633	0.21441	0.0:0.0:0.544:0.456	.	1804	Q8IVF2	AHNK2_HUMAN	W	1804	ENSP00000353114:R1804W	ENSP00000353114:R1804W	R	-	1	2	AHNAK2	104487423	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.288000	0.09051	0.456000	0.33151	CGG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	444	0	0	0	1	0	5	444					A	105416378	G	A	105416378	3	1	146	1	0	0	0	0	1	0	0	0	415	1086	38	1	11981	1	AHNAK2	14	105416378	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		105416378	1933162	20	2605										
EPB42	2038	broad.mit.edu	37	chr15	43512971	43512971	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggtgatgctgcgggggctGcatacagtccagcaagccct	14	12	0	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr15:43512971G>A	ENST00000441366.2	-	1	236				EPB42_ENST00000300215.3_Missense_Mutation_p.A18V|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2						cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGCGGGGGCTGCATACAGTCC	0.582																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(52-54)gCa>gTa		erythrocyte membrane protein band 4.2							132	128	129					15																	43512971		2203	4299	6502	SO:0001627	intron_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43512971G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"Transglutaminases"	3381	protein-coding gene	gene with protein product	"Erythrocyte surface protein band 4.2"	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.10+42C>T	15.37:g.43512971G>A						EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron	p.A18V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	1	510	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	0					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.53C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856159	0.51376	.	.	ENSG00000166947	ENST00000300215	D	0.85955	-2.05	3.5	2.37	0.29283	.	10.230900	0.00166	N	0.000007	T	0.67869	0.2939	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.62854	-0.6766	9	0.05959	T	0.93	-0.1817	5.0058	0.14288	0.8515:0.0:0.1485:0.0	.	18	P16452-2	.	V	18	ENSP00000300215:A18V	ENSP00000300215:A18V	A	-	2	0	EPB42	41300263	0.004000	0.15560	0.005000	0.12908	0.006000	0.05464	0.829000	0.27449	0.546000	0.28920	-0.379000	0.06801	GCA		0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		4	153	0	0	0	1	0	4	153					A	43512971	G	A	43512971	1	1	146	0	1	0	0	0	0	0	0	0	5158	1319	46	3		3	EPB42	15	43512971	Intron	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		43512971	59018421	21	2606										
CDH16	1014	broad.mit.edu	37	chr16	66942312	66942312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cattcagacagtcgccttcaGgggcacgctgtctgctggtt	12	12	3	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:66942312G>A	ENST00000299752.4	-	18	2666	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	CDH16_ENST00000570262.1_Silent_p.L745L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000394055.3_Silent_p.L803L|CDH16_ENST00000568632.1_Silent_p.L728L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	825					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCGCCTTCAGGGGCACGCTG	0.592																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2473-2475)Ctg>Ttg		cadherin 16, KSP-cadherin							90	87	88					16																	66942312		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66942312G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2473C>T	16.37:g.66942312G>A						CDH16_ENST00000568632.1_Silent_p.L728L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000570262.1_Silent_p.L745L|CDH16_ENST00000394055.3_Silent_p.L803L	p.L825L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	18	2666	-		Ovarian(137;0.0563)	825					B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.2473C>T	CCDS10823.1																																																																																				0.592	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		14	44	0	0	0	1	0	14	44					A	66942312	G	A	66942312	2	1	146	1	0	0	0	0	0	0	0	1	3101	991	35	3		3	CDH16	16	66942312	Silent	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		66942312	23412441	22	2607										
MVD	4597	broad.mit.edu	37	chr16	88721768	88721768	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	gaagctggggaagtctcgctCccggatgcagcgggccatct					rs541624153		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:88721768delC	ENST00000301012.3	-	7	765	c.736delG	c.(736-738)gagfs	p.E246fs	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	246					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AAGTCTCGCTCCCGGATGCAG	0.657																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(736-738)agfs		mevalonate (diphospho) decarboxylase							191	145	161					16																	88721768		2191	4295	6486	SO:0001589	frameshift_variant	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721768delC	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.736delG	16.37:g.88721768delC	ENSP00000301012:p.Glu246fs						p.E246fs	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	765	-			246					Q53Y65	Frame_Shift_Del	DEL	ENST00000301012.3	37	c.736delG	CCDS10968.1																																																																																				0.657	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		2	4						2	4	---	---	---	---	-	88721768	C	-	88721768	7	5	146	1	0	1	0	1	0	0	0	0	9994	864	30	0	482	0	MVD	16	88721768	Frame_Shift_Del	DEL	C	TCGA-WB-A80N-01A-11D-A35I-08	21779456	88721768	1632985	23	2608										
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	77	0	0	0	1	0	4	77					C	33520392	G	C	33520392	3	2	146	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		33520392	47674818	24	2609										
C17orf71	55181	broad.mit.edu	37	chr17	57288930	57288930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgccaaaaagctttacccatGgcccacagtgcctaccagtc	7	15	0	0	rs142667389		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr17:57288930G>T	ENST00000543872.2	+	2	1782	c.1518G>T	c.(1516-1518)atG>atT	p.M506I	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.M506I|SMG8_ENST00000300917.5_Missense_Mutation_p.M506I|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	506					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTTTACCCATGGCCCACAGTG	0.398																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1516-1518)atG>atT		SMG8 nonsense mediated mRNA decay factor							84	77	79					17																	57288930		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288930G>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1518G>T	17.37:g.57288930G>T	ENSP00000438748:p.Met506Ile					SMG8_ENST00000578922.1_Missense_Mutation_p.M506I|SMG8_ENST00000300917.5_Missense_Mutation_p.M506I|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron	p.M506I			Q8ND04	SMG8_HUMAN			2	1782	+			506					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1518G>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659686	0.47572	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.41400	1.0;1.0	5.75	5.75	0.90469	.	0.039411	0.85682	D	0.000000	T	0.36386	0.0965	L	0.36672	1.1	0.80722	D	1	B	0.26547	0.152	B	0.23716	0.048	T	0.08086	-1.0739	10	0.22706	T	0.39	-13.6981	18.9389	0.92597	0.0:0.0:1.0:0.0	.	506	Q8ND04	SMG8_HUMAN	I	506	ENSP00000300917:M506I;ENSP00000438748:M506I	ENSP00000300917:M506I	M	+	3	0	SMG8	54643712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.899000	0.87370	2.705000	0.92388	0.655000	0.94253	ATG		0.398	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		25	61	1	0	3.6726e-16	1	3.90214e-16	25	61					T	57288930	G	T	57288930	3	4	146	1	0	0	0	0	1	0	0	0	1878	1348	47	5	1520	5	C17orf71	17	57288930	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	23768538	57288930	23906280	25	2610										
KRI1	84971	broad.mit.edu	37	chr19	10665833	10665833	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggccttctggctgtacgcccGcttgtcccgcagctcctcct	10	18	1	0			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:10665833G>A	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Missense_Mutation_p.R577W|KRI1_ENST00000361821.5_Missense_Mutation_p.R573W|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGTACGCCCGCTTGTCCCGC	0.632																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1729-1731)Cgg>Tgg		KRI1 homolog (S. cerevisiae)							80	80	80					19																	10665833		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665833G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665833G>A						KRI1_ENST00000361821.5_Missense_Mutation_p.R573W	p.R577W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1748	-			577					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1729C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450976	0.63290	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.10192	3.08;2.9	5.12	0.27	0.15635	Kri1-like, C-terminal (1);	0.172840	0.45126	D	0.000399	T	0.23926	0.0579	L	0.52573	1.65	0.37456	D	0.915024	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.01405	-1.1363	10	0.87932	D	0	-39.3169	13.7973	0.63180	0.0:0.0:0.5408:0.4592	.	577;573	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	577;573	ENSP00000320917:R577W;ENSP00000355366:R573W	ENSP00000320917:R577W	R	-	1	2	KRI1	10526833	0.243000	0.23878	0.881000	0.34555	0.780000	0.44128	0.030000	0.13688	-0.230000	0.09840	-0.457000	0.05445	CGG		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		4	99	0	0	0	1	0	4	99					A	10665833	G	A	10665833	1	1	146	0	1	0	0	0	0	0	0	0	8444	1086	38	1		1	KRI1	19	10665833	IGR	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08		10665833	48463150	26	2611										
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	150	0	0	0	1	0	5	150					A	12575498	G	A	12575498	3	1	146	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-WB-A80N-01A-11D-A35I-08	1909665	12575498	46553485	27	2612										
SIGLEC6	946	broad.mit.edu	37	chr19	52033997	52033997	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctccagggaacgtcacctgaCaggtgaggttggtgctgtgg	16	9	1	2			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:52033997C>G	ENST00000425629.3	-	3	798	c.644G>C	c.(643-645)tGt>tCt	p.C215S	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.C215S	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGTCACCTGACAGGTGAGGTT	0.652																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(643-645)tGt>tCt		sialic acid binding Ig-like lectin 6							61	68	66					19																	52033997		2202	4300	6502	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033997C>G	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.644G>C	19.37:g.52033997C>G	ENSP00000401502:p.Cys215Ser					SIGLEC6_ENST00000425629.3_Missense_Mutation_p.C215S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S	p.C215S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	712	-		all_neural(266;0.0199)	215			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.644G>C	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258855	0.39896	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	3.47	3.47	0.39725	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001088	D	0.90335	0.6976	M	0.91561	3.22	0.37284	D	0.907947	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.92822	0.6273	10	0.87932	D	0	.	10.6184	0.45465	0.0:1.0:0.0:0.0	.	215;179;204;215;215;215	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	S	204;215;215;215;179;215	ENSP00000401502:C215S;ENSP00000353071:C215S;ENSP00000410679:C179S;ENSP00000345907:C215S	ENSP00000345907:C215S	C	-	2	0	SIGLEC6	56725809	0.961000	0.32948	0.718000	0.30602	0.234000	0.25298	2.685000	0.46959	1.945000	0.56424	0.462000	0.41574	TGT		0.652	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		15	34	0	0	0	1	0	15	34					G	52033997	C	G	52033997	3	3	146	1	0	0	0	0	1	0	0	0	14312	478	17	5	774	5	SIGLEC6	19	52033997	Missense_Mutation	SNP	C	TCGA-WB-A80N-01A-11D-A35I-08	39458499	52033997	7094986	28	2613										
SCP2	6342	broad.mit.edu	37	chr1	53516319	53516319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgaaaatcactggcaacatGggtctcgctatgaagttaca	9	8	2	2			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr1:53516319G>A	ENST00000528311.1	+	15	1640	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.M505I|SCP2_ENST00000371509.4_Missense_Mutation_p.M485I|SCP2_ENST00000371514.3_Missense_Mutation_p.M529I|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000435345.2_Missense_Mutation_p.M125I|SCP2_ENST00000430330.2_Missense_Mutation_p.M122I	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CTGGCAACATGGGTCTCGCTA	0.373																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(1585-1587)atG>atA		sterol carrier protein 2							127	129	128					1																	53516319		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53516319G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1344G>A	1.37:g.53516319G>A	ENSP00000434132:p.Met448Ile					SCP2_ENST00000435345.2_Missense_Mutation_p.M125I|SCP2_ENST00000430330.2_Missense_Mutation_p.M122I|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000528311.1_Missense_Mutation_p.M448I|SCP2_ENST00000407246.2_Missense_Mutation_p.M505I|SCP2_ENST00000371509.4_Missense_Mutation_p.M485I|SCP2_ENST00000488965.1_3'UTR	p.M529I	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			16	1755	+			529			SCP2.		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1587G>A	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914747	0.92178	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	6.06	6.06	0.98353	SCP2 sterol-binding domain (2);	0.037040	0.85682	D	0.000000	T	0.42720	0.1215	L	0.49640	1.575	0.80722	D	1	P;P;B;P	0.45986	0.707;0.781;0.051;0.87	P;P;B;P	0.61800	0.789;0.894;0.3;0.894	T	0.04360	-1.0957	10	0.87932	D	0	-25.4539	19.4112	0.94673	0.0:0.0:1.0:0.0	.	505;485;122;529	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	I	529;448;485;505;122;125	ENSP00000360569:M529I;ENSP00000434132:M448I;ENSP00000360564:M485I;ENSP00000384569:M505I;ENSP00000406636:M122I;ENSP00000396413:M125I	ENSP00000360564:M485I	M	+	3	0	SCP2	53288907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.857000	0.92250	2.880000	0.98712	0.650000	0.86243	ATG		0.373	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		5	41	0	0	0	1	0	5	41					A	53516319	G	A	53516319	3	1	147	1	0	0	0	0	1	0	0	0	13934	1348	47	3	1673	3	SCP2	1	53516319	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08		53516319	195734302	1	2614										
TCHHL1	126637	broad.mit.edu	37	chr1	152058827	152058827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttctgagcttagatattgtGtctcagaacctttttcagca	7	9	3	3			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr1:152058827G>A	ENST00000368806.1	-	3	1395	c.1331C>T	c.(1330-1332)aCa>aTa	p.T444I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	444							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TAGATATTGTGTCTCAGAACC	0.453																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1330-1332)aCa>aTa		trichohyalin-like 1							216	204	208					1																	152058827		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058827G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1331C>T	1.37:g.152058827G>A	ENSP00000357796:p.Thr444Ile						p.T444I	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1395	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		444					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1331C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	15.31	2.794847	0.50102	.	.	ENSG00000182898	ENST00000368806	T	0.25749	1.78	5.59	2.69	0.31865	.	0.352615	0.20724	N	0.086846	T	0.07143	0.0181	L	0.38838	1.175	0.09310	N	1	B	0.31611	0.331	B	0.30251	0.113	T	0.20472	-1.0274	10	0.37606	T	0.19	-0.3925	8.119	0.30961	0.2588:0.0:0.7412:0.0	.	444	Q5QJ38	TCHL1_HUMAN	I	444	ENSP00000357796:T444I	ENSP00000357796:T444I	T	-	2	0	TCHHL1	150325451	0.011000	0.17503	0.001000	0.08648	0.167000	0.22549	1.638000	0.37165	0.730000	0.32425	0.650000	0.86243	ACA		0.453	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	113	0	0	0	1	0	10	113					A	152058827	G	A	152058827	3	1	147	1	0	0	0	0	1	0	0	0	15698	1377	48	3	1387	3	TCHHL1	1	152058827	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08	98542508	152058827	97191794	2	2615										
SPTBN1	6711	broad.mit.edu	37	chr2	54853144	54853144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccattgagacagacattgccGcatacgaggagcgtgtgcag	13	10	0	2			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr2:54853144G>A	ENST00000356805.4	+	12	1698	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A460T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	473					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGACATTGCCGCATACGAGGA	0.537																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(1378-1380)Gca>Aca		spectrin, beta, non-erythrocytic 1							86	82	83					2																	54853144		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54853144G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1417G>A	2.37:g.54853144G>A	ENSP00000349259:p.Ala473Thr					SPTBN1_ENST00000356805.4_Missense_Mutation_p.A473T	p.A460T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1763	+			473					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1378G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304477	0.95601	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.55588	0.51;0.51;0.51	5.81	4.92	0.64577	.	0.054281	0.64402	D	0.000001	T	0.72399	0.3455	M	0.79614	2.46	0.58432	D	0.999998	D;D	0.89917	0.994;1.0	P;D	0.67900	0.733;0.954	T	0.77362	-0.2616	10	0.87932	D	0	.	16.1709	0.81817	0.0:0.0:0.8655:0.1345	.	460;473	Q01082-3;Q01082	.;SPTB2_HUMAN	T	473;473;460	ENSP00000349259:A473T;ENSP00000374630:A473T;ENSP00000334156:A460T	ENSP00000334156:A460T	A	+	1	0	SPTBN1	54706648	1.000000	0.71417	0.138000	0.22173	0.993000	0.82548	9.802000	0.99131	1.424000	0.47217	0.650000	0.86243	GCA		0.537	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			3	58	0	0	0	1	0	3	58					A	54853144	G	A	54853144	3	1	147	1	0	0	0	0	1	0	0	0	15118	1087	38	1	1572	1	SPTBN1	2	54853144	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08		54853144	188346229	3	2616										
TMEM22	80723	broad.mit.edu	37	chr3	136573458	136573458	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggaaattttatggaggaaaaTccaaagaaaggtctgctgag	12	4	1	2			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:136573458T>C	ENST00000446465.2	+	2	784	c.156T>C	c.(154-156)aaT>aaC	p.N52N	RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N52N|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TGGAGGAAAATCCAAAGAAAG	0.408																																						ENST00000446465.2																			0											c.(154-156)aaT>aaC		solute carrier family 35, member G2							117	133	128					3																	136573458		2203	4300	6503	SO:0001819	synonymous_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573458T>C	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.156T>C	3.37:g.136573458T>C						RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N52N	p.N52N	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	784	+			52						Silent	SNP	ENST00000446465.2	37	c.156T>C	CCDS3091.1																																																																																				0.408	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		46	91	0	0	0	1	0	46	91					C	136573458	T	C	136573458	2	2	147	1	0	0	0	0	0	0	0	1	16140	1432	50	4		4	TMEM22	3	136573458	Silent	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08		136573458	61448972	4	2617										
PIK3CA	5290	broad.mit.edu	37	chr3	178919203	178919203	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aagcaatcaggaaaaaaactCgaagtatgttgctatcctct	7	8	2	0			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:178919203C>A	ENST00000263967.3	+	4	845	c.688C>A	c.(688-690)Cga>Aga	p.R230R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	230	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAAAAAACTCGAAGTATGTT	0.343		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(688-690)Cga>Aga		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							111	102	105					3																	178919203		1842	4125	5967	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178919203C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.688C>A	3.37:g.178919203C>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R230R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		4	845	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		230			PI3K-RBD.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.688C>A	CCDS43171.1																																																																																				0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	34	1	0	1.99824e-07	1	2.06714e-07	17	34					A	178919203	C	A	178919203	2	1	147	1	0	0	0	0	0	0	0	1	11913	876	31	5		5	PIK3CA	3	178919203	Silent	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08	42345745	178919203	19103227	5	2618										
LEPREL1	55214	broad.mit.edu	37	chr3	189705336	189705336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctctctggcctcaatggatgCcgggtcaatgctatcatcca	9	13	4	0			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:189705336C>T	ENST00000319332.5	-	5	1275	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	LEPREL1_ENST00000427335.2_Missense_Mutation_p.A179T	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	360					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCAATGGATGCCGGGTCAATG	0.428																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1078-1080)Gca>Aca		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						95	82	86					3																	189705336		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189705336C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1078G>A	3.37:g.189705336C>T	ENSP00000316881:p.Ala360Thr					LEPREL1_ENST00000427335.2_Missense_Mutation_p.A179T	p.A360T	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	5	1275	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		360					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1078G>A	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	4.420	0.077755	0.08485	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.35048	1.33;1.66	5.98	3.11	0.35812	.	1.153240	0.06099	N	0.665131	T	0.27169	0.0666	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14448	-1.0472	9	.	.	.	0.0236	9.436	0.38639	0.0:0.7421:0.121:0.1369	.	360	Q8IVL5	P3H2_HUMAN	T	360;179	ENSP00000316881:A360T;ENSP00000408947:A179T	.	A	-	1	0	LEPREL1	191188030	0.001000	0.12720	0.896000	0.35187	0.255000	0.26057	1.212000	0.32394	1.549000	0.49425	-0.225000	0.12378	GCA		0.428	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		3	34	0	0	0	1	0	3	34					T	189705336	C	T	189705336	3	4	147	1	0	0	0	0	1	0	0	0	8730	739	26	3	1092	3	LEPREL1	3	189705336	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08	10786133	189705336	8317094	6	2619										
TNK2	10188	broad.mit.edu	37	chr3	195599219	195599219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccctgtgtggatgaagctgTtctgcaggggctggctgatg	17	8	1	2			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr3:195599219T>C	ENST00000333602.6	-	10	1996	c.1379A>G	c.(1378-1380)aAc>aGc	p.N460S	TNK2_ENST00000428187.1_Missense_Mutation_p.N492S|TNK2_ENST00000316664.3_Missense_Mutation_p.N460S|TNK2_ENST00000392400.1_Missense_Mutation_p.N460S|TNK2_ENST00000381916.2_Missense_Mutation_p.N523S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	460	CRIB.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GATGAAGCTGTTCTGCAGGGG	0.657																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1378-1380)aAc>aGc		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)						61	49	53					3																	195599219		2203	4300	6503	SO:0001583	missense	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195599219T>C	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1379A>G	3.37:g.195599219T>C	ENSP00000329425:p.Asn460Ser					TNK2_ENST00000316664.3_Missense_Mutation_p.N460S|TNK2_ENST00000381916.2_Missense_Mutation_p.N523S|TNK2_ENST00000428187.1_Missense_Mutation_p.N492S|TNK2_ENST00000392400.1_Missense_Mutation_p.N460S	p.N460S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	10	1996	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	460	Missing (in Ref. 4; AAH08884).		CRIB.		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	c.1379A>G	CCDS33928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.793609|4.793609	0.90453|0.90453	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400;ENST00000411741;ENST00000316664|ENST00000424563	T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.45|5.45	5.45|5.45	0.79879|0.79879	GTPase binding (1);|.	0.045029|.	0.85682|.	D|.	0.000000|.	T|T	0.69269|0.69269	0.3092|0.3092	L|L	0.58101|0.58101	1.795|1.795	0.48975|0.48975	D|D	0.999733|0.999733	B;D;D;B|.	0.60160|.	0.118;0.987;0.983;0.437|.	B;P;P;P|.	0.60286|.	0.159;0.872;0.798;0.475|.	T|T	0.68085|0.68085	-0.5502|-0.5502	10|5	0.28530|.	T|.	0.3|.	.|.	14.3407|14.3407	0.66624|0.66624	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	336;460;523;492|.	Q59FX1;Q07912;Q07912-3;C9J1X3|.	.;ACK1_HUMAN;.;.|.	S|A	460;523;12;492;460;105;460|70	ENSP00000329425:N460S;ENSP00000371341:N523S;ENSP00000398614:N12S;ENSP00000392546:N492S;ENSP00000376201:N460S;ENSP00000415126:N105S;ENSP00000323216:N460S|.	ENSP00000323216:N460S|.	N|T	-|-	2|1	0|0	TNK2|TNK2	197083616|197083616	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.950000|0.950000	0.60333|0.60333	5.855000|5.855000	0.69510|0.69510	2.077000|2.077000	0.62373|0.62373	0.459000|0.459000	0.35465|0.35465	AAC|ACA		0.657	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		3	26	0	0	0	1	0	3	26					C	195599219	T	C	195599219	3	2	147	1	0	0	0	0	1	0	0	0	16315	1725	60	4	1810	4	TNK2	3	195599219	Missense_Mutation	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08	5893883	195599219	2423211	7	2620										
C6	729	broad.mit.edu	37	chr5	41149523	41149523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcagccaaaaacttacaagCgggtgaagtaaagtaatcgt	9	8	1	1			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr5:41149523C>T	ENST00000263413.3	-	17	2707	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T	C6_ENST00000337836.5_Missense_Mutation_p.A815T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	815	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AACTTACAAGCGGGTGAAGTA	0.418																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2443-2445)Gct>Act		complement component 6							126	135	132					5																	41149523		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149523C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2443G>A	5.37:g.41149523C>T	ENSP00000263413:p.Ala815Thr					C6_ENST00000337836.5_Missense_Mutation_p.A815T	p.A815T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2707	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	815			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2443G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311736	0.10789	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.04654	3.58;3.58	5.76	3.75	0.43078	Proteinase inhibitor I1, Kazal (1);Factor I / membrane attack complex (1);Protease inhibitor, Kazal-type (1);	0.506944	0.22732	N	0.056307	T	0.03520	0.0101	L	0.36672	1.1	0.27730	N	0.944844	B	0.18166	0.026	B	0.14578	0.011	T	0.36480	-0.9746	10	0.20519	T	0.43	-1.7053	2.87	0.05614	0.0:0.4485:0.2432:0.3083	.	815	P13671	CO6_HUMAN	T	815	ENSP00000338861:A815T;ENSP00000263413:A815T	ENSP00000263413:A815T	A	-	1	0	C6	41185280	0.161000	0.22892	0.532000	0.27989	0.247000	0.25773	0.470000	0.22084	1.445000	0.47624	0.655000	0.94253	GCT		0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	143	0	0	0	1	0	5	143					T	41149523	C	T	41149523	3	4	147	1	0	0	0	0	1	0	0	0	2315	768	27	1	369	1	C6	5	41149523	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		41149523	139765737	8	2621										
APC	324	broad.mit.edu	37	chr5	112178930	112178930	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caatcaataggtcaggaaccTggaaacgtgagcacagcaaa	10	9	2	1			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr5:112178930T>C	ENST00000457016.1	+	16	8019	c.7639T>C	c.(7639-7641)Tgg>Cgg	p.W2547R	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.W2547R|APC_ENST00000508376.2_Missense_Mutation_p.W2547R			P25054	APC_HUMAN	adenomatous polyposis coli	2547	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTCAGGAACCTGGAAACGTGA	0.428		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(7639-7641)Tgg>Cgg		adenomatous polyposis coli							87	85	85					5																	112178930		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178930T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7639T>C	5.37:g.112178930T>C	ENSP00000413133:p.Trp2547Arg	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.W2547R|APC_ENST00000257430.4_Missense_Mutation_p.W2547R	p.W2547R			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8019	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2547			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7639T>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898971	0.52227	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.82803	-1.65;-1.65;-1.65	6.07	6.07	0.98685	Adenomatous polyposis coli protein basic domain (1);	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85128	0.0973	9	.	.	.	-5.4668	16.6288	0.85011	0.0:0.0:0.0:1.0	.	2549;2547	Q4LE70;P25054	.;APC_HUMAN	R	2547	ENSP00000413133:W2547R;ENSP00000257430:W2547R;ENSP00000427089:W2547R	.	W	+	1	0	APC	112206829	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.396000	0.73234	2.326000	0.78906	0.533000	0.62120	TGG		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		4	71	0	0	0	1	0	4	71					C	112178930	T	C	112178930	3	2	147	1	0	0	0	0	1	0	0	0	763	1580	55	4	7697	4	APC	5	112178930	Missense_Mutation	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08	71029407	112178930	68736330	9	2622										
HSP90AB1	3326	broad.mit.edu	37	chr6	44221299	44221299	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagatcccccctctcgagggCgatgaggatgcgtctcgcat	13	13	2	2	rs143048794	byFrequency	TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr6:44221299C>T	ENST00000371554.1	+	12	2353	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Silent_p.G713G|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Silent_p.G713G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	713					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.G713G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCTCGAGGGCGATGAGGATG	0.498											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371554.1																			1	Substitution - coding silent(1)	p.G713G(1)	lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2137-2139)ggC>ggT		heat shock protein 90kDa alpha (cytosolic), class B member 1							79	82	81					6																	44221299		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221299C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2139C>T	6.37:g.44221299C>T			OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G	p.G713G			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	2353	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		713					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.2139C>T	CCDS4909.1																																																																																				0.498	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		5	35	0	0	0	1	0	5	35					T	44221299	C	T	44221299	2	4	147	1	0	0	0	0	0	0	0	1	7402	755	27	1		1	HSP90AB1	6	44221299	Silent	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		44221299	126893768	10	2623										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		38	36	0	0	0	1	0	38	36					C	533874	T	C	533874	3	2	147	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A80O-01A-11D-A35I-08		533874	134472642	11	2624										
MRGPRX4	117196	broad.mit.edu	37	chr11	18195692	18195692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ttctccagagggctctgcagGacaagcctgaggtggataaa	13	9	2	2			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr11:18195692G>A	ENST00000314254.3	+	1	1309	c.889G>A	c.(889-891)Gac>Aac	p.D297N	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCTCTGCAGGACAAGCCTGA	0.552																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(889-891)Gac>Aac		MAS-related GPR, member X4							64	68	67					11																	18195692		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195692G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"GPCR / Class A : Orphans"	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.889G>A	11.37:g.18195692G>A	ENSP00000314042:p.Asp297Asn					RP11-113D6.6_ENST00000527671.1_Intron	p.D297N	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1309	+			297					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.889G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348647	0.82132	.	.	ENSG00000179817	ENST00000314254	T	0.18810	2.19	2.85	2.85	0.33270	.	0.422206	0.22515	N	0.059042	T	0.44095	0.1277	M	0.81942	2.565	0.22017	N	0.999413	D	0.89917	1.0	D	0.76575	0.988	T	0.13764	-1.0497	10	0.87932	D	0	.	9.2601	0.37608	0.0:0.0:1.0:0.0	.	297	Q96LA9	MRGX4_HUMAN	N	297	ENSP00000314042:D297N	ENSP00000314042:D297N	D	+	1	0	MRGPRX4	18152268	0.008000	0.16893	0.956000	0.39512	0.678000	0.39670	0.655000	0.24933	1.616000	0.50265	0.430000	0.28490	GAC		0.552	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		4	84	0	0	0	1	0	4	84					A	18195692	G	A	18195692	3	1	147	1	0	0	0	0	1	0	0	0	9769	1174	41	3	891	3	MRGPRX4	11	18195692	Missense_Mutation	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08	17661818	18195692	116810824	12	2625										
MLL	4297	broad.mit.edu	37	chr11	118372559	118372559	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agatcccctggctgtcgaccGttgccttctgcaggtaaaag	11	12	1	1	rs145452548	byFrequency	TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr11:118372559G>A	ENST00000389506.5	+	26	6483	c.6483G>A	c.(6481-6483)ccG>ccA	p.P2161P	KMT2A_ENST00000354520.4_Silent_p.P2123P|KMT2A_ENST00000534358.1_Silent_p.P2164P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2161					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCTGTCGACCGTTGCCTTCTG	0.443													g|||	5	0.000998403	0	0	5008	,	,		18450	0.005		0	False		,,,				2504	0					ENST00000534358.1																			0											c.(6490-6492)ccG>ccA		lysine (K)-specific methyltransferase 2A							80	80	80					11																	118372559		2200	4296	6496	SO:0001819	synonymous_variant	4297							g.chr11:118372559G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6483G>A	11.37:g.118372559G>A						KMT2A_ENST00000389506.5_Silent_p.P2161P|KMT2A_ENST00000354520.4_Silent_p.P2123P	p.P2164P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					26	6515	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.6492G>A	CCDS31686.1																																																																																				0.443	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	86	0	0	0	1	0	4	86					A	118372559	G	A	118372559	2	1	147	1	0	0	0	0	0	0	0	1	9620	1132	40	1		1	MLL	11	118372559	Silent	SNP	G	TCGA-WB-A80O-01A-11D-A35I-08	100176867	118372559	16633957	13	2626										
KRT6C	286887	broad.mit.edu	37	chr12	52863523	52863523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccagggccagcttgacattcAtcagctcctggtactccttc	8	15	2	1			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr12:52863523A>G	ENST00000252250.6	-	7	1402	c.1355T>C	c.(1354-1356)aTg>aCg	p.M452T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	452	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CTTGACATTCATCAGCTCCTG	0.597																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1354-1356)aTg>aCg		keratin 6C							114	100	105					12																	52863523		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863523A>G	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1355T>C	12.37:g.52863523A>G	ENSP00000252250:p.Met452Thr						p.M452T	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1402	-			452			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1355T>C	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052630	0.55218	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.89050	-2.46	3.77	3.77	0.43336	Filament (1);	0.155967	0.45126	D	0.000391	D	0.94509	0.8232	H	0.94734	3.575	0.47698	D	0.999494	P	0.51057	0.941	P	0.55391	0.775	D	0.95681	0.8732	10	0.87932	D	0	.	12.9392	0.58333	1.0:0.0:0.0:0.0	.	452	P48668	K2C6C_HUMAN	T	452;437	ENSP00000252250:M452T	ENSP00000252250:M452T	M	-	2	0	KRT6C	51149790	1.000000	0.71417	0.985000	0.45067	0.416000	0.31233	8.806000	0.91930	1.698000	0.51180	0.368000	0.22195	ATG		0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		18	62	0	0	0	1	0	18	62					G	52863523	A	G	52863523	3	3	147	1	0	0	0	0	1	0	0	0	8482	217	8	4	351	4	KRT6C	12	52863523	Missense_Mutation	SNP	A	TCGA-WB-A80O-01A-11D-A35I-08		52863523	80988372	14	2627										
NDN	4692	broad.mit.edu	37	chr15	23932274	23932274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggtcgcggacggaggaacccCctccgaaaccccagggctgc	14	16	0	0	rs201121842		TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr15:23932274C>T	ENST00000331837.4	-	1	176	c.91G>A	c.(91-93)Ggg>Agg	p.G31R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	31					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAGGAACCCCCTCCGAAACC	0.687									Prader-Willi syndrome				C|||	1	0.000199681	0	0	5008	,	,		6825	0.001		0	False		,,,				2504	0					ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(91-93)Ggg>Agg		necdin, melanoma antigen (MAGE) family member							14	14	14					15																	23932274		1713	3439	5152	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932274C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.91G>A	15.37:g.23932274C>T	ENSP00000332643:p.Gly31Arg						p.G31R	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	176	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	31					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.91G>A	CCDS10014.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.37	2.514040	0.44763	.	.	ENSG00000182636	ENST00000331837	T	0.02498	4.27	3.75	3.75	0.43078	.	13.163000	0.00166	N	0.000009	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.34722	0.188	T	0.40496	-0.9560	10	0.29301	T	0.29	.	11.7812	0.52016	0.0:1.0:0.0:0.0	.	31	Q99608	NECD_HUMAN	R	31	ENSP00000332643:G31R	ENSP00000332643:G31R	G	-	1	0	NDN	21483367	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	-0.035000	0.12205	2.026000	0.59711	0.561000	0.74099	GGG		0.687	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		11	21	0	0	0	1	0	11	21					T	23932274	C	T	23932274	3	4	147	1	0	0	0	0	1	0	0	0	10247	623	22	3	878	3	NDN	15	23932274	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		23932274	78599118	15	2628										
MSLNL	401827	broad.mit.edu	37	chr16	832030	832030	+	Intron	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	tcccagggcaggaaggtgctGgggccaagggcagtgggtcc							TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr16:832030delG	ENST00000442466.1	-	1	37				MSLNL_ENST00000293892.3_Frame_Shift_Del_p.P31fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGAAGGTGCTGGGGCCAAGGG	0.662																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(91-93)ccfs		mesothelin-like							41	49	46					16																	832030		2151	4254	6405	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:832030delG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.37+1303C>-	16.37:g.832030delG						MSLNL_ENST00000442466.1_Intron	p.P31fs			Q96KJ4	MSLNL_HUMAN			2	92	-			0						Frame_Shift_Del	DEL	ENST00000442466.1	37	c.93delC																																																																																					0.662	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		2	4						2	4	---	---	---	---	-	832030	G	-	832030	6	5	147	0	1	1	0	1	0	0	0	0	9882	1335	47	0		0	MSLNL	16	832030	Intron	DEL	G	TCGA-WB-A80O-01A-11D-A35I-08		832030	89522723	16	2629										
USP14	9097	broad.mit.edu	37	chr18	158712	158712	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	ccccgccatgccgctctactCcggtgagccctgtcctggcc							TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr18:158712delC	ENST00000261601.7	+	1	105	c.14delC	c.(13-15)tccfs	p.S5fs	USP14_ENST00000383589.2_Frame_Shift_Del_p.S5fs|USP14_ENST00000400266.3_Frame_Shift_Del_p.S5fs|USP14_ENST00000582707.1_Frame_Shift_Del_p.S5fs	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	5	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCGCTCTACTCCGGTGAGCCC	0.766																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(13-15)tcfs		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							3	3	3					18																	158712		1642	3386	5028	SO:0001589	frameshift_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:158712delC	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.14delC	18.37:g.158712delC	ENSP00000261601:p.Ser5fs					USP14_ENST00000582707.1_Frame_Shift_Del_p.S5fs|USP14_ENST00000400266.3_Frame_Shift_Del_p.S5fs|USP14_ENST00000383589.2_Frame_Shift_Del_p.S5fs	p.S5fs	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			1	105	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	5			Ubiquitin-like.		J3QRZ5|Q53XY5	Frame_Shift_Del	DEL	ENST00000261601.7	37	c.14delC	CCDS32780.1																																																																																				0.766	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		2	4						2	4	---	---	---	---	-	158712	C	-	158712	7	5	147	1	0	1	0	1	0	0	0	0	17042	855	30	0	16	0	USP14	18	158712	Frame_Shift_Del	DEL	C	TCGA-WB-A80O-01A-11D-A35I-08		158712	77918536	17	2630										
CYP2A6	1548	broad.mit.edu	37	chr19	41354569	41354569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcccgcctcctcctggatgCgctcctcgatgcctcgcttg	10	18	0	0			TCGA-WB-A80O-01A-11D-A35I-08	TCGA-WB-A80O-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92	8170c6e0-56f4-4b2d-97c0-fce7f75ec117	g.chr19:41354569C>T	ENST00000301141.5	-	3	463	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	148					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCCTGGATGCGCTCCTCGAT	0.692																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(442-444)cGc>cAc		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						40	43	42					19																	41354569		2203	4299	6502	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41354569C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.443G>A	19.37:g.41354569C>T	ENSP00000301141:p.Arg148His					CTC-490E21.12_ENST00000601627.1_Intron	p.R148H	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	463	-			148					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.443G>A	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	22.6	4.316606	0.81469	.	.	ENSG00000255974	ENST00000301141	T	0.69926	-0.44	2.95	2.95	0.34219	.	0.066533	0.64402	U	0.000010	T	0.70657	0.3249	L	0.31578	0.945	0.27654	N	0.947303	D	0.89917	1.0	D	0.77557	0.99	T	0.64875	-0.6304	10	0.72032	D	0.01	.	12.796	0.57560	0.0:1.0:0.0:0.0	.	148	P11509	CP2A6_HUMAN	H	148	ENSP00000301141:R148H	ENSP00000301141:R148H	R	-	2	0	CYP2A6	46046409	0.001000	0.12720	0.975000	0.42487	0.336000	0.28762	1.089000	0.30890	1.487000	0.48415	0.386000	0.25728	CGC		0.692	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		3	40	0	0	0	1	0	3	40					T	41354569	C	T	41354569	3	4	147	1	0	0	0	0	1	0	0	0	4162	768	27	1	1069	1	CYP2A6	19	41354569	Missense_Mutation	SNP	C	TCGA-WB-A80O-01A-11D-A35I-08		41354569	17774414	18	2631										
NR0B2	8431	broad.mit.edu	37	chr1	27238482	27238482	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgggtcaggcggccttgggCtgctgggcaccagggttcca	17	12	1	0			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr1:27238482C>A	ENST00000254227.3	-	2	653	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	210	Ligand-binding. {ECO:0000250}.				cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCTTGGGCTGCTGGGCAC	0.632																																						ENST00000254227.3																			0				NS(1)|large_intestine(1)|lung(3)	5						c.(628-630)Gcc>Tcc		nuclear receptor subfamily 0, group B, member 2							100	102	101					1																	27238482		2203	4300	6503	SO:0001583	missense	8431				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity	g.chr1:27238482C>A	AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"Nuclear hormone receptors"	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.628G>T	1.37:g.27238482C>A	ENSP00000254227:p.Ala210Ser						p.A210S	NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	653	-		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	210			Ligand-binding (By similarity).		F1D8P5|Q5QP36	Missense_Mutation	SNP	ENST00000254227.3	37	c.628G>T	CCDS291.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626583	0.28978	.	.	ENSG00000131910	ENST00000254227	D	0.96104	-3.91	6.04	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.392944	0.32190	N	0.006444	D	0.86447	0.5935	N	0.02011	-0.69	0.25419	N	0.988289	B	0.06786	0.001	B	0.04013	0.001	T	0.77490	-0.2568	10	0.41790	T	0.15	-14.4401	12.746	0.57281	0.0:0.9237:0.0:0.0763	.	210	Q15466	NR0B2_HUMAN	S	210	ENSP00000254227:A210S	ENSP00000254227:A210S	A	-	1	0	NR0B2	27111069	0.995000	0.38212	1.000000	0.80357	0.656000	0.38851	3.334000	0.52097	1.539000	0.49286	0.561000	0.74099	GCC		0.632	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1			3	33	1	0	0.004672	1	0.004964	3	33					A	27238482	C	A	27238482	3	1	148	1	0	0	0	0	1	0	0	0	10614	797	28	5	149	5	NR0B2	1	27238482	Missense_Mutation	SNP	C	TCGA-WB-A80P-01A-11D-A35I-08		27238482	222012139	1	2632										
ZNF385D	79750	broad.mit.edu	37	chr3	21462776	21462776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagctggccgcaggagtgccGgaggaagcgcggaagtctgg	20	9	1	0			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:21462776G>A	ENST00000281523.2	-	8	1636	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	373						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAGGAGTGCCGGAGGAAGCGC	0.562																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(1117-1119)cCg>cTg		zinc finger protein 385D							57	55	55					3																	21462776		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21462776G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.1118C>T	3.37:g.21462776G>A	ENSP00000281523:p.Pro373Leu						p.P373L	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			8	1636	-			373						Missense_Mutation	SNP	ENST00000281523.2	37	c.1118C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714033	0.48622	.	.	ENSG00000151789	ENST00000281523	T	0.34072	1.38	5.8	4.91	0.64330	.	0.299818	0.37715	N	0.001979	T	0.29256	0.0728	L	0.39245	1.2	0.21445	N	0.999689	B	0.33857	0.429	B	0.17433	0.018	T	0.21484	-1.0244	10	0.72032	D	0.01	-39.3112	16.1282	0.81408	0.0:0.0:0.8653:0.1347	.	373	Q9H6B1	Z385D_HUMAN	L	373	ENSP00000281523:P373L	ENSP00000281523:P373L	P	-	2	0	ZNF385D	21437780	1.000000	0.71417	0.141000	0.22245	0.918000	0.54935	4.473000	0.60196	1.412000	0.46977	0.557000	0.71058	CCG		0.562	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		7	24	0	0	0	1	0	7	24					A	21462776	G	A	21462776	3	1	148	1	0	0	0	0	1	0	0	0	17875	1116	39	2	73	2	ZNF385D	3	21462776	Missense_Mutation	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08		21462776	176559654	2	2633										
ITIH1	3697	broad.mit.edu	37	chr3	52812034	52812034	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcgacaggctgtggacaccGtgagtaagagtcctggcaaa	14	9	0	2			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr3:52812034G>A	ENST00000273283.2	+	2	162		c.e2+1		ITIH1_ENST00000537050.1_5'Flank|ITIH1_ENST00000540715.1_5'Flank|ITIH1_ENST00000542827.1_Splice_Site	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.e2+1		inter-alpha-trypsin inhibitor heavy chain 1							118	108	112					3																	52812034		2203	4300	6503	SO:0001630	splice_region_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52812034G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.138+1G>A	3.37:g.52812034G>A						ITIH1_ENST00000542827.1_Splice_Site		NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	2	162	+								A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Splice_Site	SNP	ENST00000273283.2	37		CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164318	0.57476	.	.	ENSG00000055957	ENST00000542827;ENST00000273283	.	.	.	4.72	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7005	0.45924	0.0916:0.0:0.9084:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITIH1	52787074	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	2.924000	0.48876	1.329000	0.45376	0.655000	0.94253	.		0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	Intron	26	48	0	0	0	1	0	26	48					A	52812034	G	A	52812034	5	1	148	1	0	0	0	0	0	0	1	0	7903	1159	40	1	145	1	ITIH1	3	52812034	Splice_Site	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08	31349258	52812034	145210396	3	2634										
RP1L1	94137	broad.mit.edu	37	chr8	10480359	10480359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggggtttctctcctgtggcCggcctggtccactgggggtc	16	12	1	0	rs557203614		TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr8:10480359C>T	ENST00000382483.3	-	2	576	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	118	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCTGTGGCCGGCCTGGTCC	0.637																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(352-354)cGg>cAg		retinitis pigmentosa 1-like 1							16	17	17					8																	10480359		1943	4113	6056	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480359C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.353G>A	8.37:g.10480359C>T	ENSP00000371923:p.Arg118Gln					RP1L1_ENST00000329335.3_5'UTR	p.R118Q	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	576	-			118					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.353G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	9.610	1.131145	0.21041	.	.	ENSG00000183638	ENST00000382483	T	0.04603	3.59	4.32	-2.03	0.07365	.	.	.	.	.	T	0.01870	0.0059	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.17979	0.02	T	0.46428	-0.9192	9	0.24483	T	0.36	-0.6815	2.4179	0.04440	0.1121:0.383:0.1216:0.3833	.	118	A6NKC6	.	Q	118	ENSP00000371923:R118Q	ENSP00000371923:R118Q	R	-	2	0	RP1L1	10517769	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.567000	0.05916	-0.382000	0.07870	0.556000	0.70494	CGG		0.637	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	18	0	0	0	1	0	9	18					T	10480359	C	T	10480359	3	4	148	1	0	0	0	0	1	0	0	0	13533	652	23	2	6861	2	RP1L1	8	10480359	Missense_Mutation	SNP	C	TCGA-WB-A80P-01A-11D-A35I-08		10480359	135883663	4	2635										
CCNDBP1	23582	broad.mit.edu	37	chr15	43483811	43483811	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	atgttagtggcagagaatggGaagaaggatcaggtggcaca	16	4	1	2			TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr15:43483811G>C	ENST00000300213.4	+	8	1040	c.798G>C	c.(796-798)ggG>ggC	p.G266G	CCNDBP1_ENST00000356633.5_Silent_p.G105G|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	266	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CAGAGAATGGGAAGAAGGATC	0.502																																						ENST00000300213.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(796-798)ggG>ggC		cyclin D-type binding-protein 1							98	88	92					15																	43483811		2203	4299	6502	SO:0001819	synonymous_variant	23582				cell cycle	cytoplasm|nucleus	protein binding	g.chr15:43483811G>C	AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"D-type cyclin-interacting protein 1", "MAID protein", "HHM Protein", "grap2 cyclin interacting protein"	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.798G>C	15.37:g.43483811G>C						EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Silent_p.G105G	p.G266G	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN		GBM - Glioblastoma multiforme(94;8.42e-07)	8	1040	+		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	266			Interaction with RPLP0.|Interaction with TCF3.		A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	c.798G>C	CCDS10092.1																																																																																				0.502	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142		19	21	0	0	0	1	0	19	21					C	43483811	G	C	43483811	2	2	148	1	0	0	0	0	0	0	0	1	2919	1161	41	5		5	CCNDBP1	15	43483811	Silent	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08		43483811	59047581	5	2636										
KIR3DL1	3811	broad.mit.edu	37	chr19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	aggtgacatacgcacagttgGatcactgcgttttcacacag	10	10	2	1	rs201105125	byFrequency	TCGA-WB-A80P-01A-11D-A35I-08	TCGA-WB-A80P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b738a6fa-3913-4871-a238-8d35eb83ab7a	3fa2967a-2520-49b6-b916-8602676679ab	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	402					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													.|||	12	0.00239617	0.0038	0.0014	5008	,	,		15574	0		0.005	False		,,,				2504	0.001					ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1204-1206)Gat>Aat		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							269	244	253					19																	55341599		2171	4171	6342	SO:0001583	missense	3811							g.chr19:55341599G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1204G>A	19.37:g.55341599G>A	ENSP00000375608:p.Asp402Asn					KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N	p.D402N	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1237	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1204G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	4.019	0.000930	0.07819	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00470	7.3;7.2;7.3;7.2;7.28	0.719	-0.453	0.12201	.	.	.	.	.	T	0.00300	0.0009	L	0.31476	0.935	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.14578	0.011;0.008;0.007	T	0.35051	-0.9804	8	0.42905	T	0.14	.	.	.	.	.	385;307;402	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	N	402;385;380;402;385;307	ENSP00000443350:D402N;ENSP00000442355:D385N;ENSP00000375608:D402N;ENSP00000326868:D385N;ENSP00000350901:D307N	ENSP00000326868:D385N	D	+	1	0	KIR3DL1	60033411	0.003000	0.15002	0.001000	0.08648	0.025000	0.11179	0.526000	0.22971	-0.130000	0.11599	0.184000	0.17185	GAT		0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		4	159	0	0	0	1	0	4	159					A	55341599	G	A	55341599	3	1	148	1	0	0	0	0	1	0	0	0	8320	1174	41	3	1238	3	KIR3DL1	19	55341599	Missense_Mutation	SNP	G	TCGA-WB-A80P-01A-11D-A35I-08		55341599	3787384	6	2637										
PLEKHM2	23207	broad.mit.edu	37	chr1	16046372	16046372	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaactccgtcacctccacCaacctggagtgggatgacag	9	14	2	1			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:16046372C>G	ENST00000375799.3	+	6	836	c.609C>G	c.(607-609)acC>acG	p.T203T	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.T203T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	203	Interaction with KIF5B.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCACCTCCACCAACCTGGAGT	0.557																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(607-609)acC>acG		pleckstrin homology domain containing, family M (with RUN domain) member 2							55	55	55					1																	16046372		2022	4181	6203	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16046372C>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.609C>G	1.37:g.16046372C>G						PLEKHM2_ENST00000375793.2_Silent_p.T203T	p.T203T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	6	836	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	203			Interaction with KIF5B.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.609C>G	CCDS44063.1																																																																																				0.557	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		10	18	0	0	0	1	0	10	18					G	16046372	C	G	16046372	2	3	149	1	0	0	0	0	0	0	0	1	12081	581	21	5		5	PLEKHM2	1	16046372	Silent	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08		16046372	233204249	1	2638										
MYOM3	127294	broad.mit.edu	37	chr1	24435093	24435093	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	ggcctgggggggccgggggtCccccgcacctcccaagctgt							TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:24435093delC	ENST00000374434.3	-	2	196	c.34delG	c.(34-36)gacfs	p.D12fs	MYOM3_ENST00000475306.1_5'Flank|MYOM3_ENST00000329601.7_Frame_Shift_Del_p.D12fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.D12fs	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	12						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCGGGGGTCCCCCGCACCT	0.667																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(34-36)acfs		myomesin 3							8	11	10					1																	24435093		1973	4144	6117	SO:0001589	frameshift_variant	127294							g.chr1:24435093delC	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.34delG	1.37:g.24435093delC	ENSP00000363557:p.Asp12fs					MYOM3_ENST00000329601.7_Frame_Shift_Del_p.D12fs|MYOM3_ENST00000374434.3_Frame_Shift_Del_p.D12fs	p.D12fs			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	2	196	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	12					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Frame_Shift_Del	DEL	ENST00000374434.3	37	c.34delG	CCDS41281.1																																																																																				0.667	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		2	4						2	4	---	---	---	---	-	24435093	C	-	24435093	7	5	149	1	0	1	0	1	0	0	0	0	10093	855	30	0	4423	0	MYOM3	1	24435093	Frame_Shift_Del	DEL	C	TCGA-WB-A80Q-01A-11D-A35I-08	8388721	24435093	224815528	2	2639										
PDE4DIP	9659	broad.mit.edu	37	chr1	144879387	144879387	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagatctttgatgtcctttcGtaggaccaagatgttttctg	9	8	2	3	rs587614214	byFrequency	TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:144879387G>A	ENST00000369354.3	-	27	4252	c.4063C>T	c.(4063-4065)Cga>Tga	p.R1355*	AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R1491*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1355					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R1355*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTCCTTTCGTAGGACCAAG	0.493			T	PDGFRB	MPD								.|||	5	0.000998403	0	0	5008	,	,		38744	0		0	False		,,,				2504	0.0051					ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Nonsense(2)	p.R1355*(2)	kidney(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4471-4473)Cga>Tga		phosphodiesterase 4D interacting protein							199	221	213					1																	144879387		2203	4299	6502	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879387G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4063C>T	1.37:g.144879387G>A	ENSP00000358360:p.Arg1355*					PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|PDE4DIP_ENST00000524974.1_5'UTR	p.R1491*			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4509	-			1355					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.4471C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	39	7.892681	0.98548	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	5.08	0.624	0.17659	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3363	0.15959	0.1585:0.0:0.4957:0.3458	.	.	.	.	X	1311;1355;1355;1491;1491	.	ENSP00000327209:R1311X	R	-	1	2	PDE4DIP	143590744	0.003000	0.15002	0.000000	0.03702	0.051000	0.14879	1.309000	0.33539	-0.042000	0.13535	-0.131000	0.14894	CGA		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	405	0	0	0	1	0	5	405					A	144879387	G	A	144879387	4	1	149	1	0	0	0	0	0	1	0	0	11643	1153	40	1	3049	1	PDE4DIP	1	144879387	Nonsense_Mutation	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08	120444294	144879387	104371234	3	2640										
DNMT3A	1788	broad.mit.edu	37	chr2	25470489	25470489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttgccgtctccgaaccacaTgacccagcgggtgccttcag	10	15	2	1			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:25470489T>G	ENST00000264709.3	-	8	1322	c.985A>C	c.(985-987)Atg>Ctg	p.M329L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.M106L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M329L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M140L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	329	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAACCACATGACCCAGCGG	0.617			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(985-987)Atg>Ctg		DNA (cytosine-5-)-methyltransferase 3 alpha							139	149	145					2																	25470489		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470489T>G		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.985A>C	2.37:g.25470489T>G	ENSP00000264709:p.Met329Leu					DNMT3A_ENST00000402667.1_Missense_Mutation_p.M106L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M140L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M329L	p.M329L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			8	1322	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		329			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.985A>C	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466928	0.63625	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.97	4.97	0.65823	PWWP (3);	0.040150	0.85682	D	0.000000	T	0.62466	0.2430	L	0.51422	1.61	0.80722	D	1	P;B	0.42785	0.79;0.292	B;B	0.41440	0.357;0.165	T	0.64537	-0.6384	10	0.41790	T	0.15	-12.528	13.6031	0.62031	0.0:0.0:0.0:1.0	.	329;140	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	140;329;329;106	ENSP00000370122:M140L;ENSP00000324375:M329L;ENSP00000264709:M329L;ENSP00000384237:M106L	ENSP00000264709:M329L	M	-	1	0	DNMT3A	25323993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.179000	0.50887	2.088000	0.63022	0.379000	0.24179	ATG		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		15	46	0	0	0	1	0	15	46					G	25470489	T	G	25470489	3	3	149	1	0	0	0	0	1	0	0	0	4676	1464	51	5	1817	5	DNMT3A	2	25470489	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08		25470489	217728884	4	2641										
VWA3B	200403	broad.mit.edu	37	chr2	98928751	98928751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccacctcgagcagccctgcCctgtactctccaagccaccc	6	21	1	0			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:98928751C>G	ENST00000477737.1	+	28	4028	c.3824C>G	c.(3823-3825)cCc>cGc	p.P1275R	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1275										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCAGCCCTGCCCTGTACTCTC	0.627																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3823-3825)cCc>cGc		von Willebrand factor A domain containing 3B							57	67	64					2																	98928751		2112	4219	6331	SO:0001583	missense	200403							g.chr2:98928751C>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3824C>G	2.37:g.98928751C>G	ENSP00000417955:p.Pro1275Arg					VWA3B_ENST00000490947.2_3'UTR	p.P1275R	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			28	4028	+			1275					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3824C>G	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237411	0.39498	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.06687	3.27	4.28	1.52	0.23074	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	0.999999	P	0.41313	0.745	B	0.41988	0.372	T	0.35500	-0.9786	9	0.18276	T	0.48	.	3.9613	0.09412	0.1864:0.6174:0.0:0.1962	.	1275	Q502W6	VWA3B_HUMAN	R	1275;397	ENSP00000417955:P1275R	ENSP00000351009:P397R	P	+	2	0	VWA3B	98295183	0.003000	0.15002	0.011000	0.14972	0.001000	0.01503	0.498000	0.22530	0.353000	0.24079	-0.169000	0.13324	CCC		0.627	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		18	38	0	0	0	1	0	18	38					G	98928751	C	G	98928751	3	3	149	1	0	0	0	0	1	0	0	0	17238	623	22	5	3930	5	VWA3B	2	98928751	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	73458262	98928751	144270622	5	2642										
FIGN	55137	broad.mit.edu	37	chr2	164467612	164467612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcagacggatagctgtaacTggagaggttagaagtcccat	13	7	0	3			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:164467612T>G	ENST00000333129.3	-	3	1044	c.730A>C	c.(730-732)Agt>Cgt	p.S244R	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	244	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGCTGTAACTGGAGAGGTTA	0.612																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(730-732)Agt>Cgt		fidgetin							46	50	49					2																	164467612		1993	4177	6170	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467612T>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.730A>C	2.37:g.164467612T>G	ENSP00000333836:p.Ser244Arg					FIGN_ENST00000409634.1_Intron	p.S244R	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1044	-			244			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.730A>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968934	0.53614	.	.	ENSG00000182263	ENST00000333129	T	0.26810	1.71	6.07	3.72	0.42706	.	0.172208	0.50627	D	0.000108	T	0.22205	0.0535	L	0.44542	1.39	0.49389	D	0.999789	B	0.22414	0.069	B	0.23150	0.044	T	0.05037	-1.0910	10	0.59425	D	0.04	-3.0732	10.1819	0.42972	0.0:0.1336:0.0:0.8664	.	244	Q5HY92	FIGN_HUMAN	R	244	ENSP00000333836:S244R	ENSP00000333836:S244R	S	-	1	0	FIGN	164175858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.192000	0.58378	1.105000	0.41606	0.533000	0.62120	AGT		0.612	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		21	29	0	0	0	1	0	21	29					G	164467612	T	G	164467612	3	3	149	1	0	0	0	0	1	0	0	0	5891	1580	55	5	1553	5	FIGN	2	164467612	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	65538861	164467612	78731761	6	2643										
GPRIN3	285513	broad.mit.edu	37	chr4	90170128	90170128	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cactggctggactcctggggGgctagcgtgctgtcagagag	17	10	1	1			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr4:90170128G>C	ENST00000609438.1	-	2	1652	c.1134C>G	c.(1132-1134)gcC>gcG	p.A378A	GPRIN3_ENST00000333209.4_Silent_p.A378A	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	378			A -> V (in dbSNP:rs6811370).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTCCTGGGGGGCTAGCGTGC	0.562																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1132-1134)gcC>gcG		GPRIN family member 3							63	61	62					4																	90170128		2203	4300	6503	SO:0001819	synonymous_variant	285513							g.chr4:90170128G>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1134C>G	4.37:g.90170128G>C							p.A378A	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1652	-		Hepatocellular(203;0.114)	378		A -> V (in dbSNP:rs6811370).			Q8IVE4	Silent	SNP	ENST00000609438.1	37	c.1134C>G	CCDS34030.1																																																																																				0.562	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		18	62	0	0	0	1	0	18	62					C	90170128	G	C	90170128	2	2	149	1	0	0	0	0	0	0	0	1	6731	1219	43	5		5	GPRIN3	4	90170128	Silent	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08		90170128	100984148	7	2644										
ADH4	127	broad.mit.edu	37	chr4	100063871	100063871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttggggggagctacttcaaCctcttcaatgcaaaggggct	12	10	3	0			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr4:100063871C>T	ENST00000265512.7	-	2	153	c.79G>A	c.(79-81)Gtt>Att	p.V27I	ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Missense_Mutation_p.V46I|ADH4_ENST00000508393.1_Missense_Mutation_p.V46I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V46I	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	27					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GCTACTTCAACCTCTTCAATG	0.507																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(136-138)Gtt>Att		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						70	61	64					4																	100063871		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100063871C>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"Alcohol dehydrogenases"	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.79G>A	4.37:g.100063871C>T	ENSP00000265512:p.Val27Ile					ADH4_ENST00000423445.1_Missense_Mutation_p.V46I|ADH4_ENST00000505590.1_Missense_Mutation_p.V46I|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.V27I|RP11-696N14.1_ENST00000500358.2_RNA	p.V46I			P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	3	301	-			27					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.136G>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	C	5.276	0.236365	0.10023	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.03413	3.94;3.94;3.94;3.94;3.94;3.94	4.16	0.387	0.16259	GroES-like (1);	0.259933	0.29355	N	0.012383	T	0.01905	0.0060	N	0.11845	0.185	0.37784	D	0.927101	B;B	0.02656	0.0;0.0	B;B	0.18561	0.014;0.022	T	0.50516	-0.8819	10	0.08837	T	0.75	-13.8438	8.0188	0.30398	0.0:0.5735:0.0:0.4265	.	46;27	P08319-2;P08319	.;ADH4_HUMAN	I	46;27;46;46;46;27	ENSP00000424630:V46I;ENSP00000265512:V27I;ENSP00000397939:V46I;ENSP00000425416:V46I;ENSP00000423571:V46I;ENSP00000427525:V27I	ENSP00000265512:V27I	V	-	1	0	ADH4	100282894	0.016000	0.18221	0.977000	0.42913	0.993000	0.82548	0.220000	0.17660	-0.071000	0.12886	0.655000	0.94253	GTT		0.507	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		4	79	0	0	0	1	0	4	79					T	100063871	C	T	100063871	3	4	149	1	0	0	0	0	1	0	0	0	310	507	18	3	1095	3	ADH4	4	100063871	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	9893743	100063871	91090405	8	2645										
FRMD4A	55691	broad.mit.edu	37	chr10	13698822	13698822	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	gcgcagctcgtctgagacggCggcacggcccgcgcccttgt							TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr10:13698822delC	ENST00000357447.2	-	22	3135	c.2767delG	c.(2767-2769)gccfs	p.A923fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.A923fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.A908fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	923					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCTGAGACGGCGGCACGGCCC	0.731																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2767-2769)ccfs		FERM domain containing 4A							40	36	38					10																	13698822		2201	4299	6500	SO:0001589	frameshift_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698822delC	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2767delG	10.37:g.13698822delC	ENSP00000350032:p.Ala923fs					FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.A908fs|FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.A923fs	p.A923fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	3135	-			923					A7E2Y3|Q5T377	Frame_Shift_Del	DEL	ENST00000357447.2	37	c.2767delG	CCDS7101.1																																																																																				0.731	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		2	4						2	4	---	---	---	---	-	13698822	C	-	13698822	7	5	149	1	0	1	0	1	0	0	0	0	6051	768	27	0	364	0	FRMD4A	10	13698822	Frame_Shift_Del	DEL	C	TCGA-WB-A80Q-01A-11D-A35I-08		13698822	121835925	9	2646										
NHLRC2	374354	broad.mit.edu	37	chr10	115661652	115661652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtaggaggagaaagagaccCcatggtaatgacagtcactc	12	9	1	3			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr10:115661652C>A	ENST00000369301.3	+	7	1579	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	456										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GAAAGAGACCCCATGGTAATG	0.453																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1366-1368)cCc>cAc		NHL repeat containing 2							83	84	84					10																	115661652		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115661652C>A	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1367C>A	10.37:g.115661652C>A	ENSP00000358307:p.Pro456His						p.P456H	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	7	1579	+			456					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1367C>A	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463737	0.84425	.	.	ENSG00000196865	ENST00000369301	T	0.50813	0.73	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76940	-0.2773	10	0.54805	T	0.06	-12.7339	17.8573	0.88769	0.0:1.0:0.0:0.0	.	456	Q8NBF2	NHLC2_HUMAN	H	456	ENSP00000358307:P456H	ENSP00000358307:P456H	P	+	2	0	NHLRC2	115651642	1.000000	0.71417	0.999000	0.59377	0.633000	0.38033	7.786000	0.85741	2.634000	0.89283	0.655000	0.94253	CCC		0.453	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		39	54	1	0	4.92203e-23	1	4.92203e-23	39	54					A	115661652	C	A	115661652	3	1	149	1	0	0	0	0	1	0	0	0	10406	623	22	5	1393	5	NHLRC2	10	115661652	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	101962830	115661652	19873095	10	2647										
MGAT2	4247	broad.mit.edu	37	chr14	50088617	50088617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgctttgaaattggggtgcAtcaatgctgagtatcccgac	11	10	1	2			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:50088617A>G	ENST00000305386.2	+	1	1129	c.631A>G	c.(631-633)Atc>Gtc	p.I211V	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	211					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATTGGGGTGCATCAATGCTGA	0.493																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(631-633)Atc>Gtc		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							110	107	108					14																	50088617		2203	4300	6503	SO:0001583	missense	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088617A>G	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.631A>G	14.37:g.50088617A>G	ENSP00000307423:p.Ile211Val					RP11-649E7.5_ENST00000555043.1_RNA	p.I211V	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	1129	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		211					B3KPC5|B3KQM0	Missense_Mutation	SNP	ENST00000305386.2	37	c.631A>G	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210774	0.39102	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.85955	-2.05	6.0	3.48	0.39840	.	0.099783	0.64402	D	0.000003	T	0.74772	0.3760	L	0.33137	0.985	0.34259	D	0.679675	B	0.21452	0.056	B	0.25405	0.06	T	0.70335	-0.4900	10	0.17369	T	0.5	-12.8012	8.3401	0.32239	0.6439:0.2364:0.0:0.1197	.	211	Q10469	MGAT2_HUMAN	V	211;217	ENSP00000307423:I211V	ENSP00000307423:I211V	I	+	1	0	MGAT2	49158367	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.808000	0.69165	1.063000	0.40649	0.454000	0.30748	ATC		0.493	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		39	71	0	0	0	1	0	39	71					G	50088617	A	G	50088617	3	3	149	1	0	0	0	0	1	0	0	0	9543	217	8	4	633	4	MGAT2	14	50088617	Missense_Mutation	SNP	A	TCGA-WB-A80Q-01A-11D-A35I-08		50088617	57260923	11	2648										
BMP4	652	broad.mit.edu	37	chr14	54417562	54417562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gctgaggttaaagaggaaacGaaaagcagagttttcactgg	13	5	1	3			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:54417562G>A	ENST00000245451.4	-	4	808	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C|BMP4_ENST00000558984.1_Missense_Mutation_p.R139C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	139					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAGAGGAAACGAAAAGCAGAG	0.498																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(415-417)Cgt>Tgt		bone morphogenetic protein 4							62	56	58					14																	54417562		2201	4291	6492	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417562G>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"Bone morphogenetic proteins", "Endogenous ligands"	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.415C>T	14.37:g.54417562G>A	ENSP00000245451:p.Arg139Cys					BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C|BMP4_ENST00000558984.1_Missense_Mutation_p.R139C	p.R139C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	808	-			139					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.415C>T	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474804	0.63737	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.66995	-0.24;-0.24	5.37	5.37	0.77165	Transforming growth factor-beta, N-terminal (1);	0.048867	0.85682	D	0.000000	D	0.84620	0.5512	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86766	0.1970	10	0.87932	D	0	.	18.2734	0.90076	0.0:0.0:1.0:0.0	.	139	P12644	BMP4_HUMAN	C	139	ENSP00000245451:R139C;ENSP00000394165:R139C	ENSP00000245451:R139C	R	-	1	0	BMP4	53487312	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	CGT		0.498	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		6	65	0	0	0	1	0	6	65					A	54417562	G	A	54417562	3	1	149	1	0	0	0	0	1	0	0	0	1462	1058	37	2	815	2	BMP4	14	54417562	Missense_Mutation	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08	4328945	54417562	52931978	12	2649										
ADAM20	8748	broad.mit.edu	37	chr14	70989772	70989772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattgggaattactcccacaTtttcacactgaaccctccca	5	14	1	1	rs374663773		TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:70989772T>A	ENST00000256389.3	-	2	2097	c.1853A>T	c.(1852-1854)aAt>aTt	p.N618I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	568	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TACTCCCACATTTTCACACTG	0.453																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1852-1854)aAt>aTt		ADAM metallopeptidase domain 20							167	102	124					14																	70989772		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989772T>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1853A>T	14.37:g.70989772T>A	ENSP00000256389:p.Asn618Ile					RP11-486O13.4_ENST00000556646.1_lincRNA	p.N618I	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2097	-			568			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1853A>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082481	0.55861	.	.	ENSG00000134007	ENST00000256389	T	0.24151	1.87	4.66	3.52	0.40303	ADAM, cysteine-rich (2);	0.168845	0.27109	N	0.020888	T	0.55816	0.1944	M	0.91872	3.25	0.25498	N	0.987588	D	0.89917	1.0	D	0.83275	0.996	T	0.53514	-0.8428	10	0.87932	D	0	.	9.849	0.41046	0.0:0.083:0.0:0.917	.	568	O43506	ADA20_HUMAN	I	618	ENSP00000256389:N618I	ENSP00000256389:N618I	N	-	2	0	ADAM20	70059525	1.000000	0.71417	0.982000	0.44146	0.617000	0.37484	4.364000	0.59479	0.744000	0.32741	0.455000	0.32223	AAT		0.453	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			19	42	0	0	0	1	0	19	42					A	70989772	T	A	70989772	3	1	149	1	0	0	0	0	1	0	0	0	242	1493	52	5	481	5	ADAM20	14	70989772	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	16572210	70989772	36359768	13	2650										
LGMN	5641	broad.mit.edu	37	chr14	93182496	93182496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attacctcttcaggactttgCcggatcctatgcccttcact	6	14	3	0			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:93182496C>T	ENST00000393218.2	-	6	726	c.389G>A	c.(388-390)gGc>gAc	p.G130D	LGMN_ENST00000555699.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D|LGMN_ENST00000557434.1_Missense_Mutation_p.G130D	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	130					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CAGGACTTTGCCGGATCCTAT	0.468																																						ENST00000393218.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18						c.(388-390)gGc>gAc		legumain							174	151	159					14																	93182496		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93182496C>T	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"protease, cysteine, 1 (legumain)"	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.389G>A	14.37:g.93182496C>T	ENSP00000376911:p.Gly130Asp					LGMN_ENST00000555699.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D|LGMN_ENST00000557434.1_Missense_Mutation_p.G130D	p.G130D	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	6	726	-		all_cancers(154;0.0706)	130					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.389G>A	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916451	0.73098	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802	T;T;T;T;T	0.50813	0.76;0.73;0.78;0.73;0.82	5.51	5.51	0.81932	.	0.200813	0.52532	D	0.000069	T	0.79505	0.4457	H	0.95079	3.62	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.987;0.996	D	0.85224	0.1028	10	0.87932	D	0	-26.1505	19.3815	0.94540	0.0:1.0:0.0:0.0	.	130;130;130	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	D	130;130;130;130;130;130;107;95;121	ENSP00000451861:G130D;ENSP00000334052:G130D;ENSP00000452572:G130D;ENSP00000376911:G130D;ENSP00000450854:G121D	ENSP00000262004:G130D	G	-	2	0	LGMN	92252249	1.000000	0.71417	0.913000	0.36048	0.382000	0.30200	5.340000	0.65958	2.765000	0.95021	0.655000	0.94253	GGC		0.468	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		4	139	0	0	0	1	0	4	139					T	93182496	C	T	93182496	3	4	149	1	0	0	0	0	1	0	0	0	8755	739	26	3	952	3	LGMN	14	93182496	Missense_Mutation	SNP	C	TCGA-WB-A80Q-01A-11D-A35I-08	22192724	93182496	14167044	14	2651										
KCNJ16	3773	broad.mit.edu	37	chr17	68128236	68128236	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggcacagcaaagaatgagctAttacggcagcagctatcata	10	9	1	2			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr17:68128236A>G	ENST00000589377.1	+	2	171	c.8A>G	c.(7-9)tAt>tGt	p.Y3C	KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000585558.1_Missense_Mutation_p.Y38C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y42C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y3C	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	3					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGAATGAGCTATTACGGCAGC	0.428																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(112-114)tAt>tGt		potassium inwardly-rectifying channel, subfamily J, member 16							53	48	50					17																	68128236		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128236A>G	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.8A>G	17.37:g.68128236A>G	ENSP00000465967:p.Tyr3Cys					KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y42C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y3C	p.Y38C			Q9NPI9	IRK16_HUMAN			4	501	+	Breast(10;2.96e-09)		3						Missense_Mutation	SNP	ENST00000589377.1	37	c.113A>G	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.555751	0.45487	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.90324	-2.65;-2.65;-2.65	5.99	4.9	0.64082	.	0.494637	0.20141	N	0.098363	D	0.82797	0.5115	N	0.24115	0.695	0.36786	D	0.884605	P;P	0.52463	0.953;0.758	B;B	0.39971	0.315;0.161	T	0.82633	-0.0361	9	.	.	.	.	11.8814	0.52578	0.7225:0.2775:0.0:0.0	.	3;3	A8K434;Q9NPI9	.;IRK16_HUMAN	C	3	ENSP00000283936:Y3C;ENSP00000376439:Y3C;ENSP00000376438:Y3C	.	Y	+	2	0	KCNJ16	65639831	0.580000	0.26733	0.998000	0.56505	0.597000	0.36814	1.788000	0.38714	1.061000	0.40601	-0.321000	0.08615	TAT		0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		9	20	0	0	0	1	0	9	20					G	68128236	A	G	68128236	3	3	149	1	0	0	0	0	1	0	0	0	8050	449	16	4	10	4	KCNJ16	17	68128236	Missense_Mutation	SNP	A	TCGA-WB-A80Q-01A-11D-A35I-08		68128236	13066974	15	2652										
EIF3G	8666	broad.mit.edu	37	chr19	10229616	10229616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttccgttgatgacctccttGggaggcggcagtggagctgg	16	9	0	2			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr19:10229616G>A	ENST00000253108.4	-	4	210	c.168C>T	c.(166-168)ccC>ccT	p.P56P	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGACCTCCTTGGGAGGCGGCA	0.582																																					Colon(124;1100 1638 3822 4510 4876)	ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(166-168)ccC>ccT		eukaryotic translation initiation factor 3, subunit G							93	71	78					19																	10229616		2203	4300	6503	SO:0001819	synonymous_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10229616G>A	U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"RNA binding motif (RRM) containing"	3274	protein-coding gene	gene with protein product		603913	"eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.168C>T	19.37:g.10229616G>A						EIF3G_ENST00000587168.1_5'UTR	p.P56P	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		4	210	-			56						Silent	SNP	ENST00000253108.4	37	c.168C>T	CCDS12227.1																																																																																				0.582	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451144.1			14	26	0	0	0	1	0	14	26					A	10229616	G	A	10229616	2	1	149	1	0	0	0	0	0	0	0	1	5017	1335	47	3		3	EIF3G	19	10229616	Silent	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08		10229616	48899367	16	2653										
ATP13A1	57130	broad.mit.edu	37	chr19	19768144	19768144	+	Splice_Site	DEL	C	C	-													0	0	1	0	0	0	1	1	0	gggccagagctgctgctttaCctgaaatacaaagaaggggg							TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr19:19768144delC	ENST00000357324.6	-	4	777		c.e4+1		ATP13A1_ENST00000291503.5_Splice_Site|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGCTTTACCTGAAATACA	0.567																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.e4+1		ATPase type 13A1							53	48	49					19																	19768144		2198	4294	6492	SO:0001630	splice_region_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19768144delC	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.750+1G>-	19.37:g.19768144delC						ATP13A1_ENST00000291503.5_Splice_Site		NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			4	777	-								B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Splice_Site	DEL	ENST00000357324.6	37		CCDS32970.2																																																																																				0.567	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	Intron	2	4						2	4	---	---	---	---	-	19768144	C	-	19768144	8	5	149	1	0	1	0	1	0	0	1	0	1123	521	18	0	2955	0	ATP13A1	19	19768144	Splice_Site	DEL	C	TCGA-WB-A80Q-01A-11D-A35I-08	9538528	19768144	39360839	17	2654										
PLCB4	5332	broad.mit.edu	37	chr20	9389817	9389817	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagatggtttcactgaactAtcaaaccccaggtaggagct	9	11	2	2			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr20:9389817A>G	ENST00000378493.1	+	20	1967	c.1952A>G	c.(1951-1953)tAt>tGt	p.Y651C	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.Y651C|PLCB4_ENST00000378473.3_Missense_Mutation_p.Y663C|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y651C|PLCB4_ENST00000414679.2_Missense_Mutation_p.Y663C|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y651C			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	651	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCACTGAACTATCAAACCCCA	0.502																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1951-1953)tAt>tGt		phospholipase C, beta 4							52	44	47					20																	9389817		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389817A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1952A>G	20.37:g.9389817A>G	ENSP00000367754:p.Tyr651Cys					PLCB4_ENST00000378473.3_Missense_Mutation_p.Y663C|PLCB4_ENST00000414679.2_Missense_Mutation_p.Y663C|PLCB4_ENST00000378493.1_Missense_Mutation_p.Y651C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y651C|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y651C	p.Y651C	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1967	+			651			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1952A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700987	0.48307	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.92	5.92	0.95590	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.106935	0.64402	D	0.000005	D	0.83358	0.5237	M	0.89601	3.045	0.58432	D	0.999997	B;D;D;B	0.71674	0.001;0.998;0.992;0.003	B;P;P;B	0.60345	0.005;0.818;0.873;0.003	D	0.86808	0.1996	10	0.66056	D	0.02	.	16.3544	0.83230	1.0:0.0:0.0:0.0	.	663;498;651;651	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	C	651;663;651;651;651;499	ENSP00000334105:Y651C;ENSP00000367734:Y663C;ENSP00000278655:Y651C;ENSP00000367754:Y651C;ENSP00000367762:Y651C;ENSP00000390616:Y499C	ENSP00000278655:Y651C	Y	+	2	0	PLCB4	9337817	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.712000	0.68407	2.265000	0.75225	0.459000	0.35465	TAT		0.502	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	26	0	0	0	1	0	16	26					G	9389817	A	G	9389817	3	3	149	1	0	0	0	0	1	0	0	0	12030	449	16	4	2070	4	PLCB4	20	9389817	Missense_Mutation	SNP	A	TCGA-WB-A80Q-01A-11D-A35I-08		9389817	53635703	18	2655										
TTPAL	79183	broad.mit.edu	37	chr20	43113157	43113157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttttatagccaaaaaggtgaTtggcatcctccaggtaagac	9	8	0	2			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr20:43113157T>C	ENST00000372904.3	+	4	769	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TTPAL_ENST00000262605.4_Missense_Mutation_p.I209T|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	209	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.I209T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAAAAGGTGATTGGCATCCTC	0.468																																						ENST00000372904.3																			1	Substitution - Missense(1)	p.I209T(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.(625-627)aTt>aCt		tocopherol (alpha) transfer protein-like							109	96	101					20																	43113157		2203	4300	6503	SO:0001583	missense	79183					intracellular	transporter activity	g.chr20:43113157T>C	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.626T>C	20.37:g.43113157T>C	ENSP00000361995:p.Ile209Thr					TTPAL_ENST00000262605.4_Missense_Mutation_p.I209T|TTPAL_ENST00000372906.2_Intron	p.I209T	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN			4	769	+			209			CRAL-TRIO.		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	ENST00000372904.3	37	c.626T>C	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903446	0.52333	.	.	ENSG00000124120	ENST00000262605;ENST00000372904	T;T	0.78481	-1.18;-1.18	6.05	6.05	0.98169	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.047558	0.85682	D	0.000000	T	0.65852	0.2731	N	0.20610	0.595	0.80722	D	1	B	0.31153	0.31	B	0.27887	0.084	T	0.64491	-0.6395	10	0.36615	T	0.2	-13.8835	16.5932	0.84781	0.0:0.0:0.0:1.0	.	209	Q9BTX7	TTPAL_HUMAN	T	209	ENSP00000262605:I209T;ENSP00000361995:I209T	ENSP00000262605:I209T	I	+	2	0	TTPAL	42546571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.272000	0.72575	2.320000	0.78422	0.528000	0.53228	ATT		0.468	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		33	66	0	0	0	1	0	33	66					C	43113157	T	C	43113157	3	2	149	1	0	0	0	0	1	0	0	0	16734	1493	52	4	632	4	TTPAL	20	43113157	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	33723340	43113157	19912363	19	2656										
SAT1	6303	broad.mit.edu	37	chrX	23803819	23803819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ataggttgcaatgaggtgtcGctgcagcagcatgcacttct	12	9	1	1			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chrX:23803819G>A	ENST00000379270.4	+	6	541	c.362G>A	c.(361-363)cGc>cAc	p.R121H	SAT1_ENST00000379254.1_Missense_Mutation_p.R93H|SAT1_ENST00000489394.1_3'UTR|RP13-314C10.5_ENST00000366134.2_RNA	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						ATGAGGTGTCGCTGCAGCAGC	0.418																																						ENST00000379270.4																			0				breast(1)|endometrium(3)|kidney(3)|lung(3)	10						c.(361-363)cGc>cAc		spermidine/spermine N1-acetyltransferase 1	Spermine(DB00127)						117	110	113					X																	23803819		2203	4300	6503	SO:0001583	missense	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23803819G>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"diamine N-acetyltransferase 1"	313020	"spermidine/spermine N1-acetyltransferase"	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.362G>A	X.37:g.23803819G>A	ENSP00000368572:p.Arg121His					SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.R93H	p.R121H	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN			6	541	+			121			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000379270.4	37	c.362G>A	CCDS14207.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031733	0.35797	.	.	ENSG00000130066	ENST00000379270;ENST00000379254	T;T	0.42131	0.98;0.98	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.	.	.	.	T	0.35098	0.0920	N	0.25332	0.735	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06570	-1.0819	9	0.46703	T	0.11	.	18.6745	0.91524	0.0:0.0:1.0:0.0	.	121	P21673	SAT1_HUMAN	H	121;93	ENSP00000368572:R121H;ENSP00000368556:R93H	ENSP00000368556:R93H	R	+	2	0	SAT1	23713740	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.476000	0.97823	2.354000	0.79902	0.594000	0.82650	CGC		0.418	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		4	84	0	0	0	1	0	4	84					A	23803819	G	A	23803819	3	1	149	1	0	0	0	0	1	0	0	0	13851	1087	38	1	384	1	SAT1	23	23803819	Missense_Mutation	SNP	G	TCGA-WB-A80Q-01A-11D-A35I-08		23803819	131466741	20	2657										
RAB40A	142684	broad.mit.edu	37	chrX	102755566	102755566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgagatggctgtacggggacTcagctgcaccatcctgcagg	14	12	1	1			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chrX:102755566T>A	ENST00000372633.1	-	1	2237	c.119A>T	c.(118-120)gAg>gTg	p.E40V	RAB40A_ENST00000304236.1_Missense_Mutation_p.E40V|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	40					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GTACGGGGACTCAGCTGCACC	0.622																																						ENST00000372633.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(118-120)gAg>gTg		RAB40A, member RAS oncogene family							118	105	109					X																	102755566		2203	4300	6503	SO:0001583	missense	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755566T>A	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"RAB, member RAS oncogene"	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.119A>T	X.37:g.102755566T>A	ENSP00000361716:p.Glu40Val					RAB40A_ENST00000304236.1_Missense_Mutation_p.E40V	p.E40V			Q8WXH6	RB40A_HUMAN			1	2237	-			40					O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	c.119A>T	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.146237	0.57044	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	T;T	0.76968	-1.06;-1.06	1.53	1.53	0.23141	Small GTP-binding protein domain (1);	0.000000	0.47455	U	0.000231	T	0.55816	0.1944	N	0.17345	0.48	0.58432	D	0.999995	P	0.39352	0.669	B	0.34931	0.192	T	0.50110	-0.8866	10	0.39692	T	0.17	.	6.8887	0.24216	0.0:0.0:0.0:1.0	.	40	Q8WXH6	RB40A_HUMAN	V	40	ENSP00000361716:E40V;ENSP00000305648:E40V	ENSP00000305648:E40V	E	-	2	0	RAB40A	102642222	1.000000	0.71417	0.017000	0.16124	0.029000	0.11900	5.041000	0.64196	0.580000	0.29522	0.235000	0.17854	GAG		0.622	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			29	76	0	0	0	1	0	29	76					A	102755566	T	A	102755566	3	1	149	1	0	0	0	0	1	0	0	0	12939	1551	54	5	718	5	RAB40A	23	102755566	Missense_Mutation	SNP	T	TCGA-WB-A80Q-01A-11D-A35I-08	78951747	102755566	52514994	21	2658										
CYP4A11	1579	broad.mit.edu	37	chr1	47402419	47402419	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	ggctggggtcagcatccgtcGatgctggaaccatgtctgcc	14	12	2	0			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:47402419G>A	ENST00000310638.4	-	4	458	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000462347.1_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	143					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGCATCCGTCGATGCTGGAAC	0.527																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(427-429)Cga>Tga		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						109	83	92					1																	47402419		2203	4300	6503	SO:0001587	stop_gained	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47402419G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"Cytochrome P450s"	2642	protein-coding gene	gene with protein product		601310	"cytochrome P450, subfamily IVA, polypeptide 11"	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.427C>T	1.37:g.47402419G>A	ENSP00000311095:p.Arg143*					CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143*	p.R143*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			4	458	-			143					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Nonsense_Mutation	SNP	ENST00000310638.4	37	c.427C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	23.1	4.378508	0.82682	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	.	.	.	5.32	2.18	0.27775	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3463	0.38111	0.0665:0.0:0.5742:0.3593	.	.	.	.	X	143;143;143;39	.	ENSP00000311095:R143X	R	-	1	2	CYP4A11	47175006	0.645000	0.27286	0.827000	0.32855	0.672000	0.39443	-0.003000	0.12901	0.573000	0.29400	0.644000	0.83932	CGA		0.527	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		13	3	0	0	0	1	0	13	3					A	47402419	G	A	47402419	4	1	150	1	0	0	0	0	0	1	0	0	4183	1066	37	2	1168	2	CYP4A11	1	47402419	Nonsense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		47402419	201848202	1	2659										
FAM72B	653820	broad.mit.edu	37	chr1	120854564	120854564	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgaagatgtgttaaatatctCagcagaggagtgtattagat	11	3	1	4			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:120854564C>A	ENST00000369390.3	+	4	1257	c.428C>A	c.(427-429)tCa>tAa	p.S143*	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103*	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	143										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTAAATATCTCAGCAGAGGAG	0.269																																						ENST00000369390.3																			0				large_intestine(1)|lung(2)	3						c.(427-429)tCa>tAa		family with sequence similarity 72, member B							50	50	50					1																	120854564		1777	4036	5813	SO:0001587	stop_gained	653820							g.chr1:120854564C>A	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.428C>A	1.37:g.120854564C>A	ENSP00000358397:p.Ser143*					FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103*|FAM72B_ENST00000471903.2_3'UTR	p.S143*	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	1257	+	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	143					B2RPQ5|Q5QP15	Nonsense_Mutation	SNP	ENST00000369390.3	37	c.428C>A	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562402	0.86335	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	.	.	.	2.63	2.63	0.31362	.	0.210193	0.32836	U	0.005587	.	.	.	.	.	.	0.48696	D	0.999691	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8378	0.35123	0.0:1.0:0.0:0.0	.	.	.	.	X	114;143;114;103	.	ENSP00000347368:S103X	S	+	2	0	FAM72B	120656087	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.818000	0.55678	1.487000	0.48415	0.398000	0.26397	TCA		0.269	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			21	3	1	0	4.59853e-10	1	4.77539e-10	21	3					A	120854564	C	A	120854564	4	1	150	1	0	0	0	0	0	1	0	0	5615	838	29	5	442	5	FAM72B	1	120854564	Nonsense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	73452145	120854564	128396057	2	2660										
OBSCN	84033	broad.mit.edu	37	chr1	228540722	228540722	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	NA	0	1	1	0	gagccccatgctgcaggcccAggagcagtgtcacagggagc							TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:228540722delA	ENST00000422127.1	+	79	18664	c.18620delA	c.(18619-18621)cagfs	p.Q6207fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.Q7164fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Q3841fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.Q3326fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q6207fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6207					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCAGGCCCAGGAGCAGTGT	0.697																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21490-21492)cgfs		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15	20	19					1																	228540722		2102	4190	6292	SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228540722delA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18620delA	1.37:g.228540722delA	ENSP00000409493:p.Gln6207fs					OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Q3841fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.Q3326fs	p.Q7164fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			90	21565	+		Prostate(94;0.0405)	6207					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	c.21491delA	CCDS58065.1																																																																																				0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		2	4						2	4	---	---	---	---	-	228540722	A	-	228540722	7	5	150	1	0	1	0	1	0	0	0	0	10812	188	7	0	18930	0	OBSCN	1	228540722	Frame_Shift_Del	DEL	A	TCGA-WB-A80V-01A-12D-A35I-08	107686158	228540722	20709899	3	2661										
RNF149	284996	broad.mit.edu	37	chr2	101898392	101898392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gtggctcagattcagcagggGaggctgatggtggactgctg	18	7	2	2			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr2:101898392G>A	ENST00000295317.3	-	6	1195	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	363					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)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCAGGGGAGGCTGATGG	0.483																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1087-1089)tCc>tTc		ring finger protein 149							167	150	156					2																	101898392		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898392G>A	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.1088C>T	2.37:g.101898392G>A	ENSP00000295317:p.Ser363Phe						p.S363F	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			6	1195	-			363					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1088C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288027	0.80803	.	.	ENSG00000163162	ENST00000295317	T	0.10477	2.87	5.63	5.63	0.86233	.	0.086238	0.50627	D	0.000120	T	0.25865	0.0630	L	0.59436	1.845	0.41888	D	0.990353	D	0.54397	0.966	P	0.54401	0.751	T	0.00275	-1.1856	10	0.87932	D	0	.	19.2864	0.94072	0.0:0.0:1.0:0.0	.	363	Q8NC42	RN149_HUMAN	F	363	ENSP00000295317:S363F	ENSP00000295317:S363F	S	-	2	0	RNF149	101264824	1.000000	0.71417	0.115000	0.21578	0.026000	0.11368	6.054000	0.71096	2.644000	0.89710	0.563000	0.77884	TCC		0.483	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		41	52	0	0	0	1	0	41	52					A	101898392	G	A	101898392	3	1	150	1	0	0	0	0	1	0	0	0	13450	1174	41	3	122	3	RNF149	2	101898392	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		101898392	141300981	4	2662										
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924111	105924111	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcaggaactcctgtctcccTatcctcttgacgatcggcgg	10	14	2	1			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr2:105924111T>A	ENST00000393359.2	-	2	1074	c.648A>T	c.(646-648)atA>atT	p.I216I	TGFBRAP1_ENST00000258449.1_Silent_p.I216I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	216	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTGTCTCCCTATCCTCTTGA	0.587																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(646-648)atA>atT		transforming growth factor, beta receptor associated protein 1							98	112	107					2																	105924111		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924111T>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.648A>T	2.37:g.105924111T>A						TGFBRAP1_ENST00000258449.1_Silent_p.I216I	p.I216I			Q8WUH2	TGFA1_HUMAN			2	1074	-			216			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.648A>T	CCDS2067.1																																																																																				0.587	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		6	149	0	0	0	1	0	6	149					A	105924111	T	A	105924111	2	1	150	1	0	0	0	0	0	0	0	1	15821	1512	53	5		5	TGFBRAP1	2	105924111	Silent	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08	4025719	105924111	137275262	5	2663										
TRIM71	131405	broad.mit.edu	37	chr3	32932862	32932862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtctcagacacgaggaaccaCcggatccagctgtttgggcc	12	13	1	1			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr3:32932862C>T	ENST00000383763.5	+	4	2229	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	722					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAGGAACCACCGGATCCAGC	0.542																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2164-2166)caC>caT		tripartite motif containing 71, E3 ubiquitin protein ligase							45	51	49					3																	32932862		2023	4181	6204	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932862C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2166C>T	3.37:g.32932862C>T							p.H722H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2229	+			722						Silent	SNP	ENST00000383763.5	37	c.2166C>T	CCDS43060.1																																																																																				0.542	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		12	4	0	0	0	1	0	12	4					T	32932862	C	T	32932862	2	4	150	1	0	0	0	0	0	0	0	1	16541	506	18	3		3	TRIM71	3	32932862	Silent	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08		32932862	165089568	6	2664										
PLCH1	23007	broad.mit.edu	37	chr3	155200763	155200763	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagagcactggaggaggatgAtaactttttgttgaaattta	11	4	0	3			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr3:155200763A>T	ENST00000340059.7	-	23	3075	c.3076T>A	c.(3076-3078)Tca>Aca	p.S1026T	PLCH1_ENST00000460012.1_Missense_Mutation_p.S988T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1026	Poly-Ser.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGGAGGATGATAACTTTTTG	0.418																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2962-2964)Tca>Aca		phospholipase C, eta 1							152	155	154					3																	155200763		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200763A>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3076T>A	3.37:g.155200763A>T	ENSP00000345988:p.Ser1026Thr					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1026T|PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1_ENST00000494598.1_Intron	p.S988T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3319	-			1026					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2962T>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452335	0.26074	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.03	3.87	0.44632	.	1.547940	0.02757	N	0.118195	T	0.22742	0.0549	L	0.44542	1.39	0.09310	N	1	B;B	0.25772	0.112;0.134	B;B	0.17722	0.019;0.018	T	0.30707	-0.9969	10	0.30078	T	0.28	.	10.9108	0.47108	0.9254:0.0:0.0745:0.0	.	988;1026	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	988;1026;988;988	ENSP00000417502:S988T;ENSP00000345988:S1026T;ENSP00000335469:S988T;ENSP00000412977:S988T	ENSP00000335469:S988T	S	-	1	0	PLCH1	156683457	0.577000	0.26708	0.559000	0.28332	0.460000	0.32559	1.077000	0.30741	0.865000	0.35603	0.482000	0.46254	TCA		0.418	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		33	7	0	0	0	1	0	33	7					T	155200763	A	T	155200763	3	4	150	1	0	0	0	0	1	0	0	0	12037	333	12	5	2009	5	PLCH1	3	155200763	Missense_Mutation	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08	122267901	155200763	42821667	7	2665										
ANKRD17	26057	broad.mit.edu	37	chr4	74005476	74005476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aggcatcgccagaggctggaTtggcgcaaaacccatctgag	13	11	1	2			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr4:74005476T>C	ENST00000358602.4	-	15	2973	c.2857A>G	c.(2857-2859)Atc>Gtc	p.I953V	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	953	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGGCTGGATTGGCGCAAAA	0.532																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(2857-2859)Atc>Gtc		ankyrin repeat domain 17							71	69	70					4																	74005476		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005476T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2857A>G	4.37:g.74005476T>C	ENSP00000351416:p.Ile953Val					ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	p.I953V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2973	-	Breast(15;0.000295)		953			Gln-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.2857A>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	2.440	-0.328886	0.05314	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.65178	-0.14;-0.12	5.87	3.41	0.39046	Ankyrin repeat-containing domain (1);	0.078222	0.53938	D	0.000056	T	0.48077	0.1480	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.10296	0.002;0.0;0.003;0.001	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.30621	-0.9972	10	0.31617	T	0.26	.	10.3623	0.44001	0.0:0.1909:0.0:0.8091	.	474;953;953;840	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	953;953;840;953	ENSP00000351416:I953V;ENSP00000427151:I840V	ENSP00000351416:I953V	I	-	1	0	ANKRD17	74224340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.553000	0.29044	0.533000	0.62120	ATC		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		37	27	0	0	0	1	0	37	27					C	74005476	T	C	74005476	3	2	150	1	0	0	0	0	1	0	0	0	646	1493	52	4	5034	4	ANKRD17	4	74005476	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08		74005476	117148800	8	2666										
LPA	4018	broad.mit.edu	37	chr6	160999682	160999682	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acactgggatccatggtgtaAcaccaagggcgaatctcagc	11	11	1	0			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr6:160999682A>G	ENST00000316300.5	-	27	4388	c.4344T>C	c.(4342-4344)tgT>tgC	p.C1448C	LPA_ENST00000447678.1_Silent_p.C1448C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3956	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCATGGTGTAACACCAAGGGC	0.517																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4342-4344)tgT>tgC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						107	111	109					6																	160999682		2149	4275	6424	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999682A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4344T>C	6.37:g.160999682A>G						LPA_ENST00000316300.5_Silent_p.C1448C	p.C1448C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4464	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3956			Kringle 13.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4344T>C	CCDS43523.1																																																																																				0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	44	0	0	0	1	0	6	44					G	160999682	A	G	160999682	2	3	150	1	0	0	0	0	0	0	0	1	8903	41	2	4		4	LPA	6	160999682	Silent	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08		160999682	10115385	9	2667										
C10orf47	254427	broad.mit.edu	37	chr10	11911789	11911789	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	gtggaggacacctgccgcccGggggccccgcagtggagacc							TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:11911789delG	ENST00000277570.5	+	4	846	c.692delG	c.(691-693)cggfs	p.R231fs	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Frame_Shift_Del_p.R35fs|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	231	Pro-rich.																CCTGCCGCCCGGGGGCCCCGC	0.736																																						ENST00000277570.5																			0											c.(691-693)cgfs		proline and serine-rich protein 2				21,3521		5,11,1755	3	4	4			-10.1	0	10		4	44,7050		10,24,3513	no	frameshift	C10orf47	NM_153256.3		15,35,5268	A1A1,A1R,RR		0.6202,0.5929,0.6111			11911789	65,10571	1932	3859	5791	SO:0001589	frameshift_variant	254427							g.chr10:11911789delG	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.692delG	10.37:g.11911789delG	ENSP00000277570:p.Arg231fs					PROSER2_ENST00000379200.1_Frame_Shift_Del_p.R35fs|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	p.R231fs	NM_153256.3	NP_694988.3					4	846	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	ENST00000277570.5	37	c.692delG	CCDS7085.1																																																																																				0.736	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		2	4						2	4	---	---	---	---	-	11911789	G	-	11911789	7	5	150	1	0	1	0	1	0	0	0	0	1605	1116	39	0	702	0	C10orf47	10	11911789	Frame_Shift_Del	DEL	G	TCGA-WB-A80V-01A-12D-A35I-08		11911789	123622958	10	2668										
RET	5979	broad.mit.edu	37	chr10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcggattccagttaaatggaTggcaattgaatccctttttg	9	7	0	1	rs74799832		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	247	Substitution - Missense(247)	p.M918T(247)	thyroid(231)|adrenal_gland(16)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM941246	RET	M	rs74799832	c.(2752-2754)aTg>aCg		ret proto-oncogene	Sunitinib(DB01268)						262	244	250					10																	43617416		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617416T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2753T>C	10.37:g.43617416T>C	ENSP00000347942:p.Met918Thr					RET_ENST00000340058.5_Missense_Mutation_p.M918T	p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	2985	+		Ovarian(717;0.0423)	918		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2753T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427864	0.83667	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90504	-2.68;-2.68	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.52126	1.63	0.80722	A	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94557	0.7759	9	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	664;918;918	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	918	ENSP00000347942:M918T;ENSP00000344798:M918T	ENSP00000344798:M918T	M	+	2	0	RET	42937422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.198000	0.70561	0.533000	0.62120	ATG		0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		48	76	0	0	0	1	0	48	76					C	43617416	T	C	43617416	3	2	150	1	0	0	0	0	1	0	0	0	13235	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08	31705627	43617416	91917331	11	2669										
ZNF503	84858	broad.mit.edu	37	chr10	77158808	77158808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgacagcagtttgtctgtcCcgggaaatgccgtatgggtc	13	11	1	0			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:77158808C>T	ENST00000372524.4	-	2	2126	c.1640G>A	c.(1639-1641)gGg>gAg	p.G547E	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	547					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TTTGTCTGTCCCGGGAAATGC	0.662																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(1639-1641)gGg>gAg		zinc finger protein 503							25	22	23					10																	77158808		2202	4298	6500	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158808C>T	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1640G>A	10.37:g.77158808C>T	ENSP00000361602:p.Gly547Glu					ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E|RP11-399K21.11_ENST00000418818.2_lincRNA	p.G547E	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	2126	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		547					Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1640G>A	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242513	0.79912	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.48836	0.8;0.8	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.71036	2.16	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.72747	-0.4200	10	0.66056	D	0.02	-9.1857	17.6259	0.88093	0.0:1.0:0.0:0.0	.	547	Q96F45	ZN503_HUMAN	E	547;547;510	ENSP00000361602:G547E;ENSP00000438988:G547E	ENSP00000361594:G510E	G	-	2	0	ZNF503	76828814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.227000	0.78070	2.376000	0.81061	0.643000	0.83706	GGG		0.662	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		17	17	0	0	0	1	0	17	17					T	77158808	C	T	77158808	3	4	150	1	0	0	0	0	1	0	0	0	17948	623	22	3	304	3	ZNF503	10	77158808	Missense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	33541392	77158808	58375939	12	2670										
TM7SF3	51768	broad.mit.edu	37	chr12	27129269	27129269	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgacccagaatacaccatcaTcatgaaaaatctttaggttt	5	9	3	3			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:27129269T>C	ENST00000343028.4	-	10	1436	c.1211A>G	c.(1210-1212)gAt>gGt	p.D404G	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	404						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TACACCATCATCATGAAAAAT	0.363																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1210-1212)gAt>gGt		transmembrane 7 superfamily member 3							106	103	104					12																	27129269		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27129269T>C	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1211A>G	12.37:g.27129269T>C	ENSP00000342322:p.Asp404Gly					RP11-421F16.3_ENST00000500632.1_RNA	p.D404G	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			10	1436	-	Colorectal(261;0.0847)		404					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1211A>G	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982221	0.34942	.	.	ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000537406	T	0.31247	1.5	5.18	2.65	0.31530	.	0.266014	0.42821	D	0.000655	T	0.27169	0.0666	L	0.57536	1.79	0.32530	N	0.535032	B	0.31125	0.309	B	0.31946	0.138	T	0.30937	-0.9961	10	0.37606	T	0.19	-9.0661	7.8833	0.29635	0.1355:0.0:0.1412:0.7232	.	404	Q9NS93	TM7S3_HUMAN	G	404;118;22	ENSP00000342322:D404G	ENSP00000342322:D404G	D	-	2	0	TM7SF3	27020536	0.967000	0.33354	0.264000	0.24511	0.755000	0.42902	3.477000	0.53151	1.076000	0.40961	0.533000	0.62120	GAT		0.363	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	22	0	0	0	1	0	7	22					C	27129269	T	C	27129269	3	2	150	1	0	0	0	0	1	0	0	0	15972	1435	50	4	513	4	TM7SF3	12	27129269	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08		27129269	106722626	13	2671										
PDE1B	5153	broad.mit.edu	37	chr12	54963377	54963377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gggccccacttactctactgCggttctcaactgtctcaagg	9	14	3	0	rs571112837	byFrequency	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:54963377C>T	ENST00000243052.3	+	5	894	c.458C>T	c.(457-459)gCg>gTg	p.A153V	PDE1B_ENST00000538346.1_Missense_Mutation_p.A112V|PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	153					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TACTCTACTGCGGTTCTCAAC	0.488																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(457-459)gCg>gTg		phosphodiesterase 1B, calmodulin-dependent							140	115	124					12																	54963377		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963377C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.458C>T	12.37:g.54963377C>T	ENSP00000243052:p.Ala153Val					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A112V	p.A153V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			5	894	+			153					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.458C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941527	0.18281	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69685	-0.42;-0.4;-0.41	4.16	1.33	0.21861	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.201429	0.40302	N	0.001121	T	0.46718	0.1407	L	0.29908	0.895	0.36900	D	0.890337	B;B	0.20261	0.043;0.025	B;B	0.15870	0.014;0.006	T	0.29971	-0.9994	10	0.29301	T	0.29	.	5.5467	0.17067	0.1589:0.6614:0.0:0.1797	.	133;153	Q01064-2;Q01064	.;PDE1B_HUMAN	V	153;112;133	ENSP00000243052:A153V;ENSP00000442559:A112V;ENSP00000448519:A133V	ENSP00000243052:A153V	A	+	2	0	PDE1B	53249644	0.907000	0.30839	0.329000	0.25429	0.286000	0.27126	1.902000	0.39848	0.296000	0.22592	0.655000	0.94253	GCG		0.488	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			4	110	0	0	0	1	0	4	110					T	54963377	C	T	54963377	3	4	150	1	0	0	0	0	1	0	0	0	11634	768	27	1	529	1	PDE1B	12	54963377	Missense_Mutation	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	27834108	54963377	78888518	14	2672										
ARHGAP9	64333	broad.mit.edu	37	chr12	57868688	57868688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacagcagcaatgcagagccGcaaaaagctgggcaccgtgt	12	12	0	1			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:57868688G>A	ENST00000356411.2	-	13	1816	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R631W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	560	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGCAGAGCCGCAAAAAGCTG	0.547																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1891-1893)Cgg>Tgg		Rho GTPase activating protein 9							55	53	54					12																	57868688		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868688G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1678C>T	12.37:g.57868688G>A	ENSP00000348782:p.Arg560Trp					ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W	p.R631W			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2083	-			560			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1891C>T		.	.	.	.	.	.	.	.	.	.	G	18.53	3.644828	0.67358	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	5.2	3.31	0.37934	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126110	0.52532	D	0.000063	T	0.39436	0.1078	L	0.55834	1.745	0.44268	D	0.997121	D;D;D;D;P	0.89917	0.999;1.0;0.998;1.0;0.94	D;D;P;D;B	0.87578	0.916;0.998;0.809;0.997;0.362	T	0.13072	-1.0523	10	0.56958	D	0.05	.	12.3366	0.55071	0.0:0.0:0.6927:0.3072	.	620;560;541;541;357	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	541;560;211;541;631;590;357;48	ENSP00000377380:R541W;ENSP00000348782:R560W;ENSP00000394307:R541W;ENSP00000377386:R631W;ENSP00000397950:R357W;ENSP00000448423:R48W	ENSP00000344852:R590W	R	-	1	2	ARHGAP9	56154955	0.011000	0.17503	0.986000	0.45419	0.989000	0.77384	1.565000	0.36386	0.814000	0.34374	-0.175000	0.13238	CGG		0.547	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		3	44	0	0	0	1	0	3	44					A	57868688	G	A	57868688	3	1	150	1	0	0	0	0	1	0	0	0	889	1086	38	1	598	1	ARHGAP9	12	57868688	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08	2905311	57868688	75983207	15	2673										
SSH1	54434	broad.mit.edu	37	chr12	109192840	109192840	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcccgcgttggggcgcgtgaTgctgcgcttctgctttacat	14	12	1	1	rs144199955		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:109192840T>C	ENST00000326495.5	-	13	1378	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	SSH1_ENST00000551165.1_Missense_Mutation_p.I429V|SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	429	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCGCGTGATGCTGCGCTTC	0.562													T|||	1	0.000199681	8e-04	0	5008	,	,		19833	0		0	False		,,,				2504	0					ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1285-1287)Atc>Gtc		slingshot protein phosphatase 1							79	75	76					12																	109192840		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109192840T>C	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1285A>G	12.37:g.109192840T>C	ENSP00000315713:p.Ile429Val					SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V|SSH1_ENST00000551165.1_Missense_Mutation_p.I429V	p.I429V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			13	1378	-			429			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1285A>G	CCDS9121.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.41	1.930417	0.34096	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	D;T;T;T	0.85484	-1.99;1.34;1.34;1.34	5.11	2.75	0.32379	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.094281	0.64402	N	0.000001	D	0.85535	0.5719	L	0.41079	1.255	0.30328	N	0.786909	B;B;B;D	0.62365	0.034;0.053;0.106;0.991	B;B;B;D	0.72625	0.108;0.043;0.123;0.978	T	0.78653	-0.2120	10	0.19147	T	0.46	-24.8017	8.0298	0.30459	0.0:0.2245:0.0:0.7755	.	440;429;429;117	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	V	117;429;429;440	ENSP00000353374:I117V;ENSP00000315713:I429V;ENSP00000448824:I429V;ENSP00000326107:I440V	ENSP00000326107:I440V	I	-	1	0	SSH1	107716969	1.000000	0.71417	0.975000	0.42487	0.858000	0.48976	1.866000	0.39489	0.381000	0.24851	0.533000	0.62120	ATC		0.562	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		28	27	0	0	0	1	0	28	27					C	109192840	T	C	109192840	3	2	150	1	0	0	0	0	1	0	0	0	15183	1464	51	4	2062	4	SSH1	12	109192840	Missense_Mutation	SNP	T	TCGA-WB-A80V-01A-12D-A35I-08	51324152	109192840	24659055	16	2674										
ARL6IP4	23457	broad.mit.edu	37	chr12	123466570	123466570	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaccaaggaggagtgggatgCccggcagagcatcatccgca	15	11	1	1			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:123466570C>T	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.A171V|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.A302V|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GAGTGGGATGCCCGGCAGAGC	0.622																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5																			0											c.(904-906)gCc>gTc		ADP-ribosylation-like factor 6 interacting protein 4							65	62	63					12																	123466570		2203	4300	6503	SO:0001631	upstream_gene_variant	51329				RNA splicing	nucleus		g.chr12:123466570C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466570C>T	Exception_encountered					RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.A171V|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V	p.A302V			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	4	1233	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		302					B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.905C>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600602	0.96614	.	.	ENSG00000182196	ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000439686;ENST00000456762	T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.999;0.999;0.999;0.999	P;D;D;D;D	0.70935	0.85;0.951;0.971;0.971;0.951	T	0.76421	-0.2965	10	0.72032	D	0.01	.	18.9825	0.92760	0.0:1.0:0.0:0.0	.	168;283;283;302;294	B3V0L1;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;AR6P4_HUMAN;.	V	283;302;291;283;171;160;294;168;171;161	ENSP00000442718:A283V;ENSP00000313422:A302V;ENSP00000442200:A291V;ENSP00000376230:A283V;ENSP00000441406:A171V;ENSP00000406036:A160V;ENSP00000414847:A294V;ENSP00000396723:A168V;ENSP00000396365:A171V;ENSP00000391598:A161V	ENSP00000313422:A302V	A	+	2	0	ARL6IP4	122032523	1.000000	0.71417	0.757000	0.31301	0.772000	0.43724	5.713000	0.68415	2.475000	0.83589	0.561000	0.74099	GCC		0.622	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		3	29	0	0	0	1	0	3	29					T	123466570	C	T	123466570	1	4	150	0	1	0	0	0	0	0	0	0	943	739	26	3		3	ARL6IP4	12	123466570	5'Flank	SNP	C	TCGA-WB-A80V-01A-12D-A35I-08	14273730	123466570	10385325	17	2675										
CENPJ	55835	broad.mit.edu	37	chr13	25466996	25466996	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccgtaaatctgctatttgctGttttaaagtctctcaaaaaa	5	8	3	0	rs200583239		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr13:25466996G>T	ENST00000381884.4	-	10	3186	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1001					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATTTGCTGTTTTAAAGTC	0.333																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3001-3003)Cag>Aag		centromere protein J							105	101	103					13																	25466996		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466996G>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3001C>A	13.37:g.25466996G>T	ENSP00000371308:p.Gln1001Lys					CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3186	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1001					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3001C>A	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.946412|2.946412	0.53079|0.53079	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.37235|.	1.21;1.75|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.176589|.	0.51477|.	D|.	0.000086|.	T|T	0.68229|0.68229	0.2978|0.2978	L|L	0.45581|0.45581	1.43|1.43	0.52501|0.52501	D|D	0.999954|0.999954	B;B|.	0.13594|.	0.008;0.001|.	B;B|.	0.15484|.	0.013;0.002|.	T|T	0.64385|0.64385	-0.6420|-0.6420	10|5	0.19590|.	T|.	0.45|.	.|.	17.9193|17.9193	0.88961|0.88961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	82;1001|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	K|K	1001|82	ENSP00000371308:Q1001K;ENSP00000441090:Q1001K|.	ENSP00000371308:Q1001K|.	Q|T	-|-	1|2	0|0	CENPJ|CENPJ	24364996|24364996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.874000|5.874000	0.69652|0.69652	2.606000|2.606000	0.88127|0.88127	0.555000|0.555000	0.69702|0.69702	CAG|ACA		0.333	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	56	1	0	7.48243e-07	1	7.48243e-07	7	56					T	25466996	G	T	25466996	3	4	150	1	0	0	0	0	1	0	0	0	3234	1386	48	5	1047	5	CENPJ	13	25466996	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		25466996	89702882	18	2676										
ADSSL1	122622	broad.mit.edu	37	chr14	105190771	105190771	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	ggtggtggacctgctggccaCggacgccgacatcatcagcc							TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr14:105190771delC	ENST00000330877.2	+	1	249	c.164delC	c.(163-165)acgfs	p.T55fs		NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CTGCTGGCCACGGACGCCGAC	0.766																																						ENST00000330877.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(163-165)agfs		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						7	8	8					14																	105190771		2063	4117	6180	SO:0001589	frameshift_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105190771delC	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.164delC	14.37:g.105190771delC	ENSP00000331260:p.Thr55fs						p.T55fs	NM_152328.3	NP_689541.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	1	249	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	55						Frame_Shift_Del	DEL	ENST00000330877.2	37	c.164delC	CCDS9990.1																																																																																				0.766	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			2	4						2	4	---	---	---	---	-	105190771	C	-	105190771	7	5	150	1	0	1	0	1	0	0	0	0	348	536	19	0	166	0	ADSSL1	14	105190771	Frame_Shift_Del	DEL	C	TCGA-WB-A80V-01A-12D-A35I-08		105190771	2158769	19	2677										
ALDH1A3	220	broad.mit.edu	37	chr15	101440899	101440899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgagtttgtcaggcggagcGtggagtatgccaagaaacgg	16	7	1	2			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr15:101440899G>A	ENST00000329841.5	+	9	1535	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	335					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAGGCGGAGCGTGGAGTATGC	0.572																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1003-1005)Gtg>Atg		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						71	65	67					15																	101440899		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101440899G>A	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1003G>A	15.37:g.101440899G>A	ENSP00000332256:p.Val335Met					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M	p.V335M	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		9	1535	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		335					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.1003G>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372533	0.82573	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.18174	2.23	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.123571	0.56097	D	0.000037	T	0.46521	0.1397	M	0.86651	2.83	0.50039	D	0.999844	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.917	T	0.50294	-0.8845	10	0.66056	D	0.02	.	13.0882	0.59153	0.0731:0.0:0.9269:0.0	.	239;335	Q7Z3A2;P47895	.;AL1A3_HUMAN	M	335;239	ENSP00000332256:V335M	ENSP00000332256:V335M	V	+	1	0	ALDH1A3	99258422	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.504000	0.60414	2.671000	0.90904	0.655000	0.94253	GTG		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			9	22	0	0	0	1	0	9	22					A	101440899	G	A	101440899	3	1	150	1	0	0	0	0	1	0	0	0	492	1145	40	1	1037	1	ALDH1A3	15	101440899	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		101440899	1090493	20	2678										
ADAT1	23536	broad.mit.edu	37	chr16	75646709	75646709	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccaatttctgaagacaggacAgcaaggctgatcttcaaact	8	10	3	3			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr16:75646709A>T	ENST00000307921.3	-	7	620	c.475T>A	c.(475-477)Tgt>Agt	p.C159S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	159	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AAGACAGGACAGCAAGGCTGA	0.478																																						ENST00000307921.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(475-477)Tgt>Agt		adenosine deaminase, tRNA-specific 1							71	75	73					16																	75646709		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75646709A>T	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.475T>A	16.37:g.75646709A>T	ENSP00000310015:p.Cys159Ser						p.C159S	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN			7	620	-			159			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.475T>A	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	A	7.776	0.708464	0.15239	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.12774	2.65	5.75	0.855	0.19013	Adenosine deaminase/editase (3);	1.165670	0.05774	N	0.607418	T	0.08044	0.0201	N	0.26130	0.795	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.40440	-0.9563	10	0.12766	T	0.61	3.0171	1.4225	0.02315	0.4112:0.1448:0.3044:0.1396	.	159	Q9BUB4	ADAT1_HUMAN	S	159;130	ENSP00000310015:C159S	ENSP00000310015:C159S	C	-	1	0	ADAT1	74204210	0.016000	0.18221	0.923000	0.36655	0.795000	0.44927	0.979000	0.29500	0.456000	0.26937	0.533000	0.62120	TGT		0.478	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		29	38	0	0	0	1	0	29	38					T	75646709	A	T	75646709	3	4	150	1	0	0	0	0	1	0	0	0	284	188	7	5	1053	5	ADAT1	16	75646709	Missense_Mutation	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08		75646709	14708044	21	2679										
TTLL6	284076	broad.mit.edu	37	chr17	46847140	46847140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tgtagtgagctgggaagaagGagagcttcccactcagttga	14	7	1	4			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr17:46847140G>A	ENST00000393382.3	-	14	2501	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F	TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGGAAGAAGGAGAGCTTCCC	0.507																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2359-2361)tCc>tTc		tubulin tyrosine ligase-like family, member 6							130	116	121					17																	46847140		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847140G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2360C>T	17.37:g.46847140G>A	ENSP00000377043:p.Ser787Phe					TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F	p.S787F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			14	2501	-			739						Missense_Mutation	SNP	ENST00000393382.3	37	c.2360C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762597	0.49574	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.62	0.455	0.16649	.	.	.	.	.	T	0.38480	0.1042	L	0.51422	1.61	0.09310	N	1	B;B	0.14805	0.005;0.011	B;B	0.15052	0.005;0.012	T	0.37126	-0.9719	8	0.59425	D	0.04	.	6.3322	0.21276	0.4125:0.0:0.5875:0.0	.	739;480	Q8N841;G5E937	TTLL6_HUMAN;.	F	787;480;465;739	.	ENSP00000302547:S480F	S	-	2	0	TTLL6	44202139	0.179000	0.23135	0.001000	0.08648	0.178000	0.23041	1.160000	0.31761	0.289000	0.22422	0.655000	0.94253	TCC		0.507	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		25	35	0	0	0	1	0	25	35					A	46847140	G	A	46847140	3	1	150	1	0	0	0	0	1	0	0	0	16728	1174	41	3	323	3	TTLL6	17	46847140	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		46847140	34348070	22	2680										
SEH1L	81929	broad.mit.edu	37	chr18	12971218	12971218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agccccaacgcaatggccaaGgttcagatttttgaatataa	8	9	1	2			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr18:12971218G>T	ENST00000262124.11	+	5	715	c.588G>T	c.(586-588)aaG>aaT	p.K196N	SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	196					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CAATGGCCAAGGTTCAGATTT	0.373																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(586-588)aaG>aaT		SEH1-like (S. cerevisiae)							112	108	110					18																	12971218		2203	4300	6503	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12971218G>T	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.588G>T	18.37:g.12971218G>T	ENSP00000262124:p.Lys196Asn					SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N	p.K196N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			5	715	+			196					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.588G>T	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603786	0.66445	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.66099	-0.19;-0.19	5.76	2.65	0.31530	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.83384	2.64	0.58432	D	0.999998	D;D	0.71674	0.992;0.998	D;D	0.69654	0.957;0.965	T	0.71388	-0.4608	10	0.27785	T	0.31	-18.0785	9.5227	0.39145	0.4642:0.0:0.5358:0.0	.	196;196	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	N	196	ENSP00000382779:K196N;ENSP00000262124:K196N	ENSP00000262124:K196N	K	+	3	2	SEH1L	12961218	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.976000	0.29462	0.222000	0.20900	0.563000	0.77884	AAG		0.373	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		22	32	1	0	9.57634e-11	1	1.03424e-10	22	32					T	12971218	G	T	12971218	3	4	150	1	0	0	0	0	1	0	0	0	14009	991	35	5	606	5	SEH1L	18	12971218	Missense_Mutation	SNP	G	TCGA-WB-A80V-01A-12D-A35I-08		12971218	65106030	23	2681										
SIGLEC11	114132	broad.mit.edu	37	chr19	50461638	50461638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgagccctccatggaggctcAgggagctgttggcccagggc	16	12	1	1			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr19:50461638A>G	ENST00000447370.2	-	8	1643	c.1553T>C	c.(1552-1554)cTg>cCg	p.L518P	CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.L4P|SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	518					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ATGGAGGCTCAGGGAGCTGTT	0.677																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1552-1554)cTg>cCg		sialic acid binding Ig-like lectin 11							26	30	28					19																	50461638		2202	4297	6499	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461638A>G	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1553T>C	19.37:g.50461638A>G	ENSP00000412361:p.Leu518Pro					CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.L4P|SIGLEC11_ENST00000426971.2_Intron	p.L518P	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	8	1643	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	518						Missense_Mutation	SNP	ENST00000447370.2	37	c.1553T>C	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167107	0.57476	.	.	ENSG00000161640	ENST00000447370	D	0.91577	-2.87	2.86	2.86	0.33363	.	0.000000	0.42294	D	0.000721	D	0.94827	0.8329	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94017	0.7289	9	.	.	.	.	7.8527	0.29464	1.0:0.0:0.0:0.0	.	518	Q96RL6	SIG11_HUMAN	P	518	ENSP00000412361:L518P	.	L	-	2	0	SIGLEC11	55153450	0.994000	0.37717	1.000000	0.80357	0.965000	0.64279	1.353000	0.34045	1.267000	0.44247	0.454000	0.30748	CTG		0.677	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		3	28	0	0	0	1	0	3	28					G	50461638	A	G	50461638	3	3	150	1	0	0	0	0	1	0	0	0	14307	188	7	4	559	4	SIGLEC11	19	50461638	Missense_Mutation	SNP	A	TCGA-WB-A80V-01A-12D-A35I-08		50461638	8667345	24	2682										
TNR	7143	broad.mit.edu	37	chr1	175375785	175375785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaaggcttgatcatggagccCagaaggatcaggttgatgcc	14	8	2	3			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:175375785C>T	ENST00000367674.2	-	3	774	c.66G>A	c.(64-66)ctG>ctA	p.L22L	TNR_ENST00000263525.2_Silent_p.L22L			Q92752	TENR_HUMAN	tenascin R	22					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCATGGAGCCCAGAAGGATCA	0.542																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(64-66)ctG>ctA		tenascin R							182	161	168					1																	175375785		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375785C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.66G>A	1.37:g.175375785C>T						TNR_ENST00000263525.2_Silent_p.L22L	p.L22L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	774	-	Renal(580;0.146)		22					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.66G>A	CCDS1318.1																																																																																				0.542	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		4	137	0	0	0	1	0	4	137					T	175375785	C	T	175375785	2	4	151	1	0	0	0	0	0	0	0	1	16335	581	21	3		3	TNR	1	175375785	Silent	SNP	C	TCGA-WB-A80Y-01A-11D-A35I-08		175375785	73874836	1	2683										
DSTYK	25778	broad.mit.edu	37	chr1	205138795	205138795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tttgaaaaagaatacaggaaAggagaaatactttcggattt	9	3	0	3			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr1:205138795A>G	ENST00000367162.3	-	3	850	c.820T>C	c.(820-822)Ttt>Ctt	p.F274L	DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L|DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	274					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AATACAGGAAAGGAGAAATAC	0.453																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(820-822)Ttt>Ctt		dual serine/threonine and tyrosine protein kinase							75	74	74					1																	205138795		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138795A>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.820T>C	1.37:g.205138795A>G	ENSP00000356130:p.Phe274Leu					DSTYK_ENST00000367160.4_Missense_Mutation_p.F274L|DSTYK_ENST00000367161.3_Missense_Mutation_p.F274L	p.F274L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			3	850	-			274					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.820T>C	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	A	8.816	0.936332	0.18206	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.75477	-0.54;-0.87;-0.94	5.36	2.86	0.33363	.	0.254818	0.40554	N	0.001079	T	0.40372	0.1114	N	0.03071	-0.42	0.31330	N	0.684977	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.39418	-0.9615	10	0.07482	T	0.82	-5.6068	3.9388	0.09318	0.5989:0.1923:0.2087:0.0	.	274;274	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	L	274	ENSP00000356128:F274L;ENSP00000356129:F274L;ENSP00000356130:F274L	ENSP00000356128:F274L	F	-	1	0	DSTYK	203405418	0.962000	0.33011	0.994000	0.49952	0.993000	0.82548	1.224000	0.32539	2.022000	0.59522	0.459000	0.35465	TTT		0.453	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		21	38	0	0	0	1	0	21	38					G	205138795	A	G	205138795	3	3	151	1	0	0	0	0	1	0	0	0	4785	72	3	4	2013	4	DSTYK	1	205138795	Missense_Mutation	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08	29763010	205138795	44111826	2	2684										
CCDC39	339829	broad.mit.edu	37	chr3	180365982	180365982	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cataatttcttgctgcttcaAggtttcaaaatccagttttt	5	8	3	0			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr3:180365982A>G	ENST00000442201.2	-	10	1452	c.1333T>C	c.(1333-1335)Ttg>Ctg	p.L445L	CCDC39_ENST00000273654.4_Silent_p.L529L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	445					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGCTGCTTCAAGGTTTCAAAA	0.343																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1585-1587)Ttg>Ctg		coiled-coil domain containing 39							89	86	87					3																	180365982		1842	4084	5926	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180365982A>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1333T>C	3.37:g.180365982A>G						CCDC39_ENST00000442201.2_Silent_p.L445L	p.L529L			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		16	2204	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		445					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1585T>C	CCDS46964.1																																																																																				0.343	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		7	15	0	0	0	1	0	7	15					G	180365982	A	G	180365982	2	3	151	1	0	0	0	0	0	0	0	1	2811	69	3	4		4	CCDC39	3	180365982	Silent	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08		180365982	17656448	3	2685										
PSD3	23362	broad.mit.edu	37	chr8	18490305	18490305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgagggagacttttttttcTcttcatcatctctaaaaggg	8	8	4	2	rs371167268		TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr8:18490305T>C	ENST00000327040.8	-	11	2330	c.2228A>G	c.(2227-2229)gAg>gGg	p.E743G	PSD3_ENST00000428502.2_Missense_Mutation_p.E72G|PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G|PSD3_ENST00000440756.2_Missense_Mutation_p.E745G	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	744					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTTTTTTTCTCTTCATCATC	0.358																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2233-2235)gAg>gGg		pleckstrin and Sec7 domain containing 3							123	100	108					8																	18490305		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18490305T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2228A>G	8.37:g.18490305T>C	ENSP00000324127:p.Glu743Gly					PSD3_ENST00000286485.8_Missense_Mutation_p.E209G|PSD3_ENST00000428502.2_Missense_Mutation_p.E72G|PSD3_ENST00000327040.8_Missense_Mutation_p.E743G|PSD3_ENST00000523619.1_Missense_Mutation_p.E678G	p.E745G			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	11	2336	-			744					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2234A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802837	0.50315	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.20463	2.69;2.7;2.07;2.69	5.93	5.93	0.95920	SEC7-like, alpha orthogonal bundle (1);	0.116282	0.31589	U	0.007390	T	0.31231	0.0790	M	0.67397	2.05	0.42010	D	0.99093	B;B;B;P	0.38420	0.102;0.102;0.002;0.63	B;B;B;P	0.45660	0.082;0.082;0.007;0.489	T	0.07385	-1.0775	10	0.51188	T	0.08	.	10.3985	0.44216	0.0:0.0:0.164:0.836	.	743;744;209;72	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	G	743;745;72;209;72;678	ENSP00000324127:E743G;ENSP00000401704:E745G;ENSP00000286485:E209G;ENSP00000430640:E678G	ENSP00000286485:E209G	E	-	2	0	PSD3	18534585	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.605000	0.61119	2.265000	0.75225	0.533000	0.62120	GAG		0.358	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		19	21	0	0	0	1	0	19	21					C	18490305	T	C	18490305	3	2	151	1	0	0	0	0	1	0	0	0	12648	1551	54	4	939	4	PSD3	8	18490305	Missense_Mutation	SNP	T	TCGA-WB-A80Y-01A-11D-A35I-08		18490305	127873717	4	2686										
CHMP7	91782	broad.mit.edu	37	chr8	23104385	23104385	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	atgggcttctgggcgccgttGgtgctgagccacagccgccg							TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr8:23104385delG	ENST00000397677.1	+	2	825	c.177delG	c.(175-177)ttgfs	p.L59fs	CHMP7_ENST00000313219.7_Frame_Shift_Del_p.L59fs	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	59					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGGCGCCGTTGGTGCTGAGCC	0.667											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(175-177)ttfs		charged multivesicular body protein 7							9	9	9					8																	23104385		2190	4283	6473	SO:0001589	frameshift_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23104385delG	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.177delG	8.37:g.23104385delG	ENSP00000380794:p.Leu59fs		OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	761	CHMP7_ENST00000313219.7_Frame_Shift_Del_p.L59fs	p.L59fs	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	2	825	+		Prostate(55;0.0513)	59					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Frame_Shift_Del	DEL	ENST00000397677.1	37	c.177delG	CCDS6040.1																																																																																				0.667	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		2	4						2	4	---	---	---	---	-	23104385	G	-	23104385	7	5	151	1	0	1	0	1	0	0	0	0	3361	1339	47	0	179	0	CHMP7	8	23104385	Frame_Shift_Del	DEL	G	TCGA-WB-A80Y-01A-11D-A35I-08	4614080	23104385	123259637	5	2687										
OR52I1	390037	broad.mit.edu	37	chr11	4615722	4615722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgggaatgagtatggccGtcaccatcagagctgtcaca	12	10	3	2			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr11:4615722G>A	ENST00000530443.2	+	1	454	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	OR52I1_ENST00000450052.2_Missense_Mutation_p.V176I	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTATGGCCGTCACCATCAG	0.488																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(526-528)Gtc>Atc		olfactory receptor, family 52, subfamily I, member 1							127	113	118					11																	4615722		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615722G>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"GPCR / Class A : Olfactory receptors"	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.454G>A	11.37:g.4615722G>A	ENSP00000436453:p.Val152Ile					OR52I1_ENST00000530443.2_Missense_Mutation_p.V152I	p.V176I			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	526	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	152					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.526G>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.920623	0.00055	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.73152	-0.72;-0.72	4.96	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	N	0.000347	T	0.34513	0.0900	N	0.00966	-1.09	0.09310	N	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	9	0.07990	T	0.79	-11.8707	8.0907	0.30799	0.8305:0.0:0.1695:0.0	.	152	Q8NGK6	O52I1_HUMAN	I	176;152	ENSP00000409094:V176I;ENSP00000436453:V152I	ENSP00000409094:V176I	V	+	1	0	OR52I1	4572298	0.000000	0.05858	0.029000	0.17559	0.000000	0.00434	-0.745000	0.04834	0.464000	0.27142	-1.263000	0.01449	GTC		0.488	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		3	47	0	0	0	1	0	3	47					A	4615722	G	A	4615722	3	1	151	1	0	0	0	0	1	0	0	0	11120	1145	40	1	456	1	OR52I1	11	4615722	Missense_Mutation	SNP	G	TCGA-WB-A80Y-01A-11D-A35I-08		4615722	130390794	6	2688										
DYNC2H1	79659	broad.mit.edu	37	chr11	103027262	103027262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctgattaaagactggaaagAtatagtaaatcaggttggag	12	3	1	3			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr11:103027262A>G	ENST00000375735.2	+	26	4034	c.3890A>G	c.(3889-3891)gAt>gGt	p.D1297G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1297	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACTGGAAAGATATAGTAAAT	0.343																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(3889-3891)gAt>gGt		dynein, cytoplasmic 2, heavy chain 1							96	95	95					11																	103027262		1833	4086	5919	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027262A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3890A>G	11.37:g.103027262A>G	ENSP00000364887:p.Asp1297Gly					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1297G|DYNC2H1_ENST00000334267.7_Intron	p.D1297G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4034	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1297			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.3890A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153915	0.78114	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62941	-0.01;-0.01	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.086607	0.44483	D	0.000441	D	0.82811	0.5118	M	0.90922	3.16	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.72625	0.978;0.976	D	0.87143	0.2204	10	0.87932	D	0	.	15.1907	0.73041	1.0:0.0:0.0:0.0	.	1297;1297	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	G	1297	ENSP00000364887:D1297G;ENSP00000381167:D1297G	ENSP00000364887:D1297G	D	+	2	0	DYNC2H1	102532472	1.000000	0.71417	0.974000	0.42286	0.961000	0.63080	8.730000	0.91510	2.001000	0.58596	0.460000	0.39030	GAT		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		24	22	0	0	0	1	0	24	22					G	103027262	A	G	103027262	3	3	151	1	0	0	0	0	1	0	0	0	4846	333	12	4	3992	4	DYNC2H1	11	103027262	Missense_Mutation	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08	98411540	103027262	31979254	7	2689										
MIDN	90007	broad.mit.edu	37	chr19	1254406	1254407	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	NA	0	1	1	0	cccggtgcccaccagcccgtINScccctgcatctccctcgccc							TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:1254406_1254407insC	ENST00000591446.2	+	4	1034_1035	c.625_626insC	c.(625-627)tccfs	p.S209fs	MIDN_ENST00000300952.2_Frame_Shift_Ins_p.S209fs			Q504T8	MIDN_HUMAN	midnolin	209						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCCCGTCCCCTGCATCT	0.738																																						ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(625-627)cccfs		midnolin																																				SO:0001589	frameshift_variant	90007					nucleolus		g.chr19:1254406_1254407insC	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.629dupC	19.37:g.1254410_1254410dupC	ENSP00000467679:p.Ser209fs					MIDN_ENST00000591446.2_Frame_Shift_Ins_p.P209fs	p.P209fs	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1140_1141	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	209					Q96BW8	Frame_Shift_Ins	INS	ENST00000591446.2	37	c.625_626insC	CCDS32864.1																																																																																				0.738	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			2	4						2	4	---	---	---	---	C	1254407	-	C	1254406	7	5	151	1	0	1	1	0	0	0	0	0	9579	1667	58	0	639	0	MIDN	19	1254406	Frame_Shift_Ins	INS	-	TCGA-WB-A80Y-01A-11D-A35I-08		1254406	57874577	8	2690										
LIG1	3978	broad.mit.edu	37	chr19	48647153	48647153	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acctcacttctggcccggttTccagcaggcatcttccacgg	9	16	3	0			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:48647153T>C	ENST00000263274.7	-	10	1263	c.844A>G	c.(844-846)Aaa>Gaa	p.K282E	LIG1_ENST00000536218.1_Missense_Mutation_p.K214E|LIG1_ENST00000427526.2_Missense_Mutation_p.K251E|CTC-453G23.4_ENST00000594589.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	282					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGCCCGGTTTCCAGCAGGCA	0.532								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(844-846)Aaa>Gaa	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						133	138	136					19																	48647153		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48647153T>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.844A>G	19.37:g.48647153T>C	ENSP00000263274:p.Lys282Glu					LIG1_ENST00000536218.1_Missense_Mutation_p.K214E|LIG1_ENST00000427526.2_Missense_Mutation_p.K251E	p.K282E	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	10	1263	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	282					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.844A>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.459998	0.43736	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.88	3.77	0.43336	DNA ligase, ATP-dependent, N-terminal (2);	0.638567	0.15925	N	0.237928	T	0.18551	0.0445	L	0.56769	1.78	0.39974	D	0.974821	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.15484	0.006;0.013;0.006	T	0.09422	-1.0675	10	0.29301	T	0.29	-9.0773	5.232	0.15426	0.1758:0.0:0.1829:0.6413	.	251;214;282	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	E	282;313;251;214;250	ENSP00000263274:K282E;ENSP00000442841:K251E;ENSP00000441531:K214E;ENSP00000445928:K250E	ENSP00000263274:K282E	K	-	1	0	LIG1	53338965	0.273000	0.24181	0.968000	0.41197	0.982000	0.71751	0.378000	0.20569	2.125000	0.65367	0.533000	0.62120	AAA		0.532	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		26	44	0	0	0	1	0	26	44					C	48647153	T	C	48647153	3	2	151	1	0	0	0	0	1	0	0	0	8781	1792	62	4	1991	4	LIG1	19	48647153	Missense_Mutation	SNP	T	TCGA-WB-A80Y-01A-11D-A35I-08	47392747	48647153	10481830	9	2691										
CPT1C	126129	broad.mit.edu	37	chr19	50208514	50208514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cttatgctctgcccagtacgAgaagatcttcaacaccacgc	7	14	3	2			TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chr19:50208514A>G	ENST00000392518.4	+	10	1295	c.923A>G	c.(922-924)gAg>gGg	p.E308G	CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G|CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	308					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCCCAGTACGAGAAGATCTTC	0.562																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(922-924)gAg>gGg		carnitine palmitoyltransferase 1C							162	147	152					19																	50208514		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208514A>G	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.923A>G	19.37:g.50208514A>G	ENSP00000376303:p.Glu308Gly					CPT1C_ENST00000405931.2_Missense_Mutation_p.E297G|CPT1C_ENST00000323446.5_Missense_Mutation_p.E308G|CPT1C_ENST00000598293.1_Missense_Mutation_p.E308G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E308G	p.E308G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1295	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	308					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.923A>G	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177452	0.78564	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.34	3.25	0.37280	.	0.259343	0.27563	N	0.018818	D	0.90587	0.7049	L	0.49126	1.545	0.42783	D	0.99387	P;D;P;P	0.76494	0.942;0.999;0.95;0.78	P;D;P;P	0.66351	0.824;0.943;0.662;0.864	D	0.90523	0.4490	10	0.87932	D	0	-31.7339	8.7521	0.34622	0.8922:0.0:0.1078:0.0	.	179;308;297;308	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	G	308;308;297;308;179	ENSP00000376303:E308G;ENSP00000346138:E308G;ENSP00000384465:E297G;ENSP00000319343:E308G	ENSP00000295404:E179G	E	+	2	0	CPT1C	54900326	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.175000	0.65021	1.833000	0.53350	0.459000	0.35465	GAG		0.562	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		36	60	0	0	0	1	0	36	60					G	50208514	A	G	50208514	3	3	151	1	0	0	0	0	1	0	0	0	3833	304	11	4	953	4	CPT1C	19	50208514	Missense_Mutation	SNP	A	TCGA-WB-A80Y-01A-11D-A35I-08	1561361	50208514	8920469	10	2692										
OPN1MW	728458	broad.mit.edu	37	chrX	153496178	153496178	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	ggctaccccttccaccctttGatggctgccctgccggcctt							TCGA-WB-A80Y-01A-11D-A35I-08	TCGA-WB-A80Y-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7962f52f-3c00-4ae6-81fa-eb3dc9bacbf1	36e38cc8-de46-486b-8069-c0b596a0de22	g.chrX:153496178delG	ENST00000369929.4	+	5	966	c.906delG	c.(904-906)ttgfs	p.L302fs		NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	302					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCACCCTTTGATGGCTGCCC	0.547																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(904-906)ttfs		opsin 1 (cone pigments), medium-wave-sensitive 2							124	91	103					X																	153496178		2098	3779	5877	SO:0001589	frameshift_variant	728458							g.chrX:153496178delG		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"GPCR / Class A : Opsin receptors"	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.906delG	X.37:g.153496178delG	ENSP00000358945:p.Leu302fs						p.L302fs	NM_001048181.2	NP_001041646.1					5	966	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)								Frame_Shift_Del	DEL	ENST00000369929.4	37	c.906delG	CCDS35447.1																																																																																				0.547	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		71	82						71	82	---	---	---	---	-	153496178	G	-	153496178	7	5	151	1	0	1	0	1	0	0	0	0	10878	1281	45	0	2043	0	OPN1MW	23	153496178	Frame_Shift_Del	DEL	G	TCGA-WB-A80Y-01A-11D-A35I-08		153496178	1774382	11	2693										
KIAA0090	23065	broad.mit.edu	37	chr1	19559123	19559123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	agctggatgcctcaccttgtCcttcaccagcagggtgcact	10	14	2	0			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr1:19559123C>T	ENST00000477853.1	-	15	1819	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.D571N|EMC1_ENST00000375199.3_Missense_Mutation_p.D592N	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	593						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTCACCTTGTCCTTCACCAGC	0.488																																						ENST00000477853.1																			0											c.(1777-1779)Gac>Aac		ER membrane protein complex subunit 1							161	160	160					1																	19559123		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19559123C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1777G>A	1.37:g.19559123C>T	ENSP00000420608:p.Asp593Asn					RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.D592N|EMC1_ENST00000375208.3_Missense_Mutation_p.D571N	p.D593N	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					15	1819	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.1777G>A	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.021290|4.021290	0.75275|0.75275	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.23348|.	1.91;1.91;1.91|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67306|0.67306	0.2879|0.2879	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	P;B;D;D|.	0.63880|.	0.589;0.383;0.993;0.988|.	B;B;D;P|.	0.63033|.	0.236;0.155;0.91;0.815|.	T|T	0.60546|0.60546	-0.7242|-0.7242	10|5	0.37606|.	T|.	0.19|.	.|.	19.1391|19.1391	0.93441|0.93441	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	571;592;592;593|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	N|E	593;592;571|326	ENSP00000420608:D593N;ENSP00000364345:D592N;ENSP00000364354:D571N|.	ENSP00000364345:D592N|.	D|G	-|-	1|2	0|0	KIAA0090|KIAA0090	19431710|19431710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.280000|7.280000	0.78610|0.78610	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.488	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		30	71	0	0	0	1	0	30	71					T	19559123	C	T	19559123	3	4	152	1	0	0	0	0	1	0	0	0	8153	855	30	3	1240	3	KIAA0090	1	19559123	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08		19559123	229691498	1	2694										
TGFBR3	7049	broad.mit.edu	37	chr1	92174280	92174280	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtgaacgtcttcttattctGcatcatggcccagattatcg	8	10	4	2			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr1:92174280G>A	ENST00000525962.1	-	13	2288	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.Q743*			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	743	Interaction with TGF-beta ligand. {ECO:0000250}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTCTTATTCTGCATCATGGCC	0.547																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2227-2229)Cag>Tag		transforming growth factor, beta receptor III							116	95	102					1																	92174280		2203	4300	6503	SO:0001587	stop_gained	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92174280G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2227C>T	1.37:g.92174280G>A	ENSP00000436127:p.Gln743*					TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.Q742*|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.Q743*	p.Q743*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	14	2692	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	743					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	c.2227C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	40	8.483481	0.98832	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	5.68	5.68	0.88126	.	0.167779	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-14.6293	19.3902	0.94578	0.0:0.0:1.0:0.0	.	.	.	.	X	743;742;743;742	.	ENSP00000212355:Q743X	Q	-	1	0	TGFBR3	91946868	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.347000	0.65998	2.698000	0.92095	0.561000	0.74099	CAG		0.547	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		9	38	0	0	0	1	0	9	38					A	92174280	G	A	92174280	4	1	152	1	0	0	0	0	0	1	0	0	15820	1328	46	3	344	3	TGFBR3	1	92174280	Nonsense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08	72615157	92174280	157076341	2	2695										
EPAS1	2034	broad.mit.edu	37	chr2	46607400	46607400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctggacttggagacactggCaccctatatccccatggacg	11	13	0	1			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:46607400C>T	ENST00000263734.3	+	12	2099	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	530	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACACTGGCACCCTATATC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1588-1590)gCa>gTa		endothelial PAS domain protein 1							86	94	91					2																	46607400		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607400C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1589C>T	2.37:g.46607400C>T	ENSP00000263734:p.Ala530Val						p.A530V	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2099	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	530			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1589C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420544	0.96111	.	.	ENSG00000116016	ENST00000263734	D	0.98150	-4.75	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	530	Q99814	EPAS1_HUMAN	V	530	ENSP00000263734:A530V	ENSP00000263734:A530V	A	+	2	0	EPAS1	46460904	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	GCA		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		34	80	0	0	0	1	0	34	80					T	46607400	C	T	46607400	3	4	152	1	0	0	0	0	1	0	0	0	5150	710	25	3	1635	3	EPAS1	2	46607400	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08		46607400	196591973	3	2696										
ALMS1	7840	broad.mit.edu	37	chr2	73717628	73717628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accatacccttattagcatgGgcagaccaagttccacccta	6	14	0	1			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:73717628G>A	ENST00000264448.6	+	10	8650	c.8539G>A	c.(8539-8541)Ggc>Agc	p.G2847S	ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2847					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TATTAGCATGGGCAGACCAAG	0.403																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8539-8541)Ggc>Agc		Alstrom syndrome 1							72	68	69					2																	73717628		1884	4095	5979	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717628G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8539G>A	2.37:g.73717628G>A	ENSP00000264448:p.Gly2847Ser					ALMS1_ENST00000409009.1_Missense_Mutation_p.G2805S	p.G2847S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8650	+			2847					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.8539G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	7.203	0.593893	0.13875	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05855	3.38;3.38	4.54	-3.88	0.04205	.	0.753644	0.11847	N	0.523756	T	0.02888	0.0086	N	0.11560	0.145	0.19945	N	0.999943	B;B;B	0.17038	0.02;0.007;0.007	B;B;B	0.19946	0.027;0.027;0.027	T	0.43540	-0.9385	10	0.27082	T	0.32	.	6.6018	0.22705	0.6106:0.0:0.2478:0.1416	.	2847;2805;2847	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	2805;2847	ENSP00000386627:G2805S;ENSP00000264448:G2847S	ENSP00000264448:G2847S	G	+	1	0	ALMS1	73571136	0.003000	0.15002	0.003000	0.11579	0.992000	0.81027	-0.100000	0.10990	-0.938000	0.03714	-0.145000	0.13849	GGC		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		13	31	0	0	0	1	0	13	31					A	73717628	G	A	73717628	3	1	152	1	0	0	0	0	1	0	0	0	535	1232	43	3	8577	3	ALMS1	2	73717628	Missense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08	27110228	73717628	169481745	4	2697										
PKP4	8502	broad.mit.edu	37	chr2	159517885	159517885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aagaagctcggaagcaaatgCggtcctgcgaggggctggta	16	8	0	1			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr2:159517885C>T	ENST00000389759.3	+	13	2246	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.R712W	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	712					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GAAGCAAATGCGGTCCTGCGA	0.577										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2134-2136)Cgg>Tgg		plakophilin 4							94	90	91					2																	159517885		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159517885C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2134C>T	2.37:g.159517885C>T	ENSP00000374409:p.Arg712Trp	HNSCC(62;0.18)				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.R712W	p.R712W	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			13	2259	+			712					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2134C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359418	0.82353	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.81415	-1.49;-1.49	5.48	3.36	0.38483	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.91778	0.5433	10	0.87932	D	0	-11.2699	12.0373	0.53433	0.5731:0.4269:0.0:0.0	.	667;712;712;563	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	W	563;712;712	ENSP00000374407:R712W;ENSP00000374409:R712W	ENSP00000374407:R712W	R	+	1	2	PKP4	159226131	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.172000	0.50832	1.404000	0.46819	0.591000	0.81541	CGG		0.577	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			3	47	0	0	0	1	0	3	47					T	159517885	C	T	159517885	3	4	152	1	0	0	0	0	1	0	0	0	11987	759	27	1	2180	1	PKP4	2	159517885	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08	85800257	159517885	83681488	5	2698										
RNF168	165918	broad.mit.edu	37	chr3	196199525	196199525	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	accatggcataggggactctAttgaagaatctgcaccttgt	10	9	2	2			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr3:196199525A>G	ENST00000318037.3	-	6	1475	c.881T>C	c.(880-882)aTa>aCa	p.I294T	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	294					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AGGGGACTCTATTGAAGAATC	0.458																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(880-882)aTa>aCa		ring finger protein 168, E3 ubiquitin protein ligase							127	122	124					3																	196199525		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199525A>G	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.881T>C	3.37:g.196199525A>G	ENSP00000320898:p.Ile294Thr						p.I294T	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1475	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		294					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.881T>C	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	1.574	-0.533307	0.04082	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	5.86	2.2	0.27929	.	2.505920	0.01098	N	0.005301	T	0.05823	0.0152	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41179	-0.9523	10	0.27785	T	0.31	1.2268	9.6306	0.39776	0.7745:0.0:0.2255:0.0	.	294	Q8IYW5	RN168_HUMAN	T	294	ENSP00000320898:I294T	ENSP00000320898:I294T	I	-	2	0	RNF168	197683922	0.072000	0.21174	0.000000	0.03702	0.001000	0.01503	0.950000	0.29122	-0.077000	0.12752	-1.431000	0.01090	ATA		0.458	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		13	37	0	0	0	1	0	13	37					G	196199525	A	G	196199525	3	3	152	1	0	0	0	0	1	0	0	0	13459	449	16	4	838	4	RNF168	3	196199525	Missense_Mutation	SNP	A	TCGA-WB-A814-01A-11D-A35I-08		196199525	1822905	6	2699										
RBM24	221662	broad.mit.edu	37	chr6	17283076	17283076	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgctgccgaaagggcctgcaAggatcccaatcccatcattg	10	13	1	0			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr6:17283076A>T	ENST00000379052.5	+	2	445	c.209A>T	c.(208-210)aAg>aTg	p.K70M	RBM24_ENST00000318204.5_Missense_Mutation_p.K25M|RBM24_ENST00000425446.2_Missense_Mutation_p.K12M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	70	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGGGCCTGCAAGGATCCCAAT	0.483																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(208-210)aAg>aTg		RNA binding motif protein 24							115	96	102					6																	17283076		2203	4300	6503	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17283076A>T	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.209A>T	6.37:g.17283076A>T	ENSP00000368341:p.Lys70Met					RBM24_ENST00000425446.2_Missense_Mutation_p.K12M|RBM24_ENST00000318204.5_Missense_Mutation_p.K25M	p.K70M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		2	445	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	70			RRM.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.209A>T	CCDS47378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.95|19.95	3.922098|3.922098	0.73213|0.73213	.|.	.|.	ENSG00000112183|ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204|ENST00000503965	T;T;T;T|.	0.24908|.	2.24;2.93;1.83;3.24|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.162995|.	0.52532|.	D|.	0.000075|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.58969|0.58969	1.84|1.84	0.80722|0.80722	D|D	1|1	D;B;B|.	0.64830|.	0.994;0.146;0.146|.	D;B;B|.	0.64144|.	0.922;0.155;0.155|.	T|T	0.61287|0.61287	-0.7093|-0.7093	10|5	0.44086|.	T|.	0.13|.	-5.9856|-5.9856	14.4065|14.4065	0.67086|0.67086	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	25;70;70|.	Q9BX46-2;Q9BX46;A8KAI7|.	.;RBM24_HUMAN;.|.	M|W	70;29;12;25|35	ENSP00000368341:K70M;ENSP00000426222:K29M;ENSP00000396898:K12M;ENSP00000319551:K25M|.	ENSP00000319551:K25M|.	K|R	+|+	2|1	0|2	RBM24|RBM24	17391055|17391055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.089000|9.089000	0.94137|0.94137	1.807000|1.807000	0.52817|0.52817	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.483	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		3	43	0	0	0	1	0	3	43					T	17283076	A	T	17283076	3	4	152	1	0	0	0	0	1	0	0	0	13124	72	3	5	248	5	RBM24	6	17283076	Missense_Mutation	SNP	A	TCGA-WB-A814-01A-11D-A35I-08		17283076	153831991	7	2700										
TNS3	64759	broad.mit.edu	37	chr7	47344521	47344521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgtcgaggacgcatcagcccGgagcatcgtggatttgggtc	15	11	1	0			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr7:47344521G>A	ENST00000398879.1	-	21	3097	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	TNS3_ENST00000355730.3_Missense_Mutation_p.R671W|TNS3_ENST00000311160.9_Missense_Mutation_p.R911W			Q68CZ2	TENS3_HUMAN	tensin 3	911					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCATCAGCCCGGAGCATCGTG	0.587																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2731-2733)Cgg>Tgg		tensin 3							64	73	70					7																	47344521		2136	4260	6396	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47344521G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2731C>T	7.37:g.47344521G>A	ENSP00000381854:p.Arg911Trp					TNS3_ENST00000355730.3_Missense_Mutation_p.R671W|TNS3_ENST00000311160.9_Missense_Mutation_p.R911W	p.R911W			Q68CZ2	TENS3_HUMAN			21	3097	-			911					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.2731C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603451	0.66445	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.95103	-3.1;-3.1;-3.61;-3.24	5.55	2.22	0.28083	.	0.864875	0.10313	N	0.689678	D	0.91181	0.7222	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.50378	0.639	D	0.86186	0.1609	10	0.72032	D	0.01	-7.0276	2.1968	0.03913	0.1277:0.2032:0.4931:0.1761	.	911	Q68CZ2	TENS3_HUMAN	W	911;1021;911;671;367;1014	ENSP00000312143:R911W;ENSP00000381854:R911W;ENSP00000347968:R671W;ENSP00000414358:R1014W	ENSP00000312143:R911W	R	-	1	2	TNS3	47311046	0.787000	0.28750	0.963000	0.40424	0.542000	0.35054	1.792000	0.38754	0.508000	0.28173	0.655000	0.94253	CGG		0.587	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		3	29	0	0	0	1	0	3	29					A	47344521	G	A	47344521	3	1	152	1	0	0	0	0	1	0	0	0	16341	1115	39	2	1650	2	TNS3	7	47344521	Missense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08		47344521	111794142	8	2701										
MUC17	140453	broad.mit.edu	37	chr7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgctgaaggtagcagcatgCcaacctcaactcctggtgaa	10	12	1	2	rs71286275		TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P2683S(1)	urinary_tract(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8047-8049)Cca>Tca		mucin 17, cell surface associated							225	230	228					7																	100682744		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682744C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8047C>T	7.37:g.100682744C>T	ENSP00000302716:p.Pro2683Ser						p.P2683S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8111	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2683			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8047C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112671	0.08831	.	.	ENSG00000169876	ENST00000306151	T	0.01854	4.6	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04880	-0.145	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.25745	-1.0123	9	0.08599	T	0.76	.	0.3885	0.00406	0.2439:0.3108:0.2431:0.2021	.	2683	Q685J3	MUC17_HUMAN	S	2683	ENSP00000302716:P2683S	ENSP00000302716:P2683S	P	+	1	0	MUC17	100469464	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.262000	0.01175	-0.688000	0.05155	0.134000	0.15878	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	293	0	0	0	1	0	5	293					T	100682744	C	T	100682744	3	4	152	1	0	0	0	0	1	0	0	0	9974	739	26	3	8057	3	MUC17	7	100682744	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08	53338223	100682744	58455919	9	2702										
MRVI1	10335	broad.mit.edu	37	chr11	10602002	10602002	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tccaaacacaggcttcccacCtgcttcttgggcccttttcc	6	17	1	0			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr11:10602002C>T	ENST00000436272.1	-	19	2492	c.2414G>A	c.(2413-2415)aGc>aAc	p.S805N	MRVI1_ENST00000547195.1_Splice_Site_p.S741N|MRVI1_ENST00000541483.1_Splice_Site_p.S626N|MRVI1_ENST00000424001.1_Splice_Site_p.S517N|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000552103.1_Splice_Site_p.S741N|MRVI1_ENST00000545852.1_Splice_Site_p.S517N|MRVI1_ENST00000558540.1_Splice_Site_p.S517N|MRVI1_ENST00000423302.2_Splice_Site_p.S832N|MRVI1_ENST00000421747.1_Splice_Site_p.S823N|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000527509.2_Splice_Site_p.S741N|MRVI1_ENST00000531107.1_Splice_Site_p.S824N|MRVI1_ENST00000534266.2_Splice_Site_p.S517N			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	805	Glu-rich.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCTTCCCACCTGCTTCTTGG	0.488																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.e19+1		murine retrovirus integration site 1 homolog							288	289	289					11																	10602002		1878	4088	5966	SO:0001630	splice_region_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10602002C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2414+1G>A	11.37:g.10602002C>T						MRVI1_ENST00000545852.1_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000558540.1_Splice_Site_p.S517_splice|MRVI1_ENST00000423302.2_Splice_Site_p.S832_splice|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Splice_Site_p.S741_splice|MRVI1_ENST00000541483.1_Splice_Site_p.S626_splice|MRVI1_ENST00000531107.1_Splice_Site_p.S824_splice|MRVI1_ENST00000527509.2_Splice_Site_p.S741_splice|MRVI1_ENST00000436272.1_Splice_Site_p.S805_splice|MRVI1_ENST00000421747.1_Splice_Site_p.S823_splice|MRVI1_ENST00000534266.2_Splice_Site_p.S517_splice|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000424001.1_Splice_Site_p.S517_splice	p.S741_splice	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	19	2722	-			805					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Splice_Site	SNP	ENST00000436272.1	37	c.2222_splice		.	.	.	.	.	.	.	.	.	.	C	16.57	3.160861	0.57368	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.34	4.41	0.53225	.	0.162599	0.53938	D	0.000045	T	0.13927	0.0337	L	0.33485	1.01	0.49582	D	0.999807	B;B;B;B	0.31931	0.347;0.121;0.121;0.099	B;B;B;B	0.30105	0.085;0.066;0.111;0.067	T	0.06356	-1.0831	9	.	.	.	-12.544	15.1033	0.72299	0.143:0.8569:0.0:0.0	.	626;805;824;823	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	N	823;806;805;741;741;517;517;832;626;824;741	ENSP00000414598:S823N;ENSP00000412229:S805N;ENSP00000448278:S741N;ENSP00000446764:S741N;ENSP00000441971:S517N;ENSP00000401205:S517N;ENSP00000412130:S832N;ENSP00000437784:S626N;ENSP00000432436:S824N;ENSP00000432067:S741N	.	S	-	2	0	MRVI1	10558578	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.969000	0.63735	1.324000	0.45282	0.655000	0.94253	AGC		0.488	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	Missense_Mutation	4	169	0	0	0	1	0	4	169					T	10602002	C	T	10602002	5	4	152	1	0	0	0	0	0	0	1	0	9853	695	24	3	251	3	MRVI1	11	10602002	Splice_Site	SNP	C	TCGA-WB-A814-01A-11D-A35I-08		10602002	124404514	10	2703										
AHNAK	79026	broad.mit.edu	37	chr11	62288421	62288421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttcaatgtctacctctggccCtttcagatcactttccacct	4	15	5	1			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr11:62288421C>T	ENST00000378024.4	-	5	13742	c.13468G>A	c.(13468-13470)Ggg>Agg	p.G4490R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4490					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACCTCTGGCCCTTTCAGATCA	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13468-13470)Ggg>Agg		AHNAK nucleoprotein							92	87	88					11																	62288421		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288421C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13468G>A	11.37:g.62288421C>T	ENSP00000367263:p.Gly4490Arg					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G4490R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13742	-		Melanoma(852;0.155)	4490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13468G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591957	0.46214	.	.	ENSG00000124942	ENST00000378024	T	0.02890	4.12	5.12	4.21	0.49690	.	0.701493	0.11600	N	0.547894	T	0.20088	0.0483	H	0.94808	3.585	0.20975	N	0.999811	D	0.71674	0.998	D	0.72075	0.976	T	0.41142	-0.9525	10	0.12103	T	0.63	.	13.4863	0.61369	0.0:0.9235:0.0:0.0765	.	4490	Q09666	AHNK_HUMAN	R	4490	ENSP00000367263:G4490R	ENSP00000367263:G4490R	G	-	1	0	AHNAK	62044997	0.002000	0.14202	0.043000	0.18650	0.955000	0.61496	1.838000	0.39211	1.292000	0.44672	0.643000	0.83706	GGG		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		36	53	0	0	0	1	0	36	53					T	62288421	C	T	62288421	3	4	152	1	0	0	0	0	1	0	0	0	414	681	24	3	4324	3	AHNAK	11	62288421	Missense_Mutation	SNP	C	TCGA-WB-A814-01A-11D-A35I-08	51686419	62288421	72718095	11	2704										
HNRNPM	4670	broad.mit.edu	37	chr19	8550640	8550640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	catgggcctggtcatggaccGcatgggctccgtggagcgca	16	12	1	0			TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr19:8550640G>A	ENST00000325495.4	+	14	1369	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R404H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	443	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTCATGGACCGCATGGGCTCC	0.711																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1210-1212)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							64	69	67					19																	8550640		2203	4298	6501	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550640G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1328G>A	19.37:g.8550640G>A	ENSP00000325376:p.Arg443His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R443H	p.R404H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1443	+			443			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1211G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247682	0.95305	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.18960	2.18;2.51	5.76	5.76	0.90799	.	0.102866	0.64402	D	0.000001	T	0.48259	0.1490	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;0.994	D;D;P;P	0.66979	0.926;0.948;0.599;0.719	T	0.46119	-0.9214	10	0.87932	D	0	.	18.534	0.91002	0.0:0.0:1.0:0.0	.	283;443;404;328	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	443;404;328	ENSP00000325376:R443H;ENSP00000325732:R404H	ENSP00000325376:R443H	R	+	2	0	HNRNPM	8456640	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.508000	0.81686	2.724000	0.93272	0.491000	0.48974	CGC		0.711	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			5	154	0	0	0	1	0	5	154					A	8550640	G	A	8550640	3	1	152	1	0	0	0	0	1	0	0	0	7271	1087	38	1	1382	1	HNRNPM	19	8550640	Missense_Mutation	SNP	G	TCGA-WB-A814-01A-11D-A35I-08		8550640	50578343	12	2705										
CLIP3	25999	broad.mit.edu	37	chr19	36523167	36523167	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	cggcgctcctgggtggggctGggggcctcggggacgggttc							TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chr19:36523167delG	ENST00000360535.4	-	2	320	c.93delC	c.(91-93)cccfs	p.P31fs	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Del_p.P31fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	31					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGTGGGGCTGGGGGCCTCGG	0.662																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(91-93)ccfs		CAP-GLY domain containing linker protein 3							4	6	5					19																	36523167		2123	4170	6293	SO:0001589	frameshift_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36523167delG	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.93delC	19.37:g.36523167delG	ENSP00000353732:p.Pro31fs					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Del_p.P31fs	p.P31fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	320	-	Esophageal squamous(110;0.162)		31					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Frame_Shift_Del	DEL	ENST00000360535.4	37	c.93delC	CCDS12486.1																																																																																				0.662	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		2	4						2	4	---	---	---	---	-	36523167	G	-	36523167	7	5	152	1	0	1	0	1	0	0	0	0	3534	1335	47	0	1602	0	CLIP3	19	36523167	Frame_Shift_Del	DEL	G	TCGA-WB-A814-01A-11D-A35I-08	27972527	36523167	22605816	13	2706										
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-													0	0	1	0	NA	0	1	1	0	gtggcgacagggcgatccccCcgccgccgccgccgcagccc							TCGA-WB-A814-01A-11D-A35I-08	TCGA-WB-A814-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee7bbf0-8fb1-474a-a8ce-357c0c9cc53e	34552440-20c8-4b1b-a73a-00916e34f67c	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000496695.1_5'Flank	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(238-243)ggg>gg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	57,2761		4,39,10,1217,288					,,	4.4	1			10	122,4848		9,60,44,1818,1152	no	coding,utr-5,coding	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	13,99,54,3035,1440	A1A1,A1R,A1,RR,R		2.4547,2.0227,2.2984	,,	,,		179,7609				SO:0001651	inframe_deletion	9949							g.chrX:109561058_109561060delCCG	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.240_242delCGG	X.37:g.109561067_109561069delCCG	ENSP00000262844:p.Gly82del					AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR	p.GG80del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	407_409	-			80			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.240_242delCGG	CCDS14551.1																																																																																				0.734	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			2	4						2	4	---	---	---	---	-	109561060	CCG	-	109561058	7	5	152	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-WB-A814-01A-11D-A35I-08		109561058	45709502	14	2707										
H6PD	9563	broad.mit.edu	37	chr1	9322245	9322245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	agtgcggaggctgtgctgcgGcacaagcttcaggtcttcca	14	11	2	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:9322245G>A	ENST00000377403.2	+	4	1175	c.873G>A	c.(871-873)cgG>cgA	p.R291R	H6PD_ENST00000602477.1_Silent_p.R302R	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	291	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGCTGCGGCACAAGCTTC	0.642																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(871-873)cgG>cgA		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						50	49	49					1																	9322245		2203	4300	6503	SO:0001819	synonymous_variant	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9322245G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.873G>A	1.37:g.9322245G>A						H6PD_ENST00000602477.1_Silent_p.R302R	p.R291R	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	4	1175	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	291			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Silent	SNP	ENST00000377403.2	37	c.873G>A	CCDS101.1																																																																																				0.642	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		3	20	0	0	0	1	0	3	20					A	9322245	G	A	9322245	2	1	153	1	0	0	0	0	0	0	0	1	6936	1190	42	3		3	H6PD	1	9322245	Silent	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		9322245	239928376	1	2708										
ORC1L	4998	broad.mit.edu	37	chr1	52859253	52859253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	ttcgggttctcaggattatgCgatgttcaggtgaagccttc	12	8	2	1			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:52859253C>T	ENST00000371568.3	-	6	1162	c.944G>A	c.(943-945)cGc>cAc	p.R315H	ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	315					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R315H(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGATTATGCGATGTTCAGG	0.468																																						ENST00000371568.3																			1	Substitution - Missense(1)	p.R315H(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(943-945)cGc>cAc		origin recognition complex, subunit 1							210	190	197					1																	52859253		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52859253C>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.944G>A	1.37:g.52859253C>T	ENSP00000360623:p.Arg315His					ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			6	1162	-			315					D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.944G>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.230125	0.22542	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.42131	0.98;0.98	4.12	-4.68	0.03309	.	2.624730	0.00644	N	0.000533	T	0.19525	0.0469	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17440	-1.0369	10	0.42905	T	0.14	6.0687	5.953	0.19257	0.0:0.4234:0.3045:0.2721	.	315;315	B7Z8H0;Q13415	.;ORC1_HUMAN	H	315	ENSP00000360623:R315H;ENSP00000360621:R315H	ENSP00000360621:R315H	R	-	2	0	ORC1	52631841	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.945000	0.03681	-0.302000	0.09304	CGC		0.468	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		4	114	0	0	0	1	0	4	114					T	52859253	C	T	52859253	3	4	153	1	0	0	0	0	1	0	0	0	11261	768	27	1	1689	1	ORC1L	1	52859253	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	43537008	52859253	196391368	2	2709										
CD101	9398	broad.mit.edu	37	chr1	117564514	117564514	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	cggggcaaatatcactgtgcTgtggaggaatggctcctgtc	14	9	1	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:117564514T>C	ENST00000256652.4	+	7	2395	c.2337T>C	c.(2335-2337)gcT>gcC	p.A779A	CD101_ENST00000369470.1_Silent_p.A779A	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	779	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCACTGTGCTGTGGAGGAAT	0.433																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2335-2337)gcT>gcC		CD101 molecule							100	100	100					1																	117564514		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117564514T>C	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2337T>C	1.37:g.117564514T>C						CD101_ENST00000369470.1_Silent_p.A779A	p.A779A	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			7	2395	+			779			Ig-like C2-type 6.		Q15856	Silent	SNP	ENST00000256652.4	37	c.2337T>C	CCDS891.1																																																																																				0.433	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		28	50	0	0	0	1	0	28	50					C	117564514	T	C	117564514	2	2	153	1	0	0	0	0	0	0	0	1	2962	1567	55	4		4	CD101	1	117564514	Silent	SNP	T	TCGA-WB-A815-01A-11D-A35I-08	64705261	117564514	131686107	3	2710										
C1orf56	54964	broad.mit.edu	37	chr1	151020749	151020749	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	agcacgaggtttatagccaaTagtcaggagcctgaaatcag	11	8	2	1	rs587603472	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:151020749T>C	ENST00000368926.5	+	1	534	c.426T>C	c.(424-426)aaT>aaC	p.N142N		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	142						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTATAGCCAATAGTCAGGAGC	0.592											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(424-426)aaT>aaC		chromosome 1 open reading frame 56							42	43	42					1																	151020749		2203	4300	6503	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020749T>C	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.426T>C	1.37:g.151020749T>C			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737		p.N142N	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	534	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		142					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.426T>C	CCDS980.1																																																																																				0.592	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		19	47	0	0	0	1	0	19	47					C	151020749	T	C	151020749	2	2	153	1	0	0	0	0	0	0	0	1	2048	1403	49	4		4	C1orf56	1	151020749	Silent	SNP	T	TCGA-WB-A815-01A-11D-A35I-08	33456235	151020749	98229872	4	2711										
CLK2	1196	broad.mit.edu	37	chr1	155234529	155234529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	actgccaaagtctaccacccGcacagctgtgctcttcacac	6	17	3	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:155234529G>A	ENST00000368361.4	-	9	1285	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R322W|CLK2_ENST00000361168.5_Missense_Mutation_p.R323W|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W|SCAMP3_ENST00000302631.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTACCACCCGCACAGCTGTG	0.532								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(970-972)Cgg>Tgg	Other conserved DNA damage response genes	CDC-like kinase 2							117	102	107					1																	155234529		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234529G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"CDC-like kinases"	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.970C>T	1.37:g.155234529G>A	ENSP00000357345:p.Arg324Trp					CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.R324W|CLK2_ENST00000361168.5_Missense_Mutation_p.R323W|CLK2_ENST00000355560.4_Missense_Mutation_p.R322W	p.R324W			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1285	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		324			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.970C>T		.	.	.	.	.	.	.	.	.	.	.	19.63	3.864222	0.71949	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.37244	-0.9714	10	0.87932	D	0	.	11.1193	0.48279	0.0:0.0:0.7243:0.2757	.	324;323	P49760;P49760-3	CLK2_HUMAN;.	W	323;324;322;96;324	ENSP00000354856:R323W;ENSP00000357345:R324W;ENSP00000347759:R322W;ENSP00000441023:R324W	ENSP00000347759:R322W	R	-	1	2	CLK2	153501153	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.161000	0.50747	2.767000	0.95098	0.650000	0.86243	CGG		0.532	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		4	54	0	0	0	1	0	4	54					A	155234529	G	A	155234529	3	1	153	1	0	0	0	0	1	0	0	0	3537	1086	38	1	549	1	CLK2	1	155234529	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08	4213780	155234529	94016092	5	2712										
CNST	163882	broad.mit.edu	37	chr1	246754968	246754968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	tgtgacctgtctgccttctgCatcagatgaaaatgaaaatc	8	9	3	4			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr1:246754968C>T	ENST00000366513.4	+	2	373	c.104C>T	c.(103-105)gCa>gTa	p.A35V	CNST_ENST00000366512.3_Missense_Mutation_p.A35V|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	35					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CTGCCTTCTGCATCAGATGAA	0.498																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(103-105)gCa>gTa		consortin, connexin sorting protein							148	129	136					1																	246754968		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246754968C>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.104C>T	1.37:g.246754968C>T	ENSP00000355470:p.Ala35Val					CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.A35V	p.A35V	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			2	373	+			35					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.104C>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759866	0.31137	.	.	ENSG00000162852	ENST00000366513;ENST00000366512;ENST00000366511	T;T;T	0.13420	2.59;2.59;2.59	6.17	-0.332	0.12675	.	0.470518	0.20497	N	0.091172	T	0.08268	0.0206	N	0.22421	0.69	0.20638	N	0.999879	B;B	0.14012	0.009;0.009	B;B	0.15484	0.009;0.013	T	0.36311	-0.9753	10	0.21014	T	0.42	-15.8762	11.4496	0.50145	0.0:0.8016:0.0:0.1984	.	35;35	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	V	35	ENSP00000355470:A35V;ENSP00000355469:A35V;ENSP00000355468:A35V	ENSP00000355468:A35V	A	+	2	0	CNST	244821591	0.495000	0.26051	0.880000	0.34516	0.994000	0.84299	0.438000	0.21559	-0.056000	0.13221	0.655000	0.94253	GCA		0.498	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		17	64	0	0	0	1	0	17	64					T	246754968	C	T	246754968	3	4	153	1	0	0	0	0	1	0	0	0	3634	710	25	3	106	3	CNST	1	246754968	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	91520439	246754968	2495653	6	2713										
BUB1	699	broad.mit.edu	37	chr2	111413372	111413372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	gcttgtggaatggtgtagacGcaagttgtgcagcagatgtg	16	5	0	2			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr2:111413372G>A	ENST00000302759.6	-	16	1938	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	BUB1_ENST00000535254.1_Missense_Mutation_p.A587V|BUB1_ENST00000409311.1_Missense_Mutation_p.A607V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	607					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGTGTAGACGCAAGTTGTGC	0.463																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1759-1761)gCg>gTg		BUB1 mitotic checkpoint serine/threonine kinase							238	217	224					2																	111413372		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111413372G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1820C>T	2.37:g.111413372G>A	ENSP00000302530:p.Ala607Val					BUB1_ENST00000409311.1_Missense_Mutation_p.A607V|BUB1_ENST00000302759.6_Missense_Mutation_p.A607V	p.A587V	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	15	1827	-		Ovarian(717;0.0822)	607					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1760C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855712	0.32791	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32023	2.24;1.47;2.5	5.73	4.86	0.63082	.	0.284569	0.38663	N	0.001614	T	0.19366	0.0465	L	0.41573	1.285	0.22745	N	0.998784	P;P;P	0.39250	0.601;0.505;0.665	B;B;B	0.24006	0.043;0.05;0.036	T	0.12785	-1.0534	10	0.20046	T	0.44	-9.9651	12.3922	0.55364	0.0813:0.0:0.9187:0.0	.	587;607;607	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	587;607;607;607	ENSP00000441013:A587V;ENSP00000386701:A607V;ENSP00000302530:A607V	ENSP00000302530:A607V	A	-	2	0	BUB1	111129845	0.992000	0.36948	0.015000	0.15790	0.930000	0.56654	4.198000	0.58419	1.410000	0.46936	0.655000	0.94253	GCG		0.463	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	136	0	0	0	1	0	4	136					A	111413372	G	A	111413372	3	1	153	1	0	0	0	0	1	0	0	0	1570	1087	38	1	1477	1	BUB1	2	111413372	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		111413372	131786001	7	2714										
MERTK	10461	broad.mit.edu	37	chr2	112722783	112722783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	tccaggcctgacggagatggCggtcttcagttgtgaggccc	15	11	2	3	rs35252762	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr2:112722783C>T	ENST00000295408.4	+	5	1030	c.773C>T	c.(772-774)gCg>gTg	p.A258V	MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	258	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACGGAGATGGCGGTCTTCAGT	0.502																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(772-774)gCg>gTg		c-mer proto-oncogene tyrosine kinase							122	98	106					2																	112722783		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112722783C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.773C>T	2.37:g.112722783C>T	ENSP00000295408:p.Ala258Val					MERTK_ENST00000421804.2_Missense_Mutation_p.A258V|MERTK_ENST00000409780.1_Missense_Mutation_p.A82V	p.A258V			Q12866	MERTK_HUMAN			5	1030	+			258			Ig-like C2-type 2.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.773C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507892	0.85282	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.38560	1.13;1.13;1.13	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.244798	0.20989	U	0.082066	T	0.54727	0.1876	M	0.78916	2.43	0.47476	D	0.99943	D	0.53312	0.959	P	0.46237	0.508	T	0.62558	-0.6829	10	0.72032	D	0.01	-17.3431	19.2107	0.93753	0.0:1.0:0.0:0.0	.	258	Q12866	MERTK_HUMAN	V	258;258;82	ENSP00000295408:A258V;ENSP00000389152:A258V;ENSP00000387277:A82V	ENSP00000295408:A258V	A	+	2	0	MERTK	112439254	0.927000	0.31430	0.043000	0.18650	0.335000	0.28730	4.966000	0.63715	2.640000	0.89533	0.563000	0.77884	GCG		0.502	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	44	0	0	0	1	0	4	44					T	112722783	C	T	112722783	3	4	153	1	0	0	0	0	1	0	0	0	9479	768	27	1	791	1	MERTK	2	112722783	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	1309411	112722783	130476590	8	2715										
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	14	11	0	0	rs374381483		TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q413Q	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		3	38	0	0	0	1	0	3	38					T	65425585	C	T	65425585	2	4	153	1	0	0	0	0	0	0	0	1	9190	796	28	3		3	MAGI1	3	65425585	Silent	SNP	C	TCGA-WB-A815-01A-11D-A35I-08		65425585	132596845	9	2716										
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108	110	110					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		4	97	0	0	0	1	0	4	97					T	152554482	C	T	152554482	3	4	153	1	0	0	0	0	1	0	0	0	11346	739	26	3	913	3	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	87128897	152554482	45467948	10	2717										
ACOT12	134526	broad.mit.edu	37	chr5	80640854	80640854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	gcctccacgcgaactccaacTtcaacactgtgaagggtgat	9	13	1	2			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr5:80640854T>G	ENST00000307624.3	-	8	808	c.780A>C	c.(778-780)gaA>gaC	p.E260D	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	260	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GAACTCCAACTTCAACACTGT	0.577																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(778-780)gaA>gaC		acyl-CoA thioesterase 12							61	57	58					5																	80640854		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640854T>G	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.780A>C	5.37:g.80640854T>G	ENSP00000303246:p.Glu260Asp						p.E260D	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	808	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	260			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.780A>C	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447249	0.84101	.	.	ENSG00000172497	ENST00000307624	T	0.23552	1.9	5.53	1.91	0.25777	Thioesterase superfamily (1);	0.055265	0.64402	D	0.000001	T	0.47911	0.1471	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.41680	-0.9495	10	0.54805	T	0.06	-10.3803	7.9308	0.29901	0.0:0.3085:0.0:0.6915	.	260	Q8WYK0	ACO12_HUMAN	D	260	ENSP00000303246:E260D	ENSP00000303246:E260D	E	-	3	2	ACOT12	80676610	1.000000	0.71417	0.954000	0.39281	0.914000	0.54420	1.100000	0.31025	0.410000	0.25675	0.459000	0.35465	GAA		0.577	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		23	21	0	0	0	1	0	23	21					G	80640854	T	G	80640854	3	3	153	1	0	0	0	0	1	0	0	0	150	1606	56	5	919	5	ACOT12	5	80640854	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		80640854	100274406	11	2718										
TINAG	27283	broad.mit.edu	37	chr6	54191706	54191706	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	ccatgctcctgagcatgaatGaaatgacagtaagtgttcct	9	9	0	4			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr6:54191706G>T	ENST00000259782.4	+	4	712	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	206					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAGCATGAATGAAATGACAGT	0.368																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(616-618)Gaa>Taa		tubulointerstitial nephritis antigen							133	116	122					6																	54191706		2203	4300	6503	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191706G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.616G>T	6.37:g.54191706G>T	ENSP00000259782:p.Glu206*					TINAG_ENST00000370864.3_Nonsense_Mutation_p.E188*|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E202*	p.E206*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	712	+	Lung NSC(77;0.0518)		206					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.616G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682241	0.88542	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	.	.	.	5.7	4.84	0.62591	.	0.718598	0.13446	N	0.387242	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	10.6339	0.45554	0.088:0.0:0.912:0.0	.	.	.	.	X	202;156;206;188	.	ENSP00000259782:E206X	E	+	1	0	TINAG	54299665	0.999000	0.42202	0.982000	0.44146	0.992000	0.81027	2.073000	0.41519	1.417000	0.47077	0.643000	0.83706	GAA		0.368	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		10	28	1	0	0.000442599	1	0.000454894	10	28					T	54191706	G	T	54191706	4	4	153	1	0	0	0	0	0	1	0	0	15918	1291	45	5	630	5	TINAG	6	54191706	Nonsense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		54191706	116923361	12	2719										
UTRN	7402	broad.mit.edu	37	chr6	144761510	144761510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	tttgcaaagtgatcttgaggCtgaacaggtgaaagtaaatt	11	4	1	4			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr6:144761510C>T	ENST00000367545.3	+	12	1415	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	472	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATCTTGAGGCTGAACAGGTG	0.358																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(1414-1416)gCt>gTt		utrophin							120	118	118					6																	144761510		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144761510C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1415C>T	6.37:g.144761510C>T	ENSP00000356515:p.Ala472Val						p.A472V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	12	1415	+		Ovarian(120;0.218)	472			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.1415C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933034	0.73442	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.55234	0.53	5.51	5.51	0.81932	.	0.253056	0.28146	N	0.016440	T	0.57021	0.2025	L	0.59436	1.845	0.80722	D	1	P	0.43024	0.798	P	0.51516	0.672	T	0.57081	-0.7872	10	0.54805	T	0.06	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	472	P46939	UTRO_HUMAN	V	472	ENSP00000356515:A472V	ENSP00000356499:A472V	A	+	2	0	UTRN	144803203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.751000	0.55165	2.756000	0.94617	0.650000	0.86243	GCT		0.358	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	29	0	0	0	1	0	8	29					T	144761510	C	T	144761510	3	4	153	1	0	0	0	0	1	0	0	0	17100	797	28	3	1461	3	UTRN	6	144761510	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	90569804	144761510	26353557	13	2720										
GPNMB	10457	broad.mit.edu	37	chr7	23296635	23296635	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	gatgggaaaccttttcctcaCcaccccggatggagaagatg	11	11	1	2			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:23296635C>G	ENST00000381990.2	+	4	653	c.492C>G	c.(490-492)caC>caG	p.H164Q	GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q|GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.H164Q	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	164					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTTTTCCTCACCACCCCGGAT	0.463																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(490-492)caC>caG		glycoprotein (transmembrane) nmb							132	117	122					7																	23296635		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23296635C>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.492C>G	7.37:g.23296635C>G	ENSP00000371420:p.His164Gln					GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.H164Q|GPNMB_ENST00000409458.3_Missense_Mutation_p.H164Q|GPNMB_ENST00000539136.1_Missense_Mutation_p.H65Q	p.H164Q			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	787	+			164					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.492C>G	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	8.669	0.902402	0.17760	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.04	0.976	0.19727	.	0.811587	0.11379	N	0.570057	T	0.08980	0.0222	L	0.38838	1.175	0.09310	N	0.999999	P;B;B;P	0.38767	0.646;0.112;0.019;0.646	B;B;B;B	0.35931	0.214;0.047;0.009;0.214	T	0.31833	-0.9929	10	0.19590	T	0.45	-0.0029	5.925	0.19108	0.0:0.4736:0.2654:0.261	.	65;164;164;164	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	Q	164;199;164;164;65	ENSP00000258733:H164Q;ENSP00000371420:H164Q;ENSP00000386476:H164Q;ENSP00000445266:H65Q	ENSP00000258733:H164Q	H	+	3	2	GPNMB	23263160	0.004000	0.15560	0.001000	0.08648	0.528000	0.34623	0.433000	0.21477	0.215000	0.20761	-0.305000	0.09177	CAC		0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		21	81	0	0	0	1	0	21	81					G	23296635	C	G	23296635	3	3	153	1	0	0	0	0	1	0	0	0	6620	506	18	5	506	5	GPNMB	7	23296635	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08		23296635	135842028	14	2721										
GLI3	2737	broad.mit.edu	37	chr7	42085066	42085066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	taatgtctgcataggggctgCgctggccagttagcagggcc	15	10	1	0	rs186337909	byFrequency	TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr7:42085066C>T	ENST00000395925.3	-	6	827	c.743G>A	c.(742-744)cGc>cAc	p.R248H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	248					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATAGGGGCTGCGCTGGCCAGT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				C|||	3	0.000599042	0.0023	0	5008	,	,		15770	0		0	False		,,,				2504	0					ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(742-744)cGc>cAc		GLI family zinc finger 3							71	77	75					7																	42085066		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42085066C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.743G>A	7.37:g.42085066C>T	ENSP00000379258:p.Arg248His					GLI3_ENST00000479210.1_5'UTR	p.R248H	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			6	827	-			248					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.743G>A	CCDS5465.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	32	5.160255	0.94727	.	.	ENSG00000106571	ENST00000395925	T	0.69926	-0.44	5.58	5.58	0.84498	.	0.100233	0.64402	D	0.000002	T	0.47655	0.1457	L	0.40543	1.245	0.80722	D	1	P	0.46220	0.874	B	0.32864	0.154	T	0.56238	-0.8012	10	0.33141	T	0.24	.	19.5837	0.95482	0.0:1.0:0.0:0.0	.	248	P10071	GLI3_HUMAN	H	248	ENSP00000379258:R248H	ENSP00000379258:R248H	R	-	2	0	GLI3	42051591	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.447000	0.80620	2.630000	0.89119	0.655000	0.94253	CGC		0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		59	61	0	0	0	1	0	59	61					T	42085066	C	T	42085066	3	4	153	1	0	0	0	0	1	0	0	0	6439	768	27	1	4039	1	GLI3	7	42085066	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	18788431	42085066	117053597	15	2722										
HSDL2	84263	broad.mit.edu	37	chr9	115200815	115200815	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	catattccattttccaaaagCcaaaaagttttactggcaac	4	10	0	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr9:115200815C>G	ENST00000398805.3	+	7	930	c.703C>G	c.(703-705)Cca>Gca	p.P235A	HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	235						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TTTCCAAAAGCCAAAAAGTTT	0.358																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(703-705)Cca>Gca		hydroxysteroid dehydrogenase like 2							77	70	72					9																	115200815		1828	4085	5913	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115200815C>G	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18572	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 13C, member 1"		"chromosome 9 open reading frame 99"	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.703C>G	9.37:g.115200815C>G	ENSP00000381785:p.Pro235Ala					HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.P30A|HSDL2_ENST00000398803.1_Missense_Mutation_p.P162A|HSDL2_ENST00000262542.7_Missense_Mutation_p.P115A	p.P235A	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN			7	930	+			235					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.703C>G	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268625	0.80469	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;D;T;T	0.89485	-2.52;-2.52;1.78;1.9	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	M	0.77313	2.365	0.80722	D	1	P;P	0.48503	0.911;0.822	B;B	0.38156	0.266;0.193	D	0.90230	0.4278	10	0.51188	T	0.08	.	19.5631	0.95380	0.0:1.0:0.0:0.0	.	162;235	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	A	235;162;115;30	ENSP00000381785:P235A;ENSP00000381783:P162A;ENSP00000262542:P115A;ENSP00000442278:P30A	ENSP00000262542:P115A	P	+	1	0	HSDL2	114240636	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.724000	0.68500	2.628000	0.89032	0.491000	0.48974	CCA		0.358	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		20	43	0	0	0	1	0	20	43					G	115200815	C	G	115200815	3	3	153	1	0	0	0	0	1	0	0	0	7394	739	26	5	729	5	HSDL2	9	115200815	Missense_Mutation	SNP	C	TCGA-WB-A815-01A-11D-A35I-08		115200815	26012616	16	2723										
UPF2	26019	broad.mit.edu	37	chr10	12071006	12071006	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	ggactcccgatcagcattaaTaatattttttagctgttcat	6	8	2	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:12071006T>C	ENST00000356352.2	-	2	1356	c.883A>G	c.(883-885)Att>Gtt	p.I295V	UPF2_ENST00000397053.2_Missense_Mutation_p.I295V|UPF2_ENST00000357604.5_Missense_Mutation_p.I295V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	295	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCAGCATTAATAATATTTTTT	0.368																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(883-885)Att>Gtt		UPF2 regulator of nonsense transcripts homolog (yeast)							63	63	63					10																	12071006		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12071006T>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.883A>G	10.37:g.12071006T>C	ENSP00000348708:p.Ile295Val					UPF2_ENST00000357604.5_Missense_Mutation_p.I295V|UPF2_ENST00000397053.2_Missense_Mutation_p.I295V	p.I295V			Q9HAU5	RENT2_HUMAN			2	1356	-		Renal(717;0.228)	295			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.883A>G	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983033	0.53827	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.21543	2.0;2.0;2.0	6.17	5.03	0.67393	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.49455	1.56	0.80722	D	1	B;P	0.43477	0.106;0.808	B;P	0.46172	0.032;0.506	T	0.01051	-1.1468	10	0.39692	T	0.17	.	12.6751	0.56889	0.0:0.065:0.0:0.935	.	265;295	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	V	295;295;265;295;265	ENSP00000348708:I295V;ENSP00000350221:I295V;ENSP00000380244:I295V	ENSP00000313617:I265V	I	-	1	0	UPF2	12111012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.120000	0.64685	2.371000	0.80710	0.533000	0.62120	ATT		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			18	48	0	0	0	1	0	18	48					C	12071006	T	C	12071006	3	2	153	1	0	0	0	0	1	0	0	0	17001	1406	49	4	3015	4	UPF2	10	12071006	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		12071006	123463741	17	2724										
OGDHL	55753	broad.mit.edu	37	chr10	50948877	50948877	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	tggtcatggagaacatggtgCcggtgactgcagagacacag	15	8	1	3			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:50948877C>G	ENST00000374103.4	-	16	2104	c.2019G>C	c.(2017-2019)cgG>cgC	p.R673R	OGDHL_ENST00000432695.1_Silent_p.R464R|OGDHL_ENST00000419399.1_Silent_p.R616R|OGDHL_ENST00000490844.1_5'Flank	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	673					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GAACATGGTGCCGGTGACTGC	0.637																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2017-2019)cgG>cgC		oxoglutarate dehydrogenase-like							114	87	96					10																	50948877		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50948877C>G	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2019G>C	10.37:g.50948877C>G						OGDHL_ENST00000432695.1_Silent_p.R464R|OGDHL_ENST00000419399.1_Silent_p.R616R	p.R673R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			16	2104	-			673					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.2019G>C	CCDS7234.1																																																																																				0.637	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	46	0	0	0	1	0	4	46					G	50948877	C	G	50948877	2	3	153	1	0	0	0	0	0	0	0	1	10840	726	26	5		5	OGDHL	10	50948877	Silent	SNP	C	TCGA-WB-A815-01A-11D-A35I-08	38877871	50948877	84585870	18	2725										
LOXL4	84171	broad.mit.edu	37	chr10	100015403	100015403	+	Frame_Shift_Del	DEL	G	G	-													0.04	1	1	0.466666666666667	1.75	0	1	1	0	gtgcaccggcccgtgcctctGgcactgctgcagggccagct							TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr10:100015403delG	ENST00000260702.3	-	10	1672	c.1522delC	c.(1522-1524)cagfs	p.Q508fs	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	508	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCGTGCCTCTGGCACTGCTGC	0.667																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1522-1524)agfs		lysyl oxidase-like 4							56	56	56					10																	100015403		2203	4300	6503	SO:0001589	frameshift_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100015403delG	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1522delC	10.37:g.100015403delG	ENSP00000260702:p.Gln508fs					RP11-34A14.3_ENST00000433374.1_RNA	p.Q508fs	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	10	1672	-		Colorectal(252;0.234)	508			SRCR 4.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Frame_Shift_Del	DEL	ENST00000260702.3	37	c.1522delC	CCDS7473.1																																																																																				0.667	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		15	48						15	48	---	---	---	---	-	100015403	G	-	100015403	7	5	153	1	0	1	0	1	0	0	0	0	8902	1357	47	0	772	0	LOXL4	10	100015403	Frame_Shift_Del	DEL	G	TCGA-WB-A815-01A-11D-A35I-08	49066526	100015403	35519344	19	2726										
RRAS2	22800	broad.mit.edu	37	chr11	14317330	14317330	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	ttactatctagccgggctgcTctgtcatctatcacacactg	7	13	5	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr11:14317330T>A	ENST00000256196.4	-	2	493	c.180A>T	c.(178-180)agA>agT	p.R60S	RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.R66S|RRAS2_ENST00000414023.2_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	60					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GCCGGGCTGCTCTGTCATCTA	0.308																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(196-198)agA>agT		related RAS viral (r-ras) oncogene homolog 2							130	135	133					11																	14317330		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14317330T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.180A>T	11.37:g.14317330T>A	ENSP00000256196:p.Arg60Ser					RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.R25S|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.R60S	p.R66S	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	2	511	-			60					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.198A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264293	0.39995	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.82	2.45	0.29901	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	N	0.13140	0.3	0.53688	D	0.999979	B;B	0.24618	0.093;0.107	B;B	0.30572	0.117;0.045	T	0.50074	-0.8870	10	0.59425	D	0.04	.	3.1341	0.06434	0.1786:0.3291:0.0:0.4923	.	66;60	B7Z5Z2;P62070	.;RRAS2_HUMAN	S	25;66;60;41	ENSP00000437547:R25S;ENSP00000441722:R66S;ENSP00000256196:R60S;ENSP00000435453:R41S	ENSP00000256196:R60S	R	-	3	2	RRAS2	14273906	1.000000	0.71417	0.988000	0.46212	0.754000	0.42855	1.623000	0.37008	0.279000	0.22186	0.260000	0.18958	AGA		0.308	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		70	34	0	0	0	1	0	70	34					A	14317330	T	A	14317330	3	1	153	1	0	0	0	0	1	0	0	0	13677	1548	54	5	454	5	RRAS2	11	14317330	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		14317330	120689186	20	2727										
RAD51AP1	10635	broad.mit.edu	37	chr12	4665596	4665596	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	aaaaggtttctctgtcttcaGataccactaggaaaccatta	6	9	3	1			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr12:4665596G>C	ENST00000352618.4	+	8	849	c.799G>C	c.(799-801)Gat>Cat	p.D267H	RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.D284H	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCTGTCTTCAGATACCACTAG	0.423																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(850-852)Gat>Cat		RAD51 associated protein 1							90	88	88					12																	4665596		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4665596G>C	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.799G>C	12.37:g.4665596G>C	ENSP00000309479:p.Asp267His					RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D149H|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D267H	p.D284H	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		9	900	+			284						Missense_Mutation	SNP	ENST00000352618.4	37	c.850G>C	CCDS8529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.04|12.04	1.819569|1.819569	0.32145|0.32145	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.50548	.|1.49;0.74;0.74	4.51|4.51	3.59|3.59	0.41128|0.41128	.|.	.|0.863828	.|0.10057	.|N	.|0.721434	.|T	.|0.45155	.|0.1328	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;P;P;P	.|0.53151	.|0.958;0.699;0.699;0.846	.|P;B;B;P	.|0.51135	.|0.66;0.195;0.195;0.465	.|T	.|0.28170	.|-1.0052	.|10	.|0.66056	.|D	.|0.02	.|-3.3303	8.5551|8.5551	0.33476|0.33476	0.1077:0.0:0.8923:0.0|0.1077:0.0:0.8923:0.0	.|.	.|149;284;284;267	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	.|H	-1|149;284;267	.|ENSP00000439960:D149H;ENSP00000228843:D284H;ENSP00000309479:D267H	.|ENSP00000228843:D284H	.|D	+|+	.|1	.|0	RAD51AP1|RAD51AP1	4535857|4535857	0.890000|0.890000	0.30428|0.30428	0.509000|0.509000	0.27700|0.27700	0.694000|0.694000	0.40290|0.40290	1.353000|1.353000	0.34045|0.34045	2.340000|2.340000	0.79590|0.79590	0.591000|0.591000	0.81541|0.81541	.|GAT		0.423	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		22	52	0	0	0	1	0	22	52					C	4665596	G	C	4665596	3	2	153	1	0	0	0	0	1	0	0	0	12986	942	33	5	884	5	RAD51AP1	12	4665596	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		4665596	129186299	21	2728										
PIK3R5	23533	broad.mit.edu	37	chr17	8789897	8789897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	gggttggggagccctccaggGcctgggcttcagccttcagg	17	12	2	0			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr17:8789897G>A	ENST00000447110.1	-	13	2055	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	644					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCCCTCCAGGGCCTGGGCTTC	0.602																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1930-1932)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 5							54	62	59					17																	8789897		2202	4300	6502	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8789897G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1931C>T	17.37:g.8789897G>A	ENSP00000392812:p.Ala644Val					PIK3R5_ENST00000581552.1_Missense_Mutation_p.A644V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A643V	p.A644V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2055	-			644					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1931C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512809	0.27123	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78364	-1.17	4.25	3.26	0.37387	.	0.476905	0.23985	N	0.042633	T	0.57666	0.2069	N	0.08118	0	0.25002	N	0.991463	B	0.24317	0.101	B	0.20955	0.032	T	0.45920	-0.9228	10	0.27082	T	0.32	-15.092	12.9449	0.58367	0.0:0.0:0.8362:0.1638	.	644	Q8WYR1	PI3R5_HUMAN	V	644	ENSP00000392812:A644V	ENSP00000269300:A644V	A	-	2	0	PIK3R5	8730622	0.762000	0.28451	0.815000	0.32552	0.411000	0.31082	1.684000	0.37649	0.974000	0.38366	0.313000	0.20887	GCC		0.602	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		19	23	0	0	0	1	0	19	23					A	8789897	G	A	8789897	3	1	153	1	0	0	0	0	1	0	0	0	11922	1203	42	3	739	3	PIK3R5	17	8789897	Missense_Mutation	SNP	G	TCGA-WB-A815-01A-11D-A35I-08		8789897	72405313	22	2729										
CEP192	55125	broad.mit.edu	37	chr18	13049394	13049394	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	aactcctcaaattcagttacAaatagagagaataacagtgc	6	8	2	2			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr18:13049394A>G	ENST00000325971.8	+	14	2409	c.816A>G	c.(814-816)acA>acG	p.T272T	CEP192_ENST00000430049.2_Silent_p.T393T|CEP192_ENST00000506447.1_Silent_p.T868T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	272					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTCAGTTACAAATAGAGAGA	0.363																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2602-2604)acA>acG		centrosomal protein 192kDa							86	80	82					18																	13049394		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13049394A>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.816A>G	18.37:g.13049394A>G						CEP192_ENST00000325971.8_Silent_p.T272T|CEP192_ENST00000430049.2_Silent_p.T393T	p.T868T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			16	2684	+			463					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.2604A>G																																																																																					0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		14	45	0	0	0	1	0	14	45					G	13049394	A	G	13049394	2	3	153	1	0	0	0	0	0	0	0	1	3251	117	5	4		4	CEP192	18	13049394	Silent	SNP	A	TCGA-WB-A815-01A-11D-A35I-08		13049394	65027854	23	2730										
DYM	54808	broad.mit.edu	37	chr18	46858298	46858298	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	gactgctgagggaaaacatgGgcccctggaggaggtggctt	17	8	0	1			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr18:46858298G>T	ENST00000269445.6	-	8	1156	c.699C>A	c.(697-699)gcC>gcA	p.A233A	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.A78A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	233					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGAAAACATGGGCCCCTGGAG	0.403																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(697-699)gcC>gcA		dymeclin							95	101	99					18																	46858298		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46858298G>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.699C>A	18.37:g.46858298G>T						DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.A78A	p.A233A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			8	1156	-			233					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.699C>A	CCDS11937.1																																																																																				0.403	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		3	45	1	0	0.00024832	1	0.00026251	3	45					T	46858298	G	T	46858298	2	4	153	1	0	0	0	0	0	0	0	1	4840	1219	43	5		5	DYM	18	46858298	Silent	SNP	G	TCGA-WB-A815-01A-11D-A35I-08	33808904	46858298	31218950	24	2731										
PIGP	51227	broad.mit.edu	37	chr21	38444872	38444872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.466666666666667	1.75	0	1	1	0	cacaatcagcgccagcgatgTgctccgtggcaccattgatc	10	14	1	1			TCGA-WB-A815-01A-11D-A35I-08	TCGA-WB-A815-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db4e906f-677c-4446-8bcd-b7d03f90a56a	b2a3bd0c-6744-4386-9c3a-3d414d4c521a	g.chr21:38444872T>G	ENST00000464265.1	-	1	239	c.16A>C	c.(16-18)Aca>Cca	p.T6P	PIGP_ENST00000360525.4_Intron|TTC3_ENST00000355666.1_5'Flank|TTC3_ENST00000540756.1_5'Flank|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|TTC3_ENST00000399010.1_5'Flank|PIGP_ENST00000399102.1_Intron|PIGP_ENST00000329667.3_5'Flank	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	6					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GCCAGCGATGTGCTCCGTGGC	0.607																																						ENST00000464265.1																			0				kidney(1)|urinary_tract(1)	2						c.(16-18)Aca>Cca		phosphatidylinositol glycan anchor biosynthesis, class P							143	143	143					21																	38444872		2203	4300	6503	SO:0001583	missense	51227				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr21:38444872T>G	AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	3046	protein-coding gene	gene with protein product	"phosphatidylinositol-n-acetylglucosaminyltranferase subunit"	605938	"Down syndrome critical region gene 5", "phosphatidylinositol glycan, class P"	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.16A>C	21.37:g.38444872T>G	ENSP00000420037:p.Thr6Pro					PIGP_ENST00000399098.1_Intron|PIGP_ENST00000360525.3_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399102.1_Intron	p.T6P	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN			1	239	-		Myeloproliferative disorder(46;0.0412)	6					B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Missense_Mutation	SNP	ENST00000464265.1	37	c.16A>C	CCDS13649.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826959	0.32329	.	.	ENSG00000185808	ENST00000464265	T	0.23754	1.89	4.31	-6.01	0.02199	.	3.218240	0.00901	N	0.002353	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	0.999994	B	0.16603	0.018	B	0.13407	0.009	T	0.33624	-0.9861	10	0.66056	D	0.02	12.9914	5.9864	0.19436	0.2752:0.5565:0.0:0.1682	.	6	P57054	PIGP_HUMAN	P	6	ENSP00000420037:T6P	ENSP00000420037:T6P	T	-	1	0	PIGP	37366742	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.062000	0.01390	-0.756000	0.04703	-0.468000	0.05107	ACA		0.607	PIGP-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194769.2	NM_153681		49	36	0	0	0	1	0	49	36					G	38444872	T	G	38444872	3	3	153	1	0	0	0	0	1	0	0	0	11895	1696	59	5	476	5	PIGP	21	38444872	Missense_Mutation	SNP	T	TCGA-WB-A815-01A-11D-A35I-08		38444872	9685023	25	2732										
LRP8	7804	broad.mit.edu	37	chr1	53728167	53728167	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgtctgacaccagtgtttgCcggtccacaccgttgagccc	10	14	1	2			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:53728167C>T	ENST00000306052.6	-	11	1826	c.1725G>A	c.(1723-1725)cgG>cgA	p.R575R	LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000347547.2_Silent_p.R405R|LRP8_ENST00000465675.1_Silent_p.R128R|LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	575					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCAGTGTTTGCCGGTCCACAC	0.512																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1723-1725)cgG>cgA		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							223	219	220					1																	53728167		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728167C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1725G>A	1.37:g.53728167C>T						LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Silent_p.R128R|LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000347547.2_Silent_p.R405R	p.R575R	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1826	-			575					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.1725G>A	CCDS578.1																																																																																				0.512	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		4	145	0	0	0	1	0	4	145					T	53728167	C	T	53728167	2	4	154	1	0	0	0	0	0	0	0	1	8963	726	26	3		3	LRP8	1	53728167	Silent	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		53728167	195522454	1	2733										
CDC73	79577	broad.mit.edu	37	chr1	193219826	193219826	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtacatggtaaagcataaatCgcacttgagattctgaatta	8	6	1	2			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:193219826C>A	ENST00000367435.3	+	17	1764	c.1580C>A	c.(1579-1581)tCg>tAg	p.S527*	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	527	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAGCATAAATCGCACTTGAGA	0.294																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(1579-1581)tCg>tAg		cell division cycle 73							69	70	70					1																	193219826		2201	4297	6498	SO:0001587	stop_gained	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193219826C>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1580C>A	1.37:g.193219826C>A	ENSP00000356405:p.Ser527*					CDC73_ENST00000477868.1_3'UTR	p.S527*	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			17	1764	+			527					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Nonsense_Mutation	SNP	ENST00000367435.3	37	c.1580C>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	C	37	6.288108	0.97444	.	.	ENSG00000134371	ENST00000367435	.	.	.	6.01	6.01	0.97437	.	0.058313	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-12.8098	20.5211	0.99222	0.0:1.0:0.0:0.0	.	.	.	.	X	527	.	ENSP00000356405:S527X	S	+	2	0	CDC73	191486449	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.958000	0.76025	2.861000	0.98227	0.650000	0.86243	TCG		0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		4	40	1	0	0.014758	1	0.014758	4	40					A	193219826	C	A	193219826	4	1	154	1	0	0	0	0	0	1	0	0	3085	893	31	5	1646	5	CDC73	1	193219826	Nonsense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	139491659	193219826	56030795	2	2734										
SHISA4	149345	broad.mit.edu	37	chr1	201860531	201860531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccttctcccccatctaggcCaggagattccaatgacaggc	8	15	2	2			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr1:201860531C>G	ENST00000362011.6	+	4	669	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	RP11-307B6.3_ENST00000414927.1_RNA|SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	128						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						CCATCTAGGCCAGGAGATTCC	0.592																																						ENST00000362011.6																			0				kidney(1)|lung(4)	5						c.(382-384)Cag>Gag		shisa family member 4							106	105	105					1																	201860531		2203	4300	6503	SO:0001583	missense	149345					integral to membrane		g.chr1:201860531C>G	AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"Shisa homologs"	27139	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 40", "transmembrane protein 58", "shisa homolog 4 (Xenopus laevis)"	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.382C>G	1.37:g.201860531C>G	ENSP00000355064:p.Gln128Glu					SHISA4_ENST00000464117.1_3'UTR	p.Q128E	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN			4	669	+			128					B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	ENST00000362011.6	37	c.382C>G	CCDS1416.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244594	0.59103	.	.	ENSG00000198892	ENST00000362011	T	0.42900	0.96	5.17	5.17	0.71159	.	0.131328	0.52532	D	0.000079	T	0.54759	0.1878	M	0.62723	1.935	0.58432	D	0.999992	D	0.53312	0.959	D	0.64687	0.928	T	0.50750	-0.8791	10	0.07175	T	0.84	0.0073	14.1503	0.65378	0.0:1.0:0.0:0.0	.	128	Q96DD7	SHSA4_HUMAN	E	128	ENSP00000355064:Q128E	ENSP00000355064:Q128E	Q	+	1	0	SHISA4	200127154	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.940000	0.49003	2.406000	0.81754	0.561000	0.74099	CAG		0.592	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		7	57	0	0	0	1	0	7	57					G	201860531	C	G	201860531	3	3	154	1	0	0	0	0	1	0	0	0	14282	595	21	5	396	5	SHISA4	1	201860531	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	8640705	201860531	47390090	3	2735										
TRAK2	66008	broad.mit.edu	37	chr2	202272251	202272251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagtgtctacttttagcctaTactgtggtagttgttcttct	9	7	3	0			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr2:202272251T>A	ENST00000332624.3	-	3	589	c.161A>T	c.(160-162)tAt>tTt	p.Y54F	TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	54	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TTTTAGCCTATACTGTGGTAG	0.448																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(160-162)tAt>tTt		trafficking protein, kinesin binding 2							126	115	119					2																	202272251		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202272251T>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.161A>T	2.37:g.202272251T>A	ENSP00000328875:p.Tyr54Phe					TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F	p.Y54F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			3	589	-			54					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.161A>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650299	0.87958	.	.	ENSG00000115993	ENST00000332624;ENST00000430254	T;T	0.18502	2.21;2.21	4.8	4.8	0.61643	.	0.275870	0.25929	N	0.027394	T	0.38026	0.1025	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.983;0.989	T	0.18147	-1.0346	10	0.87932	D	0	.	14.4984	0.67704	0.0:0.0:0.0:1.0	.	54;54	E7EV21;O60296	.;TRAK2_HUMAN	F	54	ENSP00000328875:Y54F;ENSP00000409333:Y54F	ENSP00000328875:Y54F	Y	-	2	0	TRAK2	201980496	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.147000	0.58078	2.004000	0.58718	0.460000	0.39030	TAT		0.448	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		18	46	0	0	0	1	0	18	46					A	202272251	T	A	202272251	3	1	154	1	0	0	0	0	1	0	0	0	16447	1406	49	5	2639	5	TRAK2	2	202272251	Missense_Mutation	SNP	T	TCGA-WB-A816-01A-11D-A35I-08		202272251	40927122	4	2736										
GDAP1	54332	broad.mit.edu	37	chr8	75263599	75263599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaatgagccttggtttatgCgtttgaactcaactggagaa	10	7	1	3			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr8:75263599C>T	ENST00000220822.7	+	2	288	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	CTD-2320G14.2_ENST00000521872.1_RNA|GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	70	GST N-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R70C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TTGGTTTATGCGTTTGAACTC	0.453																																						ENST00000220822.7																			1	Substitution - Missense(1)	p.R70C(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(208-210)Cgt>Tgt		ganglioside induced differentiation associated protein 1							343	291	309					8																	75263599		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75263599C>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"Charcot-Marie-Tooth neuropathy 4A"	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.208C>T	8.37:g.75263599C>T	ENSP00000220822:p.Arg70Cys					GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C	p.R70C	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		2	288	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	70			GST N-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.208C>T	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407363	0.83230	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	T;T	0.48201	1.66;0.82	5.17	5.17	0.71159	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.119635	0.64402	D	0.000015	T	0.77811	0.4186	M	0.93420	3.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.83650	0.0155	10	0.72032	D	0.01	-26.7646	18.8518	0.92235	0.0:1.0:0.0:0.0	.	70	Q8TB36	GDAP1_HUMAN	C	70;2	ENSP00000220822:R70C;ENSP00000417006:R2C	ENSP00000220822:R70C	R	+	1	0	GDAP1	75426154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.570000	0.53834	2.678000	0.91216	0.655000	0.94253	CGT		0.453	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		4	180	0	0	0	1	0	4	180					T	75263599	C	T	75263599	3	4	154	1	0	0	0	0	1	0	0	0	6307	768	27	1	214	1	GDAP1	8	75263599	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		75263599	71100423	5	2737										
YME1L1	10730	broad.mit.edu	37	chr10	27409416	27409416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttcaaaatttctgttcgaccTtttacatctggccttggaac	6	10	3	0	rs370570592		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr10:27409416T>C	ENST00000326799.3	-	14	1678	c.1530A>G	c.(1528-1530)aaA>aaG	p.K510K	YME1L1_ENST00000375972.3_Silent_p.K420K|YME1L1_ENST00000376016.3_Silent_p.K453K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	510					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTGTTCGACCTTTTACATCTG	0.313																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1528-1530)aaA>aaG		YME1-like 1 ATPase		T	,	1,4405	2.1+/-5.4	0,1,2202	98	95	96		1359,1530	4.6	0.9	10		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	YME1L1	NM_014263.2,NM_139312.1	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	453/717,510/774	27409416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27409416T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1530A>G	10.37:g.27409416T>C						YME1L1_ENST00000376016.3_Silent_p.K453K|YME1L1_ENST00000375972.3_Silent_p.K420K	p.K510K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			14	1678	-			510					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1530A>G	CCDS7152.1																																																																																				0.313	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	58	0	0	0	1	0	3	58					C	27409416	T	C	27409416	2	2	154	1	0	0	0	0	0	0	0	1	17484	1606	56	4		4	YME1L1	10	27409416	Silent	SNP	T	TCGA-WB-A816-01A-11D-A35I-08		27409416	108125331	6	2738										
SORBS1	10580	broad.mit.edu	37	chr10	97141496	97141496	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctgatattcgtaaatgctCttgggctctgcacgatattt	10	8	2	1			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr10:97141496C>A	ENST00000361941.3	-	16	1625	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N	SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N|SORBS1_ENST00000371247.2_Missense_Mutation_p.K533N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N|SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGTAAATGCTCTTGGGCTCTG	0.398																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1597-1599)aaG>aaT		sorbin and SH3 domain containing 1							220	211	214					10																	97141496		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97141496C>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1599G>T	10.37:g.97141496C>A	ENSP00000355136:p.Lys533Asn					SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N|SORBS1_ENST00000361941.3_Missense_Mutation_p.K533N|SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N	p.K533N			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	18	1788	-		Colorectal(252;0.0429)	533						Missense_Mutation	SNP	ENST00000361941.3	37	c.1599G>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195752	0.58126	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.98	4.86	0.63082	.	0.159634	0.29699	N	0.011431	T	0.52041	0.1710	L	0.34521	1.04	0.43230	D	0.995122	D;D;D;P;P;B;D;D;D;D;D;P;P	0.76494	0.999;0.993;0.992;0.941;0.889;0.403;0.987;0.986;0.986;0.996;0.974;0.954;0.611	P;P;P;P;P;P;P;D;P;D;P;P;B	0.63283	0.864;0.866;0.882;0.811;0.705;0.557;0.888;0.913;0.765;0.912;0.839;0.81;0.103	T	0.46762	-0.9168	10	0.45353	T	0.12	-7.8724	9.3148	0.37928	0.0:0.2169:0.0:0.7831	.	685;332;487;455;364;323;332;418;533;555;401;503;111	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	N	418;364;455;533;487;555;503;418;401;533;555;323;503;332	ENSP00000360291:K418N;ENSP00000302556:K364N;ENSP00000360295:K455N;ENSP00000360293:K533N;ENSP00000360271:K487N;ENSP00000360292:K555N;ENSP00000377521:K503N;ENSP00000343998:K418N;ENSP00000277985:K401N;ENSP00000355136:K533N;ENSP00000277982:K555N;ENSP00000360285:K323N;ENSP00000277984:K503N;ENSP00000360283:K332N	ENSP00000277982:K555N	K	-	3	2	SORBS1	97131486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.928000	0.40104	0.529000	0.28599	-0.332000	0.08345	AAG		0.398	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			13	54	1	0	2.27111e-07	1	2.4686e-07	13	54					A	97141496	C	A	97141496	3	1	154	1	0	0	0	0	1	0	0	0	14927	912	32	5	2407	5	SORBS1	10	97141496	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	69732080	97141496	38393251	7	2739										
ST14	6768	broad.mit.edu	37	chr11	130068267	130068267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagcccctcttctgggtctgCgacagtgtgaacgactgcgg	13	12	3	1			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr11:130068267C>T	ENST00000278742.5	+	13	1942	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	508	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCTGGGTCTGCGACAGTGTGA	0.672																																						ENST00000278742.5																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1522-1524)tgC>tgT		suppression of tumorigenicity 14 (colon carcinoma)	Urokinase(DB00013)						89	89	89					11																	130068267		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130068267C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1524C>T	11.37:g.130068267C>T							p.C508C	NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	13	1942	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	508			LDL-receptor class A 2.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1524C>T	CCDS8487.1																																																																																				0.672	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			4	125	0	0	0	1	0	4	125					T	130068267	C	T	130068267	2	4	154	1	0	0	0	0	0	0	0	1	15210	776	27	1		1	ST14	11	130068267	Silent	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		130068267	4938249	8	2740										
CTDSP2	10106	broad.mit.edu	37	chr12	58217721	58217721	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaatatgtaagaagcaggcGagttgtccaggatgagggtc	16	5	0	2			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr12:58217721G>C	ENST00000398073.2	-	7	959	c.656C>G	c.(655-657)tCg>tGg	p.S219W	MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W|CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	219	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					AGAAGCAGGCGAGTTGTCCAG	0.582																																						ENST00000398073.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(655-657)tCg>tGg		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							43	46	45					12																	58217721		2039	4190	6229	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58217721G>C	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	17077	protein-coding gene	gene with protein product	"conserved gene amplified in osteosarcoma", "nuclear LIM interactor-interacting factor 2", "NLI-interacting factor 2", "small CTD phosphatase 2"	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.656C>G	12.37:g.58217721G>C	ENSP00000381148:p.Ser219Trp					CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W|CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W	p.S219W	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			7	959	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		219			FCP1 homology.		A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.656C>G	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473614	0.84640	.	.	ENSG00000175215	ENST00000398073;ENST00000548823;ENST00000549039;ENST00000547701	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.43	5.43	0.79202	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	H	0.99726	4.73	0.80722	D	1	P;P;D	0.89917	0.955;0.863;1.0	P;P;D	0.73708	0.661;0.793;0.981	D	0.83604	0.0130	10	0.87932	D	0	-2.5271	18.1553	0.89689	0.0:0.0:1.0:0.0	.	93;46;219	B4DH48;F8W1I1;O14595	.;.;CTDS2_HUMAN	W	219;46;73;67	ENSP00000381148:S219W;ENSP00000447046:S46W;ENSP00000448386:S73W;ENSP00000446705:S67W	ENSP00000381148:S219W	S	-	2	0	CTDSP2	56503988	1.000000	0.71417	0.971000	0.41717	0.594000	0.36715	9.575000	0.98187	2.822000	0.97130	0.563000	0.77884	TCG		0.582	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		6	18	0	0	0	1	0	6	18					C	58217721	G	C	58217721	3	2	154	1	0	0	0	0	1	0	0	0	4004	1059	37	5	167	5	CTDSP2	12	58217721	Missense_Mutation	SNP	G	TCGA-WB-A816-01A-11D-A35I-08		58217721	75634174	9	2741										
MYO1H	283446	broad.mit.edu	37	chr12	109844593	109844593	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggatttcttttacatgcaGctcctgggggtccacccatc	9	13	1	0			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr12:109844593G>A	ENST00000431443.2	+	8	915		c.e8-1		MYO1H_ENST00000310903.5_Splice_Site|MYO1H_ENST00000542883.1_Splice_Site	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH							myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTACATGCAGCTCCTGGGGG	0.433																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.e9-1		myosin IH							103	89	93					12																	109844593		1859	4104	5963	SO:0001630	splice_region_variant	283446					myosin complex	motor activity	g.chr12:109844593G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.916-1G>A	12.37:g.109844593G>A						MYO1H_ENST00000542883.1_Splice_Site|MYO1H_ENST00000431443.2_Splice_Site				B4DNW6	B4DNW6_HUMAN			9	1021	+								F5H3C6	Splice_Site	SNP	ENST00000431443.2	37			.	.	.	.	.	.	.	.	.	.	G	18.05	3.538034	0.65085	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.229	0.86979	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1H	108328976	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.872000	0.92352	2.313000	0.78055	0.650000	0.86243	.		0.433	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	Intron	7	40	0	0	0	1	0	7	40					A	109844593	G	A	109844593	5	1	154	1	0	0	0	0	0	0	1	0	10075	985	34	3	945	3	MYO1H	12	109844593	Splice_Site	SNP	G	TCGA-WB-A816-01A-11D-A35I-08	51626872	109844593	24007302	10	2742										
OXA1L	5018	broad.mit.edu	37	chr14	23235834	23235834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaattctggcttcatgcccGcctccaaaagtgcttcctct	6	15	3	0			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr14:23235834G>A	ENST00000285848.5	+	1	104	c.104G>A	c.(103-105)cGc>cAc	p.R35H	OXA1L_ENST00000604262.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTTCATGCCCGCCTCCAAAAG	0.522																																						ENST00000285848.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(103-105)cGc>cAc		oxidase (cytochrome c) assembly 1-like							107	117	114					14																	23235834		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235834G>A		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.104G>A	14.37:g.23235834G>A	ENSP00000285848:p.Arg35His						p.R35H	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	104	+	all_cancers(95;8.44e-05)		0					B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	c.104G>A	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156987	0.38119	.	.	ENSG00000155463	ENST00000285848	T	0.32023	1.47	5.32	-4.41	0.03590	.	1.138140	0.06846	N	0.796654	T	0.14960	0.0361	N	0.08118	0	0.37434	D	0.914168	B	0.02656	0.0	B	0.04013	0.001	T	0.05099	-1.0906	10	0.87932	D	0	-0.0736	8.1573	0.31176	0.3456:0.1428:0.5116:0.0	.	35	Q2M1J6	.	H	35	ENSP00000285848:R35H	ENSP00000285848:R35H	R	+	2	0	OXA1L	22305674	0.001000	0.12720	0.358000	0.25811	0.169000	0.22640	-0.658000	0.05329	-1.068000	0.03156	-0.302000	0.09304	CGC		0.522	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		4	137	0	0	0	1	0	4	137					A	23235834	G	A	23235834	3	1	154	1	0	0	0	0	1	0	0	0	11328	1087	38	1	106	1	OXA1L	14	23235834	Missense_Mutation	SNP	G	TCGA-WB-A816-01A-11D-A35I-08		23235834	84113706	11	2743										
GPR135	64582	broad.mit.edu	37	chr14	59930963	59930963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggacggtggtggccgtgcGcacctcgctgaagaagcgca	17	11	0	2			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr14:59930963G>A	ENST00000395116.1	-	1	1097	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GTGGCCGTGCGCACCTCGCTG	0.672																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(982-984)Cgc>Tgc		G protein-coupled receptor 135							22	23	23					14																	59930963		2195	4294	6489	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59930963G>A	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"GPCR / Class A : Orphans"	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.982C>T	14.37:g.59930963G>A	ENSP00000378548:p.Arg328Cys						p.R328C	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	1097	-			328					Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.982C>T	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	g	19.75	3.885777	0.72410	.	.	ENSG00000181619	ENST00000395116	T	0.45276	0.9	4.31	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.66436	0.2789	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71586	-0.4548	10	0.87932	D	0	-13.2337	11.4278	0.50020	0.0:0.0:0.6723:0.3277	.	328	Q8IZ08	GP135_HUMAN	C	328	ENSP00000378548:R328C	ENSP00000378548:R328C	R	-	1	0	GPR135	59000716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.566000	0.45948	0.984000	0.38629	0.558000	0.71614	CGC		0.672	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		3	31	0	0	0	1	0	3	31					A	59930963	G	A	59930963	3	1	154	1	0	0	0	0	1	0	0	0	6644	1087	38	1	506	1	GPR135	14	59930963	Missense_Mutation	SNP	G	TCGA-WB-A816-01A-11D-A35I-08	36695129	59930963	47418577	12	2744										
COG7	91949	broad.mit.edu	37	chr16	23456408	23456408	+	Silent	SNP	G	G	A													0	0	1	0	0	0	1	1	0	tcaatatcggcgctcaacgtGctccacttatctgcttcctg							TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:23456408G>A	ENST00000307149.5	-	3	581	c.396C>T	c.(394-396)agC>agT	p.S132S	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	132					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CGCTCAACGTGCTCCACTTAT	0.448																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(394-396)agC>agT		component of oligomeric golgi complex 7							191	171	177					16																	23456408		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23456408G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.396C>T	16.37:g.23456408G>A							p.S132S	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	581	-			132					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.396C>T	CCDS10610.1																																																																																				0.448	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			29	92	0	0	0	1	0	29	92					A	23456408	G	A	23456408	2	1	154	1	0	0	0	0	0	0	0	1	3663	1310	46	3		3	COG7	16	23456408	Silent	SNP	G	TCGA-WB-A816-01A-11D-A35I-08		23456408	66898345	13	2745	18	2								
COG7	91949	broad.mit.edu	37	chr16	23456409	23456409	+	Missense_Mutation	SNP	C	C	T													0	0	1	0	0	0	1	1	0	caatatcggcgctcaacgtgCtccacttatctgcttcctga							TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:23456409C>T	ENST00000307149.5	-	3	580	c.395G>A	c.(394-396)aGc>aAc	p.S132N	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	132					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTCAACGTGCTCCACTTATC	0.443																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(394-396)aGc>aAc		component of oligomeric golgi complex 7							191	170	177					16																	23456409		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23456409C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.395G>A	16.37:g.23456409C>T	ENSP00000305442:p.Ser132Asn						p.S132N	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	3	580	-			132					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.395G>A	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446821	0.84101	.	.	ENSG00000168434	ENST00000307149	T	0.50001	0.76	5.55	5.55	0.83447	.	0.111464	0.85682	D	0.000000	T	0.60418	0.2267	L	0.61218	1.895	0.50467	D	0.999873	D	0.59767	0.986	P	0.57846	0.828	T	0.55933	-0.8062	10	0.30078	T	0.28	-32.8161	15.6795	0.77357	0.0:0.863:0.137:0.0	.	132	P83436	COG7_HUMAN	N	132	ENSP00000305442:S132N	ENSP00000305442:S132N	S	-	2	0	COG7	23363910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.895000	0.63214	2.601000	0.87937	0.579000	0.79373	AGC		0.443	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			29	89	0	0	0	1	0	29	89					T	23456409	C	T	23456409	3	4	154	1	0	0	0	0	1	0	0	0	3663	797	28	3	1977	3	COG7	16	23456409	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	1	23456409	66898344	14	2746	18	2								
IRX6	79190	broad.mit.edu	37	chr16	55361281	55361281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaaccaggagcctattatcCctatgagcggactctggggc	11	12	1	1			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr16:55361281C>T	ENST00000290552.7	+	3	1709	c.377C>T	c.(376-378)cCc>cTc	p.P126L	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	126					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P126L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCTATTATCCCTATGAGCGG	0.512																																						ENST00000290552.7																			1	Substitution - Missense(1)	p.P126L(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(376-378)cCc>cTc		iroquois homeobox 6							74	73	73					16																	55361281		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361281C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.377C>T	16.37:g.55361281C>T	ENSP00000290552:p.Pro126Leu					IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.P126L	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			3	1709	+			126					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.377C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681088	0.88542	.	.	ENSG00000159387	ENST00000290552	D	0.92348	-3.02	5.55	5.55	0.83447	.	0.292989	0.38436	N	0.001691	D	0.93776	0.8010	M	0.85945	2.785	0.80722	D	1	P;P	0.50066	0.563;0.931	B;B	0.44224	0.265;0.444	D	0.94567	0.7767	10	0.72032	D	0.01	-4.3068	19.3061	0.94163	0.0:1.0:0.0:0.0	.	126;25	P78412;Q9BZI2	IRX6_HUMAN;.	L	126	ENSP00000290552:P126L	ENSP00000290552:P126L	P	+	2	0	IRX6	53918782	0.998000	0.40836	0.932000	0.37286	0.958000	0.62258	7.148000	0.77389	2.894000	0.99253	0.655000	0.94253	CCC		0.512	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		14	48	0	0	0	1	0	14	48					T	55361281	C	T	55361281	3	4	154	1	0	0	0	0	1	0	0	0	7848	623	22	3	387	3	IRX6	16	55361281	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08	31904872	55361281	34993472	15	2747										
SLC9A8	23315	broad.mit.edu	37	chr20	48491289	48491289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcgtgatgtcccactacacgCaccataacctctccccagtc	5	18	1	1			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chr20:48491289C>A	ENST00000361573.2	+	11	1048	c.1006C>A	c.(1006-1008)Cac>Aac	p.H336N	SLC9A8_ENST00000417961.1_Missense_Mutation_p.H352N|SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	336					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCACTACACGCACCATAACCT	0.557																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1054-1056)Cac>Aac		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8							310	216	247					20																	48491289		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48491289C>A	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1006C>A	20.37:g.48491289C>A	ENSP00000354966:p.His336Asn					SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.H336N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N	p.H352N	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		11	1264	+			336					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1054C>A	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132997	0.94517	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.64	5.64	0.86602	Cation/H+ exchanger (1);	0.046754	0.85682	D	0.000000	T	0.43678	0.1258	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.979	T	0.24905	-1.0147	10	0.72032	D	0.01	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	117;336	B4DIX7;Q9Y2E8	.;SL9A8_HUMAN	N	352;336;36;117	ENSP00000416418:H352N;ENSP00000354966:H336N;ENSP00000441615:H36N;ENSP00000441716:H117N	ENSP00000354966:H336N	H	+	1	0	SLC9A8	47924696	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	7.575000	0.82447	2.657000	0.90304	0.655000	0.94253	CAC		0.557	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		15	52	1	0	4.14922e-12	1	4.71502e-12	15	52					A	48491289	C	A	48491289	3	1	154	1	0	0	0	0	1	0	0	0	14720	710	25	5	1048	5	SLC9A8	20	48491289	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		48491289	14534231	16	2748										
ZNF182	7569	broad.mit.edu	37	chrX	47836774	47836774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgaaggttttcctacatgCagtacattcaaagggtttct	9	8	2	1			TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chrX:47836774C>T	ENST00000396965.1	-	7	1062	c.712G>A	c.(712-714)Gca>Aca	p.A238T	ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T|ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTCCTACATGCAGTACATTCA	0.418																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(712-714)Gca>Aca		zinc finger protein 182							79	76	77					X																	47836774		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836774C>T	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	13001	protein-coding gene	gene with protein product		314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.712G>A	X.37:g.47836774C>T	ENSP00000380165:p.Ala238Thr					ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T|ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T	p.A238T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	1062	-			238					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.712G>A	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012158	0.35511	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.07567	3.18;3.18;3.18	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07999	0.0200	N	0.01493	-0.835	0.25859	N	0.98384	P;P;B	0.47106	0.869;0.89;0.062	P;P;B	0.56343	0.796;0.707;0.113	T	0.44251	-0.9340	9	0.72032	D	0.01	.	13.3752	0.60734	0.0:1.0:0.0:0.0	.	218;219;238	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	T	219;238;238	ENSP00000366142:A219T;ENSP00000380165:A238T;ENSP00000306351:A238T	ENSP00000306351:A238T	A	-	1	0	ZNF182	47721718	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.043000	0.13971	2.110000	0.64415	0.594000	0.82650	GCA		0.418	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		11	101	0	0	0	1	0	11	101					T	47836774	C	T	47836774	3	4	154	1	0	0	0	0	1	0	0	0	17747	710	25	3	1211	3	ZNF182	23	47836774	Missense_Mutation	SNP	C	TCGA-WB-A816-01A-11D-A35I-08		47836774	107433786	17	2749										
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													0	0	1	0	0	0	1	1	0	cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-WB-A816-01A-11D-A35I-08	TCGA-WB-A816-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4003517b-1cc1-4c57-9c73-a7c176de0186	1f70da4e-abdb-47c0-a442-869d91605e68	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		3	4						3	4	---	---	---	---	-	50350713	TCC	-	50350711	7	5	154	1	0	1	0	1	0	0	0	0	14296	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-WB-A816-01A-11D-A35I-08	2513937	50350711	104919849	18	2750										
HMCN1	83872	broad.mit.edu	37	chr1	186008083	186008083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atgctggcatatataaatgcGtggccatcaactcagctgga	10	9	2	0	rs558576428		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr1:186008083G>A	ENST00000271588.4	+	38	6203	c.5974G>A	c.(5974-5976)Gtg>Atg	p.V1992M	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1992M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1992	Ig-like C2-type 17.				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						ATATAAATGCGTGGCCATCAA	0.438													G|||	1	0.000199681	8e-04	0	5008	,	,		15750	0		0	False		,,,				2504	0					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.(5974-5976)Gtg>Atg		hemicentin 1							109	101	104					1																	186008083		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008083G>A	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.5974G>A	1.37:g.186008083G>A	ENSP00000271588:p.Val1992Met					HMCN1_ENST00000367492.2_Missense_Mutation_p.V1992M	p.V1992M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			38	6203	+			1992			Ig-like C2-type 17.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5974G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084412	0.36758	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68765	-0.35;-0.35	5.85	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126219	0.52532	N	0.000064	T	0.62514	0.2434	M	0.70842	2.15	0.49687	D	0.999814	B	0.31611	0.331	B	0.29524	0.103	T	0.61978	-0.6951	10	0.42905	T	0.14	.	11.4211	0.49982	0.2008:0.0:0.7992:0.0	.	1992	Q96RW7	HMCN1_HUMAN	M	1992	ENSP00000271588:V1992M;ENSP00000356462:V1992M	ENSP00000271588:V1992M	V	+	1	0	HMCN1	184274706	1.000000	0.71417	0.999000	0.59377	0.536000	0.34869	2.296000	0.43584	0.831000	0.34780	-0.136000	0.14681	GTG		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	80	0	0	0	1	0	4	80					A	186008083	G	A	186008083	3	1	155	1	0	0	0	0	1	0	0	0	7220	1145	40	1	6124	1	HMCN1	1	186008083	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		186008083	63242538	1	2751										
PARD3B	117583	broad.mit.edu	37	chr2	205829978	205829978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgcttttgagacagaagtggCcgcccaactggccgcattta	11	11	0	2			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr2:205829978C>T	ENST00000406610.2	+	3	533	c.326C>T	c.(325-327)gCc>gTc	p.A109V	PARD3B_ENST00000358768.2_Missense_Mutation_p.A109V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A109V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A109V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A109V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	109					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACAGAAGTGGCCGCCCAACTG	0.468																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(325-327)gCc>gTc		par-3 family cell polarity regulator beta							76	79	78					2																	205829978		1847	4089	5936	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205829978C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.326C>T	2.37:g.205829978C>T	ENSP00000385848:p.Ala109Val					PARD3B_ENST00000349953.3_Missense_Mutation_p.A109V|PARD3B_ENST00000462231.1_Missense_Mutation_p.A109V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A109V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A109V	p.A109V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	3	533	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	109					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.326C>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397412	0.83120	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.8	5.8	0.92144	.	0.065695	0.64402	D	0.000015	T	0.59321	0.2185	L	0.39898	1.24	0.36538	D	0.871124	D;D;P;D;D	0.89917	0.999;1.0;0.87;0.983;0.991	D;D;P;P;P	0.83275	0.996;0.996;0.681;0.857;0.857	T	0.63373	-0.6652	10	0.59425	D	0.04	.	20.0522	0.97631	0.0:1.0:0.0:0.0	.	109;109;109;109;109	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	109	ENSP00000385848:A109V;ENSP00000351618:A109V;ENSP00000317261:A109V;ENSP00000340280:A109V	ENSP00000340280:A109V	A	+	2	0	PARD3B	205538223	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	5.359000	0.66074	2.737000	0.93849	0.563000	0.77884	GCC		0.468	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		4	56	0	0	0	1	0	4	56					T	205829978	C	T	205829978	3	4	155	1	0	0	0	0	1	0	0	0	11444	739	26	3	336	3	PARD3B	2	205829978	Missense_Mutation	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		205829978	37369395	2	2752										
DNER	92737	broad.mit.edu	37	chr2	230272009	230272009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcgctgtcacaggtggctccGttcagacagctgacgttagc	12	12	2	2	rs528523117	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr2:230272009G>A	ENST00000341772.4	-	10	1796	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	554	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGGTGGCTCCGTTCAGACAGC	0.517													G|||	2	0.000399361	8e-04	0	5008	,	,		19008	0.001		0	False		,,,				2504	0					ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1660-1662)aaC>aaT		delta/notch-like EGF repeat containing							137	120	126					2																	230272009		2203	4300	6503	SO:0001819	synonymous_variant	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272009G>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1662C>T	2.37:g.230272009G>A							p.N554N	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1796	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	554			EGF-like 9.|Follistatin-like.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.1662C>T	CCDS33390.1																																																																																				0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		22	57	0	0	0	1	0	22	57					A	230272009	G	A	230272009	2	1	155	1	0	0	0	0	0	0	0	1	4667	1136	40	1		1	DNER	2	230272009	Silent	SNP	G	TCGA-WB-A817-01A-11D-A35I-08	24442031	230272009	12927364	3	2753										
CACNA1D	776	broad.mit.edu	37	chr3	53757871	53757879	+	In_Frame_Del	DEL	TCCATCGCT	TCCATCGCT	-													0	0	1	0	NA	0	1	1	0	ccttattaaactccatgaagTccatcgcttcgctgttgctt					rs139269186		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr3:53757871_53757879delTCCATCGCT	ENST00000350061.5	+	14	2456_2464	c.1945_1953delTCCATCGCT	c.(1945-1953)tccatcgctdel	p.SIA649del	CACNA1D_ENST00000288139.4_In_Frame_Del_p.SIA669del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.SIA649del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	649					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCATGAAGTCCATCGCTTCGCTGTTGC	0.455																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2005-2013)del		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001651	inframe_deletion	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757871_53757879delTCCATCGCT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1945_1953delTCCATCGCT	3.37:g.53757871_53757879delTCCATCGCT	ENSP00000288133:p.Ser649_Ala651del					CACNA1D_ENST00000422281.2_In_Frame_Del_p.SIA649del|CACNA1D_ENST00000350061.5_In_Frame_Del_p.SIA649del	p.SIA669del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2123_2131	+			649					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	In_Frame_Del	DEL	ENST00000350061.5	37	c.2005_2013delTCCATCGCT	CCDS46848.1																																																																																				0.455	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		19	113						19	113	---	---	---	---	-	53757879	TCCATCGCT	-	53757871	7	5	155	1	0	1	0	1	0	0	0	0	2541	1667	58	0	2171	0	CACNA1D	3	53757871	In_Frame_Del	DEL	TCCATCGCT	TCGA-WB-A817-01A-11D-A35I-08		53757871	144264559	4	2754										
JARID2	3720	broad.mit.edu	37	chr6	15501192	15501192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctgattaatgagatgggcgGcatgcagcaagtgactgacc	14	8	0	4			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr6:15501192G>A	ENST00000341776.2	+	8	2244	c.2000G>A	c.(1999-2001)gGc>gAc	p.G667D	JARID2_ENST00000541660.1_Missense_Mutation_p.G629D|JARID2_ENST00000397311.3_Missense_Mutation_p.G495D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	667	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAGATGGGCGGCATGCAGCAA	0.562																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1999-2001)gGc>gAc		jumonji, AT rich interactive domain 2							102	107	105					6																	15501192		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501192G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2000G>A	6.37:g.15501192G>A	ENSP00000341280:p.Gly667Asp					JARID2_ENST00000397311.3_Missense_Mutation_p.G495D|JARID2_ENST00000541660.1_Missense_Mutation_p.G629D	p.G667D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			8	2244	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	667			ARID.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2000G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812503	0.90707	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87887	-2.31;-2.31;-2.31	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94181	0.7432	10	0.87932	D	0	-12.4643	18.621	0.91321	0.0:0.0:1.0:0.0	.	629;667	F5H590;Q92833	.;JARD2_HUMAN	D	667;495;629	ENSP00000341280:G667D;ENSP00000380478:G495D;ENSP00000444623:G629D	ENSP00000341280:G667D	G	+	2	0	JARID2	15609171	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.624000	0.98398	2.396000	0.81511	0.561000	0.74099	GGC		0.562	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		4	124	0	0	0	1	0	4	124					A	15501192	G	A	15501192	3	1	155	1	0	0	0	0	1	0	0	0	7945	1203	42	3	2030	3	JARID2	6	15501192	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		15501192	155613875	5	2755										
DGKB	1607	broad.mit.edu	37	chr7	14652983	14652983	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	NA	0	1	1	0	accgttctccttgttttccaCcacttttggggttcacaaaa							TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr7:14652983delC	ENST00000403951.2	-	16	1762	c.1343delG	c.(1342-1344)ggtfs	p.G449fs	DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	449	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGTTTTCCACCACTTTTGGG	0.318																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1342-1344)gtfs		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						42	42	42					7																	14652983		1814	4065	5879	SO:0001589	frameshift_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14652983delC	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1343delG	7.37:g.14652983delC	ENSP00000385780:p.Gly449fs					DGKB_ENST00000407950.1_Frame_Shift_Del_p.G441fs|DGKB_ENST00000406247.3_Frame_Shift_Del_p.G449fs|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Frame_Shift_Del_p.G449fs|DGKB_ENST00000444700.2_Frame_Shift_Del_p.G430fs|DGKB_ENST00000402815.1_Frame_Shift_Del_p.G448fs|DGKB_ENST00000399322.3_Frame_Shift_Del_p.G449fs	p.G449fs			Q9Y6T7	DGKB_HUMAN			16	1762	-			449			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Frame_Shift_Del	DEL	ENST00000403951.2	37	c.1343delG	CCDS47547.1																																																																																				0.318	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		2	4						2	4	---	---	---	---	-	14652983	C	-	14652983	7	5	155	1	0	1	0	1	0	0	0	0	4466	507	18	0	1130	0	DGKB	7	14652983	Frame_Shift_Del	DEL	C	TCGA-WB-A817-01A-11D-A35I-08		14652983	144485680	6	2756										
TTC17	55761	broad.mit.edu	37	chr11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cacagaacacatagattttgCcacccctatacagcagccag	6	14	0	2			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2809-2811)gCc>gTc		tetratricopeptide repeat domain 17							121	112	115					11																	43471655		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43471655C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2810C>T	11.37:g.43471655C>T	ENSP00000039989:p.Ala937Val						p.A937V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			20	2824	+			937					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2810C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470025	0.84533	.	.	ENSG00000052841	ENST00000039989	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.47716	1.5	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.12116	-1.0560	10	0.42905	T	0.14	-13.769	20.1392	0.98050	0.0:1.0:0.0:0.0	.	937	Q96AE7	TTC17_HUMAN	V	937	ENSP00000039989:A937V	ENSP00000039989:A937V	A	+	2	0	TTC17	43428231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.751000	0.94390	0.591000	0.81541	GCC		0.473	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		4	93	0	0	0	1	0	4	93					T	43471655	C	T	43471655	3	4	155	1	0	0	0	0	1	0	0	0	16681	739	26	3	2888	3	TTC17	11	43471655	Missense_Mutation	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		43471655	91534861	7	2757										
RNF17	56163	broad.mit.edu	37	chr13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaattccttctcatcttatgCggtatccagctcgagccata	6	12	2	0			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4612-4614)Cgg>Tgg		ring finger protein 17							79	82	81					13																	25451163		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25451163C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4612C>T	13.37:g.25451163C>T	ENSP00000255324:p.Arg1538Trp					RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	p.R1538W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	34	4664	+		Lung SC(185;0.0225)|Breast(139;0.077)	1538			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.4612C>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149514	0.57151	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.09911	2.93;2.93;2.93	5.66	2.7	0.31948	Tudor subgroup (1);Maternal tudor protein (1);	0.524360	0.17164	N	0.184547	T	0.15003	0.0362	L	0.29908	0.895	0.80722	D	1	D;D;B;D	0.76494	0.998;0.98;0.023;0.999	P;P;B;P	0.56916	0.663;0.72;0.004;0.809	T	0.03148	-1.1067	10	0.72032	D	0.01	-0.586	9.3923	0.38381	0.271:0.6531:0.0:0.0759	.	1534;548;1532;1538	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	W	1538;1496;548	ENSP00000255324:R1538W;ENSP00000371346:R1496W;ENSP00000344776:R548W	ENSP00000255324:R1538W	R	+	1	2	RNF17	24349163	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	1.157000	0.31724	1.384000	0.46424	0.555000	0.69702	CGG		0.403	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		4	72	0	0	0	1	0	4	72					T	25451163	C	T	25451163	3	4	155	1	0	0	0	0	1	0	0	0	13461	759	27	1	4746	1	RNF17	13	25451163	Missense_Mutation	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		25451163	89718715	8	2758										
AHNAK2	113146	broad.mit.edu	37	chr14	105409977	105409977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttggctcctggggcctcgacGtccacctccacgctgggcag	13	16	0	0	rs569298803	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													.|||	4	0.000798722	0.0023	0	5008	,	,		18962	0.001		0	False		,,,				2504	0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11809-11811)gaC>gaT		AHNAK nucleoprotein 2							151	165	160					14																	105409977		1980	4147	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409977G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11811C>T	14.37:g.105409977G>A						AHNAK2_ENST00000557457.1_Intron	p.D3937D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11930	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3937					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11811C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	289	0	0	0	1	0	6	289					A	105409977	G	A	105409977	2	1	155	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105409977	Silent	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		105409977	1939563	9	2759										
MGA	23269	broad.mit.edu	37	chr15	42035001	42035001	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atactactgctgtgacacctAtgactgctatttctgacgtg	8	10	1	3			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr15:42035001A>G	ENST00000570161.1	+	14	4843	c.4843A>G	c.(4843-4845)Atg>Gtg	p.M1615V	MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.M1615V|MGA_ENST00000389936.4_Missense_Mutation_p.M1615V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACACCTATGACTGCTAT	0.463																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4843-4845)Atg>Gtg		MGA, MAX dimerization protein							90	87	88					15																	42035001		1901	4128	6029	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035001A>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4843A>G	15.37:g.42035001A>G	ENSP00000457035:p.Met1615Val					MGA_ENST00000570161.1_Missense_Mutation_p.M1615V|MGA_ENST00000545763.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.M1615V|MGA_ENST00000566586.1_Intron	p.M1615V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5024	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1615			Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4843A>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	0.063	-1.220418	0.01530	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.82711	-1.62;-1.64	4.96	-0.125	0.13519	.	1.732920	0.03004	N	0.148557	T	0.63498	0.2516	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58216	-0.7675	10	0.19147	T	0.46	.	1.4246	0.02320	0.4018:0.1509:0.3088:0.1385	.	231;1615	B4DVS1;E7ENI0	.;.	V	1615	ENSP00000219905:M1615V;ENSP00000374586:M1615V	ENSP00000219905:M1615V	M	+	1	0	MGA	39822293	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.778000	0.26732	0.058000	0.16222	0.460000	0.39030	ATG		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		16	36	0	0	0	1	0	16	36					G	42035001	A	G	42035001	3	3	155	1	0	0	0	0	1	0	0	0	9540	449	16	4	4897	4	MGA	15	42035001	Missense_Mutation	SNP	A	TCGA-WB-A817-01A-11D-A35I-08		42035001	60496391	10	2760										
RPS27L	51065	broad.mit.edu	37	chr15	63447932	63447932	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtggtgatcttgtagcaaccTaaaaaaaaaaaaaggcaatg	9	5	1	1	rs368882344		TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr15:63447932T>C	ENST00000455271.1	-	3	604		c.e3-2		RPS27L_ENST00000330964.5_Splice_Site|RPS27L_ENST00000411926.1_Splice_Site|RPS27L_ENST00000439025.1_Splice_Site|RPS27L_ENST00000559763.1_5'Flank|RPS27L_ENST00000462430.1_Splice_Site					ribosomal protein S27-like											large_intestine(1)	1						TGTAGCAACCTAAAAAAAAAA	0.398																																						ENST00000330964.5																			0				large_intestine(1)	1						c.e3-2		ribosomal protein S27-like							43	41	42					15																	63447932		1842	4091	5933	SO:0001630	splice_region_variant	51065				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation	nucleus|ribosome	caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity	g.chr15:63447932T>C	BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"S ribosomal proteins"	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000455271.1:c.20-2A>G	15.37:g.63447932T>C						RPS27L_ENST00000439025.1_Splice_Site|RPS27L_ENST00000411926.1_Splice_Site|RPS27L_ENST00000455271.1_Splice_Site|RPS27L_ENST00000462430.1_Splice_Site		NM_015920.3	NP_057004.1	Q71UM5	RS27L_HUMAN			3	512	-									Splice_Site	SNP	ENST00000455271.1	37			.	.	.	.	.	.	.	.	.	.	T	19.97	3.925467	0.73213	.	.	ENSG00000185088	ENST00000330964;ENST00000455271;ENST00000411926;ENST00000439025	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6899	0.69076	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS27L	61234985	1.000000	0.71417	0.963000	0.40424	0.910000	0.53928	5.859000	0.69539	2.152000	0.67230	0.528000	0.53228	.		0.398	RPS27L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339349.2	NM_015920	Intron	4	17	0	0	0	1	0	4	17					C	63447932	T	C	63447932	5	2	155	1	0	0	0	0	0	0	1	0	13640	1536	53	4	148	4	RPS27L	15	63447932	Splice_Site	SNP	T	TCGA-WB-A817-01A-11D-A35I-08	21412931	63447932	39083460	11	2761										
CD300C	10871	broad.mit.edu	37	chr17	72539104	72539104	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gtgcccatggagctctggggGctggaggctgtggtcgtccc	18	11	1	0			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr17:72539104G>T	ENST00000330793.1	-	3	783	c.423C>A	c.(421-423)agC>agA	p.S141R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	141	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTCTGGGGGCTGGAGGCTG	0.607																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(421-423)agC>agA		CD300c molecule							115	100	105					17																	72539104		2203	4300	6503	SO:0001583	missense	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539104G>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.423C>A	17.37:g.72539104G>T	ENSP00000329507:p.Ser141Arg						p.S141R	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			3	783	-			141			Pro-rich.			Missense_Mutation	SNP	ENST00000330793.1	37	c.423C>A	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	G	3.458	-0.110515	0.06924	.	.	ENSG00000167850	ENST00000330793	T	0.03607	3.87	3.23	0.0747	0.14396	.	1.890310	0.02996	N	0.147527	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.30741	0.293	B	0.27076	0.076	T	0.41124	-0.9526	10	0.36615	T	0.2	.	5.3769	0.16170	0.3979:0.0:0.6021:0.0	.	141	Q08708	CLM6_HUMAN	R	141	ENSP00000329507:S141R	ENSP00000329507:S141R	S	-	3	2	CD300C	70050699	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.448000	0.06820	0.069000	0.16605	0.306000	0.20318	AGC		0.607	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		7	29	1	0	0.00448238	1	0.0049056	7	29					T	72539104	G	T	72539104	3	4	155	1	0	0	0	0	1	0	0	0	2997	1194	42	5	259	5	CD300C	17	72539104	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		72539104	8656106	12	2762										
ARID3A	1820	broad.mit.edu	37	chr19	971939	971939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctcccaacaaaggaggcggCggcggcggcggcagcagcag	18	13	0	0	rs535674511	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657													.|||	2	0.000399361	0	0	5008	,	,		9042	0.002		0	False		,,,				2504	0				Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			1	Substitution - coding silent(1)	p.G552G(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1654-1656)ggC>ggT		AT rich interactive domain 3A (BRIGHT-like)							22	30	28					19																	971939		2198	4283	6481	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971939C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1656C>T	19.37:g.971939C>T							p.G552G	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1983	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	552			Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.1656C>T	CCDS12050.1																																																																																				0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	37	0	0	0	1	0	3	37					T	971939	C	T	971939	2	4	155	1	0	0	0	0	0	0	0	1	916	755	27	1		1	ARID3A	19	971939	Silent	SNP	C	TCGA-WB-A817-01A-11D-A35I-08		971939	58157044	13	2763										
MYADM	91663	broad.mit.edu	37	chr19	54377573	54377573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	tctggcccctctaccagttcGatgagaagtatggcggccag	12	12	2	1			TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chr19:54377573G>A	ENST00000391769.2	+	3	1070	c.790G>A	c.(790-792)Gat>Aat	p.D264N	MYADM_ENST00000336967.3_Missense_Mutation_p.D264N|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.D264N|MYADM_ENST00000391770.4_Missense_Mutation_p.D264N|MYADM_ENST00000391768.2_Missense_Mutation_p.D264N	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	264	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.D264Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CTACCAGTTCGATGAGAAGTA	0.637																																						ENST00000391769.2																			1	Substitution - Missense(1)	p.D264Y(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(790-792)Gat>Aat		myeloid-associated differentiation marker							70	63	65					19																	54377573		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377573G>A	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.790G>A	19.37:g.54377573G>A	ENSP00000375649:p.Asp264Asn					MYADM_ENST00000391771.1_Missense_Mutation_p.D264N|MYADM_ENST00000391768.2_Missense_Mutation_p.D264N|MYADM_ENST00000336967.3_Missense_Mutation_p.D264N|MYADM_ENST00000391770.4_Missense_Mutation_p.D264N	p.D264N	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	1070	+	Ovarian(34;0.19)		264			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.790G>A	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067601	0.55539	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	4.3	-5.11	0.02901	Marvel (1);MARVEL-like domain (1);	0.124423	0.50627	N	0.000103	T	0.13884	0.0336	L	0.42581	1.335	0.45330	D	0.99832	B	0.11235	0.004	B	0.04013	0.001	T	0.17471	-1.0368	10	0.16896	T	0.51	-17.5899	6.5573	0.22468	0.4965:0.1257:0.3778:0.0	.	264	Q96S97	MYADM_HUMAN	N	264;264;264;227;264;264	ENSP00000337222:D264N;ENSP00000375650:D264N;ENSP00000375651:D264N;ENSP00000375649:D264N;ENSP00000375648:D264N	ENSP00000337222:D264N	D	+	1	0	MYADM	59069385	0.017000	0.18338	0.036000	0.18154	0.489000	0.33432	0.633000	0.24598	-0.848000	0.04163	0.305000	0.20034	GAT		0.637	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		3	42	0	0	0	1	0	3	42					A	54377573	G	A	54377573	3	1	155	1	0	0	0	0	1	0	0	0	10006	1058	37	2	792	2	MYADM	19	54377573	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08	53405634	54377573	4751410	14	2764										
RGN	9104	broad.mit.edu	37	chrX	46951083	46951083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccttttaaccatagccaaccGcagaagtgtttacaagctag	7	11	0	1	rs147490967	byFrequency	TCGA-WB-A817-01A-11D-A35I-08	TCGA-WB-A817-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f838433f-27eb-4de5-b188-19bec45b6297	c8459b8e-10f3-4a0d-8988-47ea061d3d49	g.chrX:46951083G>T	ENST00000352078.4	+	5	914	c.569G>T	c.(568-570)cGc>cTc	p.R190L	RGN_ENST00000336169.3_Missense_Mutation_p.R190L|RGN_ENST00000397180.1_Missense_Mutation_p.R190L|RGN_ENST00000457380.1_Missense_Mutation_p.R118L	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	190					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATAGCCAACCGCAGAAGTGTT	0.428																																						ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(568-570)cGc>cTc		regucalcin							108	102	104					X																	46951083		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951083G>T	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"senescence marker protein-30", "gluconolactonase"	300212	"regucalcin (senescence marker protein-30)"			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.569G>T	X.37:g.46951083G>T	ENSP00000253303:p.Arg190Leu					RGN_ENST00000352078.4_Missense_Mutation_p.R190L|RGN_ENST00000336169.3_Missense_Mutation_p.R190L|RGN_ENST00000457380.1_Missense_Mutation_p.R118L	p.R190L	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN			6	1538	+			190					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.569G>T	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360674	0.82353	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.29917	1.55;1.62;1.55;1.55	6.02	6.02	0.97574	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.048497	0.85682	D	0.000000	T	0.56426	0.1984	M	0.88450	2.955	0.80722	D	1	P;D	0.56287	0.866;0.975	B;P	0.55260	0.269;0.772	T	0.64114	-0.6483	10	0.62326	D	0.03	-25.4877	15.8082	0.78531	0.0:0.1414:0.8586:0.0	.	118;190	Q15493-2;Q15493	.;RGN_HUMAN	L	190;118;190;190	ENSP00000380365:R190L;ENSP00000406568:R118L;ENSP00000253303:R190L;ENSP00000338400:R190L	ENSP00000338400:R190L	R	+	2	0	RGN	46836027	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	2.641000	0.46587	2.555000	0.86185	0.591000	0.81541	CGC		0.428	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		3	21	1	0	0.004672	1	0.0049056	3	21					T	46951083	G	T	46951083	3	4	155	1	0	0	0	0	1	0	0	0	13282	1087	38	5	583	5	RGN	23	46951083	Missense_Mutation	SNP	G	TCGA-WB-A817-01A-11D-A35I-08		46951083	108319477	15	2765										
TRIM17	51127	broad.mit.edu	37	chr1	228596776	228596776	+	Intron	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	caccaggcagtgcacttgtaGaaccccccccattggtggct	10	15	0	1			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr1:228596776G>C	ENST00000366697.2	-	5	1840				RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.S327C|TRIM17_ENST00000366698.2_Intron|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Intron|TRIM11_ENST00000284551.6_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGCACTTGTAGAACCCCCCCC	0.572																																						ENST00000456946.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(979-981)tCt>tGt		tripartite motif containing 17							61	73	70					1																	228596776		692	1591	2283	SO:0001627	intron_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596776G>C	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+96C>G	1.37:g.228596776G>C						RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	p.S327C	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN			6	1355	-		Prostate(94;0.0724)	0			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.980C>G	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177217	0.06380	.	.	ENSG00000162931	ENST00000456946	T	0.37584	1.19	1.32	1.32	0.21799	.	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.37601	0.254	T	0.07252	-1.0782	9	0.31617	T	0.26	.	6.0414	0.19736	0.0:0.0:1.0:0.0	.	327	Q9Y577-2	.	C	327	ENSP00000403312:S327C	ENSP00000403312:S327C	S	-	2	0	TRIM17	226663399	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.180000	0.09754	1.042000	0.40150	0.655000	0.94253	TCT		0.572	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		9	22	0	0	0	1	0	9	22					C	228596776	G	C	228596776	1	2	156	0	1	0	0	0	0	0	0	0	16490	942	33	5		5	TRIM17	1	228596776	Intron	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		228596776	20653845	1	2766										
TTN	7273	broad.mit.edu	37	chr2	179455982	179455982	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	cggctactgttttgctaccgGctgcattggaaactgtgatt	11	9	0	1			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr2:179455982G>T	ENST00000591111.1	-	254	55771	c.55547C>A	c.(55546-55548)gCc>gAc	p.A18516D	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A20157D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18516	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTACCGGCTGCATTGGA	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60469-60471)gCc>gAc		titin							236	240	239					2																	179455982		1914	4134	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455982G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55547C>A	2.37:g.179455982G>T	ENSP00000465570:p.Ala18516Asp					TTN_ENST00000591111.1_Missense_Mutation_p.A18516D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D|TTN-AS1_ENST00000590807.1_RNA	p.A20157D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60694	-			18516			Fibronectin type-III 46.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60470C>A		.	.	.	.	.	.	.	.	.	.	G	11.98	1.799657	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84844	0.5562	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	D	0.87287	0.2296	9	0.87932	D	0	.	14.832	0.70156	0.0681:0.0:0.9319:0.0	.	11092;11217;11284;18516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	17589;11092;11284;11217;11090	ENSP00000343764:A17589D;ENSP00000434586:A11092D;ENSP00000340554:A11284D;ENSP00000352154:A11217D	ENSP00000340554:A11284D	A	-	2	0	TTN	179164228	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.029000	0.88807	2.906000	0.99361	0.655000	0.94253	GCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	163	1	0	1	1	1	4	163					T	179455982	G	T	179455982	3	4	156	1	0	0	0	0	1	0	0	0	16732	1203	42	5	47745	5	TTN	2	179455982	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		179455982	63743391	2	2767										
PPP6C	5537	broad.mit.edu	37	chr9	127915922	127915922	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	atcacaaaatgctcctttatGaggaatttcctgattccgtt	6	9	1	2			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr9:127915922G>A	ENST00000373547.4	-	6	658	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000451402.1_Missense_Mutation_p.H224Y	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	187					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCTCCTTTATGAGGAATTTCC	0.438																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(670-672)Cat>Tat		protein phosphatase 6, catalytic subunit							91	81	85					9																	127915922		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915922G>A	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.559C>T	9.37:g.127915922G>A	ENSP00000362648:p.His187Tyr					PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000373547.4_Missense_Mutation_p.H187Y	p.H224Y	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	890	-			187					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.670C>T	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798326	0.70567	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.87547	2.89	0.80722	D	1	B;B;B	0.18013	0.01;0.002;0.025	B;B;B	0.22753	0.041;0.005;0.028	T	0.64347	-0.6429	10	0.72032	D	0.01	-20.0968	18.9632	0.92684	0.0:0.0:1.0:0.0	.	165;224;187	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	Y	187;224;165;40	ENSP00000362648:H187Y;ENSP00000392147:H224Y;ENSP00000411744:H165Y;ENSP00000362647:H40Y	ENSP00000362647:H40Y	H	-	1	0	PPP6C	126955743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.421000	0.97455	2.724000	0.93272	0.585000	0.79938	CAT		0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		4	48	0	0	0	1	0	4	48					A	127915922	G	A	127915922	3	1	156	1	0	0	0	0	1	0	0	0	12407	1290	45	3	366	3	PPP6C	9	127915922	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		127915922	13297509	3	2768										
SORBS1	10580	broad.mit.edu	37	chr10	97131803	97131803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	ataatcccatatctttttggGaggctgacgggaagcagagg	13	7	1	2			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr10:97131803G>A	ENST00000361941.3	-	18	1767	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371247.2_Missense_Mutation_p.P581S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTTTTTGGGAGGCTGACGG	0.478																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1741-1743)Ccc>Tcc		sorbin and SH3 domain containing 1							85	82	83					10																	97131803		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97131803G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1741C>T	10.37:g.97131803G>A	ENSP00000355136:p.Pro581Ser					SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P581S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron	p.P581S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	20	1930	-		Colorectal(252;0.0429)	581						Missense_Mutation	SNP	ENST00000361941.3	37	c.1741C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378033	0.82682	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T	0.39997	1.05;3.09;3.06;3.41;2.93;1.05;3.09;3.41;2.93	5.69	5.69	0.88448	.	0.000000	0.38837	N	0.001554	T	0.54095	0.1837	N	0.20986	0.625	0.80722	D	1	P;D;P;D;P	0.89917	0.734;0.999;0.911;1.0;0.577	B;D;B;D;B	0.85130	0.421;0.994;0.433;0.997;0.187	T	0.57015	-0.7883	10	0.62326	D	0.03	-13.6127	19.7999	0.96502	0.0:0.0:1.0:0.0	.	535;466;581;603;551	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-5	.;.;SRBS1_HUMAN;.;.	S	466;581;535;603;551;466;581;603;551	ENSP00000360291:P466S;ENSP00000360293:P581S;ENSP00000360271:P535S;ENSP00000360292:P603S;ENSP00000377521:P551S;ENSP00000343998:P466S;ENSP00000355136:P581S;ENSP00000277982:P603S;ENSP00000277984:P551S	ENSP00000277982:P603S	P	-	1	0	SORBS1	97121793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.523000	0.90576	2.691000	0.91804	0.561000	0.74099	CCC		0.478	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			8	13	0	0	0	1	0	8	13					A	97131803	G	A	97131803	3	1	156	1	0	0	0	0	1	0	0	0	14927	1174	41	3	2257	3	SORBS1	10	97131803	Missense_Mutation	SNP	G	TCGA-WB-A818-01A-11D-A35I-08		97131803	38402944	4	2769										
SYNE2	23224	broad.mit.edu	37	chr14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	gcaggaagacgggggactggCcggtatcacagagcagcagt	17	9	1	2			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr14:64685207C>T	ENST00000344113.4	+	108	19777	c.19565C>T	c.(19564-19566)gCc>gTc	p.A6522V	SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8719-8721)gCc>gTc		spectrin repeat containing, nuclear envelope 2							60	63	62					14																	64685207		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64685207C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19565C>T	14.37:g.64685207C>T	ENSP00000341781:p.Ala6522Val					SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V	p.A2907V			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	19864	+			6522					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8720C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028348	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47177	0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74	4.83	4.83	0.62350	.	0.300803	0.23782	N	0.044608	T	0.42743	0.1216	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;P	0.38048	0.03;0.03;0.107;0.107;0.009;0.192;0.616	B;B;B;B;B;B;B	0.34824	0.01;0.033;0.061;0.023;0.01;0.082;0.19	T	0.45833	-0.9234	10	0.51188	T	0.08	.	13.2847	0.60237	0.0:1.0:0.0:0.0	.	179;2907;53;179;910;6522;6545	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	V	6545;2907;6522;3179;2907;400;305;179;53	ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V	ENSP00000341781:A6522V	A	+	2	0	SYNE2	63754960	0.417000	0.25432	0.013000	0.15412	0.004000	0.04260	1.003000	0.29809	2.489000	0.83994	0.561000	0.74099	GCC		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		3	11	0	0	0	1	0	3	11					T	64685207	C	T	64685207	3	4	156	1	0	0	0	0	1	0	0	0	15443	739	26	3	20064	3	SYNE2	14	64685207	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		64685207	42664333	5	2770										
MEFV	4210	broad.mit.edu	37	chr16	3306389	3306389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	gacctgcagggtgagctgcaCggcgtactcttccccatagt	12	13	1	1			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr16:3306389C>T	ENST00000219596.1	-	1	238	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	67	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTGAGCTGCACGGCGTACTCT	0.657																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(199-201)Gtg>Atg		Mediterranean fever	Colchicine(DB01394)						63	63	63					16																	3306389		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306389C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.199G>A	16.37:g.3306389C>T	ENSP00000219596:p.Val67Met					MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M	p.V67M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	238	-			67			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.199G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136955	0.37728	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.98	2.99	0.34606	Pyrin (2);DEATH-like (2);	0.497561	0.17055	N	0.188761	T	0.66257	0.2771	M	0.83953	2.67	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55939	-0.8061	10	0.87932	D	0	-22.6148	6.3171	0.21196	0.0:0.6907:0.1511:0.1582	.	67	O15553	MEFV_HUMAN	M	67	ENSP00000219596:V67M;ENSP00000339639:V67M;ENSP00000438711:V67M;ENSP00000445079:V67M	ENSP00000219596:V67M	V	-	1	0	MEFV	3246390	0.001000	0.12720	0.003000	0.11579	0.172000	0.22775	0.368000	0.20399	0.430000	0.26230	0.591000	0.81541	GTG		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		15	39	0	0	0	1	0	15	39					T	3306389	C	T	3306389	3	4	156	1	0	0	0	0	1	0	0	0	9459	536	19	1	2186	1	MEFV	16	3306389	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		3306389	87048364	6	2771										
MYH8	4626	broad.mit.edu	37	chr17	10305000	10305000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	agcattgatctcttcctcctCctcagctctttcagtcacct	4	16	5	1	rs142137577		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:10305000C>T	ENST00000403437.2	-	23	2885	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	931					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTCCTCCTCCTCAGCTCTT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2791-2793)Gag>Aag		myosin, heavy chain 8, skeletal muscle, perinatal		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	352	338	343		2791	5.3	1	17	dbSNP_134	343	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MYH8	NM_002472.2	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	931/1938	10305000	4,13002	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10305000C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2791G>A	17.37:g.10305000C>T	ENSP00000384330:p.Glu931Lys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E931K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			23	2885	-			931					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2791G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	2.27E-4	3.49E-4	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.94793	-3.52	5.31	5.31	0.75309	.	0.158984	0.28521	U	0.015045	D	0.95708	0.8604	M	0.87758	2.905	0.45867	D	0.998726	B	0.27166	0.17	B	0.33121	0.158	D	0.94593	0.7789	10	0.87932	D	0	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	931	P13535	MYH8_HUMAN	K	931	ENSP00000384330:E931K	ENSP00000252173:E931K	E	-	1	0	MYH8	10245725	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.609000	0.82925	2.779000	0.95612	0.591000	0.81541	GAG		0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	90	0	0	0	1	0	7	90					T	10305000	C	T	10305000	3	4	156	1	0	0	0	0	1	0	0	0	10041	864	30	3	3094	3	MYH8	17	10305000	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		10305000	70890210	7	2772										
NF1	4763	broad.mit.edu	37	chr17	29667527	29667528	+	Frame_Shift_Del	DEL	CG	CG	-													0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	atatcttctttgccaggactCgcctctgcacaaagccctct							TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:29667527_29667528delCG	ENST00000358273.4	+	47	7309_7310	c.6926_6927delCG	c.(6925-6927)tcgfs	p.S2309fs	NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2309					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCCAGGACTCGCCTCTGCACA	0.441			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(1)|Insertion - Frameshift(1)	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	soft_tissue(7)|autonomic_ganglia(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6925-6927)tfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667527_29667528delCG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6926_6927delCG	17.37:g.29667527_29667528delCG	ENSP00000351015:p.Ser2309fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs	p.S2309fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7309_7310	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2309					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6926_6927delCG	CCDS42292.1																																																																																				0.441	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		13	16						13	16	---	---	---	---	-	29667528	CG	-	29667527	7	5	156	1	0	1	0	1	0	0	0	0	10356	893	31	0	7173	0	NF1	17	29667527	Frame_Shift_Del	DEL	CG	TCGA-WB-A818-01A-11D-A35I-08	19362527	29667527	51527683	8	2773										
DMKN	93099	broad.mit.edu	37	chr19	36004008	36004008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	gccgcggacagcatctgctcCgtgtcgaatgacatcttctg	11	13	3	1			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr19:36004008C>T	ENST00000339686.3	-	1	546	c.370G>A	c.(370-372)Gga>Aga	p.G124R	DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R|DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000602781.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	124	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATCTGCTCCGTGTCGAATG	0.617																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(370-372)Gga>Aga		dermokine							103	96	98					19																	36004008		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36004008C>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.370G>A	19.37:g.36004008C>T	ENSP00000342012:p.Gly124Arg					DMKN_ENST00000418261.1_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R	p.G124R	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	546	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		124			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.370G>A	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611585	0.28712	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.55052	1.25;1.09;1.03;0.54;0.62;0.66;0.66;0.73	4.38	3.34	0.38264	.	0.226724	0.22661	N	0.057193	T	0.50786	0.1636	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B;B;B	0.33135	0.039;0.119;0.119;0.039;0.399;0.399;0.271	B;B;B;B;B;B;B	0.32980	0.063;0.016;0.028;0.063;0.156;0.156;0.156	T	0.42085	-0.9472	10	0.44086	T	0.13	-2.1229	12.9631	0.58470	0.0:0.9093:0.0:0.0907	.	124;124;124;124;124;124;124	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	R	124	ENSP00000342012:G124R;ENSP00000405503:G124R;ENSP00000391036:G124R;ENSP00000394908:G124R;ENSP00000415277:G124R;ENSP00000414743:G124R;ENSP00000388404:G124R;ENSP00000409513:G124R	ENSP00000342012:G124R	G	-	1	0	DMKN	40695848	0.042000	0.20092	0.001000	0.08648	0.004000	0.04260	1.479000	0.35453	0.515000	0.28320	-1.314000	0.01303	GGA		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		8	9	0	0	0	1	0	8	9					T	36004008	C	T	36004008	3	4	156	1	0	0	0	0	1	0	0	0	4582	661	23	2	1441	2	DMKN	19	36004008	Missense_Mutation	SNP	C	TCGA-WB-A818-01A-11D-A35I-08		36004008	23124975	9	2774										
DCAF8L2	347442	broad.mit.edu	37	chrX	27765849	27765849	+	Frame_Shift_Del	DEL	C	C	-													0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	aatgtcttccaggccaagttCcttcctaactgtggtgattc							TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:27765849delC	ENST00000451261.2	+	5	1236	c.837delC	c.(835-837)ttcfs	p.F279fs		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	279										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGGCCAAGTTCCTTCCTAACT	0.478																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(835-837)ttfs		DDB1 and CUL4 associated factor 8-like 2							173	133	145					X																	27765849		692	1591	2283	SO:0001589	frameshift_variant	347442							g.chrX:27765849delC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.837delC	X.37:g.27765849delC	ENSP00000462745:p.Phe279fs						p.F279fs	NM_001136533.1	NP_001130005.1					5	1236	+								B2RXH9|J3KT06	Frame_Shift_Del	DEL	ENST00000451261.2	37	c.837delC	CCDS59162.1																																																																																				0.478	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		2	4						2	4	---	---	---	---	-	27765849	C	-	27765849	7	5	156	1	0	1	0	1	0	0	0	0	4278	854	30	0	839	0	DCAF8L2	23	27765849	Frame_Shift_Del	DEL	C	TCGA-WB-A818-01A-11D-A35I-08		27765849	127504711	10	2775										
USP9X	8239	broad.mit.edu	37	chrX	40990708	40990708	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	ttttgtttggtaaaacttttAggcctcgatgggtggttcca	11	6	0	0			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:40990708A>G	ENST00000324545.8	+	4	875		c.e4-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAACTTTTAGGCCTCGATG	0.323																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e4-1		ubiquitin specific peptidase 9, X-linked							125	118	120					X																	40990708		2203	4300	6503	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40990708A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.243-1A>G	X.37:g.40990708A>G						USP9X_ENST00000378308.2_Splice_Site		NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			4	875	+								O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37		CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874910	0.72180	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1419	0.65325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40875652	1.000000	0.71417	0.962000	0.40283	0.910000	0.53928	8.927000	0.92846	1.786000	0.52430	0.486000	0.48141	.		0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	3	45	0	0	0	1	0	3	45					G	40990708	A	G	40990708	5	3	156	1	0	0	0	0	0	0	1	0	17087	434	15	4	251	4	USP9X	23	40990708	Splice_Site	SNP	A	TCGA-WB-A818-01A-11D-A35I-08	13224859	40990708	114279852	11	2776										
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													0.166666666666667	2	1	2.38509316770186	8.34782608695652	1.39130434782609	1	1	0	ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	3						4	3	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	156	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-WB-A818-01A-11D-A35I-08	10248588	51239296	104031264	12	2777										
CCBL2	56267	broad.mit.edu	37	chr1	89427800	89427800	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	ttctcaccatgggctcatagCagtcatagaaaggcactatt	8	10	3	1			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr1:89427800C>A	ENST00000260508.4	-	6	819	c.482G>T	c.(481-483)tGc>tTc	p.C161F	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.C127F	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	161					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		GGGCTCATAGCAGTCATAGAA	0.378																																						ENST00000260508.4																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18						c.(481-483)tGc>tTc		cysteine conjugate-beta lyase 2	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						124	113	117					1																	89427800		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89427800C>A	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.482G>T	1.37:g.89427800C>A	ENSP00000260508:p.Cys161Phe					CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.C127F|CCBL2_ENST00000446900.2_5'UTR	p.C161F	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	6	819	-		Lung NSC(277;0.123)	161					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.482G>T	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718404	0.89205	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370486	D;D;D	0.90197	-2.63;-2.63;-2.63	5.92	5.92	0.95590	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96648	0.8906	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96719	0.9531	10	0.87932	D	0	-35.4141	20.2995	0.98608	0.0:1.0:0.0:0.0	.	161	Q6YP21	KAT3_HUMAN	F	127;161;161	ENSP00000359522:C127F;ENSP00000260508:C161F;ENSP00000359517:C161F	ENSP00000260508:C161F	C	-	2	0	CCBL2	89200388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.176000	0.77643	2.799000	0.96334	0.655000	0.94253	TGC		0.378	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		3	41	1	0	1	1	1	3	41					A	89427800	C	A	89427800	3	1	157	1	0	0	0	0	1	0	0	0	2733	710	25	5	918	5	CCBL2	1	89427800	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		89427800	159822821	1	2778										
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	788	0	0	0	1	0	6	788					G	152128186	A	G	152128186	2	3	157	1	0	0	0	0	0	0	0	1	13664	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-WB-A819-01A-11D-A35I-08	62700386	152128186	97122435	2	2779										
CACNA1S	779	broad.mit.edu	37	chr1	201029810	201029810	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	atgccgaggcagatggtgttGagcatgatgagggcaaacat	15	6	0	4	rs140294191		TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr1:201029810G>T	ENST00000362061.3	-	26	3616	c.3390C>A	c.(3388-3390)ctC>ctA	p.L1130L	CACNA1S_ENST00000367338.3_Silent_p.L1130L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1130					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATGGTGTTGAGCATGATGA	0.527																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3388-3390)ctC>ctA		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						214	199	204					1																	201029810		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029810G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3390C>A	1.37:g.201029810G>T						CACNA1S_ENST00000367338.3_Silent_p.L1130L	p.L1130L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			26	3616	-			1130					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3390C>A	CCDS1407.1																																																																																				0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		6	132	1	0	0.0215528	1	0.023708	6	132					T	201029810	G	T	201029810	2	4	157	1	0	0	0	0	0	0	0	1	2547	1277	45	5		5	CACNA1S	1	201029810	Silent	SNP	G	TCGA-WB-A819-01A-11D-A35I-08	48901624	201029810	48220811	3	2780										
SULF1	23213	broad.mit.edu	37	chr8	70540461	70540461	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	agaaattaaagagccatcttCacccattcaagtaagtaact	5	9	3	2			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr8:70540461C>T	ENST00000260128.4	+	18	2815	c.2098C>T	c.(2098-2100)Cac>Tac	p.H700Y	SULF1_ENST00000419716.3_Missense_Mutation_p.H700Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H700Y|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.H700Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	700					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAGCCATCTTCACCCATTCAA	0.428																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2098-2100)Cac>Tac		sulfatase 1							104	109	108					8																	70540461		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70540461C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2098C>T	8.37:g.70540461C>T	ENSP00000260128:p.His700Tyr					SULF1_ENST00000402687.4_Missense_Mutation_p.H700Y|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.H700Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H700Y	p.H700Y	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		18	2815	+	Breast(64;0.0654)		700					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2098C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831028	0.71258	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.14	5.14	0.70334	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	M	0.79258	2.445	0.48395	D	0.99964	P	0.36330	0.548	B	0.36030	0.216	T	0.10776	-1.0615	10	0.33141	T	0.24	.	18.621	0.91321	0.0:1.0:0.0:0.0	.	700	Q8IWU6	SULF1_HUMAN	Y	700	ENSP00000403040:H700Y;ENSP00000260128:H700Y;ENSP00000385704:H700Y;ENSP00000390315:H700Y	ENSP00000260128:H700Y	H	+	1	0	SULF1	70703015	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.331000	0.59273	2.371000	0.80710	0.563000	0.77884	CAC		0.428	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		20	56	0	0	0	1	0	20	56					T	70540461	C	T	70540461	3	4	157	1	0	0	0	0	1	0	0	0	15369	826	29	3	2152	3	SULF1	8	70540461	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		70540461	75823561	4	2781										
SECISBP2	79048	broad.mit.edu	37	chr9	91972365	91972365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	gcacacaattattgattatgCctgtgagcagaacattccct	7	10	0	3			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr9:91972365C>T	ENST00000375807.3	+	15	2224	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A645V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A650V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	718					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATTGATTATGCCTGTGAGCAG	0.468																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2152-2154)gCc>gTc		SECIS binding protein 2							301	274	283					9																	91972365		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972365C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2153C>T	9.37:g.91972365C>T	ENSP00000364965:p.Ala718Val					SECISBP2_ENST00000339901.4_Missense_Mutation_p.A645V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A650V	p.A718V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN			15	2224	+			718					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2153C>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354685	0.82243	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.80824	-1.42;-1.42;-1.42	4.54	4.54	0.55810	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.123631	0.64402	D	0.000019	D	0.89726	0.6798	M	0.78049	2.395	0.37452	D	0.914843	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92402	0.5930	10	0.72032	D	0.01	-15.9529	17.8153	0.88630	0.0:1.0:0.0:0.0	.	725;645;718	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	V	718;724;645;650	ENSP00000364965:A718V;ENSP00000364959:A645V;ENSP00000436650:A650V	ENSP00000364959:A645V	A	+	2	0	SECISBP2	91162185	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.825000	0.55730	2.511000	0.84671	0.561000	0.74099	GCC		0.468	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		4	202	0	0	0	1	0	4	202					T	91972365	C	T	91972365	3	4	157	1	0	0	0	0	1	0	0	0	14006	739	26	3	2211	3	SECISBP2	9	91972365	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		91972365	49241066	5	2782										
RET	5979	broad.mit.edu	37	chr10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	tcggattccagttaaatggaTggcaattgaatccctttttg	9	7	0	1	rs74799832		TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAATGGATGGCAATTGAA	0.443		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	247	Substitution - Missense(247)	p.M918T(247)	thyroid(231)|adrenal_gland(16)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM941246	RET	M	rs74799832	c.(2752-2754)aTg>aCg		ret proto-oncogene	Sunitinib(DB01268)						262	244	250					10																	43617416		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617416T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2753T>C	10.37:g.43617416T>C	ENSP00000347942:p.Met918Thr					RET_ENST00000340058.5_Missense_Mutation_p.M918T	p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	2985	+		Ovarian(717;0.0423)	918		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2753T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427864	0.83667	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90504	-2.68;-2.68	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.52126	1.63	0.80722	A	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94557	0.7759	9	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	664;918;918	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	918	ENSP00000347942:M918T;ENSP00000344798:M918T	ENSP00000344798:M918T	M	+	2	0	RET	42937422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.198000	0.70561	0.533000	0.62120	ATG		0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		35	81	0	0	0	1	0	35	81					C	43617416	T	C	43617416	3	2	157	1	0	0	0	0	1	0	0	0	13235	1464	51	4	2815	4	RET	10	43617416	Missense_Mutation	SNP	T	TCGA-WB-A819-01A-11D-A35I-08		43617416	91917331	6	2783										
BBS2	583	broad.mit.edu	37	chr16	56545120	56545120	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	tgaaaccttgcagagcacaaTtgccaccaataatcgcaaga	7	11	0	3	rs144680278	byFrequency	TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr16:56545120T>C	ENST00000245157.5	-	3	842	c.422A>G	c.(421-423)aAt>aGt	p.N141S	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.N141S	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	141					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CAGAGCACAATTGCCACCAAT	0.398									Bardet-Biedl syndrome				T|||	2	0.000399361	0	0	5008	,	,		18807	0.002		0	False		,,,				2504	0					ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(421-423)aAt>aGt		Bardet-Biedl syndrome 2							126	109	115					16																	56545120		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56545120T>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.422A>G	16.37:g.56545120T>C	ENSP00000245157:p.Asn141Ser					BBS2_ENST00000568104.1_Missense_Mutation_p.N141S|BBS2_ENST00000561951.1_5'UTR	p.N141S	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			3	842	-			141					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.422A>G	CCDS32451.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	22.4	4.289858	0.80914	.	.	ENSG00000125124	ENST00000245157	D	0.84873	-1.91	5.9	5.9	0.94986	WD40 repeat-like-containing domain (1);	0.081471	0.85682	D	0.000000	D	0.92267	0.7547	M	0.78456	2.415	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92489	0.5999	10	0.52906	T	0.07	-25.8089	16.3294	0.83004	0.0:0.0:0.0:1.0	.	141;141	A8K0N9;Q9BXC9	.;BBS2_HUMAN	S	141	ENSP00000245157:N141S	ENSP00000245157:N141S	N	-	2	0	BBS2	55102621	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.066000	0.71185	2.259000	0.74868	0.523000	0.50628	AAT		0.398	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		5	90	0	0	0	1	0	5	90					C	56545120	T	C	56545120	3	2	157	1	0	0	0	0	1	0	0	0	1338	1493	52	4	1803	4	BBS2	16	56545120	Missense_Mutation	SNP	T	TCGA-WB-A819-01A-11D-A35I-08		56545120	33809633	7	2784										
PRPF8	10594	broad.mit.edu	37	chr17	1577856	1577856	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	tctgagggggcccagccatcTcactggcccggtgcaatccc	12	16	2	1			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr17:1577856T>C	ENST00000572621.1	-	20	3444	c.3179A>G	c.(3178-3180)gAg>gGg	p.E1060G	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1060G			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1060	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCAGCCATCTCACTGGCCCG	0.517																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3178-3180)gAg>gGg		pre-mRNA processing factor 8							150	145	147					17																	1577856		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577856T>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3179A>G	17.37:g.1577856T>C	ENSP00000460348:p.Glu1060Gly					PRPF8_ENST00000304992.6_Missense_Mutation_p.E1060G	p.E1060G			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	20	3444	-			1060					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3179A>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708336	0.89018	.	.	ENSG00000174231	ENST00000304992	D	0.83075	-1.68	5.25	5.25	0.73442	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	M	0.92555	3.32	0.80722	D	1	P	0.51791	0.948	P	0.59012	0.85	D	0.93853	0.7147	10	0.87932	D	0	.	15.3304	0.74203	0.0:0.0:0.0:1.0	.	1060	Q6P2Q9	PRP8_HUMAN	G	1060	ENSP00000304350:E1060G	ENSP00000304350:E1060G	E	-	2	0	PRPF8	1524606	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.868000	0.87116	2.212000	0.71576	0.260000	0.18958	GAG		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			9	109	0	0	0	1	0	9	109					C	1577856	T	C	1577856	3	2	157	1	0	0	0	0	1	0	0	0	12575	1551	54	4	3920	4	PRPF8	17	1577856	Missense_Mutation	SNP	T	TCGA-WB-A819-01A-11D-A35I-08		1577856	79617354	8	2785										
HEXDC	284004	broad.mit.edu	37	chr17	80400118	80400118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	cctgcagctggctttctaccCggatgccgtggaggagtggc	15	12	1	0			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr17:80400118C>A	ENST00000327949.9	+	12	1330	c.1319C>A	c.(1318-1320)cCg>cAg	p.P440Q	HEXDC_ENST00000337014.6_Silent_p.R470R|HEXDC_ENST00000577944.1_Silent_p.P442P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	440					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTTTCTACCCGGATGCCGTG	0.667																																						ENST00000327949.9																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1318-1320)cCg>cAg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							23	26	25					17																	80400118		2091	4212	6303	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400118C>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1319C>A	17.37:g.80400118C>A	ENSP00000332634:p.Pro440Gln					HEXDC_ENST00000577944.1_Silent_p.P442P|HEXDC_ENST00000337014.6_Silent_p.R470R	p.P440Q			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	1330	+	Breast(20;0.00106)|all_neural(118;0.0804)		440					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1319C>A		.	.	.	.	.	.	.	.	.	.	C	8.425	0.847282	0.17034	.	.	ENSG00000169660	ENST00000327949	T	0.29655	1.56	5.4	5.4	0.78164	.	.	.	.	.	T	0.29716	0.0742	.	.	.	0.31883	N	0.618202	D	0.53619	0.961	P	0.46718	0.525	T	0.16571	-1.0398	8	0.25751	T	0.34	-4.7649	11.0339	0.47789	0.1431:0.7187:0.1382:0.0	.	440	Q8WVB3	HEXDC_HUMAN	Q	440	ENSP00000332634:P440Q	ENSP00000332634:P440Q	P	+	2	0	HEXDC	77993407	0.182000	0.23173	0.949000	0.38748	0.235000	0.25334	0.964000	0.29306	2.532000	0.85374	0.561000	0.74099	CCG		0.667	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		5	17	1	0	0.184627	1	0.193419	5	17					A	80400118	C	A	80400118	3	1	157	1	0	0	0	0	1	0	0	0	7075	643	23	5	1450	5	HEXDC	17	80400118	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08	78822262	80400118	795092	9	2786										
ZNF407	55628	broad.mit.edu	37	chr18	72776115	72776115	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	ggggagatctcgcagatcatCgtgacggaggagctggtcca	16	9	2	3			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr18:72776115C>G	ENST00000299687.5	+	8	6438	c.6438C>G	c.(6436-6438)atC>atG	p.I2146M		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6436-6438)atC>atG		zinc finger protein 407							29	35	33					18																	72776115		2182	4289	6471	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72776115C>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6438C>G	18.37:g.72776115C>G	ENSP00000299687:p.Ile2146Met						p.I2146M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6438	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2146					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6438C>G	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813811	0.50527	.	.	ENSG00000215421	ENST00000299687	T	0.19669	2.13	4.67	-5.06	0.02946	.	.	.	.	.	T	0.35711	0.0941	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.67688	-0.5606	9	0.87932	D	0	.	7.8148	0.29252	0.1121:0.2568:0.0:0.631	.	2146	Q9C0G0	ZN407_HUMAN	M	2146	ENSP00000299687:I2146M	ENSP00000299687:I2146M	I	+	3	3	ZNF407	70905103	0.229000	0.23729	0.621000	0.29145	0.953000	0.61014	-1.014000	0.03641	2.140000	0.66376	0.462000	0.41574	ATC		0.652	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		4	9	0	0	0	1	0	4	9					G	72776115	C	G	72776115	3	3	157	1	0	0	0	0	1	0	0	0	17884	874	31	5	6598	5	ZNF407	18	72776115	Missense_Mutation	SNP	C	TCGA-WB-A819-01A-11D-A35I-08		72776115	5301133	10	2787										
HSPA12B	116835	broad.mit.edu	37	chr20	3732491	3732491	+	Frame_Shift_Del	DEL	C	C	-													0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	cttcgagcgcttcgtggccgCcgagcagtcggtggccctgg							TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr20:3732491delC	ENST00000254963.2	+	13	1884	c.1739delC	c.(1738-1740)gccfs	p.A580fs	HSPA12B_ENST00000542646.1_Frame_Shift_Del_p.A414fs	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	580							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TTCGTGGCCGCCGAGCAGTCG	0.716																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1738-1740)gcfs		heat shock 70kD protein 12B							3	4	3					20																	3732491		1848	3642	5490	SO:0001589	frameshift_variant	116835						ATP binding	g.chr20:3732491delC	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1739delC	20.37:g.3732491delC	ENSP00000254963:p.Ala580fs					HSPA12B_ENST00000542646.1_Frame_Shift_Del_p.A414fs	p.A580fs	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			13	1884	+			580					D3DVX7|Q2TAK3|Q9BR52	Frame_Shift_Del	DEL	ENST00000254963.2	37	c.1739delC	CCDS13061.1																																																																																				0.716	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		2	4						2	4	---	---	---	---	-	3732491	C	-	3732491	7	5	157	1	0	1	0	1	0	0	0	0	7405	739	26	0	1785	0	HSPA12B	20	3732491	Frame_Shift_Del	DEL	C	TCGA-WB-A819-01A-11D-A35I-08		3732491	59293029	11	2788										
DPM1	8813	broad.mit.edu	37	chr20	49551759	49551759	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	1	1	2.0462962962963	0	3.06944444444444	1	1	0	tcaccataaacacgatccacAaatgatattggaacctagtt	5	10	1	1			TCGA-WB-A819-01A-11D-A35I-08	TCGA-WB-A819-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c1bfb8-9744-4af4-a1f8-462abc9004a4	f6cc1cf9-c3e3-4b5a-8265-401390550102	g.chr20:49551759A>G	ENST00000371588.5	-	9	719	c.693T>C	c.(691-693)ttT>ttC	p.F231F	DPM1_ENST00000371582.4_Silent_p.F258F|DPM1_ENST00000371583.5_Silent_p.F226F|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	231					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CACGATCCACAAATGATATTG	0.318																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(772-774)ttT>ttC		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							74	83	80					20																	49551759		2201	4294	6495	SO:0001819	synonymous_variant	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49551759A>G	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.693T>C	20.37:g.49551759A>G						DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Silent_p.F226F|DPM1_ENST00000371588.5_Silent_p.F231F|RP5-914P20.5_ENST00000558899.2_RNA	p.F258F			O60762	DPM1_HUMAN			10	805	-			231					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.774T>C	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	A	1.087	-0.665324	0.03428	.	.	ENSG00000000419	ENST00000371584	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.71256	0.3318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	-18.8742	15.1194	0.72429	1.0:0.0:0.0:0.0	.	.	.	.	R	266	.	.	C	-	1	0	DPM1	48985166	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	6.760000	0.74939	2.050000	0.60909	0.374000	0.22700	TGT		0.318	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		36	95	0	0	0	1	0	36	95					G	49551759	A	G	49551759	2	3	157	1	0	0	0	0	0	0	0	1	4724	127	5	4		4	DPM1	20	49551759	Silent	SNP	A	TCGA-WB-A819-01A-11D-A35I-08	45819268	49551759	13473761	12	2789										
NID1	4811	broad.mit.edu	37	chr1	236154305	236154305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	cccaggaggcaaggggatcaCggcggtaggcaccgcaggtc	17	12	1	0	rs200467845		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr1:236154305C>T	ENST00000264187.6	-	14	2891	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	NID1_ENST00000366595.3_Missense_Mutation_p.V804M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	937					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.V937M(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AAGGGGATCACGGCGGTAGGC	0.597																																						ENST00000264187.6																			1	Substitution - Missense(1)	p.V937M(1)	prostate(1)	breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2809-2811)Gtg>Atg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						77	74	75					1																	236154305		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236154305C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2809G>A	1.37:g.236154305C>T	ENSP00000264187:p.Val937Met					NID1_ENST00000366595.3_Missense_Mutation_p.V804M	p.V937M	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		14	2891	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	937					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.2809G>A	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979250	0.53827	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.88741	-1.78;-2.42	5.1	4.18	0.49190	.	0.495541	0.23738	N	0.045047	D	0.92743	0.7693	M	0.76574	2.34	0.09310	N	1	D;D	0.89917	0.996;1.0	P;D	0.73708	0.799;0.981	D	0.85423	0.1144	10	0.59425	D	0.04	.	8.7947	0.34872	0.0:0.7782:0.0:0.2218	.	804;937	P14543-2;P14543	.;NID1_HUMAN	M	937;804	ENSP00000264187:V937M;ENSP00000355554:V804M	ENSP00000264187:V937M	V	-	1	0	NID1	234220928	0.619000	0.27059	0.370000	0.25965	0.619000	0.37552	1.231000	0.32624	1.285000	0.44548	0.491000	0.48974	GTG		0.597	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		19	19	0	0	0	1	0	19	19					T	236154305	C	T	236154305	3	4	158	1	0	0	0	0	1	0	0	0	10414	536	19	1	962	1	NID1	1	236154305	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08		236154305	13096316	1	2790										
DDX18	8886	broad.mit.edu	37	chr2	118582524	118582524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	aacgctttctagggatatgtTgtttgtccttctgaaaagag	10	6	2	2			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr2:118582524T>C	ENST00000263239.2	+	9	1343	c.1215T>C	c.(1213-1215)gtT>gtC	p.V405V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	405	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGGATATGTTGTTTGTCCTT	0.363																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1213-1215)gtT>gtC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							114	107	109					2																	118582524		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582524T>C	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"DEAD-boxes"	2741	protein-coding gene	gene with protein product		606355	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1215T>C	2.37:g.118582524T>C							p.V405V	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			9	1343	+			405			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1215T>C	CCDS2120.1																																																																																				0.363	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		6	62	0	0	0	1	0	6	62					C	118582524	T	C	118582524	2	2	158	1	0	0	0	0	0	0	0	1	4345	1799	63	4		4	DDX18	2	118582524	Silent	SNP	T	TCGA-WB-A81A-01A-11D-A35I-08		118582524	124616849	2	2791										
DLEC1	9940	broad.mit.edu	37	chr3	38104135	38104135	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	gtgtgccacagagagagctaGacagacttctgcttgccaga	12	10	1	5			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr3:38104135G>A	ENST00000308059.6	+	5	958	c.937G>A	c.(937-939)Gac>Aac	p.D313N	DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N|DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGAGAGCTAGACAGACTTCT	0.428																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(937-939)Gac>Aac		deleted in lung and esophageal cancer 1							123	120	121					3																	38104135		1899	4133	6032	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38104135G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.937G>A	3.37:g.38104135G>A	ENSP00000308597:p.Asp313Asn					DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N	p.D313N			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	5	958	+			313						Missense_Mutation	SNP	ENST00000308059.6	37	c.937G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157355	0.78114	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04862	3.57;3.54;3.79	4.97	4.97	0.65823	.	0.411475	0.26380	N	0.024702	T	0.08133	0.0203	L	0.46157	1.445	0.34206	D	0.673725	B;B;B;B	0.33583	0.264;0.418;0.288;0.418	B;B;B;B	0.32805	0.097;0.153;0.153;0.153	T	0.08659	-1.0711	10	0.66056	D	0.02	-15.9923	13.5922	0.61967	0.0:0.0:1.0:0.0	.	313;313;313;313	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	N	313	ENSP00000308597:D313N;ENSP00000315914:D313N;ENSP00000410427:D313N	ENSP00000308597:D313N	D	+	1	0	DLEC1	38079139	1.000000	0.71417	0.659000	0.29680	0.897000	0.52465	4.865000	0.62998	2.581000	0.87130	0.655000	0.94253	GAC		0.428	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		3	33	0	0	0	1	0	3	33					A	38104135	G	A	38104135	3	1	158	1	0	0	0	0	1	0	0	0	4552	942	33	3	955	3	DLEC1	3	38104135	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		38104135	159918295	3	2792										
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-													0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	agcaccaccaccaccacgagCaccaccaccaccaccaccac					rs3840989		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000382730.2_In_Frame_Del_p.P86del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(1315-1317)del		naked cuticle homolog 2 (Drosophila)																																				SO:0001651	inframe_deletion	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1038447_1038449delCAC	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del					NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR	p.H447del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1544_1546	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		447			His-rich.		Q96EK8|Q9BSN0	In_Frame_Del	DEL	ENST00000296849.5	37	c.1315_1317delCAC	CCDS3859.1																																																																																				0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		2	4						2	4	---	---	---	---	-	1038449	CAC	-	1038447	7	5	158	1	0	1	0	1	0	0	0	0	10442	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-WB-A81A-01A-11D-A35I-08		1038447	179876813	4	2793										
CPVL	54504	broad.mit.edu	37	chr7	29070261	29070262	+	Frame_Shift_Ins	INS	-	-	T													0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	gatttaaagatcttccaaacINSttttttttctgccttcttgt							TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr7:29070261_29070262insT	ENST00000409850.1	-	16	1897_1898	c.1251_1252insA	c.(1249-1254)aaagttfs	p.V418fs	CPVL_ENST00000265394.5_Frame_Shift_Ins_p.V418fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.V418fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	418						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCAAACTTTTTTTTCTG	0.51																																						ENST00000409850.1																			1	Deletion - Frameshift(1)	p.V418fs*24(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1249-1254)aatttgfs		carboxypeptidase, vitellogenic-like																																				SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070261_29070262insT	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1252dupA	7.37:g.29070269_29070269dupT	ENSP00000387164:p.Val418fs					CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs	p.NL417fs			Q9H3G5	CPVL_HUMAN			16	1897_1898	-			417					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Ins	INS	ENST00000409850.1	37	c.1251_1252insA	CCDS5419.1																																																																																				0.51	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		10	296						10	296	---	---	---	---	T	29070262	-	T	29070261	7	5	158	1	0	1	1	0	0	0	0	0	3835	565	20	0	186	0	CPVL	7	29070261	Frame_Shift_Ins	INS	-	TCGA-WB-A81A-01A-11D-A35I-08		29070261	130068402	5	2794										
MLL3	58508	broad.mit.edu	37	chr7	151933008	151933008	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	tccgctttcctggaaatccaGacccacggccctatgtaaca	7	15	0	1			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr7:151933008G>A	ENST00000262189.6	-	16	2881	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S888F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	888					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGAAATCCAGACCCACGGCC	0.453																																						ENST00000355193.2																			0											c.(2662-2664)tCt>tTt		lysine (K)-specific methyltransferase 2C							32	33	33					7																	151933008		2202	4298	6500	SO:0001583	missense	58508							g.chr7:151933008G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2663C>T	7.37:g.151933008G>A	ENSP00000262189:p.Ser888Phe					KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F	p.S888F							16	2881	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2663C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243507	0.58995	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.87412	-2.24;-2.25	5.1	5.1	0.69264	.	0.000000	0.42172	D	0.000746	D	0.92341	0.7570	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.93043	0.6459	10	0.87932	D	0	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	888	Q8NEZ4	MLL3_HUMAN	F	888	ENSP00000262189:S888F;ENSP00000347325:S888F	ENSP00000262189:S888F	S	-	2	0	MLL3	151563941	1.000000	0.71417	0.953000	0.39169	0.963000	0.63663	7.232000	0.78116	2.530000	0.85305	0.650000	0.86243	TCT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	51	0	0	0	1	0	6	51					A	151933008	G	A	151933008	3	1	158	1	0	0	0	0	1	0	0	0	9622	942	33	3	12248	3	MLL3	7	151933008	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08	122862747	151933008	7205655	6	2795										
PPP3R2	116443	broad.mit.edu	37	chr9	104357180	104357180	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	aagtgggagcacatctccgcCgggtaactggcctcgtttcc	12	13	1	0	rs367897972		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr9:104357180C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.P11P	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACATCTCCGCCGGGTAACTGG	0.582																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(31-33)ccG>ccA		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						49	55	53					9																	104357180		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357180C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15538G>A	9.37:g.104357180C>T						GRIN3A_ENST00000361820.3_Intron	p.P11P	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	103	-		Acute lymphoblastic leukemia(62;0.0527)	8					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.33G>A	CCDS6758.1																																																																																				0.582	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			37	46	0	0	0	1	0	37	46					T	104357180	C	T	104357180	1	4	158	0	1	0	0	0	0	0	0	0	12401	639	23	2		2	PPP3R2	9	104357180	Intron	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08		104357180	36856251	7	2796										
UNC5B	219699	broad.mit.edu	37	chr10	73050842	73050842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	tgactggtggtttccaccccGtcaactttaagacggcaagg	11	11	1	2	rs140003194		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr10:73050842G>A	ENST00000335350.6	+	9	1686	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	424					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.V424I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTTCCACCCCGTCAACTTTAA	0.602													G|||	1	0.000199681	0	0	5008	,	,		17570	0		0	False		,,,				2504	0.001					ENST00000335350.6																			1	Substitution - Missense(1)	p.V424I(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1270-1272)Gtc>Atc		unc-5 homolog B (C. elegans)		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	205	196	199		1270	3.5	0.4	10	dbSNP_134	199	0,8600		0,0,4300	no	missense	UNC5B	NM_170744.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	424/946	73050842	1,13005	2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050842G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1270G>A	10.37:g.73050842G>A	ENSP00000334329:p.Val424Ile					UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I	p.V424I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1686	+			424					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1270G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367278	0.61513	2.27E-4	0.0	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.52057	0.75;0.68	5.39	3.52	0.40303	.	0.181808	0.48767	D	0.000180	T	0.59985	0.2234	M	0.79693	2.465	0.53005	D	0.999966	D;D	0.67145	0.996;0.994	P;P	0.55055	0.767;0.534	T	0.59558	-0.7432	10	0.33141	T	0.24	-39.5081	10.9568	0.47362	0.0705:0.1302:0.7993:0.0	.	413;424	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	I	424;413	ENSP00000334329:V424I;ENSP00000362288:V413I	ENSP00000334329:V424I	V	+	1	0	UNC5B	72720848	1.000000	0.71417	0.428000	0.26697	0.069000	0.16628	6.753000	0.74904	0.647000	0.30713	0.655000	0.94253	GTC		0.602	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		5	226	0	0	0	1	0	5	226					A	73050842	G	A	73050842	3	1	158	1	0	0	0	0	1	0	0	0	16989	1145	40	1	1304	1	UNC5B	10	73050842	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		73050842	62483905	8	2797										
GLYATL1	92292	broad.mit.edu	37	chr11	58722339	58722339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	ttttgaaaaattgtgagatcGtaaactggaaacagagactc	9	5	0	3	rs145603117	byFrequency	TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr11:58722339G>A	ENST00000317391.4	+	6	623	c.283G>A	c.(283-285)Gta>Ata	p.V95I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.V126I	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	95						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TTGTGAGATCGTAAACTGGAA	0.393																																						ENST00000300079.5																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(376-378)Gta>Ata		glycine-N-acyltransferase-like 1	Glycine(DB00145)	G	ILE/VAL,ILE/VAL,ILE/VAL	0,4402		0,0,2201	72	69	70		283,283,376	-0.2	0	11	dbSNP_134	70	1,8589		0,1,4294	no	missense,missense,missense	GLYATL1	NM_001220494.1,NM_001220496.1,NM_080661.3	29,29,29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	95/303,95/303,126/334	58722339	1,12991	2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722339G>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.283G>A	11.37:g.58722339G>A	ENSP00000322223:p.Val95Ile					GLYATL1_ENST00000317391.4_Missense_Mutation_p.V95I|RP11-142C4.6_ENST00000533954.1_RNA	p.V126I	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN			5	426	+			95					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.376G>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.608505	0.00842	0.0	1.16E-4	ENSG00000166840	ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079	T;T;T	0.11277	2.79;2.79;2.79	2.37	-0.244	0.13031	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.381522	0.17855	N	0.159718	T	0.01287	0.0042	N	0.00072	-2.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42899	-0.9424	10	0.02654	T	1	.	4.685	0.12754	0.6639:0.0:0.3361:0.0	.	126;95	Q969I3-2;Q969I3	.;GLYL1_HUMAN	I	118;72;95;126	ENSP00000434652:V118I;ENSP00000322223:V95I;ENSP00000300079:V126I	ENSP00000300079:V126I	V	+	1	0	GLYATL1	58478915	0.580000	0.26733	0.024000	0.17045	0.086000	0.17979	1.109000	0.31135	-0.200000	0.10300	-1.373000	0.01185	GTA		0.393	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		3	26	0	0	0	1	0	3	26					A	58722339	G	A	58722339	3	1	158	1	0	0	0	0	1	0	0	0	6480	1145	40	1	394	1	GLYATL1	11	58722339	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		58722339	76284177	9	2798										
OR10G8	219869	broad.mit.edu	37	chr11	123900690	123900690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	acagggtcatgtcctgtgatCgctacctggccatcagttac	10	12	2	1			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr11:123900690C>T	ENST00000431524.1	+	1	394	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTCCTGTGATCGCTACCTGGC	0.562																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(361-363)Cgc>Tgc		olfactory receptor, family 10, subfamily G, member 8							153	144	147					11																	123900690		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900690C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.361C>T	11.37:g.123900690C>T	ENSP00000389072:p.Arg121Cys						p.R121C	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	394	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.361C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353775	0.61293	.	.	ENSG00000234560	ENST00000431524	T	0.77358	-1.09	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.149054	0.28671	N	0.014539	D	0.87525	0.6199	M	0.85197	2.74	0.50039	D	0.999847	D	0.89917	1.0	D	0.68353	0.957	D	0.89642	0.3863	10	0.72032	D	0.01	.	13.2906	0.60269	0.0:1.0:0.0:0.0	.	121	Q8NGN5	O10G8_HUMAN	C	121	ENSP00000389072:R121C	ENSP00000389072:R121C	R	+	1	0	OR10G8	123405900	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.093000	0.50217	1.684000	0.51022	0.650000	0.86243	CGC		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		5	106	0	0	0	1	0	5	106					T	123900690	C	T	123900690	3	4	158	1	0	0	0	0	1	0	0	0	10903	884	31	2	363	2	OR10G8	11	123900690	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08	65178351	123900690	11105826	10	2799										
PPL	5493	broad.mit.edu	37	chr16	4933851	4933851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	catggttggtcccagagtccGccacggtcatgttccgcagg	13	13	1	1			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:4933851G>A	ENST00000345988.2	-	22	4894	c.4805C>T	c.(4804-4806)gCg>gTg	p.A1602V	PPL_ENST00000590782.2_Missense_Mutation_p.A1600V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1602					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCAGAGTCCGCCACGGTCAT	0.577																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4804-4806)gCg>gTg		periplakin							118	112	114					16																	4933851		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933851G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4805C>T	16.37:g.4933851G>A	ENSP00000340510:p.Ala1602Val					PPL_ENST00000590782.2_Missense_Mutation_p.A1600V	p.A1602V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4894	-			1602					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4805C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	2.234	-0.375320	0.05034	.	.	ENSG00000118898	ENST00000345988	T	0.48522	0.81	5.71	-11.4	0.00090	.	1.157160	0.06254	N	0.692620	T	0.15176	0.0366	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45101	-0.9284	10	0.08381	T	0.77	.	15.2394	0.73455	0.8143:0.0:0.1038:0.0819	.	1602	O60437	PEPL_HUMAN	V	1602	ENSP00000340510:A1602V	ENSP00000340510:A1602V	A	-	2	0	PPL	4873852	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.247000	0.08866	-1.784000	0.01272	-0.768000	0.03414	GCG		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	146	0	0	0	1	0	4	146					A	4933851	G	A	4933851	3	1	158	1	0	0	0	0	1	0	0	0	12334	1087	38	1	469	1	PPL	16	4933851	Missense_Mutation	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		4933851	85420902	11	2800										
TPPP3	51673	broad.mit.edu	37	chr16	67424181	67424181	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	cgcaatgcccttgcccttgcCgctctcatcgaagcgctcct	8	18	1	0			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr16:67424181C>T	ENST00000564104.1	-	3	1268	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S|TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	143					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGCCCTTGCCGCTCTCATCG	0.577																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(427-429)Ggc>Agc		tubulin polymerization-promoting protein family member 3							148	122	131					16																	67424181		2198	4300	6498	SO:0001583	missense	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424181C>T	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.427G>A	16.37:g.67424181C>T	ENSP00000462435:p.Gly143Ser					TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S|TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S	p.G143S			Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	3	1268	-		Ovarian(137;0.0563)	143					Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	37	c.427G>A	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	32	5.188611	0.94923	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.47177	0.85;0.85	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83733	0.0199	10	0.72032	D	0.01	-6.7957	15.6513	0.77095	0.0:1.0:0.0:0.0	.	143	Q9BW30	TPPP3_HUMAN	S	143	ENSP00000377529:G143S;ENSP00000290942:G143S	ENSP00000290942:G143S	G	-	1	0	TPPP3	65981682	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.603000	0.82811	2.135000	0.66039	0.556000	0.70494	GGC		0.577	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		4	107	0	0	0	1	0	4	107					T	67424181	C	T	67424181	3	4	158	1	0	0	0	0	1	0	0	0	16412	652	23	2	107	2	TPPP3	16	67424181	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08	62490330	67424181	22930572	12	2801										
LRRC37B	114659	broad.mit.edu	37	chr17	30348408	30348408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	ctggggccctctgcttcttcGcagatgtcagccctgcctca	10	16	4	1			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr17:30348408G>A	ENST00000341671.7	+	1	248	c.243G>A	c.(241-243)tcG>tcA	p.S81S	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000327564.7_Silent_p.S108S|LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000394713.3_Silent_p.S81S	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	81						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S81S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTGCTTCTTCGCAGATGTCAG	0.597																																						ENST00000327564.7																			1	Substitution - coding silent(1)	p.S81S(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(322-324)tcG>tcA		leucine rich repeat containing 37B							49	58	55					17																	30348408		2202	4299	6501	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30348408G>A	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.243G>A	17.37:g.30348408G>A						LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000394713.3_Silent_p.S81S|LRRC37B_ENST00000341671.7_Silent_p.S81S	p.S108S			Q96QE4	LR37B_HUMAN			1	385	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	81					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.324G>A	CCDS32609.1																																																																																				0.597	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		47	52	0	0	0	1	0	47	52					A	30348408	G	A	30348408	2	1	158	1	0	0	0	0	0	0	0	1	8994	1074	38	1		1	LRRC37B	17	30348408	Silent	SNP	G	TCGA-WB-A81A-01A-11D-A35I-08		30348408	50846802	13	2802										
PLIN4	729359	broad.mit.edu	37	chr19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	ggcgacattcactgcccccaTgagcccagtagtgactgtgt	11	13	1	2	rs570898926		TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													T|||	1	0.000199681	0	0	5008	,	,		39657	0		0	False		,,,				2504	0.001					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2071-2073)Atg>Gtg		perilipin 4							243	261	255					19																	4511859		2151	4245	6396	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511859T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2071A>G	19.37:g.4511859T>C	ENSP00000301286:p.Met691Val						p.M691V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2070	-			691			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2071A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670420	0.29693	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	5.31	5.31	0.75309	.	1.216040	0.06290	N	0.699098	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41858	-0.9485	10	0.30854	T	0.27	-0.8619	9.4897	0.38951	0.1579:0.0:0.0:0.8421	.	691	Q96Q06	PLIN4_HUMAN	V	691	ENSP00000301286:M691V	ENSP00000301286:M691V	M	-	1	0	PLIN4	4462859	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	0.103000	0.15292	2.008000	0.58898	0.386000	0.25728	ATG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		6	521	0	0	0	1	0	6	521					C	4511859	T	C	4511859	3	2	158	1	0	0	0	0	1	0	0	0	12092	1464	51	4	2018	4	PLIN4	19	4511859	Missense_Mutation	SNP	T	TCGA-WB-A81A-01A-11D-A35I-08		4511859	54617124	14	2803										
LRRN4	164312	broad.mit.edu	37	chr20	6033401	6033401	+	Frame_Shift_Del	DEL	G	G	-													0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	tggggagggtctgcccagctGgggcgcagcaccgtcagcag							TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr20:6033401delG	ENST00000378858.4	-	2	269	c.45delC	c.(43-45)cccfs	p.P15fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	15					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCCCAGCTGGGGCGCAGCA	0.682																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(43-45)ccfs		leucine rich repeat neuronal 4							5	7	6					20																	6033401		2143	4225	6368	SO:0001589	frameshift_variant	164312					integral to membrane		g.chr20:6033401delG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.45delC	20.37:g.6033401delG	ENSP00000368135:p.Pro15fs						p.P15fs	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			2	269	-			15					A8K258|Q5JWV6|Q9H419	Frame_Shift_Del	DEL	ENST00000378858.4	37	c.45delC	CCDS13097.1																																																																																				0.682	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		2	4						2	4	---	---	---	---	-	6033401	G	-	6033401	7	5	158	1	0	1	0	1	0	0	0	0	9037	1335	47	0	2193	0	LRRN4	20	6033401	Frame_Shift_Del	DEL	G	TCGA-WB-A81A-01A-11D-A35I-08		6033401	56992119	15	2804										
TPTE	7179	broad.mit.edu	37	chr21	10934987	10934987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	ggtgtttcttatctagaaacCgcacaacttcctaaaaaaga	6	9	2	2			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr21:10934987C>T	ENST00000361285.4	-	15	1135	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R251Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	269	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTAGAAACCGCACAACTTC	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(751-753)cGg>cAg		transmembrane phosphatase with tensin homology							215	194	201					21																	10934987		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934987C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.806G>A	21.37:g.10934987C>T	ENSP00000355208:p.Arg269Gln					TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000361285.4_Missense_Mutation_p.R269Q|TPTE_ENST00000415664.2_5'UTR	p.R251Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1119	-			269			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.752G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970847	0.34754	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98617	-5.03;-5.03;-5.03	2.25	1.34	0.21922	Phosphatase tensin type (1);	0.107189	0.64402	U	0.000008	D	0.97542	0.9195	M	0.77313	2.365	0.40902	D	0.984163	D;D;P	0.55605	0.972;0.972;0.781	P;P;B	0.48400	0.576;0.576;0.389	D	0.95225	0.8337	10	0.52906	T	0.07	-10.1714	4.7758	0.13178	0.0:0.8131:0.0:0.1869	.	231;251;269	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	251;269;231	ENSP00000298232:R251Q;ENSP00000355208:R269Q;ENSP00000344441:R231Q	ENSP00000298232:R251Q	R	-	2	0	TPTE	9956858	0.995000	0.38212	0.843000	0.33291	0.148000	0.21650	3.061000	0.49963	0.517000	0.28361	0.194000	0.17425	CGG		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	194	0	0	0	1	0	6	194					T	10934987	C	T	10934987	3	4	158	1	0	0	0	0	1	0	0	0	16427	652	23	2	889	2	TPTE	21	10934987	Missense_Mutation	SNP	C	TCGA-WB-A81A-01A-11D-A35I-08		10934987	37194908	16	2805										
CLTCL1	8218	broad.mit.edu	37	chr22	19226895	19226895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.117647058823529	2	1	1.44522144522145	NA	1.44522144522145	0.333333333333333	1	0	ttcccgctgcaggctgtccaActtcaatgatgtgcaactag	9	12	1	1			TCGA-WB-A81A-01A-11D-A35I-08	TCGA-WB-A81A-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667773ea-563c-4e90-b035-2075043477d7	c9c8d211-4711-4311-991e-c54adfec6f0a	g.chr22:19226895A>G	ENST00000263200.10	-	5	770	c.698T>C	c.(697-699)gTt>gCt	p.V233A	CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	233	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGCTGTCCAACTTCAATGAT	0.488			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(697-699)gTt>gCt		clathrin, heavy chain-like 1							159	157	158					22																	19226895		1909	4117	6026	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226895A>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.698T>C	22.37:g.19226895A>G	ENSP00000445677:p.Val233Ala					CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A	p.V233A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	770	-	Colorectal(54;0.0993)		233			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.698T>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137520	0.77775	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26067	1.76;1.76;1.76	3.43	3.43	0.39272	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.64402	D	0.000015	T	0.53254	0.1785	M	0.91406	3.205	0.80722	D	1	P;P	0.45348	0.856;0.767	P;P	0.57720	0.826;0.457	T	0.63902	-0.6532	10	0.87932	D	0	-13.3594	12.0644	0.53580	1.0:0.0:0.0:0.0	.	233;233	P53675-2;P53675	.;CLH2_HUMAN	A	233	ENSP00000439662:V233A;ENSP00000445677:V233A;ENSP00000441158:V233A	ENSP00000445677:V233A	V	-	2	0	CLTCL1	17606895	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	8.159000	0.89651	1.423000	0.47198	0.482000	0.46254	GTT		0.488	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	93	0	0	0	1	0	4	93					G	19226895	A	G	19226895	3	3	158	1	0	0	0	0	1	0	0	0	3567	43	2	4	4336	4	CLTCL1	22	19226895	Missense_Mutation	SNP	A	TCGA-WB-A81A-01A-11D-A35I-08		19226895	32077671	17	2806										
CHL1	10752	broad.mit.edu	37	chr3	382547	382547	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggagatccaattgtcctcccAtgcaatcctcccaaaggcct	7	15	0	1	rs146408628		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:382547A>G	ENST00000256509.2	+	6	1098	c.456A>G	c.(454-456)ccA>ccG	p.P152P	CHL1_ENST00000397491.2_Silent_p.P152P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCCTCCCATGCAATCCTC	0.383																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(454-456)ccA>ccG		cell adhesion molecule L1-like							76	72	73					3																	382547		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:382547A>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.456A>G	3.37:g.382547A>G						CHL1_ENST00000397491.2_Silent_p.P152P	p.P152P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	6	1098	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	152			Ig-like C2-type 2.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.456A>G	CCDS2556.1																																																																																				0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		21	29	0	0	0	1	0	21	29					G	382547	A	G	382547	2	3	159	1	0	0	0	0	0	0	0	1	3349	204	8	4		4	CHL1	3	382547	Silent	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08		382547	197639883	1	2807										
TDGF1	6997	broad.mit.edu	37	chr3	46620740	46620740	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agggctgggccatcaggaatTtgctcgtccatctcggggat	14	10	2	0			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:46620740T>C	ENST00000296145.5	+	3	840	c.107T>C	c.(106-108)tTt>tCt	p.F36S	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	36					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATCAGGAATTTGCTCGTCCA	0.507																																						ENST00000296145.5																			0				cervix(2)|endometrium(1)|kidney(1)|lung(4)	8						c.(106-108)tTt>tCt		teratocarcinoma-derived growth factor 1							92	88	90					3																	46620740		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46620740T>C	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.107T>C	3.37:g.46620740T>C	ENSP00000296145:p.Phe36Ser					LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S	p.F36S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	3	840	+			36					Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.107T>C	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544905	0.27652	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.63255	-0.03;-0.02	3.94	0.32	0.15878	.	1.222030	0.05956	N	0.639745	T	0.39253	0.1071	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.21109	-1.0255	10	0.30078	T	0.28	.	5.8257	0.18552	0.0:0.3484:0.0:0.6516	.	36	P13385	TDGF1_HUMAN	S	20;36	ENSP00000446375:F20S;ENSP00000296145:F36S	ENSP00000296145:F36S	F	+	2	0	AC104304.1	46595744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.118000	0.15605	0.045000	0.15804	0.533000	0.62120	TTT		0.507	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		9	47	0	0	0	1	0	9	47					C	46620740	T	C	46620740	3	2	159	1	0	0	0	0	1	0	0	0	15723	1841	64	4	117	4	TDGF1	3	46620740	Missense_Mutation	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08	46238193	46620740	151401690	2	2808										
DIRC2	84925	broad.mit.edu	37	chr3	122545710	122545710	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgtaatgaatgcagcaccAtttctctctacgacgtggtt	8	10	2	1	rs572207932		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:122545710A>G	ENST00000261038.5	+	3	899	c.501A>G	c.(499-501)ccA>ccG	p.P167P		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	167					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATGCAGCACCATTTCTCTCTA	0.413													A|||	1	0.000199681	0	0	5008	,	,		17648	0		0	False		,,,				2504	0.001					ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(499-501)ccA>ccG		disrupted in renal carcinoma 2							129	128	128					3																	122545710		2203	4300	6503	SO:0001819	synonymous_variant	84925				transport	integral to membrane		g.chr3:122545710A>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.501A>G	3.37:g.122545710A>G							p.P167P	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	899	+			167					A8K561|Q8NBX9	Silent	SNP	ENST00000261038.5	37	c.501A>G	CCDS3018.1																																																																																				0.413	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		10	68	0	0	0	1	0	10	68					G	122545710	A	G	122545710	2	3	159	1	0	0	0	0	0	0	0	1	4534	204	8	4		4	DIRC2	3	122545710	Silent	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08	75924970	122545710	75476720	3	2809										
MAP1B	4131	broad.mit.edu	37	chr5	71491183	71491184	+	Frame_Shift_Ins	INS	-	-	CCTAC													0	0	1	0	0	0	1	1	0	ctaaaaaggaggacaaaacaINScctatcaagaaggaggaaaa							TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr5:71491183_71491184insCCTAC	ENST00000296755.7	+	5	2299_2300	c.2001_2002insCCTAC	c.(2002-2004)cctfs	p.-668fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B						axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGACAAAACACCTATCAAGaa	0.366																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1999-2004)acctatfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491183_71491184insCCTAC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	Exception_encountered	5.37:g.71491183_71491184insCCTAC	ENSP00000296755:p.Pro668fs						p.Y668fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2299_2300	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	668			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.2001_2002insCCTAC	CCDS4012.1																																																																																				0.366	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	9						4	9	---	---	---	---	CCTAC	71491184	-	CCTAC	71491183	7	5	159	1	0	1	1	0	0	0	0	0	9228	146	6	0	2019	0	MAP1B	5	71491183	Frame_Shift_Ins	INS	-	TCGA-WB-A81D-01A-11D-A35I-08		71491183	109424077	4	2810										
PCDHB12	56124	broad.mit.edu	37	chr5	140589813	140589813	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtgctggtctccgacgtcaAtgacaacgcccccgccttca	9	17	3	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr5:140589813A>G	ENST00000239450.2	+	1	1523	c.1334A>G	c.(1333-1335)aAt>aGt	p.N445S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGACGTCAATGACAACGCC	0.597																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1333-1335)aAt>aGt									109	103	105					5																	140589813		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589813A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1334A>G	5.37:g.140589813A>G	ENSP00000239450:p.Asn445Ser					PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S	p.N445S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1523	+			445			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1334A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626559	0.46840	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.70749	-0.51;-0.51	3.83	3.83	0.44106	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.88474	0.6446	H	0.97158	3.95	0.40741	D	0.982837	D	0.89917	1.0	D	0.91635	0.999	D	0.91964	0.5581	9	0.87932	D	0	.	12.6166	0.56580	1.0:0.0:0.0:0.0	.	445	Q9Y5F1	PCDBC_HUMAN	S	108;445;65	ENSP00000440199:N108S;ENSP00000239450:N445S	ENSP00000239450:N445S	N	+	2	0	PCDHB12	140569997	1.000000	0.71417	0.815000	0.32552	0.028000	0.11728	9.254000	0.95512	1.515000	0.48885	0.397000	0.26171	AAT		0.597	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		6	81	0	0	0	1	0	6	81					G	140589813	A	G	140589813	3	3	159	1	0	0	0	0	1	0	0	0	11537	101	4	4	1336	4	PCDHB12	5	140589813	Missense_Mutation	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08	69098630	140589813	40325447	5	2811										
FNDC1	84624	broad.mit.edu	37	chr6	159647583	159647583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcgctgcatcttgggatgCgctaccagagactgagggga	15	9	1	2	rs201538256		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr6:159647583C>T	ENST00000297267.9	+	9	1351	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	384	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTTGGGATGCGCTACCAGAG	0.473																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1150-1152)gCg>gTg		fibronectin type III domain containing 1		C	VAL/ALA	0,3824		0,0,1912	100	96	98		1151	4.4	0	6		98	1,8257		0,1,4128	yes	missense	FNDC1	NM_032532.2	64	0,1,6040	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	384/1895	159647583	1,12081	1912	4129	6041	SO:0001583	missense	84624					extracellular region		g.chr6:159647583C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1151C>T	6.37:g.159647583C>T	ENSP00000297267:p.Ala384Val					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V	p.A384V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	9	1351	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	384			Fibronectin type-III 4.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1151C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886221	0.51908	0.0	1.21E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.58940	0.3;4.01	5.3	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.279587	0.34777	N	0.003696	T	0.41442	0.1159	L	0.50333	1.59	0.23577	N	0.997376	P;D	0.53462	0.951;0.96	P;P	0.48704	0.451;0.587	T	0.28522	-1.0041	10	0.49607	T	0.09	-5.1754	9.4985	0.39004	0.1408:0.7865:0.0:0.0726	.	384;384	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	V	384	ENSP00000297267:A384V;ENSP00000342460:A384V	ENSP00000297267:A384V	A	+	2	0	FNDC1	159567571	0.571000	0.26659	0.001000	0.08648	0.739000	0.42172	3.165000	0.50778	1.362000	0.46000	0.655000	0.94253	GCG		0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	10	0	0	0	1	0	3	10					T	159647583	C	T	159647583	3	4	159	1	0	0	0	0	1	0	0	0	5968	768	27	1	1185	1	FNDC1	6	159647583	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		159647583	11467484	6	2812										
PARD3	56288	broad.mit.edu	37	chr10	34408631	34408631	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tctgcacctccacggacaccGagtgtcgcccgctctgcgtc	10	18	2	0			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:34408631G>A	ENST00000374789.3	-	24	3912	c.3587C>T	c.(3586-3588)tCg>tTg	p.S1196L	PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L|PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1196					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACGGACACCGAGTGTCGCCC	0.612																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(3586-3588)tCg>tTg		par-3 family cell polarity regulator							25	23	23					10																	34408631		2202	4297	6499	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34408631G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3587C>T	10.37:g.34408631G>A	ENSP00000363921:p.Ser1196Leu					PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L	p.S1196L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			24	3912	-		Breast(68;0.0707)	1196					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3587C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502000	0.96371	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.16897	2.39;2.32;2.46;2.46;2.37;2.31;2.32;2.4	5.4	5.4	0.78164	.	0.133895	0.52532	D	0.000071	T	0.40498	0.1119	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.83275	0.996;0.975;0.996;0.996;0.996;0.996;0.996;0.99	T	0.14035	-1.0487	10	0.72032	D	0.01	.	19.172	0.93581	0.0:0.0:1.0:0.0	.	1084;1106;1113;1150;1180;1159;1193;1196	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	L	1180;1106;1196;1193;1159;1084;1150;1136	ENSP00000443147:S1180L;ENSP00000440857:S1106L;ENSP00000363921:S1196L;ENSP00000363920:S1193L;ENSP00000340591:S1159L;ENSP00000363926:S1084L;ENSP00000311986:S1150L;ENSP00000363922:S1136L	ENSP00000340591:S1159L	S	-	2	0	PARD3	34448637	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	9.467000	0.97671	2.541000	0.85698	0.650000	0.86243	TCG		0.612	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		10	22	0	0	0	1	0	10	22					A	34408631	G	A	34408631	3	1	159	1	0	0	0	0	1	0	0	0	11443	1059	37	2	491	2	PARD3	10	34408631	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08		34408631	101126116	7	2813										
RHOBTB1	9886	broad.mit.edu	37	chr10	62648781	62648781	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttaggtgggatttccagaaTtgcaggtgcctgcgggaaat	14	6	0	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:62648781T>C	ENST00000337910.5	-	6	982	c.645A>G	c.(643-645)caA>caG	p.Q215Q	RHOBTB1_ENST00000357917.4_Silent_p.Q215Q	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	215					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTTCCAGAATTGCAGGTGCC	0.478																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(643-645)caA>caG		Rho-related BTB domain containing 1							168	179	176					10																	62648781		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648781T>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.645A>G	10.37:g.62648781T>C						RHOBTB1_ENST00000357917.4_Silent_p.Q215Q	p.Q215Q	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	982	-	Prostate(12;0.0112)		215						Silent	SNP	ENST00000337910.5	37	c.645A>G	CCDS7261.1																																																																																				0.478	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			14	153	0	0	0	1	0	14	153					C	62648781	T	C	62648781	2	2	159	1	0	0	0	0	0	0	0	1	13333	1490	52	4		4	RHOBTB1	10	62648781	Silent	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08	28240150	62648781	72885966	8	2814										
RBP4	5950	broad.mit.edu	37	chr10	95360770	95360770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgccgccaacagcaagagcgCccacacccacttcatcttgc	7	19	2	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:95360770C>T	ENST00000371467.1	-	2	335	c.16G>A	c.(16-18)Gcg>Acg	p.A6T	RBP4_ENST00000371469.2_Intron|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.A6T			P02753	RET4_HUMAN	retinol binding protein 4, plasma	6					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGCAAGAGCGCCCACACCCAC	0.697																																					Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(16-18)Gcg>Acg		retinol binding protein 4, plasma	Vitamin A(DB00162)						25	29	28					10																	95360770		2164	4236	6400	SO:0001583	missense	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95360770C>T	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"Lipocalins"	9922	protein-coding gene	gene with protein product		180250	"retinol-binding protein 4, plasma"				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.16G>A	10.37:g.95360770C>T	ENSP00000360522:p.Ala6Thr					RBP4_ENST00000371464.3_Missense_Mutation_p.A6T|RBP4_ENST00000371469.2_Intron|FFAR4_ENST00000604414.1_Intron	p.A6T			P02753	RET4_HUMAN			2	335	-		Colorectal(252;0.122)	6					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	c.16G>A	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000138207	ENST00000371464;ENST00000371467	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	.	0.647217	0.16610	N	0.206946	T	0.60818	0.2298	L	0.36672	1.1	0.27791	N	0.942836	B	0.20550	0.046	B	0.15870	0.014	T	0.50508	-0.8820	10	0.24483	T	0.36	-12.1705	14.6363	0.68692	0.0:0.8429:0.1571:0.0	.	6	P02753	RET4_HUMAN	T	6	ENSP00000360519:A6T;ENSP00000360522:A6T	ENSP00000360519:A6T	A	-	1	0	RBP4	95350760	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	1.337000	0.33862	2.209000	0.71365	0.449000	0.29647	GCG		0.697	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		17	34	0	0	0	1	0	17	34					T	95360770	C	T	95360770	3	4	159	1	0	0	0	0	1	0	0	0	13158	739	26	3	609	3	RBP4	10	95360770	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08	32711989	95360770	40173977	9	2815										
CRTAC1	55118	broad.mit.edu	37	chr10	99655137	99655137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaggccccaaaccgggtgcGtggcaccactcgcagccagt	12	15	0	0	rs576681356		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:99655137G>A	ENST00000370597.3	-	11	1706	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	451						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AACCGGGTGCGTGGCACCACT	0.632																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1351-1353)Cgc>Tgc		cartilage acidic protein 1							64	59	61					10																	99655137		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655137G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1351C>T	10.37:g.99655137G>A	ENSP00000359629:p.Arg451Cys					CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C	p.R451C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	11	1706	-		Colorectal(252;0.24)	451					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1351C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642809	0.67244	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.74526	1.39;-0.85;1.38;-0.01;-0.01	5.06	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.994	P;P;P	0.55785	0.784;0.642;0.613	T	0.82508	-0.0422	10	0.38643	T	0.18	-13.1077	14.9568	0.71120	0.0:0.0:0.8561:0.1439	.	451;451;347	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	C	347;451;451;443;451	ENSP00000408445:R347C;ENSP00000359629:R451C;ENSP00000298819:R451C;ENSP00000310810:R443C;ENSP00000359623:R451C	ENSP00000298819:R451C	R	-	1	0	CRTAC1	99645127	1.000000	0.71417	0.496000	0.27539	0.958000	0.62258	3.896000	0.56266	1.113000	0.41760	0.462000	0.41574	CGC		0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		20	23	0	0	0	1	0	20	23					A	99655137	G	A	99655137	3	1	159	1	0	0	0	0	1	0	0	0	3896	1145	40	1	654	1	CRTAC1	10	99655137	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08	4294367	99655137	35879610	10	2816										
MARS	4141	broad.mit.edu	37	chr12	57908512	57908512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcccaaccaagagctgggatGtttgtgtctaagttctttgg	11	8	2	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr12:57908512G>A	ENST00000262027.5	+	16	2111	c.1977G>A	c.(1975-1977)atG>atA	p.M659I	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.M425I	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	659					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAGCTGGGATGTTTGTGTCTA	0.507																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1975-1977)atG>atA		methionyl-tRNA synthetase	L-Methionine(DB00134)						232	235	234					12																	57908512		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57908512G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1977G>A	12.37:g.57908512G>A	ENSP00000262027:p.Met659Ile					MARS_ENST00000315473.5_Missense_Mutation_p.M425I	p.M659I	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		16	2111	+			659					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1977G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434700	0.43224	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000552914	T;T;T	0.41400	1.0;1.0;1.0	5.02	5.02	0.67125	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.040522	0.85682	D	0.000000	T	0.43853	0.1266	M	0.72894	2.215	0.58432	D	0.999999	B;B	0.15719	0.005;0.014	B;B	0.17098	0.01;0.017	T	0.32025	-0.9922	10	0.38643	T	0.18	-25.2411	13.9091	0.63855	0.0:0.1538:0.8462:0.0	.	425;659	A6NC17;P56192	.;SYMC_HUMAN	I	659;425;15	ENSP00000262027:M659I;ENSP00000314653:M425I;ENSP00000449787:M15I	ENSP00000262027:M659I	M	+	3	0	MARS	56194779	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.037000	0.76531	2.767000	0.95098	0.591000	0.81541	ATG		0.507	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		8	243	0	0	0	1	0	8	243					A	57908512	G	A	57908512	3	1	159	1	0	0	0	0	1	0	0	0	9316	1377	48	3	2039	3	MARS	12	57908512	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08		57908512	75943383	11	2817										
FAM48A	55578	broad.mit.edu	37	chr13	37598536	37598536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgggggtcgatgttttacaCccttccccaataccgaagac	10	12	0	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr13:37598536C>T	ENST00000350612.6	-	18	1593	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422D|SUPT20H_ENST00000360252.4_Missense_Mutation_p.G459D|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459D|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458D	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	458					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ATGTTTTACACCCTTCCCCAA	0.378																																						ENST00000360252.4																			0											c.(1375-1377)gGt>gAt		suppressor of Ty 20 homolog (S. cerevisiae)							78	73	75					13																	37598536		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37598536C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1373G>A	13.37:g.37598536C>T	ENSP00000218894:p.Gly458Asp					SUPT20H_ENST00000350612.6_Missense_Mutation_p.G458D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459D|SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422D|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458D|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459D	p.G459D	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					18	1623	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.1376G>A	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.255850|4.255850	0.80135|0.80135	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180|ENST00000469488	T;T;T;T;T;T|.	0.57752|.	0.62;0.52;1.16;0.62;0.62;0.38|.	5.87|5.87	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77870|0.77870	0.4195|0.4195	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D|.	0.64830|.	0.967;0.967;0.992;0.982;0.989;0.994;0.989|.	P;P;D;P;P;P;P|.	0.63597|.	0.792;0.792;0.916;0.798;0.869;0.835;0.869|.	T|T	0.79676|0.79676	-0.1704|-0.1704	10|5	0.46703|.	T|.	0.11|.	-10.1248|-10.1248	17.1383|17.1383	0.86745|0.86745	0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0	.|.	422;458;458;459;459;458;458|.	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46|.	.;.;.;.;.;FA48A_HUMAN;.|.	D|M	459;458;458;459;458;459;422|66	ENSP00000353388:G459D;ENSP00000417510:G458D;ENSP00000218894:G458D;ENSP00000348512:G459D;ENSP00000419754:G459D;ENSP00000439000:G422D|.	ENSP00000218894:G458D|.	G|V	-|-	2|1	0|0	FAM48A|FAM48A	36496536|36496536	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.750000|0.750000	0.42670|0.42670	7.056000|7.056000	0.76662|0.76662	1.476000|1.476000	0.48215|0.48215	0.585000|0.585000	0.79938|0.79938	GGT|GTG		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		4	39	0	0	0	1	0	4	39					T	37598536	C	T	37598536	3	4	159	1	0	0	0	0	1	0	0	0	5572	507	18	3	1002	3	FAM48A	13	37598536	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		37598536	77571342	12	2818										
CACNA1H	8912	broad.mit.edu	37	chr16	1261233	1261233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatatcatcactcaggcccaTtgggaacatcgtcctcatct	7	13	5	0			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:1261233T>C	ENST00000348261.5	+	22	4537	c.4289T>C	c.(4288-4290)aTt>aCt	p.I1430T	CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1430T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1430					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCAGGCCCATTGGGAACATC	0.602																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4288-4290)aTt>aCt		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						107	122	117					16																	1261233		2168	4253	6421	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261233T>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4289T>C	16.37:g.1261233T>C	ENSP00000334198:p.Ile1430Thr					CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1430T	p.I1430T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			22	4537	+		Hepatocellular(780;0.00369)	1430					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4289T>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886908	0.72410	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98849	-5.18;-5.18	4.35	4.35	0.52113	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	M	0.91459	3.21	0.53005	D	0.999965	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.938;0.998	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.991;0.995	D	0.99123	1.0850	10	0.87932	D	0	.	13.1374	0.59417	0.0:0.0:0.0:1.0	.	171;171;171;1430;1430	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1430	ENSP00000334198:I1430T;ENSP00000351401:I1430T	ENSP00000334198:I1430T	I	+	2	0	CACNA1H	1201234	1.000000	0.71417	0.996000	0.52242	0.567000	0.35839	7.607000	0.82883	1.953000	0.56701	0.402000	0.26972	ATT		0.602	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	72	0	0	0	1	0	4	72					C	1261233	T	C	1261233	3	2	159	1	0	0	0	0	1	0	0	0	2545	1493	52	4	4371	4	CACNA1H	16	1261233	Missense_Mutation	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08		1261233	89093520	13	2819										
TSC2	7249	broad.mit.edu	37	chr16	2131703	2131703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acgccctcatggcggctgagCgcttcaaggagcaccgggac	14	14	2	1	rs137854353		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:2131703C>T	ENST00000219476.3	+	31	4348	c.3718C>T	c.(3718-3720)Cgc>Tgc	p.R1240C	TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C|TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1240			R -> W (in TSC2). {ECO:0000269|PubMed:8824881}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGGCTGAGCGCTTCAAGGA	0.627			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3718-3720)Cgc>Tgc		tuberous sclerosis 2							75	62	67					16																	2131703		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2131703C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3718C>T	16.37:g.2131703C>T	ENSP00000219476:p.Arg1240Cys					TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C|TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C	p.R1240C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			31	4348	+		Hepatocellular(780;0.0202)	1240		R -> W (in TSC2).			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3718C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142197	0.77775	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.90261	-2.56;-2.59;-2.64;-2.62;-2.54	4.7	4.7	0.59300	.	0.193367	0.44285	D	0.000476	D	0.93539	0.7938	L	0.57536	1.79	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.943;0.975;0.983;0.975;0.997;0.988	D	0.93512	0.6854	10	0.54805	T	0.06	-29.1426	12.7331	0.57208	0.1643:0.8357:0.0:0.0	.	1148;1160;1240;1196;1196;1240	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	C	1240;1197;1197;1160;1148;1240	ENSP00000219476:R1240C;ENSP00000248099:R1197C;ENSP00000399232:R1160C;ENSP00000371978:R1148C;ENSP00000344383:R1240C	ENSP00000219476:R1240C	R	+	1	0	TSC2	2071704	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.493000	0.60341	2.174000	0.68829	0.561000	0.74099	CGC		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		4	54	0	0	0	1	0	4	54					T	2131703	C	T	2131703	3	4	159	1	0	0	0	0	1	0	0	0	16603	768	27	1	3836	1	TSC2	16	2131703	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08	870470	2131703	88223050	14	2820										
FAM18B2	201158	broad.mit.edu	37	chr17	15457141	15457141	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaaaaacgatgctactggaTgtctgaaaaccaaaacacaa	8	8	1	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr17:15457141T>A	ENST00000225576.3	-	3	193	c.98A>T	c.(97-99)cAt>cTt	p.H33L	TVP23C_ENST00000428082.2_Missense_Mutation_p.H33L|TVP23C_ENST00000438826.3_Missense_Mutation_p.H33L|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.H33L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Missense_Mutation_p.H33L	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	33						integral component of membrane (GO:0016021)											TGCTACTGGATGTCTGAAAAC	0.378																																						ENST00000522212.2																			0											c.(97-99)cAt>cTt									187	182	184					17																	15457141		2203	4297	6500	SO:0001583	missense	100533496							g.chr17:15457141T>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B2"	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.98A>T	17.37:g.15457141T>A	ENSP00000225576:p.His33Leu					TVP23C_ENST00000225576.3_Missense_Mutation_p.H33L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Missense_Mutation_p.H33L|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.H33L|TVP23C_ENST00000428082.2_Missense_Mutation_p.H33L	p.H33L	NM_001204478.1	NP_001191407.1					3	210	-								Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.98A>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.502748	0.85176	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.89968	3.075	0.80722	D	1	P;P;D	0.56746	0.939;0.939;0.977	P;P;D	0.65233	0.856;0.783;0.933	T	0.78497	-0.2181	10	0.87932	D	0	.	13.018	0.58768	0.0:0.0:0.0:1.0	.	33;33;33	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	L	33	ENSP00000429865:H33L;ENSP00000225576:H33L;ENSP00000406387:H33L;ENSP00000413355:H33L	ENSP00000225576:H33L	H	-	2	0	RP11-726O12.1;FAM18B2	15397866	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	7.924000	0.87555	1.788000	0.52465	0.443000	0.29094	CAT		0.378	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		32	75	0	0	0	1	0	32	75					A	15457141	T	A	15457141	3	1	159	1	0	0	0	0	1	0	0	0	5520	1464	51	5	902	5	FAM18B2	17	15457141	Missense_Mutation	SNP	T	TCGA-WB-A81D-01A-11D-A35I-08		15457141	65738069	15	2821										
FECH	2235	broad.mit.edu	37	chr18	55253811	55253811	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	tcgcggagcaggacgcccgcGgcgcgcagggccgcagccat							TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:55253811delG	ENST00000262093.5	-	1	193	c.42delC	c.(40-42)gccfs	p.A15fs	FECH_ENST00000382873.3_Frame_Shift_Del_p.A15fs|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	15					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGACGCCCGCGGCGCGCAGGG	0.756																																						ENST00000262093.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(40-42)gcfs		ferrochelatase							3	4	3					18																	55253811		1678	3430	5108	SO:0001589	frameshift_variant	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55253811delG	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.42delC	18.37:g.55253811delG	ENSP00000262093:p.Ala15fs					FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Frame_Shift_Del_p.A15fs	p.A15fs	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN			1	193	-		Colorectal(73;0.227)	15					A8KA72|Q8IXN1|Q8NAN0	Frame_Shift_Del	DEL	ENST00000262093.5	37	c.42delC	CCDS11964.1																																																																																				0.756	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			2	4						2	4	---	---	---	---	-	55253811	G	-	55253811	7	5	159	1	0	1	0	1	0	0	0	0	5808	1103	39	0	1291	0	FECH	18	55253811	Frame_Shift_Del	DEL	G	TCGA-WB-A81D-01A-11D-A35I-08		55253811	22823437	16	2822										
ATP8B1	5205	broad.mit.edu	37	chr18	55338716	55338716	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttacatccagggcatcctgtGtttcttgcttagtaggattc	9	9	1	0			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:55338716G>C	ENST00000283684.4	-	16	1915	c.1916C>G	c.(1915-1917)aCa>aGa	p.T639R	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T639R|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	639					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGCATCCTGTGTTTCTTGCTT	0.398																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(1915-1917)aCa>aGa		ATPase, aminophospholipid transporter, class I, type 8B, member 1							159	137	144					18																	55338716		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55338716G>C	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1916C>G	18.37:g.55338716G>C	ENSP00000283684:p.Thr639Arg					RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T639R|RP11-35G9.3_ENST00000599199.1_RNA	p.T639R	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			17	2035	-		Colorectal(73;0.229)	639					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1916C>G	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720450	0.89205	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70282	-0.47;-0.47	5.73	5.73	0.89815	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.049574	0.85682	D	0.000000	D	0.90212	0.6940	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92939	0.6370	10	0.87932	D	0	.	19.5004	0.95091	0.0:0.0:1.0:0.0	.	639	O43520	AT8B1_HUMAN	R	639	ENSP00000283684:T639R;ENSP00000445359:T639R	ENSP00000283684:T639R	T	-	2	0	ATP8B1	53489714	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	9.685000	0.98661	2.698000	0.92095	0.655000	0.94253	ACA		0.398	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		23	56	0	0	0	1	0	23	56					C	55338716	G	C	55338716	3	2	159	1	0	0	0	0	1	0	0	0	1194	1377	48	5	1887	5	ATP8B1	18	55338716	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08	84905	55338716	22738532	17	2823										
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	10	12	1	0			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166	157	160					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		4	132	0	0	0	1	0	4	132					T	42132119	C	T	42132119	3	4	159	1	0	0	0	0	1	0	0	0	3194	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		42132119	16996864	18	2824										
CHMP4B	128866	broad.mit.edu	37	chr20	32436406	32436406	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacaccgaggtgctcaagaaCatgggctatgccgccaaggc	12	12	1	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr20:32436406C>G	ENST00000217402.2	+	2	489	c.324C>G	c.(322-324)aaC>aaG	p.N108K		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	108					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGCTCAAGAACATGGGCTATG	0.602																																						ENST00000217402.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(322-324)aaC>aaG		charged multivesicular body protein 4B							118	74	89					20																	32436406		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32436406C>G	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"Charged multivesicular body proteins"	16171	protein-coding gene	gene with protein product		610897	"chromosome 20 open reading frame 178", "chromatin modifying protein 4B"	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.324C>G	20.37:g.32436406C>G	ENSP00000217402:p.Asn108Lys						p.N108K	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN			2	489	+			108					E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.324C>G	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163922	0.78226	.	.	ENSG00000101421	ENST00000217402	T	0.71579	-0.58	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	M	0.83692	2.655	0.58432	D	0.999995	P	0.42993	0.797	P	0.52424	0.698	T	0.81682	-0.0822	10	0.51188	T	0.08	-24.22	12.2451	0.54566	0.0:0.8775:0.0:0.1225	.	108	Q9H444	CHM4B_HUMAN	K	108	ENSP00000217402:N108K	ENSP00000217402:N108K	N	+	3	2	CHMP4B	31900067	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.611000	0.24268	2.570000	0.86706	0.467000	0.42956	AAC		0.602	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			5	31	0	0	0	1	0	5	31					G	32436406	C	G	32436406	3	3	159	1	0	0	0	0	1	0	0	0	3357	477	17	5	330	5	CHMP4B	20	32436406	Missense_Mutation	SNP	C	TCGA-WB-A81D-01A-11D-A35I-08		32436406	30589114	19	2825										
ODZ1	10178	broad.mit.edu	37	chrX	123663783	123663783	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aactgacattcactcccactAgaggagttccatctatggcc	7	13	2	2			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chrX:123663783A>G	ENST00000371130.3	-	16	2765	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	TENM1_ENST00000422452.2_Missense_Mutation_p.L901P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	901					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACTCCCACTAGAGGAGTTCC	0.473																																						ENST00000422452.2																			0											c.(2701-2703)cTa>cCa		teneurin transmembrane protein 1							127	98	108					X																	123663783		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123663783A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2702T>C	X.37:g.123663783A>G	ENSP00000360171:p.Leu901Pro					TENM1_ENST00000371130.3_Missense_Mutation_p.L901P	p.L901P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					16	2765	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2702T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508003	0.85282	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.21361	2.01;2.01	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.52075	0.1712	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.59611	-0.7422	10	0.87932	D	0	.	15.3026	0.73966	1.0:0.0:0.0:0.0	.	900;901;901	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	901	ENSP00000360171:L901P;ENSP00000403954:L901P	ENSP00000360171:L901P	L	-	2	0	ODZ1	123491464	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	9.339000	0.96797	1.997000	0.58415	0.481000	0.45027	CTA		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		3	66	0	0	0	1	0	3	66					G	123663783	A	G	123663783	3	3	159	1	0	0	0	0	1	0	0	0	10834	420	15	4	5564	4	ODZ1	23	123663783	Missense_Mutation	SNP	A	TCGA-WB-A81D-01A-11D-A35I-08		123663783	31606777	20	2826										
RBMX	27316	broad.mit.edu	37	chrX	135961213	135961213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggctgcatccttagcgtctGctgggctttcaaaggtgaca	12	10	2	1			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chrX:135961213G>T	ENST00000320676.7	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	60	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(178-180)gCa>gAa		RNA binding motif protein, X-linked							155	133	140					X																	135961213		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961213G>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.179C>A	X.37:g.135961213G>T	ENSP00000359645:p.Ala60Glu					RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E	p.A60E			P38159	HNRPG_HUMAN			3	333	-	Acute lymphoblastic leukemia(192;0.000127)		60			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.179C>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	4.649	0.120559	0.08881	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.83506	-1.73;-1.73	4.57	3.71	0.42584	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.232870	0.33834	U	0.004510	T	0.64461	0.2600	N	0.02865	-0.47	0.80722	D	1	B;B;B	0.23185	0.081;0.005;0.001	B;B;B	0.31869	0.137;0.01;0.005	T	0.56492	-0.7970	10	0.32370	T	0.25	.	9.3856	0.38340	0.0:0.1534:0.684:0.1626	.	60;60;47	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	E	60;60;47	ENSP00000411989:A60E;ENSP00000359645:A60E	ENSP00000359645:A60E	A	-	2	0	RBMX	135788879	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.164000	0.64954	0.746000	0.32786	-0.282000	0.10007	GCA		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		4	103	1	0	0.150653	1	0.150653	4	103					T	135961213	G	T	135961213	3	4	159	1	0	0	0	0	1	0	0	0	13151	1319	46	5	1079	5	RBMX	23	135961213	Missense_Mutation	SNP	G	TCGA-WB-A81D-01A-11D-A35I-08	12297430	135961213	19309347	21	2827										
PADI3	51702	broad.mit.edu	37	chr1	17575683	17575683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ctggagcatcccaccagcgcGgtgtgtgtggctggcgtgga	17	11	0	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr1:17575683G>A	ENST00000375460.3	+	1	91	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	17					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCACCAGCGCGGTGTGTGTGG	0.607																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(49-51)gcG>gcA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						159	136	144					1																	17575683		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575683G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"Peptidyl arginine deiminases"	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.51G>A	1.37:g.17575683G>A							p.A17A	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	91	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	17					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.51G>A	CCDS179.1																																																																																				0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			3	45	0	0	0	1	0	3	45					A	17575683	G	A	17575683	2	1	160	1	0	0	0	0	0	0	0	1	11379	1103	39	2		2	PADI3	1	17575683	Silent	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		17575683	231674938	1	2828										
GAD1	2571	broad.mit.edu	37	chr2	171675133	171675133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	gaccccatcttcgtccgcaaCctcctcgaacgcgggagcgg	11	17	1	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:171675133C>T	ENST00000358196.3	+	2	582	c.32C>T	c.(31-33)aCc>aTc	p.T11I	GAD1_ENST00000375272.1_Missense_Mutation_p.T11I|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I|GAD1_ENST00000429023.1_3'UTR|AC007405.8_ENST00000451730.1_RNA|AC007405.8_ENST00000455988.1_RNA|AC007405.8_ENST00000418106.1_RNA	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	11					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TCGTCCGCAACCTCCTCGAAC	0.607																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(31-33)aCc>aTc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						83	84	83					2																	171675133		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171675133C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.32C>T	2.37:g.171675133C>T	ENSP00000350928:p.Thr11Ile					GAD1_ENST00000375272.1_Missense_Mutation_p.T11I|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I	p.T11I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			2	582	+			11					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.32C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694255	0.68386	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T;T	0.80304	-1.16;-1.36;2.3;0.43;0.43;-1.14;-1.14	5.77	5.77	0.91146	.	0.400083	0.24703	N	0.036294	T	0.68504	0.3008	N	0.08118	0	0.34169	D	0.669555	B;B	0.23058	0.079;0.039	B;B	0.25987	0.029;0.065	T	0.73193	-0.4060	10	0.66056	D	0.02	-1.6538	17.4922	0.87707	0.0:1.0:0.0:0.0	.	11;11	Q99259;Q99259-3	DCE1_HUMAN;.	I	11	ENSP00000402366:T11I;ENSP00000394948:T11I;ENSP00000350928:T11I;ENSP00000364421:T11I;ENSP00000341167:T11I;ENSP00000405917:T11I;ENSP00000394255:T11I	ENSP00000341167:T11I	T	+	2	0	GAD1	171383379	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.545000	0.60698	2.724000	0.93272	0.561000	0.74099	ACC		0.607	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			19	81	0	0	0	1	0	19	81					T	171675133	C	T	171675133	3	4	160	1	0	0	0	0	1	0	0	0	6179	507	18	3	34	3	GAD1	2	171675133	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		171675133	71524240	2	2829										
ITGAV	3685	broad.mit.edu	37	chr2	187455082	187455082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ggcgatggcttttccgccgcGgcgacggctgcgcctcggtc	16	15	0	0	rs572317414	byFrequency	TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:187455082G>A	ENST00000261023.3	+	1	291	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	6					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTCCGCCGCGGCGACGGCTG	0.741																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(16-18)cGg>cAg		integrin, alpha V							15	18	17					2																	187455082		2193	4287	6480	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455082G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.17G>A	2.37:g.187455082G>A	ENSP00000261023:p.Arg6Gln					ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q	p.R6Q	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	291	+			6					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.17G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723975	0.48728	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	T;T	0.68181	-0.31;-0.29	3.85	-1.38	0.09027	.	1.333680	0.05192	N	0.503212	T	0.51805	0.1696	N	0.24115	0.695	0.09310	N	0.999996	B;B	0.27264	0.173;0.108	B;B	0.22880	0.042;0.01	T	0.33085	-0.9882	10	0.27082	T	0.32	.	12.1412	0.53998	0.0:0.6239:0.2542:0.1219	.	6;6	P06756-2;P06756	.;ITAV_HUMAN	Q	6	ENSP00000261023:R6Q;ENSP00000364042:R6Q	ENSP00000261023:R6Q	R	+	2	0	ITGAV	187163327	0.001000	0.12720	0.000000	0.03702	0.342000	0.28953	0.147000	0.16202	-0.445000	0.07159	0.563000	0.77884	CGG		0.741	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		6	40	0	0	0	1	0	6	40					A	187455082	G	A	187455082	3	1	160	1	0	0	0	0	1	0	0	0	7888	1116	39	2	19	2	ITGAV	2	187455082	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	15779949	187455082	55744291	3	2830										
GIGYF2	26058	broad.mit.edu	37	chr2	233721515	233721515	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ttctgcaggattttcagtcaAtgcatcatcggagcgactca	9	10	5	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:233721515A>G	ENST00000409547.1	+	31	4156	c.3845A>G	c.(3844-3846)aAt>aGt	p.N1282S	GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000373566.3_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N1276S	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1282					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTCAGTCAATGCATCATCG	0.512																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3910-3912)aAt>aGt		GRB10 interacting GYF protein 2							163	152	155					2																	233721515		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233721515A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3845A>G	2.37:g.233721515A>G	ENSP00000386537:p.Asn1282Ser					GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N1276S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.N1282S	p.N1304S			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	30	4108	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1282					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3911A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921484	0.73213	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.73681	-0.76;-0.77;-0.76;-0.77;-0.76;-0.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	L	0.51422	1.61	0.80722	D	1	P;P;P	0.51057	0.941;0.941;0.941	B;B;B	0.41271	0.352;0.265;0.265	T	0.66917	-0.5802	10	0.23891	T	0.37	-13.0704	14.4071	0.67090	1.0:0.0:0.0:0.0	.	1303;1282;1276	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	S	1304;1282;1304;1282;1276;1303	ENSP00000362667:N1304S;ENSP00000362664:N1282S;ENSP00000386765:N1304S;ENSP00000386537:N1282S;ENSP00000387070:N1276S;ENSP00000387170:N1303S	ENSP00000362664:N1282S	N	+	2	0	GIGYF2	233429759	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.359000	0.90093	1.788000	0.52465	0.477000	0.44152	AAT		0.512	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		13	78	0	0	0	1	0	13	78					G	233721515	A	G	233721515	3	3	160	1	0	0	0	0	1	0	0	0	6378	101	4	4	4021	4	GIGYF2	2	233721515	Missense_Mutation	SNP	A	TCGA-WB-A81E-01A-11D-A35I-08	46266433	233721515	9477858	4	2831										
ITIH3	3699	broad.mit.edu	37	chr3	52840340	52840340	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ccccacttcatcatccaaatTccggagaaagacgatgccct	6	15	2	2			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr3:52840340T>A	ENST00000449956.2	+	18	1980	c.1974T>A	c.(1972-1974)atT>atA	p.I658I	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	658					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCATCCAAATTCCGGAGAAAG	0.572																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1972-1974)atT>atA		inter-alpha-trypsin inhibitor heavy chain 3							55	57	56					3																	52840340		2031	4192	6223	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840340T>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1974T>A	3.37:g.52840340T>A						ITIH3_ENST00000416872.2_Intron	p.I658I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	1980	+			658					Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1974T>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	T	5.669	0.307984	0.10733	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.38	-6.2	0.02072	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.15066	T	0.55	-11.3148	7.613	0.28142	0.0:0.2827:0.2576:0.4597	.	.	.	.	T	659;647	.	ENSP00000381662:S659T	S	+	1	0	ITIH3	52815380	0.030000	0.19436	0.044000	0.18714	0.438000	0.31896	-1.200000	0.03029	-0.670000	0.05282	0.459000	0.35465	TCC		0.572	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	44	0	0	0	1	0	4	44					A	52840340	T	A	52840340	2	1	160	1	0	0	0	0	0	0	0	1	7905	1771	62	5		5	ITIH3	3	52840340	Silent	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08		52840340	145182090	5	2832										
ANKHD1	54882	broad.mit.edu	37	chr5	139907954	139907960	+	Frame_Shift_Del	DEL	CTTTGGG	CTTTGGG	-													0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ttccagtaaaaatgcatttcCtttgggtgctccaactcttg							TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr5:139907954_139907960delCTTTGGG	ENST00000360839.2	+	29	5577_5583	c.5423_5429delCTTTGGG	c.(5422-5430)cctttgggtfs	p.PLG1808fs	ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.PLG1808fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1808						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCATTTCCTTTGGGTGCTCCAACT	0.406																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5422-5430)ctfs		ankyrin repeat and KH domain containing 1																																				SO:0001589	frameshift_variant	54882							g.chr5:139907954_139907960delCTTTGGG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5423_5429delCTTTGGG	5.37:g.139907954_139907960delCTTTGGG	ENSP00000354085:p.Pro1808fs					ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.PLG1808fs	p.PLG1808fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5547_5553	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.5423_5429delCTTTGGG	CCDS4225.1																																																																																				0.406	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		8	141						8	141	---	---	---	---	-	139907960	CTTTGGG	-	139907954	7	5	160	1	0	1	0	1	0	0	0	0	628	681	24	0	5643	0	ANKHD1	5	139907954	Frame_Shift_Del	DEL	CTTTGGG	TCGA-WB-A81E-01A-11D-A35I-08		139907954	41007306	6	2833										
HDAC2	3066	broad.mit.edu	37	chr6	114270226	114270226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ataccacagcactaggttgaTacatctccatcacctttgag	6	12	2	2			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr6:114270226T>C	ENST00000519065.1	-	8	1134	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C|HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C			Q92769	HDAC2_HUMAN	histone deacetylase 2	253	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ACTAGGTTGATACATCTCCAT	0.363																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(757-759)tAt>tGt		histone deacetylase 2	Vorinostat(DB02546)						208	187	194					6																	114270226		1988	4173	6161	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114270226T>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.758A>G	6.37:g.114270226T>C	ENSP00000430432:p.Tyr253Cys					HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C|HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C	p.Y253C			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	8	1134	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	253			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.758A>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485314	0.84854	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.8	5.8	0.92144	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000004	D	0.90222	0.6943	H	0.98199	4.17	0.80722	D	1	D;D	0.67145	0.996;0.992	D;P	0.71656	0.974;0.881	D	0.93806	0.7105	10	0.87932	D	0	-30.1926	16.1408	0.81519	0.0:0.0:0.0:1.0	.	223;253	B3KRS5;Q92769	.;HDAC2_HUMAN	C	253;347;223;223	ENSP00000430432:Y253C;ENSP00000381331:Y347C;ENSP00000430008:Y223C;ENSP00000357621:Y223C	ENSP00000357621:Y223C	Y	-	2	0	HDAC2	114376919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.099000	0.64554	2.218000	0.71995	0.533000	0.62120	TAT		0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			6	102	0	0	0	1	0	6	102					C	114270226	T	C	114270226	3	2	160	1	0	0	0	0	1	0	0	0	7007	1406	49	4	736	4	HDAC2	6	114270226	Missense_Mutation	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08		114270226	56844841	7	2834										
TSGA13	114960	broad.mit.edu	37	chr7	130356501	130356501	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	tttgaaagagaggagcttacCatctttcctcatatctctct	6	10	4	2			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr7:130356501C>T	ENST00000456951.1	-	8	1509	c.658G>A	c.(658-660)Gct>Act	p.A220T	TSGA13_ENST00000356588.3_Splice_Site_p.A220T|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	220										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGAGCTTACCATCTTTCCTC	0.448																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.e8+1		testis specific, 13							242	234	237					7																	130356501		2203	4300	6503	SO:0001630	splice_region_variant	114960							g.chr7:130356501C>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.658+1G>A	7.37:g.130356501C>T						TSGA13_ENST00000356588.3_Splice_Site_p.A220_splice	p.A220_splice			Q96PP4	TSG13_HUMAN			8	1509	-	Melanoma(18;0.0435)		220					B3KSC9	Splice_Site	SNP	ENST00000456951.1	37	c.658_splice	CCDS5824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.97|15.97	2.988498|2.988498	0.53934|0.53934	.|.	.|.	ENSG00000213265|ENSG00000213265	ENST00000456951;ENST00000356588|ENST00000418126	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	1.028930|.	0.07771|.	N|.	0.951668|.	T|T	0.33118|0.33118	0.0852|0.0852	N|N	0.14661|0.14661	0.345|0.345	0.29755|0.29755	N|N	0.835988|0.835988	P|.	0.40731|.	0.728|.	B|.	0.36186|.	0.219|.	T|T	0.22173|0.22173	-1.0224|-1.0224	8|5	.|.	.|.	.|.	-0.3903|-0.3903	15.0593|15.0593	0.71939|0.71939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	220|.	Q96PP4|.	TSG13_HUMAN|.	T|I	220|220	.|.	.|.	A|V	-|-	1|1	0|0	TSGA13|TSGA13	130007041|130007041	0.966000|0.966000	0.33281|0.33281	0.960000|0.960000	0.40013|0.40013	0.055000|0.055000	0.15305|0.15305	3.287000|3.287000	0.51732|0.51732	2.622000|2.622000	0.88805|0.88805	0.555000|0.555000	0.69702|0.69702	GCT|GTC		0.448	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	Missense_Mutation	8	222	0	0	0	1	0	8	222					T	130356501	C	T	130356501	5	4	160	1	0	0	0	0	0	0	1	0	16616	608	21	3	177	3	TSGA13	7	130356501	Splice_Site	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		130356501	28782162	8	2835										
TOX	9760	broad.mit.edu	37	chr8	59720342	59720342	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	gctttgtccctctgcatgccCctgtaggaagagaaaaaaga	10	10	1	2			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr8:59720342C>T	ENST00000361421.1	-	9	1765	c.1545G>A	c.(1543-1545)ggG>ggA	p.G515G		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	515						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTGCATGCCCCTGTAGGAAG	0.448											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.e9-1		thymocyte selection-associated high mobility group box							120	112	115					8																	59720342		2203	4300	6503	SO:0001630	splice_region_variant	9760					nucleus	DNA binding	g.chr8:59720342C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1545-1G>A	8.37:g.59720342C>T			OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1040		p.G515_splice	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			9	1765	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	515					Q96AV5	Splice_Site	SNP	ENST00000361421.1	37	c.1544_splice	CCDS34897.1																																																																																				0.448	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	Silent	6	39	0	0	0	1	0	6	39					T	59720342	C	T	59720342	5	4	160	1	0	0	0	0	0	0	1	0	16374	637	22	3	39	3	TOX	8	59720342	Splice_Site	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		59720342	86643680	9	2836										
VCP	7415	broad.mit.edu	37	chr9	35057381	35057381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	caaccaacttacctgaagctGccaaagccccgactctgctg	7	16	1	1			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr9:35057381G>A	ENST00000358901.6	-	16	3202	c.2307C>T	c.(2305-2307)ggC>ggT	p.G769G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	769					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCTGAAGCTGCCAAAGCCCC	0.507																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2305-2307)ggC>ggT		valosin containing protein							244	261	255					9																	35057381		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35057381G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.2307C>T	9.37:g.35057381G>A							p.G769G	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		16	3202	-			769					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.2307C>T	CCDS6573.1																																																																																				0.507	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		5	384	0	0	0	1	0	5	384					A	35057381	G	A	35057381	2	1	160	1	0	0	0	0	0	0	0	1	17137	1306	46	3		3	VCP	9	35057381	Silent	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		35057381	106156050	10	2837										
DMBT1	1755	broad.mit.edu	37	chr10	124392750	124392750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ctatcccaaccatcaggggaCttttccagcccattctatcc	5	16	2	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr10:124392750C>A	ENST00000338354.3	+	49	6160	c.6054C>A	c.(6052-6054)gaC>gaA	p.D2018E	DMBT1_ENST00000368909.3_Missense_Mutation_p.D2018E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2018	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATCAGGGGACTTTTCCAGCC	0.507																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6052-6054)gaC>gaA		deleted in malignant brain tumors 1							141	137	138					10																	124392750		1893	4120	6013	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392750C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6054C>A	10.37:g.124392750C>A	ENSP00000342210:p.Asp2018Glu					DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2018E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E	p.D2018E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			49	6160	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2018			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6054C>A		.	.	.	.	.	.	.	.	.	.	C	8.875	0.950121	0.18431	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.28	-2.15	0.07102	CUB (5);	.	.	.	.	T	0.04003	0.0112	N	0.00602	-1.34	0.09310	N	1	B;B;B;P;B;B;B	0.39696	0.001;0.0;0.001;0.683;0.001;0.001;0.001	B;B;B;B;B;B;B	0.31495	0.002;0.001;0.002;0.131;0.002;0.002;0.003	T	0.21075	-1.0256	9	0.02654	T	1	.	4.3035	0.10935	0.2302:0.3181:0.3738:0.0779	.	738;1998;1267;2147;1390;2008;2018	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	E	2018;2147;2018;2018;2018;2017;1390;2008;1390;1390;2018;2008;1390;164;738	ENSP00000342210:D2018E;ENSP00000343175:D2008E;ENSP00000327747:D1390E;ENSP00000357905:D2018E;ENSP00000357951:D2008E;ENSP00000357952:D1390E;ENSP00000352593:D738E	ENSP00000331522:D1390E	D	+	3	2	DMBT1	124382740	0.000000	0.05858	0.071000	0.20095	0.098000	0.18820	-1.879000	0.01629	-0.071000	0.12886	-0.300000	0.09419	GAC		0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		39	54	1	0	3.61848e-18	1	3.71899e-18	39	54					A	124392750	C	A	124392750	3	1	160	1	0	0	0	0	1	0	0	0	4577	564	20	5	6248	5	DMBT1	10	124392750	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		124392750	11141997	11	2838										
C10orf90	118611	broad.mit.edu	37	chr10	128118419	128118419	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ctttgggtttgaacaagttaTctggaaaaaatagaaagaga	10	3	1	3			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr10:128118419T>C	ENST00000284694.7	-	7	2018	c.1898A>G	c.(1897-1899)gAt>gGt	p.D633G	C10orf90_ENST00000356858.3_Splice_Site_p.D586G|C10orf90_ENST00000480379.1_Splice_Site_p.D37G|C10orf90_ENST00000454341.1_Splice_Site_p.D536G|C10orf90_ENST00000544758.1_Splice_Site_p.D730G	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	633	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GAACAAGTTATCTGGAAAAAA	0.358																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.e7-1		chromosome 10 open reading frame 90							133	125	128					10																	128118419		2203	4300	6503	SO:0001630	splice_region_variant	118611							g.chr10:128118419T>C	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1898-1A>G	10.37:g.128118419T>C						C10orf90_ENST00000454341.1_Splice_Site_p.D536_splice|C10orf90_ENST00000544758.1_Splice_Site_p.D730_splice|C10orf90_ENST00000356858.3_Splice_Site_p.D586_splice|C10orf90_ENST00000480379.1_Splice_Site_p.D37_splice	p.D633_splice	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	7	2018	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	633					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Splice_Site	SNP	ENST00000284694.7	37	c.1897_splice	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.37|13.37	2.218043|2.218043	0.39201|0.39201	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642|ENST00000424927	T;T;T;T|.	0.20332|.	2.11;2.15;2.12;2.08|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.136558|.	0.33691|.	N|.	0.004647|.	T|T	0.58148|0.58148	0.2102|0.2102	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B;P|.	0.36110|.	0.193;0.106;0.537|.	B;B;B|.	0.38500|.	0.08;0.045;0.275|.	T|T	0.55891|0.55891	-0.8069|-0.8069	10|5	0.56958|.	D|.	0.05|.	.|.	12.3833|12.3833	0.55320|0.55320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	730;633;536|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	G|V	586;633;536;730;633|176	ENSP00000284694:D633G;ENSP00000398786:D536G;ENSP00000444369:D730G;ENSP00000405995:D633G|.	ENSP00000284694:D633G|.	D|I	-|-	2|1	0|0	C10orf90|C10orf90	128108409|128108409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.722000|5.722000	0.68485|0.68485	1.928000|1.928000	0.55862|0.55862	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.358	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	Missense_Mutation	10	71	0	0	0	1	0	10	71					C	128118419	T	C	128118419	5	2	160	1	0	0	0	0	0	0	1	0	1623	1449	50	4	213	4	C10orf90	10	128118419	Splice_Site	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08	3725669	128118419	7416328	12	2839										
RPS6KA4	8986	broad.mit.edu	37	chr11	64136019	64136019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	cagcttttctgtgtgtcgccGctgccgccagcgccagagcg	13	15	1	1	rs199674030		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr11:64136019G>A	ENST00000334205.4	+	11	1345	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R420H|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	427	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGTGTCGCCGCTGCCGCCAG	0.701													G|||	1	0.000199681	0	0	5008	,	,		9970	0		0.001	False		,,,				2504	0					ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1258-1260)cGc>cAc		ribosomal protein S6 kinase, 90kDa, polypeptide 4		G	HIS/ARG,HIS/ARG	1,4357		0,1,2178	9	11	11		1262,1280	4.5	1	11		11	12,8514		0,12,4251	yes	missense,missense	RPS6KA4	NM_001006944.1,NM_003942.2	29,29	0,13,6429	AA,AG,GG		0.1407,0.0229,0.1009	probably-damaging,probably-damaging	421/767,427/773	64136019	13,12871	2179	4263	6442	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64136019G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1280G>A	11.37:g.64136019G>A	ENSP00000333896:p.Arg427His					RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R427H	p.R420H	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			11	1347	+			427			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.1259G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.339473	0.60963	2.29E-4	0.001407	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000530504	T;T;T	0.42513	0.97;0.97;0.97	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221656	0.37530	N	0.002053	T	0.47451	0.1446	L	0.33339	1.005	0.09310	N	0.999995	D;D;D	0.69078	0.963;0.997;0.984	P;D;P	0.65323	0.616;0.934;0.843	T	0.32214	-0.9915	10	0.72032	D	0.01	.	8.538	0.33375	0.108:0.0:0.892:0.0	.	420;427;421	E9PJN1;O75676;O75676-2	.;KS6A4_HUMAN;.	H	420;427;405	ENSP00000435580:R420H;ENSP00000333896:R427H;ENSP00000432945:R405H	ENSP00000333896:R427H	R	+	2	0	RPS6KA4	63892595	0.333000	0.24731	0.997000	0.53966	0.668000	0.39293	2.159000	0.42339	2.059000	0.61396	0.462000	0.41574	CGC		0.701	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		5	1	0	0	0	1	0	5	1					A	64136019	G	A	64136019	3	1	160	1	0	0	0	0	1	0	0	0	13653	1087	38	1	1322	1	RPS6KA4	11	64136019	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		64136019	70870497	13	2840										
PFKM	5213	broad.mit.edu	37	chr12	48529135	48529135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	cttggggcatgtgcagagggGtgggacgccatcagcctttg	17	9	1	1			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr12:48529135G>A	ENST00000312352.7	+	10	944	c.905G>A	c.(904-906)gGt>gAt	p.G302D	PFKM_ENST00000340802.6_Missense_Mutation_p.G373D|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000395233.2_Intron	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	302	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTGCAGAGGGGTGGGACGCCA	0.572																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1117-1119)gGt>gAt		phosphofructokinase, muscle							133	109	117					12																	48529135		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48529135G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.905G>A	12.37:g.48529135G>A	ENSP00000309438:p.Gly302Asp					PFKM_ENST00000551804.1_Intron|PFKM_ENST00000312352.7_Missense_Mutation_p.G302D|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D|PFKM_ENST00000395233.2_Intron|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D	p.G373D	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			12	1342	+			302					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1118G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261267	0.95368	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000547587;ENST00000312352	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.05	5.05	0.67936	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.99922	4.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.99016	1.0816	10	0.87932	D	0	-13.2891	17.7333	0.88384	0.0:0.0:1.0:0.0	.	302;373	P08237;Q6ZTT1	K6PF_HUMAN;.	D	373;302;302;302	ENSP00000345771:G373D;ENSP00000352842:G302D;ENSP00000449426:G302D;ENSP00000309438:G302D	ENSP00000309438:G302D	G	+	2	0	PFKM	46815402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	GGT		0.572	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		10	50	0	0	0	1	0	10	50					A	48529135	G	A	48529135	3	1	160	1	0	0	0	0	1	0	0	0	11765	1261	44	3	1160	3	PFKM	12	48529135	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		48529135	85322760	14	2841										
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		10	176						10	176	---	---	---	---	T	60582734	-	T	60582733	7	5	160	1	0	1	1	0	0	0	0	0	4520	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-WB-A81E-01A-11D-A35I-08		60582733	54587145	15	2842										
CGNL1	84952	broad.mit.edu	37	chr15	57730597	57730597	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	atggagttctagatcgcaaaGacgggtctgtgaagccatct	12	8	3	3			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr15:57730597G>A	ENST00000281282.5	+	2	478	c.400G>A	c.(400-402)Gac>Aac	p.D134N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	134	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATCGCAAAGACGGGTCTGT	0.473																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(400-402)Gac>Aac		cingulin-like 1							54	54	54					15																	57730597		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730597G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.400G>A	15.37:g.57730597G>A	ENSP00000281282:p.Asp134Asn						p.D134N	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	478	+			134			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.400G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727583	0.48833	.	.	ENSG00000128849	ENST00000281282	T	0.06933	3.24	4.63	4.63	0.57726	.	0.151331	0.30277	N	0.009983	T	0.09992	0.0245	L	0.40543	1.245	0.38027	D	0.935044	B	0.27559	0.181	B	0.24155	0.051	T	0.12553	-1.0543	10	0.72032	D	0.01	-5.7126	17.6896	0.88266	0.0:0.0:1.0:0.0	.	134	Q0VF96	CGNL1_HUMAN	N	134	ENSP00000281282:D134N	ENSP00000281282:D134N	D	+	1	0	CGNL1	55517889	1.000000	0.71417	0.072000	0.20136	0.506000	0.33950	5.694000	0.68272	2.401000	0.81631	0.650000	0.86243	GAC		0.473	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		4	63	0	0	0	1	0	4	63					A	57730597	G	A	57730597	3	1	160	1	0	0	0	0	1	0	0	0	3304	942	33	3	402	3	CGNL1	15	57730597	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		57730597	44800795	16	2843										
DNASE1	1773	broad.mit.edu	37	chr16	3706108	3706108	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	gtttcttcaatccagggatgCaccagacacctatcactacg	7	13	3	1			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr16:3706108C>G	ENST00000246949.5	+	4	3451	c.242C>G	c.(241-243)gCa>gGa	p.A81G	DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G|DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		TCCAGGGATGCACCAGACACC	0.597																																						ENST00000246949.5																			0				lung(1)	1						c.(241-243)gCa>gGa		deoxyribonuclease I	Dornase Alfa(DB00003)						86	79	81					16																	3706108		2197	4300	6497	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3706108C>G		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.242C>G	16.37:g.3706108C>G	ENSP00000246949:p.Ala81Gly					DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G	p.A81G	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	4	3451	+		Ovarian(90;0.0261)	81					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.242C>G	CCDS10507.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.38|11.38	1.622352|1.622352	0.28889|0.28889	.|.	.|.	ENSG00000213918|ENSG00000213918	ENST00000407479;ENST00000246949|ENST00000414110	T;T|T	0.51325|0.46819	0.71;0.71|0.86	5.06|5.06	-2.07|-2.07	0.07276|0.07276	Endonuclease/exonuclease/phosphatase (2);|.	1.806170|.	0.02552|.	N|.	0.095796|.	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	B|.	0.33777|.	0.425|.	B|.	0.28916|.	0.096|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|7	0.37606|0.87932	T|D	0.19|0	-7.8118|-7.8118	2.0623|2.0623	0.03595|0.03595	0.4651:0.2015:0.1899:0.1434|0.4651:0.2015:0.1899:0.1434	.|.	81|.	P24855|.	DNAS1_HUMAN|.	G|D	81|2	ENSP00000385905:A81G;ENSP00000246949:A81G|ENSP00000416699:H2D	ENSP00000246949:A81G|ENSP00000416699:H2D	A|H	+|+	2|1	0|0	DNASE1|DNASE1	3646109|3646109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-1.071000|-1.071000	0.03437|0.03437	-0.763000|-0.763000	0.04658|0.04658	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.597	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			7	54	0	0	0	1	0	7	54					G	3706108	C	G	3706108	3	3	160	1	0	0	0	0	1	0	0	0	4660	710	25	5	252	5	DNASE1	16	3706108	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		3706108	86648645	17	2844										
SUPT6H	6830	broad.mit.edu	37	chr17	27023888	27023888	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	tcaagagagtgatcgcacacCcatccttccataatatcaat	5	12	2	2			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr17:27023888C>T	ENST00000314616.6	+	30	4280	c.3997C>T	c.(3997-3999)Cca>Tca	p.P1333S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1333	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCGCACACCCATCCTTCCA	0.498																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3997-3999)Cca>Tca		suppressor of Ty 6 homolog (S. cerevisiae)							127	107	114					17																	27023888		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27023888C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3997C>T	17.37:g.27023888C>T	ENSP00000319104:p.Pro1333Ser					SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S	p.P1333S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			30	4280	+	Lung NSC(42;0.00431)		1333			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3997C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270240	0.95429	.	.	ENSG00000109111	ENST00000314616	T	0.31510	1.49	6.07	6.07	0.98685	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72033	-0.4412	10	0.66056	D	0.02	-9.9544	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1333	Q7KZ85	SPT6H_HUMAN	S	1333	ENSP00000319104:P1333S	ENSP00000319104:P1333S	P	+	1	0	SUPT6H	24048015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.399000	0.79935	2.884000	0.98904	0.655000	0.94253	CCA		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		16	32	0	0	0	1	0	16	32					T	27023888	C	T	27023888	3	4	160	1	0	0	0	0	1	0	0	0	15397	623	22	3	4111	3	SUPT6H	17	27023888	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		27023888	54171322	18	2845										
PTBP1	5725	broad.mit.edu	37	chr19	804908	804908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ccaggccctgctgcagtatgCggaccccgtgagcgcccagc	13	17	0	1	rs201221864		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:804908C>T	ENST00000349038.4	+	7	759	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(685-687)gCg>gTg		polypyrimidine tract binding protein 1		C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82	77	79		686,686,686,	3.1	0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804908C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.686C>T	19.37:g.804908C>T	ENSP00000014112:p.Ala229Val					PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	p.A229V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1109	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	229			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.686C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			4	162	0	0	0	1	0	4	162					T	804908	C	T	804908	3	4	160	1	0	0	0	0	1	0	0	0	12725	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		804908	58324075	19	2846										
EIF3K	27335	broad.mit.edu	37	chr19	39127527	39127527	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	tctggtctctccttccccacAggtgtgtccagcatcatggc	9	15	3	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:39127527A>C	ENST00000593149.1	+	8	695		c.e8-1		EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTCCCCACAGGTGTGTCCA	0.532																																						ENST00000248342.4																		EIF3K/CYP39A1(2)	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.e8-1		eukaryotic translation initiation factor 3, subunit K							208	176	187					19																	39127527		2203	4300	6503	SO:0001630	splice_region_variant	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39127527A>C	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"eukaryotic translation initiation factor 3, subunit 12"	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000593149.1:c.365-1A>C	19.37:g.39127527A>C						EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site		NM_013234.2	NP_037366.1	Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	797	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)								Splice_Site	SNP	ENST00000593149.1	37			.	.	.	.	.	.	.	.	.	.	A	20.2	3.957901	0.73902	.	.	ENSG00000178982	ENST00000248342	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4036	0.60898	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3K	43819367	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.271000	0.78506	2.005000	0.58758	0.528000	0.53228	.		0.532	EIF3K-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453405.1	NM_013234	Intron	6	108	0	0	0	1	0	6	108					C	39127527	A	C	39127527	5	2	160	1	0	0	0	0	0	0	1	0	5021	202	7	5	654	5	EIF3K	19	39127527	Splice_Site	SNP	A	TCGA-WB-A81E-01A-11D-A35I-08	38322619	39127527	20001456	20	2847										
LGALS14	56891	broad.mit.edu	37	chr19	40199856	40199856	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ggtaatggtaaatggccaacGcatttacaactttgcccatc	8	10	0	0	rs111361406		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:40199856G>C	ENST00000392052.3	+	4	546	c.323G>C	c.(322-324)cGc>cCc	p.R108P	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.R108L(1)|p.R137L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AATGGCCAACGCATTTACAAC	0.468																																						ENST00000392052.3																			2	Substitution - Missense(2)	p.R108L(1)|p.R137L(1)	endometrium(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(322-324)cGc>cCc		lectin, galactoside-binding, soluble, 14		G	PRO/ARG,PRO/ARG	1,4405		0,1,2202	109	106	107		323,410	-1.8	0	19	dbSNP_132	107	0,8600		0,0,4300	no	missense,missense	LGALS14	NM_020129.2,NM_203471.1	103,103	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	108/140,137/169	40199856	1,13005	2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40199856G>C	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"Lectins, galactoside-binding"	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.323G>C	19.37:g.40199856G>C	ENSP00000375905:p.Arg108Pro					LGALS14_ENST00000360675.3_Missense_Mutation_p.R137P	p.R108P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	546	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	108			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.323G>C	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	0.061	-1.224251	0.01530	2.27E-4	0.0	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.05447	3.44;3.44	0.902	-1.8	0.07907	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.03915	0.0110	N	0.25060	0.705	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15484	0.002;0.013	T	0.42865	-0.9426	9	0.33141	T	0.24	.	4.5317	0.12008	0.716:0.0:0.284:0.0	.	108;137	Q8TCE9;A8MPV8	PPL13_HUMAN;.	P	108;137	ENSP00000375905:R108P;ENSP00000353893:R137P	ENSP00000353893:R137P	R	+	2	0	LGALS14	44891696	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.870000	0.04228	-0.825000	0.04290	-0.671000	0.03813	CGC		0.468	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		9	101	0	0	0	1	0	9	101					C	40199856	G	C	40199856	3	2	160	1	0	0	0	0	1	0	0	0	8741	1087	38	5	443	5	LGALS14	19	40199856	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	1072329	40199856	18929127	21	2848										
GGT7	2686	broad.mit.edu	37	chr20	33449307	33449307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	ggcccctggtgcggactcccGgaaatcaattaggtggctct	13	12	2	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:33449307G>A	ENST00000336431.5	-	4	660	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	206					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCGGACTCCCGGAAATCAATT	0.557																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(616-618)Cgg>Tgg		gamma-glutamyltransferase 7							64	62	63					20																	33449307		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33449307G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.616C>T	20.37:g.33449307G>A	ENSP00000338964:p.Arg206Trp						p.R206W	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			4	660	-			206					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.616C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365621	0.82463	.	.	ENSG00000131067	ENST00000336431	T	0.10573	2.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	H	0.95950	3.745	0.49798	D	0.99982	D;P;D	0.76494	0.998;0.854;0.999	P;B;D	0.64595	0.855;0.253;0.927	T	0.64732	-0.6338	10	0.87932	D	0	-17.0466	19.926	0.97102	0.0:0.0:1.0:0.0	.	206;206;206	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	W	206	ENSP00000338964:R206W	ENSP00000338964:R206W	R	-	1	2	GGT7	32912968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.901000	0.63259	2.707000	0.92482	0.655000	0.94253	CGG		0.557	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		7	40	0	0	0	1	0	7	40					A	33449307	G	A	33449307	3	1	160	1	0	0	0	0	1	0	0	0	6364	1115	39	2	1420	2	GGT7	20	33449307	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08		33449307	29576213	22	2849										
CSTF1	1477	broad.mit.edu	37	chr20	54972305	54972305	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	agttcagtatgcaattggtcGttcagatactgttgcccctg	10	9	2	1			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:54972305G>T	ENST00000217109.4	+	3	564	c.212G>T	c.(211-213)cGt>cTt	p.R71L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	71					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GCAATTGGTCGTTCAGATACT	0.428																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(211-213)cGt>cTt		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							144	136	139					20																	54972305		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54972305G>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.212G>T	20.37:g.54972305G>T	ENSP00000217109:p.Arg71Leu					CSTF1_ENST00000493039.1_3'UTR	p.R71L	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		3	564	+			71					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.212G>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692933	0.68271	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	T;T;T	0.57273	0.41;0.43;0.41	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.29908	0.895	0.80722	D	1	B	0.22414	0.069	B	0.12837	0.008	T	0.18429	-1.0337	10	0.28530	T	0.3	1.8631	20.6208	0.99490	0.0:0.0:1.0:0.0	.	71	Q05048	CSTF1_HUMAN	L	71;71;71;58;71	ENSP00000387968:R71L;ENSP00000217109:R71L;ENSP00000409035:R71L	ENSP00000217109:R71L	R	+	2	0	CSTF1	54405712	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.624000	0.98398	2.882000	0.98803	0.655000	0.94253	CGT		0.428	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		12	177	1	0	1.08611e-07	1	1.08611e-07	12	177					T	54972305	G	T	54972305	3	4	160	1	0	0	0	0	1	0	0	0	3983	1145	40	5	218	5	CSTF1	20	54972305	Missense_Mutation	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	21522998	54972305	8053215	23	2850										
MORC3	23515	broad.mit.edu	37	chr21	37716913	37716913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	tatatctaaagccaagaatgCagatcatcctacgtggacag	8	9	2	2			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr21:37716913C>G	ENST00000400485.1	+	7	869	c.793C>G	c.(793-795)Cag>Gag	p.Q265E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	265					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCCAAGAATGCAGATCATCCT	0.373																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(793-795)Cag>Gag		MORC family CW-type zinc finger 3							141	134	137					21																	37716913		1904	4128	6032	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37716913C>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.793C>G	21.37:g.37716913C>G	ENSP00000383333:p.Gln265Glu					MORC3_ENST00000487909.1_3'UTR	p.Q265E	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			7	869	+			265					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.793C>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097662	0.94197	.	.	ENSG00000159256	ENST00000400485	T	0.72942	-0.7	5.49	5.49	0.81192	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.66297	2.02	0.80722	D	1	P	0.38250	0.624	B	0.38378	0.272	T	0.72191	-0.4365	10	0.38643	T	0.18	-12.025	19.377	0.94514	0.0:1.0:0.0:0.0	.	265	Q14149	MORC3_HUMAN	E	265	ENSP00000383333:Q265E	ENSP00000383333:Q265E	Q	+	1	0	MORC3	36638783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.582000	0.87167	0.655000	0.94253	CAG		0.373	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		7	60	0	0	0	1	0	7	60					G	37716913	C	G	37716913	3	3	160	1	0	0	0	0	1	0	0	0	9703	711	25	5	819	5	MORC3	21	37716913	Missense_Mutation	SNP	C	TCGA-WB-A81E-01A-11D-A35I-08		37716913	10412982	24	2851										
LSS	4047	broad.mit.edu	37	chr21	47648646	47648646	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	cccggggcgaggggactcacGtgccctccgtcattgctgct	14	15	2	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr21:47648646G>A	ENST00000397728.3	-	1	92	c.14C>T	c.(13-15)aCg>aTg	p.T5M	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|LSS_ENST00000464357.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|LSS_ENST00000522411.1_Splice_Site_p.T5M|LSS_ENST00000457828.2_De_novo_Start_InFrame|LSS_ENST00000356396.4_Splice_Site_p.T5M|MCM3AP-AS1_ENST00000588753.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	5					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGGACTCACGTGCCCTCCGT	0.746																																					Pancreas(114;955 2313 34923 50507)	ENST00000457828.2																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21								lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							20	21	21					21																	47648646		2194	4291	6485	SO:0001630	splice_region_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47648646G>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.14+1C>T	21.37:g.47648646G>A						LSS_ENST00000522411.1_Splice_Site_p.T5_splice|LSS_ENST00000356396.4_Splice_Site_p.T5_splice|LSS_ENST00000397728.3_Splice_Site_p.T5_splice|LSS_ENST00000464357.1_5'UTR		NM_001145437.1	NP_001138909.1	P48449	ERG7_HUMAN			0	92	-	Breast(49;0.214)							B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Translation_Start_Site	SNP	ENST00000397728.3	37		CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711957	0.68730	.	.	ENSG00000160285	ENST00000356396;ENST00000397728;ENST00000522411	T;T;T	0.14893	2.47;2.47;2.47	3.95	3.95	0.45737	.	0.066662	0.64402	D	0.000017	T	0.30166	0.0756	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.57371	0.819;0.664	T	0.02646	-1.1129	10	0.62326	D	0.03	.	11.6566	0.51322	0.0:0.0:1.0:0.0	.	5;5	E9PEI9;P48449	.;ERG7_HUMAN	M	5	ENSP00000348762:T5M;ENSP00000380837:T5M;ENSP00000429133:T5M	ENSP00000348762:T5M	T	-	2	0	LSS	46473074	0.001000	0.12720	0.576000	0.28549	0.274000	0.26718	0.025000	0.13577	2.212000	0.71576	0.491000	0.48974	ACG		0.746	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2		Missense_Mutation	4	12	0	0	0	1	0	4	12					A	47648646	G	A	47648646	5	1	160	1	0	0	0	0	0	0	1	0	9065	1159	40	1	2272	1	LSS	21	47648646	Splice_Site	SNP	G	TCGA-WB-A81E-01A-11D-A35I-08	9931733	47648646	481249	25	2852										
CDKL5	6792	broad.mit.edu	37	chrX	18616728	18616728	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	1	1	0.505769230769231	0	0.622485207100592	1	1	0	gtggaaagcagcacattgtcTaataggtaaatattcccttt	8	7	1	0			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chrX:18616728T>C	ENST00000379989.3	+	12	1257	c.972T>C	c.(970-972)tcT>tcC	p.S324S	CDKL5_ENST00000379996.3_Silent_p.S324S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	324					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCACATTGTCTAATAGGTAAA	0.398																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(970-972)tcT>tcC		cyclin-dependent kinase-like 5							88	78	81					X																	18616728		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18616728T>C	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.972T>C	X.37:g.18616728T>C						CDKL5_ENST00000379996.3_Silent_p.S324S	p.S324S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			12	1257	+	Hepatocellular(33;0.183)		324					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.972T>C	CCDS14186.1																																																																																				0.398	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		10	84	0	0	0	1	0	10	84					C	18616728	T	C	18616728	2	2	160	1	0	0	0	0	0	0	0	1	3157	1509	53	4		4	CDKL5	23	18616728	Silent	SNP	T	TCGA-WB-A81E-01A-11D-A35I-08		18616728	136653832	26	2853										
GBP1	2633	broad.mit.edu	37	chr1	89528883	89528883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cattagtgttctcaatgaggCacattgggcctgtcatgtgg	12	8	2	1			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr1:89528883C>T	ENST00000370473.4	-	2	254	c.35G>A	c.(34-36)tGc>tAc	p.C12Y		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	12	GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCAATGAGGCACATTGGGCC	0.483																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(34-36)tGc>tAc		guanylate binding protein 1, interferon-inducible							123	114	117					1																	89528883		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89528883C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.35G>A	1.37:g.89528883C>T	ENSP00000359504:p.Cys12Tyr						p.C12Y	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	254	-		Lung NSC(277;0.123)	12					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.35G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566967	0.45694	.	.	ENSG00000117228	ENST00000370473	T	0.61392	0.11	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	M	0.91972	3.26	0.38582	D	0.950206	D	0.89917	1.0	D	0.77004	0.989	T	0.82540	-0.0406	10	0.66056	D	0.02	.	14.2897	0.66268	0.0:1.0:0.0:0.0	.	12	P32455	GBP1_HUMAN	Y	12	ENSP00000359504:C12Y	ENSP00000359504:C12Y	C	-	2	0	GBP1	89301471	1.000000	0.71417	0.996000	0.52242	0.185000	0.23345	5.572000	0.67411	1.959000	0.56917	0.313000	0.20887	TGC		0.483	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		43	31	0	0	0	1	0	43	31					T	89528883	C	T	89528883	3	4	161	1	0	0	0	0	1	0	0	0	6273	710	25	3	1783	3	GBP1	1	89528883	Missense_Mutation	SNP	C	TCGA-WB-A81F-01A-11D-A35I-08		89528883	159721738	1	2854										
UGT2B11	10720	broad.mit.edu	37	chr4	70079903	70079903	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcctccactgtgcctttcaaTtgtgtagccaggagtaaagc	9	11	1	0	rs147658117		TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr4:70079903T>C	ENST00000446444.1	-	1	546	c.538A>G	c.(538-540)Att>Gtt	p.I180V	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	180					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCCTTTCAATTGTGTAGCCA	0.428																																						ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(538-540)Att>Gtt		UDP glucuronosyltransferase 2 family, polypeptide B11		T	VAL/ILE	0,4406		0,0,2203	119	113	115		538	-3.9	0	4	dbSNP_134	115	1,8597		0,1,4298	no	missense	UGT2B11	NM_001073.1	29	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	benign	180/530	70079903	1,13003	2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079903T>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.538A>G	4.37:g.70079903T>C	ENSP00000387683:p.Ile180Val					RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.I180V	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			1	546	-			180					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.538A>G	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.827463	0.00071	0.0	1.16E-4	ENSG00000213759	ENST00000446444	T	0.59364	0.27	1.96	-3.91	0.04168	.	0.899723	0.09229	U	0.830834	T	0.33440	0.0863	N	0.21373	0.66	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.05451	-1.0884	10	0.32370	T	0.25	.	0.1902	0.00133	0.2435:0.1699:0.2496:0.337	.	180	O75310	UDB11_HUMAN	V	180	ENSP00000387683:I180V	ENSP00000387683:I180V	I	-	1	0	UGT2B11	70114492	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.982000	0.01489	-3.351000	0.00181	-3.107000	0.00063	ATT		0.428	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		4	90	0	0	0	1	0	4	90					C	70079903	T	C	70079903	3	2	161	1	0	0	0	0	1	0	0	0	16954	1493	52	4	1075	4	UGT2B11	4	70079903	Missense_Mutation	SNP	T	TCGA-WB-A81F-01A-11D-A35I-08		70079903	121074373	2	2855										
KIF13B	23303	broad.mit.edu	37	chr8	28997654	28997654	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcatcgcctcctgcgatccTctccccaacatcaccactga	4	20	3	1			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr8:28997654T>C	ENST00000524189.1	-	21	2577	c.2539A>G	c.(2539-2541)Agg>Ggg	p.R847G	RN7SL781P_ENST00000582428.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	847					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTGCGATCCTCTCCCCAACA	0.542																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(2539-2541)Agg>Ggg		kinesin family member 13B							61	64	63					8																	28997654		2179	4273	6452	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28997654T>C	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2539A>G	8.37:g.28997654T>C	ENSP00000427900:p.Arg847Gly					CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	p.R847G	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	21	2577	-		Ovarian(32;0.000536)	847					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.2539A>G	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690138	0.15039	.	.	ENSG00000197892	ENST00000524189	T	0.76578	-1.03	4.8	3.64	0.41730	.	0.188993	0.53938	D	0.000049	T	0.67951	0.2948	L	0.39566	1.225	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.65146	-0.6239	10	0.36615	T	0.2	.	11.4907	0.50379	0.0:0.0:0.2642:0.7358	.	847	F8VPJ2	.	G	847	ENSP00000427900:R847G	ENSP00000427900:R847G	R	-	1	2	KIF13B	29053573	0.504000	0.26123	0.622000	0.29159	0.009000	0.06853	0.788000	0.26872	2.015000	0.59207	0.533000	0.62120	AGG		0.542	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			6	10	0	0	0	1	0	6	10					C	28997654	T	C	28997654	3	2	161	1	0	0	0	0	1	0	0	0	8275	1550	54	4	3021	4	KIF13B	8	28997654	Missense_Mutation	SNP	T	TCGA-WB-A81F-01A-11D-A35I-08		28997654	117366368	3	2856										
EBF3	253738	broad.mit.edu	37	chr10	131639196	131639196	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atggcgccacttccatatccAttcatgctagtgctgactgt	8	12	1	1			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr10:131639196A>G	ENST00000355311.5	-	14	1545	c.1473T>C	c.(1471-1473)aaT>aaC	p.N491N	EBF3_ENST00000368648.3_Silent_p.N482N|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	491	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTCCATATCCATTCATGCTAG	0.562																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1444-1446)aaT>aaC		early B-cell factor 3							170	157	161					10																	131639196		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639196A>G		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1473T>C	10.37:g.131639196A>G						EBF3_ENST00000355311.5_Silent_p.N491N	p.N482N	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1518	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	491			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.1446T>C		.	.	.	.	.	.	.	.	.	.	A	8.873	0.949873	0.18431	.	.	ENSG00000108001	ENST00000440978	.	.	.	4.7	0.96	0.19631	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46105	-0.9215	4	.	.	.	-11.865	8.7993	0.34898	0.7773:0.0:0.2227:0.0	.	.	.	.	R	53	.	.	W	-	1	0	EBF3	131529186	0.999000	0.42202	0.999000	0.59377	0.999000	0.98932	0.766000	0.26560	-0.002000	0.14469	0.533000	0.62120	TGG		0.562	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		13	79	0	0	0	1	0	13	79					G	131639196	A	G	131639196	2	3	161	1	0	0	0	0	0	0	0	1	4882	214	8	4		4	EBF3	10	131639196	Silent	SNP	A	TCGA-WB-A81F-01A-11D-A35I-08		131639196	3895551	4	2857										
CEP164	22897	broad.mit.edu	37	chr11	117280555	117280555	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccctggccaggttctcagccTtatcatctgctacacccacg	7	17	3	0			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chr11:117280555T>G	ENST00000278935.3	+	30	4117	c.3970T>G	c.(3970-3972)Tta>Gta	p.L1324V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1324					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTTCTCAGCCTTATCATCTGC	0.657																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3970-3972)Tta>Gta		centrosomal protein 164kDa							105	101	102					11																	117280555		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280555T>G	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3970T>G	11.37:g.117280555T>G	ENSP00000278935:p.Leu1324Val					CEP164_ENST00000533706.1_3'UTR	p.L1324V	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	4117	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1324					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3970T>G	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	T	8.904	0.956949	0.18507	.	.	ENSG00000110274	ENST00000278935	T	0.22743	1.94	4.28	-1.92	0.07618	.	1.757040	0.03484	N	0.215571	T	0.15349	0.0370	L	0.34521	1.04	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.17098	0.017;0.017	T	0.25641	-1.0126	10	0.22109	T	0.4	4.5061	6.1029	0.20057	0.0:0.36:0.4401:0.1999	.	1324;1319	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	V	1324	ENSP00000278935:L1324V	ENSP00000278935:L1324V	L	+	1	2	CEP164	116785765	0.000000	0.05858	0.045000	0.18777	0.093000	0.18481	0.045000	0.14013	-0.171000	0.10797	0.459000	0.35465	TTA		0.657	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		12	100	0	0	0	1	0	12	100					G	117280555	T	G	117280555	3	3	161	1	0	0	0	0	1	0	0	0	3249	1606	56	5	4080	5	CEP164	11	117280555	Missense_Mutation	SNP	T	TCGA-WB-A81F-01A-11D-A35I-08		117280555	17725961	5	2858										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-WB-A81F-01A-11D-A35I-08	TCGA-WB-A81F-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a904e-2c97-4b2d-a3d0-72c749f4d058	76d9f903-9628-44bf-ace7-218726e479e6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	42	0	0	0	1	0	4	42					A	150156360	G	A	150156360	2	1	161	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-WB-A81F-01A-11D-A35I-08		150156360	5114200	6	2859										
C1orf86	199990	broad.mit.edu	37	chr1	2125338	2125338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	acttcagtgggctccgggccGcacctgggctcctgcaacac	12	16	1	0			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr1:2125338G>A	ENST00000378546.4	-	3	234	c.210C>T	c.(208-210)tgC>tgT	p.C70C	C1orf86_ENST00000378545.3_Silent_p.C173C|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	70					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTCCGGGCCGCACCTGGGCT	0.652																																						ENST00000378545.3																			0				central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(517-519)tgC>tgT		chromosome 1 open reading frame 86							46	55	52					1																	2125338		2202	4300	6502	SO:0001819	synonymous_variant	199990							g.chr1:2125338G>A	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.210C>T	1.37:g.2125338G>A						C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Silent_p.C70C	p.C173C			Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	518	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	70					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Silent	SNP	ENST00000378546.4	37	c.519C>T	CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	9.490	1.100497	0.20552	.	.	ENSG00000162585	ENST00000378543;ENST00000420515	T	0.46063	0.88	2.95	0.662	0.17880	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	0.999999	P	0.46952	0.887	B	0.37780	0.258	T	0.27971	-1.0058	8	0.87932	D	0	-4.2572	0.8829	0.01238	0.1591:0.2301:0.3774:0.2334	.	66	Q6ZRT9	.	V	25;70	ENSP00000367804:A25V	ENSP00000367804:A25V	A	-	2	0	C1orf86	2115198	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.339000	0.07832	0.500000	0.27991	0.462000	0.41574	GCG		0.652	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		3	37	0	0	0	1	0	3	37					A	2125338	G	A	2125338	2	1	162	1	0	0	0	0	0	0	0	1	2063	1088	38	1		1	C1orf86	1	2125338	Silent	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		2125338	247125283	1	2860										
ELTD1	64123	broad.mit.edu	37	chr1	79401981	79401981	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	tagattgttaaagtcctaccAtttgaatcatatgcagcttt	6	7	1	2			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr1:79401981A>T	ENST00000370742.3	-	7	939	c.876T>A	c.(874-876)aaT>aaA	p.N292K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	292					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGTCCTACCATTTGAATCAT	0.269																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.e7+1		EGF, latrophilin and seven transmembrane domain containing 1							106	112	110					1																	79401981		1807	4027	5834	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79401981A>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.877+1T>A	1.37:g.79401981A>T							p.N292_splice	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	7	939	-			292					B1AR71|Q5KU34	Splice_Site	SNP	ENST00000370742.3	37	c.877_splice	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	A	9.222	1.033608	0.19590	.	.	ENSG00000162618	ENST00000370742	T	0.10477	2.87	5.86	-2.41	0.06562	Domain of unknown function DUF3497 (1);	0.391187	0.31519	N	0.007512	T	0.02012	0.0063	L	0.43923	1.385	0.30146	N	0.803503	B	0.18166	0.026	B	0.27500	0.08	T	0.43410	-0.9393	9	.	.	.	.	0.8723	0.01217	0.471:0.1151:0.192:0.2219	.	292	Q9HBW9	ELTD1_HUMAN	K	292	ENSP00000359778:N292K	.	N	-	3	2	ELTD1	79174569	0.969000	0.33509	0.037000	0.18230	0.059000	0.15707	1.091000	0.30915	-0.369000	0.08028	0.533000	0.62120	AAT		0.269	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	8	63	0	0	0	1	0	8	63					T	79401981	A	T	79401981	5	4	162	1	0	0	0	0	0	0	1	0	5084	231	8	5	1232	5	ELTD1	1	79401981	Splice_Site	SNP	A	TCGA-WB-A81G-01A-11D-A35I-08	77276643	79401981	169848640	2	2861										
NFE2L2	4780	broad.mit.edu	37	chr2	178095647	178095647	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	tagcatgctgaaaacttcgaGatataaggtgctgagttgtt	11	5	0	3			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:178095647G>A	ENST00000397062.3	-	5	2238	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	562					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAAACTTCGAGATATAAGGTG	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"NSCLC, HNSCC"		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1684-1686)Ctc>Ttc		nuclear factor, erythroid 2-like 2							208	188	194					2																	178095647		1854	4092	5946	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095647G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1684C>T	2.37:g.178095647G>A	ENSP00000380252:p.Leu562Phe	HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F	p.L562F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2238	-			562					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1684C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138408	0.56936	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	T;T;T	0.18502	2.22;2.21;2.21	6.03	6.03	0.97812	.	0.253980	0.41823	D	0.000815	T	0.31420	0.0796	L	0.57536	1.79	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.56916	0.809;0.809	T	0.00333	-1.1810	10	0.28530	T	0.3	-6.0507	14.5599	0.68128	0.0:0.0:0.7434:0.2566	.	539;562	E9PGJ7;Q16236	.;NF2L2_HUMAN	F	546;562;539	ENSP00000380253:L546F;ENSP00000380252:L562F;ENSP00000411575:L539F	ENSP00000380252:L562F	L	-	1	0	NFE2L2	177803893	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	5.642000	0.67888	2.881000	0.98747	0.650000	0.86243	CTC		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	90	0	0	0	1	0	19	90					A	178095647	G	A	178095647	3	1	162	1	0	0	0	0	1	0	0	0	10368	942	33	3	137	3	NFE2L2	2	178095647	Missense_Mutation	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		178095647	65103726	3	2862										
ANKRD44	91526	broad.mit.edu	37	chr2	197987396	197987396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	ccacccccaggttcaggagaTgcttgacaacattaatctgt	8	12	2	2			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr2:197987396T>C	ENST00000328737.2	-	7	672	c.596A>G	c.(595-597)cAt>cGt	p.H199R	ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	224										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGGAGATGCTTGACAAC	0.438																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(595-597)cAt>cGt		ankyrin repeat domain 44							126	102	110					2																	197987396		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197987396T>C	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.596A>G	2.37:g.197987396T>C	ENSP00000331516:p.His199Arg					ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R	p.H199R			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	672	-			224					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.596A>G		.	.	.	.	.	.	.	.	.	.	T	13.25	2.181141	0.38511	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.06;-0.06;-0.06;-0.07;-0.06;-0.06	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	N	0.16567	0.415	0.41821	D	0.99002	B;P	0.40398	0.0;0.716	B;B	0.36567	0.006;0.228	T	0.54016	-0.8356	10	0.49607	T	0.09	.	15.2874	0.73838	0.0:0.0:0.0:1.0	.	152;224	F5H682;Q8N8A2-3	.;.	R	21;216;199;199;199;224;152;224	ENSP00000403415:H21R;ENSP00000282272:H216R;ENSP00000331516:H199R;ENSP00000402420:H199R;ENSP00000338794:H199R;ENSP00000387141:H224R;ENSP00000437825:H152R;ENSP00000387233:H224R	ENSP00000282272:H216R	H	-	2	0	ANKRD44	197695641	1.000000	0.71417	0.992000	0.48379	0.902000	0.53008	4.760000	0.62235	2.248000	0.74166	0.459000	0.35465	CAT		0.438	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		6	62	0	0	0	1	0	6	62					C	197987396	T	C	197987396	3	2	162	1	0	0	0	0	1	0	0	0	672	1464	51	4	2243	4	ANKRD44	2	197987396	Missense_Mutation	SNP	T	TCGA-WB-A81G-01A-11D-A35I-08	19891749	197987396	45211977	4	2863										
UGT8	7368	broad.mit.edu	37	chr4	115544471	115544471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	cctaatgatatgtgtggattTgtgatagctcatcttttagg	10	5	2	2			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr4:115544471T>C	ENST00000310836.6	+	2	957	c.435T>C	c.(433-435)ttT>ttC	p.F145F	UGT8_ENST00000394511.3_Silent_p.F145F	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	145					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TGTGTGGATTTGTGATAGCTC	0.463																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(433-435)ttT>ttC		UDP glycosyltransferase 8							172	167	169					4																	115544471		2203	4300	6503	SO:0001819	synonymous_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544471T>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.435T>C	4.37:g.115544471T>C						UGT8_ENST00000394511.3_Silent_p.F145F	p.F145F	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	957	+		Ovarian(17;0.156)	145					B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	c.435T>C	CCDS3705.1																																																																																				0.463	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		4	129	0	0	0	1	0	4	129					C	115544471	T	C	115544471	2	2	162	1	0	0	0	0	0	0	0	1	16962	1809	63	4		4	UGT8	4	115544471	Silent	SNP	T	TCGA-WB-A81G-01A-11D-A35I-08		115544471	75609805	5	2864										
AHRR	57491	broad.mit.edu	37	chr5	434411	434411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	gcaaggtgtaccgatgcctcCgggggacctgtgtggtccga	16	11	0	0			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr5:434411C>T	ENST00000505113.1	+	11	1612	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AHRR_ENST00000506456.1_Missense_Mutation_p.P379L|AHRR_ENST00000512529.1_Missense_Mutation_p.P369L|AHRR_ENST00000316418.5_Missense_Mutation_p.P541L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	523					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGATGCCTCCGGGGGACCTG	0.617																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1621-1623)cCg>cTg		aryl-hydrocarbon receptor repressor							68	75	73					5																	434411		2202	4299	6501	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:434411C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1568C>T	5.37:g.434411C>T	ENSP00000424601:p.Pro523Leu					AHRR_ENST00000506456.1_Missense_Mutation_p.P379L|AHRR_ENST00000505113.1_Missense_Mutation_p.P523L|AHRR_ENST00000512529.1_Missense_Mutation_p.P369L	p.P541L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		12	1666	+			523					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1622C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090857	0.20471	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.50277	2.15;2.15;1.85;1.85;0.75	4.27	-1.12	0.09808	.	1.214040	0.05658	N	0.586331	T	0.27489	0.0675	N	0.17082	0.46	0.09310	N	1	B;B;B	0.34255	0.059;0.013;0.445	B;B;B	0.22386	0.012;0.003;0.039	T	0.12734	-1.0536	10	0.36615	T	0.2	.	8.6194	0.33851	0.0:0.5175:0.0:0.4825	.	379;523;541	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	L	523;541;369;379;178	ENSP00000424601:P523L;ENSP00000323816:P541L;ENSP00000424880:P369L;ENSP00000426932:P379L;ENSP00000426076:P178L	ENSP00000323816:P541L	P	+	2	0	AHRR	487411	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	-0.542000	0.06249	-0.241000	0.12123	CCG		0.617	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		5	15	0	0	0	1	0	5	15					T	434411	C	T	434411	3	4	162	1	0	0	0	0	1	0	0	0	417	652	23	2	1668	2	AHRR	5	434411	Missense_Mutation	SNP	C	TCGA-WB-A81G-01A-11D-A35I-08		434411	180480849	6	2865										
OSMR	9180	broad.mit.edu	37	chr5	38904125	38904128	+	Splice_Site	DEL	AAGT	AAGT	-													0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	tggtgaaggaaaaatgatgcAagtaagaaccctgcttaatt							TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr5:38904125_38904128delAAGT	ENST00000274276.3	+	8	1535_1536	c.1133_1134delAAGT	c.(1132-1134)caa>c	p.Q378fs		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	378	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAATGATGCAAGTAAGAACCCTG	0.343																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.e8+1		oncostatin M receptor																																				SO:0001630	splice_region_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38904125_38904128delAAGT	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1134+1AAGT>-	5.37:g.38904125_38904128delAAGT							p.378_splice	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			8	1535_1536	+	all_lung(31;0.000365)		378			Fibronectin type-III 1.		Q6P4E8|Q96QJ6	Splice_Site	DEL	ENST00000274276.3	37	c.1134_splice	CCDS3928.1																																																																																				0.343	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	Frame_Shift_Del	11	25						11	25	---	---	---	---	-	38904128	AAGT	-	38904125	8	5	162	1	0	1	0	1	0	0	1	0	11292	144	5	0	1197	0	OSMR	5	38904125	Splice_Site	DEL	AAGT	TCGA-WB-A81G-01A-11D-A35I-08	38469714	38904125	142011135	7	2866										
DCN	1634	broad.mit.edu	37	chr12	91550888	91550888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	gatattggtatcagcaatgcGgatgtaggagagcttcttca	12	6	3	1			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr12:91550888G>A	ENST00000052754.5	-	5	1117	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000228329.5_Missense_Mutation_p.R97C|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	206					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCAGCAATGCGGATGTAGGAG	0.378																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(616-618)Cgc>Tgc		decorin							137	131	133					12																	91550888		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91550888G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.616C>T	12.37:g.91550888G>A	ENSP00000052754:p.Arg206Cys					DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.R97C|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron	p.R206C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			5	1117	-			206					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.616C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250378	0.80024	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.58060	0.36;3.57;0.36;0.36;3.57	5.69	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81324	-0.0984	10	0.72032	D	0.01	.	16.085	0.81038	0.0:0.0:0.8656:0.1344	.	206;97	P07585;P07585-2	PGS2_HUMAN;.	C	206;97;206;206;97	ENSP00000052754:R206C;ENSP00000228329:R97C;ENSP00000376862:R206C;ENSP00000447654:R206C;ENSP00000413723:R97C	ENSP00000052754:R206C	R	-	1	0	DCN	90075019	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.175000	0.71949	2.666000	0.90696	0.585000	0.79938	CGC		0.378	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		4	77	0	0	0	1	0	4	77					A	91550888	G	A	91550888	3	1	162	1	0	0	0	0	1	0	0	0	4297	1116	39	2	479	2	DCN	12	91550888	Missense_Mutation	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		91550888	42301007	8	2867										
SCNN1B	6338	broad.mit.edu	37	chr16	23387059	23387059	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	gaaccccctaccctccccagGcctgtcttcgctcctgcttc	6	21	1	0			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr16:23387059G>T	ENST00000343070.2	+	8	1329	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	SCNN1B_ENST00000568085.1_Splice_Site_p.A349S|SCNN1B_ENST00000568923.1_Splice_Site_p.A358S|SCNN1B_ENST00000307331.5_Splice_Site_p.A430S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	385					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTCCCCAGGCCTGTCTTCG	0.557																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.e8-1		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						186	150	162					16																	23387059		2197	4300	6497	SO:0001630	splice_region_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23387059G>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10600	protein-coding gene	gene with protein product	"Liddle syndrome"	600760	"sodium channel, nonvoltage-gated 1, beta", "sodium channel, non-voltage-gated 1, beta"				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1153-1G>T	16.37:g.23387059G>T						SCNN1B_ENST00000568085.1_Splice_Site_p.A349_splice|SCNN1B_ENST00000568923.1_Splice_Site_p.A358_splice|SCNN1B_ENST00000307331.5_Splice_Site_p.A430_splice	p.A385_splice	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	8	1329	+			385					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Splice_Site	SNP	ENST00000343070.2	37	c.1152_splice	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	g	13.34	2.208992	0.39003	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.66815	-0.23;-0.23	4.76	4.76	0.60689	Na+ channel, amiloride-sensitive, conserved site (1);	0.472610	0.20949	N	0.082787	T	0.62417	0.2426	L	0.43554	1.36	0.58432	D	0.999995	B	0.32876	0.388	B	0.40506	0.331	T	0.58994	-0.7537	9	.	.	.	-13.5574	12.2562	0.54625	0.0:0.0:0.8301:0.1699	.	385	P51168	SCNNB_HUMAN	S	385;430	ENSP00000345751:A385S;ENSP00000302874:A430S	.	A	+	1	0	SCNN1B	23294560	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.131000	0.57970	2.343000	0.79666	0.651000	0.88453	GCC		0.557	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		Missense_Mutation	4	68	1	0	0.0215528	1	0.0215528	4	68					T	23387059	G	T	23387059	5	4	162	1	0	0	0	0	0	0	1	0	13928	1217	42	5	1179	5	SCNN1B	16	23387059	Splice_Site	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		23387059	66967694	9	2868										
LAMA3	3909	broad.mit.edu	37	chr18	21523936	21523936	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	atgatgggaaatggcacacgGtaagagctggggctgtgtca	16	6	1	2			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr18:21523936G>A	ENST00000313654.9	+	69	9451		c.e69+1		LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATGGCACACGGTAAGAGCTGG	0.478																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	GRCh37	CS020062	LAMA3	S		c.e69+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						63	56	58					18																	21523936		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21523936G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9210+1G>A	18.37:g.21523936G>A						LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site		NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			69	9451	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)							B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37		CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073374	0.76415	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5778	0.91161	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19777934	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.408000	0.80041	2.617000	0.88574	0.655000	0.94253	.		0.478	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Intron	3	20	0	0	0	1	0	3	20					A	21523936	G	A	21523936	5	1	162	1	0	0	0	0	0	0	1	0	8607	1275	44	3	9660	3	LAMA3	18	21523936	Splice_Site	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08		21523936	56553312	10	2869										
NDUFS7	374291	broad.mit.edu	37	chr19	1395440	1395440	+	Frame_Shift_Del	DEL	A	A	-													0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	acggcatcctgcagctgcagAggaagatcaagcgggagcgg							TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:1395440delA	ENST00000233627.9	+	8	891	c.595delA	c.(595-597)aggfs	p.R199fs	AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000313408.7_3'UTR|AC005329.7_ENST00000585596.1_RNA|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	199					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	GCAGCTGCAGAGGAAGATCAA	0.706																																						ENST00000233627.9																			0				ovary(1)	1						c.(595-597)ggfs		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						23	21	22					19																	1395440		2192	4283	6475	SO:0001589	frameshift_variant	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1395440delA	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"Mitochondrial respiratory chain complex / Complex I"	7714	protein-coding gene	gene with protein product	"complex I 20kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"	601825	"NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.595delA	19.37:g.1395440delA	ENSP00000233627:p.Arg199fs					NDUFS7_ENST00000313408.7_3'UTR|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000540530.1_3'UTR	p.R199fs	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	891	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	199					B3KRI2|Q2T9H7|Q9BV17	Frame_Shift_Del	DEL	ENST00000233627.9	37	c.595delA	CCDS12063.1																																																																																				0.706	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		2	4						2	4	---	---	---	---	-	1395440	A	-	1395440	7	5	162	1	0	1	0	1	0	0	0	0	10297	295	11	0	625	0	NDUFS7	19	1395440	Frame_Shift_Del	DEL	A	TCGA-WB-A81G-01A-11D-A35I-08		1395440	57733543	11	2870										
SHKBP1	92799	broad.mit.edu	37	chr19	41094581	41094581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	gtctgtgactcgcttccgcgGcatgatttccacccagcccg	10	16	1	2			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:41094581G>A	ENST00000291842.5	+	14	1437	c.1388G>A	c.(1387-1389)gGc>gAc	p.G463D	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	463					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCTTCCGCGGCATGATTTCC	0.607																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1387-1389)gGc>gAc		SH3KBP1 binding protein 1							153	138	143					19																	41094581		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41094581G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1388G>A	19.37:g.41094581G>A	ENSP00000291842:p.Gly463Asp					SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR	p.G463D	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	1437	+			463					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1388G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240886	0.79912	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.75589	-0.95	4.21	3.17	0.36434	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.86178	2.8	0.80722	D	1	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.95;1.0;0.957	D;D;D;P;D;P	0.97110	1.0;1.0;0.999;0.752;0.999;0.711	D	0.86888	0.2046	10	0.87932	D	0	-0.906	11.1437	0.48417	0.0927:0.0:0.9073:0.0	.	341;243;386;300;463;463	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	D	463;243	ENSP00000291842:G463D	ENSP00000291842:G463D	G	+	2	0	SHKBP1	45786421	1.000000	0.71417	0.976000	0.42696	0.913000	0.54294	9.141000	0.94612	0.989000	0.38761	0.462000	0.41574	GGC		0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	83	0	0	0	1	0	4	83					A	41094581	G	A	41094581	3	1	162	1	0	0	0	0	1	0	0	0	14284	1203	42	3	1442	3	SHKBP1	19	41094581	Missense_Mutation	SNP	G	TCGA-WB-A81G-01A-11D-A35I-08	39699141	41094581	18034402	12	2871										
ZNF417	147687	broad.mit.edu	37	chr19	58420525	58420525	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	tgtaaggcctttctccagtgTgaacacgctgatggttaata	10	8	1	2			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chr19:58420525T>C	ENST00000312026.5	-	3	1285	c.1121A>G	c.(1120-1122)cAc>cGc	p.H374R	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R|ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TTCTCCAGTGTGAACACGCTG	0.463																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1120-1122)cAc>cGc		zinc finger protein 417							133	125	128					19																	58420525		2203	4300	6503	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420525T>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1121A>G	19.37:g.58420525T>C	ENSP00000311319:p.His374Arg					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R|ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R	p.H374R	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1285	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	374					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1121A>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	15.93	2.978987	0.53827	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.67523	-0.27;-0.27	1.66	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83390	0.5244	H	0.94423	3.535	0.30241	N	0.795025	P;D	0.67145	0.469;0.996	B;D	0.69824	0.329;0.966	T	0.77175	-0.2684	9	0.87932	D	0	.	7.3804	0.26851	0.0:0.0:0.0:1.0	.	374;374	F5H0M9;Q8TAU3	.;ZN417_HUMAN	R	374;175	ENSP00000311319:H374R;ENSP00000442760:H175R	ENSP00000311319:H374R	H	-	2	0	ZNF417	63112337	1.000000	0.71417	0.031000	0.17742	0.115000	0.19883	1.968000	0.40500	1.025000	0.39708	0.254000	0.18369	CAC		0.463	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		30	79	0	0	0	1	0	30	79					C	58420525	T	C	58420525	3	2	162	1	0	0	0	0	1	0	0	0	17891	1696	59	4	610	4	ZNF417	19	58420525	Missense_Mutation	SNP	T	TCGA-WB-A81G-01A-11D-A35I-08	17325944	58420525	708458	13	2872										
ZNF185	7739	broad.mit.edu	37	chrX	152085712	152085712	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.36559139784946	NA	1.36559139784946	1	1	0	ctcccactggctacatcatcCggtaagtgaccgcaggactc	9	15	1	1			TCGA-WB-A81G-01A-11D-A35I-08	TCGA-WB-A81G-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9b49fb-6eb3-41d2-9bce-dcebb2310d46	a93253fb-3786-4518-9084-dcd9dab7bd9a	g.chrX:152085712C>A	ENST00000370268.4	+	4	299	c.262C>A	c.(262-264)Cgg>Agg	p.R88R	ZNF185_ENST00000449285.2_Splice_Site_p.R88R|ZNF185_ENST00000539731.1_Splice_Site_p.R88R|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000535861.1_Splice_Site_p.R88R|ZNF185_ENST00000318504.7_Splice_Site_p.R88R|ZNF185_ENST00000370270.2_Splice_Site_p.R88R|ZNF185_ENST00000318529.8_5'Flank			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	88						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CTACATCATCCGGTAAGTGAC	0.622																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.e4+1		zinc finger protein 185 (LIM domain)							69	73	72					X																	152085712		2067	4177	6244	SO:0001630	splice_region_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152085712C>A	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.263+1C>A	X.37:g.152085712C>A						ZNF185_ENST00000539731.1_Splice_Site_p.R88_splice|ZNF185_ENST00000318504.7_Splice_Site_p.R88_splice|ZNF185_ENST00000449285.2_Splice_Site_p.R88_splice|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Splice_Site_p.R88_splice	p.R88_splice	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			4	310	+	Acute lymphoblastic leukemia(192;6.56e-05)		88					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Splice_Site	SNP	ENST00000370268.4	37	c.263_splice	CCDS48184.1																																																																																				0.622	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150	Silent	3	29	1	0	0.004672	1	0.00511695	3	29					A	152085712	C	A	152085712	5	1	162	1	0	0	0	0	0	0	1	0	17749	666	23	5	276	5	ZNF185	23	152085712	Splice_Site	SNP	C	TCGA-WB-A81G-01A-11D-A35I-08		152085712	3184848	14	2873										
RPS6KC1	26750	broad.mit.edu	37	chr1	213415627	213415627	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	ttgaacccaaacaacatcttAttgaatgatagaggtcagga	8	7	2	4			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr1:213415627A>T	ENST00000366960.3	+	11	2958	c.2808A>T	c.(2806-2808)ttA>ttT	p.L936F	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L924F|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	936	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAACATCTTATTGAATGATA	0.398																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2806-2808)ttA>ttT		ribosomal protein S6 kinase, 52kDa, polypeptide 1							83	86	85					1																	213415627		2145	4265	6410	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415627A>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2808A>T	1.37:g.213415627A>T	ENSP00000355927:p.Leu936Phe					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L639F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L724F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L924F|RPS6KC1_ENST00000490299.1_3'UTR	p.L936F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2958	+			936			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2808A>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951589	0.53186	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.88746	0.6520	M	0.69185	2.1	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89836	0.3999	10	0.87932	D	0	-25.6382	16.0707	0.80928	1.0:0.0:0.0:0.0	.	724;936;924	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	F	724;936;924;639	ENSP00000442306:L724F;ENSP00000355927:L936F;ENSP00000355926:L924F;ENSP00000439282:L639F	ENSP00000355926:L924F	L	+	3	2	RPS6KC1	211482250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.602000	0.54066	2.194000	0.70268	0.533000	0.62120	TTA		0.398	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		14	119	0	0	0	1	0	14	119					T	213415627	A	T	213415627	3	4	163	1	0	0	0	0	1	0	0	0	13658	446	16	5	2850	5	RPS6KC1	1	213415627	Missense_Mutation	SNP	A	TCGA-WB-A81H-01A-11D-A35I-08		213415627	35834994	1	2874										
RTN4	57142	broad.mit.edu	37	chr2	55252907	55252910	+	Frame_Shift_Del	DEL	AAAT	AAAT	-													0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	tcatattctatcattgactcAaatgaagtctcagtgagact							TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr2:55252907_55252910delAAAT	ENST00000337526.6	-	3	2568_2571	c.2325_2328delATTT	c.(2323-2328)tcatttfs	p.SF775fs	RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	775					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCATTGACTCAAATGAAGTCTCAG	0.363																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2323-2328)tcfs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252907_55252910delAAAT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2325_2328delATTT	2.37:g.55252907_55252910delAAAT	ENSP00000337838:p.Ser775fs					RTN4_ENST00000357376.3_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000404909.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000405240.1_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Del_p.SF569fs|RTN4_ENST00000354474.6_Frame_Shift_Del_p.SF543fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron	p.SF775fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2568_2571	-			775					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Del	DEL	ENST00000337526.6	37	c.2325_2328delATTT	CCDS42684.1																																																																																				0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			24	89						24	89	---	---	---	---	-	55252910	AAAT	-	55252907	7	5	163	1	0	1	0	1	0	0	0	0	13728	127	5	0	1316	0	RTN4	2	55252907	Frame_Shift_Del	DEL	AAAT	TCGA-WB-A81H-01A-11D-A35I-08		55252907	187946466	2	2875										
LANCL1	10314	broad.mit.edu	37	chr2	211302429	211302429	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	agtaccttataggcctggatGagcatgtagattaccccagg	11	9	0	2			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr2:211302429G>A	ENST00000443314.1	-	6	1200	c.858C>T	c.(856-858)ctC>ctT	p.L286L	LANCL1_ENST00000431941.2_Silent_p.L286L|LANCL1_ENST00000233714.4_Silent_p.L286L|LANCL1_ENST00000441020.3_Silent_p.L286L|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Silent_p.L286L			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	286					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		AGGCCTGGATGAGCATGTAGA	0.358																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(856-858)ctC>ctT		LanC lantibiotic synthetase component C-like 1 (bacterial)							63	62	63					2																	211302429		2203	4300	6503	SO:0001819	synonymous_variant	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211302429G>A	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.858C>T	2.37:g.211302429G>A						LANCL1_ENST00000233714.4_Silent_p.L286L|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_Silent_p.L286L|LANCL1_ENST00000441020.3_Silent_p.L286L|LANCL1_ENST00000431941.2_Silent_p.L286L|AC007970.1_ENST00000433296.1_RNA	p.L286L			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	6	1200	-			286						Silent	SNP	ENST00000443314.1	37	c.858C>T	CCDS2392.1																																																																																				0.358	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		5	37	0	0	0	1	0	5	37					A	211302429	G	A	211302429	2	1	163	1	0	0	0	0	0	0	0	1	8620	1277	45	3		3	LANCL1	2	211302429	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	156049522	211302429	31896944	3	2876										
PROL1	58503	broad.mit.edu	37	chr4	71275374	71275374	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	aaacctacatttcccactaaGaccttactatgtaggaccta	4	12	0	1			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:71275374G>A	ENST00000399575.2	+	3	503	c.329G>A	c.(328-330)aGa>aAa	p.R110K	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	110	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTCCCACTAAGACCTTACTAT	0.403																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(328-330)aGa>aAa		proline rich, lacrimal 1							212	202	205					4																	71275374		1860	4102	5962	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275374G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.329G>A	4.37:g.71275374G>A	ENSP00000382485:p.Arg110Lys					PROL1_ENST00000514338.1_3'UTR	p.R110K	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	503	+		all_hematologic(202;0.196)	110			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.329G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	G	5.150	0.213272	0.09757	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.97	-0.549	0.11829	.	.	.	.	.	T	0.32406	0.0828	L	0.48642	1.525	0.09310	N	1	B	0.27166	0.17	B	0.32583	0.148	T	0.41980	-0.9478	8	0.87932	D	0	.	1.7832	0.03036	0.2956:0.0:0.4074:0.297	.	110	Q99935	PROL1_HUMAN	K	110	.	ENSP00000382485:R110K	R	+	2	0	PROL1	71309963	0.000000	0.05858	0.010000	0.14722	0.027000	0.11550	-0.540000	0.06106	-0.173000	0.10761	0.591000	0.81541	AGA		0.403	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		20	195	0	0	0	1	0	20	195					A	71275374	G	A	71275374	3	1	163	1	0	0	0	0	1	0	0	0	12554	942	33	3	335	3	PROL1	4	71275374	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		71275374	119878902	4	2877										
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	20	0	0	0	1	0	4	20					T	140811108	C	T	140811108	2	4	163	1	0	0	0	0	0	0	0	1	9207	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-WB-A81H-01A-11D-A35I-08	69535734	140811108	50343168	5	2878										
TMEM144	55314	broad.mit.edu	37	chr4	159158779	159158779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	agaaatgatagtatatatgcAggggcaagccaatatggtga	12	4	0	3			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr4:159158779A>G	ENST00000296529.6	+	9	1186	c.666A>G	c.(664-666)gcA>gcG	p.A222A	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	222						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GTATATATGCAGGGGCAAGCC	0.323																																						ENST00000296529.6																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(664-666)gcA>gcG		transmembrane protein 144							56	58	57					4																	159158779		2203	4300	6503	SO:0001819	synonymous_variant	55314					integral to membrane		g.chr4:159158779A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.666A>G	4.37:g.159158779A>G						TMEM144_ENST00000503404.1_3'UTR	p.A222A	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	9	1186	+	all_hematologic(180;0.24)	Renal(120;0.0854)	222					D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	c.666A>G	CCDS3799.1																																																																																				0.323	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		10	38	0	0	0	1	0	10	38					G	159158779	A	G	159158779	2	3	163	1	0	0	0	0	0	0	0	1	16055	175	7	4		4	TMEM144	4	159158779	Silent	SNP	A	TCGA-WB-A81H-01A-11D-A35I-08	18347671	159158779	31995497	6	2879										
ANKS1A	23294	broad.mit.edu	37	chr6	34935028	34935028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	cctgatagcatgtggagaggGccaaatgtgaactgtgttga	14	6	0	4			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr6:34935028G>A	ENST00000360359.3	+	2	348	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_ENST00000535627.1_Silent_p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	70					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(208-210)ggG>ggA		ankyrin repeat and sterile alpha motif domain containing 1A							212	186	195					6																	34935028		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34935028G>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.210G>A	6.37:g.34935028G>A						ANKS1A_ENST00000535627.1_Silent_p.G70G	p.G70G	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			2	348	+			70					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.210G>A	CCDS4798.1																																																																																				0.423	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		4	121	0	0	0	1	0	4	121					A	34935028	G	A	34935028	2	1	163	1	0	0	0	0	0	0	0	1	688	1190	42	3		3	ANKS1A	6	34935028	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		34935028	136180039	7	2880										
SYNE1	23345	broad.mit.edu	37	chr6	152472814	152472814	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	gtctcaaactcctcacgctgGccaataaaatgctggaaggc	9	12	2	0			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr6:152472814G>A	ENST00000367255.5	-	135	24925	c.24324C>T	c.(24322-24324)ggC>ggT	p.G8108G	SYNE1_ENST00000341594.5_Silent_p.G7720G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.G2632G|SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000539504.1_Silent_p.G263G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8108					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCACGCTGGCCAATAAAAT	0.428										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24322-24324)ggC>ggT		spectrin repeat containing, nuclear envelope 1							33	33	33					6																	152472814		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152472814G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24324C>T	6.37:g.152472814G>A		HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Silent_p.G263G|SYNE1_ENST00000265368.4_Silent_p.G8108G|SYNE1_ENST00000341594.5_Silent_p.G7720G|SYNE1_ENST00000539504.1_Silent_p.G263G|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.G8037G|SYNE1_ENST00000423061.1_Silent_p.G8037G|SYNE1_ENST00000356820.4_Silent_p.G2632G	p.G8108G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	135	24925	-		Ovarian(120;0.0955)	8108					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.24324C>T	CCDS5236.2																																																																																				0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	28	0	0	0	1	0	7	28					A	152472814	G	A	152472814	2	1	163	1	0	0	0	0	0	0	0	1	15442	1190	42	3		3	SYNE1	6	152472814	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	117537786	152472814	18642253	8	2881										
NFE2L3	9603	broad.mit.edu	37	chr7	26224911	26224914	+	Frame_Shift_Del	DEL	AGAT	AGAT	-													0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	agtagataccttgaagacacAgatagaaacttgagccgtga					rs371060821|rs367544069		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:26224911_26224914delAGAT	ENST00000056233.3	+	4	1852_1855	c.1593_1596delAGAT	c.(1591-1596)acagatfs	p.TD531fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	531					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TTGAAGACACAGATAGAAACTTGA	0.431																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1591-1596)acfs		nuclear factor, erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224911_26224914delAGAT	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1593_1596delAGAT	7.37:g.26224911_26224914delAGAT	ENSP00000056233:p.Thr531fs						p.TD531fs	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1852_1855	+			531					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Del	DEL	ENST00000056233.3	37	c.1593_1596delAGAT	CCDS5396.1																																																																																				0.431	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			31	85						31	85	---	---	---	---	-	26224914	AGAT	-	26224911	7	5	163	1	0	1	0	1	0	0	0	0	10369	175	7	0	1607	0	NFE2L3	7	26224911	Frame_Shift_Del	DEL	AGAT	TCGA-WB-A81H-01A-11D-A35I-08		26224911	132913752	9	2882										
TYW1B	441250	broad.mit.edu	37	chr7	72081809	72081809	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	actgcttgctgaactttctcTgcagtaggtaacgccctgtg	10	11	1	1	rs201876441	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195	152	165					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	51	0	0	0	1	0	4	51					C	72081809	T	C	72081809	1	2	163	0	1	0	0	0	0	0	0	0	16816	1588	55	4		4	TYW1B	7	72081809	RNA	SNP	T	TCGA-WB-A81H-01A-11D-A35I-08	45856898	72081809	87056854	10	2883										
POM121C	100101267	broad.mit.edu	37	chr7	75066839	75066839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	aggaactggtaatggcattgCggctggagctagggatgcca	16	7	0	0	rs587742458	byFrequency	TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr7:75066839C>T	ENST00000257665.5	-	5	1159	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	POM121C_ENST00000453279.2_Missense_Mutation_p.R145H|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	387	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AATGGCATTGCGGCTGGAGCT	0.502													.|||	2	0.000399361	0	0	5008	,	,		16806	0		0	False		,,,				2504	0.002					ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(433-435)cGc>cAc		POM121 transmembrane nucleoporin C							203	207	205					7																	75066839		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75066839C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1160G>A	7.37:g.75066839C>T	ENSP00000257665:p.Arg387His					POM121C_ENST00000257665.5_Missense_Mutation_p.R387H	p.R145H	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			7	1298	-			387			Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.434G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.091739	0.76756	.	.	ENSG00000135213	ENST00000257665;ENST00000453279;ENST00000439629	T;T;T	0.20881	2.04;2.04;2.04	4.17	4.17	0.49024	.	0.000000	0.42294	D	0.000726	T	0.33527	0.0866	M	0.64567	1.98	0.39228	D	0.963624	D	0.63880	0.993	P	0.51945	0.685	T	0.35375	-0.9791	10	0.87932	D	0	.	14.0157	0.64523	0.0:1.0:0.0:0.0	.	387	A8CG34	P121C_HUMAN	H	387;145;17	ENSP00000257665:R387H;ENSP00000414208:R145H;ENSP00000410033:R17H	ENSP00000257665:R387H	R	-	2	0	POM121C	74904775	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.989000	0.70587	2.050000	0.60909	0.505000	0.49811	CGC		0.502	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		4	174	0	0	0	1	0	4	174					T	75066839	C	T	75066839	3	4	163	1	0	0	0	0	1	0	0	0	12240	768	27	1	2565	1	POM121C	7	75066839	Missense_Mutation	SNP	C	TCGA-WB-A81H-01A-11D-A35I-08	2985030	75066839	84071824	11	2884										
ZNF438	220929	broad.mit.edu	37	chr10	31137681	31137681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	tgatgaagtttcatgtgtgtGctcaggctgccaggacgtac	13	8	2	2			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr10:31137681G>A	ENST00000361310.3	-	6	1982	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	ZNF438_ENST00000413025.1_Silent_p.S551S|ZNF438_ENST00000442986.1_Silent_p.S551S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000538351.2_Silent_p.S502S|ZNF438_ENST00000436087.2_Silent_p.S551S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	551					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCATGTGTGTGCTCAGGCTGC	0.473																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1504-1506)agC>agT		zinc finger protein 438							226	218	221					10																	31137681		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137681G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1653C>T	10.37:g.31137681G>A						ZNF438_ENST00000436087.2_Silent_p.S551S|ZNF438_ENST00000331737.6_Silent_p.S541S|ZNF438_ENST00000375311.1_Silent_p.S115S|ZNF438_ENST00000452305.1_Silent_p.S541S|ZNF438_ENST00000361310.3_Silent_p.S551S|ZNF438_ENST00000444692.2_Silent_p.S541S|ZNF438_ENST00000442986.1_Silent_p.S551S|ZNF438_ENST00000413025.1_Silent_p.S551S	p.S502S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	2260	-		Prostate(175;0.0587)	551					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1506C>T	CCDS7168.1																																																																																				0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		5	214	0	0	0	1	0	5	214					A	31137681	G	A	31137681	2	1	163	1	0	0	0	0	0	0	0	1	17907	1310	46	3		3	ZNF438	10	31137681	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		31137681	104397066	12	2885										
MUC5B	727897	broad.mit.edu	37	chr11	1269120	1269120	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	ttctgctgcaactacggccaCtgccccagcaccccggccac	8	20	1	0			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:1269120C>A	ENST00000529681.1	+	31	11068	c.11010C>A	c.(11008-11010)caC>caA	p.H3670Q	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.H3673Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3670	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTACGGCCACTGCCCCAGCA	0.597																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11017-11019)caC>caA		mucin 5B, oligomeric mucus/gel-forming							53	72	66					11																	1269120		1974	4120	6094	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269120C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11010C>A	11.37:g.1269120C>A	ENSP00000436812:p.His3670Gln					MUC5B_ENST00000529681.1_Missense_Mutation_p.H3670Q|RP11-532E4.2_ENST00000532061.2_RNA	p.H3673Q			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11077	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3670	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11019C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	9.657	1.142995	0.21205	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15372	2.43;2.62	3.35	1.41	0.22369	.	.	.	.	.	T	0.26085	0.0636	L	0.34521	1.04	0.09310	N	1	D;B	0.63046	0.992;0.148	D;B	0.69824	0.966;0.022	T	0.09400	-1.0676	9	0.87932	D	0	.	7.4236	0.27085	0.0:0.7042:0.0:0.2958	.	4198;3673	A7Y9J9;E9PBJ0	.;.	Q	3670;3673;3642;3575	ENSP00000436812:H3670Q;ENSP00000415793:H3673Q	ENSP00000343037:H3642Q	H	+	3	2	MUC5B	1225696	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.786000	0.26844	0.238000	0.21222	-0.616000	0.04050	CAC		0.597	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	116	1	0	7.93312e-07	1	8.16645e-07	12	116					A	1269120	C	A	1269120	3	1	163	1	0	0	0	0	1	0	0	0	9979	564	20	5	11141	5	MUC5B	11	1269120	Missense_Mutation	SNP	C	TCGA-WB-A81H-01A-11D-A35I-08		1269120	133737396	13	2886										
OR8H3	390152	broad.mit.edu	37	chr11	55890365	55890365	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	tgcatttctgtgactcaaacAtaattcatcactttttctgt	4	9	5	1			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:55890365A>G	ENST00000313472.3	+	1	517	c.517A>G	c.(517-519)Ata>Gta	p.I173V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGACTCAAACATAATTCATCA	0.438																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(517-519)Ata>Gta		olfactory receptor, family 8, subfamily H, member 3							252	226	235					11																	55890365		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890365A>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.517A>G	11.37:g.55890365A>G	ENSP00000323928:p.Ile173Val						p.I173V	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	517	+	Esophageal squamous(21;0.00693)		173					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.517A>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.713031	0.00094	.	.	ENSG00000181761	ENST00000313472	T	0.00099	8.73	3.19	0.0377	0.14197	GPCR, rhodopsin-like superfamily (1);	0.419315	0.20509	N	0.090935	T	0.00039	0.0001	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34502	-0.9826	10	0.02654	T	1	.	5.0106	0.14310	0.355:0.0:0.5102:0.1348	.	173	Q8N146	OR8H3_HUMAN	V	173	ENSP00000323928:I173V	ENSP00000323928:I173V	I	+	1	0	OR8H3	55646941	0.000000	0.05858	0.041000	0.18516	0.339000	0.28857	-0.476000	0.06591	-0.104000	0.12154	0.145000	0.16022	ATA		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		4	228	0	0	0	1	0	4	228					G	55890365	A	G	55890365	3	3	163	1	0	0	0	0	1	0	0	0	11239	217	8	4	519	4	OR8H3	11	55890365	Missense_Mutation	SNP	A	TCGA-WB-A81H-01A-11D-A35I-08	54621245	55890365	79116151	14	2887										
DIXDC1	85458	broad.mit.edu	37	chr11	111853098	111853098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	ccattatctcgagactggcgGccagggagcctggaacctat	12	12	1	1			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr11:111853098G>A	ENST00000440460.2	+	7	1101	c.804G>A	c.(802-804)cgG>cgA	p.R268R	DIXDC1_ENST00000315253.5_Silent_p.R57R|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	268	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GAGACTGGCGGCCAGGGAGCC	0.423											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(802-804)cgG>cgA		DIX domain containing 1							38	41	40					11																	111853098		1857	4097	5954	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111853098G>A	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.804G>A	11.37:g.111853098G>A			OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1438	DIXDC1_ENST00000315253.5_Silent_p.R57R|DIXDC1_ENST00000389821.4_3'UTR	p.R268R	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	7	1101	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	268			Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.804G>A																																																																																					0.423	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		3	26	0	0	0	1	0	3	26					A	111853098	G	A	111853098	2	1	163	1	0	0	0	0	0	0	0	1	4541	1190	42	3		3	DIXDC1	11	111853098	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	55962733	111853098	23153418	15	2888										
NAV3	89795	broad.mit.edu	37	chr12	78443848	78443848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	gcagaatttagaagagactaTgtccagtcttcgtgggactc	11	8	1	3			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr12:78443848T>C	ENST00000397909.2	+	10	2272	c.2099T>C	c.(2098-2100)aTg>aCg	p.M700T	NAV3_ENST00000228327.6_Missense_Mutation_p.M700T|NAV3_ENST00000536525.2_Missense_Mutation_p.M700T|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.M700T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	700						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAGAGACTATGTCCAGTCTT	0.328										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2098-2100)aTg>aCg		neuron navigator 3							87	84	85					12																	78443848		1831	4082	5913	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78443848T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2099T>C	12.37:g.78443848T>C	ENSP00000381007:p.Met700Thr	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.M700T|NAV3_ENST00000228327.6_Missense_Mutation_p.M700T|NAV3_ENST00000266692.7_Missense_Mutation_p.M700T	p.M700T			Q8IVL0	NAV3_HUMAN			10	2272	+			700					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2099T>C		.	.	.	.	.	.	.	.	.	.	T	24.6	4.548369	0.86127	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.58	5.58	0.84498	.	0.000000	0.48767	U	0.000174	T	0.38480	0.1042	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.992	D;D;D	0.85130	0.997;0.957;0.974	T	0.11867	-1.0570	9	.	.	.	-19.6633	15.758	0.78051	0.0:0.0:0.0:1.0	.	700;700;700	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	T	700	ENSP00000446132:M700T;ENSP00000381007:M700T;ENSP00000228327:M700T;ENSP00000266692:M700T	.	M	+	2	0	NAV3	76967979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.127000	0.65507	0.528000	0.53228	ATG		0.328	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		5	39	0	0	0	1	0	5	39					C	78443848	T	C	78443848	3	2	163	1	0	0	0	0	1	0	0	0	10185	1464	51	4	2137	4	NAV3	12	78443848	Missense_Mutation	SNP	T	TCGA-WB-A81H-01A-11D-A35I-08		78443848	55408047	16	2889										
HS3ST3B1	9953	broad.mit.edu	37	chr17	14204904	14204904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	cggctcctaccgcagccgccGccgcccccgccgccggtgag	13	22	0	1			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:14204904G>A	ENST00000360954.2	+	1	505	c.69G>A	c.(67-69)ccG>ccA	p.P23P	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	23					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGCAgccgccgccgcccccgc	0.726																																						ENST00000360954.2																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(67-69)ccG>ccA		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							8	12	10					17																	14204904		1894	3804	5698	SO:0001819	synonymous_variant	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14204904G>A	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"Sulfotransferases, membrane-bound"	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.69G>A	17.37:g.14204904G>A							p.P23P	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	1	505	+			23					B3KN58|D3DTS6	Silent	SNP	ENST00000360954.2	37	c.69G>A	CCDS11167.1																																																																																				0.726	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041		3	4	0	0	0	1	0	3	4					A	14204904	G	A	14204904	2	1	163	1	0	0	0	0	0	0	0	1	7366	1074	38	1		1	HS3ST3B1	17	14204904	Silent	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		14204904	66990306	17	2890										
DLX4	1748	broad.mit.edu	37	chr17	48046950	48046950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	ttggcttgtcccctacaaccGcagcctcccccaatttgtcc	6	18	0	0	rs370379441		TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr17:48046950G>A	ENST00000240306.3	+	1	413	c.118G>A	c.(118-120)Gca>Aca	p.A40T	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Missense_Mutation_p.A40T	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	40				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCCTACAACCGCAGCCTCCCC	0.662																																						ENST00000240306.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(118-120)Gca>Aca		distal-less homeobox 4							88	88	88					17																	48046950		2203	4300	6503	SO:0001583	missense	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48046950G>A		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.118G>A	17.37:g.48046950G>A	ENSP00000240306:p.Ala40Thr					DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Missense_Mutation_p.A40T	p.A40T	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN			1	413	+			40	MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.118G>A	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550093	0.45383	.	.	ENSG00000108813	ENST00000240306	D	0.91351	-2.83	4.01	1.76	0.24704	.	.	.	.	.	T	0.78329	0.4266	N	0.24115	0.695	0.80722	D	1	B	0.23490	0.086	B	0.15870	0.014	T	0.65245	-0.6215	9	0.11794	T	0.64	-2.0E-4	4.6144	0.12418	0.141:0.2216:0.6374:0.0	.	40	Q92988	DLX4_HUMAN	T	40	ENSP00000240306:A40T	ENSP00000240306:A40T	A	+	1	0	DLX4	45401949	0.992000	0.36948	1.000000	0.80357	0.963000	0.63663	0.422000	0.21296	0.820000	0.34516	0.462000	0.41574	GCA		0.662	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			4	135	0	0	0	1	0	4	135					A	48046950	G	A	48046950	3	1	163	1	0	0	0	0	1	0	0	0	4573	1087	38	1	120	1	DLX4	17	48046950	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08	33842046	48046950	33148260	18	2891										
GPX4	22904	broad.mit.edu	37	chr19	1105248	1105248	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	agttttccgccaaggacatcGacgggcacatggttaacctg	11	11	0	0			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:1105248G>A	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Missense_Mutation_p.D50N|GPX4_ENST00000589115.1_Missense_Mutation_p.D50N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGACATCGACGGGCACAT	0.682																																						ENST00000354171.8																			0				endometrium(1)|kidney(2)	3						c.(148-150)Gac>Aac		glutathione peroxidase 4	Glutathione(DB00143)						40	43	42					19																	1105248		2023	4156	6179	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105248G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105248G>A						GPX4_ENST00000589115.1_Missense_Mutation_p.D50N	p.D50N	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	255	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	50					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.148G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710279	0.48517	.	.	ENSG00000167468	ENST00000354171	T	0.03860	3.78	3.79	3.79	0.43588	Thioredoxin-like fold (2);	.	.	.	.	T	0.06462	0.0166	L	0.49256	1.55	0.42091	D	0.991295	B;B;B	0.28378	0.048;0.209;0.209	B;B;B	0.27500	0.014;0.08;0.08	T	0.26087	-1.0113	9	0.44086	T	0.13	.	12.4993	0.55946	0.0:0.0:1.0:0.0	.	23;50;50	P36969-2;Q6PI42;P36969	.;.;GPX4_HUMAN	N	50	ENSP00000346103:D50N	ENSP00000346103:D50N	D	+	1	0	GPX4	1056248	1.000000	0.71417	0.998000	0.56505	0.106000	0.19336	4.237000	0.58681	1.947000	0.56498	0.561000	0.74099	GAC		0.682	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		14	83	0	0	0	1	0	14	83					A	1105248	G	A	1105248	1	1	163	0	1	0	0	0	0	0	0	0	6742	1058	37	2		2	GPX4	19	1105248	IGR	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		1105248	58023735	19	2892										
CYP4F2	8529	broad.mit.edu	37	chr19	16000403	16000403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	gaaacgctgcccatcaggggTgagataatacaggaagtcaa	12	8	2	1			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr19:16000403T>C	ENST00000221700.6	-	7	843	c.748A>G	c.(748-750)Acc>Gcc	p.T250A	CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCAGGGGTGAGATAATAC	0.557																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(748-750)Acc>Gcc		cytochrome P450, family 4, subfamily F, polypeptide 2							117	114	115					19																	16000403		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16000403T>C	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.748A>G	19.37:g.16000403T>C	ENSP00000221700:p.Thr250Ala					CYP4F2_ENST00000592328.1_Missense_Mutation_p.T250A|CYP4F2_ENST00000011989.7_Missense_Mutation_p.T101A	p.T250A	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			7	843	-			250						Missense_Mutation	SNP	ENST00000221700.6	37	c.748A>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	t	14.96	2.690354	0.48097	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69926	-0.44;1.56	2.72	2.72	0.32119	.	0.184388	0.34110	U	0.004252	T	0.79137	0.4395	M	0.92738	3.34	0.20489	N	0.999895	P;P	0.47545	0.854;0.897	P;P	0.56648	0.803;0.734	T	0.70443	-0.4870	10	0.87932	D	0	.	5.1112	0.14809	0.2632:0.0:0.0:0.7368	.	101;250	B4DV75;P78329	.;CP4F2_HUMAN	A	250;101;101	ENSP00000221700:T250A;ENSP00000011989:T101A	ENSP00000011989:T101A	T	-	1	0	CYP4F2	15861403	0.984000	0.35163	0.100000	0.21137	0.039000	0.13416	1.034000	0.30204	1.226000	0.43582	0.254000	0.18369	ACC		0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		33	82	0	0	0	1	0	33	82					C	16000403	T	C	16000403	3	2	163	1	0	0	0	0	1	0	0	0	4188	1696	59	4	842	4	CYP4F2	19	16000403	Missense_Mutation	SNP	T	TCGA-WB-A81H-01A-11D-A35I-08	14895155	16000403	43128580	20	2893										
ZNF512B	57473	broad.mit.edu	37	chr20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	2	1	1.50740740740741	NA	1.50740740740741	0.333333333333333	1	0	aggtacgggtttggtgaccgGcacagacttggtgactgtga	16	7	0	4			TCGA-WB-A81H-01A-11D-A35I-08	TCGA-WB-A81H-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2759a8f9-f3d1-4883-9ce4-ba235595c426	705edc68-43ca-465d-894e-1d6d39ab9d9f	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(793-795)Ccg>Tcg		zinc finger protein 512B							380	396	391					20																	62597735		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597735G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.793C>T	20.37:g.62597735G>A	ENSP00000393795:p.Pro265Ser					ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S	p.P265S			Q96KM6	Z512B_HUMAN			5	853	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		265					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.793C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123279	0.06795	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.55	0.0704	0.14378	.	0.871399	0.09535	N	0.788968	T	0.14056	0.0340	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31475	-0.9942	10	0.62326	D	0.03	-4.9126	1.5918	0.02656	0.1931:0.1639:0.4745:0.1684	.	265	Q96KM6	Z512B_HUMAN	S	265	ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S	ENSP00000217130:P265S	P	-	1	0	ZNF512B	62068179	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.302000	0.19192	0.133000	0.18654	0.650000	0.86243	CCG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	438	0	0	0	1	0	6	438					A	62597735	G	A	62597735	3	1	163	1	0	0	0	0	1	0	0	0	17954	1203	42	3	1937	3	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-WB-A81H-01A-11D-A35I-08		62597735	427785	21	2894										
SLFNL1	200172	broad.mit.edu	37	chr1	41483806	41483808	+	In_Frame_Del	DEL	TCC	TCC	-													0	0	1	0	0	0	1	1	0	ggccagggctcaggccactgTcctcctcctcctcctccttc							TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr1:41483806_41483808delTCC	ENST00000359345.1	-	2	3032_3034	c.456_458delGGA	c.(454-459)gaggac>gac	p.E152del	SLFNL1_ENST00000439569.2_In_Frame_Del_p.E152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000397197.2_In_Frame_Del_p.E152del|SLFNL1_ENST00000302946.8_In_Frame_Del_p.E152del|SLFNL1_ENST00000372613.2_In_Frame_Del_p.E152del	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	152							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGGCCACTGtcctcctcctcct	0.626																																						ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(454-459)gac>ga		schlafen-like 1			,	18,3544		1,16,1764					,	2	0.1			5	72,7008		4,64,3472	no	coding,coding	SLFNL1	NM_144990.3,NM_001168247.1	,	5,80,5236	A1A1,A1R,RR		1.0169,0.5053,0.8457	,	,		90,10552				SO:0001651	inframe_deletion	200172						ATP binding	g.chr1:41483806_41483808delTCC	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.456_458delGGA	1.37:g.41483815_41483817delTCC	ENSP00000352299:p.Glu152del					SLFNL1_ENST00000302946.8_In_Frame_Del_p.ED152del|SLFNL1_ENST00000439569.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000397197.2_In_Frame_Del_p.ED152del|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000372613.2_In_Frame_Del_p.ED152del	p.ED152del	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			2	3032_3034	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	152					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	In_Frame_Del	DEL	ENST00000359345.1	37	c.456_458delGGA	CCDS460.1																																																																																				0.626	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		2	4						2	4	---	---	---	---	-	41483808	TCC	-	41483806	7	5	164	1	0	1	0	1	0	0	0	0	14738	1667	58	0	777	0	SLFNL1	1	41483806	In_Frame_Del	DEL	TCC	TCGA-WB-A81I-01A-11D-A35I-08		41483806	207766815	1	2895										
AAK1	22848	broad.mit.edu	37	chr2	69741805	69741807	+	In_Frame_Del	DEL	TGT	TGT	-													0	0	1	0	0	0	1	1	0	agaaattctgcattagctgcTgttgagagcctccttgggac							TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr2:69741805_69741807delTGT	ENST00000409085.4	-	13	1948_1950	c.1572_1574delACA	c.(1570-1575)caacag>cag	p.524_525QQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.524_525QQ>Q|RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000406297.3_In_Frame_Del_p.524_525QQ>Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	524	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CATTAGCTGCTGTTGAGAGCCTC	0.502																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1570-1575)cag>ca		AP2 associated kinase 1																																				SO:0001651	inframe_deletion	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69741805_69741807delTGT	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1572_1574delACA	2.37:g.69741805_69741807delTGT	ENSP00000386456:p.Gln526del					AAK1_ENST00000409068.1_In_Frame_Del_p.QQ524del|AAK1_ENST00000406297.3_In_Frame_Del_p.QQ524del	p.QQ524del	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			13	1948_1950	-			524			Gln-rich.		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	ENST00000409085.4	37	c.1572_1574delACA	CCDS1893.2																																																																																				0.502	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		12	8						12	8	---	---	---	---	-	69741807	TGT	-	69741805	7	5	164	1	0	1	0	1	0	0	0	0	16	1580	55	0	1351	0	AAK1	2	69741805	In_Frame_Del	DEL	TGT	TCGA-WB-A81I-01A-11D-A35I-08		69741805	173457568	2	2896										
CRIPAK	285464	broad.mit.edu	37	chr4	1389240	1389240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagtgcccgcctgctcacGtgcccatatggagtgcccgc	13	15	1	0			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr4:1389240G>A	ENST00000324803.4	+	1	3901	c.941G>A	c.(940-942)cGt>cAt	p.R314H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	314					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCTCACGTGCCCATATG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(940-942)cGt>cAt		cysteine-rich PAK1 inhibitor							169	171	170					4																	1389240		2202	4299	6501	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389240G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.941G>A	4.37:g.1389240G>A	ENSP00000323978:p.Arg314His						p.R314H	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3901	+			314					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.941G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	A	9.936	1.216238	0.22373	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.20332	2.08	0.815	-1.63	0.08345	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	9	0.49607	T	0.09	.	6.5735	0.22551	0.5269:0.0:0.4731:0.0	.	314	Q8N1N5	CRPAK_HUMAN	H	314;256	ENSP00000323978:R314H	ENSP00000323978:R314H	R	+	2	0	CRIPAK	1379240	0.086000	0.21541	0.000000	0.03702	0.002000	0.02628	0.025000	0.13577	-1.906000	0.01089	-2.143000	0.00337	CGT		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		12	182	0	0	0	1	0	12	182					A	1389240	G	A	1389240	3	1	164	1	0	0	0	0	1	0	0	0	3877	1145	40	1	943	1	CRIPAK	4	1389240	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		1389240	189765036	3	2897										
ZNF608	57507	broad.mit.edu	37	chr5	123982608	123982608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	gttaggctccggagtagaggGagcttttgagattgtggccg	17	6	0	2			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr5:123982608G>A	ENST00000306315.5	-	4	3904	c.3469C>T	c.(3469-3471)Ccc>Tcc	p.P1157S	ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1157							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGAGTAGAGGGAGCTTTTGAG	0.463																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3469-3471)Ccc>Tcc		zinc finger protein 608							122	119	120					5																	123982608		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982608G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3469C>T	5.37:g.123982608G>A	ENSP00000307746:p.Pro1157Ser					ZNF608_ENST00000504926.1_Missense_Mutation_p.P730S	p.P1157S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3904	-		all_cancers(142;0.186)|Prostate(80;0.081)	1157					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3469C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318628	0.60524	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.60299	0.2;0.37	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.73217	2.22	0.47584	D	0.999469	P	0.42518	0.782	B	0.38712	0.28	T	0.66716	-0.5853	10	0.62326	D	0.03	-19.0094	20.2015	0.98260	0.0:0.0:1.0:0.0	.	1157	Q9ULD9	ZN608_HUMAN	S	730;1157	ENSP00000427657:P730S;ENSP00000307746:P1157S	ENSP00000307746:P1157S	P	-	1	0	ZNF608	124010507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.345000	0.79337	2.773000	0.95371	0.643000	0.83706	CCC		0.463	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		22	69	0	0	0	1	0	22	69					A	123982608	G	A	123982608	3	1	164	1	0	0	0	0	1	0	0	0	18031	1174	41	3	1093	3	ZNF608	5	123982608	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		123982608	56932652	4	2898										
KIF13B	23303	broad.mit.edu	37	chr8	28928038	28928038	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctcagctggcccaggattTccggttctcagggttcttgt	13	11	3	0			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr8:28928038T>G	ENST00000524189.1	-	40	5502	c.5464A>C	c.(5464-5466)Aaa>Caa	p.K1822Q	CTD-2647L4.5_ENST00000560714.1_RNA|KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1822					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCCCAGGATTTCCGGTTCTCA	0.682																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(5464-5466)Aaa>Caa		kinesin family member 13B							16	20	19					8																	28928038		1972	4145	6117	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28928038T>G	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5464A>C	8.37:g.28928038T>G	ENSP00000427900:p.Lys1822Gln					KIF13B_ENST00000404075.3_Missense_Mutation_p.K341Q	p.K1822Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	40	5502	-		Ovarian(32;0.000536)	1822					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.5464A>C	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.805009	0.90623	.	.	ENSG00000197892	ENST00000524189;ENST00000523130;ENST00000404075	D;D;D	0.87029	-1.56;-2.2;-2.12	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90449	0.4437	10	0.66056	D	0.02	.	14.2199	0.65820	0.0:0.0:0.0:1.0	.	341;1822	B4DGY5;F8VPJ2	.;.	Q	1822;414;341	ENSP00000427900:K1822Q;ENSP00000429106:K414Q;ENSP00000384054:K341Q	ENSP00000384054:K341Q	K	-	1	0	KIF13B	28983957	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.205000	0.77881	1.960000	0.56953	0.459000	0.35465	AAA		0.682	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			3	14	0	0	0	1	0	3	14					G	28928038	T	G	28928038	3	3	164	1	0	0	0	0	1	0	0	0	8275	1792	62	5	20	5	KIF13B	8	28928038	Missense_Mutation	SNP	T	TCGA-WB-A81I-01A-11D-A35I-08		28928038	117435984	5	2899										
PKHD1L1	93035	broad.mit.edu	37	chr8	110457177	110457177	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tcttctgcaggtgtaaaagtCcttatgggtcatttcccatg	9	9	3	0			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr8:110457177C>T	ENST00000378402.5	+	38	5183	c.5079C>T	c.(5077-5079)gtC>gtT	p.V1693V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1693	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTAAAAGTCCTTATGGGTC	0.443										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5077-5079)gtC>gtT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							149	144	145					8																	110457177		1873	4109	5982	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457177C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5079C>T	8.37:g.110457177C>T		HNSCC(38;0.096)					p.V1693V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5183	+			1693			IPT/TIG 9.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.5079C>T	CCDS47911.1																																																																																				0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		47	60	0	0	0	1	0	47	60					T	110457177	C	T	110457177	2	4	164	1	0	0	0	0	0	0	0	1	11972	842	30	3		3	PKHD1L1	8	110457177	Silent	SNP	C	TCGA-WB-A81I-01A-11D-A35I-08	81529139	110457177	35906845	6	2900										
FAM111B	374393	broad.mit.edu	37	chr11	58877137	58877137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaagaaaacaagtcatttagCgctatggaagatgaccagag	11	6	1	4	rs138558402		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:58877137C>T	ENST00000343597.3	+	3	230	c.39C>T	c.(37-39)agC>agT	p.S13S	FAM111B_ENST00000529618.1_Intron|FAM111B_ENST00000411426.1_Intron	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	13							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGTCATTTAGCGCTATGGAAG	0.368													C|||	1	0.000199681	0	0.0014	5008	,	,		20931	0		0	False		,,,				2504	0					ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(37-39)agC>agT		family with sequence similarity 111, member B		C	,,	0,4402		0,0,2201	110	98	102		,,39	-1.1	0	11	dbSNP_134	102	1,8589	1.2+/-3.3	0,1,4294	no	intron,intron,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	,,13/735	58877137	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58877137C>T	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.39C>T	11.37:g.58877137C>T						FAM111B_ENST00000411426.1_Intron|FAM111B_ENST00000529618.1_Intron	p.S13S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			3	230	+			13					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.39C>T	CCDS7972.1																																																																																				0.368	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		3	27	0	0	0	1	0	3	27					T	58877137	C	T	58877137	2	4	164	1	0	0	0	0	0	0	0	1	5400	767	27	1		1	FAM111B	11	58877137	Silent	SNP	C	TCGA-WB-A81I-01A-11D-A35I-08		58877137	76129379	7	2901										
DYNC2H1	79659	broad.mit.edu	37	chr11	103027115	103027115	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atggatattttgtgttaaatAggatttaaatagtcgggcac	10	3	0	0			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr11:103027115A>G	ENST00000375735.2	+	26	3888		c.e26-1		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTGTTAAATAGGATTTAAAT	0.279																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e26-1		dynein, cytoplasmic 2, heavy chain 1							28	28	28					11																	103027115		1812	4062	5874	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027115A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3745-1A>G	11.37:g.103027115A>G						DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron		NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	3888	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)						O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37		CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093054	0.76756	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1907	0.73041	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC2H1	102532325	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.690000	0.91272	2.001000	0.58596	0.460000	0.39030	.		0.279	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Intron	6	10	0	0	0	1	0	6	10					G	103027115	A	G	103027115	5	3	164	1	0	0	0	0	0	0	1	0	4846	434	15	4	3845	4	DYNC2H1	11	103027115	Splice_Site	SNP	A	TCGA-WB-A81I-01A-11D-A35I-08	44149978	103027115	31979401	8	2902										
FAM123A	219287	broad.mit.edu	37	chr13	25744194	25744194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ggtggagtcccagtagccctCgtcgctgttggggacgcctt	15	12	0	0			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr13:25744194C>T	ENST00000515384.1	-	1	2231	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.E403K|AMER2_ENST00000357816.2_Missense_Mutation_p.E403K			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	522					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E522*(1)|p.E403*(1)									CAGTAGCCCTCGTCGCTGTTG	0.662																																						ENST00000357816.2																			2	Substitution - Nonsense(2)	p.E522*(1)|p.E403*(1)	lung(2)								c.(1207-1209)Gag>Aag		APC membrane recruitment protein 2							68	64	65					13																	25744194		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744194C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1564G>A	13.37:g.25744194C>T	ENSP00000426528:p.Glu522Lys					AMER2_ENST00000515384.1_Missense_Mutation_p.E522K|AMER2_ENST00000381853.3_Missense_Mutation_p.E403K	p.E403K							3	1682	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1207G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107481	0.77096	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.47528	0.84;0.84;0.84	4.98	1.14	0.20703	.	0.173505	0.49916	N	0.000131	T	0.38295	0.1035	L	0.55743	1.74	0.49582	D	0.999803	P;P	0.47841	0.901;0.719	B;B	0.38755	0.281;0.109	T	0.23119	-1.0197	10	0.59425	D	0.04	-6.7672	10.0393	0.42148	0.0:0.5344:0.3925:0.073	.	522;403	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	403;403;522	ENSP00000350469:E403K;ENSP00000371277:E403K;ENSP00000426528:E522K	ENSP00000350469:E403K	E	-	1	0	FAM123A	24642194	0.980000	0.34600	0.938000	0.37757	0.991000	0.79684	2.482000	0.45224	-0.001000	0.14495	0.561000	0.74099	GAG		0.662	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		7	59	0	0	0	1	0	7	59					T	25744194	C	T	25744194	3	4	164	1	0	0	0	0	1	0	0	0	5422	893	31	2	455	2	FAM123A	13	25744194	Missense_Mutation	SNP	C	TCGA-WB-A81I-01A-11D-A35I-08		25744194	89425684	9	2903										
C13orf39	196541	broad.mit.edu	37	chr13	103343216	103343216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	ggattcctggatgacaatctCctttcctgcaaaccgataat	7	11	1	1			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr13:103343216C>T	ENST00000267273.6	-	2	234	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	77					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGACAATCTCCTTTCCTGCA	0.453																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(229-231)Gag>Aag		methyltransferase like 21C							177	150	159					13																	103343216		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343216C>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"chromosome 13 open reading frame 39"	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.229G>A	13.37:g.103343216C>T	ENSP00000267273:p.Glu77Lys						p.E77K	NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN			2	234	-			77						Missense_Mutation	SNP	ENST00000267273.6	37	c.229G>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086576	0.20390	.	.	ENSG00000139780	ENST00000267273	T	0.14516	2.5	6.16	3.76	0.43208	.	0.629443	0.18377	N	0.143063	T	0.05502	0.0145	N	0.04805	-0.155	0.25965	N	0.982573	B	0.02656	0.0	B	0.04013	0.001	T	0.41052	-0.9530	10	0.17369	T	0.5	-0.0346	5.3709	0.16138	0.0:0.1693:0.2475:0.5831	.	77	Q5VZV1	MT21C_HUMAN	K	77	ENSP00000267273:E77K	ENSP00000267273:E77K	E	-	1	0	METTL21C	102141217	0.850000	0.29656	0.954000	0.39281	0.863000	0.49368	1.201000	0.32259	0.553000	0.29044	-0.312000	0.09012	GAG		0.453	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		7	41	0	0	0	1	0	7	41					T	103343216	C	T	103343216	3	4	164	1	0	0	0	0	1	0	0	0	1732	864	30	3	577	3	C13orf39	13	103343216	Missense_Mutation	SNP	C	TCGA-WB-A81I-01A-11D-A35I-08	77599022	103343216	11826662	10	2904										
CNOT1	23019	broad.mit.edu	37	chr16	58589235	58589236	+	Frame_Shift_Del	DEL	AT	AT	-													0	0	1	0	0	0	1	1	0	ttgcgtaaggcttcaagaacAtatcgtagagccagacctag					rs145768046		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr16:58589235_58589236delAT	ENST00000317147.5	-	21	3142_3143	c.2810_2811delAT	c.(2809-2811)tatfs	p.Y937fs	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	937	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTCAAGAACATATCGTAGAGC	0.401																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(2809-2811)tfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58589235_58589236delAT	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2810_2811delAT	16.37:g.58589237_58589238delAT	ENSP00000320949:p.Tyr937fs					CNOT1_ENST00000569240.1_Frame_Shift_Del_p.Y932fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.Y937fs|CNOT1_ENST00000569732.1_5'UTR	p.Y937fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	21	3142_3143	-			937					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.2810_2811delAT	CCDS10799.1																																																																																				0.401	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		56	79						56	79	---	---	---	---	-	58589236	AT	-	58589235	7	5	164	1	0	1	0	1	0	0	0	0	3617	224	8	0	4657	0	CNOT1	16	58589235	Frame_Shift_Del	DEL	AT	TCGA-WB-A81I-01A-11D-A35I-08		58589235	31765518	11	2905										
MYH3	4621	broad.mit.edu	37	chr17	10537355	10537355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctctaagttcttattttcccGtttcacagtttcaagttgat	5	9	4	1	rs551438676		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr17:10537355G>C	ENST00000583535.1	-	32	4588	c.4501C>G	c.(4501-4503)Cgg>Ggg	p.R1501G	MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1501					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTATTTTCCCGTTTCACAGTT	0.493																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4501-4503)Cgg>Ggg		myosin, heavy chain 3, skeletal muscle, embryonic							181	155	164					17																	10537355		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537355G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4501C>G	17.37:g.10537355G>C	ENSP00000464317:p.Arg1501Gly					MYH3_ENST00000226209.7_Missense_Mutation_p.R1501G	p.R1501G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			32	4588	-			1501					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4501C>G	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896772	0.72639	.	.	ENSG00000109063	ENST00000226209	D	0.83914	-1.78	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.94588	0.8256	H	0.96943	3.91	0.41066	D	0.985411	D	0.89917	1.0	D	0.97110	1.0	D	0.96268	0.9196	9	0.87932	D	0	.	19.3282	0.94273	0.0:0.0:1.0:0.0	.	1501	P11055	MYH3_HUMAN	G	1501	ENSP00000226209:R1501G	ENSP00000226209:R1501G	R	-	1	2	MYH3	10478080	0.925000	0.31364	1.000000	0.80357	0.998000	0.95712	1.395000	0.34520	2.623000	0.88846	0.655000	0.94253	CGG		0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		10	89	0	0	0	1	0	10	89					C	10537355	G	C	10537355	3	2	164	1	0	0	0	0	1	0	0	0	10036	1144	40	5	1361	5	MYH3	17	10537355	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		10537355	70657855	12	2906										
PLIN5	440503	broad.mit.edu	37	chr19	4525016	4525016	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	cggagggcgctggccccattCcccccacagctcgtgcacct							TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr19:4525016delC	ENST00000381848.3	-	7	873	c.793delG	c.(793-795)gaafs	p.E265fs		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	265	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TGGCCCCATTCCCCCCACAGC	0.682																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(793-795)aafs		perilipin 5							4	6	5					19																	4525016		1912	3951	5863	SO:0001589	frameshift_variant	440503					lipid particle		g.chr19:4525016delC	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.793delG	19.37:g.4525016delC	ENSP00000371272:p.Glu265fs						p.E265fs	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			7	873	-			265					A2RRC1|Q6ZS68	Frame_Shift_Del	DEL	ENST00000381848.3	37	c.793delG	CCDS42473.1																																																																																				0.682	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		2	4						2	4	---	---	---	---	-	4525016	C	-	4525016	7	5	164	1	0	1	0	1	0	0	0	0	12093	864	30	0	606	0	PLIN5	19	4525016	Frame_Shift_Del	DEL	C	TCGA-WB-A81I-01A-11D-A35I-08		4525016	54603967	13	2907										
ZNF471	57573	broad.mit.edu	37	chr19	57037154	57037154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tggagagaaaccctataaatGtactgaatgtggaaaggctt	11	5	0	2			TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr19:57037154G>A	ENST00000308031.5	+	5	1851	c.1718G>A	c.(1717-1719)tGt>tAt	p.C573Y	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CCCTATAAATGTACTGAATGT	0.423																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1717-1719)tGt>tAt		zinc finger protein 471							72	71	71					19																	57037154		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037154G>A	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1718G>A	19.37:g.57037154G>A	ENSP00000309161:p.Cys573Tyr					ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	p.C573Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1851	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	573					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1718G>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984739	0.53934	.	.	ENSG00000196263	ENST00000308031	D	0.85088	-1.94	3.9	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93635	0.7967	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93514	0.6855	9	0.72032	D	0.01	.	10.2035	0.43099	0.1013:0.0:0.8987:0.0	.	573	Q9BX82	ZN471_HUMAN	Y	573	ENSP00000309161:C573Y	ENSP00000309161:C573Y	C	+	2	0	ZNF471	61728966	1.000000	0.71417	0.493000	0.27502	0.927000	0.56198	3.665000	0.54532	0.846000	0.35142	0.462000	0.41574	TGT		0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		8	39	0	0	0	1	0	8	39					A	57037154	G	A	57037154	3	1	164	1	0	0	0	0	1	0	0	0	17927	1377	48	3	1732	3	ZNF471	19	57037154	Missense_Mutation	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08	52512138	57037154	2091829	14	2908										
SREBF2	6721	broad.mit.edu	37	chr22	42273265	42273265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccagactctcctcctgtggcGctgggcatggtagaccgctc	12	15	1	2	rs143287516		TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chr22:42273265G>A	ENST00000361204.4	+	8	1585	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	473	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCCTGTGGCGCTGGGCATGG	0.512																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1417-1419)gcG>gcA		sterol regulatory element binding transcription factor 2		G		1,4405	2.1+/-5.4	0,1,2202	121	117	118		1419	-12.1	0.3	22	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	SREBF2	NM_004599.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		473/1142	42273265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42273265G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1419G>A	22.37:g.42273265G>A							p.A473A	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			8	1585	+			473			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.1419G>A	CCDS14023.1																																																																																				0.512	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		6	67	0	0	0	1	0	6	67					A	42273265	G	A	42273265	2	1	164	1	0	0	0	0	0	0	0	1	15141	1074	38	1		1	SREBF2	22	42273265	Silent	SNP	G	TCGA-WB-A81I-01A-11D-A35I-08		42273265	9031301	15	2909										
BCOR	54880	broad.mit.edu	37	chrX	39933743	39933743	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	gcccatcttccacgggaggcTtttgtctgcgcaatggacga							TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chrX:39933743delT	ENST00000378444.4	-	4	1084	c.856delA	c.(856-858)agcfs	p.S286fs	BCOR_ENST00000342274.4_Frame_Shift_Del_p.S286fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S286fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	286					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACGGGAGGCTTTTGTCTGCG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(856-858)gcfs		BCL6 corepressor							27	22	23					X																	39933743		2202	4299	6501	SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933743delT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.856delA	X.37:g.39933743delT	ENSP00000367705:p.Ser286fs					BCOR_ENST00000378444.4_Frame_Shift_Del_p.S286fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.S286fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.S286fs	p.S286fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1218	-			286					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.856delA	CCDS48093.1																																																																																				0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		2	4						2	4	---	---	---	---	-	39933743	T	-	39933743	7	5	164	1	0	1	0	1	0	0	0	0	1386	1609	56	0	4459	0	BCOR	23	39933743	Frame_Shift_Del	DEL	T	TCGA-WB-A81I-01A-11D-A35I-08		39933743	115336817	16	2910										
UBL4A	8266	broad.mit.edu	37	chrX	153714628	153714628	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	actgggacgttcagcttctcGgagaccagctgcttcagcgt							TCGA-WB-A81I-01A-11D-A35I-08	TCGA-WB-A81I-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25e4ee2-290d-4b48-85da-bd902fefb6fd	d97d6679-1c0d-4124-841a-627d4cc62281	g.chrX:153714628delG	ENST00000369660.4	-	2	178	c.93delC	c.(91-93)tccfs	p.S31fs	UBL4A_ENST00000369653.4_Frame_Shift_Del_p.S31fs|UBL4A_ENST00000477777.1_5'Flank	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	31	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCTTCTCGGAGACCAGCT	0.701																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			0				endometrium(5)|lung(1)|urinary_tract(1)	7						c.(91-93)tcfs		ubiquitin-like 4A							13	9	11					X																	153714628		2149	4203	6352	SO:0001589	frameshift_variant	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153714628delG	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"ubiquitin-like 4"	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.93delC	X.37:g.153714628delG	ENSP00000358674:p.Ser31fs					UBL4A_ENST00000369653.4_Frame_Shift_Del_p.S31fs	p.S31fs	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN			2	178	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		31			Ubiquitin-like.		Q5HY80	Frame_Shift_Del	DEL	ENST00000369660.4	37	c.93delC	CCDS14754.1																																																																																				0.701	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		2	4						2	4	---	---	---	---	-	153714628	G	-	153714628	7	5	164	1	0	1	0	1	0	0	0	0	16884	1103	39	0	392	0	UBL4A	23	153714628	Frame_Shift_Del	DEL	G	TCGA-WB-A81I-01A-11D-A35I-08	113780885	153714628	1555932	17	2911										
COPA	1314	broad.mit.edu	37	chr1	160276973	160276973	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	cgaatgcatccgatctaggaCagcaaaccgatttcgagcga	10	11	1	0			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr1:160276973C>A	ENST00000241704.7	-	14	1511	c.1282G>T	c.(1282-1284)Gtc>Ttc	p.V428F	COPA_ENST00000368069.3_Missense_Mutation_p.V428F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	428					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGATCTAGGACAGCAAACCGA	0.493																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1282-1284)Gtc>Ttc		coatomer protein complex, subunit alpha							175	169	171					1																	160276973		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276973C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1282G>T	1.37:g.160276973C>A	ENSP00000241704:p.Val428Phe					COPA_ENST00000368069.3_Missense_Mutation_p.V428F	p.V428F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1511	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		428					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1282G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562411	0.86335	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.69040	-0.28;-0.37	5.55	5.55	0.83447	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.85130	0.92;0.997	D	0.83586	0.0120	10	0.59425	D	0.04	-20.7324	18.2485	0.89995	0.0:1.0:0.0:0.0	.	428;428	P53621;P53621-2	COPA_HUMAN;.	F	428	ENSP00000357048:V428F;ENSP00000241704:V428F	ENSP00000241704:V428F	V	-	1	0	COPA	158543597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.894000	0.99253	0.591000	0.81541	GTC		0.493	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		4	128	1	0	1	1	1	4	128					A	160276973	C	A	160276973	3	1	165	1	0	0	0	0	1	0	0	0	3727	478	17	5	2499	5	COPA	1	160276973	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		160276973	88973648	1	2912										
VWA3B	200403	broad.mit.edu	37	chr2	98928440	98928440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	gccctcggactcggacggctCctcccacggcatcagctccc	10	20	1	0			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr2:98928440C>T	ENST00000477737.1	+	27	3884	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1227										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGGACGGCTCCTCCCACGGC	0.642																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3679-3681)tCc>tTc		von Willebrand factor A domain containing 3B							11	15	14					2																	98928440		1891	4086	5977	SO:0001583	missense	200403							g.chr2:98928440C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3680C>T	2.37:g.98928440C>T	ENSP00000417955:p.Ser1227Phe					VWA3B_ENST00000490947.2_3'UTR	p.S1227F	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			27	3884	+			1227					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3680C>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	c	10.62	1.400723	0.25291	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.07908	3.15	4.1	2.24	0.28232	.	.	.	.	.	T	0.11665	0.0284	L	0.36672	1.1	0.09310	N	0.999999	P;P	0.47677	0.899;0.838	P;P	0.53809	0.735;0.466	T	0.16988	-1.0384	9	0.54805	T	0.06	.	5.0678	0.14591	0.2044:0.6887:0.0:0.107	.	619;1227	Q502W6-5;Q502W6	.;VWA3B_HUMAN	F	1227;349	ENSP00000417955:S1227F	ENSP00000351009:S349F	S	+	2	0	VWA3B	98294872	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.009000	0.12765	0.659000	0.30945	-0.320000	0.08662	TCC		0.642	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	5	0	0	0	1	0	5	5					T	98928440	C	T	98928440	3	4	165	1	0	0	0	0	1	0	0	0	17238	855	30	3	3782	3	VWA3B	2	98928440	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		98928440	144270933	2	2913										
XRN1	54464	broad.mit.edu	37	chr3	142054337	142054337	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	acactcagctttaggactctTacactcttctttaactagag	5	11	4	1			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr3:142054337T>C	ENST00000264951.4	-	34	4009	c.3892A>G	c.(3892-3894)Aag>Gag	p.K1298E	XRN1_ENST00000392981.2_Missense_Mutation_p.K1298E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1298					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TTAGGACTCTTACACTCTTCT	0.313																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(3892-3894)Aag>Gag		5'-3' exoribonuclease 1							98	102	101					3																	142054337		2202	4300	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142054337T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3892A>G	3.37:g.142054337T>C	ENSP00000264951:p.Lys1298Glu					XRN1_ENST00000392981.2_Missense_Mutation_p.K1298E	p.K1298E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			34	4009	-			1298					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.3892A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802959	0.31869	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.30981	1.51;1.51	5.07	3.86	0.44501	.	0.763514	0.12718	N	0.444951	T	0.20047	0.0482	N	0.19112	0.55	0.80722	D	1	B;B	0.20261	0.043;0.025	B;B	0.23852	0.049;0.013	T	0.03673	-1.1014	10	0.16896	T	0.51	-1.7113	10.4944	0.44768	0.0:0.0:0.163:0.837	.	1298;1298	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1298	ENSP00000264951:K1298E;ENSP00000376707:K1298E	ENSP00000264951:K1298E	K	-	1	0	XRN1	143537027	1.000000	0.71417	0.974000	0.42286	0.646000	0.38490	2.835000	0.48175	0.830000	0.34757	0.455000	0.32223	AAG		0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		37	31	0	0	0	1	0	37	31					C	142054337	T	C	142054337	3	2	165	1	0	0	0	0	1	0	0	0	17456	1763	61	4	1264	4	XRN1	3	142054337	Missense_Mutation	SNP	T	TCGA-WB-A81J-01A-11D-A35I-08		142054337	55968093	3	2914										
ATP10D	57205	broad.mit.edu	37	chr4	47570852	47570852	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	cacctttgcctcttgtttcaAggatgcctgtgggatgctga	11	10	2	1			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr4:47570852A>G	ENST00000273859.3	+	16	3122		c.e16-1			NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D						cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCTTGTTTCAAGGATGCCTGT	0.413																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.e16-1		ATPase, class V, type 10D							58	60	60					4																	47570852		2203	4300	6503	SO:0001630	splice_region_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47570852A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2854-1A>G	4.37:g.47570852A>G								NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			16	3122	+								A2RRC8|D6REN2|Q8NC70|Q96SR3	Splice_Site	SNP	ENST00000273859.3	37		CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385331	0.82792	.	.	ENSG00000145246	ENST00000273859	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.81	0.78552	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP10D	47265609	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	7.794000	0.85869	2.326000	0.78906	0.533000	0.62120	.		0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	Intron	23	3	0	0	0	1	0	23	3					G	47570852	A	G	47570852	5	3	165	1	0	0	0	0	0	0	1	0	1118	86	3	4	2910	4	ATP10D	4	47570852	Splice_Site	SNP	A	TCGA-WB-A81J-01A-11D-A35I-08		47570852	143583424	4	2915										
ABCA13	154664	broad.mit.edu	37	chr7	48431693	48431693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	tgctctttgcttccataaagGcgcctcagtggaccaagaag	10	11	2	1			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr7:48431693G>A	ENST00000435803.1	+	38	11854	c.11830G>A	c.(11830-11832)Gcg>Acg	p.A3944T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3944	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCATAAAGGCGCCTCAGTG	0.527																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11830-11832)Gcg>Acg		ATP-binding cassette, sub-family A (ABC1), member 13							107	109	108					7																	48431693		2007	4174	6181	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431693G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11830G>A	7.37:g.48431693G>A	ENSP00000411096:p.Ala3944Thr						p.A3944T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			38	11854	+			3944			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11830G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961710	0.34659	.	.	ENSG00000179869	ENST00000435803	D	0.86030	-2.06	5.32	3.49	0.39957	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.180079	0.26331	U	0.024983	D	0.85234	0.5650	L	0.42008	1.315	0.80722	D	1	P;P	0.43314	0.713;0.803	P;P	0.49477	0.612;0.529	D	0.83977	0.0330	10	0.72032	D	0.01	.	14.2686	0.66138	0.0:0.0:0.7309:0.2691	.	1646;3944	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	3944	ENSP00000411096:A3944T	ENSP00000411096:A3944T	A	+	1	0	ABCA13	48402239	1.000000	0.71417	0.022000	0.16811	0.019000	0.09904	5.127000	0.64727	0.226000	0.20979	-2.051000	0.00406	GCG		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	35	0	0	0	1	0	5	35					A	48431693	G	A	48431693	3	1	165	1	0	0	0	0	1	0	0	0	31	1203	42	3	11809	3	ABCA13	7	48431693	Missense_Mutation	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		48431693	110706970	5	2916										
C13orf36	400120	broad.mit.edu	37	chr13	37269476	37269476	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	agcgacgctggaagttctttCaccaatttggaagtctgcag	11	9	3	0			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr13:37269476C>G	ENST00000315190.3	+	2	707	c.261C>G	c.(259-261)ttC>ttG	p.F87L		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	87						integral component of membrane (GO:0016021)											GAAGTTCTTTCACCAATTTGG	0.453																																						ENST00000315190.3																			0											c.(259-261)ttC>ttG		serine-rich and transmembrane domain containing 1							95	98	97					13																	37269476		2203	4300	6503	SO:0001583	missense	400120					integral to membrane		g.chr13:37269476C>G		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 36"	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.261C>G	13.37:g.37269476C>G	ENSP00000325776:p.Phe87Leu						p.F87L	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	707	+			87					Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	c.261C>G	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056760	0.76074	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	N	0.14661	0.345	0.54753	D	0.999986	P	0.49696	0.927	D	0.67725	0.953	T	0.69379	-0.5161	9	0.87932	D	0	-43.6337	17.6906	0.88268	0.0:1.0:0.0:0.0	.	87	A2A2V5	SRTM1_HUMAN	L	87	.	ENSP00000325776:F87L	F	+	3	2	SERTM1	36167476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.093000	0.76937	2.398000	0.81561	0.557000	0.71058	TTC		0.453	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		10	50	0	0	0	1	0	10	50					G	37269476	C	G	37269476	3	3	165	1	0	0	0	0	1	0	0	0	1730	825	29	5	263	5	C13orf36	13	37269476	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		37269476	77900402	6	2917										
KIF26A	26153	broad.mit.edu	37	chr14	104645060	104645061	+	Frame_Shift_Del	DEL	CC	CC	-													0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	acgtggagcgccttcagcggCcccgccccaccccgagggag							TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr14:104645060_104645061delCC	ENST00000423312.2	+	13	5284_5285	c.5284_5285delCC	c.(5284-5286)cccfs	p.P1762fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.P1623fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1762					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTTCAGCGGCCCCGCCCCACC	0.703																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(4867-4869)cfs		kinesin family member 26A																																				SO:0001589	frameshift_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104645060_104645061delCC	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.5284_5285delCC	14.37:g.104645062_104645063delCC	ENSP00000388241:p.Pro1762fs					KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P1762fs	p.P1623fs			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	5245_5246	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1762					Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	c.4867_4868delCC	CCDS45171.1																																																																																				0.703	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			2	4						2	4	---	---	---	---	-	104645061	CC	-	104645060	7	5	165	1	0	1	0	1	0	0	0	0	8294	739	26	0	5334	0	KIF26A	14	104645060	Frame_Shift_Del	DEL	CC	TCGA-WB-A81J-01A-11D-A35I-08		104645060	2704480	7	2918										
MYH4	4622	broad.mit.edu	37	chr17	10359164	10359164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	ttcattggggatgatgcaccGcacaaagtgggggtgagtgc	16	7	1	2			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr17:10359164G>A	ENST00000255381.2	-	18	2133	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	675	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATGCACCGCACAAAGTGG	0.433																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2023-2025)Cgg>Tgg		myosin, heavy chain 4, skeletal muscle							140	140	140					17																	10359164		2203	4297	6500	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10359164G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2023C>T	17.37:g.10359164G>A	ENSP00000255381:p.Arg675Trp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R675W	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			18	2133	-			675			Actin-binding (By similarity).|Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2023C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896201	0.72639	.	.	ENSG00000141048	ENST00000255381	D	0.90732	-2.72	4.87	3.88	0.44766	Myosin head, motor domain (2);	0.000000	0.36628	U	0.002491	D	0.97704	0.9247	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	.	14.979	0.71299	0.0:0.0:0.8565:0.1435	.	675	Q9Y623	MYH4_HUMAN	W	675	ENSP00000255381:R675W	ENSP00000255381:R675W	R	-	1	2	MYH4	10299889	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	5.602000	0.67612	1.143000	0.42306	0.455000	0.32223	CGG		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		3	46	0	0	0	1	0	3	46					A	10359164	G	A	10359164	3	1	165	1	0	0	0	0	1	0	0	0	10037	1086	38	1	3888	1	MYH4	17	10359164	Missense_Mutation	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		10359164	70836046	8	2919										
CBLN2	147381	broad.mit.edu	37	chr18	70205425	70205425	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	ctgtgtttatagaggaaacaCcaagaagcccgagaatgtgg	12	7	0	3			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr18:70205425C>A	ENST00000269503.4	-	5	1434	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L	CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L|CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AGAGGAAACACCAAGAAGCCC	0.512																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(661-663)Gtg>Ttg		cerebellin 2 precursor							76	77	77					18																	70205425		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205425C>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.661G>T	18.37:g.70205425C>A	ENSP00000269503:p.Val221Leu					CBLN2_ENST00000581073.1_Missense_Mutation_p.V107L|CBLN2_ENST00000585159.1_Missense_Mutation_p.V221L|CBLN2_ENST00000584764.1_Missense_Mutation_p.V105L|CBLN2_ENST00000583651.1_5'UTR	p.V221L	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			5	1434	-		Esophageal squamous(42;0.131)	221			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.661G>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497852	0.64186	.	.	ENSG00000141668	ENST00000269503	T	0.26660	1.72	5.66	5.66	0.87406	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.065948	0.64402	D	0.000015	T	0.20251	0.0487	N	0.17564	0.495	0.80722	D	1	B	0.27656	0.184	B	0.33799	0.17	T	0.05920	-1.0856	10	0.09590	T	0.72	-15.3682	20.1253	0.97977	0.0:1.0:0.0:0.0	.	221	Q8IUK8	CBLN2_HUMAN	L	221	ENSP00000269503:V221L	ENSP00000269503:V221L	V	-	1	0	CBLN2	68356405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	GTG		0.512	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		6	50	1	0	8.12818e-05	1	9.14421e-05	6	50					A	70205425	C	A	70205425	3	1	165	1	0	0	0	0	1	0	0	0	2705	507	18	5	17	5	CBLN2	18	70205425	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		70205425	7871823	9	2920										
HNRNPM	4670	broad.mit.edu	37	chr19	8551959	8551959	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	aggacaaattcaacgagtgcGgtaagtgttgggaacggctt	14	6	1	0			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr19:8551959G>A	ENST00000325495.4	+	15	2070	c.2029G>A	c.(2029-2031)Ggc>Agc	p.G677S	HNRNPM_ENST00000348943.3_Splice_Site_p.G638S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	677	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CAACGAGTGCGGTAAGTGTTG	0.527																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.e16+1		heterogeneous nuclear ribonucleoprotein M							263	208	227					19																	8551959		2203	4300	6503	SO:0001630	splice_region_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551959G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.2029+1G>A	19.37:g.8551959G>A						HNRNPM_ENST00000325495.4_Splice_Site_p.G677_splice	p.G638_splice	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			16	2144	+			677					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Splice_Site	SNP	ENST00000325495.4	37	c.1912_splice	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836583	0.91117	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.45668	0.89;0.89	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.93375	3.41	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.762	D;D;B	0.97110	0.999;1.0;0.112	T	0.81182	-0.1049	10	0.87932	D	0	.	18.7058	0.91637	0.0:0.0:1.0:0.0	.	677;638;562	P52272;P52272-2;Q59ES8	HNRPM_HUMAN;.;.	S	677;638;562;234	ENSP00000325376:G677S;ENSP00000325732:G638S	ENSP00000325376:G677S	G	+	1	0	HNRNPM	8457959	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	9.423000	0.97461	2.754000	0.94517	0.655000	0.94253	GGC		0.527	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Missense_Mutation	4	94	0	0	0	1	0	4	94					A	8551959	G	A	8551959	5	1	165	1	0	0	0	0	0	0	1	0	7271	1130	39	2	2087	2	HNRNPM	19	8551959	Splice_Site	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		8551959	50577024	10	2921										
DIDO1	11083	broad.mit.edu	37	chr20	61512558	61512558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	cagggcaccctgggcaccacGtgccgagagcctggagagag	16	13	0	2			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr20:61512558G>T	ENST00000266070.4	-	16	5075	c.4750C>A	c.(4750-4752)Cgt>Agt	p.R1584S	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1584					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCACCACGTGCCGAGAGC	0.706																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4750-4752)Cgt>Agt		death inducer-obliterator 1							13	17	15					20																	61512558		2074	4083	6157	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512558G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4750C>A	20.37:g.61512558G>T	ENSP00000266070:p.Arg1584Ser					DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584S	p.R1584S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5075	-	Breast(26;5.68e-08)		1584					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4750C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	0.832	-0.744789	0.03065	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.06933	3.24;3.24	4.5	-0.448	0.12230	.	3.466110	0.02260	N	0.067445	T	0.03053	0.0090	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	10	0.15066	T	0.55	2.2448	1.6537	0.02777	0.2812:0.3972:0.147:0.1747	.	1584	Q9BTC0	DIDO1_HUMAN	S	1584	ENSP00000266070:R1584S;ENSP00000378752:R1584S	ENSP00000266070:R1584S	R	-	1	0	DIDO1	60983003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.368000	0.20399	-0.382000	0.07870	-1.434000	0.01081	CGT		0.706	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		20	18	1	0	0.000175454	1	0.000189491	20	18					T	61512558	G	T	61512558	3	4	165	1	0	0	0	0	1	0	0	0	4522	1145	40	5	1976	5	DIDO1	20	61512558	Missense_Mutation	SNP	G	TCGA-WB-A81J-01A-11D-A35I-08		61512558	1512962	11	2922										
CRYBB1	1414	broad.mit.edu	37	chr22	26997913	26997913	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	ccagagactgggtgcgtcgtCcccctggatctctatggtgt	13	12	1	1			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chr22:26997913C>G	ENST00000215939.2	-	5	635	c.505G>C	c.(505-507)Gac>Cac	p.D169H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	169	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGTGCGTCGTCCCCCTGGATC	0.607																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(505-507)Gac>Cac		crystallin, beta B1							103	76	85					22																	26997913		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26997913C>G		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.505G>C	22.37:g.26997913C>G	ENSP00000215939:p.Asp169His						p.D169H	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			5	635	-			169			Beta/gamma crystallin 'Greek key' 3.			Missense_Mutation	SNP	ENST00000215939.2	37	c.505G>C	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742160	0.49151	.	.	ENSG00000100122	ENST00000215939	T	0.78003	-1.14	4.8	4.8	0.61643	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.049341	0.85682	D	0.000000	D	0.91243	0.7240	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93690	0.7006	10	0.87932	D	0	.	17.0174	0.86423	0.0:1.0:0.0:0.0	.	169	P53674	CRBB1_HUMAN	H	169	ENSP00000215939:D169H	ENSP00000215939:D169H	D	-	1	0	CRYBB1	25327913	1.000000	0.71417	0.990000	0.47175	0.057000	0.15508	7.114000	0.77103	2.468000	0.83385	0.591000	0.81541	GAC		0.607	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		19	20	0	0	0	1	0	19	20					G	26997913	C	G	26997913	3	3	165	1	0	0	0	0	1	0	0	0	3910	855	30	5	261	5	CRYBB1	22	26997913	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		26997913	24306653	12	2923										
ZBED1	9189	broad.mit.edu	37	chrX	2408700	2408700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	cttccacaccttgctcttggCgcgggggtgggccaccagct	13	15	1	0			TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:2408700C>T	ENST00000381223.4	-	2	264	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	21					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGCTCTTGGCGCGGGGGTGG	0.582																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(61-63)Gcc>Acc		zinc finger, BED-type containing 1							138	141	140					X																	2408700		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408700C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.61G>A	X.37:g.2408700C>T	ENSP00000370621:p.Ala21Thr					ZBED1_ENST00000381222.2_Missense_Mutation_p.A21T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.A21T	p.A21T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	264	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	21					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.61G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301424	0.40694	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.46	2.46	0.29980	Zinc finger, BED-type predicted (2);	0.115187	0.31290	U	0.007920	T	0.51041	0.1651	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.45116	-0.9283	8	0.13108	T	0.6	-18.4507	12.7367	0.57228	0.0:1.0:0.0:0.0	.	21	O96006	ZBED1_HUMAN	T	21	.	ENSP00000370616:A21T	A	-	1	0	ZBED1	2418700	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.061000	0.64319	0.995000	0.38917	0.425000	0.28330	GCC		0.582	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		4	172	0	0	0	1	0	4	172					T	2408700	C	T	2408700	3	4	165	1	0	0	0	0	1	0	0	0	17514	768	27	1	2027	1	ZBED1	23	2408700	Missense_Mutation	SNP	C	TCGA-WB-A81J-01A-11D-A35I-08		2408700	152861860	13	2924										
SYN1	6853	broad.mit.edu	37	chrX	47435571	47435571	+	Frame_Shift_Del	DEL	C	C	-													0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	gtccttgccatgtagcgcttCcactgcgcagatgtccagtc							TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:47435571delC	ENST00000295987.7	-	9	1241	c.1117delG	c.(1117-1119)gaafs	p.E373fs	SYN1_ENST00000340666.4_Frame_Shift_Del_p.E373fs	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	373	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TGTAGCGCTTCCACTGCGCAG	0.562																																						ENST00000295987.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						c.(1117-1119)aafs		synapsin I							160	76	104					X																	47435571		2203	4300	6503	SO:0001589	frameshift_variant	6853					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	g.chrX:47435571delC		CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.1117delG	X.37:g.47435571delC	ENSP00000295987:p.Glu373fs					SYN1_ENST00000340666.4_Frame_Shift_Del_p.E373fs	p.E373fs	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN			9	1241	-			373			C; actin-binding and synaptic-vesicle binding.		B1AJQ1|O75825|Q5H9A9	Frame_Shift_Del	DEL	ENST00000295987.7	37	c.1117delG	CCDS14280.1																																																																																				0.562	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950		2	4						2	4	---	---	---	---	-	47435571	C	-	47435571	7	5	165	1	0	1	0	1	0	0	0	0	15437	864	30	0	1020	0	SYN1	23	47435571	Frame_Shift_Del	DEL	C	TCGA-WB-A81J-01A-11D-A35I-08	45026871	47435571	107834989	14	2925										
SUV39H1	6839	broad.mit.edu	37	chrX	48558633	48558633	+	Frame_Shift_Del	DEL	C	C	-													0.0666666666666667	1	1	1.39285714285714	4.875	0	1	1	0	gcggcaccaccggtcaaagaCcccccggcacctggacccaa							TCGA-WB-A81J-01A-11D-A35I-08	TCGA-WB-A81J-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22ed7749-5296-4f46-9157-751a90d444e7	804cb805-7bd2-4cea-b17e-69f3a2dd0709	g.chrX:48558633delC	ENST00000376687.3	+	3	507	c.317delC	c.(316-318)accfs	p.T106fs	SUV39H1_ENST00000453214.2_Frame_Shift_Del_p.D43fs|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Frame_Shift_Del_p.T117fs	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	106					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CGGTCAAAGACCCCCCGGCAC	0.627																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(316-318)acfs		suppressor of variegation 3-9 homolog 1 (Drosophila)							23	19	21					X																	48558633		2197	4293	6490	SO:0001589	frameshift_variant	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558633delC	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.317delC	X.37:g.48558633delC	ENSP00000365877:p.Thr106fs					SUV39H1_ENST00000337852.6_Frame_Shift_Del_p.T117fs|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Frame_Shift_Del_p.D43fs	p.T106fs	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			3	507	+			106					B2R6E8|B4DST0|Q53G60|Q6FHK6	Frame_Shift_Del	DEL	ENST00000376687.3	37	c.317delC	CCDS14304.1																																																																																				0.627	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		2	4						2	4	---	---	---	---	-	48558633	C	-	48558633	7	5	165	1	0	1	0	1	0	0	0	0	15409	507	18	0	327	0	SUV39H1	23	48558633	Frame_Shift_Del	DEL	C	TCGA-WB-A81J-01A-11D-A35I-08	1123062	48558633	106711927	15	2926										
HAO2	51179	broad.mit.edu	37	chr1	119934877	119934877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgggagaccaatcctatggGgccttgcctgcaaggtgaga	14	9	0	2			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr1:119934877G>A	ENST00000325945.3	+	6	989	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	HAO2_ENST00000361035.4_Missense_Mutation_p.G319S	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	306	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AATCCTATGGGGCCTTGCCTG	0.498																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(955-957)Ggc>Agc		hydroxyacid oxidase 2 (long chain)							112	105	107					1																	119934877		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119934877G>A	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.916G>A	1.37:g.119934877G>A	ENSP00000316339:p.Gly306Ser					HAO2_ENST00000325945.3_Missense_Mutation_p.G306S	p.G319S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	7	1238	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	306			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.955G>A	CCDS901.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170008	0.78452	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.42900	0.96;0.96	6.07	6.07	0.98685	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.045710	0.85682	D	0.000000	T	0.63153	0.2487	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59931	-0.7361	9	.	.	.	-21.514	20.6593	0.99626	0.0:0.0:1.0:0.0	.	306	Q9NYQ3	HAOX2_HUMAN	S	319;306	ENSP00000354314:G319S;ENSP00000316339:G306S	.	G	+	1	0	HAO2	119736400	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	9.331000	0.96430	2.885000	0.99019	0.655000	0.94253	GGC		0.498	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		3	25	0	0	0	1	0	3	25					A	119934877	G	A	119934877	3	1	166	1	0	0	0	0	1	0	0	0	6952	1232	43	3	934	3	HAO2	1	119934877	Missense_Mutation	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08		119934877	129315744	1	2927										
CD244	51744	broad.mit.edu	37	chr1	160801173	160801173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aagttctccagctctttgcgGctcaatcgagcagggttctg	11	11	4	0			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr1:160801173G>A	ENST00000368033.3	-	9	1159	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	CD244_ENST00000322302.7_Silent_p.S262S|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Silent_p.S354S			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	359					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCTTTGCGGCTCAATCGAG	0.458																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(1060-1062)agC>agT		CD244 molecule, natural killer cell receptor 2B4							151	145	147					1																	160801173		2203	4300	6503	SO:0001819	synonymous_variant	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160801173G>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.1077C>T	1.37:g.160801173G>A						CD244_ENST00000368033.3_Silent_p.S359S|CD244_ENST00000322302.7_Silent_p.S262S	p.S354S	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		9	1239	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		359					Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	ENST00000368033.3	37	c.1062C>T	CCDS53399.1																																																																																				0.458	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		4	110	0	0	0	1	0	4	110					A	160801173	G	A	160801173	2	1	166	1	0	0	0	0	0	0	0	1	2987	1194	42	3		3	CD244	1	160801173	Silent	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08	40866296	160801173	88449448	2	2928										
SPEG	10290	broad.mit.edu	37	chr2	220348147	220348147	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	ctcaggaccaggaggctcccAgcccagaggccctcccctcc							TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr2:220348147delA	ENST00000312358.7	+	30	6094	c.5962delA	c.(5962-5964)agcfs	p.S1988fs	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1988					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAGGCTCCCAGCCCAGAGGC	0.731																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5962-5964)gcfs		SPEG complex locus							5	6	6					2																	220348147		1707	3881	5588	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348147delA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5962delA	2.37:g.220348147delA	ENSP00000311684:p.Ser1988fs					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.S1988fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	6094	+		Renal(207;0.0183)	1988					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.5962delA	CCDS42824.1																																																																																				0.731	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4						2	4	---	---	---	---	-	220348147	A	-	220348147	7	5	166	1	0	1	0	1	0	0	0	0	15035	188	7	0	6092	0	SPEG	2	220348147	Frame_Shift_Del	DEL	A	TCGA-WB-A81K-01A-11D-A35I-08		220348147	22851226	3	2929										
FAT4	79633	broad.mit.edu	37	chr4	126408600	126408600	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgcagacggccactggcacaCttttctaattgggaaaaatg	10	9	1	1			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr4:126408600C>G	ENST00000394329.3	+	16	12930	c.12917C>G	c.(12916-12918)aCt>aGt	p.T4306S	FAT4_ENST00000335110.5_Missense_Mutation_p.T2547S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4306	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTGGCACACTTTTCTAATT	0.398																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12916-12918)aCt>aGt		FAT atypical cadherin 4							80	82	82					4																	126408600		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408600C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12917C>G	4.37:g.126408600C>G	ENSP00000377862:p.Thr4306Ser					FAT4_ENST00000335110.5_Missense_Mutation_p.T2547S	p.T4306S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			16	12930	+			4306			Laminin G-like 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.12917C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.72	1.431081	0.25726	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79141	-1.15;-1.24	5.06	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.248964	0.20502	U	0.091070	T	0.62146	0.2404	N	0.17764	0.52	0.36175	D	0.849033	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.12837	0.005;0.008;0.005	T	0.58239	-0.7671	10	0.09084	T	0.74	.	13.8681	0.63600	0.1538:0.8462:0.0:0.0	.	2547;4306;4306	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	4306;2547	ENSP00000377862:T4306S;ENSP00000335169:T2547S	ENSP00000335169:T2547S	T	+	2	0	FAT4	126628050	0.998000	0.40836	0.942000	0.38095	0.719000	0.41307	4.146000	0.58072	1.102000	0.41551	0.650000	0.86243	ACT		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	62	0	0	0	1	0	5	62					G	126408600	C	G	126408600	3	3	166	1	0	0	0	0	1	0	0	0	5692	565	20	5	12979	5	FAT4	4	126408600	Missense_Mutation	SNP	C	TCGA-WB-A81K-01A-11D-A35I-08		126408600	64745676	4	2930										
FBXO8	26269	broad.mit.edu	37	chr4	175183979	175183979	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaagccaagcaaaggtcagTtgcattcaggtaggacaaga	12	7	2	2			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr4:175183979T>C	ENST00000393674.2	-	2	1127	c.265A>G	c.(265-267)Act>Gct	p.T89A	FBXO8_ENST00000503293.1_Intron	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	89	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CAAAGGTCAGTTGCATTCAGG	0.423																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(265-267)Act>Gct		F-box protein 8							143	123	129					4																	175183979		2203	4300	6503	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175183979T>C	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.265A>G	4.37:g.175183979T>C	ENSP00000377280:p.Thr89Ala					FBXO8_ENST00000503293.1_Intron	p.T89A	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	2	1127	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	89			F-box.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.265A>G	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311757	0.81358	.	.	ENSG00000164117	ENST00000393674;ENST00000513696	T;T	0.41758	0.99;0.99	5.67	5.67	0.87782	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	L	0.39566	1.225	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.59327	-0.7475	10	0.72032	D	0.01	.	15.9168	0.79524	0.0:0.0:0.0:1.0	.	89	Q9NRD0	FBX8_HUMAN	A	89	ENSP00000377280:T89A;ENSP00000427506:T89A	ENSP00000377280:T89A	T	-	1	0	FBXO8	175420554	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.396000	0.79891	2.166000	0.68216	0.383000	0.25322	ACT		0.423	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		9	50	0	0	0	1	0	9	50					C	175183979	T	C	175183979	3	2	166	1	0	0	0	0	1	0	0	0	5761	1725	60	4	714	4	FBXO8	4	175183979	Missense_Mutation	SNP	T	TCGA-WB-A81K-01A-11D-A35I-08	48775379	175183979	15970297	5	2931										
NSUN2	54888	broad.mit.edu	37	chr5	6600272	6600272	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgaagccgttcattcttggGcacaaaagttcgaatggagg	12	7	2	1			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr5:6600272G>T	ENST00000264670.6	-	19	2382	c.2071C>A	c.(2071-2073)Ccc>Acc	p.P691T	NSUN2_ENST00000539938.1_Missense_Mutation_p.P455T|NSUN2_ENST00000506139.1_Missense_Mutation_p.P656T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	691					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCATTCTTGGGCACAAAAGTT	0.498																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(2071-2073)Ccc>Acc		NOP2/Sun RNA methyltransferase family, member 2							83	84	84					5																	6600272		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6600272G>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2071C>A	5.37:g.6600272G>T	ENSP00000264670:p.Pro691Thr					NSUN2_ENST00000506139.1_Missense_Mutation_p.P656T|NSUN2_ENST00000539938.1_Missense_Mutation_p.P455T	p.P691T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			19	2382	-			691					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.2071C>A	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704114	0.68615	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.69040	-0.37;-0.37;-0.37	5.43	5.43	0.79202	.	0.048610	0.85682	D	0.000000	T	0.75852	0.3906	M	0.78049	2.395	0.58432	D	0.999995	D;B;B	0.54397	0.966;0.444;0.262	P;B;B	0.51016	0.656;0.206;0.206	T	0.73814	-0.3864	10	0.23891	T	0.37	-25.1087	19.2497	0.93919	0.0:0.0:1.0:0.0	.	656;691;691	B4DQW2;Q08J23;A8K529	.;NSUN2_HUMAN;.	T	691;455;656	ENSP00000264670:P691T;ENSP00000444338:P455T;ENSP00000420957:P656T	ENSP00000264670:P691T	P	-	1	0	NSUN2	6653272	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.633000	0.67825	2.532000	0.85374	0.563000	0.77884	CCC		0.498	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		3	41	1	0	0.115264	1	0.115264	3	41					T	6600272	G	T	6600272	3	4	166	1	0	0	0	0	1	0	0	0	10678	1203	42	5	236	5	NSUN2	5	6600272	Missense_Mutation	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08		6600272	174314988	6	2932										
SLC36A2	153201	broad.mit.edu	37	chr5	150722489	150722489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggagccaggcgttggggtTggcttctagtccatgcatca	14	10	2	0			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr5:150722489T>A	ENST00000335244.4	-	4	529	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	SLC36A2_ENST00000521967.1_Missense_Mutation_p.N134Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	134					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GCGTTGGGGTTGGCTTCTAGT	0.517																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(400-402)Aac>Tac		solute carrier family 36 (proton/amino acid symporter), member 2							179	143	155					5																	150722489		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150722489T>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.400A>T	5.37:g.150722489T>A	ENSP00000334223:p.Asn134Tyr					SLC36A2_ENST00000521967.1_Missense_Mutation_p.N134Y	p.N134Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	529	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	134					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.400A>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788889	0.31685	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.09445	3.81;2.98	4.87	2.51	0.30379	.	0.519730	0.22688	N	0.056855	T	0.06462	0.0166	N	0.14661	0.345	0.80722	D	1	B;B;B	0.19331	0.035;0.004;0.001	B;B;B	0.17722	0.019;0.016;0.003	T	0.26780	-1.0093	10	0.66056	D	0.02	-9.5167	8.1702	0.31249	0.0:0.2361:0.0:0.7639	.	134;134;134	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	Y	134	ENSP00000334223:N134Y;ENSP00000430535:N134Y	ENSP00000334223:N134Y	N	-	1	0	SLC36A2	150702682	0.019000	0.18553	0.969000	0.41365	0.654000	0.38779	0.627000	0.24506	0.456000	0.26937	0.533000	0.62120	AAC		0.517	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			5	68	0	0	0	1	0	5	68					A	150722489	T	A	150722489	3	1	166	1	0	0	0	0	1	0	0	0	14594	1812	63	5	1079	5	SLC36A2	5	150722489	Missense_Mutation	SNP	T	TCGA-WB-A81K-01A-11D-A35I-08	144122217	150722489	30192771	7	2933										
ECD	11319	broad.mit.edu	37	chr10	74899424	74899424	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gattagctgcttctttcttaAggtcttctatatcaaatggt	7	7	5	0	rs374769397		TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr10:74899424A>T	ENST00000372979.4	-	10	1405	c.1199T>A	c.(1198-1200)cTt>cAt	p.L400H	ECD_ENST00000454759.2_Missense_Mutation_p.L357H|ECD_ENST00000430082.2_Missense_Mutation_p.L433H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	400					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TTCTTTCTTAAGGTCTTCTAT	0.348																																						ENST00000372979.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1198-1200)cTt>cAt		ecdysoneless homolog (Drosophila)							261	282	275					10																	74899424		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74899424A>T	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1199T>A	10.37:g.74899424A>T	ENSP00000362070:p.Leu400His					ECD_ENST00000454759.1_Missense_Mutation_p.L357H|ECD_ENST00000430082.1_Missense_Mutation_p.L433H	p.L400H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN			10	1405	-	Prostate(51;0.0119)		400					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.1199T>A	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048048	0.75846	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.19669	2.13;2.13;2.13	4.78	4.78	0.61160	.	0.124899	0.56097	D	0.000036	T	0.42653	0.1212	M	0.76574	2.34	0.53688	D	0.999972	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74674	0.965;0.984;0.975	T	0.26189	-1.0110	10	0.23891	T	0.37	1.8398	12.2881	0.54803	1.0:0.0:0.0:0.0	.	357;433;400	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	H	400;433;357	ENSP00000362070:L400H;ENSP00000401566:L433H;ENSP00000395786:L357H	ENSP00000362070:L400H	L	-	2	0	ECD	74569430	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.877000	0.75562	1.985000	0.57927	0.533000	0.62120	CTT		0.348	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		17	220	0	0	0	1	0	17	220					T	74899424	A	T	74899424	3	4	166	1	0	0	0	0	1	0	0	0	4888	72	3	5	755	5	ECD	10	74899424	Missense_Mutation	SNP	A	TCGA-WB-A81K-01A-11D-A35I-08		74899424	60635323	8	2934										
PVRL1	5818	broad.mit.edu	37	chr11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-													0	0	1	0	0	0	1	1	0	gcgctcgccccctccaccgcCctcctcctcctcctcctcct					rs539461545|rs375181781|rs369523216		TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.66	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			7	33						7	33	---	---	---	---	-	119535680	CCT	-	119535678	7	5	166	1	0	1	0	1	0	0	0	0	12839	623	22	0	610	0	PVRL1	11	119535678	In_Frame_Del	DEL	CCT	TCGA-WB-A81K-01A-11D-A35I-08		119535678	15470838	9	2935										
NDNL2	56160	broad.mit.edu	37	chr15	29561154	29561154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctggtttccaggttggttcgCgggccccactggaattcgta	13	11	0	0			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr15:29561154C>T	ENST00000332303.4	-	1	879	c.756G>A	c.(754-756)ccG>ccA	p.P252P	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	252	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTTGGTTCGCGGGCCCCACT	0.532																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(754-756)ccG>ccA		necdin-like 2							83	90	88					15																	29561154		2203	4300	6503	SO:0001819	synonymous_variant	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561154C>T	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.756G>A	15.37:g.29561154C>T						FAM189A1_ENST00000261275.4_Intron	p.P252P	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	879	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	252			MAGE.		Q8IW16|Q8TEI6|Q9H214	Silent	SNP	ENST00000332303.4	37	c.756G>A	CCDS10023.1																																																																																				0.532	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		4	150	0	0	0	1	0	4	150					T	29561154	C	T	29561154	2	4	166	1	0	0	0	0	0	0	0	1	10248	755	27	1		1	NDNL2	15	29561154	Silent	SNP	C	TCGA-WB-A81K-01A-11D-A35I-08		29561154	72970238	10	2936										
PRTG	283659	broad.mit.edu	37	chr15	55965852	55965852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggacttcgacttgtcaaactAatttcaggaggtctcagggg	12	8	3	0			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr15:55965852A>G	ENST00000389286.4	-	10	1616	c.1569T>C	c.(1567-1569)atT>atC	p.I523I		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTGTCAAACTAATTTCAGGAG	0.443																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(1567-1569)atT>atC		protogenin							76	78	77					15																	55965852		1853	4091	5944	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55965852A>G	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1569T>C	15.37:g.55965852A>G							p.I523I	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1616	-			523			Fibronectin type-III 2.			Silent	SNP	ENST00000389286.4	37	c.1569T>C	CCDS42040.1																																																																																				0.443	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		8	55	0	0	0	1	0	8	55					G	55965852	A	G	55965852	2	3	166	1	0	0	0	0	0	0	0	1	12638	358	13	4		4	PRTG	15	55965852	Silent	SNP	A	TCGA-WB-A81K-01A-11D-A35I-08	26404698	55965852	46565540	11	2937										
MINK1	50488	broad.mit.edu	37	chr17	4793935	4793937	+	In_Frame_Del	DEL	CAG	CAG	-													0	0	1	0	0	0	1	1	0	agcagcagcagcttcagaaaCagcagcagcagcagctcctg							TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr17:4793935_4793937delCAG	ENST00000355280.6	+	14	1667_1669	c.1471_1473delCAG	c.(1471-1473)cagdel	p.Q495del	MINK1_ENST00000453408.3_In_Frame_Del_p.Q495del|MINK1_ENST00000347992.7_In_Frame_Del_p.Q495del	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						gcttcagaaacagcagcagcagc	0.611																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(1471-1473)del		misshapen-like kinase 1			,,,	35,3871		6,23,1924					,,,	1.4	1			16	75,7691		20,35,3828	no	coding,coding,coding,coding	MINK1	NM_170663.4,NM_153827.4,NM_015716.4,NM_001024937.3	,,,	26,58,5752	A1A1,A1R,RR		0.9657,0.8961,0.9424	,,,	,,,		110,11562				SO:0001651	inframe_deletion	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4793935_4793937delCAG	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1471_1473delCAG	17.37:g.4793944_4793946delCAG	ENSP00000347427:p.Gln495del					MINK1_ENST00000347992.7_In_Frame_Del_p.Q495del|MINK1_ENST00000453408.3_In_Frame_Del_p.Q495del	p.Q495del	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			14	1667_1669	+			495						In_Frame_Del	DEL	ENST00000355280.6	37	c.1471_1473delCAG	CCDS45588.1																																																																																				0.611	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		2	4						2	4	---	---	---	---	-	4793937	CAG	-	4793935	7	5	166	1	0	1	0	1	0	0	0	0	9587	479	17	0	1264	0	MINK1	17	4793935	In_Frame_Del	DEL	CAG	TCGA-WB-A81K-01A-11D-A35I-08		4793935	76401275	12	2938										
TAOK1	57551	broad.mit.edu	37	chr17	27834971	27834971	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcttagagaacaaatgtctGgctataagcgaatgaggcga	12	6	1	2			TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr17:27834971G>T	ENST00000261716.3	+	14	1915	c.1396G>T	c.(1396-1398)Ggc>Tgc	p.G466C	TAOK1_ENST00000536202.1_Missense_Mutation_p.G466C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	466					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACAAATGTCTGGCTATAAGCG	0.393																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1396-1398)Ggc>Tgc		TAO kinase 1							75	66	69					17																	27834971		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27834971G>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1396G>T	17.37:g.27834971G>T	ENSP00000261716:p.Gly466Cys					TAOK1_ENST00000536202.1_Missense_Mutation_p.G466C	p.G466C	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		14	1915	+			466					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.1396G>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889991	0.91889	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.34275	1.37;1.37	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;1.0	T	0.72500	-0.4274	10	0.87932	D	0	.	18.9681	0.92704	0.0:0.0:1.0:0.0	.	466;292;466	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	C	466	ENSP00000261716:G466C;ENSP00000438819:G466C	ENSP00000261716:G466C	G	+	1	0	TAOK1	24859097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.863000	0.99569	2.489000	0.83994	0.655000	0.94253	GGC		0.393	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		3	33	1	0	6.4e-05	1	7.41053e-05	3	33					T	27834971	G	T	27834971	3	4	166	1	0	0	0	0	1	0	0	0	15544	1348	47	5	1446	5	TAOK1	17	27834971	Missense_Mutation	SNP	G	TCGA-WB-A81K-01A-11D-A35I-08	23041036	27834971	53360239	13	2939										
KAT2A	2648	broad.mit.edu	37	chr17	40273004	40273005	+	Frame_Shift_Del	DEL	CT	CT	-													0	0	1	0	0	0	1	1	0	cttgcaagccgagaagacccCtagcttctcaagcttcttgg							TCGA-WB-A81K-01A-11D-A35I-08	TCGA-WB-A81K-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c745e12-f34a-43b4-907f-25f18f3092ff	47fd631e-685a-4b72-8555-f76929369287	g.chr17:40273004_40273005delCT	ENST00000225916.5	-	1	371_372	c.318_319delAG	c.(316-321)ctagggfs	p.G107fs	HSPB9_ENST00000355067.3_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	107					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGAAGACCCCTAGCTTCTCAA	0.693																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(316-321)ctggfs		K(lysine) acetyltransferase 2A																																				SO:0001589	frameshift_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40273004_40273005delCT	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.318_319delAG	17.37:g.40273004_40273005delCT	ENSP00000225916:p.Gly107fs					CTD-2132N18.3_ENST00000592574.1_Intron	p.LG106fs	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			1	371_372	-			106					Q8N1A2|Q9UCW1	Frame_Shift_Del	DEL	ENST00000225916.5	37	c.318_319delAG	CCDS11417.1																																																																																				0.693	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		2	4						2	4	---	---	---	---	-	40273005	CT	-	40273004	7	5	166	1	0	1	0	1	0	0	0	0	7981	681	24	0	2266	0	KAT2A	17	40273004	Frame_Shift_Del	DEL	CT	TCGA-WB-A81K-01A-11D-A35I-08	12438033	40273004	40922206	14	2940										
FAF1	11124	broad.mit.edu	37	chr1	51121170	51121170	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	taattggtggcgaacggggaTacttgtaaggtcatacacat	12	6	1	0			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:51121170T>C	ENST00000396153.2	-	8	1139	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	FAF1_ENST00000371778.4_Missense_Mutation_p.I230V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	230					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CGAACGGGGATACTTGTAAGG	0.368																																						ENST00000396153.2																			1	Whole gene deletion(1)	p.0?(1)	thyroid(1)	breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(688-690)Atc>Gtc		Fas (TNFRSF6) associated factor 1							125	118	121					1																	51121170		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51121170T>C	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.688A>G	1.37:g.51121170T>C	ENSP00000379457:p.Ile230Val					FAF1_ENST00000371778.4_Missense_Mutation_p.I230V	p.I230V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	8	1139	-			230					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.688A>G	CCDS554.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.119323	0.77323	.	.	ENSG00000185104	ENST00000396153;ENST00000371778	T;T	0.28895	1.59;1.59	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.39820	-0.9595	10	0.37606	T	0.19	-11.8054	16.8222	0.85835	0.0:0.0:0.0:1.0	.	230	Q9UNN5	FAF1_HUMAN	V	230	ENSP00000379457:I230V;ENSP00000360843:I230V	ENSP00000360843:I230V	I	-	1	0	FAF1	50893758	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.615000	0.74201	2.371000	0.80710	0.533000	0.62120	ATC		0.368	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		25	5	0	0	0	1	0	25	5					C	51121170	T	C	51121170	3	2	167	1	0	0	0	0	1	0	0	0	5369	1406	49	4	1312	4	FAF1	1	51121170	Missense_Mutation	SNP	T	TCGA-WB-A81M-01A-11D-A35I-08		51121170	198129451	1	2941										
CSDE1	7812	broad.mit.edu	37	chr1	115272911	115272912	+	Frame_Shift_Ins	INS	-	-	C													0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	ttatttgggctagtggttttINSaggattggaaaaagtggctt							TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:115272911_115272912insC	ENST00000358528.4	-	12	1749_1750	c.1323_1324insG	c.(1321-1326)cctaaafs	p.K442fs	CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.K312fs|CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.K457fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.K442fs|CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.K411fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.K411fs|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000438362.2_Frame_Shift_Ins_p.K488fs	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	442					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGTGGTTTTAGGATTGGAAA	0.381																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1459-1464)ccaaacfs		cold shock domain containing E1, RNA-binding																																				SO:0001589	frameshift_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272911_115272912insC		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1323_1324insG	1.37:g.115272911_115272912insC	ENSP00000351329:p.Lys442fs					CSDE1_ENST00000358528.4_Frame_Shift_Ins_p.N442fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.N442fs|CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.N411fs|CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.N312fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.N411fs|CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.N457fs	p.N488fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1839_1840	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	442			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Ins	INS	ENST00000358528.4	37	c.1461_1462insG	CCDS30812.1																																																																																				0.381	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		36	8						36	8	---	---	---	---	C	115272912	-	C	115272911	7	5	167	1	0	1	1	0	0	0	0	0	3929	1763	61	0	1108	0	CSDE1	1	115272911	Frame_Shift_Ins	INS	-	TCGA-WB-A81M-01A-11D-A35I-08	64151741	115272911	133977710	2	2942										
LRRN2	10446	broad.mit.edu	37	chr1	204587794	204587794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	ggccagtgcccggcaatgcaGcaccatgctctctccactgg	11	16	1	0			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:204587794G>A	ENST00000367175.1	-	1	3539	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	LRRN2_ENST00000367177.3_Silent_p.L443L|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Silent_p.L443L|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	443	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGGCAATGCAGCACCATGCTC	0.632																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1327-1329)Ctg>Ttg		leucine rich repeat neuronal 2							53	44	47					1																	204587794		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587794G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1327C>T	1.37:g.204587794G>A						LRRN2_ENST00000367176.3_Silent_p.L443L|LRRN2_ENST00000367177.3_Silent_p.L443L	p.L443L			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3539	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		443			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.1327C>T	CCDS1448.1																																																																																				0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		3	30	0	0	0	1	0	3	30					A	204587794	G	A	204587794	2	1	167	1	0	0	0	0	0	0	0	1	9035	962	34	3		3	LRRN2	1	204587794	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08	89314883	204587794	44662827	3	2943										
MTR	4548	broad.mit.edu	37	chr1	237024423	237024423	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	tttttttttttgtcttttttAgggcattgaaaaacatatta	5	3	1	1			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323																																						ENST00000366577.5																			1	Unknown(1)	p.?(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e20-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28	28	28					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2044-1A>T	1.37:g.237024423A>T						MTR_ENST00000535889.1_Intron		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2437	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	6	17	0	0	0	1	0	6	17					T	237024423	A	T	237024423	5	4	167	1	0	0	0	0	0	0	1	0	9958	434	15	5	2120	5	MTR	1	237024423	Splice_Site	SNP	A	TCGA-WB-A81M-01A-11D-A35I-08	32436629	237024423	12226198	4	2944										
SPEG	10290	broad.mit.edu	37	chr2	220348359	220348359	+	Frame_Shift_Del	DEL	G	G	-													0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	cgcctggcccggggaggcctGggtgagggcgagtatgccca							TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr2:220348359delG	ENST00000312358.7	+	30	6306	c.6174delG	c.(6172-6174)ctgfs	p.L2058fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2058					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGAGGCCTGGGTGAGGGCG	0.776																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(6172-6174)ctfs		SPEG complex locus							2	2	2					2																	220348359		936	2190	3126	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348359delG	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6174delG	2.37:g.220348359delG	ENSP00000311684:p.Leu2058fs					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.L2058fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	6306	+		Renal(207;0.0183)	2058					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.6174delG	CCDS42824.1																																																																																				0.776	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4						2	4	---	---	---	---	-	220348359	G	-	220348359	7	5	167	1	0	1	0	1	0	0	0	0	15035	1335	47	0	6304	0	SPEG	2	220348359	Frame_Shift_Del	DEL	G	TCGA-WB-A81M-01A-11D-A35I-08		220348359	22851014	5	2945										
KBTBD8	84541	broad.mit.edu	37	chr3	67054375	67054375	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	aatgacctgagagaagttggGattcttgtatcaccagataa	10	6	2	4			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr3:67054375G>T	ENST00000417314.2	+	3	1033	c.984G>T	c.(982-984)ggG>ggT	p.G328G	KBTBD8_ENST00000295568.4_Silent_p.G302G|KBTBD8_ENST00000460576.1_Intron			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	328						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GAGAAGTTGGGATTCTTGTAT	0.433																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(904-906)ggG>ggT		kelch repeat and BTB (POZ) domain containing 8							141	135	137					3																	67054375		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054375G>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"BTB/POZ domain containing"	30691	protein-coding gene	gene with protein product	"T-cell activation kelch repeat protein"					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.984G>T	3.37:g.67054375G>T						KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.G328G	p.G302G	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1037	+		Lung NSC(201;0.0765)	328					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.906G>T	CCDS2906.2																																																																																				0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		11	103	1	0	0.000978159	1	0.00111154	11	103					T	67054375	G	T	67054375	2	4	167	1	0	0	0	0	0	0	0	1	7999	1161	41	5		5	KBTBD8	3	67054375	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		67054375	130968055	6	2946										
KIT	3815	broad.mit.edu	37	chr4	55575675	55575675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	tgtccaattctgacgtcaatGctgccatagcatttaatgtt	7	9	2	1			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr4:55575675G>A	ENST00000288135.5	+	7	1298	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	401	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGTCAATGCTGCCATAGC	0.368		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(1201-1203)Gct>Act		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						110	103	106					4																	55575675		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55575675G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1201G>A	4.37:g.55575675G>A	ENSP00000288135:p.Ala401Thr						p.A401T	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	7	1298	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		401			Ig-like C2-type 4.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1201G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	5.307	0.242044	0.10077	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.56275	0.47;0.47	5.89	0.14	0.14804	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.445683	0.21355	N	0.075914	T	0.39279	0.1072	L	0.39898	1.24	0.26038	N	0.981645	B;B	0.11235	0.003;0.004	B;B	0.10450	0.005;0.004	T	0.29671	-1.0004	10	0.34782	T	0.22	.	10.0776	0.42370	0.0818:0.0:0.4179:0.5003	.	401;401	P10721-2;P10721	.;KIT_HUMAN	T	401	ENSP00000288135:A401T;ENSP00000390987:A401T	ENSP00000288135:A401T	A	+	1	0	KIT	55270432	0.807000	0.29009	0.296000	0.24974	0.009000	0.06853	0.954000	0.29175	0.229000	0.21039	-0.270000	0.10280	GCT		0.368	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			4	84	0	0	0	1	0	4	84					A	55575675	G	A	55575675	3	1	167	1	0	0	0	0	1	0	0	0	8329	1319	46	3	1227	3	KIT	4	55575675	Missense_Mutation	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		55575675	135578601	7	2947										
RBM17	84991	broad.mit.edu	37	chr10	6154185	6154185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	cctgccaggggcacggtggcGcacaagatcatgcagaagta	14	11	1	2	rs148263630	byFrequency	TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr10:6154185G>A	ENST00000446108.1	+	8	1361	c.717G>A	c.(715-717)gcG>gcA	p.A239A	RBM17_ENST00000379888.4_Silent_p.A239A	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	239	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GCACGGTGGCGCACAAGATCA	0.557													G|||	7	0.00139776	0	0	5008	,	,		19150	0		0.001	False		,,,				2504	0.0061					ENST00000446108.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						c.(715-717)gcG>gcA		RNA binding motif protein 17		G	,	1,4405	2.1+/-5.4	0,1,2202	61	57	58		717,717	-10.8	0.7	10	dbSNP_134	58	17,8583	11.9+/-42.8	1,15,4284	no	coding-synonymous,coding-synonymous	RBM17	NM_001145547.1,NM_032905.4	,	1,16,6486	AA,AG,GG		0.1977,0.0227,0.1384	,	239/402,239/402	6154185	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6154185G>A	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"RNA binding motif (RRM) containing", "G patch domain containing"	16944	protein-coding gene	gene with protein product	"splicing factor 45kDa"	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.717G>A	10.37:g.6154185G>A						RBM17_ENST00000379888.4_Silent_p.A239A	p.A239A	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN			8	1361	+			239			G-patch.		Q96GY6	Silent	SNP	ENST00000446108.1	37	c.717G>A	CCDS7077.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.056	-0.674345	0.03378	2.27E-4	0.001977	ENSG00000134453	ENST00000447032	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.30541	0.0768	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42224	-0.9464	4	.	.	.	-21.2661	0.4896	0.00562	0.2071:0.2128:0.2105:0.3696	.	.	.	.	H	146	.	.	R	+	2	0	RBM17	6194191	0.117000	0.22190	0.737000	0.30932	0.018000	0.09664	-0.492000	0.06467	-1.543000	0.01723	-0.253000	0.11424	CGC		0.557	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		3	36	0	0	0	1	0	3	36					A	6154185	G	A	6154185	2	1	167	1	0	0	0	0	0	0	0	1	13119	1074	38	1		1	RBM17	10	6154185	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		6154185	129380562	8	2948										
PAOX	196743	broad.mit.edu	37	chr10	135193918	135193918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	tgtgtgagcggcacccacagCatggacctggtggccctggc	15	13	0	1			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr10:135193918C>A	ENST00000278060.5	+	2	680	c.597C>A	c.(595-597)agC>agA	p.S199R	PAOX_ENST00000357296.3_Missense_Mutation_p.S199R|PAOX_ENST00000480071.2_Missense_Mutation_p.S199R|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	337					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GCACCCACAGCATGGACCTGG	0.627																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(595-597)agC>agA		polyamine oxidase (exo-N4-amino)							32	36	34					10																	135193918		2202	4300	6502	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135193918C>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.597C>A	10.37:g.135193918C>A	ENSP00000278060:p.Ser199Arg					PAOX_ENST00000357296.3_Missense_Mutation_p.S199R|PAOX_ENST00000480071.2_Missense_Mutation_p.S199R|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_Intron	p.S199R	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	2	680	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	337					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.597C>A	CCDS7683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.878960|3.878960	0.72294|0.72294	.|.	.|.	ENSG00000148832|ENSG00000148832	ENST00000368534|ENST00000368542;ENST00000278060;ENST00000357296;ENST00000480071	.|D;D;D	.|0.92545	.|-3.06;-3.06;-3.06	4.74|4.74	1.3|1.3	0.21679|0.21679	.|.	.|0.079629	.|0.85682	.|D	.|0.000000	.|D	.|0.94837	.|0.8332	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;0.996	.|D;D;D	.|0.75484	.|0.986;0.968;0.943	.|D	.|0.93085	.|0.6495	.|10	.|0.87932	.|D	.|0	.|-33.3414	7.2886|7.2886	0.26354|0.26354	0.0:0.5827:0.0:0.4173|0.0:0.5827:0.0:0.4173	.|.	.|199;199;199	.|Q6QHF9-5;Q6QHF9-4;Q6QHF9-2	.|.;.;.	.|R	-1|199	.|ENSP00000278060:S199R;ENSP00000349847:S199R;ENSP00000435514:S199R	.|ENSP00000278060:S199R	.|S	+|+	.|3	.|2	PAOX|PAOX	135043908|135043908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.781000|2.781000	0.47750|0.47750	0.422000|0.422000	0.26005|0.26005	0.563000|0.563000	0.77884|0.77884	.|AGC		0.627	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		3	34	1	0	0.004672	1	0.00486667	3	34					A	135193918	C	A	135193918	3	1	167	1	0	0	0	0	1	0	0	0	11423	709	25	5	603	5	PAOX	10	135193918	Missense_Mutation	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08	129039733	135193918	340829	9	2949										
MUC2	4583	broad.mit.edu	37	chr11	1090951	1090951	+	Frame_Shift_Del	DEL	T	T	-													0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	acccccaccaccttcaccacTaccaccaccaccaccacccc					rs72655327|rs72655328		TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr11:1090951delT	ENST00000441003.2	+	28	3873	c.3846delT	c.(3844-3846)actfs	p.T1288fs	MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1289fs|MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1288					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccttcaccactaccaccacca	0.617																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3844-3846)acfs		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						44	46	45					11																	1090951		2016	4147	6163	SO:0001589	frameshift_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1090951delT	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3846delT	11.37:g.1090951delT	ENSP00000415183:p.Thr1288fs					MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1289fs	p.T1288fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	28	3873	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1288					Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37	c.3846delT																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		2	4						2	4	---	---	---	---	-	1090951	T	-	1090951	7	5	167	1	0	1	0	1	0	0	0	0	9975	1509	53	0	3956	0	MUC2	11	1090951	Frame_Shift_Del	DEL	T	TCGA-WB-A81M-01A-11D-A35I-08		1090951	133915565	10	2950										
PANX3	116337	broad.mit.edu	37	chr11	124489205	124489205	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	tgcccagggctcggaaagaaCgatactttgaattccctttg	10	10	0	2	rs575063752		TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr11:124489205C>A	ENST00000284288.2	+	4	620	c.553C>A	c.(553-555)Cga>Aga	p.R185R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	185					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TCGGAAAGAACGATACTTTGA	0.488																																						ENST00000284288.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26						c.(553-555)Cga>Aga		pannexin 3							123	101	108					11																	124489205		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489205C>A	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"Ion channels / Pannexins"	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.553C>A	11.37:g.124489205C>A							p.R185R	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	620	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	185						Silent	SNP	ENST00000284288.2	37	c.553C>A	CCDS8447.1																																																																																				0.488	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			21	28	1	0	3.5997e-14	1	4.49962e-14	21	28					A	124489205	C	A	124489205	2	1	167	1	0	0	0	0	0	0	0	1	11422	528	19	5		5	PANX3	11	124489205	Silent	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08	123398254	124489205	10517311	11	2951										
ROBO3	64221	broad.mit.edu	37	chr11	124739959	124739959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	tgcggcagctgaagtcatggTactgggtaggcacagggaat	16	7	1	1			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr11:124739959T>C	ENST00000397801.1	+	4	953	c.761T>C	c.(760-762)gTa>gCa	p.V254A	ROBO3_ENST00000538940.1_Missense_Mutation_p.V232A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	254					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAAGTCATGGTACTGGGTAGG	0.522																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(760-762)gTa>gCa		roundabout, axon guidance receptor, homolog 3 (Drosophila)							101	117	112					11																	124739959		2049	4199	6248	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124739959T>C	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.761T>C	11.37:g.124739959T>C	ENSP00000380903:p.Val254Ala					ROBO3_ENST00000538940.1_Missense_Mutation_p.V232A	p.V254A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	4	953	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	254						Missense_Mutation	SNP	ENST00000397801.1	37	c.761T>C	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334680	0.60853	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.62364	0.03;0.03	4.72	4.72	0.59763	Immunoglobulin-like fold (1);	0.000000	0.30639	U	0.009188	D	0.84534	0.5493	H	0.95079	3.62	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.89281	0.3612	10	0.87932	D	0	.	14.1511	0.65384	0.0:0.0:0.0:1.0	.	254	Q96MS0	ROBO3_HUMAN	A	254;232	ENSP00000380903:V254A;ENSP00000441797:V232A	ENSP00000380903:V254A	V	+	2	0	ROBO3	124245169	1.000000	0.71417	0.459000	0.27081	0.126000	0.20510	7.902000	0.87389	1.895000	0.54865	0.379000	0.24179	GTA		0.522	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		19	18	0	0	0	1	0	19	18					C	124739959	T	C	124739959	3	2	167	1	0	0	0	0	1	0	0	0	13515	1638	57	4	775	4	ROBO3	11	124739959	Missense_Mutation	SNP	T	TCGA-WB-A81M-01A-11D-A35I-08	250754	124739959	10266557	12	2952										
PIF1	80119	broad.mit.edu	37	chr15	65108897	65108897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	ggctgcgggcccgagaaaggGccacataggcctggccactg	16	13	0	1			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr15:65108897G>A	ENST00000268043.4	-	12	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	PIF1_ENST00000559239.1_Missense_Mutation_p.A581V|PIF1_ENST00000333425.6_Missense_Mutation_p.A581V					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CCGAGAAAGGGCCACATAGGC	0.622																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1741-1743)gCc>gTc		PIF1 5'-to-3' DNA helicase							49	49	49					15																	65108897		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65108897G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1742C>T	15.37:g.65108897G>A	ENSP00000268043:p.Ala581Val					PIF1_ENST00000559239.1_Missense_Mutation_p.A581V|PIF1_ENST00000333425.6_Missense_Mutation_p.A581V	p.A581V			Q9H611	PIF1_HUMAN			12	1836	-			581			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1742C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	36	5.740822	0.96873	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.38560	1.13;1.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80999	-0.1131	10	0.87932	D	0	-23.7146	17.3974	0.87450	0.0:0.0:1.0:0.0	.	581	Q9H611	PIF1_HUMAN	V	581	ENSP00000268043:A581V;ENSP00000328174:A581V	ENSP00000268043:A581V	A	-	2	0	PIF1	62895950	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.797000	0.99108	2.706000	0.92434	0.655000	0.94253	GCC		0.622	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		8	60	0	0	0	1	0	8	60					A	65108897	G	A	65108897	3	1	167	1	0	0	0	0	1	0	0	0	11883	1203	42	3	191	3	PIF1	15	65108897	Missense_Mutation	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08		65108897	37422495	13	2953										
ARID3A	1820	broad.mit.edu	37	chr19	964334	964334	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	tggtgacggagaagggcggcCtcgtggaggtcatcaacaag	17	8	2	2			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr19:964334C>A	ENST00000263620.3	+	5	1180	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	285	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGGCCTCGTGGAGGT	0.612																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(853-855)Ctc>Atc		AT rich interactive domain 3A (BRIGHT-like)							163	121	135					19																	964334		2203	4299	6502	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964334C>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.853C>A	19.37:g.964334C>A	ENSP00000263620:p.Leu285Ile						p.L285I	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1180	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	285			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.853C>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076111	0.76415	.	.	ENSG00000116017	ENST00000263620	T	0.64438	-0.1	4.5	4.5	0.54988	ARID/BRIGHT DNA-binding domain (5);	0.072721	0.56097	D	0.000026	T	0.73544	0.3600	M	0.66939	2.045	0.80722	D	1	P	0.47302	0.893	D	0.65773	0.938	T	0.75428	-0.3321	10	0.72032	D	0.01	-1.5464	8.525	0.33300	0.0:0.8916:0.0:0.1084	.	285	Q99856	ARI3A_HUMAN	I	285	ENSP00000263620:L285I	ENSP00000263620:L285I	L	+	1	0	ARID3A	915334	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.727000	0.54984	2.061000	0.61500	0.561000	0.74099	CTC		0.612	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	24	1	0	0.150653	1	0.150653	3	24					A	964334	C	A	964334	3	1	167	1	0	0	0	0	1	0	0	0	916	681	24	5	867	5	ARID3A	19	964334	Missense_Mutation	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08		964334	58164649	14	2954										
PRX	57716	broad.mit.edu	37	chr19	40900182	40900182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	ccttccccactgccctcttcCtcctcctcctcctcctcctc	1	26	1	0	rs139624657|rs142743305		TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr19:40900182C>T	ENST00000324001.7	-	7	4347	c.4077G>A	c.(4075-4077)gaG>gaA	p.E1359E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCcctcttcctcctcctcct	0.697																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4077)gaG>gaA		periaxin							16	16	16					19																	40900182		2198	4297	6495	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900182C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077G>A	19.37:g.40900182C>T						PRX_ENST00000291825.7_3'UTR	p.E1359E	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.4077G>A	CCDS33028.1																																																																																				0.697	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		3	19	0	0	0	1	0	3	19					T	40900182	C	T	40900182	2	4	167	1	0	0	0	0	0	0	0	1	12642	680	24	3		3	PRX	19	40900182	Silent	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08	39935848	40900182	18228801	15	2955										
EHD2	30846	broad.mit.edu	37	chr19	48239781	48239781	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	ggggactttcctgattgccaGaaaatgcaggtgggaagctg	15	7	0	2			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr19:48239781G>A	ENST00000263277.3	+	5	1322	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	EHD2_ENST00000538399.1_Silent_p.Q221Q|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	357					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGATTGCCAGAAAATGCAGG	0.532																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1069-1071)caG>caA		EH-domain containing 2							76	72	73					19																	48239781		2203	4300	6503	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48239781G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1071G>A	19.37:g.48239781G>A						EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.Q221Q	p.Q357Q	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	5	1322	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	357					B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.1071G>A	CCDS12704.1																																																																																				0.532	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			16	20	0	0	0	1	0	16	20					A	48239781	G	A	48239781	2	1	167	1	0	0	0	0	0	0	0	1	4978	933	33	3		3	EHD2	19	48239781	Silent	SNP	G	TCGA-WB-A81M-01A-11D-A35I-08	7339599	48239781	10889202	16	2956										
SALL4	57167	broad.mit.edu	37	chr20	50407310	50407310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	gacagcttaagactcggtggCaaatgagacattcgttggga	13	7	0	2			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chr20:50407310C>T	ENST00000217086.4	-	2	1823	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	571					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACTCGGTGGCAAATGAGACA	0.547																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1711-1713)tGc>tAc		spalt-like transcription factor 4							130	111	117					20																	50407310		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407310C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1712G>A	20.37:g.50407310C>T	ENSP00000217086:p.Cys571Tyr					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.C571Y	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	1823	-			571					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1712G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100425	0.76983	.	.	ENSG00000101115	ENST00000217086	T	0.57752	0.38	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000133	T	0.78685	0.4322	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82402	-0.0475	10	0.87932	D	0	-20.1912	19.5703	0.95409	0.0:1.0:0.0:0.0	.	571	Q9UJQ4	SALL4_HUMAN	Y	571	ENSP00000217086:C571Y	ENSP00000217086:C571Y	C	-	2	0	SALL4	49840717	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.813000	0.86123	2.620000	0.88729	0.650000	0.86243	TGC		0.547	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			50	58	0	0	0	1	0	50	58					T	50407310	C	T	50407310	3	4	167	1	0	0	0	0	1	0	0	0	13813	710	25	3	1461	3	SALL4	20	50407310	Missense_Mutation	SNP	C	TCGA-WB-A81M-01A-11D-A35I-08		50407310	12618210	17	2957										
SYTL4	94121	broad.mit.edu	37	chrX	99945087	99945087	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	1	1	1.27380952380952	NA	1.27380952380952	1	1	0	gttacctgaaggcctgaggaTttttctggtgttcttcttaa	10	7	3	2			TCGA-WB-A81M-01A-11D-A35I-08	TCGA-WB-A81M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	befe16ec-3f43-439f-83f8-026df4c06e29	da047bf6-64c5-4fbd-aa9e-7f963c8ee970	g.chrX:99945087T>A	ENST00000372989.1	-	10	1124	c.793A>T	c.(793-795)Atc>Ttc	p.I265F	SYTL4_ENST00000455616.1_Missense_Mutation_p.I265F|SYTL4_ENST00000263033.5_Missense_Mutation_p.I265F|SYTL4_ENST00000454200.2_Missense_Mutation_p.I266F|SYTL4_ENST00000276141.6_Missense_Mutation_p.I265F|SYTL4_ENST00000372981.1_Missense_Mutation_p.I265F	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	265					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GGCCTGAGGATTTTTCTGGTG	0.443																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(793-795)Atc>Ttc		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						85	74	77					X																	99945087		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99945087T>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.793A>T	X.37:g.99945087T>A	ENSP00000362080:p.Ile265Phe					SYTL4_ENST00000454200.2_Missense_Mutation_p.I266F|SYTL4_ENST00000263033.5_Missense_Mutation_p.I265F|SYTL4_ENST00000372989.1_Missense_Mutation_p.I265F|SYTL4_ENST00000276141.6_Missense_Mutation_p.I265F|SYTL4_ENST00000455616.1_Missense_Mutation_p.I265F	p.I265F			Q96C24	SYTL4_HUMAN			8	979	-			265					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.793A>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	t	6.098	0.386359	0.11524	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.64991	2.01;2.01;2.0;2.01;2.01;-0.13	5.7	1.65	0.23941	.	0.798927	0.12227	N	0.487785	T	0.46190	0.1380	L	0.40543	1.245	0.19300	N	0.999974	B;B	0.22909	0.077;0.001	B;B	0.15052	0.012;0.002	T	0.26538	-1.0100	9	.	.	.	-6.0553	4.81	0.13339	0.0:0.4154:0.1704:0.4141	.	265;265	Q96C24-2;Q96C24	.;SYTL4_HUMAN	F	265;265;266;265;265;265	ENSP00000362080:I265F;ENSP00000390252:I265F;ENSP00000403556:I266F;ENSP00000276141:I265F;ENSP00000263033:I265F;ENSP00000362072:I265F	.	I	-	1	0	SYTL4	99831743	0.394000	0.25246	0.983000	0.44433	0.987000	0.75469	-0.131000	0.10482	0.299000	0.22661	0.478000	0.44815	ATC		0.443	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		8	40	0	0	0	1	0	8	40					A	99945087	T	A	99945087	3	1	167	1	0	0	0	0	1	0	0	0	15482	1493	52	5	1262	5	SYTL4	23	99945087	Missense_Mutation	SNP	T	TCGA-WB-A81M-01A-11D-A35I-08		99945087	55325473	18	2958										
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													0	0	1	0	NA	0	1	1	0	accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	10	36						10	36	---	---	---	---	A	165712551	-	A	165712550	8	5	168	1	0	1	1	0	0	0	1	0	15992	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-WB-A81N-01A-11D-A35I-08		165712550	83538071	1	2959										
SOX11	6664	broad.mit.edu	37	chr2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-													0	0	1	0	NA	0	1	1	0	agtgcgtgtttctggatgagGacgacgacgacgacgacgac							TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(673-675)del		SRY (sex determining region Y)-box 11				5,289,3358		0,0,5,14,261,1546						-1.6	1			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SO:0001651	inframe_deletion	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833526_5833528delGAC		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del						p.D233del	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	728_730	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		233			Poly-Asp.		Q4ZFV8	In_Frame_Del	DEL	ENST00000322002.3	37	c.673_675delGAC	CCDS1654.1																																																																																				0.7	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		2	4						2	4	---	---	---	---	-	5833528	GAC	-	5833526	7	5	168	1	0	1	0	1	0	0	0	0	14942	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-WB-A81N-01A-11D-A35I-08		5833526	237365847	2	2960										
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			2	3	1	0	0.115264	1	0.115264	2	3					T	13711709	G	T	13711709	3	4	168	1	0	0	0	0	1	0	0	0	13032	1116	39	5	2216	5	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-WB-A81N-01A-11D-A35I-08		13711709	157403358	3	2961										
FAM75C1	441452	broad.mit.edu	37	chr9	90535520	90535520	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcctgctctccacctcctcCgaaaggcttcactcctcctc	6	20	2	0			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr9:90535520C>T	ENST00000602681.1	+	0	1424							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCACCTCCTCCGAAAGGCTTC	0.592																																						ENST00000602681.1																			0																				85	70	74					9																	90535520		692	1591	2283			441452							g.chr9:90535520C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535520C>T														0	1424	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	129	0	0	0	1	0	5	129					T	90535520	C	T	90535520	1	4	168	0	1	0	0	0	0	0	0	0	5623	652	23	2		2	FAM75C1	9	90535520	RNA	SNP	C	TCGA-WB-A81N-01A-11D-A35I-08		90535520	50677911	4	2962										
PRPF40B	25766	broad.mit.edu	37	chr12	50036752	50036752	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	acaccaaaggccgaaagcatGgcaggaaaggcaagaagcac							TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr12:50036752delG	ENST00000380281.1	+	21	2159	c.2095delG	c.(2095-2097)ggcfs	p.G699fs	PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.G686fs|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.G720fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	699					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCGAAAGCATGGCAGGAAAGG	0.547																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2056-2058)gcfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							150	121	131					12																	50036752		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036752delG	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2095delG	12.37:g.50036752delG	ENSP00000369634:p.Gly699fs					PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.G699fs|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.G720fs	p.G686fs			Q6NWY9	PR40B_HUMAN			21	2607	+			699					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.2056delG																																																																																					0.547	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		2	4						2	4	---	---	---	---	-	50036752	G	-	50036752	7	5	168	1	0	1	0	1	0	0	0	0	12572	1348	47	0	2177	0	PRPF40B	12	50036752	Frame_Shift_Del	DEL	G	TCGA-WB-A81N-01A-11D-A35I-08		50036752	83815143	5	2963										
CCT2	10576	broad.mit.edu	37	chr12	69981763	69981763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	atggcactacctctgttaccGttttagcagcagaattatta	7	9	1	1			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr12:69981763G>A	ENST00000299300.6	+	5	498	c.310G>A	c.(310-312)Gtt>Att	p.V104I	CCT2_ENST00000543146.2_Missense_Mutation_p.V57I|CCT2_ENST00000544368.2_Missense_Mutation_p.V104I	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	104					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCTGTTACCGTTTTAGCAGC	0.358																																						ENST00000543146.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(169-171)Gtt>Att		chaperonin containing TCP1, subunit 2 (beta)							122	125	124					12																	69981763		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69981763G>A	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.310G>A	12.37:g.69981763G>A	ENSP00000299300:p.Val104Ile					CCT2_ENST00000544368.2_Missense_Mutation_p.V104I|CCT2_ENST00000299300.6_Missense_Mutation_p.V104I	p.V57I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		5	651	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		104					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.169G>A	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650704	0.67472	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.77489	-1.1;-1.1;-1.1	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.828;0.999	T	0.83263	-0.0047	9	.	.	.	-19.312	15.2491	0.73529	0.0:0.1399:0.8601:0.0	.	104;104	F5GWF6;P78371	.;TCPB_HUMAN	I	104;104;57	ENSP00000299300:V104I;ENSP00000441847:V104I;ENSP00000445471:V57I	.	V	+	1	0	CCT2	68268030	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.650000	0.83521	2.665000	0.90641	0.650000	0.86243	GTT		0.358	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		4	49	0	0	0	1	0	4	49					A	69981763	G	A	69981763	3	1	168	1	0	0	0	0	1	0	0	0	2953	1145	40	1	328	1	CCT2	12	69981763	Missense_Mutation	SNP	G	TCGA-WB-A81N-01A-11D-A35I-08	19945011	69981763	63870132	6	2964										
SMYD4	114826	broad.mit.edu	37	chr17	1686379	1686379	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agctcatggcccatttcaacActggacggcccgtggcgaac	11	14	2	0			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr17:1686379A>G	ENST00000305513.7	-	10	2378	c.2211T>C	c.(2209-2211)agT>agC	p.S737S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	737							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCATTTCAACACTGGACGGCC	0.517																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(2209-2211)agT>agC		SET and MYND domain containing 4							75	79	77					17																	1686379		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1686379A>G	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2211T>C	17.37:g.1686379A>G							p.S737S	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			10	2378	-			737					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.2211T>C	CCDS11013.1																																																																																				0.517	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		3	32	0	0	0	1	0	3	32					G	1686379	A	G	1686379	2	3	168	1	0	0	0	0	0	0	0	1	14824	156	6	4		4	SMYD4	17	1686379	Silent	SNP	A	TCGA-WB-A81N-01A-11D-A35I-08		1686379	79508831	7	2965										
SLFN11	91607	broad.mit.edu	37	chr17	33690016	33690016	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	NA	0	1	1	0	ggcttgttctattttccttcTcaaagagtcagggtcaacat							TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr17:33690016delT	ENST00000394566.1	-	4	1083	c.811delA	c.(811-813)agafs	p.R272fs	SLFN11_ENST00000308377.4_Frame_Shift_Del_p.R272fs	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	272					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTTCCTTCTCAAAGAGTCA	0.398																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(811-813)gafs		schlafen family member 11							174	176	175					17																	33690016		2203	4300	6503	SO:0001589	frameshift_variant	91607					nucleus	ATP binding	g.chr17:33690016delT	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.811delA	17.37:g.33690016delT	ENSP00000378067:p.Arg272fs					SLFN11_ENST00000308377.4_Frame_Shift_Del_p.R272fs	p.R272fs	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1083	-		Ovarian(249;0.17)	272					E1P643|Q8N3S8|Q8N762|Q8TEE0	Frame_Shift_Del	DEL	ENST00000394566.1	37	c.811delA	CCDS11294.1																																																																																				0.398	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		8	86						8	86	---	---	---	---	-	33690016	T	-	33690016	7	5	168	1	0	1	0	1	0	0	0	0	14733	1559	54	0	1910	0	SLFN11	17	33690016	Frame_Shift_Del	DEL	T	TCGA-WB-A81N-01A-11D-A35I-08	32003637	33690016	47505194	8	2966										
RFNG	5986	broad.mit.edu	37	chr17	80007802	80007802	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acccccactcacctggcccaTgggctcatcttgagggcaag	10	16	3	1			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chr17:80007802T>C	ENST00000310496.4	-	5	661	c.654A>G	c.(652-654)ccA>ccG	p.P218P	GPS1_ENST00000392358.2_5'Flank|GPS1_ENST00000578552.1_5'Flank|GPS1_ENST00000306823.6_5'Flank|RFNG_ENST00000584838.1_5'UTR|GPS1_ENST00000355130.2_5'Flank|GPS1_ENST00000320548.4_5'Flank|RFNG_ENST00000429557.3_Silent_p.P92P	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	218					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCTGGCCCATGGGCTCATCT	0.652																																						ENST00000310496.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(652-654)ccA>ccG		RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							30	31	31					17																	80007802		2198	4299	6497	SO:0001819	synonymous_variant	5986				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr17:80007802T>C	BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"Beta 3-glycosyltransferases"	9974	protein-coding gene	gene with protein product		602578	"radical fringe (Drosophila) homolog", "radical fringe homolog (Drosophila)"			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.654A>G	17.37:g.80007802T>C						RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.P92P	p.P218P	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		5	661	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		218					O00588	Silent	SNP	ENST00000310496.4	37	c.654A>G	CCDS32773.1																																																																																				0.652	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442263.1	NM_002917		6	24	0	0	0	1	0	6	24					C	80007802	T	C	80007802	2	2	168	1	0	0	0	0	0	0	0	1	13252	1451	51	4		4	RFNG	17	80007802	Silent	SNP	T	TCGA-WB-A81N-01A-11D-A35I-08	46317786	80007802	1187408	9	2967										
CSF2RA	1438	broad.mit.edu	37	chrX	1407669	1407669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	caggaagggagggtaccgctGctcagaatttctcctgtttc	12	10	2	1			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:1407669G>T	ENST00000381524.3	+	6	547	c.361G>T	c.(361-363)Gct>Tct	p.A121S	CSF2RA_ENST00000355805.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A121S|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A121S|BX649553.3_ENST00000581137.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	121					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGGTACCGCTGCTCAGAATTT	0.507																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(361-363)Gct>Tct		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						184	194	190					X																	1407669		2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407669G>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.361G>T	X.37:g.1407669G>T	ENSP00000370935:p.Ala121Ser					CSF2RA_ENST00000381509.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000417535.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.A121S|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.A121S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.A121S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.A121S	p.A121S			P15509	CSF2R_HUMAN			6	547	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	121					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.361G>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	13.21	2.168341	0.38315	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	2.19	2.19	0.27852	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.316889	0.20285	U	0.095376	T	0.65913	0.2737	.	.	.	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.99;0.994;0.998;0.999	D;D;P;D;D;D	0.76575	0.988;0.975;0.882;0.916;0.937;0.984	T	0.52555	-0.8560	9	0.66056	D	0.02	.	7.5519	0.27802	0.0:0.0:1.0:0.0	.	121;121;121;121;121;121	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	S	121	ENSP00000370940:A121S;ENSP00000416437:A121S;ENSP00000354836:A121S;ENSP00000370935:A121S;ENSP00000410667:A121S;ENSP00000397452:A121S;ENSP00000370920:A121S;ENSP00000348058:A121S;ENSP00000347606:A121S;ENSP00000394227:A121S;ENSP00000370911:A121S	ENSP00000347606:A121S	A	+	1	0	CSF2RA	1367669	0.119000	0.22226	0.003000	0.11579	0.008000	0.06430	1.962000	0.40442	1.164000	0.42652	0.280000	0.19369	GCT		0.507	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			61	111	1	0	1.1794e-34	1	1.34789e-34	61	111					T	1407669	G	T	1407669	3	4	168	1	0	0	0	0	1	0	0	0	3934	1319	46	5	375	5	CSF2RA	23	1407669	Missense_Mutation	SNP	G	TCGA-WB-A81N-01A-11D-A35I-08		1407669	153862891	10	2968										
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													0	0	1	0	NA	0	1	1	0	ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	6						4	6	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	168	1	0	1	0	1	0	0	0	0	10727	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-WB-A81N-01A-11D-A35I-08	49831627	51239296	104031264	11	2969										
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	24	0	0	0	1	0	3	24					T	66765161	A	T	66765161	3	4	168	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-WB-A81N-01A-11D-A35I-08	15525865	66765161	88505399	12	2970										
TKTL1	8277	broad.mit.edu	37	chrX	153557888	153557888	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ggcatcggggaagctgtctgCgcagccgtctccatggatcc	14	13	2	0			TCGA-WB-A81N-01A-11D-A35I-08	TCGA-WB-A81N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8ddf9bf-595c-4757-b485-a145e46b82d6	6f401361-0bfe-4124-95a4-f4f879767977	g.chrX:153557888C>T	ENST00000369915.3	+	13	1830	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	TKTL1_ENST00000217905.7_Silent_p.C287C|TKTL1_ENST00000369912.2_Silent_p.C491C	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	547					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCTGTCTGCGCAGCCGTCT	0.542													t|||	1	0.000264901	0	0	3775	,	,		14795	0.001		0	False		,,,				2504	0					ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(1639-1641)tgC>tgT		transketolase-like 1							124	114	118					X																	153557888		2203	4300	6503	SO:0001819	synonymous_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153557888C>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1641C>T	X.37:g.153557888C>T						TKTL1_ENST00000217905.7_Silent_p.C287C|TKTL1_ENST00000369912.2_Silent_p.C491C	p.C547C	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			13	1830	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		547					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	c.1641C>T	CCDS35448.1																																																																																				0.542	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		19	89	0	0	0	1	0	19	89					T	153557888	C	T	153557888	2	4	168	1	0	0	0	0	0	0	0	1	15932	776	27	1		1	TKTL1	23	153557888	Silent	SNP	C	TCGA-WB-A81N-01A-11D-A35I-08	86792727	153557888	1712672	13	2971										
CTH	1491	broad.mit.edu	37	chr1	70904459	70904459	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.04	1	1	0.5625	4.5	0	1	1	0	ttcgactttctgtgggcttaGaggatgaggaagacctactg	13	7	1	3			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr1:70904459G>C	ENST00000370938.3	+	11	1285	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	CTH_ENST00000411986.2_Missense_Mutation_p.E349Q|CTH_ENST00000346806.2_Missense_Mutation_p.E337Q	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGGGCTTAGAGGATGAGGA	0.428																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1045-1047)Gag>Cag		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						159	146	151					1																	70904459		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70904459G>C	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"cystathionase (cystathionine gamma-lyase)"			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1141G>C	1.37:g.70904459G>C	ENSP00000359976:p.Glu381Gln					CTH_ENST00000346806.2_Missense_Mutation_p.E337Q|CTH_ENST00000370938.3_Missense_Mutation_p.E381Q	p.E349Q	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			10	1243	+			381					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.1045G>C	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124097	0.94429	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.93488	-3.23;-3.23;-3.23	5.6	5.6	0.85130	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	H	0.98446	4.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99232	1.0882	10	0.87932	D	0	-6.8923	19.665	0.95890	0.0:0.0:1.0:0.0	.	349;337;381	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	Q	349;381;337	ENSP00000413407:E349Q;ENSP00000359976:E381Q;ENSP00000311554:E337Q	ENSP00000311554:E337Q	E	+	1	0	CTH	70677047	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.192000	0.94947	2.828000	0.97474	0.650000	0.86243	GAG		0.428	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		28	14	0	0	0	1	0	28	14					C	70904459	G	C	70904459	3	2	169	1	0	0	0	0	1	0	0	0	4009	943	33	5	1183	5	CTH	1	70904459	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		70904459	178346162	1	2972										
SPHKAP	80309	broad.mit.edu	37	chr2	228883997	228883997	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	ccctgggggaaagttcgagaCcacttgctccattttgagtc	11	11	0	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr2:228883997C>A	ENST00000392056.3	-	7	1619	c.1573G>T	c.(1573-1575)Gtc>Ttc	p.V525F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	525						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTTCGAGACCACTTGCTCC	0.507																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1573-1575)Gtc>Ttc		SPHK1 interactor, AKAP domain containing							62	55	57					2																	228883997		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883997C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1573G>T	2.37:g.228883997C>A	ENSP00000375909:p.Val525Phe					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V525F	p.V525F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1619	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	525					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1573G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324897	0.24080	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.47869	0.83;0.83	6.03	5.15	0.70609	.	0.665289	0.15267	N	0.271469	T	0.48077	0.1480	M	0.63428	1.95	0.09310	N	1	B;P	0.36282	0.437;0.546	B;B	0.35073	0.099;0.195	T	0.46386	-0.9195	10	0.54805	T	0.06	.	14.4043	0.67071	0.0:0.9298:0.0:0.0702	.	525;525	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	525	ENSP00000375909:V525F;ENSP00000339886:V525F	ENSP00000339886:V525F	V	-	1	0	SPHKAP	228592241	0.000000	0.05858	0.613000	0.29037	0.164000	0.22412	-0.318000	0.08050	1.558000	0.49541	0.655000	0.94253	GTC		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		3	51	1	0	0.00024832	1	0.00025608	3	51					A	228883997	C	A	228883997	3	1	169	1	0	0	0	0	1	0	0	0	15047	507	18	5	3553	5	SPHKAP	2	228883997	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		228883997	14315376	2	2973										
PRICKLE2	166336	broad.mit.edu	37	chr3	64184482	64184482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	gttcaggcttcagacccggcGggacccaggcatactcttcc	11	15	3	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:64184482G>A	ENST00000295902.6	-	2	707	c.122C>T	c.(121-123)cCg>cTg	p.P41L	PRICKLE2-AS3_ENST00000473434.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P97L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	41	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CAGACCCGGCGGGACCCAGGC	0.512																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(121-123)cCg>cTg		prickle homolog 2 (Drosophila)							130	100	110					3																	64184482		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64184482G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.122C>T	3.37:g.64184482G>A	ENSP00000295902:p.Pro41Leu					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P97L|PRICKLE2-AS3_ENST00000473434.1_RNA	p.P41L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	2	707	-		Lung NSC(201;0.136)	41			PET.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.122C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299956	0.95574	.	.	ENSG00000163637	ENST00000295902;ENST00000498162	D;D	0.96232	-3.95;-3.95	5.69	5.69	0.88448	PET domain (2);	0.000000	0.64402	D	0.000002	D	0.98469	0.9490	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99146	1.0857	10	0.87932	D	0	-33.7783	19.8075	0.96536	0.0:0.0:1.0:0.0	.	41	Q7Z3G6	PRIC2_HUMAN	L	41	ENSP00000295902:P41L;ENSP00000419951:P41L	ENSP00000295902:P41L	P	-	2	0	PRICKLE2	64159522	1.000000	0.71417	0.973000	0.42090	0.763000	0.43281	9.805000	0.99149	2.670000	0.90874	0.650000	0.86243	CCG		0.512	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		18	39	0	0	0	1	0	18	39					A	64184482	G	A	64184482	3	1	169	1	0	0	0	0	1	0	0	0	12487	1116	39	2	2440	2	PRICKLE2	3	64184482	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		64184482	133837948	3	2974										
ATR	545	broad.mit.edu	37	chr3	142281438	142281438	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	attccaaaaatgagctgaaaAaagtgctagctggttgtgct	10	6	0	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr3:142281438A>G	ENST00000350721.4	-	4	927	c.806T>C	c.(805-807)tTt>tCt	p.F269S	ATR_ENST00000383101.3_Missense_Mutation_p.F269S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	269					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAGCTGAAAAAAGTGCTAGC	0.358								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(805-807)tTt>tCt	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							64	68	66					3																	142281438		2203	4299	6502	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281438A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.806T>C	3.37:g.142281438A>G	ENSP00000343741:p.Phe269Ser					ATR_ENST00000383101.3_Missense_Mutation_p.F269S	p.F269S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			4	927	-			269					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.806T>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.880760	0.51801	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.67345	-0.26;-0.2	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	L	0.32530	0.975	0.33893	D	0.637635	D	0.76494	0.999	D	0.80764	0.994	T	0.82508	-0.0422	10	0.87932	D	0	-21.7403	15.7097	0.77615	1.0:0.0:0.0:0.0	.	269	Q13535	ATR_HUMAN	S	269	ENSP00000343741:F269S;ENSP00000372581:F269S	ENSP00000343741:F269S	F	-	2	0	ATR	143764128	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.865000	0.75500	2.113000	0.64589	0.482000	0.46254	TTT		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		23	44	0	0	0	1	0	23	44					G	142281438	A	G	142281438	3	3	169	1	0	0	0	0	1	0	0	0	1204	14	1	4	7304	4	ATR	3	142281438	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08	78096956	142281438	55740992	4	2975										
PCDHA5	56143	broad.mit.edu	37	chr5	140202503	140202503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	gaccgtgactcaggtgccaaCgggcaggtgacctgctccct	13	14	1	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr5:140202503C>A	ENST00000529859.1	+	1	1143	c.1143C>A	c.(1141-1143)aaC>aaA	p.N381K	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	381	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.577																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1141-1143)aaC>aaA									121	109	113					5																	140202503		2203	4300	6503	SO:0001583	missense	56143							g.chr5:140202503C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1143C>A	5.37:g.140202503C>A	ENSP00000436557:p.Asn381Lys					PCDHA5_ENST00000378126.3_Missense_Mutation_p.N381K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.N381K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.N381K	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1143	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1143C>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980793	0.18812	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59906	0.23;0.23;0.23	3.84	-7.68	0.01268	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81133	0.4759	H	0.96080	3.765	0.22096	N	0.999368	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.988	T	0.81017	-0.1123	9	0.87932	D	0	.	16.9361	0.86203	0.0:0.6325:0.0:0.3675	.	381;381;381	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	381	ENSP00000433416:N381K;ENSP00000436557:N381K;ENSP00000367366:N381K	ENSP00000367366:N381K	N	+	3	2	PCDHA5	140182687	0.000000	0.05858	0.019000	0.16419	0.174000	0.22865	-3.126000	0.00593	-2.197000	0.00750	-1.008000	0.02478	AAC		0.577	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	93	1	0	2.56e-06	1	2.72516e-06	4	93					A	140202503	C	A	140202503	3	1	169	1	0	0	0	0	1	0	0	0	11527	535	19	5	1145	5	PCDHA5	5	140202503	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		140202503	40712757	5	2976										
TRRAP	8295	broad.mit.edu	37	chr7	98586584	98586584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	gcaaatcgaggaaatacttaGccaaggtgagaccgaaaaaa	10	7	0	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr7:98586584G>A	ENST00000359863.4	+	62	9807	c.9598G>A	c.(9598-9600)Gcc>Acc	p.A3200T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3200	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAATACTTAGCCAAGGTGAG	0.522																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(9598-9600)Gcc>Acc		transformation/transcription domain-associated protein							36	37	36					7																	98586584		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98586584G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9598G>A	7.37:g.98586584G>A	ENSP00000352925:p.Ala3200Thr					TRRAP_ENST00000446306.3_Missense_Mutation_p.A3171T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3171T	p.A3200T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		62	9807	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3200			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9598G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462778	0.96257	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.69685	-0.42;-0.42	5.32	5.32	0.75619	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84540	0.0638	10	0.54805	T	0.06	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	3171;2910;3200	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	3200;3171;3170	ENSP00000352925:A3200T;ENSP00000347733:A3171T	ENSP00000347733:A3171T	A	+	1	0	TRRAP	98424520	1.000000	0.71417	0.963000	0.40424	0.873000	0.50193	9.758000	0.98927	2.489000	0.83994	0.655000	0.94253	GCC		0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	13	0	0	0	1	0	4	13					A	98586584	G	A	98586584	3	1	169	1	0	0	0	0	1	0	0	0	16598	971	34	3	9749	3	TRRAP	7	98586584	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		98586584	60552079	6	2977										
EHMT1	79813	broad.mit.edu	37	chr9	140693307	140693307	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	tgcacctggctgccaagaaaGgccactacgaagtggtccag	12	12	0	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr9:140693307G>C	ENST00000460843.1	+	17	2575	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	850					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCCAAGAAAGGCCACTACGA	0.532																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2548-2550)Ggc>Cgc		euchromatic histone-lysine N-methyltransferase 1							198	165	176					9																	140693307		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140693307G>C	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2548G>C	9.37:g.140693307G>C	ENSP00000417980:p.Gly850Arg						p.G850R	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	17	2575	+	all_cancers(76;0.164)		850					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2548G>C	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	30	5.056876	0.93846	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.73258	-0.73	5.61	5.61	0.85477	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85948	0.1462	10	0.87932	D	0	.	19.6207	0.95654	0.0:0.0:1.0:0.0	.	850	Q9H9B1	EHMT1_HUMAN	R	819;850	ENSP00000417980:G850R	ENSP00000360453:G819R	G	+	1	0	EHMT1	139813128	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.170000	0.94795	2.646000	0.89796	0.561000	0.74099	GGC		0.532	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		18	41	0	0	0	1	0	18	41					C	140693307	G	C	140693307	3	2	169	1	0	0	0	0	1	0	0	0	4983	1000	35	5	2663	5	EHMT1	9	140693307	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		140693307	520124	7	2978										
IL15RA	3601	broad.mit.edu	37	chr10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	catctctgctgctggtccccCaagtcaccggcagagcctcc	9	18	2	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr10:5995110C>A	ENST00000379977.3	-	7	849	c.752G>T	c.(751-753)tGg>tTg	p.W251L	IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000525219.2_Missense_Mutation_p.W215L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	251					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557																																						ENST00000525219.2																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(643-645)tGg>tTg		interleukin 15 receptor, alpha							81	81	81					10																	5995110		2203	4300	6503	SO:0001583	missense	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:5995110C>A	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"Interleukins and interleukin receptors", "CD molecules"	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.752G>T	10.37:g.5995110C>A	ENSP00000369312:p.Trp251Leu					IL15RA_ENST00000379977.3_Missense_Mutation_p.W251L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L	p.W215L	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN			7	938	-			251					B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	c.644G>T	CCDS7074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.414|6.414	0.444477|0.444477	0.12164|0.12164	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000532039|ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250	.|T;T;T;T;T	.|0.40225	.|1.04;1.05;1.06;2.04;1.04	3.4|3.4	1.4|1.4	0.22301|0.22301	.|.	.|0.556218	.|0.14484	.|N	.|0.316770	T|T	0.18882|0.18882	0.0453|0.0453	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	.|0.01281	.|0.0;0.0	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.23891	.|T	.|0.37	-24.3979|-24.3979	5.6406|5.6406	0.17562|0.17562	0.2388:0.5506:0.2106:0.0|0.2388:0.5506:0.2106:0.0	.|.	.|218;251	.|Q13261-3;Q13261	.|.;I15RA_HUMAN	W|L	193|186;251;215;215;218;153	.|ENSP00000380423:W186L;ENSP00000369312:W251L;ENSP00000380421:W215L;ENSP00000435454:W218L;ENSP00000380422:W153L	.|ENSP00000322245:W215L	G|W	-|-	1|2	0|0	IL15RA|IL15RA	6035116|6035116	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.285000|-0.285000	0.08410|0.08410	0.373000|0.373000	0.24621|0.24621	0.313000|0.313000	0.20887|0.20887	GGG|TGG		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189		6	64	1	0	0.00116845	1	0.00116845	6	64					A	5995110	C	A	5995110	3	1	169	1	0	0	0	0	1	0	0	0	7632	595	21	5	55	5	IL15RA	10	5995110	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		5995110	129539637	8	2979										
ASRGL1	80150	broad.mit.edu	37	chr11	62124546	62124546	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	ttcctggagaaaaactggtgAcagagagaaacaaaaagcgc	11	7	0	4			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr11:62124546A>G	ENST00000415229.2	+	4	636	c.421A>G	c.(421-423)Aca>Gca	p.T141A	ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A|ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	141					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAAACTGGTGACAGAGAGAAA	0.463																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(421-423)Aca>Gca		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						62	71	68					11																	62124546		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62124546A>G		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.421A>G	11.37:g.62124546A>G	ENSP00000400057:p.Thr141Ala					ASRGL1_ENST00000535727.1_Missense_Mutation_p.T13A|ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.T141A	p.T141A	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			4	636	+			141					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.421A>G	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	a	17.94	3.512034	0.64522	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.89270	-2.49;-2.49;-2.49	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.94384	0.8194	M	0.91920	3.255	0.58432	D	0.999991	P	0.45474	0.859	P	0.54706	0.759	D	0.95271	0.8377	10	0.87932	D	0	-25.4919	14.1149	0.65146	1.0:0.0:0.0:0.0	.	141	Q7L266	ASGL1_HUMAN	A	141;13;141	ENSP00000400057:T141A;ENSP00000443284:T13A;ENSP00000301776:T141A	ENSP00000301776:T141A	T	+	1	0	ASRGL1	61881122	1.000000	0.71417	0.346000	0.25655	0.228000	0.25075	4.826000	0.62715	2.221000	0.72209	0.451000	0.29950	ACA		0.463	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		20	26	0	0	0	1	0	20	26					G	62124546	A	G	62124546	3	3	169	1	0	0	0	0	1	0	0	0	1060	275	10	4	431	4	ASRGL1	11	62124546	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08		62124546	72881970	9	2980										
CASC4	113201	broad.mit.edu	37	chr15	44673018	44673018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	ccacagattcacacataaacCacaatggaaaccccggtact	5	14	1	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:44673018C>T	ENST00000345795.2	+	8	1186	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.H306Y	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	306						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACACATAAACCACAATGGAAA	0.343																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(916-918)Cac>Tac		cancer susceptibility candidate 4							57	55	55					15																	44673018		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44673018C>T	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.916C>T	15.37:g.44673018C>T	ENSP00000335063:p.His306Tyr					CASC4_ENST00000345795.2_Missense_Mutation_p.H306Y|CASC4_ENST00000360824.3_3'UTR	p.H306Y	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	8	1215	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	306					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.916C>T	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714398	0.48622	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.77	3.85	0.44370	.	0.688231	0.14718	N	0.302496	T	0.44644	0.1303	L	0.36672	1.1	0.80722	D	1	D;B;P	0.53745	0.962;0.256;0.71	P;B;B	0.45681	0.49;0.187;0.251	T	0.42531	-0.9446	9	0.56958	D	0.05	.	7.9478	0.29998	0.0:0.8899:0.0:0.1101	.	306;306;306	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	Y	306;306;285	.	ENSP00000299957:H306Y	H	+	1	0	CASC4	42460310	1.000000	0.71417	0.975000	0.42487	0.774000	0.43823	1.810000	0.38932	2.190000	0.69967	0.484000	0.47621	CAC		0.343	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		20	24	0	0	0	1	0	20	24					T	44673018	C	T	44673018	3	4	169	1	0	0	0	0	1	0	0	0	2662	594	21	3	946	3	CASC4	15	44673018	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		44673018	57858374	10	2981										
SEMA7A	8482	broad.mit.edu	37	chr15	74706922	74706922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	agcacatgaaaggtctccccGtggctggcttgcatgcggtg	14	11	1	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr15:74706922G>A	ENST00000261918.4	-	10	1808	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	SEMA7A_ENST00000542748.1_Silent_p.H255H|SEMA7A_ENST00000543145.2_Silent_p.H406H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	420	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGGTCTCCCCGTGGCTGGCTT	0.537																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1258-1260)caC>caT		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							109	114	112					15																	74706922		2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74706922G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1260C>T	15.37:g.74706922G>A						SEMA7A_ENST00000543145.2_Silent_p.H406H|SEMA7A_ENST00000542748.1_Silent_p.H255H	p.H420H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			10	1808	-			420			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1260C>T	CCDS10262.1																																																																																				0.537	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		8	134	0	0	0	1	0	8	134					A	74706922	G	A	74706922	2	1	169	1	0	0	0	0	0	0	0	1	14043	1136	40	1		1	SEMA7A	15	74706922	Silent	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	30033904	74706922	27824470	11	2982										
TOX3	27324	broad.mit.edu	37	chr16	52473705	52473705	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	tcatggggagtctcatggttAagggtttgggagcgattgac	16	5	2	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr16:52473705A>T	ENST00000219746.9	-	7	1447	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*	TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	388					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTCATGGTTAAGGGTTTGGG	0.517																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(1162-1164)tTa>tAa		TOX high mobility group box family member 3							305	301	302					16																	52473705		2118	4248	6366	SO:0001587	stop_gained	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473705A>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1163T>A	16.37:g.52473705A>T	ENSP00000219746:p.Leu388*					TOX3_ENST00000407228.3_Nonsense_Mutation_p.L383*	p.L388*	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			7	1447	-			388					B4DRD0|B5MCW4	Nonsense_Mutation	SNP	ENST00000219746.9	37	c.1163T>A	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	A	37	6.366011	0.97507	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.056	0.80805	1.0:0.0:0.0:0.0	.	.	.	.	X	388;383	.	ENSP00000219746:L388X	L	-	2	0	TOX3	51031206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.178000	0.69098	0.533000	0.62120	TTA		0.517	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		9	165	0	0	0	1	0	9	165					T	52473705	A	T	52473705	4	4	169	1	0	0	0	0	0	1	0	0	16376	372	13	5	571	5	TOX3	16	52473705	Nonsense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08		52473705	37881048	12	2983										
LLGL1	3996	broad.mit.edu	37	chr17	18138460	18138460	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	agaggagctggtggtgctggAcctgcagactcctggctggc	17	10	0	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:18138460A>G	ENST00000316843.4	+	10	1214	c.1118A>G	c.(1117-1119)gAc>gGc	p.D373G		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	373					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTGGTGCTGGACCTGCAGACT	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1117-1119)gAc>gGc		lethal giant larvae homolog 1 (Drosophila)							45	44	44					17																	18138460		2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138460A>G		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1118A>G	17.37:g.18138460A>G	ENSP00000321537:p.Asp373Gly						p.D373G	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			10	1214	+	all_neural(463;0.228)		373					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1118A>G	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979217	0.92982	.	.	ENSG00000131899	ENST00000316843	T	0.17054	2.3	5.92	5.92	0.95590	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64067	-0.6494	10	0.72032	D	0.01	-45.1886	15.3822	0.74669	1.0:0.0:0.0:0.0	.	373	Q15334	L2GL1_HUMAN	G	373	ENSP00000321537:D373G	ENSP00000321537:D373G	D	+	2	0	LLGL1	18079185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.238000	0.95380	2.275000	0.75901	0.529000	0.55759	GAC		0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	18	0	0	0	1	0	4	18					G	18138460	A	G	18138460	3	3	169	1	0	0	0	0	1	0	0	0	8833	275	10	4	1156	4	LLGL1	17	18138460	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08		18138460	63056750	13	2984										
NF1	4763	broad.mit.edu	37	chr17	29676174	29676177	+	Frame_Shift_Del	DEL	CAGT	CAGT	-													0.04	1	1	0.5625	4.5	0	1	1	0	acctgctattgttgcaagaaCagtcagaattttacatacac							TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:29676174_29676177delCAGT	ENST00000358273.4	+	49	7609_7612	c.7226_7229delCAGT	c.(7225-7230)acagtcfs	p.TV2409fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2409					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTGCAAGAACAGTCAGAATTTTA	0.353			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(8)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7225-7230)acfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29676174_29676177delCAGT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7226_7229delCAGT	17.37:g.29676174_29676177delCAGT	ENSP00000351015:p.Thr2409fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Frame_Shift_Del_p.TV202fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.TV122fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TV2388fs	p.TV2409fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	49	7609_7612	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2409					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.7226_7229delCAGT	CCDS42292.1																																																																																				0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	2						7	2	---	---	---	---	-	29676177	CAGT	-	29676174	7	5	169	1	0	1	0	1	0	0	0	0	10356	478	17	0	7481	0	NF1	17	29676174	Frame_Shift_Del	DEL	CAGT	TCGA-WB-A81P-01A-11D-A35I-08	11537714	29676174	51519036	14	2985										
DNAH17	8632	broad.mit.edu	37	chr17	76510973	76510973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	gtgttgtcgagccccacgaaGgcatcccaggttttcatctc	10	13	2	0			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr17:76510973G>A	ENST00000585328.1	-	26	4111	c.3987C>T	c.(3985-3987)gcC>gcT	p.A1329A	DNAH17_ENST00000389840.5_Silent_p.A1328A	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1328	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCCACGAAGGCATCCCAGG	0.532																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(3982-3984)gcC>gcT		dynein, axonemal, heavy chain 17							170	173	172					17																	76510973		2122	4242	6364	SO:0001819	synonymous_variant	8632							g.chr17:76510973G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3987C>T	17.37:g.76510973G>A						DNAH17_ENST00000585328.1_Silent_p.A1329A	p.A1328A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4108	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.3984C>T																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	93	0	0	0	1	0	8	93					A	76510973	G	A	76510973	2	1	169	1	0	0	0	0	0	0	0	1	4601	987	35	3		3	DNAH17	17	76510973	Silent	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	46834799	76510973	4684237	15	2986										
SETBP1	26040	broad.mit.edu	37	chr18	42531452	42531452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	gggcaagcagattaatgtcaGcaagaggggaaccatctaca	12	8	2	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:42531452G>A	ENST00000282030.5	+	4	2443	c.2147G>A	c.(2146-2148)aGc>aAc	p.S716N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	716						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTAATGTCAGCAAGAGGGGA	0.567									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2146-2148)aGc>aAc		SET binding protein 1							41	43	43					18																	42531452		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531452G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2147G>A	18.37:g.42531452G>A	ENSP00000282030:p.Ser716Asn						p.S716N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2443	+			716					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2147G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374903	0.61735	.	.	ENSG00000152217	ENST00000282030	D	0.91295	-2.82	6.17	5.3	0.74995	.	0.093992	0.64402	D	0.000001	D	0.91925	0.7443	L	0.59436	1.845	0.40656	D	0.982084	D	0.55800	0.973	P	0.51657	0.676	D	0.93014	0.6434	10	0.87932	D	0	.	15.4602	0.75349	0.066:0.0:0.934:0.0	.	716	Q9Y6X0	SETBP_HUMAN	N	716	ENSP00000282030:S716N	ENSP00000282030:S716N	S	+	2	0	SETBP1	40785450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	1.616000	0.50265	0.655000	0.94253	AGC		0.567	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		3	29	0	0	0	1	0	3	29					A	42531452	G	A	42531452	3	1	169	1	0	0	0	0	1	0	0	0	14129	971	34	3	2350	3	SETBP1	18	42531452	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		42531452	35545796	16	2987										
MALT1	10892	broad.mit.edu	37	chr18	56411728	56411728	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	acgttactgattttccacttGtgagtctcttcttttattta	5	8	2	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:56411728G>A	ENST00000348428.3	+	15	2169		c.e15+1		RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Splice_Site	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1						activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TTTTCCACTTGTGAGTCTCTT	0.289			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.e15+1		mucosa associated lymphoid tissue lymphoma translocation gene 1							110	108	109					18																	56411728		2203	4300	6503	SO:0001630	splice_region_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56411728G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1911+1G>A	18.37:g.56411728G>A						MALT1_ENST00000345724.3_Splice_Site|RP11-126O1.4_ENST00000588835.1_RNA		NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			15	2169	+								Q9NTB7|Q9ULX4	Splice_Site	SNP	ENST00000348428.3	37		CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351283	0.61183	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MALT1	54562708	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	5.295000	0.65692	2.456000	0.83038	0.591000	0.81541	.		0.289	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		Intron	17	42	0	0	0	1	0	17	42					A	56411728	G	A	56411728	5	1	169	1	0	0	0	0	0	0	1	0	9202	1391	48	3	1970	3	MALT1	18	56411728	Splice_Site	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	13880276	56411728	21665520	17	2988										
KDSR	2531	broad.mit.edu	37	chr18	61018282	61018282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	cacggcccggctggggtacaCgctgcccaggtaattgatgc	14	13	0	1			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr18:61018282C>T	ENST00000406396.3	-	6	839	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	150					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CTGGGGTACACGCTGCCCAGG	0.547																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(448-450)Gtg>Atg		3-ketodihydrosphingosine reductase							72	71	71					18																	61018282		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018282C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.448G>A	18.37:g.61018282C>T	ENSP00000385083:p.Val150Met					KDSR_ENST00000326575.5_Intron	p.V150M	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	839	-			150					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.448G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362932	0.95877	.	.	ENSG00000119537	ENST00000406396	D	0.90069	-2.61	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91362	0.5112	10	0.35671	T	0.21	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	150	Q06136	KDSR_HUMAN	M	150	ENSP00000385083:V150M	ENSP00000385083:V150M	V	-	1	0	KDSR	59169262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GTG		0.547	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			4	74	0	0	0	1	0	4	74					T	61018282	C	T	61018282	3	4	169	1	0	0	0	0	1	0	0	0	8140	536	19	1	570	1	KDSR	18	61018282	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08	4606554	61018282	17058966	18	2989										
NOTCH3	4854	broad.mit.edu	37	chr19	15290911	15290911	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	tgtagccccccatatagccaCggcaggtccccccatgctgg	10	17	0	0	rs189545202		TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:15290911C>T	ENST00000263388.2	-	20	3374	c.3299G>A	c.(3298-3300)cGt>cAt	p.R1100H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1100	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATATAGCCACGGCAGGTCCC	0.642													C|||	1	0.000199681	0	0	5008	,	,		16690	0.001		0	False		,,,				2504	0					ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(3298-3300)cGt>cAt		notch 3		C	HIS/ARG	0,4406		0,0,2203	44	43	44		3299	3	0.8	19		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOTCH3	NM_000435.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1100/2322	15290911	1,13005	2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15290911C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3299G>A	19.37:g.15290911C>T	ENSP00000263388:p.Arg1100His						p.R1100H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		20	3374	-			1100			EGF-like 28.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.3299G>A	CCDS12326.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.15	2.450343	0.43531	0.0	1.16E-4	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87729	-2.29	5.08	2.95	0.34219	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.740081	0.10694	N	0.644799	T	0.77485	0.4137	N	0.20357	0.565	0.49483	D	0.999792	B;B	0.21452	0.043;0.056	B;B	0.20955	0.012;0.032	T	0.66508	-0.5906	10	0.39692	T	0.17	.	8.2052	0.31452	0.0:0.7493:0.0:0.2507	.	1051;1100	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	1100;1050	ENSP00000263388:R1100H	ENSP00000263388:R1100H	R	-	2	0	NOTCH3	15151911	0.000000	0.05858	0.775000	0.31657	0.991000	0.79684	-0.672000	0.05244	0.547000	0.28938	0.655000	0.94253	CGT		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		11	26	0	0	0	1	0	11	26					T	15290911	C	T	15290911	3	4	169	1	0	0	0	0	1	0	0	0	10550	536	19	1	3722	1	NOTCH3	19	15290911	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08		15290911	43838072	19	2990										
ZNF507	22847	broad.mit.edu	37	chr19	32843786	32843786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	ggtgccagatattggggaacAggaagctatactgactgctg	14	7	0	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:32843786A>G	ENST00000311921.4	+	2	242	c.50A>G	c.(49-51)cAg>cGg	p.Q17R	ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATTGGGGAACAGGAAGCTATA	0.358																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(49-51)cAg>cGg		zinc finger protein 507							93	92	92					19																	32843786		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32843786A>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.50A>G	19.37:g.32843786A>G	ENSP00000312277:p.Gln17Arg					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.Q17R|ZNF507_ENST00000355898.5_Missense_Mutation_p.Q17R	p.Q17R	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	242	+	Esophageal squamous(110;0.162)		17					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.50A>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100557	0.37048	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.08370	3.41;3.41;3.1	5.5	4.48	0.54585	.	0.405610	0.28156	N	0.016394	T	0.11836	0.0288	L	0.55481	1.735	0.30303	N	0.789277	P;P	0.45827	0.671;0.867	B;B	0.44044	0.188;0.439	T	0.02654	-1.1128	10	0.51188	T	0.08	-9.0046	11.2739	0.49155	0.71:0.29:0.0:0.0	.	17;17	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	R	17	ENSP00000348162:Q17R;ENSP00000312277:Q17R;ENSP00000441549:Q17R	ENSP00000312277:Q17R	Q	+	2	0	ZNF507	37535626	1.000000	0.71417	0.982000	0.44146	0.949000	0.60115	4.473000	0.60196	0.985000	0.38656	0.402000	0.26972	CAG		0.358	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		23	49	0	0	0	1	0	23	49					G	32843786	A	G	32843786	3	3	169	1	0	0	0	0	1	0	0	0	17950	188	7	4	52	4	ZNF507	19	32843786	Missense_Mutation	SNP	A	TCGA-WB-A81P-01A-11D-A35I-08	17552875	32843786	26285197	20	2991										
MARK4	57787	broad.mit.edu	37	chr19	45797661	45797661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	acacctacgtttgcacagaaCgcccgggggctgagcgcccg	13	15	0	2	rs372480258		TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:45797661C>T	ENST00000262891.4	+	14	1880	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	MARK4_ENST00000300843.4_Missense_Mutation_p.R517C	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	517					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGCACAGAACGCCCGGGGGC	0.592																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1549-1551)Cgc>Tgc		MAP/microtubule affinity-regulating kinase 4		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67	53	57		1549,1549	4.5	1	19		57	0,8600		0,0,4300	no	missense,missense	MARK4	NM_001199867.1,NM_031417.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	517/753,517/689	45797661	1,13005	2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45797661C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1549C>T	19.37:g.45797661C>T	ENSP00000262891:p.Arg517Cys					MARK4_ENST00000262891.4_Missense_Mutation_p.R517C	p.R517C	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	14	1846	+		all_neural(266;0.224)|Ovarian(192;0.231)	517					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1549C>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140436	0.77775	2.27E-4	0.0	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.50001	0.76;0.76	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.72707	-0.4212	10	0.87932	D	0	.	14.6711	0.68945	0.0:1.0:0.0:0.0	.	517;517	Q96L34;Q96L34-2	MARK4_HUMAN;.	C	517	ENSP00000262891:R517C;ENSP00000300843:R517C	ENSP00000262891:R517C	R	+	1	0	MARK4	50489501	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	3.752000	0.55172	2.313000	0.78055	0.655000	0.94253	CGC		0.592	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		26	38	0	0	0	1	0	26	38					T	45797661	C	T	45797661	3	4	169	1	0	0	0	0	1	0	0	0	9315	536	19	1	1603	1	MARK4	19	45797661	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08	12953875	45797661	13331322	21	2992										
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	tgggccctgtgagcccctccCacgggggccagtacagatgc	14	15	0	2	rs532565720	byFrequency	TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0	0.0014	5008	,	,		16291	0		0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	11027							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			3	60	0	0	0	1	0	3	60					T	55086932	C	T	55086932	3	4	169	1	0	0	0	0	1	0	0	0	8785	594	21	3	883	3	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-WB-A81P-01A-11D-A35I-08	9289271	55086932	4042051	22	2993										
CEP250	11190	broad.mit.edu	37	chr20	34099388	34099388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	ggatgagtccctgactcaaaGtctgacatccccagggccag	11	13	2	3			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:34099388G>A	ENST00000397527.1	+	35	7982	c.7262G>A	c.(7261-7263)aGt>aAt	p.S2421N	CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2421					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGACTCAAAGTCTGACATCC	0.632																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(7261-7263)aGt>aAt		centrosomal protein 250kDa							50	50	50					20																	34099388		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099388G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7262G>A	20.37:g.34099388G>A	ENSP00000380661:p.Ser2421Asn					CEP250_ENST00000342580.4_Missense_Mutation_p.S2365N	p.S2421N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		35	7982	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2421					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.7262G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690610	0.68271	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.61274	2.33;2.29;0.12	4.75	3.77	0.43336	.	0.101189	0.43919	D	0.000512	T	0.71921	0.3397	M	0.75447	2.3	0.27215	N	0.959806	D	0.71674	0.998	D	0.80764	0.994	T	0.63435	-0.6638	10	0.72032	D	0.01	.	10.0132	0.41999	0.08:0.1386:0.7814:0.0	.	2421	Q9BV73	CP250_HUMAN	N	2421;2365;856	ENSP00000380661:S2421N;ENSP00000341541:S2365N;ENSP00000395992:S856N	ENSP00000341541:S2365N	S	+	2	0	CEP250	33562802	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.935000	0.40173	2.478000	0.83669	0.561000	0.74099	AGT		0.632	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		13	17	0	0	0	1	0	13	17					A	34099388	G	A	34099388	3	1	169	1	0	0	0	0	1	0	0	0	3252	1029	36	3	7388	3	CEP250	20	34099388	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		34099388	28926132	23	2994										
ATP9A	10079	broad.mit.edu	37	chr20	50329586	50329586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	gatctcctccaccgcctcacGgatgacagtgacggccagca	10	16	2	2			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr20:50329586G>A	ENST00000338821.5	-	4	619	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	119					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCGCCTCACGGATGACAGTG	0.622																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(355-357)Cgt>Tgt		ATPase, class II, type 9A							88	60	69					20																	50329586		2203	4299	6502	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50329586G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.355C>T	20.37:g.50329586G>A	ENSP00000342481:p.Arg119Cys					ATP9A_ENST00000402822.1_Missense_Mutation_p.R119C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R104C	p.R119C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			4	619	-			119					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.355C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358727	0.82243	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.77620	-1.11;-1.11;-1.11	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.118282	0.56097	D	0.000022	D	0.89588	0.6758	M	0.86502	2.82	0.42362	D	0.992419	D;D	0.76494	0.991;0.999	P;D	0.76575	0.727;0.988	D	0.91827	0.5472	10	0.72032	D	0.01	-7.5447	17.8464	0.88731	0.0:0.0:1.0:0.0	.	119;119	O75110-2;O75110	.;ATP9A_HUMAN	C	104;119;119	ENSP00000309086:R104C;ENSP00000342481:R119C;ENSP00000385875:R119C	ENSP00000309086:R104C	R	-	1	0	ATP9A	49762993	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	3.500000	0.53318	2.216000	0.71823	0.557000	0.71058	CGT		0.622	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		3	22	0	0	0	1	0	3	22					A	50329586	G	A	50329586	3	1	169	1	0	0	0	0	1	0	0	0	1198	1116	39	2	2888	2	ATP9A	20	50329586	Missense_Mutation	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08	16230198	50329586	12695934	24	2995										
IGLL1	3543	broad.mit.edu	37	chr22	23915576	23915576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.04	1	1	0.5625	4.5	0	1	1	0	ctcaggtagctgctggccgcGtacttgttgttgctctgttt	12	10	2	0			TCGA-WB-A81P-01A-11D-A35I-08	TCGA-WB-A81P-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fc35de1-c685-4ea7-93ad-92682846fe6b	e3258538-5df4-42fa-aee4-af0333bd1f08	g.chr22:23915576G>A	ENST00000330377.2	-	3	636	c.519C>T	c.(517-519)taC>taT	p.Y173Y	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	173	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						TGCTGGCCGCGTACTTGTTGT	0.607																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(517-519)taC>taT		immunoglobulin lambda-like polypeptide 1							115	102	106					22																	23915576		2203	4300	6503	SO:0001819	synonymous_variant	3543				immune response	extracellular region|membrane		g.chr22:23915576G>A	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.519C>T	22.37:g.23915576G>A						AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_3'UTR	p.Y173Y	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			3	636	-			173			C region (By similarity to lambda light- chain).|Ig-like C1-type.		Q0P681	Silent	SNP	ENST00000330377.2	37	c.519C>T	CCDS13809.1																																																																																				0.607	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		26	56	0	0	0	1	0	26	56					A	23915576	G	A	23915576	2	1	169	1	0	0	0	0	0	0	0	1	7593	1140	40	1		1	IGLL1	22	23915576	Silent	SNP	G	TCGA-WB-A81P-01A-11D-A35I-08		23915576	27388990	25	2996										
ARHGEF19	128272	broad.mit.edu	37	chr1	16532568	16532568	+	Frame_Shift_Del	DEL	C	C	-													0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	ctccagccgctgctccaggtCctgcaggaacctgaggagtc							TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:16532568delC	ENST00000270747.3	-	8	1445	c.1309delG	c.(1309-1311)gacfs	p.D437fs	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	437	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTCCTGCAGGAAC	0.657																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1309-1311)acfs		Rho guanine nucleotide exchange factor (GEF) 19							23	23	23					1																	16532568		2199	4296	6495	SO:0001589	frameshift_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532568delC	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1309delG	1.37:g.16532568delC	ENSP00000270747:p.Asp437fs					ARHGEF19_ENST00000421561.1_Frame_Shift_Del_p.D437fs|ARHGEF19_ENST00000478117.1_5'UTR	p.D437fs	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	8	1445	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	437			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Frame_Shift_Del	DEL	ENST00000270747.3	37	c.1309delG	CCDS170.1																																																																																				0.657	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		2	4						2	4	---	---	---	---	-	16532568	C	-	16532568	7	5	170	1	0	1	0	1	0	0	0	0	902	855	30	0	1135	0	ARHGEF19	1	16532568	Frame_Shift_Del	DEL	C	TCGA-WB-A81Q-01A-11D-A35I-08		16532568	232718053	1	2997										
MAN1C1	57134	broad.mit.edu	37	chr1	25944705	25944705	+	Frame_Shift_Del	DEL	C	C	-													0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	aggcccggggacgagggcgtCcctttccgctttgacttcaa							TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:25944705delC	ENST00000374332.4	+	1	747	c.417delC	c.(415-417)gtcfs	p.V139fs	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	139					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACGAGGGCGTCCCTTTCCGCT	0.716																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(415-417)gtfs		mannosidase, alpha, class 1C, member 1							8	7	7					1																	25944705		1793	3666	5459	SO:0001589	frameshift_variant	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944705delC	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.417delC	1.37:g.25944705delC	ENSP00000363452:p.Val139fs					MAN1C1_ENST00000263979.3_5'UTR	p.V139fs	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	747	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	139					A6NNE2|B2RNP2|Q9Y545	Frame_Shift_Del	DEL	ENST00000374332.4	37	c.417delC	CCDS265.1																																																																																				0.716	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		2	4						2	4	---	---	---	---	-	25944705	C	-	25944705	7	5	170	1	0	1	0	1	0	0	0	0	9213	842	30	0	419	0	MAN1C1	1	25944705	Frame_Shift_Del	DEL	C	TCGA-WB-A81Q-01A-11D-A35I-08	9412137	25944705	223305916	2	2998										
SPTA1	6708	broad.mit.edu	37	chr1	158644382	158644382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	ctccaccagccacatctgttGgcagctcatcagcattgatc	7	15	3	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr1:158644382G>A	ENST00000368147.4	-	9	1376	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	399					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACATCTGTTGGCAGCTCATC	0.512																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1195-1197)cCa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							157	151	153					1																	158644382		1991	4181	6172	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158644382G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1196C>T	1.37:g.158644382G>A	ENSP00000357129:p.Pro399Leu					SPTA1_ENST00000368147.3_Missense_Mutation_p.P399L	p.P399L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			9	1376	-	all_hematologic(112;0.0378)		399					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1196C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266987	0.80469	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36340	1.26;1.26	5.04	5.04	0.67666	.	.	.	.	.	T	0.48995	0.1531	M	0.86502	2.82	0.58432	D	0.999998	P	0.38167	0.621	P	0.48873	0.593	T	0.54715	-0.8252	9	0.59425	D	0.04	.	15.9402	0.79747	0.0:0.0:1.0:0.0	.	399	P02549	SPTA1_HUMAN	L	399	ENSP00000357130:P399L;ENSP00000357129:P399L	ENSP00000357129:P399L	P	-	2	0	SPTA1	156911006	1.000000	0.71417	0.957000	0.39632	0.610000	0.37248	8.673000	0.91186	2.630000	0.89119	0.655000	0.94253	CCA		0.512	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	299	0	0	0	1	0	11	299					A	158644382	G	A	158644382	3	1	170	1	0	0	0	0	1	0	0	0	15115	1348	47	3	6239	3	SPTA1	1	158644382	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	132699677	158644382	90606239	3	2999										
MGAT4A	11320	broad.mit.edu	37	chr2	99256446	99256446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	atggattttaagaagtaatgGtttcatataatctttatcct	6	4	2	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:99256446G>A	ENST00000264968.3	-	11	1510	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S|MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000393487.1_Missense_Mutation_p.P383S			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	383					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGAAGTAATGGTTTCATATAA	0.343																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1147-1149)Cca>Tca		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							64	68	67					2																	99256446		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99256446G>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1147C>T	2.37:g.99256446G>A	ENSP00000264968:p.Pro383Ser					MGAT4A_ENST00000414521.2_Missense_Mutation_p.P255S|MGAT4A_ENST00000264968.2_Missense_Mutation_p.P383S|MGAT4A_ENST00000409391.1_Missense_Mutation_p.P383S	p.P383S	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			12	1460	-			383					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.1147C>T	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371794	0.24857	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.21932	1.99;1.98;1.99;1.99	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.41079	1.255	0.80722	D	1	P;D	0.89917	0.615;1.0	B;D	0.83275	0.158;0.996	T	0.02781	-1.1111	10	0.08599	T	0.76	-2.1988	18.6821	0.91549	0.0:0.0:1.0:0.0	.	255;383	E9PEN2;Q9UM21	.;MGT4A_HUMAN	S	383;255;383;383	ENSP00000377127:P383S;ENSP00000404889:P255S;ENSP00000264968:P383S;ENSP00000386841:P383S	ENSP00000264968:P383S	P	-	1	0	MGAT4A	98622878	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.549000	0.73900	2.656000	0.90262	0.557000	0.71058	CCA		0.343	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		6	65	0	0	0	1	0	6	65					A	99256446	G	A	99256446	3	1	170	1	0	0	0	0	1	0	0	0	9545	1261	44	3	559	3	MGAT4A	2	99256446	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		99256446	143942927	4	3000										
EIF5B	9669	broad.mit.edu	37	chr2	99978277	99978277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	aagcagagactcccacagctGcagaaggttggttaatactt	10	9	0	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:99978277G>T	ENST00000289371.6	+	4	1115	c.913G>T	c.(913-915)Gca>Tca	p.A305S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	305					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCCACAGCTGCAGAAGGTTG	0.388																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(913-915)Gca>Tca		eukaryotic translation initiation factor 5B							78	77	78					2																	99978277		1846	4079	5925	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99978277G>T	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.913G>T	2.37:g.99978277G>T	ENSP00000289371:p.Ala305Ser						p.A305S	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	1115	+			305					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.913G>T	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	G	7.746	0.702343	0.15172	.	.	ENSG00000158417	ENST00000289371	T	0.45276	0.9	5.92	0.335	0.15953	.	.	.	.	.	T	0.24470	0.0593	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.20306	-1.0279	8	.	.	.	-0.9202	3.3321	0.07088	0.1526:0.237:0.4886:0.1218	.	305	O60841	IF2P_HUMAN	S	305	ENSP00000289371:A305S	.	A	+	1	0	EIF5B	99344709	0.011000	0.17503	0.001000	0.08648	0.996000	0.88848	1.032000	0.30178	0.043000	0.15746	0.655000	0.94253	GCA		0.388	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		4	170	1	0	0.150653	1	0.154157	4	170					T	99978277	G	T	99978277	3	4	170	1	0	0	0	0	1	0	0	0	5044	1319	46	5	927	5	EIF5B	2	99978277	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	721831	99978277	143221096	5	3001										
NEB	4703	broad.mit.edu	37	chr2	152466570	152466570	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	cacacataatcttgggatcaTcttcaatgctctgggctcca	7	12	5	0			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:152466570T>C	ENST00000172853.10	-	77	11501	c.11354A>G	c.(11353-11355)gAt>gGt	p.D3785G	NEB_ENST00000604864.1_Missense_Mutation_p.D4028G|NEB_ENST00000427231.2_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000397345.3_Missense_Mutation_p.D4028G			P20929	NEBU_HUMAN	nebulin	3785					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGGATCATCTTCAATGCT	0.418																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(12082-12084)gAt>gGt		nebulin							151	140	144					2																	152466570		1910	4134	6044	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466570T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11354A>G	2.37:g.152466570T>C	ENSP00000172853:p.Asp3785Gly					NEB_ENST00000409198.1_Missense_Mutation_p.D3785G|NEB_ENST00000397345.3_Missense_Mutation_p.D4028G|NEB_ENST00000603639.1_Missense_Mutation_p.D4028G|NEB_ENST00000172853.10_Missense_Mutation_p.D3785G|NEB_ENST00000604864.1_Missense_Mutation_p.D4028G	p.D4028G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12285	-			4027					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.12083A>G		.	.	.	.	.	.	.	.	.	.	T	28.6	4.938563	0.92526	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.75	5.75	0.90469	.	0.051380	0.85682	D	0.000000	T	0.79052	0.4381	M	0.85630	2.765	0.80722	D	1	P	0.41710	0.76	P	0.49421	0.61	T	0.82476	-0.0438	10	0.87932	D	0	.	16.3473	0.83146	0.0:0.0:0.0:1.0	.	3785	P20929	NEBU_HUMAN	G	3785;4028;4028;3785	ENSP00000386259:D3785G;ENSP00000380505:D4028G;ENSP00000416578:D4028G;ENSP00000172853:D3785G	ENSP00000172853:D3785G	D	-	2	0	NEB	152174816	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.948000	0.87774	2.320000	0.78422	0.528000	0.53228	GAT		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		19	31	0	0	0	1	0	19	31					C	152466570	T	C	152466570	3	2	170	1	0	0	0	0	1	0	0	0	10302	1435	50	4	14011	4	NEB	2	152466570	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	52488293	152466570	90732803	6	3002										
SPHKAP	80309	broad.mit.edu	37	chr2	228881275	228881275	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	aggcttctctctgatctgttTcaatctgaatcaaaggcact	7	10	6	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:228881275T>C	ENST00000392056.3	-	7	4341	c.4295A>G	c.(4294-4296)gAa>gGa	p.E1432G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1432						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGATCTGTTTCAATCTGAAT	0.458																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4294-4296)gAa>gGa		SPHK1 interactor, AKAP domain containing							64	67	66					2																	228881275		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881275T>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4295A>G	2.37:g.228881275T>C	ENSP00000375909:p.Glu1432Gly					SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1432G	p.E1432G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4341	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1432					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4295A>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718799	0.89205	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.19669	2.16;2.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.40813	-0.9543	10	0.33141	T	0.24	.	15.0814	0.72117	0.0:0.0:0.0:1.0	.	463;1432;1432	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	G	1432	ENSP00000375909:E1432G;ENSP00000339886:E1432G	ENSP00000339886:E1432G	E	-	2	0	SPHKAP	228589519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.529000	0.67135	2.147000	0.66899	0.533000	0.62120	GAA		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		4	77	0	0	0	1	0	4	77					C	228881275	T	C	228881275	3	2	170	1	0	0	0	0	1	0	0	0	15047	1783	62	4	831	4	SPHKAP	2	228881275	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	76414705	228881275	14318098	7	3003										
PSMD1	5707	broad.mit.edu	37	chr2	231931688	231931688	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	tgcctgaaggagaaaaaaaaCcaattgaccagagattggaa	10	6	0	4	rs201274207	byFrequency	TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:231931688C>A	ENST00000308696.6	+	5	535	c.373C>A	c.(373-375)Cca>Aca	p.P125T	PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T|PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGAAAAAAAACCAATTGACCA	0.378													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		18932	0		0	False		,,,				2504	0					ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(373-375)Cca>Aca		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)																																			SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231931688C>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.373C>A	2.37:g.231931688C>A	ENSP00000309474:p.Pro125Thr					PSMD1_ENST00000373635.4_Missense_Mutation_p.P125T|PSMD1_ENST00000409643.1_Missense_Mutation_p.P125T	p.P125T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	5	535	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	125					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.373C>A	CCDS2482.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	12.08|12.08	1.831237|1.831237	0.32329|0.32329	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643|ENST00000444007	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Armadillo-type fold (1);|.	0.247111|.	0.48767|.	D|.	0.000178|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.27053|0.27053	0.805|0.805	0.44890|0.44890	D|D	0.997903|0.997903	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.49679|0.49679	-0.8914|-0.8914	9|5	0.15499|.	T|.	0.54|.	-4.9741|-4.9741	15.7122|15.7122	0.77641|0.77641	0.0:0.8631:0.1369:0.0|0.0:0.8631:0.1369:0.0	.|.	125;125|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	T|N	125;125;131;125|24	.|.	ENSP00000309474:P125T|.	P|T	+|+	1|2	0|0	PSMD1|PSMD1	231639932|231639932	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.578000|2.578000	0.46051|0.46051	2.565000|2.565000	0.86533|0.86533	0.591000|0.591000	0.81541|0.81541	CCA|ACC		0.378	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			18	37	1	0	1.01871e-10	1	1.12058e-10	18	37					A	231931688	C	A	231931688	3	1	170	1	0	0	0	0	1	0	0	0	12692	507	18	5	391	5	PSMD1	2	231931688	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	3050413	231931688	11267685	8	3004										
MLPH	79083	broad.mit.edu	37	chr2	238419387	238419387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	cacctgcaaaagctgtggccGcgtccacccggaggagcagg	14	14	0	0			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr2:238419387G>A	ENST00000264605.3	+	3	575	c.281G>A	c.(280-282)cGc>cAc	p.R94H	MLPH_ENST00000410032.1_Missense_Mutation_p.R94H|MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.R94H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	94	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGCTGTGGCCGCGTCCACCCG	0.597																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(280-282)cGc>cAc		melanophilin							43	43	43					2																	238419387		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238419387G>A	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.281G>A	2.37:g.238419387G>A	ENSP00000264605:p.Arg94His					MLPH_ENST00000445024.2_Missense_Mutation_p.R94H|MLPH_ENST00000410032.1_Missense_Mutation_p.R94H|MLPH_ENST00000338530.4_Missense_Mutation_p.R94H|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Missense_Mutation_p.R94H	p.R94H	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	3	575	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	94			RabBD.		B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.281G>A	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769038	0.02974	.	.	ENSG00000115648	ENST00000422695;ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.77	-1.59	0.08453	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.458353	0.24970	N	0.034142	T	0.53786	0.1818	N	0.08118	0	0.29815	N	0.831288	B;B;B;B;B;B	0.11235	0.001;0.001;0.0;0.002;0.0;0.004	B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001;0.001	T	0.37820	-0.9689	10	0.23302	T	0.38	-7.7209	12.0521	0.53513	0.1816:0.0:0.8184:0.0	.	94;94;94;94;94;94	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	H	94	ENSP00000409170:R94H;ENSP00000386338:R94H;ENSP00000264605:R94H;ENSP00000414849:R94H;ENSP00000341845:R94H;ENSP00000386780:R94H	ENSP00000264605:R94H	R	+	2	0	MLPH	238084126	0.240000	0.23847	0.048000	0.18961	0.064000	0.16182	1.125000	0.31332	-0.603000	0.05767	-0.253000	0.11424	CGC		0.597	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		3	46	0	0	0	1	0	3	46					A	238419387	G	A	238419387	3	1	170	1	0	0	0	0	1	0	0	0	9633	1087	38	1	287	1	MLPH	2	238419387	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	6487699	238419387	4779986	9	3005										
SETD2	29072	broad.mit.edu	37	chr3	47158161	47158161	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	aatcttccccacatgctattTcaccttgagctctttcatct	3	14	5	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr3:47158161T>A	ENST00000409792.3	-	4	4580	c.4538A>T	c.(4537-4539)gAa>gTa	p.E1513V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1513	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACATGCTATTTCACCTTGAGC	0.353			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4537-4539)gAa>gTa		SET domain containing 2							125	124	124					3																	47158161		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47158161T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4538A>T	3.37:g.47158161T>A	ENSP00000386759:p.Glu1513Val						p.E1513V	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	4	4580	-		Acute lymphoblastic leukemia(5;0.0169)	1513			AWS.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4538A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455043	0.63290	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.78816	-1.21	5.93	5.93	0.95920	AWS (2);	0.000000	0.64402	D	0.000019	T	0.81460	0.4827	M	0.86502	2.82	0.41522	D	0.988405	B;B	0.19706	0.038;0.038	B;B	0.09377	0.004;0.004	T	0.79902	-0.1607	10	0.66056	D	0.02	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	1513;1513	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	1513	ENSP00000386759:E1513V	ENSP00000386759:E1513V	E	-	2	0	SETD2	47133165	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.160000	0.58164	2.270000	0.75569	0.482000	0.46254	GAA		0.353	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	144	0	0	0	1	0	7	144					A	47158161	T	A	47158161	3	1	170	1	0	0	0	0	1	0	0	0	14131	1783	62	5	3228	5	SETD2	3	47158161	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08		47158161	150864269	10	3006										
VPS8	23355	broad.mit.edu	37	chr3	184689502	184689502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	tggagaccattgctctttgcCagagaaattcacataatttg	8	8	2	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr3:184689502C>T	ENST00000437079.3	+	40	3553	c.3382C>T	c.(3382-3384)Cag>Tag	p.Q1128*	VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.Q1126*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1128							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGCTCTTTGCCAGAGAAATTC	0.408																																						ENST00000437079.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(3382-3384)Cag>Tag		vacuolar protein sorting 8 homolog (S. cerevisiae)							110	105	107					3																	184689502		1900	4124	6024	SO:0001587	stop_gained	23355						zinc ion binding	g.chr3:184689502C>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3382C>T	3.37:g.184689502C>T	ENSP00000397879:p.Gln1128*					VPS8_ENST00000436792.2_Nonsense_Mutation_p.Q1126*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.Q1128*|VPS8_ENST00000446204.2_Nonsense_Mutation_p.Q1036*	p.Q1128*	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		40	3553	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		1128					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Nonsense_Mutation	SNP	ENST00000437079.3	37	c.3382C>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	43	9.846805	0.99279	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	.	.	.	6.06	6.06	0.98353	.	0.106857	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.0819	17.5376	0.87837	0.0:1.0:0.0:0.0	.	.	.	.	X	1128;1128;1126;1036	.	ENSP00000287546:Q1128X	Q	+	1	0	VPS8	186172196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.956000	0.63645	2.882000	0.98803	0.655000	0.94253	CAG		0.408	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		15	9	0	0	0	1	0	15	9					T	184689502	C	T	184689502	4	4	170	1	0	0	0	0	0	1	0	0	17215	595	21	3	3532	3	VPS8	3	184689502	Nonsense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	137531341	184689502	13332928	11	3007										
PDS5A	23244	broad.mit.edu	37	chr4	39924324	39924324	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	cttccatgatgatagaactcAtcaaatctagcatgtgcatt	6	9	3	3			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr4:39924324A>T	ENST00000303538.8	-	6	1111	c.572T>A	c.(571-573)aTg>aAg	p.M191K	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GATAGAACTCATCAAATCTAG	0.333																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(571-573)aTg>aAg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							124	112	116					4																	39924324		1872	4101	5973	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39924324A>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.572T>A	4.37:g.39924324A>T	ENSP00000303427:p.Met191Lys					PDS5A_ENST00000503396.1_Missense_Mutation_p.M191K	p.M191K	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			6	1111	-			191						Missense_Mutation	SNP	ENST00000303538.8	37	c.572T>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740892	0.89573	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.68331	-0.18;-0.32	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80894	0.4711	M	0.71581	2.175	0.80722	D	1	D;D	0.62365	0.988;0.991	P;D	0.78314	0.877;0.991	T	0.80845	-0.1200	9	.	.	.	-16.6373	16.3473	0.83146	1.0:0.0:0.0:0.0	.	191;191	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	K	191	ENSP00000303427:M191K;ENSP00000426749:M191K	.	M	-	2	0	PDS5A	39600719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.320000	0.78422	0.528000	0.53228	ATG		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		3	19	0	0	0	1	0	3	19					T	39924324	A	T	39924324	3	4	170	1	0	0	0	0	1	0	0	0	11691	217	8	5	3586	5	PDS5A	4	39924324	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08		39924324	151229952	12	3008										
SHROOM3	57619	broad.mit.edu	37	chr4	77661845	77661845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	tttctctgagtcagctgaacCcctaggcaacggggagcagc	12	12	2	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr4:77661845C>T	ENST00000296043.6	+	5	3472	c.2519C>T	c.(2518-2520)cCc>cTc	p.P840L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	840					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCAGCTGAACCCCTAGGCAAC	0.562																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2518-2520)cCc>cTc		shroom family member 3							61	71	68					4																	77661845		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661845C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2519C>T	4.37:g.77661845C>T	ENSP00000296043:p.Pro840Leu						p.P840L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3472	+			840					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2519C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	3.991	-0.004565	0.07773	.	.	ENSG00000138771	ENST00000296043	T	0.30448	1.53	4.9	1.17	0.20885	.	5.404700	0.00357	N	0.000020	T	0.18130	0.0435	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14200	-1.0481	10	0.10111	T	0.7	0.0056	4.823	0.13400	0.1546:0.5904:0.0:0.2549	.	664;840;618	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	840	ENSP00000296043:P840L	ENSP00000296043:P840L	P	+	2	0	SHROOM3	77880869	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	1.049000	0.30392	0.001000	0.14605	0.558000	0.71614	CCC		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		23	81	0	0	0	1	0	23	81					T	77661845	C	T	77661845	3	4	170	1	0	0	0	0	1	0	0	0	14295	623	22	3	2537	3	SHROOM3	4	77661845	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	37737521	77661845	113492431	13	3009										
SLC22A5	6584	broad.mit.edu	37	chr5	131719958	131719958	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	gtttgtccttgtaggcatggGccagatctccaactatgtgg	12	9	1	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:131719958G>C	ENST00000245407.3	+	3	838	c.617G>C	c.(616-618)gGc>gCc	p.G206A	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	206					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GTAGGCATGGGCCAGATCTCC	0.483																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(616-618)gGc>gCc		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						248	204	219					5																	131719958		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131719958G>C	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.617G>C	5.37:g.131719958G>C	ENSP00000245407:p.Gly206Ala					SLC22A5_ENST00000435065.2_Missense_Mutation_p.G230A	p.G206A	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	838	+		all_cancers(142;0.0751)|Breast(839;0.198)	206					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.617G>C	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964156	0.74131	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.62639	0.01;0.01;0.01	5.58	5.58	0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.095987	0.64402	D	0.000001	T	0.69797	0.3151	L	0.39898	1.24	0.49483	D	0.999799	D;D	0.60575	0.988;0.988	P;P	0.61722	0.893;0.893	T	0.62927	-0.6750	10	0.20046	T	0.44	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	230;206	A2Q0V1;O76082	.;S22A5_HUMAN	A	206;230;129	ENSP00000245407:G206A;ENSP00000402760:G230A;ENSP00000388838:G129A	ENSP00000245407:G206A	G	+	2	0	SLC22A5	131747857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	2.626000	0.88956	0.655000	0.94253	GGC		0.483	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		31	49	0	0	0	1	0	31	49					C	131719958	G	C	131719958	3	2	170	1	0	0	0	0	1	0	0	0	14457	1203	42	5	627	5	SLC22A5	5	131719958	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		131719958	49195302	14	3010										
H2AFY	9555	broad.mit.edu	37	chr5	134705828	134705828	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	ttgccagccagctccagaatCtccgctgtggggagcagaga	13	12	1	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:134705828C>A	ENST00000511689.1	-	3	770	c.177G>T	c.(175-177)gaG>gaT	p.E59D	H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000304332.4_Missense_Mutation_p.E59D	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	59	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCAGAATCTCCGCTGTGG	0.587																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(175-177)gaG>gaT		H2A histone family, member Y							68	55	60					5																	134705828		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134705828C>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.177G>T	5.37:g.134705828C>A	ENSP00000423563:p.Glu59Asp					H2AFY_ENST00000312469.4_Missense_Mutation_p.E59D|H2AFY_ENST00000304332.4_Missense_Mutation_p.E59D|H2AFY_ENST00000510038.1_Missense_Mutation_p.E59D|H2AFY_ENST00000423969.2_Intron	p.E59D	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	770	-			59			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.177G>T	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528309	0.85706	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	6.06	1.32	0.21799	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	H	0.97806	4.08	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.996;0.99;0.999	D	0.85802	0.1374	10	0.87932	D	0	.	7.5247	0.27647	0.0:0.3119:0.0:0.6881	.	59;59;59	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	D	59	ENSP00000423563:E59D;ENSP00000302572:E59D;ENSP00000310169:E59D;ENSP00000424971:E59D	ENSP00000302572:E59D	E	-	3	2	H2AFY	134733727	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.743000	0.38258	0.311000	0.23014	0.655000	0.94253	GAG		0.587	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		3	16	1	0	0.00909568	1	0.00976122	3	16					A	134705828	C	A	134705828	3	1	170	1	0	0	0	0	1	0	0	0	6929	912	32	5	1064	5	H2AFY	5	134705828	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	2985870	134705828	46209432	15	3011										
ANKHD1	54882	broad.mit.edu	37	chr5	139889715	139889715	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	gtgcaagcaggtgctgatgtGgatgcagcagataaccggaa	15	7	0	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr5:139889715G>A	ENST00000360839.2	+	22	4207	c.4053G>A	c.(4051-4053)gtG>gtA	p.V1351V	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V|ANKHD1_ENST00000297183.6_Silent_p.V1351V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1351						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGATGTGGATGCAGCAG	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4051-4053)gtG>gtA		ankyrin repeat and KH domain containing 1							131	122	125					5																	139889715		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139889715G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4053G>A	5.37:g.139889715G>A						ANKHD1_ENST00000360839.2_Silent_p.V1351V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V1351V	p.V1351V	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4177	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.4053G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	g	8.994	0.978543	0.18812	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.54	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4506	0.21902	0.2006:0.0:0.6727:0.1267	.	.	.	.	X	577	.	.	W	+	2	0	ANKHD1	139869899	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.380000	0.52448	0.408000	0.25621	-0.941000	0.02677	TGG		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		8	56	0	0	0	1	0	8	56					A	139889715	G	A	139889715	2	1	170	1	0	0	0	0	0	0	0	1	628	1335	47	3		3	ANKHD1	5	139889715	Silent	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	5183887	139889715	41025545	16	3012										
HEBP2	23593	broad.mit.edu	37	chr6	138726293	138726293	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	ccactttagcccggaagttaTgagatccgacactatggacc	9	12	0	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:138726293T>C	ENST00000607197.1	+	2	391	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	38					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		CCGGAAGTTATGAGATCCGAC	0.507																																						ENST00000607197.1																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(112-114)taT>taC		heme binding protein 2							121	121	121					6																	138726293		2203	4300	6503	SO:0001819	synonymous_variant	23593					mitochondrion		g.chr6:138726293T>C	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.114T>C	6.37:g.138726293T>C						HEBP2_ENST00000448741.1_Silent_p.Y49Y|HEBP2_ENST00000367697.3_Silent_p.Y38Y	p.Y38Y	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	2	391	+	Breast(32;0.0933)		38					Q96P57	Silent	SNP	ENST00000607197.1	37	c.114T>C	CCDS5191.1																																																																																				0.507	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			59	72	0	0	0	1	0	59	72					C	138726293	T	C	138726293	2	2	170	1	0	0	0	0	0	0	0	1	7037	1471	51	4		4	HEBP2	6	138726293	Silent	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08		138726293	32388774	17	3013										
TAB2	23118	broad.mit.edu	37	chr6	149718827	149718827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	gctggataaattaaaatctgAggttaatgaaatggaaaata	9	2	1	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:149718827A>C	ENST00000367456.1	+	5	2268	c.1691A>C	c.(1690-1692)gAg>gCg	p.E564A	TAB2_ENST00000536230.1_Missense_Mutation_p.E532A|TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000286332.5_Missense_Mutation_p.E564A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	564					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TTAAAATCTGAGGTTAATGAA	0.368																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1690-1692)gAg>gCg		TGF-beta activated kinase 1/MAP3K7 binding protein 2							114	128	123					6																	149718827		2203	4298	6501	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149718827A>C	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1691A>C	6.37:g.149718827A>C	ENSP00000356426:p.Glu564Ala					TAB2_ENST00000286332.5_Missense_Mutation_p.E564A|TAB2_ENST00000538427.1_Missense_Mutation_p.E564A|TAB2_ENST00000536230.1_Missense_Mutation_p.E532A	p.E564A			Q9NYJ8	TAB2_HUMAN			5	2268	+			564					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1691A>C	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070414	0.76301	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.70275	2.135	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.74674	0.984;0.984	T	0.44097	-0.9350	10	0.87932	D	0	-7.311	15.0997	0.72266	1.0:0.0:0.0:0.0	.	532;564	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	A	532;564;564;564	ENSP00000443206:E532A;ENSP00000445752:E564A;ENSP00000356426:E564A;ENSP00000286332:E564A	ENSP00000286332:E564A	E	+	2	0	TAB2	149760520	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.780000	0.91799	2.028000	0.59812	0.383000	0.25322	GAG		0.368	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			5	130	0	0	0	1	0	5	130					C	149718827	A	C	149718827	3	2	170	1	0	0	0	0	1	0	0	0	15493	304	11	5	1701	5	TAB2	6	149718827	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08	10992534	149718827	21396240	18	3014			1	6		2	2	47	A		4.011967e-05
TAB2	23118	broad.mit.edu	37	chr6	149718873	149718873	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	actcgaaggcgcctgaaaagAtcaaattctatatcccagat	7	10	2	3			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr6:149718873A>T	ENST00000367456.1	+	5	2314	c.1737A>T	c.(1735-1737)agA>agT	p.R579S	TAB2_ENST00000536230.1_Missense_Mutation_p.R547S|TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000286332.5_Missense_Mutation_p.R579S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	579					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCCTGAAAAGATCAAATTCTA	0.343																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(1735-1737)agA>agT		TGF-beta activated kinase 1/MAP3K7 binding protein 2							132	142	138					6																	149718873		2200	4299	6499	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149718873A>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1737A>T	6.37:g.149718873A>T	ENSP00000356426:p.Arg579Ser					TAB2_ENST00000286332.5_Missense_Mutation_p.R579S|TAB2_ENST00000538427.1_Missense_Mutation_p.R579S|TAB2_ENST00000536230.1_Missense_Mutation_p.R547S	p.R579S			Q9NYJ8	TAB2_HUMAN			5	2314	+			579					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.1737A>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320746	0.60634	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.74421	-0.84;-0.83;-0.83;-0.83	5.06	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.68952	2.095	0.80722	D	1	B;P	0.40398	0.411;0.716	B;P	0.47603	0.28;0.551	T	0.67910	-0.5548	10	0.87932	D	0	-11.4289	8.2498	0.31710	0.7834:0.0:0.2166:0.0	.	547;579	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	S	547;579;579;579	ENSP00000443206:R547S;ENSP00000445752:R579S;ENSP00000356426:R579S;ENSP00000286332:R579S	ENSP00000286332:R579S	R	+	3	2	TAB2	149760566	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.778000	0.47726	0.329000	0.23460	0.383000	0.25322	AGA		0.343	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			5	100	0	0	0	1	0	5	100					T	149718873	A	T	149718873	3	4	170	1	0	0	0	0	1	0	0	0	15493	330	12	5	1747	5	TAB2	6	149718873	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08	46	149718873	21396194	19	3015			1	6		2	2	47	A		4.011967e-05
KCNC1	3746	broad.mit.edu	37	chr11	17757753	17757753	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	ggcgtcttcgcgcacatcctGaactactaccgcacgggcaa	10	15	1	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:17757753G>C	ENST00000379472.3	+	1	234	c.204G>C	c.(202-204)ctG>ctC	p.L68L	KCNC1_ENST00000265969.6_Silent_p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	68					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CGCACATCCTGAACTACTACC	0.672																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(202-204)ctG>ctC		potassium voltage-gated channel, Shaw-related subfamily, member 1							52	48	49					11																	17757753		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757753G>C	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.204G>C	11.37:g.17757753G>C						KCNC1_ENST00000265969.6_Silent_p.L68L	p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	234	+			68					K4DI87	Silent	SNP	ENST00000379472.3	37	c.204G>C	CCDS7827.1																																																																																				0.672	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		25	24	0	0	0	1	0	25	24					C	17757753	G	C	17757753	2	2	170	1	0	0	0	0	0	0	0	1	8014	1277	45	5		5	KCNC1	11	17757753	Silent	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		17757753	117248763	20	3016										
OR8I2	120586	broad.mit.edu	37	chr11	55860831	55860831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	accgtcttcatcctctctggAtttgcaaatcaccctgaatt	5	13	4	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:55860831A>G	ENST00000302124.2	+	1	79	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCCTCTCTGGATTTGCAAATC	0.388																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(46-48)ggA>ggG		olfactory receptor, family 8, subfamily I, member 2							161	158	159					11																	55860831		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860831A>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.48A>G	11.37:g.55860831A>G						OR8I2_ENST00000560768.1_Silent_p.G16G	p.G16G			Q8N0Y5	OR8I2_HUMAN			1	79	+	Esophageal squamous(21;0.00693)		16					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.48A>G	CCDS31517.1																																																																																				0.388	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		81	113	0	0	0	1	0	81	113					G	55860831	A	G	55860831	2	3	170	1	0	0	0	0	0	0	0	1	11240	320	12	4		4	OR8I2	11	55860831	Silent	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08	38103078	55860831	79145685	21	3017										
TRPC6	7225	broad.mit.edu	37	chr11	101375232	101375232	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	tccccaactcgagagaggttTtctttcttgagaagaagttc	9	9	2	3			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:101375232T>G	ENST00000344327.3	-	2	892	c.468A>C	c.(466-468)gaA>gaC	p.E156D	TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E156D|TRPC6_ENST00000526713.1_5'Flank	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	156					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAGAGAGGTTTTCTTTCTTGA	0.448																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(466-468)gaA>gaC		transient receptor potential cation channel, subfamily C, member 6							66	64	65					11																	101375232		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375232T>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.468A>C	11.37:g.101375232T>G	ENSP00000340913:p.Glu156Asp					TRPC6_ENST00000348423.4_Missense_Mutation_p.E156D|TRPC6_ENST00000360497.4_Missense_Mutation_p.E156D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E156D	p.E156D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	892	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	156					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.468A>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822268	0.32237	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.84	4.72	0.59763	Ankyrin repeat-containing domain (3);	0.151460	0.64402	D	0.000012	T	0.48021	0.1477	N	0.05510	-0.035	0.42650	D	0.993445	B;B;B	0.23490	0.016;0.086;0.019	B;B;B	0.29942	0.02;0.109;0.034	T	0.33599	-0.9862	10	0.16896	T	0.51	-7.8983	7.7933	0.29133	0.0:0.2329:0.0:0.7671	.	156;156;156	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	D	156	ENSP00000340913:E156D;ENSP00000435574:E156D;ENSP00000343672:E156D;ENSP00000353687:E156D	ENSP00000340913:E156D	E	-	3	2	TRPC6	100880442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.642000	0.24735	1.052000	0.40392	0.528000	0.53228	GAA		0.448	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		13	44	0	0	0	1	0	13	44					G	101375232	T	G	101375232	3	3	170	1	0	0	0	0	1	0	0	0	16580	1838	64	5	2375	5	TRPC6	11	101375232	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	45514401	101375232	33631284	22	3018										
MMP8	4317	broad.mit.edu	37	chr11	102584138	102584138	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	aactctggtaactctctgagCaataagatcaaatgcgtaat	7	8	3	2			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr11:102584138C>A	ENST00000236826.3	-	10	1443	c.1345G>T	c.(1345-1347)Gct>Tct	p.A449S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	449					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACTCTCTGAGCAATAAGATCA	0.343																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(1345-1347)Gct>Tct		matrix metallopeptidase 8 (neutrophil collagenase)							179	156	164					11																	102584138		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584138C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1345G>T	11.37:g.102584138C>A	ENSP00000236826:p.Ala449Ser						p.A449S	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	10	1443	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	449			Hemopexin-like 4.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1345G>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075454	0.08485	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.13196	2.61	5.44	-4.9	0.03094	Hemopexin/matrixin (2);	0.980746	0.08332	N	0.962236	T	0.04998	0.0134	N	0.12831	0.26	0.09310	N	1	B;B	0.19935	0.014;0.04	B;B	0.21360	0.01;0.034	T	0.43458	-0.9390	10	0.08381	T	0.77	.	4.1071	0.10041	0.3689:0.2085:0.0:0.4226	.	449;449	A8K9E4;P22894	.;MMP8_HUMAN	S	449;426	ENSP00000236826:A449S	ENSP00000236826:A449S	A	-	1	0	MMP8	102089348	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.725000	0.00808	-0.956000	0.03631	-0.253000	0.11424	GCT		0.343	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		6	89	1	0	0.0293803	1	0.0307794	6	89					A	102584138	C	A	102584138	3	1	170	1	0	0	0	0	1	0	0	0	9668	710	25	5	62	5	MMP8	11	102584138	Missense_Mutation	SNP	C	TCGA-WB-A81Q-01A-11D-A35I-08	1208906	102584138	32422378	23	3019										
MED13L	23389	broad.mit.edu	37	chr12	116429391	116429391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	tgtcaaagtttctgtctttaAagatattcatcacggaatcg	7	7	5	1			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr12:116429391A>C	ENST00000281928.3	-	17	3574	c.3368T>G	c.(3367-3369)tTt>tGt	p.F1123C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1123						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTGTCTTTAAAGATATTCAT	0.517																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(3367-3369)tTt>tGt		mediator complex subunit 13-like							62	62	62					12																	116429391		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429391A>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3368T>G	12.37:g.116429391A>C	ENSP00000281928:p.Phe1123Cys						p.F1123C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3574	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1123					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.3368T>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919337	0.52546	.	.	ENSG00000123066	ENST00000281928	D	0.83673	-1.75	5.18	5.18	0.71444	.	0.095205	0.64402	D	0.000001	D	0.89795	0.6818	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90960	0.4812	10	0.87932	D	0	.	15.1994	0.73122	1.0:0.0:0.0:0.0	.	1123	Q71F56	MD13L_HUMAN	C	1123	ENSP00000281928:F1123C	ENSP00000281928:F1123C	F	-	2	0	MED13L	114913774	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.761000	0.91691	2.180000	0.69256	0.377000	0.23210	TTT		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			41	41	0	0	0	1	0	41	41					C	116429391	A	C	116429391	3	2	170	1	0	0	0	0	1	0	0	0	9431	14	1	5	3324	5	MED13L	12	116429391	Missense_Mutation	SNP	A	TCGA-WB-A81Q-01A-11D-A35I-08		116429391	17422504	24	3020										
MLLT1	4298	broad.mit.edu	37	chr19	6270667	6270667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	gctggatgtcacattgctcgGggccgcggacaaacaccatc	12	13	1	0			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:6270667G>C	ENST00000252674.7	-	2	279	c.116C>G	c.(115-117)cCc>cGc	p.P39R		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	39	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACATTGCTCGGGGCCGCGGAC	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(115-117)cCc>cGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							119	91	100					19																	6270667		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270667G>C		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.116C>G	19.37:g.6270667G>C	ENSP00000252674:p.Pro39Arg		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.P39R	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	279	-			39			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.116C>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806341	0.90623	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.83801	0.5333	M	0.86805	2.84	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.86473	0.1786	9	0.72032	D	0.01	-18.3509	16.6911	0.85322	0.0:0.0:1.0:0.0	.	39	Q03111	ENL_HUMAN	R	39	.	ENSP00000252674:P39R	P	-	2	0	MLLT1	6221667	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CCC		0.622	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		31	30	0	0	0	1	0	31	30					C	6270667	G	C	6270667	3	2	170	1	0	0	0	0	1	0	0	0	9625	1232	43	5	1607	5	MLLT1	19	6270667	Missense_Mutation	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08		6270667	52858316	25	3021										
CEACAM6	4680	broad.mit.edu	37	chr19	42265395	42265395	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	tgtgaaatacagaacccagcGagtgccaaccgcagtgaccc	10	13	0	3			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:42265395G>A	ENST00000199764.6	+	3	881	c.663G>A	c.(661-663)gcG>gcA	p.A221A	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	221	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGAACCCAGCGAGTGCCAACC	0.542																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(661-663)gcG>gcA		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							215	206	209					19																	42265395		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42265395G>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.663G>A	19.37:g.42265395G>A						AC011513.4_ENST00000601409.1_RNA	p.A221A	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	3	881	+			221			Ig-like C2-type 1.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.663G>A	CCDS12585.1																																																																																				0.542	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			95	126	0	0	0	1	0	95	126					A	42265395	G	A	42265395	2	1	170	1	0	0	0	0	0	0	0	1	3196	1045	37	2		2	CEACAM6	19	42265395	Silent	SNP	G	TCGA-WB-A81Q-01A-11D-A35I-08	35994728	42265395	16863588	26	3022										
JOSD2	126119	broad.mit.edu	37	chr19	51013652	51013652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.037037037037037	1	1	0.546067415730337	1.82022471910112	0	1	1	0	ctgccgttcgtggtacacggTgggtgggctcggctgtgctc	17	11	0	0			TCGA-WB-A81Q-01A-11D-A35I-08	TCGA-WB-A81Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2be35d9d-a4ba-438f-b5b7-f6187fa78554	68f9891f-65a7-48ae-95c6-e807a953400b	g.chr19:51013652T>C	ENST00000598418.1	-	2	290	c.37A>G	c.(37-39)Acc>Gcc	p.T13A	ASPDH_ENST00000597030.1_5'Flank|JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A|JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	13	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TGGTACACGGTGGGTGGGCTC	0.662																																						ENST00000598418.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(37-39)Acc>Gcc		Josephin domain containing 2							80	81	81					19																	51013652		2203	4300	6503	SO:0001583	missense	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51013652T>C	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.37A>G	19.37:g.51013652T>C	ENSP00000468956:p.Thr13Ala					JOSD2_ENST00000391815.3_Missense_Mutation_p.T13A|JOSD2_ENST00000601423.1_Missense_Mutation_p.T13A|JOSD2_ENST00000595669.1_Missense_Mutation_p.T13A	p.T13A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	2	290	-		all_neural(266;0.131)	13			Josephin.		M0QX25	Missense_Mutation	SNP	ENST00000598418.1	37	c.37A>G	CCDS12797.1	.	.	.	.	.	.	.	.	.	.	T	7.528	0.658159	0.14645	.	.	ENSG00000161677	ENST00000293431;ENST00000391815	T	0.40225	1.04	3.18	-1.76	0.08006	.	0.520561	0.17288	N	0.179754	T	0.14657	0.0354	N	0.08118	0	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10543	-1.0625	10	0.22706	T	0.39	-5.7597	0.4217	0.00457	0.3047:0.1902:0.1245:0.3805	.	33;13	Q7Z7N5;Q8TAC2	.;JOS2_HUMAN	A	33;13	ENSP00000375691:T13A	ENSP00000293431:T33A	T	-	1	0	JOSD2	55705464	0.018000	0.18449	0.897000	0.35233	0.744000	0.42396	0.394000	0.20834	-0.293000	0.08986	-0.568000	0.04159	ACC		0.662	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		42	43	0	0	0	1	0	42	43					C	51013652	T	C	51013652	3	2	170	1	0	0	0	0	1	0	0	0	7959	1696	59	4	545	4	JOSD2	19	51013652	Missense_Mutation	SNP	T	TCGA-WB-A81Q-01A-11D-A35I-08	8748257	51013652	8115331	27	3023										
ZNF672	79894	broad.mit.edu	37	chr1	249141581	249141581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgcgacatgaacgagctcaCggcggtgacggccgcttccg	14	14	1	2			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr1:249141581C>T	ENST00000306562.3	+	4	854	c.108C>T	c.(106-108)caC>caT	p.H36H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AACGAGCTCACGGCGGTGACG	0.642																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(106-108)caC>caT		zinc finger protein 672							40	33	36					1																	249141581		2203	4300	6503	SO:0001819	synonymous_variant	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249141581C>T	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.108C>T	1.37:g.249141581C>T							p.H36H	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	854	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	36					Q96H65|Q96IM3|Q9H6G5	Silent	SNP	ENST00000306562.3	37	c.108C>T	CCDS1638.1																																																																																				0.642	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		6	4	0	0	0	1	0	6	4					T	249141581	C	T	249141581	2	4	171	1	0	0	0	0	0	0	0	1	18076	535	19	1		1	ZNF672	1	249141581	Silent	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		249141581	109040	1	3024										
UGT1A4	54657	broad.mit.edu	37	chr2	234627834	234627834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tatgaacaatgtatctttggCccttcataggtgttgtgtgg	11	6	2	1			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr2:234627834C>T	ENST00000373409.3	+	1	411	c.368C>T	c.(367-369)gCc>gTc	p.A123V	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	123					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GTATCTTTGGCCCTTCATAGG	0.443																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(367-369)gCc>gTc									211	209	209					2																	234627834		2203	4300	6503	SO:0001583	missense	54657							g.chr2:234627834C>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.368C>T	2.37:g.234627834C>T	ENSP00000362508:p.Ala123Val					UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron	p.A123V	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	411	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.368C>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	c	4.608	0.112925	0.08831	.	.	ENSG00000244474	ENST00000373409	T	0.58210	0.35	4.16	0.0178	0.14113	.	.	.	.	.	T	0.22282	0.0537	N	0.04335	-0.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15694	-1.0428	9	0.17832	T	0.49	.	1.9189	0.03303	0.1267:0.1715:0.1309:0.5709	.	123;123	B8K288;P22310	.;UD14_HUMAN	V	123	ENSP00000362508:A123V	ENSP00000362508:A123V	A	+	2	0	UGT1A4	234292573	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.084000	0.03393	-0.714000	0.04975	-1.853000	0.00566	GCC		0.443	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		4	221	0	0	0	1	0	4	221					T	234627834	C	T	234627834	3	4	171	1	0	0	0	0	1	0	0	0	16944	739	26	3	370	3	UGT1A4	2	234627834	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		234627834	8571539	2	3025										
GRIP2	80852	broad.mit.edu	37	chr3	14536429	14536429	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acagtgtggacatagacaccTttttccaggaggccatctga	10	10	1	2			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr3:14536429T>C	ENST00000273083.3	-	0	2956							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATAGACACCTTTTTCCAGGA	0.612																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							96	99	98					3																	14536429		2047	4183	6230			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14536429T>C	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14536429T>C										Q9C0E4	GRIP2_HUMAN			0	2956	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		3	60	0	0	0	1	0	3	60					C	14536429	T	C	14536429	1	2	171	0	1	0	0	0	0	0	0	0	6788	1606	56	4		4	GRIP2	3	14536429	RNA	SNP	T	TCGA-WB-A81R-01A-11D-A35I-08		14536429	183486001	3	3026										
OR5K1	26339	broad.mit.edu	37	chr3	98188581	98188581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	actgatatttacacaccgtcGgcttcacacaccaatgtaca	5	13	1	1	rs372270718		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr3:98188581G>A	ENST00000332650.5	+	1	258	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453													G|||	1	0.000199681	0	0	5008	,	,		19776	0		0	False		,,,				2504	0.001					ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(160-162)cGg>cAg		olfactory receptor, family 5, subfamily K, member 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	270	267	268		161	-8	0	3		268	0,8598		0,0,4299	no	missense	OR5K1	NM_001004736.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	54/309	98188581	1,13003	2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188581G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.161G>A	3.37:g.98188581G>A	ENSP00000373193:p.Arg54Gln						p.R54Q	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	258	+			54					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.161G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149967	0.21371	2.27E-4	0.0	ENSG00000232382	ENST00000332650	T	0.00583	6.41	5.18	-7.99	0.01131	GPCR, rhodopsin-like superfamily (1);	1.333180	0.05325	N	0.527211	T	0.00384	0.0012	N	0.25031	0.7	0.09310	N	1	B	0.25850	0.136	B	0.14023	0.01	T	0.44375	-0.9332	10	0.25751	T	0.34	1.2397	4.8465	0.13516	0.5597:0.0968:0.2457:0.0978	.	54	Q8NHB7	OR5K1_HUMAN	Q	54	ENSP00000373193:R54Q	ENSP00000373193:R54Q	R	+	2	0	OR5K1	99671271	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.050000	0.01404	-1.476000	0.01874	-3.439000	0.00036	CGG		0.453	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			4	228	0	0	0	1	0	4	228					A	98188581	G	A	98188581	3	1	171	1	0	0	0	0	1	0	0	0	11166	1116	39	2	163	2	OR5K1	3	98188581	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	83652152	98188581	99833849	4	3027										
CXXC4	80319	broad.mit.edu	37	chr4	105412355	105412355	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	aaggtctgcagtgttcagggGataaggtggagaggaaatta	16	3	2	1			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr4:105412355G>C	ENST00000426831.1	-	1	112	c.98C>G	c.(97-99)tCc>tGc	p.S33C	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.S202C|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	33					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GTGTTCAGGGGATAAGGTGGA	0.562																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(604-606)tCc>tGc		CXXC finger protein 4							139	153	149					4																	105412355		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412355G>C		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.98C>G	4.37:g.105412355G>C	ENSP00000412267:p.Ser33Cys					CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.S33C	p.S202C	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1055	-			33						Missense_Mutation	SNP	ENST00000426831.1	37	c.605C>G		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499106	0.44455	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	3.07	3.07	0.35406	.	0.126753	0.49916	D	0.000133	T	0.36991	0.0987	N	0.08118	0	0.45995	D	0.9988	B	0.23442	0.085	B	0.28784	0.094	T	0.33189	-0.9878	9	0.48119	T	0.1	-5.7922	11.3241	0.49438	0.0:0.1858:0.8142:0.0	.	33	Q9H2H0	CXXC4_HUMAN	C	33	.	ENSP00000378248:S33C	S	-	2	0	CXXC4	105631804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.251000	0.72441	1.747000	0.51819	0.298000	0.19748	TCC		0.562	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		15	208	0	0	0	1	0	15	208					C	105412355	G	C	105412355	3	2	171	1	0	0	0	0	1	0	0	0	4098	1174	41	5	506	5	CXXC4	4	105412355	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08		105412355	85741921	5	3028										
NUDT6	11162	broad.mit.edu	37	chr4	123843575	123843575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accgagatgcccccgaatctGtccagctcgccctgcagatc	9	17	1	2			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr4:123843575G>A	ENST00000304430.5	-	1	186	c.153C>T	c.(151-153)gaC>gaT	p.D51D	SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	51						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CCCCGAATCTGTCCAGCTCGC	0.711																																						ENST00000304430.5																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(151-153)gaC>gaT		nudix (nucleoside diphosphate linked moiety X)-type motif 6							20	26	24					4																	123843575		2023	4162	6185	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123843575G>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.153C>T	4.37:g.123843575G>A						NUDT6_ENST00000339154.2_Intron	p.D51D	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN			1	186	-			51					A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.153C>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764954	0.31228	.	.	ENSG00000170917	ENST00000510735	.	.	.	4.64	1.83	0.25207	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47262	-0.9131	4	.	.	.	-20.0274	7.3545	0.26711	0.1627:0.1386:0.6987:0.0	.	.	.	.	I	8	.	.	T	-	2	0	NUDT6	124063025	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	2.302000	0.43637	0.543000	0.28864	0.561000	0.74099	ACA		0.711	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		3	15	0	0	0	1	0	3	15					A	123843575	G	A	123843575	2	1	171	1	0	0	0	0	0	0	0	1	10743	1368	48	3		3	NUDT6	4	123843575	Silent	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	18431220	123843575	67310701	6	3029										
CLPTM1L	81037	broad.mit.edu	37	chr5	1325911	1325911	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaaaaatagtcatcttcaaTgccttcttcactttccacag	3	12	5	0			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr5:1325911T>C	ENST00000320895.5	-	10	1358	c.1101A>G	c.(1099-1101)gcA>gcG	p.A367A	CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Silent_p.A331A	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	367					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCATCTTCAATGCCTTCTTCA	0.458																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1099-1101)gcA>gcG		CLPTM1-like							114	119	117					5																	1325911		2203	4300	6503	SO:0001819	synonymous_variant	81037				apoptosis	integral to membrane		g.chr5:1325911T>C	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1101A>G	5.37:g.1325911T>C						CLPTM1L_ENST00000507807.1_Silent_p.A198A|CLPTM1L_ENST00000320927.6_Silent_p.A331A|CLPTM1L_ENST00000506641.1_5'UTR	p.A367A	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	10	1358	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		367					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	c.1101A>G	CCDS3862.1																																																																																				0.458	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		45	71	0	0	0	1	0	45	71					C	1325911	T	C	1325911	2	2	171	1	0	0	0	0	0	0	0	1	3555	1451	51	4		4	CLPTM1L	5	1325911	Silent	SNP	T	TCGA-WB-A81R-01A-11D-A35I-08		1325911	179589349	7	3030										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		21	35	0	0	0	1	0	21	35					C	533874	T	C	533874	3	2	171	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A81R-01A-11D-A35I-08		533874	134472642	8	3031										
APBB1	322	broad.mit.edu	37	chr11	6422898	6422898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcatctgggtcagcttatcaCgagctacgtaggcaaagtcc	11	11	3	0	rs139600801		TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr11:6422898C>T	ENST00000609360.1	-	10	1508	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	APBB1_ENST00000529519.1_De_novo_Start_OutOfFrame|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H|APBB1_ENST00000609331.1_Missense_Mutation_p.R235H|APBB1_ENST00000608704.1_Missense_Mutation_p.R211H|APBB1_ENST00000608394.1_Missense_Mutation_p.R211H|APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H|APBB1_ENST00000608645.1_Missense_Mutation_p.R211H|APBB1_ENST00000608655.1_Missense_Mutation_p.R250H|APBB1_ENST00000389906.2_Missense_Mutation_p.R470H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	470	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCTTATCACGAGCTACGTA	0.597													C|||	1	0.000199681	0	0	5008	,	,		20041	0		0.001	False		,,,				2504	0				GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1408-1410)cGt>cAt		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	170	118	136		1409,1403	4.2	1	11	dbSNP_134	136	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense	APBB1	NM_001164.2,NM_145689.1	29,29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	470/711,468/709	6422898	2,12992	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422898C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1409G>A	11.37:g.6422898C>T	ENSP00000477213:p.Arg470His					APBB1_ENST00000533407.1_Missense_Mutation_p.R209H|APBB1_ENST00000530885.1_Missense_Mutation_p.R248H|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.R468H|APBB1_ENST00000299402.6_Missense_Mutation_p.R468H	p.R470H	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	9	1508	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	470			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1409G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.38	3.816055	0.70912	0.0	2.33E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000007	T	0.37376	0.1001	M	0.75777	2.31	0.54753	D	0.999984	D;D;D	0.89917	1.0;0.985;0.999	D;P;P	0.87578	0.998;0.613;0.856	T	0.15464	-1.0436	10	0.72032	D	0.01	-4.4975	7.7188	0.28721	0.0:0.8859:0.0:0.1141	.	73;248;468	B7Z4M4;B7Z2Y0;O00213-2	.;.;.	H	468;468;470;319;211;235;248;209	ENSP00000299402:R468H;ENSP00000311912:R468H;ENSP00000374556:R470H;ENSP00000433338:R248H;ENSP00000437114:R209H	ENSP00000299402:R468H	R	-	2	0	APBB1	6379474	0.904000	0.30761	0.962000	0.40283	0.968000	0.65278	7.425000	0.80255	2.137000	0.66172	0.591000	0.81541	CGT		0.597	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		3	48	0	0	0	1	0	3	48					T	6422898	C	T	6422898	3	4	171	1	0	0	0	0	1	0	0	0	759	536	19	1	747	1	APBB1	11	6422898	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08	5889024	6422898	128583618	9	3032										
PEX5	5830	broad.mit.edu	37	chr12	7360370	7360370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtgctgctttttgaggcagCtgtgcagcaggatcctaagc	13	9	0	1			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr12:7360370C>T	ENST00000455147.2	+	12	1662	c.1082C>T	c.(1081-1083)gCt>gTt	p.A361V	PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000266563.5_Missense_Mutation_p.A324V|PEX5_ENST00000420616.2_Missense_Mutation_p.A361V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	361					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TTTGAGGCAGCTGTGCAGCAG	0.547																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(970-972)gCt>gTt		peroxisomal biogenesis factor 5							126	122	124					12																	7360370		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7360370C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1082C>T	12.37:g.7360370C>T	ENSP00000400647:p.Ala361Val					PEX5_ENST00000420616.2_Missense_Mutation_p.A361V|PEX5_ENST00000455147.2_Missense_Mutation_p.A361V|PEX5_ENST00000434354.2_Missense_Mutation_p.A376V|PEX5_ENST00000266564.3_Missense_Mutation_p.A353V|PEX5_ENST00000412720.2_Missense_Mutation_p.A382V	p.A324V	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			10	1154	+			361					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.971C>T	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066753	0.93898	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.051122	0.85682	D	0.000000	D	0.86079	0.5847	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D	0.89917	0.978;1.0;1.0;0.98;0.99	B;P;D;P;P	0.67231	0.421;0.891;0.95;0.657;0.657	D	0.87909	0.2696	10	0.87932	D	0	.	18.3744	0.90431	0.0:1.0:0.0:0.0	.	382;376;361;353;324	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	V	361;324;376;361;382;331;353	ENSP00000400647:A361V;ENSP00000266563:A324V;ENSP00000407401:A376V;ENSP00000410159:A361V;ENSP00000391601:A382V;ENSP00000379877:A331V;ENSP00000266564:A353V	ENSP00000266563:A324V	A	+	2	0	PEX5	7251637	1.000000	0.71417	0.569000	0.28460	0.997000	0.91878	5.810000	0.69179	2.572000	0.86782	0.491000	0.48974	GCT		0.547	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		10	83	0	0	0	1	0	10	83					T	7360370	C	T	7360370	3	4	171	1	0	0	0	0	1	0	0	0	11748	797	28	3	1165	3	PEX5	12	7360370	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		7360370	126491525	10	3033										
IQCH	64799	broad.mit.edu	37	chr15	67677304	67677304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcctgtgagagaacatattgCcgatttcaacacacagcaga	9	10	1	3			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr15:67677304C>T	ENST00000335894.4	+	11	1469	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	468										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAACATATTGCCGATTTCAAC	0.408																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1402-1404)gCc>gTc		IQ motif containing H							322	306	311					15																	67677304		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67677304C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1403C>T	15.37:g.67677304C>T	ENSP00000336861:p.Ala468Val					IQCH_ENST00000360277.4_Missense_Mutation_p.A220V|IQCH_ENST00000358767.3_Missense_Mutation_p.A295V|IQCH_ENST00000546225.1_Missense_Mutation_p.A216V	p.A468V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	11	1469	+			468					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1403C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.264917	0.59431	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.44083	0.93;0.94;0.93;0.93	6.04	-2.79	0.05841	.	1.016690	0.07836	N	0.962207	T	0.20292	0.0488	N	0.16478	0.41	0.09310	N	1	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.12837	0.003;0.003;0.008	T	0.19844	-1.0293	10	0.29301	T	0.29	-14.7469	1.4529	0.02379	0.2765:0.3571:0.1813:0.1851	.	216;220;468	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	V	295;216;468;220	ENSP00000351617:A295V;ENSP00000444118:A216V;ENSP00000336861:A468V;ENSP00000353419:A220V	ENSP00000336861:A468V	A	+	2	0	IQCH	65464358	0.000000	0.05858	0.000000	0.03702	0.917000	0.54804	0.088000	0.14979	-0.333000	0.08476	0.563000	0.77884	GCC		0.408	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		4	170	0	0	0	1	0	4	170					T	67677304	C	T	67677304	3	4	171	1	0	0	0	0	1	0	0	0	7811	739	26	3	1573	3	IQCH	15	67677304	Missense_Mutation	SNP	C	TCGA-WB-A81R-01A-11D-A35I-08		67677304	34854088	11	3034										
RFWD3	55159	broad.mit.edu	37	chr16	74695298	74695298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caggagctggctgttgttcgGcatgatttaactgcacctga	12	9	0	2			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr16:74695298G>A	ENST00000361070.4	-	2	147	c.50C>T	c.(49-51)gCc>gTc	p.A17V	RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	17					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTTGTTCGGCATGATTTAA	0.478																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(49-51)gCc>gTc		ring finger and WD repeat domain 3							126	135	132					16																	74695298		2198	4299	6497	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695298G>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.50C>T	16.37:g.74695298G>A	ENSP00000354361:p.Ala17Val					RFWD3_ENST00000571750.1_Missense_Mutation_p.A17V	p.A17V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			2	147	-			17					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.50C>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254103	0.22965	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.20200	2.09	4.21	2.21	0.28008	.	3.651800	0.00654	N	0.000564	T	0.15869	0.0382	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.22138	-1.0225	10	0.12430	T	0.62	-13.0752	5.9006	0.18964	0.1042:0.1942:0.7016:0.0	.	17	Q6PCD5	RFWD3_HUMAN	V	17	ENSP00000354361:A17V	ENSP00000354361:A17V	A	-	2	0	RFWD3	73252799	0.003000	0.15002	0.003000	0.11579	0.009000	0.06853	0.414000	0.21164	0.700000	0.31782	0.655000	0.94253	GCC		0.478	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		4	194	0	0	0	1	0	4	194					A	74695298	G	A	74695298	3	1	171	1	0	0	0	0	1	0	0	0	13261	1203	42	3	2322	3	RFWD3	16	74695298	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08		74695298	15659455	12	3035										
APC2	10297	broad.mit.edu	37	chr19	1453055	1453055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgaggcaggtggaggccttgAaggctgagaacagccacctg	16	9	0	3			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr19:1453055A>G	ENST00000535453.1	+	1	1768	c.55A>G	c.(55-57)Aag>Gag	p.K19E	APC2_ENST00000233607.2_Missense_Mutation_p.K19E|APC2_ENST00000238483.4_Missense_Mutation_p.K19E			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCTTGAAGGCTGAGAA	0.622																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(55-57)Aag>Gag		adenomatosis polyposis coli 2							38	34	36					19																	1453055		2203	4300	6503	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1453055A>G		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.55A>G	19.37:g.1453055A>G	ENSP00000442954:p.Lys19Glu					APC2_ENST00000233607.2_Missense_Mutation_p.K19E|APC2_ENST00000238483.4_Missense_Mutation_p.K19E	p.K19E			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1768	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	19					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.55A>G	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230783	0.58777	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.20200	2.09;2.09;2.09	4.75	3.69	0.42338	.	0.236252	0.37348	N	0.002127	T	0.15219	0.0367	L	0.32530	0.975	0.19300	N	0.999972	B;B	0.33807	0.426;0.3	B;B	0.31101	0.124;0.058	T	0.13176	-1.0519	10	0.72032	D	0.01	-34.8656	9.4373	0.38646	0.8202:0.1798:0.0:0.0	.	19;19	O95996-3;O95996	.;APC2_HUMAN	E	19	ENSP00000233607:K19E;ENSP00000238483:K19E;ENSP00000442954:K19E	ENSP00000233607:K19E	K	+	1	0	APC2	1404055	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.074000	0.41529	0.623000	0.30267	0.379000	0.24179	AAG		0.622	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		4	5	0	0	0	1	0	4	5					G	1453055	A	G	1453055	3	3	171	1	0	0	0	0	1	0	0	0	764	247	9	4	57	4	APC2	19	1453055	Missense_Mutation	SNP	A	TCGA-WB-A81R-01A-11D-A35I-08		1453055	57675928	13	3036										
CSTL1	128817	broad.mit.edu	37	chr20	23420947	23420947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	accccctgctgctgctgattGccctggtcctgtcagccaag	10	16	1	1			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:23420947G>A	ENST00000246020.2	+	1	63	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000347397.1_Missense_Mutation_p.A15T			Q9H114	CST1L_HUMAN	cystatin-like 1	15						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GCTGCTGATTGCCCTGGTCCT	0.537																																						ENST00000347397.1																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14						c.(43-45)Gcc>Acc		cystatin-like 1							112	95	101					20																	23420947		2203	4300	6503	SO:0001583	missense	128817					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23420947G>A	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.43G>A	20.37:g.23420947G>A	ENSP00000246020:p.Ala15Thr					CSTL1_ENST00000246020.2_Missense_Mutation_p.A15T|CSTL1_ENST00000472140.1_3'UTR	p.A15T	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN			2	289	+	Colorectal(13;0.0993)|Lung NSC(19;0.235)		15					Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	c.43G>A	CCDS13153.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.554993	0.13436	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.11712	2.75;2.75	4.33	2.33	0.28932	.	0.584090	0.15544	N	0.256780	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.28082	0.2	B	0.28385	0.089	T	0.41324	-0.9515	10	0.21540	T	0.41	-3.0435	5.1787	0.15148	0.1045:0.0:0.692:0.2035	.	15	Q9H114	CST1L_HUMAN	T	15	ENSP00000344907:A15T;ENSP00000246020:A15T	ENSP00000246020:A15T	A	+	1	0	CSTL1	23368947	0.000000	0.05858	0.004000	0.12327	0.122000	0.20287	-0.078000	0.11375	0.732000	0.32470	0.655000	0.94253	GCC		0.537	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			17	30	0	0	0	1	0	17	30					A	23420947	G	A	23420947	3	1	171	1	0	0	0	0	1	0	0	0	3987	1319	46	3	45	3	CSTL1	20	23420947	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08		23420947	39604573	14	3037										
FAM83D	81610	broad.mit.edu	37	chr20	37580459	37580459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctggacccagagatgcccGcagagggcaaggcagagcgc	15	13	0	3			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:37580459G>A	ENST00000217429.4	+	4	1185	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	352					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATGCCCGCAGAGGGCAA	0.602																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1144-1146)Gca>Aca		family with sequence similarity 83, member D							50	56	54					20																	37580459		2065	4194	6259	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580459G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1144G>A	20.37:g.37580459G>A	ENSP00000217429:p.Ala382Thr						p.A382T	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1185	+		Myeloproliferative disorder(115;0.00878)	352					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1144G>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	6.313	0.425903	0.11987	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.12039	2.72	5.7	-7.64	0.01286	.	1.702460	0.02840	N	0.127853	T	0.10809	0.0264	L	0.54323	1.7	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26121	-1.0112	10	0.30078	T	0.28	.	2.9737	0.05930	0.3429:0.2534:0.3191:0.0847	.	352	Q9H4H8	FA83D_HUMAN	T	382;336	ENSP00000217429:A382T	ENSP00000217429:A382T	A	+	1	0	FAM83D	37013873	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-1.258000	0.02471	-1.224000	0.01588	GCA		0.602	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			3	37	0	0	0	1	0	3	37					A	37580459	G	A	37580459	3	1	171	1	0	0	0	0	1	0	0	0	5636	1087	38	1	1158	1	FAM83D	20	37580459	Missense_Mutation	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	14159512	37580459	25445061	15	3038										
DIDO1	11083	broad.mit.edu	37	chr20	61511023	61511023	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcctccagcggcttctctttGggccccacgtcaaaccgctc	8	18	2	0			TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr20:61511023G>T	ENST00000266070.4	-	16	6610	c.6285C>A	c.(6283-6285)ccC>ccA	p.P2095P	DIDO1_ENST00000395343.1_Silent_p.P2095P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2095					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTTCTCTTTGGGCCCCACGT	0.657																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6283-6285)ccC>ccA		death inducer-obliterator 1							88	103	98					20																	61511023		2185	4264	6449	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511023G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6285C>A	20.37:g.61511023G>T						DIDO1_ENST00000395343.1_Silent_p.P2095P	p.P2095P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6610	-	Breast(26;5.68e-08)		2095					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.6285C>A	CCDS33506.1																																																																																				0.657	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	191	1	0	0.0293803	1	0.0293803	5	191					T	61511023	G	T	61511023	2	4	171	1	0	0	0	0	0	0	0	1	4522	1335	47	5		5	DIDO1	20	61511023	Silent	SNP	G	TCGA-WB-A81R-01A-11D-A35I-08	23930564	61511023	1514497	16	3039										
TNRC6B	23112	broad.mit.edu	37	chr22	40658165	40658165	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	cgctgctgcagagtgagagtGggactgcgccaggtaaggca							TCGA-WB-A81R-01A-11D-A35I-08	TCGA-WB-A81R-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dde8da2-477b-4451-9961-e409f4d6cb95	faea5994-decf-47e9-a35b-7ab27a79168a	g.chr22:40658165delG	ENST00000454349.2	+	4	656	c.445delG	c.(445-447)gggfs	p.G149fs	TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000335727.9_Frame_Shift_Del_p.G149fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	149	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GAGTGAGAGTGGGACTGCGCC	0.567																																						ENST00000454349.2																			0				breast(1)	1						c.(445-447)ggfs		trinucleotide repeat containing 6B							24	27	26					22																	40658165		2139	4243	6382	SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40658165delG	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.445delG	22.37:g.40658165delG	ENSP00000401946:p.Gly149fs					TNRC6B_ENST00000335727.8_Frame_Shift_Del_p.G149fs|TNRC6B_ENST00000301923.9_Frame_Shift_Del_p.G185fs|TNRC6B_ENST00000402203.1_Frame_Shift_Del_p.G185fs	p.G149fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			4	656	+			149					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Del	DEL	ENST00000454349.2	37	c.445delG	CCDS54533.1																																																																																				0.567	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	40658165	G	-	40658165	7	5	171	1	0	1	0	1	0	0	0	0	16338	1348	47	0	580	0	TNRC6B	22	40658165	Frame_Shift_Del	DEL	G	TCGA-WB-A81R-01A-11D-A35I-08		40658165	10646401	17	3040										
TSGA10	80705	broad.mit.edu	37	chr2	99695278	99695278	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	ttttgccttgtaaagttatcTatgtatgcaatcataaaagt	6	5	2	0			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr2:99695278T>A	ENST00000393483.3	-	12	1572		c.e12-2		TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000478090.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TAAAGTTATCTATGTATGCAA	0.323																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.e12-2		testis specific, 10							71	69	70					2																	99695278		2203	4300	6503	SO:0001630	splice_region_variant	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99695278T>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.728-2A>T	2.37:g.99695278T>A						TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site		NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			12	1572	-								B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Splice_Site	SNP	ENST00000393483.3	37		CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	9.148	1.015664	0.19355	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2807	0.49192	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSGA10	99061710	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	4.597000	0.61062	2.159000	0.67721	0.383000	0.25322	.		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	Intron	6	29	0	0	0	1	0	6	29					A	99695278	T	A	99695278	5	1	172	1	0	0	0	0	0	0	1	0	16614	1536	53	5	1410	5	TSGA10	2	99695278	Splice_Site	SNP	T	TCGA-WB-A81S-01A-11D-A35I-08		99695278	143504095	1	3041										
P4HTM	54681	broad.mit.edu	37	chr3	49028318	49028318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	cgacagggatcacttcatccGaaccctcagcctcaagccgc	8	17	4	0			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr3:49028318G>A	ENST00000383729.4	+	2	778	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	RP13-131K19.2_ENST00000452042.1_RNA|P4HTM_ENST00000609406.1_3'UTR|P4HTM_ENST00000343546.4_Missense_Mutation_p.R136Q	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	136						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CACTTCATCCGAACCCTCAGC	0.642																																						ENST00000343546.4																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(406-408)cGa>cAa		prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	Vitamin C(DB00126)						76	51	59					3																	49028318		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49028318G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase"	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.407G>A	3.37:g.49028318G>A	ENSP00000373235:p.Arg136Gln					P4HTM_ENST00000383729.4_Missense_Mutation_p.R136Q|P4HTM_ENST00000468374.1_3'UTR	p.R136Q	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN			2	775	+			136					Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.407G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734122	0.69189	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.78481	-1.18	4.42	2.26	0.28386	EF-hand-like domain (1);	0.149689	0.42420	D	0.000703	T	0.76385	0.3980	L	0.43923	1.385	0.33187	D	0.55039	D;D	0.67145	0.996;0.957	P;B	0.56788	0.806;0.289	T	0.79500	-0.1778	10	0.62326	D	0.03	-5.9929	6.3088	0.21153	0.3697:0.0:0.6303:0.0	.	136;136	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	Q	136	ENSP00000373235:R136Q	ENSP00000341422:R136Q	R	+	2	0	P4HTM	49003322	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.659000	0.37387	0.861000	0.35504	0.462000	0.41574	CGA		0.642	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		5	13	0	0	0	1	0	5	13					A	49028318	G	A	49028318	3	1	172	1	0	0	0	0	1	0	0	0	11360	1058	37	2	413	2	P4HTM	3	49028318	Missense_Mutation	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		49028318	148994112	2	3042										
MAP1B	4131	broad.mit.edu	37	chr5	71492290	71492290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	agagaggaggaatatgagccGgaaaaaatggaagctgaaga	15	3	0	4	rs150527364		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr5:71492290G>A	ENST00000296755.7	+	5	3406	c.3108G>A	c.(3106-3108)ccG>ccA	p.P1036P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1036					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1036P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATATGAGCCGGAAAAAATGG	0.517																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			1	Substitution - coding silent(1)	p.P1036P(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3106-3108)ccG>ccA		microtubule-associated protein 1B		G		0,4406		0,0,2203	153	156	155		3108	-11.7	0	5	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MAP1B	NM_005909.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1036/2469	71492290	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492290G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3108G>A	5.37:g.71492290G>A							p.P1036P	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3406	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1036					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3108G>A	CCDS4012.1																																																																																				0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		3	50	0	0	0	1	0	3	50					A	71492290	G	A	71492290	2	1	172	1	0	0	0	0	0	0	0	1	9228	1103	39	2		2	MAP1B	5	71492290	Silent	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		71492290	109422970	3	3043										
LAMA4	3910	broad.mit.edu	37	chr6	112452193	112452193	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	gtgggtgagacagagctaatGacgaagtgggacagcccatc	15	8	0	3			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr6:112452193G>A	ENST00000230538.7	-	29	4342	c.3945C>T	c.(3943-3945)gtC>gtT	p.V1315V	LAMA4_ENST00000424408.2_Silent_p.V1308V|LAMA4_ENST00000522006.1_Silent_p.V1308V|LAMA4_ENST00000389463.4_Silent_p.V1308V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1315	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGAGCTAATGACGAAGTGGG	0.408																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(3943-3945)gtC>gtT		laminin, alpha 4							266	219	235					6																	112452193		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112452193G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3945C>T	6.37:g.112452193G>A						LAMA4_ENST00000389463.4_Silent_p.V1308V|LAMA4_ENST00000424408.2_Silent_p.V1308V|LAMA4_ENST00000522006.1_Silent_p.V1308V	p.V1315V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	29	4342	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1315			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.3945C>T	CCDS43491.1																																																																																				0.408	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	21	0	0	0	1	0	5	21					A	112452193	G	A	112452193	2	1	172	1	0	0	0	0	0	0	0	1	8608	1277	45	3		3	LAMA4	6	112452193	Silent	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		112452193	58662874	4	3044										
LPPR1	54886	broad.mit.edu	37	chr9	104075136	104075136	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	cgactggccaagccggtgctGtgcctcggaactctctgcac	12	15	1	0	rs144819698		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr9:104075136G>T	ENST00000374874.3	+	6	1132	c.693G>T	c.(691-693)ctG>ctT	p.L231L	LPPR1_ENST00000395056.2_Silent_p.L231L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		231					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										AGCCGGTGCTGTGCCTCGGAA	0.562																																						ENST00000374874.3																			0											c.(691-693)ctG>ctT									131	122	125					9																	104075136		2203	4300	6503	SO:0001819	synonymous_variant	54886					integral to membrane	catalytic activity	g.chr9:104075136G>T																												ENST00000374874.3:c.693G>T	9.37:g.104075136G>T						LPPR1_ENST00000395056.2_Silent_p.L231L	p.L231L	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN			6	1132	+			231					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.693G>T	CCDS6751.1																																																																																				0.562	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			4	74	1	0	0.00909568	1	0.00909568	4	74					T	104075136	G	T	104075136	2	4	172	1	0	0	0	0	0	0	0	1	8924	1364	48	5		5	LPPR1	9	104075136	Silent	SNP	G	TCGA-WB-A81S-01A-11D-A35I-08		104075136	37138295	5	3045										
MRPS2	51116	broad.mit.edu	37	chr9	138393756	138393756	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	cttcaatgtcaaggaactgtTttccgtgagaagcctcttcg	9	10	3	1	rs148092515		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr9:138393756T>G	ENST00000371785.1	+	4	445	c.236T>G	c.(235-237)tTt>tGt	p.F79C	MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|C9orf116_ENST00000371789.3_5'Flank|C9orf116_ENST00000429260.2_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	79					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AAGGAACTGTTTTCCGTGAGA	0.567																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(235-237)tTt>tGt		mitochondrial ribosomal protein S2							112	103	106					9																	138393756		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138393756T>G	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.236T>G	9.37:g.138393756T>G	ENSP00000360850:p.Phe79Cys					MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|MRPS2_ENST00000488610.1_3'UTR	p.F79C			Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	4	445	+			79					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.236T>G	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359438	0.82353	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.35973	1.71;1.71;1.28	4.91	4.91	0.64330	.	0.102387	0.64402	D	0.000002	T	0.59838	0.2223	M	0.75085	2.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.65092	-0.6252	10	0.87932	D	0	-8.6129	13.7366	0.62821	0.0:0.0:0.0:1.0	.	79	Q9Y399	RT02_HUMAN	C	79;79;93	ENSP00000360850:F79C;ENSP00000241600:F79C;ENSP00000400082:F93C	ENSP00000241600:F79C	F	+	2	0	MRPS2	137533577	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.213000	0.77950	1.822000	0.53115	0.533000	0.62120	TTT		0.567	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			12	69	0	0	0	1	0	12	69					G	138393756	T	G	138393756	3	3	172	1	0	0	0	0	1	0	0	0	9831	1841	64	5	246	5	MRPS2	9	138393756	Missense_Mutation	SNP	T	TCGA-WB-A81S-01A-11D-A35I-08	34318620	138393756	2819675	6	3046										
BIRC3	330	broad.mit.edu	37	chr11	102195247	102195247	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	ccattcatttcattatgaacAtagtagaaaacagcatattc	4	8	2	2			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr11:102195247A>G	ENST00000263464.3	+	2	2757	c.7A>G	c.(7-9)Ata>Gta	p.I3V	BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	3					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CATTATGAACATAGTAGAAAA	0.373			T	MALT1	MALT																																	ENST00000263464.3				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21						c.(7-9)Ata>Gta		baculoviral IAP repeat containing 3							89	85	86					11																	102195247		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195247A>G	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.7A>G	11.37:g.102195247A>G	ENSP00000263464:p.Ile3Val					BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V	p.I3V	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	2	2757	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	3					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.7A>G	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	A	8.673	0.903390	0.17760	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.20738	2.05;2.05	6.06	0.494	0.16884	.	0.427868	0.28284	N	0.015908	T	0.09335	0.0230	N	0.16478	0.41	0.28037	N	0.933906	B	0.09022	0.002	B	0.09377	0.004	T	0.13150	-1.0520	10	0.35671	T	0.21	.	2.8115	0.05443	0.6015:0.1186:0.1653:0.1145	.	3	Q13489	BIRC3_HUMAN	V	3	ENSP00000263464:I3V;ENSP00000432907:I3V	ENSP00000263464:I3V	I	+	1	0	BIRC3	101700457	0.630000	0.27155	0.936000	0.37596	0.468000	0.32798	0.505000	0.22642	0.514000	0.28300	0.533000	0.62120	ATA		0.373	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		9	20	0	0	0	1	0	9	20					G	102195247	A	G	102195247	3	3	172	1	0	0	0	0	1	0	0	0	1436	217	8	4	9	4	BIRC3	11	102195247	Missense_Mutation	SNP	A	TCGA-WB-A81S-01A-11D-A35I-08		102195247	32811269	7	3047										
MLL	4297	broad.mit.edu	37	chr11	118376687	118376687	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	acccctacaagtagtgcgtcAgttccaggacacgtcacctt	8	14	2	0			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr11:118376687A>C	ENST00000389506.5	+	27	10071	c.10071A>C	c.(10069-10071)tcA>tcC	p.S3357S	KMT2A_ENST00000354520.4_Silent_p.S3319S|KMT2A_ENST00000534358.1_Silent_p.S3360S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3357					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTAGTGCGTCAGTTCCAGGAC	0.493																																						ENST00000534358.1																			0											c.(10078-10080)tcA>tcC		lysine (K)-specific methyltransferase 2A							200	199	199					11																	118376687		2200	4295	6495	SO:0001819	synonymous_variant	4297							g.chr11:118376687A>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10071A>C	11.37:g.118376687A>C						KMT2A_ENST00000389506.5_Silent_p.S3357S|KMT2A_ENST00000354520.4_Silent_p.S3319S	p.S3360S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	10103	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.10080A>C	CCDS31686.1																																																																																				0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		27	53	0	0	0	1	0	27	53					C	118376687	A	C	118376687	2	2	172	1	0	0	0	0	0	0	0	1	9620	175	7	5		5	MLL	11	118376687	Silent	SNP	A	TCGA-WB-A81S-01A-11D-A35I-08	16181440	118376687	16629829	8	3048										
STOML3	161003	broad.mit.edu	37	chr13	39544453	39544453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	atcgttgacattagccactgCtgagacagcactatagattc	8	10	0	3			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr13:39544453C>T	ENST00000379631.4	-	5	729	c.385G>A	c.(385-387)Gca>Aca	p.A129T	STOML3_ENST00000423210.1_Missense_Mutation_p.A120T	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	129					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTAGCCACTGCTGAGACAGCA	0.458																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(385-387)Gca>Aca		stomatin (EPB72)-like 3							175	166	169					13																	39544453		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39544453C>T	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.385G>A	13.37:g.39544453C>T	ENSP00000368952:p.Ala129Thr					STOML3_ENST00000423210.1_Missense_Mutation_p.A120T	p.A129T	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	5	729	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	129					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.385G>A	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626208	0.87560	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.95035	-3.59;-3.59	5.75	5.75	0.90469	.	0.048500	0.85682	D	0.000000	D	0.97514	0.9186	M	0.88704	2.975	0.58432	D	0.999995	D;D	0.55605	0.972;0.972	D;D	0.62955	0.909;0.909	D	0.97907	1.0306	10	0.72032	D	0.01	-15.3997	18.5072	0.90901	0.0:1.0:0.0:0.0	.	120;129	B4E285;Q8TAV4	.;STML3_HUMAN	T	129;120	ENSP00000368952:A129T;ENSP00000401989:A120T	ENSP00000368952:A129T	A	-	1	0	STOML3	38442453	0.998000	0.40836	0.446000	0.26920	0.896000	0.52359	3.978000	0.56881	2.710000	0.92621	0.563000	0.77884	GCA		0.458	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			5	121	0	0	0	1	0	5	121					T	39544453	C	T	39544453	3	4	172	1	0	0	0	0	1	0	0	0	15314	797	28	3	502	3	STOML3	13	39544453	Missense_Mutation	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		39544453	75625425	9	3049										
ANPEP	290	broad.mit.edu	37	chr15	90335438	90335438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	caggccagggctgcccggagCttgtcagcctcattgaccag	13	14	2	1			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr15:90335438C>T	ENST00000300060.6	-	18	2794	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	827	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CTGCCCGGAGCTTGTCAGCCT	0.627																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(2479-2481)aaG>aaA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						102	95	98					15																	90335438		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90335438C>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"CD molecules"	500	protein-coding gene	gene with protein product	"aminopeptidase N", "aminopeptidase M", "microsomal aminopeptidase"	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2481G>A	15.37:g.90335438C>T							p.K827K	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		18	2794	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		827			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.2481G>A	CCDS10356.1																																																																																				0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			14	52	0	0	0	1	0	14	52					T	90335438	C	T	90335438	2	4	172	1	0	0	0	0	0	0	0	1	710	796	28	3		3	ANPEP	15	90335438	Silent	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		90335438	12195954	10	3050										
PKD1L2	114780	broad.mit.edu	37	chr16	81253679	81253679	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	cgatcacggcacctaccctcCgtggttccattccgtgccaa	8	17	1	0			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr16:81253679C>A	ENST00000525539.1	-	0	296				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCTACCCTCCGTGGTTCCAT	0.488																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(295-297)acG>acT		polycystic kidney disease 1-like 2							87	84	85					16																	81253679		2008	4162	6170			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81253679C>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253679C>A						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.T99T			Q7Z442	PK1L2_HUMAN			1	296	-			99			C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.297G>T																																																																																					0.488	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			11	39	1	0	9.05144e-12	1	1.0444e-11	11	39					A	81253679	C	A	81253679	1	1	172	0	1	0	0	0	0	0	0	0	11965	639	23	5		5	PKD1L2	16	81253679	RNA	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		81253679	9101074	11	3051										
GGT6	124975	broad.mit.edu	37	chr17	4461978	4461978	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	cagtagactcagtagagcatCcccagcaaggtctgaggtgg					rs373876908		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr17:4461978delC	ENST00000574154.1	-	4	1110	c.814delG	c.(814-816)gatfs	p.D272fs	GGT6_ENST00000381550.3_Frame_Shift_Del_p.D278fs|GGT6_ENST00000573591.1_Frame_Shift_Del_p.D124fs|GGT6_ENST00000301395.3_Frame_Shift_Del_p.D240fs			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	272					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTAGAGCATCCCCAGCAAGG	0.667																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(718-720)atfs		gamma-glutamyltransferase 6							30	30	30					17																	4461978		2202	4299	6501	SO:0001589	frameshift_variant	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4461978delC	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"Gamma-glutamyltransferases"	26891	protein-coding gene	gene with protein product		612341	"gamma-glutamyltransferase 6 homolog (rat)"			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.814delG	17.37:g.4461978delC	ENSP00000458307:p.Asp272fs					GGT6_ENST00000574154.1_Frame_Shift_Del_p.D272fs|GGT6_ENST00000381550.3_Frame_Shift_Del_p.D278fs|GGT6_ENST00000573591.1_Frame_Shift_Del_p.D124fs	p.D240fs	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			3	777	-			272					B4DUH4|Q8NCM0	Frame_Shift_Del	DEL	ENST00000574154.1	37	c.718delG	CCDS45582.1																																																																																				0.667	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		2	4						2	4	---	---	---	---	-	4461978	C	-	4461978	7	5	172	1	0	1	0	1	0	0	0	0	6363	855	30	0	671	0	GGT6	17	4461978	Frame_Shift_Del	DEL	C	TCGA-WB-A81S-01A-11D-A35I-08		4461978	76733232	12	3052										
ZNF569	148266	broad.mit.edu	37	chr19	37904427	37904427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	tacattcatagggtttttcaCctgtatgaattctaacatgt	6	7	3	1			TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr19:37904427C>T	ENST00000316950.6	-	6	1690	c.1133G>A	c.(1132-1134)gGt>gAt	p.G378D	ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D|ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTTTCACCTGTATGAAT	0.368																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1132-1134)gGt>gAt		zinc finger protein 569							74	73	73					19																	37904427		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904427C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1133G>A	19.37:g.37904427C>T	ENSP00000325018:p.Gly378Asp					ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D|ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D	p.G378D	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1690	-			378					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1133G>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008006	0.75046	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.26660	1.72;1.72	4.12	4.12	0.48240	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38492	N	0.001666	T	0.45397	0.1340	L	0.52364	1.645	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46884	-0.9159	10	0.87932	D	0	.	15.6322	0.76920	0.0:1.0:0.0:0.0	.	219;378	Q17RR6;Q5MCW4	.;ZN569_HUMAN	D	378;34;219	ENSP00000325018:G378D;ENSP00000375993:G219D	ENSP00000325018:G378D	G	-	2	0	ZNF569	42596267	0.990000	0.36364	0.999000	0.59377	0.998000	0.95712	3.740000	0.55082	2.285000	0.76669	0.655000	0.94253	GGT		0.368	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		25	61	0	0	0	1	0	25	61					T	37904427	C	T	37904427	3	4	172	1	0	0	0	0	1	0	0	0	17997	507	18	3	931	3	ZNF569	19	37904427	Missense_Mutation	SNP	C	TCGA-WB-A81S-01A-11D-A35I-08		37904427	21224556	13	3053										
EML2	24139	broad.mit.edu	37	chr19	46120071	46120071	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	1	1	1.11965811965812	NA	1.11965811965812	1	1	0	ttcattgccgtctgtgtggaTagccaccaggtcatgggtct	12	10	4	0	rs371846195		TCGA-WB-A81S-01A-11D-A35I-08	TCGA-WB-A81S-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64bff8a-a1fc-43a6-b127-c48ce4b97fb3	7f750dc8-a5e7-4ed1-8248-d66f3a6c7629	g.chr19:46120071T>C	ENST00000245925.3	-	14	1413	c.1363A>G	c.(1363-1365)Atc>Gtc	p.I455V	EML2_ENST00000587152.1_Missense_Mutation_p.I656V|EML2_ENST00000536630.1_Missense_Mutation_p.I602V|EML2_ENST00000589876.1_Missense_Mutation_p.I455V	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	455	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCTGTGTGGATAGCCACCAGG	0.632																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1804-1806)Atc>Gtc		echinoderm microtubule associated protein like 2			VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	98	77	84		1363,1804,1966	4.7	1	19		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	EML2	NM_012155.2,NM_001193269.1,NM_001193268.1	29,29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	455/650,602/797,656/851	46120071	1,13005	2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46120071T>C	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1363A>G	19.37:g.46120071T>C	ENSP00000245925:p.Ile455Val					EML2_ENST00000589876.1_Missense_Mutation_p.I455V|EML2_ENST00000587152.1_Missense_Mutation_p.I656V|EML2_ENST00000245925.3_Missense_Mutation_p.I455V	p.I602V	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	17	1942	-		Ovarian(192;0.179)|all_neural(266;0.224)	455					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1804A>G	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	T	6.264	0.416757	0.11870	0.0	1.16E-4	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.58652	0.32;0.32	4.73	4.73	0.59995	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.168257	0.52532	D	0.000075	T	0.27933	0.0688	N	0.03154	-0.405	0.27658	N	0.947167	B;B;B	0.31256	0.005;0.316;0.005	B;B;B	0.28385	0.01;0.089;0.015	T	0.12400	-1.0549	10	0.20046	T	0.44	-30.049	6.9427	0.24502	0.0:0.1005:0.0:0.8995	.	621;602;455	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	V	602;455;613	ENSP00000442365:I602V;ENSP00000245925:I455V	ENSP00000245925:I455V	I	-	1	0	EML2	50811911	0.980000	0.34600	1.000000	0.80357	0.984000	0.73092	1.401000	0.34589	1.994000	0.58287	0.379000	0.24179	ATC		0.632	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	17	0	0	0	1	0	3	17					C	46120071	T	C	46120071	3	2	172	1	0	0	0	0	1	0	0	0	5097	1406	49	4	610	4	EML2	19	46120071	Missense_Mutation	SNP	T	TCGA-WB-A81S-01A-11D-A35I-08	8215644	46120071	13008912	14	3054										
EYA3	2140	broad.mit.edu	37	chr1	28320051	28320051	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctcctgagccactgaaaccaTctgttgagaaactgtagttg	9	10	1	3			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr1:28320051T>A	ENST00000373871.3	-	14	1403	c.1163A>T	c.(1162-1164)gAt>gTt	p.D388V	EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V|EYA3_ENST00000373863.3_Missense_Mutation_p.D342V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	388				D -> N (in Ref. 1; CAA71311). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		ACTGAAACCATCTGTTGAGAA	0.428																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1162-1164)gAt>gTt		eyes absent homolog 3 (Drosophila)							70	66	68					1																	28320051		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28320051T>A	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1163A>T	1.37:g.28320051T>A	ENSP00000362978:p.Asp388Val					EYA3_ENST00000373863.3_Missense_Mutation_p.D342V|EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V	p.D388V			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	14	1403	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	388	D -> N (in Ref. 1; CAA71311).				A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.1163A>T	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640166	0.87760	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.94138	-1.58;-1.58;-1.58;-3.32;-3.36;-3.26	5.78	5.78	0.91487	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.96445	0.8840	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.994;0.998;0.999	D	0.96928	0.9679	10	0.87932	D	0	-16.6893	16.1041	0.81209	0.0:0.0:0.0:1.0	.	342;342;388	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	V	388;262;231;342;335;342	ENSP00000362978:D388V;ENSP00000405587:D262V;ENSP00000362971:D231V;ENSP00000442558:D342V;ENSP00000442280:D335V;ENSP00000362970:D342V	ENSP00000362970:D342V	D	-	2	0	EYA3	28192638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.988000	0.88194	2.216000	0.71823	0.454000	0.30748	GAT		0.428	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		24	22	0	0	0	1	0	24	22					A	28320051	T	A	28320051	3	1	173	1	0	0	0	0	1	0	0	0	5330	1435	50	5	578	5	EYA3	1	28320051	Missense_Mutation	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		28320051	220930570	1	3055										
BZW1	9689	broad.mit.edu	37	chr2	201686894	201686894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tgaatctgaagctgaagaagGtgactgaattttgaaactac	10	5	1	7			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr2:201686894G>T	ENST00000409600.1	+	12	1708	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	RP11-469M7.1_ENST00000568571.1_lincRNA|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V|BZW1_ENST00000409226.1_Missense_Mutation_p.G422V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GCTGAAGAAGGTGACTGAATT	0.373																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(1252-1254)gGt>gTt		basic leucine zipper and W2 domains 1							85	75	78					2																	201686894		1829	4079	5908	SO:0001583	missense	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201686894G>T	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1253G>T	2.37:g.201686894G>T	ENSP00000386474:p.Gly418Val					BZW1_ENST00000409226.1_Missense_Mutation_p.G422V|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V	p.G418V	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			12	1708	+			418					B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	c.1253G>T	CCDS56156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351933|3.351933	0.61183|0.61183	.|.	.|.	ENSG00000082153|ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790|ENST00000359893	T;T;T|.	0.78126|.	-1.1;-1.11;-1.15|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	0.245554|.	0.41605|.	D|.	0.000847|.	T|T	0.54806|0.54806	0.1881|0.1881	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B;D|.	0.76494|.	0.32;0.999|.	B;D|.	0.71184|.	0.14;0.972|.	T|T	0.49698|0.49698	-0.8912|-0.8912	10|5	0.87932|.	D|.	0|.	-1.2981|-1.2981	18.3529|18.3529	0.90344|0.90344	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	450;418|.	B4DLZ8;Q7L1Q6|.	.;BZW1_HUMAN|.	V|L	418;422;450|134	ENSP00000386474:G418V;ENSP00000386837:G422V;ENSP00000394316:G450V|.	ENSP00000386837:G422V|.	G|V	+|+	2|1	0|0	BZW1|BZW1	201395139|201395139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	5.759000|5.759000	0.68785|0.68785	2.639000|2.639000	0.89480|0.89480	0.460000|0.460000	0.39030|0.39030	GGT|GTG		0.373	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		4	18	1	0	1.23904e-05	1	1.27081e-05	4	18					T	201686894	G	T	201686894	3	4	173	1	0	0	0	0	1	0	0	0	1578	1261	44	5	1097	5	BZW1	2	201686894	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		201686894	41512479	2	3056										
ZNF148	7707	broad.mit.edu	37	chr3	125032328	125032328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agcaaggatctcctggtgagGcatacttcgatcttgaagta	11	8	2	2			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr3:125032328G>A	ENST00000360647.4	-	4	642	c.157C>T	c.(157-159)Cct>Tct	p.P53S	ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	53					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCCTGGTGAGGCATACTTCGA	0.453																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(157-159)Cct>Tct		zinc finger protein 148							279	240	253					3																	125032328		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:125032328G>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.157C>T	3.37:g.125032328G>A	ENSP00000353863:p.Pro53Ser					ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S|ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron	p.P53S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			4	642	-			53					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.157C>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323898	0.24080	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574;ENST00000465763;ENST00000495019	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.0	5.0	0.66597	.	0.246709	0.40064	N	0.001200	T	0.07007	0.0178	N	0.14661	0.345	0.80722	D	1	B	0.18741	0.03	B	0.23018	0.043	T	0.30268	-0.9984	10	0.62326	D	0.03	-13.2603	15.5613	0.76249	0.0:0.2033:0.7967:0.0	.	53	Q9UQR1	ZN148_HUMAN	S	53	ENSP00000353863:P53S;ENSP00000420335:P53S;ENSP00000419322:P53S;ENSP00000420448:P53S	ENSP00000353863:P53S	P	-	1	0	ZNF148	126515018	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.714000	0.54889	2.582000	0.87167	0.650000	0.86243	CCT		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		4	76	0	0	0	1	0	4	76					A	125032328	G	A	125032328	3	1	173	1	0	0	0	0	1	0	0	0	17731	1203	42	3	2251	3	ZNF148	3	125032328	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		125032328	72990102	3	3057										
CCDC90A	63933	broad.mit.edu	37	chr6	13794127	13794127	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	tcacagtcttgtttcttaccAatgccactatttctgttctc	4	12	5	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:13794127A>G	ENST00000379170.4	-	7	1046	c.908T>C	c.(907-909)tTg>tCg	p.L303S		NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	303					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)											GTTTCTTACCAATGCCACTAT	0.373																																						ENST00000379170.4																			0											c.e7+1		mitochondrial calcium uniporter regulator 1							199	175	183					6																	13794127		2202	4299	6501	SO:0001630	splice_region_variant	63933							g.chr6:13794127A>G	BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 79", "coiled-coil domain containing 90A"	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.909+1T>C	6.37:g.13794127A>G							p.L303_splice	NM_001031713.3	NP_001026883.1					7	1046	-								Q96JS7|Q9H7F8	Splice_Site	SNP	ENST00000379170.4	37	c.909_splice	CCDS35495.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568903	0.45798	.	.	ENSG00000050393	ENST00000379170	T	0.36520	1.25	4.94	4.94	0.65067	.	0.495359	0.20954	N	0.082700	T	0.21590	0.0520	M	0.63428	1.95	0.80722	D	1	B	0.14438	0.01	B	0.15870	0.014	T	0.05632	-1.0873	10	0.26408	T	0.33	-0.675	13.925	0.63958	1.0:0.0:0.0:0.0	.	303	Q96AQ8	CC90A_HUMAN	S	303	ENSP00000368468:L303S	ENSP00000368468:L303S	L	-	2	0	CCDC90A	13902106	1.000000	0.71417	0.940000	0.37924	0.976000	0.68499	7.026000	0.76455	1.982000	0.57802	0.529000	0.55759	TTG		0.373	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102	Missense_Mutation	11	31	0	0	0	1	0	11	31					G	13794127	A	G	13794127	5	3	173	1	0	0	0	0	0	0	1	0	2868	144	5	4	183	4	CCDC90A	6	13794127	Splice_Site	SNP	A	TCGA-WB-A81T-01A-11D-A35I-08		13794127	157320940	4	3058										
HSPA1L	3305	broad.mit.edu	37	chr6	31779452	31779452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaggactttgggcttgcctcCttcattaatcacttgaaaag	8	9	2	1			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:31779452C>T	ENST00000375654.4	-	2	487	c.298G>A	c.(298-300)Gga>Aga	p.G100R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	100					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCTTGCCTCCTTCATTAATC	0.413																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(298-300)Gga>Aga		heat shock 70kDa protein 1-like							112	112	112					6																	31779452		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779452C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.298G>A	6.37:g.31779452C>T	ENSP00000364805:p.Gly100Arg					HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R	p.G100R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	487	-			100					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.298G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450430	0.43531	.	.	ENSG00000204390	ENST00000375654;ENST00000417199	T;T	0.03982	3.74;3.74	4.36	4.36	0.52297	.	.	.	.	.	T	0.04048	0.0113	M	0.69463	2.115	0.54753	D	0.999984	B	0.11235	0.004	B	0.16289	0.015	T	0.08351	-1.0726	9	0.87932	D	0	.	14.4415	0.67321	0.0:1.0:0.0:0.0	.	100	P34931	HS71L_HUMAN	R	100	ENSP00000364805:G100R;ENSP00000387691:G100R	ENSP00000364805:G100R	G	-	1	0	HSPA1L	31887431	0.004000	0.15560	0.981000	0.43875	0.932000	0.56968	2.103000	0.41806	2.239000	0.73571	0.460000	0.39030	GGA		0.413	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	121	0	0	0	1	0	4	121					T	31779452	C	T	31779452	3	4	173	1	0	0	0	0	1	0	0	0	7410	690	24	3	1631	3	HSPA1L	6	31779452	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08	17985325	31779452	139335615	5	3059										
TFAP2D	83741	broad.mit.edu	37	chr6	50683256	50683256	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ccatggctctcagtatggaaTgcacccagatcaaagactcc	8	13	2	2			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:50683256T>A	ENST00000008391.3	+	2	695	c.467T>A	c.(466-468)aTg>aAg	p.M156K		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGTATGGAATGCACCCAGAT	0.617																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(466-468)aTg>aAg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							59	65	63					6																	50683256		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683256T>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.467T>A	6.37:g.50683256T>A	ENSP00000008391:p.Met156Lys						p.M156K	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	695	+	Lung NSC(77;0.0334)		156						Missense_Mutation	SNP	ENST00000008391.3	37	c.467T>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795143	0.70452	.	.	ENSG00000008197	ENST00000008391	D	0.97089	-4.24	5.06	5.06	0.68205	.	0.091627	0.64402	D	0.000001	D	0.88340	0.6410	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	D	0.85012	0.0906	10	0.39692	T	0.17	-14.3432	15.1213	0.72443	0.0:0.0:0.0:1.0	.	156	Q7Z6R9	AP2D_HUMAN	K	156	ENSP00000008391:M156K	ENSP00000008391:M156K	M	+	2	0	TFAP2D	50791215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.766000	0.85320	2.031000	0.59945	0.533000	0.62120	ATG		0.617	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		49	53	0	0	0	1	0	49	53					A	50683256	T	A	50683256	3	1	173	1	0	0	0	0	1	0	0	0	15787	1464	51	5	473	5	TFAP2D	6	50683256	Missense_Mutation	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08	18903804	50683256	120431811	6	3060										
GABRR1	2569	broad.mit.edu	37	chr6	89926980	89926980	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agtgcattctgctttcagtgGccaaaacccatccccaccac	6	16	2	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr6:89926980G>A	ENST00000454853.2	-	1	172	c.62C>T	c.(61-63)gCc>gTc	p.A21V	GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000435811.1_Missense_Mutation_p.A21V	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	21					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GCTTTCAGTGGCCAAAACCCA	0.463																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.(61-63)gCc>gTc		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						90	77	82					6																	89926980		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89926980G>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.62C>T	6.37:g.89926980G>A	ENSP00000412673:p.Ala21Val					GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000454853.2_Missense_Mutation_p.A21V	p.A21V	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	1	516	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	21					A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.62C>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578032	0.45902	.	.	ENSG00000146276	ENST00000454853;ENST00000435811	T;T	0.40225	1.04;1.04	5.75	0.853	0.19001	.	0.752976	0.12053	N	0.503913	T	0.08537	0.0212	N	0.24115	0.695	0.23903	N	0.996517	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37361	-0.9709	9	.	.	.	-1.6306	4.7953	0.13269	0.2048:0.0:0.5362:0.259	.	21;21	P24046-2;P24046	.;GBRR1_HUMAN	V	21	ENSP00000412673:A21V;ENSP00000394687:A21V	.	A	-	2	0	GABRR1	89983699	0.998000	0.40836	0.200000	0.23457	0.991000	0.79684	1.407000	0.34657	-0.133000	0.11537	-0.188000	0.12872	GCC		0.463	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			3	34	0	0	0	1	0	3	34					A	89926980	G	A	89926980	3	1	173	1	0	0	0	0	1	0	0	0	6176	1203	42	3	1417	3	GABRR1	6	89926980	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08	39243724	89926980	81188087	7	3061										
MGAM	8972	broad.mit.edu	37	chr7	141730215	141730215	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gagagaagggacttcacttaTgattcagtggattttaaagg	12	4	2	2			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr7:141730215T>C	ENST00000549489.2	+	11	1370	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	MGAM_ENST00000475668.2_Silent_p.Y425Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	425	Maltase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTCACTTATGATTCAGTGG	0.383																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1273-1275)taT>taC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						114	100	104					7																	141730215		1852	4101	5953	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.chr7:141730215T>C	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.1275T>C	7.37:g.141730215T>C						MGAM_ENST00000549489.2_Silent_p.Y425Y	p.Y425Y			O43451	MGA_HUMAN			11	1329	+	Melanoma(164;0.0272)		425			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.1275T>C	CCDS47727.1																																																																																				0.383	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			18	17	0	0	0	1	0	18	17					C	141730215	T	C	141730215	2	2	173	1	0	0	0	0	0	0	0	1	9541	1471	51	4		4	MGAM	7	141730215	Silent	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		141730215	17408448	8	3062										
USP17L2	377630	broad.mit.edu	37	chr8	11995945	11995945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgagagtgctcccgggacaGcatgtagttggcaaggggcg	17	8	0	1			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr8:11995945G>A	ENST00000333796.3	-	1	641	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	109	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCCCGGGACAGCATGTAGTTG	0.567																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(325-327)Ctg>Ttg		ubiquitin specific peptidase 17-like family member 2							24	27	26					8																	11995945		1192	2523	3715	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995945G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.325C>T	8.37:g.11995945G>A						FAM66D_ENST00000434078.2_RNA	p.L109L	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	641	-			109						Silent	SNP	ENST00000333796.3	37	c.325C>T	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		17	41	0	0	0	1	0	17	41					A	11995945	G	A	11995945	2	1	173	1	0	0	0	0	0	0	0	1	17045	962	34	3		3	USP17L2	8	11995945	Silent	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		11995945	134368077	9	3063										
VPS37A	137492	broad.mit.edu	37	chr8	17123483	17123483	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	taaacaacctgacaattaacAttaatatgtgagtagaattg	6	5	0	3			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr8:17123483A>G	ENST00000324849.4	+	2	867	c.193A>G	c.(193-195)Att>Gtt	p.I65V	VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	65					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GACAATTAACATTAATATGTG	0.284																																						ENST00000324849.4																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(193-195)Att>Gtt		vacuolar protein sorting 37 homolog A (S. cerevisiae)							95	96	96					8																	17123483		2203	4295	6498	SO:0001583	missense	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17123483A>G		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"hepatocellular carcinoma related protein 1"	609927	"vacuolar protein sorting 37A (yeast)", "polyglutamine binding protein 2"	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.193A>G	8.37:g.17123483A>G	ENSP00000318629:p.Ile65Val					VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V	p.I65V	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	2	867	+			65					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	ENST00000324849.4	37	c.193A>G	CCDS6001.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282261	0.40394	.	.	ENSG00000155975	ENST00000324849;ENST00000324815	T	0.56103	0.48	4.77	4.77	0.60923	Ubiquitin-conjugating enzyme/RWD-like (2);	0.050743	0.85682	D	0.000000	T	0.37705	0.1013	N	0.16656	0.425	0.38679	D	0.952493	B	0.21753	0.06	B	0.12837	0.008	T	0.31336	-0.9947	10	0.42905	T	0.14	-20.1891	14.9938	0.71415	1.0:0.0:0.0:0.0	.	65	Q8NEZ2	VP37A_HUMAN	V	65	ENSP00000318629:I65V	ENSP00000318173:I65V	I	+	1	0	VPS37A	17167854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	2.084000	0.62774	0.528000	0.53228	ATT		0.284	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		10	72	0	0	0	1	0	10	72					G	17123483	A	G	17123483	3	3	173	1	0	0	0	0	1	0	0	0	17202	217	8	4	199	4	VPS37A	8	17123483	Missense_Mutation	SNP	A	TCGA-WB-A81T-01A-11D-A35I-08	5127538	17123483	129240539	10	3064										
TPM2	7169	broad.mit.edu	37	chr9	35683161	35683161	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	NA	0	1	1	0	acgctggcgtggggctcagaGggaggtgatgtcattgagtg							TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr9:35683161delG	ENST00000360958.2	-	9	954	c.850delC	c.(850-852)ctcfs	p.L284fs	TPM2_ENST00000378292.3_Intron|TPM2_ENST00000378300.5_Intron|TPM2_ENST00000329305.2_Intron	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	284					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGCTCAGAGGGAGGTGATG	0.577																																						ENST00000360958.2																			0				NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(850-852)tcfs		tropomyosin 2 (beta)							229	158	182					9																	35683161		2192	4267	6459	SO:0001589	frameshift_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35683161delG		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.850delC	9.37:g.35683161delG	ENSP00000354219:p.Leu284fs					TPM2_ENST00000378292.3_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron	p.L284fs	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	954	-	all_epithelial(49;0.121)		284					A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Frame_Shift_Del	DEL	ENST00000360958.2	37	c.850delC	CCDS6587.1																																																																																				0.577	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		2	4						2	4	---	---	---	---	-	35683161	G	-	35683161	7	5	173	1	0	1	0	1	0	0	0	0	16403	1000	35	0	95	0	TPM2	9	35683161	Frame_Shift_Del	DEL	G	TCGA-WB-A81T-01A-11D-A35I-08		35683161	105530270	11	3065										
DAB2IP	153090	broad.mit.edu	37	chr9	124530814	124530814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agatctccaaccccgagaccCtctccaatacagccggcttc	6	18	2	2			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr9:124530814C>T	ENST00000408936.3	+	10	1983	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DAB2IP_ENST00000309989.1_Missense_Mutation_p.L477F|DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	601					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCCGAGACCCTCTCCAATAC	0.597																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1801-1803)Ctc>Ttc		DAB2 interacting protein							108	102	104					9																	124530814		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124530814C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1801C>T	9.37:g.124530814C>T	ENSP00000386183:p.Leu601Phe					DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F|DAB2IP_ENST00000309989.1_Missense_Mutation_p.L477F	p.L601F			Q5VWQ8	DAB2P_HUMAN			10	1983	+			601					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1801C>T		.	.	.	.	.	.	.	.	.	.	C	17.37	3.373381	0.61624	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.82	-4.47	0.03525	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.278726	0.39759	N	0.001263	T	0.18882	0.0453	L	0.50333	1.59	0.31689	N	0.642167	P;D	0.53745	0.682;0.962	B;P	0.53518	0.204;0.728	T	0.09100	-1.0690	10	0.51188	T	0.08	.	6.7775	0.23628	0.3797:0.4083:0.212:0.0	.	601;573	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	F	573;601;510;477	ENSP00000259371:L573F;ENSP00000386183:L601F;ENSP00000362887:L510F;ENSP00000310827:L477F	ENSP00000259371:L573F	L	+	1	0	DAB2IP	123570635	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	1.663000	0.37429	-1.090000	0.03069	-0.319000	0.08680	CTC		0.597	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		68	33	0	0	0	1	0	68	33					T	124530814	C	T	124530814	3	4	173	1	0	0	0	0	1	0	0	0	4219	681	24	3	1755	3	DAB2IP	9	124530814	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08	88847653	124530814	16682617	12	3066										
ANK3	288	broad.mit.edu	37	chr10	61829127	61829127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ctgcttatctcttacacagtGtccttgtagtacccctgtct	6	13	2	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:61829127G>A	ENST00000280772.2	-	37	11703	c.11512C>T	c.(11512-11514)Cac>Tac	p.H3838Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3838					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTACACAGTGTCCTTGTAGT	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11512-11514)Cac>Tac		ankyrin 3, node of Ranvier (ankyrin G)							261	259	259					10																	61829127		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829127G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11512C>T	10.37:g.61829127G>A	ENSP00000280772:p.His3838Tyr					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.H3838Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	11703	-			3838					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11512C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224436	0.22457	.	.	ENSG00000151150	ENST00000280772	T	0.41400	1.0	5.07	5.07	0.68467	.	0.159293	0.29403	N	0.012246	T	0.30135	0.0755	N	0.19112	0.55	0.80722	D	1	B	0.32573	0.376	B	0.21917	0.037	T	0.16394	-1.0404	10	0.56958	D	0.05	.	18.8003	0.92013	0.0:0.0:1.0:0.0	.	3838	Q12955	ANK3_HUMAN	Y	3838	ENSP00000280772:H3838Y	ENSP00000280772:H3838Y	H	-	1	0	ANK3	61499133	1.000000	0.71417	0.994000	0.49952	0.893000	0.52053	4.947000	0.63583	2.511000	0.84671	0.650000	0.86243	CAC		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		55	138	0	0	0	1	0	55	138					A	61829127	G	A	61829127	3	1	173	1	0	0	0	0	1	0	0	0	622	1377	48	3	1962	3	ANK3	10	61829127	Missense_Mutation	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		61829127	73705620	13	3067										
ANK3	288	broad.mit.edu	37	chr10	62039370	62039370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	aaggtgtccagctcgagctgCtcttaagtaacttgcattgg	11	9	1	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:62039370C>T	ENST00000280772.2	-	2	333	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ANK3_ENST00000373827.2_Missense_Mutation_p.A42T|ANK3_ENST00000503366.1_Missense_Mutation_p.A31T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	48					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCGAGCTGCTCTTAAGTAA	0.343																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(142-144)Gca>Aca		ankyrin 3, node of Ranvier (ankyrin G)							106	115	112					10																	62039370		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62039370C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.142G>A	10.37:g.62039370C>T	ENSP00000280772:p.Ala48Thr					ANK3_ENST00000373827.2_Missense_Mutation_p.A42T|ANK3_ENST00000503366.1_Missense_Mutation_p.A31T	p.A48T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			2	333	-			48					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.142G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493426	0.96339	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000503925	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.22	5.22	0.72569	Ankyrin repeat-containing domain (3);	0.000000	0.41938	D	0.000798	D	0.92120	0.7502	M	0.91972	3.26	0.80722	D	1	P;D;D	0.89917	0.912;0.994;1.0	P;D;D	0.91635	0.507;0.973;0.999	D	0.93455	0.6805	10	0.87932	D	0	.	18.974	0.92728	0.0:1.0:0.0:0.0	.	31;42;48	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	48;42;31;10;31;22	ENSP00000280772:A48T;ENSP00000362933:A42T;ENSP00000425236:A31T;ENSP00000426011:A22T	ENSP00000280772:A48T	A	-	1	0	ANK3	61709376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.834000	0.69361	2.713000	0.92767	0.655000	0.94253	GCA		0.343	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		37	71	0	0	0	1	0	37	71					T	62039370	C	T	62039370	3	4	173	1	0	0	0	0	1	0	0	0	622	797	28	3	13492	3	ANK3	10	62039370	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08	210243	62039370	73495377	14	3068										
IDE	3416	broad.mit.edu	37	chr10	94223489	94223489	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	agccctaattttaccttaccTctgtcaaaattatattgctg	4	10	2	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr10:94223489T>A	ENST00000265986.6	-	21	2816	c.2760A>T	c.(2758-2760)agA>agT	p.R920S	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365S	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	920					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TTACCTTACCTCTGTCAAAAT	0.373																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.e21+1		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126	123	124					10																	94223489		2203	4300	6503	SO:0001630	splice_region_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94223489T>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2761+1A>T	10.37:g.94223489T>A						IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365_splice	p.R920_splice	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			21	2816	-			920					B2R721|B7ZAU2|D3DR35|Q5T5N2	Splice_Site	SNP	ENST00000265986.6	37	c.2761_splice	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989708	0.74589	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.37058	1.26;1.22	5.61	5.61	0.85477	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.69320	-0.5176	10	0.37606	T	0.19	-17.3606	16.0994	0.81158	0.0:0.0:0.0:1.0	.	920;365	P14735;B3KSB8	IDE_HUMAN;.	S	920;365	ENSP00000265986:R920S;ENSP00000360637:R365S	ENSP00000265986:R920S	R	-	3	2	IDE	94213469	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	4.806000	0.62569	2.261000	0.74972	0.533000	0.62120	AGA		0.373	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	Missense_Mutation	9	110	0	0	0	1	0	9	110					A	94223489	T	A	94223489	5	1	173	1	0	0	0	0	0	0	1	0	7493	1565	54	5	319	5	IDE	10	94223489	Splice_Site	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08	32184119	94223489	41311258	15	3069										
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	14	13	0	0	rs121913233		TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"E, L, M"		"rhadomyosarcoma, ganglioneuroblastoma, bladder"	"infrequent sarcomas, rare other types"		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117	102	107					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog"	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		21	28	0	0	0	1	0	21	28					C	533874	T	C	533874	3	2	173	1	0	0	0	0	1	0	0	0	7348	1580	55	4	466	4	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		533874	134472642	16	3070										
RAB6A	5870	broad.mit.edu	37	chr11	73388973	73388973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cagcctccttcactgactggTtgctcctgaggcttttccag	9	14	1	2			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr11:73388973T>C	ENST00000336083.3	-	8	1052	c.597A>G	c.(595-597)caA>caG	p.Q199Q	RAB6A_ENST00000536566.1_Silent_p.Q166Q|RAB6A_ENST00000310653.6_Silent_p.Q199Q|RAB6A_ENST00000541588.1_Silent_p.Q95Q	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	199					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						CACTGACTGGTTGCTCCTGAG	0.418																																						ENST00000310653.6																			0				large_intestine(2)|lung(2)	4						c.(595-597)caA>caG		RAB6A, member RAS oncogene family							147	137	140					11																	73388973		2200	4293	6493	SO:0001819	synonymous_variant	5870				minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding	g.chr11:73388973T>C	AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"RAB, member RAS oncogene"	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.597A>G	11.37:g.73388973T>C						RAB6A_ENST00000336083.3_Silent_p.Q199Q|RAB6A_ENST00000541588.1_Silent_p.Q95Q|RAB6A_ENST00000536566.1_Silent_p.Q166Q	p.Q199Q	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN			8	1098	-			199					A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Silent	SNP	ENST00000336083.3	37	c.597A>G	CCDS8224.1	.	.	.	.	.	.	.	.	.	.	T	5.332	0.246567	0.10130	.	.	ENSG00000175582	ENST00000541973	.	.	.	5.69	-4.2	0.03823	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	-0.009	5.653	0.17627	0.2604:0.4463:0.0:0.2933	.	.	.	.	S	192	.	.	N	-	2	0	RAB6A	73066621	0.946000	0.32159	0.909000	0.35828	0.564000	0.35744	0.034000	0.13776	-0.818000	0.04329	-0.344000	0.07964	AAC		0.418	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259241.2			4	77	0	0	0	1	0	4	77					C	73388973	T	C	73388973	2	2	173	1	0	0	0	0	0	0	0	1	12951	1722	60	4		4	RAB6A	11	73388973	Silent	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08	72855099	73388973	61617543	17	3071										
STAC3	246329	broad.mit.edu	37	chr12	57642487	57642487	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	ttgctctccacagcctactcAcgatcttgccgaagcatctc	6	16	4	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr12:57642487A>C	ENST00000332782.2	-	4	634		c.e4+1		STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3						intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CAGCCTACTCACGATCTTGCC	0.542																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.e4+1		SH3 and cysteine rich domain 3							511	458	476					12																	57642487		2203	4300	6503	SO:0001630	splice_region_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642487A>C	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.432+1T>G	12.37:g.57642487A>C						STAC3_ENST00000554578.1_Splice_Site|STAC3_ENST00000546246.2_Intron		NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	634	-								B4DUK9|Q96HU5	Splice_Site	SNP	ENST00000332782.2	37		CCDS8936.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313399	0.81358	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000553489	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6487	0.68780	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAC3	55928754	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.725000	0.91468	2.162000	0.67917	0.533000	0.62120	.		0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064	Intron	9	405	0	0	0	1	0	9	405					C	57642487	A	C	57642487	5	2	173	1	0	0	0	0	0	0	1	0	15240	173	6	5	696	5	STAC3	12	57642487	Splice_Site	SNP	A	TCGA-WB-A81T-01A-11D-A35I-08		57642487	76209408	18	3072										
C14orf159	80017	broad.mit.edu	37	chr14	91639743	91639743	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	NA	0	1	1	0	gtgcgggcctgctgctccctCggaggtgagcaggggcaacc	17	13	0	1			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr14:91639743C>T	ENST00000523771.1	+	6	1155	c.552C>T	c.(550-552)ctC>ctT	p.L184L	C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000520328.1_Silent_p.L184L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L|C14orf159_ENST00000518868.1_Silent_p.L189L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000521077.2_Silent_p.L189L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	184						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCTGCTCCCTCGGAGGTGAGC	0.612											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(565-567)ctC>ctT		chromosome 14 open reading frame 159							49	42	44					14																	91639743		2203	4300	6503	SO:0001819	synonymous_variant	80017					mitochondrion		g.chr14:91639743C>T	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.552C>T	14.37:g.91639743C>T			OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1284	C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000523771.1_Silent_p.L184L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000521077.2_Silent_p.L189L|C14orf159_ENST00000520328.1_Silent_p.L184L	p.L189L			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	9	1257	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	184					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Silent	SNP	ENST00000523771.1	37	c.567C>T	CCDS32141.1																																																																																				0.612	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		11	21	0	0	0	1	0	11	21					T	91639743	C	T	91639743	2	4	173	1	0	0	0	0	0	0	0	1	1755	871	31	2		2	C14orf159	14	91639743	Silent	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		91639743	15709797	19	3073										
CLEC18B	497190	broad.mit.edu	37	chr16	74443772	74443772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	catggcagcactcagccacaCcagcctgtggggatggtggg	15	12	1	0	rs139908030	byFrequency	TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr16:74443772C>T	ENST00000339953.5	-	11	1337	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	406	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCAGCCACACCAGCCTGTGG	0.627																																						ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1216-1218)Gtg>Atg		C-type lectin domain family 18, member B		C	MET/VAL	7,4387	6.2+/-15.9	0,7,2190	36	40	39		1216	-4.1	0	16	dbSNP_134	39	35,8565	13.3+/-46.6	0,35,4265	no	missense	CLEC18B	NM_001011880.2	21	0,42,6455	TT,TC,CC		0.407,0.1593,0.3232	benign	406/456	74443772	42,12952	2197	4300	6497	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74443772C>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1216G>A	16.37:g.74443772C>T	ENSP00000341051:p.Val406Met						p.V406M	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			11	1337	-			406			C-type lectin.		B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.1216G>A	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	4.478	0.088598	0.08583	0.001593	0.00407	ENSG00000140839	ENST00000339953	T	0.24350	1.86	2.51	-4.06	0.03986	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	B	0.31125	0.309	B	0.32342	0.144	T	0.23154	-1.0196	9	0.56958	D	0.05	.	12.9518	0.58405	0.0:0.2236:0.7764:0.0	.	406	Q6UXF7	CL18B_HUMAN	M	406	ENSP00000341051:V406M	ENSP00000341051:V406M	V	-	1	0	CLEC18B	73001273	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.214000	0.09292	-0.745000	0.04772	-0.690000	0.03725	GTG		0.627	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		4	38	0	0	0	1	0	4	38					T	74443772	C	T	74443772	3	4	173	1	0	0	0	0	1	0	0	0	3503	507	18	3	163	3	CLEC18B	16	74443772	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		74443772	15910981	20	3074										
TMEM98	26022	broad.mit.edu	37	chr17	31260234	31260234	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	gccatggagacccagtctgaGccctctgagttagaactgga	12	11	2	4			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr17:31260234G>A	ENST00000579849.1	+	4	605	c.174G>A	c.(172-174)gaG>gaA	p.E58E	TMEM98_ENST00000578289.1_Silent_p.E58E|TMEM98_ENST00000394642.3_Silent_p.E58E	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	58						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CCCAGTCTGAGCCCTCTGAGT	0.532																																						ENST00000579849.1																			0				kidney(2)|large_intestine(1)	3						c.(172-174)gaG>gaA		transmembrane protein 98							131	115	120					17																	31260234		2203	4300	6503	SO:0001819	synonymous_variant	26022					endoplasmic reticulum|integral to membrane		g.chr17:31260234G>A	CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.174G>A	17.37:g.31260234G>A						TMEM98_ENST00000394642.3_Silent_p.E58E|TMEM98_ENST00000578289.1_Silent_p.E58E	p.E58E	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0769)		4	605	+		Ovarian(249;0.182)|Breast(31;0.244)	58					E1P631|Q9UFK2	Silent	SNP	ENST00000579849.1	37	c.174G>A	CCDS11274.1																																																																																				0.532	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256372.2	NM_015544		17	33	0	0	0	1	0	17	33					A	31260234	G	A	31260234	2	1	173	1	0	0	0	0	0	0	0	1	16222	962	34	3		3	TMEM98	17	31260234	Silent	SNP	G	TCGA-WB-A81T-01A-11D-A35I-08		31260234	49934976	21	3075										
UBXN6	80700	broad.mit.edu	37	chr19	4446365	4446365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	cgctgctcctccttctcccgCatggccttggtccgcagcac	9	19	1	0			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chr19:4446365C>A	ENST00000301281.6	-	9	1090	c.966G>T	c.(964-966)atG>atT	p.M322I	UBXN6_ENST00000394765.3_Missense_Mutation_p.M269I|CTB-50L17.7_ENST00000588798.1_RNA|MIR4746_ENST00000579802.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	322						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTTCTCCCGCATGGCCTTGG	0.711																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(964-966)atG>atT		UBX domain protein 6							19	17	18					19																	4446365		2189	4290	6479	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4446365C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.966G>T	19.37:g.4446365C>A	ENSP00000301281:p.Met322Ile					UBXN6_ENST00000394765.3_Missense_Mutation_p.M269I	p.M322I	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			9	1090	-			322					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.966G>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628100	0.87560	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.41065	1.01;1.01	5.14	2.91	0.33838	.	0.110450	0.85682	N	0.000000	T	0.68192	0.2974	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.79784	0.993;0.787	T	0.74340	-0.3697	10	0.54805	T	0.06	-46.7968	14.7016	0.69160	0.0:0.7239:0.2761:0.0	.	269;322	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	I	322;269	ENSP00000301281:M322I;ENSP00000378246:M269I	ENSP00000301281:M322I	M	-	3	0	UBXN6	4397365	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	7.245000	0.78237	0.630000	0.30394	0.561000	0.74099	ATG		0.711	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		3	6	1	0	6.4e-05	1	6.4e-05	3	6					A	4446365	C	A	4446365	3	1	173	1	0	0	0	0	1	0	0	0	16914	710	25	5	371	5	UBXN6	19	4446365	Missense_Mutation	SNP	C	TCGA-WB-A81T-01A-11D-A35I-08		4446365	54682618	22	3076										
VSIG4	11326	broad.mit.edu	37	chrX	65253674	65253674	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	NA	0	1	1	0	acttccaggatgggacggccTgaagaggcggaacagaggaa	16	8	0	3			TCGA-WB-A81T-01A-11D-A35I-08	TCGA-WB-A81T-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	556c1156-ed29-43ee-a71e-53c24c51bed2	0c820458-5d04-4ba4-ba51-7a3e58fdd3fb	g.chrX:65253674T>C	ENST00000374737.4	-	2	164		c.e2-2		VSIG4_ENST00000412866.2_Splice_Site|VSIG4_ENST00000455586.2_Splice_Site	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGGACGGCCTGAAGAGGCGG	0.512																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e2-2		V-set and immunoglobulin domain containing 4							66	49	55					X																	65253674		2203	4300	6503	SO:0001630	splice_region_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253674T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.56-2A>G	X.37:g.65253674T>C						VSIG4_ENST00000412866.2_Splice_Site|VSIG4_ENST00000374737.4_Splice_Site		NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	182	-								Q6UXI4	Splice_Site	SNP	ENST00000374737.4	37		CCDS14383.1	.	.	.	.	.	.	.	.	.	.	T	0.766	-0.767678	0.02974	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	.	.	.	4.93	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3335	0.32200	0.0:0.0:0.215:0.7849	.	.	.	.	.	-1	.	.	.	-	.	.	VSIG4	65170399	0.503000	0.26115	0.102000	0.21198	0.006000	0.05464	0.684000	0.25364	1.623000	0.50342	0.481000	0.45027	.		0.512	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268	Intron	10	8	0	0	0	1	0	10	8					C	65253674	T	C	65253674	5	2	173	1	0	0	0	0	0	0	1	0	17222	1594	55	4	1177	4	VSIG4	23	65253674	Splice_Site	SNP	T	TCGA-WB-A81T-01A-11D-A35I-08		65253674	90016886	23	3077										
PAPPA2	60676	broad.mit.edu	37	chr1	176675578	176675578	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgagctggaggaaggtttcaActgtgtaggtaagttcaaga	14	4	2	2			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:176675578A>G	ENST00000367662.3	+	10	4613	c.3449A>G	c.(3448-3450)aAc>aGc	p.N1150S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1150					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAGGTTTCAACTGTGTAGGT	0.423																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3448-3450)aAc>aGc		pappalysin 2							213	217	216					1																	176675578		1944	4153	6097	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176675578A>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3449A>G	1.37:g.176675578A>G	ENSP00000356634:p.Asn1150Ser						p.N1150S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			10	4613	+			1150					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3449A>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943844	0.34283	.	.	ENSG00000116183	ENST00000367662	T	0.44083	0.93	5.65	5.65	0.86999	.	0.247504	0.46442	D	0.000289	T	0.35248	0.0925	L	0.42632	1.34	0.80722	D	1	B	0.33494	0.414	B	0.31245	0.126	T	0.22906	-1.0203	10	0.52906	T	0.07	-6.7061	11.542	0.50672	0.8505:0.1495:0.0:0.0	.	1150	Q9BXP8	PAPP2_HUMAN	S	1150	ENSP00000356634:N1150S	ENSP00000356634:N1150S	N	+	2	0	PAPPA2	174942201	1.000000	0.71417	0.998000	0.56505	0.227000	0.25037	3.875000	0.56108	2.149000	0.67028	0.533000	0.62120	AAC		0.423	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	10	0	0	0	1	0	8	10					G	176675578	A	G	176675578	3	3	174	1	0	0	0	0	1	0	0	0	11433	43	2	4	3536	4	PAPPA2	1	176675578	Missense_Mutation	SNP	A	TCGA-WB-A81V-01A-11D-A35I-08		176675578	72575043	1	3078										
KDM5B	10765	broad.mit.edu	37	chr1	202700150	202700150	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aggaagggatacctggagcaGctgggcttccatcaatagtt	13	8	1	0			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr1:202700150G>A	ENST00000367265.3	-	25	5227	c.4063C>T	c.(4063-4065)Ctg>Ttg	p.L1355L	KDM5B_ENST00000367264.2_Silent_p.L1391L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1355					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACCTGGAGCAGCTGGGCTTCC	0.448																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4063-4065)Ctg>Ttg		lysine (K)-specific demethylase 5B							90	82	85					1																	202700150		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202700150G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4063C>T	1.37:g.202700150G>A						KDM5B_ENST00000367264.2_Silent_p.L1391L	p.L1355L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			25	5227	-			1355					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.4063C>T	CCDS30974.1																																																																																				0.448	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		3	39	0	0	0	1	0	3	39					A	202700150	G	A	202700150	2	1	174	1	0	0	0	0	0	0	0	1	8134	962	34	3		3	KDM5B	1	202700150	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08	26024572	202700150	46550471	2	3079										
MARCH4	57574	broad.mit.edu	37	chr2	217124370	217124370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgccaccgtttaaagatgcGgtacaccgagggtccttcat	10	12	1	1			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr2:217124370G>A	ENST00000273067.4	-	4	2664	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	300						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTAAAGATGCGGTACACCGAG	0.537																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(898-900)Cgc>Tgc		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							68	59	62					2																	217124370		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124370G>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.898C>T	2.37:g.217124370G>A	ENSP00000273067:p.Arg300Cys					AC012513.6_ENST00000417481.1_RNA	p.R300C	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2664	-		Renal(323;0.0854)	300					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.898C>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498448	0.85069	.	.	ENSG00000144583	ENST00000273067	T	0.60797	0.16	4.97	4.97	0.65823	.	0.104769	0.64402	D	0.000002	T	0.75034	0.3795	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78056	-0.2353	10	0.87932	D	0	-13.8759	17.587	0.87984	0.0:0.0:1.0:0.0	.	300	Q9P2E8	MARH4_HUMAN	C	300	ENSP00000273067:R300C	ENSP00000273067:R300C	R	-	1	0	MARCH4	216832615	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.820000	0.86633	2.473000	0.83533	0.561000	0.74099	CGC		0.537	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		11	18	0	0	0	1	0	11	18					A	217124370	G	A	217124370	3	1	174	1	0	0	0	0	1	0	0	0	9303	1116	39	2	338	2	MARCH4	2	217124370	Missense_Mutation	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		217124370	26075003	3	3080										
ANKRD28	23243	broad.mit.edu	37	chr3	15755112	15755113	+	Frame_Shift_Ins	INS	-	-	T													0	0	1	0	0	0	1	1	0	tgctgctatgtgcaaaggggINStatttccattcttatcctca							TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr3:15755112_15755113insT	ENST00000399451.2	-	10	1388_1389	c.1021_1022insA	c.(1021-1023)accfs	p.T341fs	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.T374fs	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	341						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GTGCAAAGGGGTATTTCCATTC	0.441																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1021-1023)cccfs		ankyrin repeat domain 28																																				SO:0001589	frameshift_variant	23243					nucleoplasm	protein binding	g.chr3:15755112_15755113insT	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1022dupA	3.37:g.15755113_15755113dupT	ENSP00000382379:p.Thr341fs					ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.P374fs|ANKRD28_ENST00000497037.1_5'UTR	p.P341fs	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			10	1388_1389	-			341					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Frame_Shift_Ins	INS	ENST00000399451.2	37	c.1021_1022insA	CCDS46769.1																																																																																				0.441	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		16	111						16	111	---	---	---	---	T	15755113	-	T	15755112	7	5	174	1	0	1	1	0	0	0	0	0	656	1261	44	0	2215	0	ANKRD28	3	15755112	Frame_Shift_Ins	INS	-	TCGA-WB-A81V-01A-11D-A35I-08		15755112	182267318	4	3081										
KIAA1797	54914	broad.mit.edu	37	chr9	20933055	20933055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaccttcttctgatgaagtcGttggatgccctggaaaattg	10	8	2	2	rs149998482		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:20933055G>A	ENST00000380249.1	+	30	3724	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	FOCAD_ENST00000605086.1_Silent_p.S556S|FOCAD_ENST00000338382.6_Silent_p.S1120S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1120						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGATGAAGTCGTTGGATGCCC	0.378													G|||	1	0.000199681	0	0	5008	,	,		16558	0		0.001	False		,,,				2504	0					ENST00000380249.1																			0											c.(3358-3360)tcG>tcA		focadhesin		G		0,4406		0,0,2203	197	178	184		3360	-2.5	1	9	dbSNP_134	184	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	KIAA1797	NM_017794.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		1120/1802	20933055	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20933055G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3360G>A	9.37:g.20933055G>A						FOCAD_ENST00000605086.1_Silent_p.S556S|FOCAD_ENST00000338382.6_Silent_p.S1120S	p.S1120S	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			30	3724	+			1120					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.3360G>A	CCDS34993.1																																																																																				0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		15	74	0	0	0	1	0	15	74					A	20933055	G	A	20933055	2	1	174	1	0	0	0	0	0	0	0	1	8258	1132	40	1		1	KIAA1797	9	20933055	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		20933055	120280376	5	3082										
ZNF79	7633	broad.mit.edu	37	chr9	130197489	130197489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaagtccaggagccttgtcCtactaggtaaggaaactgtt	11	8	0	0			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr9:130197489C>T	ENST00000342483.5	+	3	632	c.226C>T	c.(226-228)Cta>Tta	p.L76L	ZNF79_ENST00000543471.1_Silent_p.L52L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGCCTTGTCCTACTAGGTAA	0.478																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(226-228)Cta>Tta		zinc finger protein 79							91	89	90					9																	130197489		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130197489C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	13153	protein-coding gene	gene with protein product		194552	"zinc finger protein 79 (pT7)"			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.226C>T	9.37:g.130197489C>T						ZNF79_ENST00000543471.1_Silent_p.L52L	p.L76L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			3	632	+			76			KRAB.		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.226C>T	CCDS6871.1																																																																																				0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		4	32	0	0	0	1	0	4	32					T	130197489	C	T	130197489	2	4	174	1	0	0	0	0	0	0	0	1	18158	680	24	3		3	ZNF79	9	130197489	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08	109264434	130197489	11015942	6	3083										
OR52M1	119772	broad.mit.edu	37	chr11	4567013	4567013	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atgtggcgacagcagggtcaAtaatgtctatgggctgagca	14	7	2	1			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr11:4567013A>G	ENST00000360213.1	+	1	593	c.593A>G	c.(592-594)aAt>aGt	p.N198S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGGTCAATAATGTCTAT	0.512																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(592-594)aAt>aGt		olfactory receptor, family 52, subfamily M, member 1							226	212	217					11																	4567013		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567013A>G	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	15225	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.593A>G	11.37:g.4567013A>G	ENSP00000353343:p.Asn198Ser						p.N198S	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	593	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	198						Missense_Mutation	SNP	ENST00000360213.1	37	c.593A>G	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	8.695	0.908443	0.17833	.	.	ENSG00000197790	ENST00000360213	T	0.00211	8.54	5.01	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.00241	0.0007	M	0.71206	2.165	0.34423	D	0.697646	B	0.24258	0.1	B	0.29176	0.099	T	0.48790	-0.9004	10	0.72032	D	0.01	.	7.5066	0.27549	0.8613:0.0:0.1387:0.0	.	198	Q8NGK5	O52M1_HUMAN	S	198	ENSP00000353343:N198S	ENSP00000353343:N198S	N	+	2	0	OR52M1	4523589	0.002000	0.14202	0.998000	0.56505	0.038000	0.13279	0.423000	0.21313	2.233000	0.73108	0.528000	0.53228	AAT		0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		6	88	0	0	0	1	0	6	88					G	4567013	A	G	4567013	3	3	174	1	0	0	0	0	1	0	0	0	11126	101	4	4	595	4	OR52M1	11	4567013	Missense_Mutation	SNP	A	TCGA-WB-A81V-01A-11D-A35I-08		4567013	130439503	7	3084										
KLHDC5	57542	broad.mit.edu	37	chr12	27933767	27933767	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tgcaagccccagttccacctCctggggtctcctccccaagc	8	19	1	0			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:27933767C>T	ENST00000381271.2	+	1	815	c.504C>T	c.(502-504)ctC>ctT	p.L168L	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	168					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGTTCCACCTCCTGGGGTCTC	0.672																																						ENST00000381271.2																			0											c.(502-504)ctC>ctT		kelch-like family member 42							43	47	46					12																	27933767		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27933767C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.504C>T	12.37:g.27933767C>T						RP11-860B13.1_ENST00000545904.1_RNA	p.L168L	NM_020782.1	NP_065833.1					1	815	+								Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.504C>T	CCDS31763.1																																																																																				0.672	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		21	25	0	0	0	1	0	21	25					T	27933767	C	T	27933767	2	4	174	1	0	0	0	0	0	0	0	1	8359	842	30	3		3	KLHDC5	12	27933767	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08		27933767	105918128	8	3085										
ARID2	196528	broad.mit.edu	37	chr12	46245245	46245245	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcaggttttggagtgcagggGcaaactccagctcagcagct	14	10	1	0			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr12:46245245G>A	ENST00000334344.6	+	15	3511	c.3339G>A	c.(3337-3339)ggG>ggA	p.G1113G	ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Silent_p.G964G|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1113	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGTGCAGGGGCAAACTCCAG	0.542			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"N, S, F"	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3337-3339)ggG>ggA		AT rich interactive domain 2 (ARID, RFX-like)							74	71	72					12																	46245245		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245245G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3339G>A	12.37:g.46245245G>A						ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000422737.1_Silent_p.G964G	p.G1113G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3511	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1113			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.3339G>A	CCDS31783.1																																																																																				0.542	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		3	51	0	0	0	1	0	3	51					A	46245245	G	A	46245245	2	1	174	1	0	0	0	0	0	0	0	1	915	1190	42	3		3	ARID2	12	46245245	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08	18311478	46245245	87606650	9	3086										
NF1	4763	broad.mit.edu	37	chr17	29576062	29576077	+	Frame_Shift_Del	DEL	GTTCTTCCATGCCATC	GTTCTTCCATGCCATC	-													0	0	1	0	0	0	1	1	0	ctccttcagatgactgaaaaGttcttccatgccatcatcag							TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29576062_29576077delGTTCTTCCATGCCATC	ENST00000358273.4	+	30	4418_4433	c.4035_4050delGTTCTTCCATGCCATC	c.(4033-4050)aagttcttccatgccatcfs	p.KFFHAI1345fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1345	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCT	0.384			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CI040953	NF1	I		c.(4033-4050)aafs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576062_29576077delGTTCTTCCATGCCATC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4035_4050delGTTCTTCCATGCCATC	17.37:g.29576062_29576077delGTTCTTCCATGCCATC	ENSP00000351015:p.Lys1345fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs	p.KFFHAI1345fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4418_4433	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1345			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4035_4050delGTTCTTCCATGCCATC	CCDS42292.1																																																																																				0.384	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	83						15	83	---	---	---	---	-	29576077	GTTCTTCCATGCCATC	-	29576062	7	5	174	1	0	1	0	1	0	0	0	0	10356	1020	36	0	4214	0	NF1	17	29576062	Frame_Shift_Del	DEL	GTTCTTCCATGCCATC	TCGA-WB-A81V-01A-11D-A35I-08		29576062	51619148	10	3087										
NF1	4763	broad.mit.edu	37	chr17	29657338	29657338	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gctgcctataatcttctgtgTgccttaacttgtacctttaa	6	10	2	0			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:29657338T>A	ENST00000358273.4	+	39	6017	c.5634T>A	c.(5632-5634)tgT>tgA	p.C1878*	NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1878					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCTTCTGTGTGCCTTAACTT	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(5632-5634)tgT>tgA		neurofibromin 1							97	94	95					17																	29657338		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29657338T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5634T>A	17.37:g.29657338T>A	ENSP00000351015:p.Cys1878*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR	p.C1878*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	6017	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1878					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5634T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	45	11.401226	0.99556	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9706	0.71232	0.0:0.0:0.0:1.0	.	.	.	.	X	1878;1857;1523	.	ENSP00000348498:C1857X	C	+	3	2	NF1	26681464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.813000	0.62620	2.123000	0.65237	0.528000	0.53228	TGT		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	33	0	0	0	1	0	20	33					A	29657338	T	A	29657338	4	1	174	1	0	0	0	0	0	1	0	0	10356	1702	59	5	5849	5	NF1	17	29657338	Nonsense_Mutation	SNP	T	TCGA-WB-A81V-01A-11D-A35I-08	81276	29657338	51537872	11	3088										
CACNA1G	8913	broad.mit.edu	37	chr17	48650206	48650206	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	attggctatgcctggatcgcCatcttccaggtggggcagcc	13	12	1	0			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr17:48650206C>A	ENST00000359106.5	+	6	1038	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	CACNA1G_ENST00000515765.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A|CACNA1G_ENST00000352832.5_Silent_p.A346A|CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	346					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGATCGCCATCTTCCAGG	0.617																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(1036-1038)gcC>gcA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						59	64	62					17																	48650206		2024	4158	6182	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48650206C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1038C>A	17.37:g.48650206C>A						CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000359106.5_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A|CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000515765.1_Silent_p.A346A	p.A346A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1410	+	Breast(11;6.7e-17)		346					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.1038C>A	CCDS45730.1																																																																																				0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	33	1	0	5.50884e-06	1	5.50884e-06	12	33					A	48650206	C	A	48650206	2	1	174	1	0	0	0	0	0	0	0	1	2544	581	21	5		5	CACNA1G	17	48650206	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08	18992868	48650206	32545004	12	3089										
RDH8	50700	broad.mit.edu	37	chr19	10132233	10132233	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	attgtcaacgtcatcagctcGactcgaccacccctgcgccg	8	17	3	0	rs181170344		TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:10132233G>A	ENST00000171214.1	+	6	993	c.744G>A	c.(742-744)tcG>tcA	p.S248S	RDH8_ENST00000591589.1_Silent_p.S268S	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	248					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCATCAGCTCGACTCGACCAC	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		16831	0		0	False		,,,				2504	0					ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(802-804)tcG>tcA		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						88	80	83					19																	10132233		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132233G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.744G>A	19.37:g.10132233G>A						RDH8_ENST00000171214.1_Silent_p.S248S	p.S268S			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	993	+			248					Q9H838	Silent	SNP	ENST00000171214.1	37	c.804G>A																																																																																					0.632	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	32	0	0	0	1	0	3	32					A	10132233	G	A	10132233	2	1	174	1	0	0	0	0	0	0	0	1	13196	1045	37	2		2	RDH8	19	10132233	Silent	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		10132233	48996750	13	3090										
ZNF564	163050	broad.mit.edu	37	chr19	12638192	12638192	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	atctccagtgtgcctaatcaTgtgtctttgaaaacttggaa	8	8	3	1			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:12638192T>C	ENST00000339282.7	-	4	926	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGCCTAATCATGTGTCTTTGA	0.388																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(730-732)Atg>Gtg		zinc finger protein 564							83	92	89					19																	12638192		2175	4295	6470	SO:0001583	missense	163050							g.chr19:12638192T>C	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.730A>G	19.37:g.12638192T>C	ENSP00000340004:p.Met244Val					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.M244V	NM_144976.3	NP_659413.1					4	926	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.730A>G	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604332	0.28534	.	.	ENSG00000249709	ENST00000339282	T	0.18960	2.18	1.57	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.11673	0.155	0.09310	N	0.999999	B	0.23591	0.088	B	0.36608	0.229	T	0.44574	-0.9319	9	0.66056	D	0.02	.	5.1631	0.15071	0.0:0.1761:0.4708:0.3531	.	244	Q8TBZ8	ZN564_HUMAN	V	244	ENSP00000340004:M244V	ENSP00000340004:M244V	M	-	1	0	ZNF564	12499192	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-2.132000	0.01309	-0.779000	0.04560	0.448000	0.29417	ATG		0.388	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		19	92	0	0	0	1	0	19	92					C	12638192	T	C	12638192	3	2	174	1	0	0	0	0	1	0	0	0	17992	1464	51	4	935	4	ZNF564	19	12638192	Missense_Mutation	SNP	T	TCGA-WB-A81V-01A-11D-A35I-08	2505959	12638192	46490791	14	3091										
RYR1	6261	broad.mit.edu	37	chr19	39026679	39026679	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gagagacagaacaaggccgaGgggctgggcatggtgaatga	18	6	0	4			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr19:39026679G>C	ENST00000359596.3	+	82	11559	c.11559G>C	c.(11557-11559)gaG>gaC	p.E3853D	RYR1_ENST00000355481.4_Missense_Mutation_p.E3848D|AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3853					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACAAGGCCGAGGGGCTGGGCA	0.577																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(11542-11544)gaG>gaC		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						131	115	121					19																	39026679		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39026679G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11559G>C	19.37:g.39026679G>C	ENSP00000352608:p.Glu3853Asp					AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3853D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D	p.E3848D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		81	11675	+	all_cancers(60;7.91e-06)		3853					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11544G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286146	0.23478	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91792	-2.91;-2.91;-2.91	4.38	1.01	0.19927	.	0.000000	0.64402	U	0.000002	D	0.94785	0.8316	M	0.83483	2.645	0.35816	D	0.824231	D;D;D	0.67145	0.996;0.996;0.994	D;D;D	0.76071	0.987;0.987;0.97	D	0.93914	0.7199	10	0.87932	D	0	.	7.0499	0.25067	0.4704:0.0:0.5296:0.0	.	3853;3848;3853	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3853;3848;3853	ENSP00000352608:E3853D;ENSP00000347667:E3848D;ENSP00000354254:E3853D	ENSP00000347667:E3848D	E	+	3	2	RYR1	43718519	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.441000	0.21611	0.124000	0.18369	0.655000	0.94253	GAG		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	10	0	0	0	1	0	11	10					C	39026679	G	C	39026679	3	2	174	1	0	0	0	0	1	0	0	0	13768	991	35	5	11885	5	RYR1	19	39026679	Missense_Mutation	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08	26388487	39026679	20102304	15	3092										
PLUNC	51297	broad.mit.edu	37	chr20	31825987	31825987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggactgcttggaaaagtgaCgtcagtgattcctggcctga	14	8	1	3			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr20:31825987C>T	ENST00000354297.4	+	3	358	c.287C>T	c.(286-288)aCg>aTg	p.T96M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	96					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.T96M(1)									GGAAAAGTGACGTCAGTGATT	0.537																																						ENST00000354297.4																			1	Substitution - Missense(1)	p.T96M(1)	large_intestine(1)								c.(286-288)aCg>aTg		BPI fold containing family A, member 1							86	79	81					20																	31825987		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825987C>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.287C>T	20.37:g.31825987C>T	ENSP00000346251:p.Thr96Met					BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M	p.T96M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			3	358	+			96					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.287C>T	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544359	0.27563	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.12361	2.69;2.69;2.69	5.34	2.28	0.28536	.	0.503596	0.20012	N	0.101084	T	0.18882	0.0453	L	0.51422	1.61	0.09310	N	1	D	0.64830	0.994	P	0.55667	0.781	T	0.04870	-1.0921	10	0.40728	T	0.16	-1.3225	5.0252	0.14381	0.1666:0.657:0.0:0.1764	.	96	Q9NP55	BPIA1_HUMAN	M	96;96;96;82	ENSP00000364571:T96M;ENSP00000346251:T96M;ENSP00000364562:T96M	ENSP00000346251:T96M	T	+	2	0	BPIFA1	31289648	0.001000	0.12720	0.204000	0.23530	0.008000	0.06430	-0.057000	0.11768	0.808000	0.34231	0.655000	0.94253	ACG		0.537	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		21	46	0	0	0	1	0	21	46					T	31825987	C	T	31825987	3	4	174	1	0	0	0	0	1	0	0	0	12115	536	19	1	293	1	PLUNC	20	31825987	Missense_Mutation	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08		31825987	31199533	16	3093										
TTLL12	23170	broad.mit.edu	37	chr22	43567862	43567862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgggtcatagttcatgaccGtgaagtgcttctcgtagtca	11	10	4	2			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chr22:43567862G>A	ENST00000216129.6	-	11	1601	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	513	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTTCATGACCGTGAAGTGCTT	0.587																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1537-1539)aCg>aTg		tubulin tyrosine ligase-like family, member 12							154	108	124					22																	43567862		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43567862G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1538C>T	22.37:g.43567862G>A	ENSP00000216129:p.Thr513Met						p.T513M	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			11	1601	-		Ovarian(80;0.221)|Glioma(61;0.222)	513			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.1538C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552069	0.86127	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.15718	2.4	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66972	-0.5788	10	0.87932	D	0	-9.935	17.7619	0.88467	0.0:0.0:1.0:0.0	.	513;513	B1AH89;Q14166	.;TTL12_HUMAN	M	513	ENSP00000216129:T513M	ENSP00000216129:T513M	T	-	2	0	TTLL12	41897806	1.000000	0.71417	0.977000	0.42913	0.785000	0.44390	8.575000	0.90766	2.648000	0.89879	0.655000	0.94253	ACG		0.587	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		3	47	0	0	0	1	0	3	47					A	43567862	G	A	43567862	3	1	174	1	0	0	0	0	1	0	0	0	16722	1145	40	1	412	1	TTLL12	22	43567862	Missense_Mutation	SNP	G	TCGA-WB-A81V-01A-11D-A35I-08		43567862	7736704	17	3094										
MAGEA6	4105	broad.mit.edu	37	chrX	151869868	151869868	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acctgcctgggcctctcctaCgatggcctgctgggtgacaa	12	14	1	1			TCGA-WB-A81V-01A-11D-A35I-08	TCGA-WB-A81V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6300e3be-89f7-4168-aea3-14f052f7d8b2	54aac43d-0895-4da5-86f5-6720e0ac614c	g.chrX:151869868C>T	ENST00000329342.5	+	3	783	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	186	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCTCCTACGATGGCCTGC	0.557																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(556-558)taC>taT		melanoma antigen family A, 6							111	106	108					X																	151869868		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869868C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.558C>T	X.37:g.151869868C>T							p.Y186Y	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	783	+	Acute lymphoblastic leukemia(192;6.56e-05)		186			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.558C>T	CCDS14708.1																																																																																				0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	61	0	0	0	1	0	4	61					T	151869868	C	T	151869868	2	4	174	1	0	0	0	0	0	0	0	1	9170	547	19	1		1	MAGEA6	23	151869868	Silent	SNP	C	TCGA-WB-A81V-01A-11D-A35I-08		151869868	3400692	18	3095										
PRDM16	63976	broad.mit.edu	37	chr1	3327970	3327970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaggtctgccacaagtcctaCacgcagttctccaacctgtg	9	14	2	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr1:3327970C>T	ENST00000270722.5	+	9	1258	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y|PRDM16_ENST00000378398.3_Silent_p.Y404Y|PRDM16_ENST00000514189.1_Silent_p.Y404Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	403					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACAAGTCCTACACGCAGTTCT	0.542			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1210-1212)taC>taT		PR domain containing 16							62	64	64					1																	3327970		2168	4288	6456	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3327970C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1209C>T	1.37:g.3327970C>T						PRDM16_ENST00000442529.2_Silent_p.Y403Y|PRDM16_ENST00000441472.2_Silent_p.Y403Y|PRDM16_ENST00000511072.1_Silent_p.Y404Y|PRDM16_ENST00000270722.5_Silent_p.Y403Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.Y403Y|PRDM16_ENST00000514189.1_Silent_p.Y404Y	p.Y404Y			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1294	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	403					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1212C>T	CCDS41236.2																																																																																				0.542	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		6	8	0	0	0	1	0	6	8					T	3327970	C	T	3327970	2	4	175	1	0	0	0	0	0	0	0	1	12457	489	17	3		3	PRDM16	1	3327970	Silent	SNP	C	TCGA-WB-A81W-01A-11D-A35I-08		3327970	245922651	1	3096										
SATB1	6304	broad.mit.edu	37	chr3	18391140	18391160	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGTTGCTGT	TGCTGCTGCTGCTGTTGCTGT	-													0	0	1	0	0	0	1	1	0	gaggcggcggtgcctgctgcTgctgctgctgctgttgctgt							TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT	ENST00000338745.6	-	11	3528_3548	c.1794_1814delACAGCAACAGCAGCAGCAGCA	c.(1792-1815)caacagcaacagcagcagcagcag>cag	p.598_605QQQQQQQQ>Q	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.630_637QQQQQQQQ>Q|SATB1_ENST00000454909.2_In_Frame_Del_p.598_605QQQQQQQQ>Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	598	Poly-Gln.				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGCctgctgctgctgctgctgctgttgctgttgctgctgct	0.597																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1792-1815)cag>ca		SATB homeobox 1																																				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1794_1814delACAGCAACAGCAGCAGCAGCA	3.37:g.18391140_18391160delTGCTGCTGCTGCTGTTGCTGT	ENSP00000341024:p.Gln598_Gln604del					SATB1_ENST00000454909.2_In_Frame_Del_p.QQQQQQQQ598del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.QQQQQQQQ630del	p.QQQQQQQQ598del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			11	3528_3548	-			598			Poly-Gln.		B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.1794_1814delACAGCAACAGCAGCAGCAGCA	CCDS2631.1																																																																																				0.597	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		5	9						5	9	---	---	---	---	-	18391160	TGCTGCTGCTGCTGTTGCTGT	-	18391140	7	5	175	1	0	1	0	1	0	0	0	0	13853	1580	55	0	481	0	SATB1	3	18391140	In_Frame_Del	DEL	TGCTGCTGCTGCTGTTGCTGT	TCGA-WB-A81W-01A-11D-A35I-08		18391140	179631290	2	3097										
FAM190A	401145	broad.mit.edu	37	chr4	91229914	91229914	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttctggcaaaagtgaaggggAtgattctggtttcacagaag	13	5	3	3			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr4:91229914A>G	ENST00000509176.1	+	2	767	c.479A>G	c.(478-480)gAt>gGt	p.D160G	CCSER1_ENST00000333691.8_Missense_Mutation_p.D160G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D160G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	160																	AGTGAAGGGGATGATTCTGGT	0.358																																						ENST00000509176.1																			0											c.(478-480)gAt>gGt		coiled-coil serine-rich protein 1							54	53	53					4																	91229914		1834	4092	5926	SO:0001583	missense	401145							g.chr4:91229914A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.479A>G	4.37:g.91229914A>G	ENSP00000425040:p.Asp160Gly					CCSER1_ENST00000333691.8_Missense_Mutation_p.D160G|CCSER1_ENST00000432775.2_Missense_Mutation_p.D160G	p.D160G	NM_001145065.1	NP_001138537.1					2	767	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.479A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661730	0.67700	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.59638	0.74;0.25;0.74	5.18	5.18	0.71444	.	0.061459	0.64402	D	0.000005	T	0.70491	0.3230	L	0.48642	1.525	0.44754	D	0.997753	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.91635	0.878;0.998;0.999	T	0.73591	-0.3934	10	0.87932	D	0	-28.0797	15.7521	0.77994	1.0:0.0:0.0:0.0	.	160;160;160	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	G	160	ENSP00000425040:D160G;ENSP00000389283:D160G;ENSP00000329482:D160G	ENSP00000329482:D160G	D	+	2	0	FAM190A	91448937	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	8.502000	0.90505	2.254000	0.74563	0.533000	0.62120	GAT		0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		12	20	0	0	0	1	0	12	20					G	91229914	A	G	91229914	3	3	175	1	0	0	0	0	1	0	0	0	5521	333	12	4	481	4	FAM190A	4	91229914	Missense_Mutation	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08		91229914	99924362	3	3098										
FGFR4	2264	broad.mit.edu	37	chr5	176523689	176523689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccggtggaggagctgttctcGctgctgcgggagggacatcg	18	10	1	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr5:176523689G>A	ENST00000292408.4	+	16	2345	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S	FGFR4_ENST00000502906.1_Silent_p.S700S|FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000292410.3_Silent_p.S660S|FGFR4_ENST00000393637.1_Silent_p.S660S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	700	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGCTGTTCTCGCTGCTGCGGG	0.652										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2098-2100)tcG>tcA		fibroblast growth factor receptor 4	Palifermin(DB00039)						66	65	65					5																	176523689		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523689G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2100G>A	5.37:g.176523689G>A		TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Silent_p.S632S|FGFR4_ENST00000393637.1_Silent_p.S660S|FGFR4_ENST00000502906.1_Silent_p.S700S|FGFR4_ENST00000292410.3_Silent_p.S660S	p.S700S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2345	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	700			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.2100G>A	CCDS4410.1																																																																																				0.652	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			11	46	0	0	0	1	0	11	46					A	176523689	G	A	176523689	2	1	175	1	0	0	0	0	0	0	0	1	5868	1074	38	1		1	FGFR4	5	176523689	Silent	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		176523689	4391571	4	3099										
F12	2161	broad.mit.edu	37	chr5	176833050	176833050	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggaagtggcagggctccccgGtgacagtgagaactgcaggg	18	9	0	2			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr5:176833050G>T	ENST00000253496.3	-	3	176	c.128C>A	c.(127-129)aCc>aAc	p.T43N	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	43	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGCTCCCCGGTGACAGTGAG	0.592									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(127-129)aCc>aAc		coagulation factor XII (Hageman factor)							82	81	82					5																	176833050		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176833050G>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.128C>A	5.37:g.176833050G>T	ENSP00000253496:p.Thr43Asn						p.T43N	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	176	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	43			Fibronectin type-II.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.128C>A	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380260	0.24944	.	.	ENSG00000131187	ENST00000253496	D	0.85258	-1.96	5.31	2.36	0.29203	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.443158	0.19188	N	0.120496	T	0.66177	0.2763	N	0.05259	-0.085	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.54193	-0.8330	10	0.32370	T	0.25	.	6.8659	0.24093	0.0:0.2022:0.3644:0.4334	.	43	P00748	FA12_HUMAN	N	43	ENSP00000253496:T43N	ENSP00000253496:T43N	T	-	2	0	F12	176765656	0.000000	0.05858	0.671000	0.29857	0.981000	0.71138	0.362000	0.20284	0.584000	0.29591	-0.230000	0.12252	ACC		0.592	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			18	35	1	0	5.35267e-07	1	6.04333e-07	18	35					T	176833050	G	T	176833050	3	4	175	1	0	0	0	0	1	0	0	0	5339	1261	44	5	1767	5	F12	5	176833050	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	309361	176833050	4082210	5	3100										
IQCE	23288	broad.mit.edu	37	chr7	2644558	2644558	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttcaggggacatctcacgcGgacaaagctcttagcaagca	10	11	3	0	rs370405991		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr7:2644558G>A	ENST00000402050.2	+	19	1860	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q|IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	559	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCACGCGGACAAAGCTC	0.622																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1675-1677)cGg>cAg		IQ motif containing E		G	GLN/ARG,GLN/ARG	0,4254		0,0,2127	54	60	58		1628,1676	4.9	0.1	7		58	1,8489		0,1,4244	no	missense,missense	IQCE	NM_001100390.1,NM_152558.3	43,43	0,1,6371	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	543/680,559/696	2644558	1,12743	2127	4245	6372	SO:0001583	missense	23288							g.chr7:2644558G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1676G>A	7.37:g.2644558G>A	ENSP00000385597:p.Arg559Gln					IQCE_ENST00000325979.7_Missense_Mutation_p.R494Q|IQCE_ENST00000438376.2_Missense_Mutation_p.R543Q|IQCE_ENST00000404984.1_Missense_Mutation_p.R508Q	p.R559Q	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	19	1860	+		Ovarian(82;0.0112)	559			IQ 1.		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.1676G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258998	0.59321	0.0	1.18E-4	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.9	4.9	0.64082	.	0.171081	0.37219	N	0.002195	T	0.73737	0.3625	M	0.71581	2.175	0.22142	N	0.999334	D;D;P;D;P	0.58620	0.983;0.97;0.825;0.97;0.791	P;P;B;P;B	0.58780	0.845;0.638;0.249;0.638;0.161	T	0.68326	-0.5438	10	0.72032	D	0.01	-13.5113	13.6658	0.62393	0.0:0.0:1.0:0.0	.	494;543;559;559;543	B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;IQCE_HUMAN;.;.	Q	559;508;543;494;139	ENSP00000385597:R559Q;ENSP00000385945:R508Q;ENSP00000396178:R543Q;ENSP00000313772:R494Q;ENSP00000405982:R139Q	ENSP00000313772:R494Q	R	+	2	0	IQCE	2611084	0.900000	0.30661	0.072000	0.20136	0.004000	0.04260	5.075000	0.64407	2.286000	0.76751	0.650000	0.86243	CGG		0.622	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		6	10	0	0	0	1	0	6	10					A	2644558	G	A	2644558	3	1	175	1	0	0	0	0	1	0	0	0	7806	1116	39	2	1750	2	IQCE	7	2644558	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		2644558	156494105	6	3101										
AKAP9	10142	broad.mit.edu	37	chr7	91711856	91711856	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	acaactactgagctatttcaTagcaatgaagaaagtggatt	8	6	1	3			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr7:91711856T>C	ENST00000359028.2	+	33	8301	c.8076T>C	c.(8074-8076)caT>caC	p.H2692H	AKAP9_ENST00000358100.2_Silent_p.H2692H|AKAP9_ENST00000356239.3_Silent_p.H2680H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2692	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCTATTTCATAGCAATGAAG	0.338			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8074-8076)caT>caC		A kinase (PRKA) anchor protein 9							68	71	70					7																	91711856		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91711856T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8076T>C	7.37:g.91711856T>C						AKAP9_ENST00000358100.2_Silent_p.H2692H|AKAP9_ENST00000356239.3_Silent_p.H2680H	p.H2692H			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		33	8301	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2692			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8076T>C																																																																																					0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		35	63	0	0	0	1	0	35	63					C	91711856	T	C	91711856	2	2	175	1	0	0	0	0	0	0	0	1	459	1403	49	4		4	AKAP9	7	91711856	Silent	SNP	T	TCGA-WB-A81W-01A-11D-A35I-08	89067298	91711856	67426807	7	3102										
ZHX2	22882	broad.mit.edu	37	chr8	123965941	123965941	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgatgtggttccacaatatTacaaggaccccaaaaagctc	8	10	0	1			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr8:123965941T>G	ENST00000314393.4	+	3	3026	c.2191T>G	c.(2191-2193)Tac>Gac	p.Y731D		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	731					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCACAATATTACAAGGACCC	0.527																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(2191-2193)Tac>Gac		zinc fingers and homeoboxes 2							96	102	100					8																	123965941		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965941T>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2191T>G	8.37:g.123965941T>G	ENSP00000314709:p.Tyr731Asp						p.Y731D	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	3026	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		731						Missense_Mutation	SNP	ENST00000314393.4	37	c.2191T>G	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	T	8.378	0.836957	0.16891	.	.	ENSG00000178764	ENST00000314393	T	0.23754	1.89	5.94	-8.73	0.00841	.	1.392090	0.04249	N	0.338273	T	0.12475	0.0303	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.34775	-0.9815	10	0.87932	D	0	-0.475	5.6419	0.17569	0.0914:0.4567:0.195:0.2568	.	731	Q9Y6X8	ZHX2_HUMAN	D	731	ENSP00000314709:Y731D	ENSP00000314709:Y731D	Y	+	1	0	ZHX2	124035122	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.058000	0.11750	-1.615000	0.01573	-0.379000	0.06801	TAC		0.527	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		13	69	0	0	0	1	0	13	69					G	123965941	T	G	123965941	3	3	175	1	0	0	0	0	1	0	0	0	17673	1754	61	5	2193	5	ZHX2	8	123965941	Missense_Mutation	SNP	T	TCGA-WB-A81W-01A-11D-A35I-08		123965941	22398081	8	3103										
CACNB2	783	broad.mit.edu	37	chr10	18828544	18828544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacgagtgcaacaagcagcGcagccgtcataaatccaagg	10	12	1	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:18828544G>A	ENST00000324631.7	+	14	1934	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R570H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H|RP11-499P20.2_ENST00000425669.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	625					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACAAGCAGCGCAGCCGTCAT	0.547																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1708-1710)cGc>cAc		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						72	64	66					10																	18828544		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828544G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1874G>A	10.37:g.18828544G>A	ENSP00000320025:p.Arg625His					RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R577H|CACNB2_ENST00000324631.7_Missense_Mutation_p.R625H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R601H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R532H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R597H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R571H|CACNB2_ENST00000377328.1_Missense_Mutation_p.R375H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R573H	p.R570H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2210	+			625					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1709G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143788	0.57044	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.86097	-1.88;1.95;-2.07;-1.87;1.95;-1.9;-1.94;-1.9;-1.91	5.7	5.7	0.88788	.	0.496751	0.20802	N	0.085403	D	0.90369	0.6986	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.992;1.0;1.0	D;D;D;D;D;D;D;D;D;D;P;D;D	0.91635	0.976;0.996;0.999;0.992;0.998;0.997;0.996;0.996;0.996;0.998;0.674;0.998;0.996	D	0.90121	0.4199	10	0.56958	D	0.05	-10.0878	19.8389	0.96675	0.0:0.0:1.0:0.0	.	539;597;375;577;547;571;581;532;573;597;587;601;625	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	625;601;375;597;573;570;532;571;577	ENSP00000320025:R625H;ENSP00000344474:R601H;ENSP00000366545:R375H;ENSP00000282343:R597H;ENSP00000366548:R573H;ENSP00000379821:R570H;ENSP00000366536:R532H;ENSP00000366546:R571H;ENSP00000366532:R577H	ENSP00000282343:R597H	R	+	2	0	CACNB2	18868550	1.000000	0.71417	0.257000	0.24404	0.346000	0.29079	7.556000	0.82233	2.703000	0.92315	0.655000	0.94253	CGC		0.547	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		11	46	0	0	0	1	0	11	46					A	18828544	G	A	18828544	3	1	175	1	0	0	0	0	1	0	0	0	2553	1087	38	1	2238	1	CACNB2	10	18828544	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		18828544	116706203	9	3104										
FAM13C	220965	broad.mit.edu	37	chr10	61083855	61083855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgactggctggataccacAtgctctgtctcctgcaagaa	9	12	3	2			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:61083855A>G	ENST00000373868.2	-	4	423	c.336T>C	c.(334-336)caT>caC	p.H112H	FAM13C_ENST00000435852.2_Silent_p.H112H|FAM13C_ENST00000373867.3_Silent_p.H29H|FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000442566.3_Silent_p.H112H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000277705.6_Silent_p.H112H|FAM13C_ENST00000419214.2_Silent_p.H112H	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	112										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGATACCACATGCTCTGTCT	0.493																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(85-87)caT>caC		family with sequence similarity 13, member C							301	267	279					10																	61083855		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61083855A>G	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.336T>C	10.37:g.61083855A>G						FAM13C_ENST00000422313.2_Silent_p.H112H|FAM13C_ENST00000373868.2_Silent_p.H112H|FAM13C_ENST00000442566.3_Silent_p.H112H|FAM13C_ENST00000435852.2_Silent_p.H112H|FAM13C_ENST00000468840.2_Silent_p.H29H|FAM13C_ENST00000419214.2_Silent_p.H112H|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Silent_p.H112H	p.H29H	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			5	552	-			112					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.87T>C	CCDS7255.1																																																																																				0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			5	145	0	0	0	1	0	5	145					G	61083855	A	G	61083855	2	3	175	1	0	0	0	0	0	0	0	1	5454	214	8	4		4	FAM13C	10	61083855	Silent	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08	42255311	61083855	74450892	10	3105										
LRRTM3	347731	broad.mit.edu	37	chr10	68687983	68687983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ccgtgctcgtcatcctgctgGttatctacgtgtcatggaag	11	11	3	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:68687983G>C	ENST00000361320.4	+	2	1887	c.1309G>C	c.(1309-1311)Gtt>Ctt	p.V437L	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	437					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CATCCTGCTGGTTATCTACGT	0.567																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1309-1311)Gtt>Ctt		leucine rich repeat transmembrane neuronal 3							89	87	87					10																	68687983		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687983G>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1309G>C	10.37:g.68687983G>C	ENSP00000355187:p.Val437Leu					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	p.V437L	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1887	+			437					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1309G>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240363	0.79912	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75938	-0.98	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000009	D	0.86690	0.5993	M	0.79475	2.455	0.80722	D	1	D;D	0.60575	0.98;0.988	P;D	0.67231	0.893;0.95	D	0.86870	0.2035	10	0.72032	D	0.01	.	19.3958	0.94607	0.0:0.0:1.0:0.0	.	437;437	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	L	437	ENSP00000355187:V437L	ENSP00000355187:V437L	V	+	1	0	LRRTM3	68357989	1.000000	0.71417	0.933000	0.37362	0.980000	0.70556	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GTT		0.567	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		5	61	0	0	0	1	0	5	61					C	68687983	G	C	68687983	3	2	175	1	0	0	0	0	1	0	0	0	9041	1261	44	5	1315	5	LRRTM3	10	68687983	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	7604128	68687983	66846764	11	3106										
FANK1	92565	broad.mit.edu	37	chr10	127693555	127693555	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgggaggctgtacagctctGcactgggctgcagatggagg	17	9	1	1	rs137911829		TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr10:127693555G>A	ENST00000368693.1	+	7	746	c.642G>A	c.(640-642)ctG>ctA	p.L214L	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Silent_p.L208L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	214						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGCTCTGCACTGGGCTG	0.532																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(622-624)ctG>ctA		fibronectin type III and ankyrin repeat domains 1		G		1,4405	2.1+/-5.4	0,1,2202	168	155	159		642	4.9	1	10	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous	FANK1	NM_145235.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		214/346	127693555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127693555G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.642G>A	10.37:g.127693555G>A						FANK1_ENST00000368693.1_Silent_p.L214L|FANK1_ENST00000477963.1_3'UTR	p.L208L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			7	746	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	214					Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.624G>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	9.448	1.089780	0.20390	2.27E-4	0.0	ENSG00000203780	ENST00000456942	.	.	.	5.79	4.89	0.63831	.	.	.	.	.	T	0.69771	0.3148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68887	-0.5290	4	.	.	.	-13.8701	13.7511	0.62908	0.0747:0.0:0.9253:0.0	.	.	.	.	Y	109	.	.	C	+	2	0	FANK1	127683545	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	4.751000	0.62169	1.457000	0.47850	0.655000	0.94253	TGC		0.532	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		5	76	0	0	0	1	0	5	76					A	127693555	G	A	127693555	2	1	175	1	0	0	0	0	0	0	0	1	5672	1306	46	3		3	FANK1	10	127693555	Silent	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	59005572	127693555	7841192	12	3107										
USP15	9958	broad.mit.edu	37	chr12	62749120	62749120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tttttcttccagtgtgaaaaActcaaattactgtcttccat	4	9	3	1			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr12:62749120A>G	ENST00000280377.5	+	8	837	c.779A>G	c.(778-780)aAc>aGc	p.N260S	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000353364.3_Missense_Mutation_p.N231S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	260					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTGTGAAAAACTCAAATTAC	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(778-780)aAc>aGc		ubiquitin specific peptidase 15							63	63	63					12																	62749120		2203	4298	6501	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749120A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.779A>G	12.37:g.62749120A>G	ENSP00000280377:p.Asn260Ser					USP15_ENST00000393654.3_Missense_Mutation_p.N235S|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.N231S	p.N260S	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	837	+			260					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.779A>G	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.306388	0.23736	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19250	2.16;2.23;2.17	5.45	5.45	0.79879	.	0.106321	0.64402	D	0.000007	T	0.24509	0.0594	M	0.61703	1.905	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.03184	-1.1063	9	.	.	.	-12.7105	15.5204	0.75862	1.0:0.0:0.0:0.0	.	260;231	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	S	231;260;235	ENSP00000258123:N231S;ENSP00000280377:N260S;ENSP00000377264:N235S	.	N	+	2	0	USP15	61035387	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.434000	0.90294	2.077000	0.62373	0.455000	0.32223	AAC		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		10	32	0	0	0	1	0	10	32					G	62749120	A	G	62749120	3	3	175	1	0	0	0	0	1	0	0	0	17043	43	2	4	718	4	USP15	12	62749120	Missense_Mutation	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08		62749120	71102775	13	3108										
KCNH5	27133	broad.mit.edu	37	chr14	63246574	63246574	+	Missense_Mutation	SNP	G	G	A													0	0	1	0	0	0	1	1	0	gtcacagtacgtcagtgcccGgacgttcgcacatgcatggg							TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr14:63246574G>A	ENST00000322893.7	-	10	2159	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	631					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCAGTGCCCGGACGTTCGCA	0.453																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1891-1893)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 5							111	99	103					14																	63246574		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246574G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1891C>T	14.37:g.63246574G>A	ENSP00000321427:p.Arg631Trp					KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573W	p.R631W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2159	-			631					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1891C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562092	0.45590	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.97186	-4.28;-4.28	5.72	4.78	0.61160	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.88	D	0.99308	1.0903	10	0.87932	D	0	.	15.117	0.72410	0.0:0.0:0.8294:0.1706	.	573;631	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	W	631;573	ENSP00000321427:R631W;ENSP00000378419:R573W	ENSP00000321427:R631W	R	-	1	2	KCNH5	62316327	1.000000	0.71417	0.993000	0.49108	0.023000	0.10783	2.500000	0.45381	1.247000	0.43917	0.585000	0.79938	CGG		0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	49	0	0	0	1	0	3	49					A	63246574	G	A	63246574	3	1	175	1	0	0	0	0	1	0	0	0	8035	1115	39	2	1117	2	KCNH5	14	63246574	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		63246574	44102966	14	3109	19	2								
KCNH5	27133	broad.mit.edu	37	chr14	63246575	63246575	+	Silent	SNP	G	G	A													0	0	1	0	0	0	1	1	0	tcacagtacgtcagtgcccgGacgttcgcacatgcatgggc							TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr14:63246575G>A	ENST00000322893.7	-	10	2158	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.V572V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	630					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCAGTGCCCGGACGTTCGCAC	0.453																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1888-1890)gtC>gtT		potassium voltage-gated channel, subfamily H (eag-related), member 5							111	99	103					14																	63246575		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246575G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1890C>T	14.37:g.63246575G>A						KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.V572V	p.V630V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	2158	-			630					C9JP98	Silent	SNP	ENST00000322893.7	37	c.1890C>T	CCDS9756.1																																																																																				0.453	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	48	0	0	0	1	0	3	48					A	63246575	G	A	63246575	2	1	175	1	0	0	0	0	0	0	0	1	8035	1161	41	3		3	KCNH5	14	63246575	Silent	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	1	63246575	44102965	15	3110	19	2								
COG7	91949	broad.mit.edu	37	chr16	23400369	23400369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gtgctggagggtgcgggacgGctgcaggcccagggcatcca	19	11	0	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr16:23400369G>A	ENST00000307149.5	-	17	2370	c.2185C>T	c.(2185-2187)Ccg>Tcg	p.P729S	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	729					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTGCGGGACGGCTGCAGGCCC	0.622																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2185-2187)Ccg>Tcg		component of oligomeric golgi complex 7							70	57	61					16																	23400369		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400369G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2185C>T	16.37:g.23400369G>A	ENSP00000305442:p.Pro729Ser						p.P729S	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2370	-			729					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.2185C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013735	0.54468	.	.	ENSG00000168434	ENST00000307149	T	0.42131	0.98	4.93	4.93	0.64822	.	0.050474	0.85682	D	0.000000	T	0.58293	0.2112	L	0.59436	1.845	0.58432	D	0.999999	D	0.61697	0.99	P	0.61533	0.89	T	0.57027	-0.7881	10	0.41790	T	0.15	-31.8218	17.4999	0.87728	0.0:0.0:1.0:0.0	.	729	P83436	COG7_HUMAN	S	729	ENSP00000305442:P729S	ENSP00000305442:P729S	P	-	1	0	COG7	23307870	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	5.164000	0.64954	2.450000	0.82876	0.561000	0.74099	CCG		0.622	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			3	43	0	0	0	1	0	3	43					A	23400369	G	A	23400369	3	1	175	1	0	0	0	0	1	0	0	0	3663	1203	42	3	131	3	COG7	16	23400369	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08		23400369	66954384	16	3111										
YBX2	51087	broad.mit.edu	37	chr17	7193313	7193313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tacctgggccggaatctgggCggggggactcgctcatctcc	15	13	3	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr17:7193313C>T	ENST00000007699.5	-	6	885	c.822G>A	c.(820-822)ccG>ccA	p.P274P	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	274	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGAATCTGGGCGGGGGGACTC	0.627																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(820-822)ccG>ccA		Y box binding protein 2							44	48	47					17																	7193313		2203	4300	6503	SO:0001819	synonymous_variant	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7193313C>T	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.822G>A	17.37:g.7193313C>T							p.P274P	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			6	885	-			274			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Silent	SNP	ENST00000007699.5	37	c.822G>A	CCDS11098.1																																																																																				0.627	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		4	18	0	0	0	1	0	4	18					T	7193313	C	T	7193313	2	4	175	1	0	0	0	0	0	0	0	1	17467	755	27	1		1	YBX2	17	7193313	Silent	SNP	C	TCGA-WB-A81W-01A-11D-A35I-08		7193313	74001897	17	3112										
ZNF823	55552	broad.mit.edu	37	chr19	11833345	11833345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caaagcctttcccacatatcTtacatttatgtggtccgtct	5	12	2	0			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr19:11833345T>C	ENST00000341191.6	-	4	1157	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCCACATATCTTACATTTATG	0.418										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1003-1005)aAg>aGg		zinc finger protein 823							143	137	139					19																	11833345		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11833345T>C	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1004A>G	19.37:g.11833345T>C	ENSP00000340683:p.Lys335Arg	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Missense_Mutation_p.K153R	p.K335R	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1157	-			335					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1004A>G	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	t	15.98	2.994023	0.54041	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.07688	3.17;3.17;3.17	0.632	-0.803	0.10886	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.12746	0.255	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24297	-1.0164	9	0.62326	D	0.03	.	0.0787	0.00029	0.2359:0.2132:0.2363:0.3146	.	335	P16415	ZN823_HUMAN	R	153;335;291	ENSP00000440162:K153R;ENSP00000340683:K335R;ENSP00000410654:K291R	ENSP00000340683:K335R	K	-	2	0	ZNF823	11694345	0.000000	0.05858	0.002000	0.10522	0.902000	0.53008	-2.944000	0.00681	-0.373000	0.07979	0.248000	0.18094	AAG		0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		51	66	0	0	0	1	0	51	66					C	11833345	T	C	11833345	3	2	175	1	0	0	0	0	1	0	0	0	18176	1609	56	4	832	4	ZNF823	19	11833345	Missense_Mutation	SNP	T	TCGA-WB-A81W-01A-11D-A35I-08		11833345	47295638	18	3113										
ZNF491	126069	broad.mit.edu	37	chr19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caatttttccagttcctttcGcagacatgaaaggacacaca	6	11	0	2			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(607-609)cGc>cAc		zinc finger protein 491							55	55	55					19																	11917376		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917376G>A	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"Zinc fingers, C2H2-type"	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.608G>A	19.37:g.11917376G>A	ENSP00000313443:p.Arg203His					ZNF491_ENST00000492230.1_Intron	p.R203H	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	939	+			203					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.608G>A	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	ZNF491	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC		0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		13	29	0	0	0	1	0	13	29					A	11917376	G	A	11917376	3	1	175	1	0	0	0	0	1	0	0	0	17939	1087	38	1	610	1	ZNF491	19	11917376	Missense_Mutation	SNP	G	TCGA-WB-A81W-01A-11D-A35I-08	84031	11917376	47211607	19	3114										
CSTF1	1477	broad.mit.edu	37	chr20	54970613	54970613	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cttccttttctccaagatgtAcagaaccaaagtgggcttga	8	10	1	3			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:54970613A>T	ENST00000217109.4	+	2	357	c.5A>T	c.(4-6)tAc>tTc	p.Y2F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	2					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCCAAGATGTACAGAACCAAA	0.493																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(4-6)tAc>tTc		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							56	47	50					20																	54970613		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54970613A>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.5A>T	20.37:g.54970613A>T	ENSP00000217109:p.Tyr2Phe					CSTF1_ENST00000493039.1_3'UTR	p.Y2F	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		2	357	+			2					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.5A>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.777995	0.31502	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	T;T;T	0.57752	0.38;0.42;0.38	5.27	5.27	0.74061	.	0.169544	0.53938	D	0.000046	T	0.27489	0.0675	N	0.02011	-0.69	0.43803	D	0.996352	B	0.02656	0.0	B	0.04013	0.001	T	0.12091	-1.0561	10	0.22109	T	0.4	-0.7535	15.4889	0.75590	1.0:0.0:0.0:0.0	.	2	Q05048	CSTF1_HUMAN	F	2	ENSP00000387968:Y2F;ENSP00000217109:Y2F;ENSP00000409035:Y2F	ENSP00000217109:Y2F	Y	+	2	0	CSTF1	54404020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.853000	0.55941	2.116000	0.64780	0.482000	0.46254	TAC		0.493	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		3	28	0	0	0	1	0	3	28					T	54970613	A	T	54970613	3	4	175	1	0	0	0	0	1	0	0	0	3983	391	14	5	7	5	CSTF1	20	54970613	Missense_Mutation	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08		54970613	8054907	20	3115										
PRPF6	57473	broad.mit.edu	37	chr20	62626273	62626273	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ggctggatatttccagaggaAgttggcagaagtcacagaag	14	6	1	3			TCGA-WB-A81W-01A-11D-A35I-08	TCGA-WB-A81W-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d9f4548-e7f8-4f9a-a6ce-f5d3d81570ee	fdc71fac-fc42-48b8-8615-5ec0658f2124	g.chr20:62626273A>G	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K148R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTCCAGAGGAAGTTGGCAGAA	0.517																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(442-444)aAg>aGg		pre-mRNA processing factor 6							71	75	74					20																	62626273		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62626273A>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-26965T>C	20.37:g.62626273A>G						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.K148R			O94906	PRP6_HUMAN			5	554	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		148					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.443A>G	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238230	0.79800	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.77877	-1.13;-1.13	5.71	5.71	0.89125	PRP1 splicing factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	L	0.54323	1.7	0.80722	D	1	B;P	0.37141	0.14;0.584	B;B	0.33960	0.077;0.173	T	0.72144	-0.4379	10	0.31617	T	0.26	.	15.988	0.80176	1.0:0.0:0.0:0.0	.	148;148	O94906-2;O94906	.;PRP6_HUMAN	R	148	ENSP00000266079:K148R;ENSP00000446216:K148R	ENSP00000266079:K148R	K	+	2	0	PRPF6	62096717	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.254000	0.95512	2.188000	0.69820	0.533000	0.62120	AAG		0.517	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	32	0	0	0	1	0	3	32					G	62626273	A	G	62626273	1	3	175	0	1	0	0	0	0	0	0	0	12574	72	3	4		4	PRPF6	20	62626273	Intron	SNP	A	TCGA-WB-A81W-01A-11D-A35I-08	7655660	62626273	399247	21	3116										
BEND5	79656	broad.mit.edu	37	chr1	49224701	49224701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	taccagctgcctccgagtccGctccagctcctgctggaggt	11	16	0	0	rs150209705	byFrequency	TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:49224701G>A	ENST00000371833.3	-	3	702	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	206						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						CTCCGAGTCCGCTCCAGCTCC	0.587													G|||	2	0.000399361	0.0015	0	5008	,	,		21115	0		0	False		,,,				2504	0					ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(616-618)Cgg>Tgg		BEN domain containing 5							98	92	94					1																	49224701		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49224701G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.616C>T	1.37:g.49224701G>A	ENSP00000360899:p.Arg206Trp					AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR	p.R206W	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			3	702	-			206					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.616C>T	CCDS552.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	19.81	3.896324	0.72639	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.52099	D	0.999947	D	0.89917	1.0	D	0.75020	0.985	T	0.57260	-0.7842	8	.	.	.	-19.1073	12.259	0.54638	0.0:0.0:0.7338:0.2662	.	206	Q7L4P6	BEND5_HUMAN	W	206	.	.	R	-	1	2	BEND5	48997288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.406000	0.52637	2.699000	0.92147	0.655000	0.94253	CGG		0.587	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		4	69	0	0	0	1	0	4	69					A	49224701	G	A	49224701	3	1	176	1	0	0	0	0	1	0	0	0	1401	1086	38	1	665	1	BEND5	1	49224701	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		49224701	200025920	1	3117										
EXTL2	2135	broad.mit.edu	37	chr1	101339869	101339869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	tccaatcagcaccatagagtActggtcaccatttccagacc	6	14	2	2			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:101339869A>G	ENST00000370114.3	-	5	2058	c.622T>C	c.(622-624)Tac>Cac	p.Y208H	EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H|EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	208					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ACCATAGAGTACTGGTCACCA	0.413																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(622-624)Tac>Cac		exostosin-like glycosyltransferase 2							48	47	47					1																	101339869		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339869A>G	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"Exostosin glycosyltransferase family"	3516	protein-coding gene	gene with protein product	"alpha-1,4-N-acteylhexosaminyltransferase"	602411	"exostoses (multiple)-like 2"			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.622T>C	1.37:g.101339869A>G	ENSP00000359132:p.Tyr208His					EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H|EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H	p.Y208H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2058	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	208					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.622T>C	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326895	0.81690	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.88	5.88	0.94601	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96838	0.9616	10	0.87932	D	0	-21.3736	16.2794	0.82664	1.0:0.0:0.0:0.0	.	207;208	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	H	208;208;195;216	ENSP00000359132:Y208H;ENSP00000359131:Y208H;ENSP00000444385:Y195H;ENSP00000403363:Y216H	ENSP00000359131:Y208H	Y	-	1	0	EXTL2	101112457	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.962000	0.93254	2.251000	0.74343	0.482000	0.46254	TAC		0.413	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		3	46	0	0	0	1	0	3	46					G	101339869	A	G	101339869	3	3	176	1	0	0	0	0	1	0	0	0	5326	391	14	4	374	4	EXTL2	1	101339869	Missense_Mutation	SNP	A	TCGA-WB-A820-01A-11D-A35I-08	52115168	101339869	147910752	2	3118										
PTPN14	5784	broad.mit.edu	37	chr1	214537876	214537876	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	tcgttatgttccaagcagtaGatcatcagctcagaaagaat	8	8	3	3			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr1:214537876G>C	ENST00000366956.5	-	18	3608	c.3414C>G	c.(3412-3414)atC>atG	p.I1138M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1138	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCAAGCAGTAGATCATCAGCT	0.567																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3412-3414)atC>atG		protein tyrosine phosphatase, non-receptor type 14							114	107	109					1																	214537876		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214537876G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3414C>G	1.37:g.214537876G>C	ENSP00000355923:p.Ile1138Met					PTPN14_ENST00000543945.1_3'UTR	p.I1138M	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	18	3608	-			1138			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3414C>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343312	0.61073	.	.	ENSG00000152104	ENST00000366956	D	0.83992	-1.79	5.5	3.46	0.39613	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.051393	0.85682	D	0.000000	T	0.80428	0.4621	L	0.35487	1.065	0.80722	D	1	P	0.38711	0.643	P	0.57776	0.827	T	0.75039	-0.3458	10	0.21014	T	0.42	.	2.4223	0.04451	0.2467:0.0:0.4607:0.2926	.	1138	Q15678	PTN14_HUMAN	M	1138	ENSP00000355923:I1138M	ENSP00000355923:I1138M	I	-	3	3	PTPN14	212604499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.062000	0.41413	2.581000	0.87130	0.655000	0.94253	ATC		0.567	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		10	46	0	0	0	1	0	10	46					C	214537876	G	C	214537876	3	2	176	1	0	0	0	0	1	0	0	0	12783	932	33	5	157	5	PTPN14	1	214537876	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	113198007	214537876	34712745	3	3119										
QPCT	25797	broad.mit.edu	37	chr2	37594434	37594434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	atcttctttgatggtgaagaGgcttttcttcactggtctcc	9	9	5	3			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:37594434G>A	ENST00000338415.3	+	4	764	c.606G>A	c.(604-606)gaG>gaA	p.E202E	QPCT_ENST00000537448.1_Silent_p.E153E	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	202					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ATGGTGAAGAGGCTTTTCTTC	0.458																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(604-606)gaG>gaA		glutaminyl-peptide cyclotransferase							130	127	128					2																	37594434		2203	4300	6503	SO:0001819	synonymous_variant	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37594434G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.606G>A	2.37:g.37594434G>A						QPCT_ENST00000537448.1_Silent_p.E153E	p.E202E	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN			4	764	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	202					Q16770|Q3KRG6|Q53TR4	Silent	SNP	ENST00000338415.3	37	c.606G>A	CCDS1790.1																																																																																				0.458	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			22	73	0	0	0	1	0	22	73					A	37594434	G	A	37594434	2	1	176	1	0	0	0	0	0	0	0	1	12874	991	35	3		3	QPCT	2	37594434	Silent	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		37594434	205604939	4	3120										
THSD7B	80731	broad.mit.edu	37	chr2	138413157	138413157	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	tctcatgcagctggacgtgtCgaggatgcactgtgtggaga	15	8	1	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:138413157C>T	ENST00000409968.1	+	22	4210	c.4032C>T	c.(4030-4032)gtC>gtT	p.V1344V	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.V1347V|THSD7B_ENST00000413152.2_Silent_p.V1316V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1346	TSP type-1 17. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGGACGTGTCGAGGATGCAC	0.537																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4030-4032)gtC>gtT		thrombospondin, type I, domain containing 7B							88	88	88					2																	138413157		2113	4228	6341	SO:0001819	synonymous_variant	80731							g.chr2:138413157C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4032C>T	2.37:g.138413157C>T						THSD7B_ENST00000272643.3_Silent_p.V1347V|THSD7B_ENST00000413152.2_Silent_p.V1316V|THSD7B_ENST00000543459.1_Intron	p.V1344V						BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4210	+									Silent	SNP	ENST00000409968.1	37	c.4032C>T																																																																																					0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	6	0	0	0	1	0	4	6					T	138413157	C	T	138413157	2	4	176	1	0	0	0	0	0	0	0	1	15877	871	31	2		2	THSD7B	2	138413157	Silent	SNP	C	TCGA-WB-A820-01A-11D-A35I-08	100818723	138413157	104786216	5	3121										
TTN	7273	broad.mit.edu	37	chr2	179495667	179495667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	gtcgcaccagtttaatttccCgatctagaaaagtgaagggc	10	9	1	2			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr2:179495667C>A	ENST00000591111.1	-	188	39319	c.39095G>T	c.(39094-39096)cGg>cTg	p.R13032L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN_ENST00000589042.1_Missense_Mutation_p.R14673L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13032	Ig-like 86.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAATTTCCCGATCTAGAAA	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(44017-44019)cGg>cTg		titin							73	71	72					2																	179495667		1906	4121	6027	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179495667C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39095G>T	2.37:g.179495667C>A	ENSP00000465570:p.Arg13032Leu					TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13032L	p.R14673L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		238	44242	-			13032			Ig-like 96.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.44018G>T		.	.	.	.	.	.	.	.	.	.	C	17.89	3.500091	0.64298	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.17	6.17	0.99709	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74359	0.3706	M	0.91612	3.225	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.78173	-0.2307	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5608;5733;5800;13032	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	12105;5608;5800;5733;5608	ENSP00000343764:R12105L;ENSP00000434586:R5608L;ENSP00000340554:R5800L;ENSP00000352154:R5733L	ENSP00000340554:R5800L	R	-	2	0	TTN	179203912	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	CGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	28	1	0	0.115264	1	0.115264	3	28					A	179495667	C	A	179495667	3	1	176	1	0	0	0	0	1	0	0	0	16732	652	23	5	64175	5	TTN	2	179495667	Missense_Mutation	SNP	C	TCGA-WB-A820-01A-11D-A35I-08	41082510	179495667	63703706	6	3122										
TATDN2	9797	broad.mit.edu	37	chr3	10318140	10318140	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	gatctgctagaaatcatgaaAaagtttgtgccccctgacta	8	9	2	3			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr3:10318140A>G	ENST00000287652.4	+	5	2980	c.1929A>G	c.(1927-1929)aaA>aaG	p.K643K	TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.K643K|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	643					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AAATCATGAAAAAGTTTGTGC	0.468																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1927-1929)aaA>aaG		TatD DNase domain containing 2							82	75	78					3																	10318140		2203	4300	6503	SO:0001819	synonymous_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10318140A>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1929A>G	3.37:g.10318140A>G						TATDN2_ENST00000448281.2_Silent_p.K643K|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR	p.K643K	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			5	2980	+			643					Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	c.1929A>G	CCDS33698.1																																																																																				0.468	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		4	79	0	0	0	1	0	4	79					G	10318140	A	G	10318140	2	3	176	1	0	0	0	0	0	0	0	1	15589	11	1	4		4	TATDN2	3	10318140	Silent	SNP	A	TCGA-WB-A820-01A-11D-A35I-08		10318140	187704290	7	3123										
KLC4	89953	broad.mit.edu	37	chr6	43034200	43034200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	ggcactagaggacctggagcGcacatcaggccgtggccacc	14	14	1	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr6:43034200G>A	ENST00000394056.2	+	6	1223	c.728G>A	c.(727-729)cGc>cAc	p.R243H	KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000259708.3_Missense_Mutation_p.R261H|KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000453940.2_Missense_Mutation_p.R166H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	243						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GACCTGGAGCGCACATCAGGC	0.597																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(727-729)cGc>cAc		kinesin light chain 4							147	109	122					6																	43034200		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43034200G>A	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.728G>A	6.37:g.43034200G>A	ENSP00000377620:p.Arg243His					KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000453940.2_Missense_Mutation_p.R166H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H|KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000259708.3_Missense_Mutation_p.R261H	p.R243H			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		6	1223	+			243					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.728G>A	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500486	0.85176	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.47	3.59	0.41128	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.122449	0.36101	N	0.002797	T	0.30823	0.0777	L	0.46157	1.445	0.41786	D	0.989846	D;P;D;D	0.65815	0.995;0.954;0.963;0.985	P;P;P;P	0.55713	0.778;0.584;0.515;0.782	T	0.33879	-0.9851	10	0.87932	D	0	-16.5334	3.3713	0.07222	0.2064:0.0:0.5745:0.2191	.	166;261;243;243	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	H	243;166;156;221;243;261;243;243;243	ENSP00000340221:R243H;ENSP00000395806:R166H;ENSP00000419784:R156H;ENSP00000417652:R221H;ENSP00000410358:R243H;ENSP00000259708:R261H;ENSP00000418031:R243H;ENSP00000377620:R243H;ENSP00000377622:R243H	ENSP00000259708:R261H	R	+	2	0	KLC4	43142178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.314000	0.78988	1.211000	0.43351	0.650000	0.86243	CGC		0.597	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		3	44	0	0	0	1	0	3	44					A	43034200	G	A	43034200	3	1	176	1	0	0	0	0	1	0	0	0	8336	1087	38	1	800	1	KLC4	6	43034200	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		43034200	128080867	8	3124										
SHPRH	257218	broad.mit.edu	37	chr6	146262866	146262866	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	atagcgcttctggttccgtaGgcgacgcccatcctcactat	9	14	2	0			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr6:146262866G>T	ENST00000367505.2	-	10	2647	c.2383C>A	c.(2383-2385)Cta>Ata	p.L795I	SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I|SHPRH_ENST00000367503.3_Missense_Mutation_p.L795I			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	795	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGGTTCCGTAGGCGACGCCCA	0.483																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(2383-2385)Cta>Ata		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							74	80	78					6																	146262866		2026	4190	6216	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262866G>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2383C>A	6.37:g.146262866G>T	ENSP00000356475:p.Leu795Ile					SHPRH_ENST00000367505.2_Missense_Mutation_p.L795I|SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I	p.L795I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2781	-		Ovarian(120;0.0365)	795			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2383C>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495734	0.44352	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.69	0.988	0.19796	DEAD-like helicase (1);SNF2-related (1);	0.252546	0.31472	N	0.007591	T	0.81941	0.4929	L	0.39467	1.215	0.39738	D	0.971701	P;B;B	0.42296	0.775;0.243;0.204	B;B;B	0.38156	0.266;0.13;0.079	T	0.77905	-0.2413	10	0.48119	T	0.1	-2.2272	8.7633	0.34687	0.8031:0.0:0.1969:0.0	.	684;795;795	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	I	795	ENSP00000356475:L795I;ENSP00000356473:L795I;ENSP00000412797:L795I;ENSP00000275233:L795I	ENSP00000275233:L795I	L	-	1	2	SHPRH	146304559	1.000000	0.71417	0.125000	0.21846	0.780000	0.44128	5.240000	0.65378	0.243000	0.21327	-0.157000	0.13467	CTA		0.483	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		5	39	1	0	0.014758	1	0.0158512	5	39					T	146262866	G	T	146262866	3	4	176	1	0	0	0	0	1	0	0	0	14291	991	35	5	2796	5	SHPRH	6	146262866	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	103228666	146262866	24852201	9	3125										
RP9	6100	broad.mit.edu	37	chr7	33136944	33136944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	aagggcattctttgtcacccGttcggtgaccatagcgtttg	11	10	2	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr7:33136944G>A	ENST00000297157.3	-	4	361	c.344C>T	c.(343-345)aCg>aTg	p.T115M		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	115	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TTTGTCACCCGTTCGGTGACC	0.378																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(343-345)aCg>aTg		retinitis pigmentosa 9 (autosomal dominant)							105	99	101					7																	33136944		2203	4300	6503	SO:0001583	missense	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136944G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"Pim-1 kinase associated protein"	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.344C>T	7.37:g.33136944G>A	ENSP00000297157:p.Thr115Met						p.T115M	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		4	361	-			115			PIM1-binding (By similarity).			Missense_Mutation	SNP	ENST00000297157.3	37	c.344C>T	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004880	0.74932	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;T	0.84800	-1.9;-1.04	3.77	3.77	0.43336	Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.64237	0.923	D	0.91800	0.5451	10	0.87932	D	0	-45.3719	16.449	0.83973	0.0:0.0:1.0:0.0	.	115	Q8TA86	RP9_HUMAN	M	115;81	ENSP00000297157:T115M;ENSP00000411577:T81M	ENSP00000297157:T115M	T	-	2	0	RP9	33103469	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	7.079000	0.76829	2.028000	0.59812	0.400000	0.26472	ACG		0.378	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		23	45	0	0	0	1	0	23	45					A	33136944	G	A	33136944	3	1	176	1	0	0	0	0	1	0	0	0	13535	1145	40	1	333	1	RP9	7	33136944	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		33136944	126001719	10	3126										
MAN1B1	11253	broad.mit.edu	37	chr9	140001177	140001177	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	gtggaagccatcgagggtgtCagaacgcacctgctgcggca	15	11	1	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr9:140001177C>A	ENST00000371589.4	+	10	1555	c.1482C>A	c.(1480-1482)gtC>gtA	p.V494V	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.V197V	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	494					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCGAGGGTGTCAGAACGCACC	0.627																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1480-1482)gtC>gtA		mannosidase, alpha, class 1B, member 1							105	85	92					9																	140001177		2203	4300	6503	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140001177C>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1482C>A	9.37:g.140001177C>A						MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.V197V	p.V494V	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	10	1555	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	494					Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1482C>A	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	4.997	0.185094	0.09495	.	.	ENSG00000177239	ENST00000535144	.	.	.	4.95	-3.3	0.05003	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.51482	D	0.99992	.	.	.	.	.	.	T	0.54892	-0.8225	4	.	.	.	.	11.5798	0.50885	0.1523:0.4056:0.4421:0.0	.	.	.	.	K	468	.	.	Q	+	1	0	MAN1B1	139120998	0.889000	0.30405	0.000000	0.03702	0.000000	0.00434	-0.091000	0.11146	-0.794000	0.04468	-1.086000	0.02197	CAG		0.627	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		3	23	1	0	0.115264	1	0.115264	3	23					A	140001177	C	A	140001177	2	1	176	1	0	0	0	0	0	0	0	1	9212	813	29	5		5	MAN1B1	9	140001177	Silent	SNP	C	TCGA-WB-A820-01A-11D-A35I-08		140001177	1212254	11	3127										
AGAP11	119385	broad.mit.edu	37	chr10	88769022	88769022	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	gcagtcgatccaaaacatgcGtgggaactcccactgcgtgg	12	12	0	0			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr10:88769022G>A	ENST00000444431.1	+	0	3622				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CAAAACATGCGTGGGAACTCC	0.552																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							146	157	153					10																	88769022		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769022G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769022G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3622	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.552	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		6	211	0	0	0	1	0	6	211					A	88769022	G	A	88769022	1	1	176	0	1	0	0	0	0	0	0	0	367	1145	40	1		1	AGAP11	10	88769022	RNA	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		88769022	46765725	12	3128										
UBC	7316	broad.mit.edu	37	chr12	125397415	125397415	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	aagatctgcatcccacctctGagacggagcaccaggtgcag	11	13	2	2			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L301L			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(901-903)ctC>ctT		ubiquitin C							69	61	64					12																	125397415		2202	4284	6486	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397415G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.903C>T	12.37:g.125397415G>A						UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L301L	p.L301L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2479	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.903C>T	CCDS9260.1																																																																																				0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	121	0	0	0	1	0	4	121					A	125397415	G	A	125397415	2	1	176	1	0	0	0	0	0	0	0	1	16839	1277	45	3		3	UBC	12	125397415	Silent	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		125397415	8454480	13	3129										
LMAN1L	79748	broad.mit.edu	37	chr15	75113473	75113474	+	Frame_Shift_Del	DEL	CT	CT	-													0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	acaccgccggatcctgcaggCtctgcggggtctctccaagc							TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr15:75113473_75113474delCT	ENST00000309664.5	+	9	1104_1105	c.965_966delCT	c.(964-966)gctfs	p.A322fs	LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.A310fs|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	322						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTGCAGGCTCTGCGGGGTC	0.653																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(964-966)gfs		lectin, mannose-binding, 1 like																																				SO:0001589	frameshift_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75113473_75113474delCT	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.965_966delCT	15.37:g.75113475_75113476delCT	ENSP00000310431:p.Ala322fs					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.A310fs	p.A322fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			9	1104_1105	+			322					Q6UWN2	Frame_Shift_Del	DEL	ENST00000309664.5	37	c.965_966delCT	CCDS10270.1																																																																																				0.653	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			2	4						2	4	---	---	---	---	-	75113474	CT	-	75113473	7	5	176	1	0	1	0	1	0	0	0	0	8837	797	28	0	999	0	LMAN1L	15	75113473	Frame_Shift_Del	DEL	CT	TCGA-WB-A820-01A-11D-A35I-08		75113473	27417919	14	3130										
PRSS27	83886	broad.mit.edu	37	chr16	2763562	2763562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	cttcttgccctcctcgaagcCggcgcacagcatgtcattct	8	16	3	0	rs373033323		TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:2763562C>T	ENST00000302641.3	-	5	700	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	216	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TCCTCGAAGCCGGCGCACAGC	0.582																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(646-648)Ggc>Agc		protease, serine 27		C	SER/GLY	1,4395		0,1,2197	249	177	202		646	5.3	1	16		202	1,8599		0,1,4299	no	missense	PRSS27	NM_031948.3	56	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	216/291	2763562	2,12994	2198	4300	6498	SO:0001583	missense	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2763562C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.646G>A	16.37:g.2763562C>T	ENSP00000306390:p.Gly216Ser						p.G216S	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			5	700	-			216			Peptidase S1.			Missense_Mutation	SNP	ENST00000302641.3	37	c.646G>A	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	17.79	3.476705	0.63737	2.27E-4	1.16E-4	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.90676	-2.71	5.26	5.26	0.73747	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.120193	0.37715	N	0.001962	D	0.95408	0.8509	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.959	D	0.95928	0.8936	10	0.87932	D	0	.	16.3571	0.83239	0.0:1.0:0.0:0.0	.	216;180	Q9BQR3;B3KP25	PRS27_HUMAN;.	S	216;180	ENSP00000306390:G216S	ENSP00000306390:G216S	G	-	1	0	PRSS27	2703563	0.998000	0.40836	0.994000	0.49952	0.036000	0.12997	4.857000	0.62939	2.460000	0.83146	0.442000	0.29010	GGC		0.582	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		5	119	0	0	0	1	0	5	119					T	2763562	C	T	2763562	3	4	176	1	0	0	0	0	1	0	0	0	12621	652	23	2	234	2	PRSS27	16	2763562	Missense_Mutation	SNP	C	TCGA-WB-A820-01A-11D-A35I-08		2763562	87591191	15	3131										
PMFBP1	83449	broad.mit.edu	37	chr16	72188312	72188312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	actgtttactggacccaaatTccacctctgactcctcgaat	5	14	1	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr16:72188312T>C	ENST00000237353.10	-	4	473	c.212A>G	c.(211-213)gAa>gGa	p.E71G	PMFBP1_ENST00000537465.1_Missense_Mutation_p.E71G|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	71						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGACCCAAATTCCACCTCTGA	0.433																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(211-213)gAa>gGa		polyamine modulated factor 1 binding protein 1							160	140	147					16																	72188312		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188312T>C	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.212A>G	16.37:g.72188312T>C	ENSP00000237353:p.Glu71Gly					PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E71G|PMFBP1_ENST00000543746.1_5'UTR	p.E71G			Q8TBY8	PMFBP_HUMAN			4	370	-		Ovarian(137;0.179)	71					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.212A>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743627	0.89663	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172	T;T	0.16196	2.36;2.36	6.01	4.91	0.64330	.	0.402385	0.21520	N	0.073236	T	0.11239	0.0274	N	0.14661	0.345	0.25488	N	0.987673	P;P	0.36909	0.573;0.573	B;B	0.36666	0.23;0.23	T	0.12578	-1.0542	10	0.72032	D	0.01	-2.1935	10.3467	0.43909	0.0:0.0:0.1651:0.8349	.	71;71	Q8TBY8-2;G3V1Q7	.;.	G	71	ENSP00000443817:E71G;ENSP00000237353:E71G	ENSP00000237353:E71G	E	-	2	0	PMFBP1	70745813	0.025000	0.19082	0.003000	0.11579	0.796000	0.44982	2.443000	0.44881	1.085000	0.41206	0.528000	0.53228	GAA		0.433	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		4	111	0	0	0	1	0	4	111					C	72188312	T	C	72188312	3	2	176	1	0	0	0	0	1	0	0	0	12134	1783	62	4	2943	4	PMFBP1	16	72188312	Missense_Mutation	SNP	T	TCGA-WB-A820-01A-11D-A35I-08	69424750	72188312	18166441	16	3132										
NFIC	4782	broad.mit.edu	37	chr19	3382111	3382111	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	ttcaagggcatcccgctggaGagcaccgacggcgagcgcct	14	14	1	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:3382111G>A	ENST00000443272.2	+	2	483	c.432G>A	c.(430-432)gaG>gaA	p.E144E	NFIC_ENST00000341919.3_Silent_p.E144E|NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000589123.1_Silent_p.E135E|NFIC_ENST00000395111.3_Silent_p.E135E|NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000346156.5_Silent_p.E135E	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	144					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TCCCGCTGGAGAGCACCGACG	0.667																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(403-405)gaG>gaA		nuclear factor I/C (CCAAT-binding transcription factor)							67	71	70					19																	3382111		2203	4299	6502	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3382111G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.432G>A	19.37:g.3382111G>A						NFIC_ENST00000443272.2_Silent_p.E144E|NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000346156.5_Silent_p.E135E|NFIC_ENST00000395111.3_Silent_p.E135E|NFIC_ENST00000341919.3_Silent_p.E144E	p.E135E	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	525	+		Hepatocellular(1079;0.137)	144					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.405G>A	CCDS59330.1																																																																																				0.667	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		28	83	0	0	0	1	0	28	83					A	3382111	G	A	3382111	2	1	176	1	0	0	0	0	0	0	0	1	10372	933	33	3		3	NFIC	19	3382111	Silent	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		3382111	55746872	17	3133										
DPP9	91039	broad.mit.edu	37	chr19	4704312	4704312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	agtagaccccatggtggggcGtggcctggaaacatacaggg	16	9	0	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:4704312G>A	ENST00000598800.1	-	7	849	c.344C>T	c.(343-345)aCg>aTg	p.T115M	DPP9_ENST00000597849.1_Missense_Mutation_p.T144M|DPP9_ENST00000262960.9_Missense_Mutation_p.T144M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	115						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATGGTGGGGCGTGGCCTGGAA	0.647																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(430-432)aCg>aTg		dipeptidyl-peptidase 9							52	57	55					19																	4704312		1983	4139	6122	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704312G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.344C>T	19.37:g.4704312G>A	ENSP00000469603:p.Thr115Met					DPP9_ENST00000597849.1_Missense_Mutation_p.T144M|DPP9_ENST00000598800.1_Missense_Mutation_p.T115M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M	p.T144M	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	708	-		Hepatocellular(1079;0.137)	115					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.014449	0.75161	.	.	ENSG00000142002	ENST00000357909;ENST00000262960	T	0.32988	1.43	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.47716	1.5	0.80722	D	1	P;D	0.63046	0.607;0.992	B;P	0.58520	0.154;0.84	T	0.21621	-1.0240	10	0.38643	T	0.18	-17.2919	16.6576	0.85232	0.0:0.0:1.0:0.0	.	115;144	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	M	223;144	ENSP00000262960:T144M	ENSP00000262960:T144M	T	-	2	0	DPP9	4655312	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.404000	0.66344	2.424000	0.82194	0.561000	0.74099	ACG		0.647	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			28	59	0	0	0	1	0	28	59					A	4704312	G	A	4704312	3	1	176	1	0	0	0	0	1	0	0	0	4733	1145	40	1	2315	1	DPP9	19	4704312	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	1322201	4704312	54424671	18	3134										
MUC16	94025	broad.mit.edu	37	chr19	9060544	9060544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	ggtggaagaggtgaccactgGagatgtcactttggatggct	16	6	1	3	rs558927351		TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr19:9060544G>A	ENST00000397910.4	-	3	27105	c.26902C>T	c.(26902-26904)Cca>Tca	p.P8968S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8970	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P8968A(2)|p.P4601A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACCACTGGAGATGTCACT	0.463													g|||	1	0.000199681	8e-04	0	5008	,	,		22725	0		0	False		,,,				2504	0					ENST00000397910.4																			3	Substitution - Missense(3)	p.P8968A(2)|p.P4601A(1)	lung(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26902-26904)Cca>Tca		mucin 16, cell surface associated							209	194	199					19																	9060544		1978	4169	6147	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060544G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26902C>T	19.37:g.9060544G>A	ENSP00000381008:p.Pro8968Ser						p.P8968S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27105	-			8970			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26902C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.735	0.320013	0.10845	.	.	ENSG00000181143	ENST00000397910	T	0.62498	0.02	2.62	-1.32	0.09201	.	.	.	.	.	T	0.47967	0.1474	L	0.43923	1.385	.	.	.	B	0.32573	0.376	B	0.32583	0.148	T	0.49925	-0.8887	8	0.87932	D	0	.	4.4305	0.11525	0.168:0.4839:0.3481:0.0	.	8968	B5ME49	.	S	8968	ENSP00000381008:P8968S	ENSP00000381008:P8968S	P	-	1	0	MUC16	8921544	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.716000	0.04991	-0.160000	0.11002	0.306000	0.20318	CCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	110	0	0	0	1	0	12	110					A	9060544	G	A	9060544	3	1	176	1	0	0	0	0	1	0	0	0	9973	1174	41	3	16949	3	MUC16	19	9060544	Missense_Mutation	SNP	G	TCGA-WB-A820-01A-11D-A35I-08	4356232	9060544	50068439	19	3135										
U2AF1	7307	broad.mit.edu	37	chr21	44521486	44521486	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	tgggacttacagtgtgagccGtcagccgtctgtgcactgtt	13	10	2	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr21:44521486G>A	ENST00000291552.4	-	3	225				U2AF1_ENST00000380276.2_Silent_p.D63D|U2AF1_ENST00000398137.1_De_novo_Start_InFrame|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000459639.1_Intron	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						AGTGTGAGCCGTCAGCCGTCT	0.413			Mis		"CLL, MDS"																																	ENST00000398137.1				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126								U2 small nuclear RNA auxiliary factor 1							275	301	292					21																	44521486		2203	4300	6503	SO:0001627	intron_variant	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44521486G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.133-857C>T	21.37:g.44521486G>A						U2AF1_ENST00000380276.2_Silent_p.D63D|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000486519.1_Intron		NM_001025204.1	NP_001020375.1	Q01081	U2AF1_HUMAN			0	272	-								Q701P4|Q71RF1	Translation_Start_Site	SNP	ENST00000291552.4	37		CCDS13694.1																																																																																				0.413	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		4	286	0	0	0	1	0	4	286					A	44521486	G	A	44521486	1	1	176	0	1	0	0	0	0	0	0	0	16818	1136	40	1		1	U2AF1	21	44521486	Intron	SNP	G	TCGA-WB-A820-01A-11D-A35I-08		44521486	3608409	20	3136										
PVALB	5816	broad.mit.edu	37	chr22	37211274	37211274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	ctttttgtggtcgaaggagtCggtagctgtggggggaagag	19	4	0	1			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr22:37211274C>T	ENST00000216200.5	-	3	122	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PVALB_ENST00000404171.1_5'UTR|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.D23N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	23					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						TCGAAGGAGTCGGTAGCTGTG	0.507																																						ENST00000216200.5																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(67-69)Gac>Aac		parvalbumin							90	79	83					22																	37211274		2203	4300	6503	SO:0001583	missense	5816						calcium ion binding	g.chr22:37211274C>T		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"EF-hand domain containing"	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.67G>A	22.37:g.37211274C>T	ENSP00000216200:p.Asp23Asn					PVALB_ENST00000404171.1_5'UTR|PVALB_ENST00000417718.2_Missense_Mutation_p.D23N	p.D23N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN			3	122	-			23					B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	ENST00000216200.5	37	c.67G>A	CCDS13933.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565160	0.65651	.	.	ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000443735	T;T;T	0.76968	-1.06;-1.06;-0.79	5.21	5.21	0.72293	.	0.288720	0.37348	N	0.002121	D	0.82342	0.5016	M	0.83603	2.65	0.80722	D	1	P	0.39964	0.697	B	0.41202	0.35	D	0.85331	0.1090	10	0.62326	D	0.03	-17.2005	18.7559	0.91832	0.0:1.0:0.0:0.0	.	23	P20472	PRVA_HUMAN	N	23	ENSP00000400247:D23N;ENSP00000216200:D23N;ENSP00000406977:D23N	ENSP00000216200:D23N	D	-	1	0	PVALB	35541220	1.000000	0.71417	0.795000	0.32087	0.133000	0.20885	7.481000	0.81124	2.438000	0.82558	0.561000	0.74099	GAC		0.507	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		11	16	0	0	0	1	0	11	16					T	37211274	C	T	37211274	3	4	176	1	0	0	0	0	1	0	0	0	12836	884	31	2	277	2	PVALB	22	37211274	Missense_Mutation	SNP	C	TCGA-WB-A820-01A-11D-A35I-08		37211274	14093292	21	3137										
H1F0	3005	broad.mit.edu	37	chr22	38201891	38201891	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.136363636363636	3	1	1.5952380952381	7.44444444444444	1.14529914529915	1	1	0	tcaagaagaccaagaaggaaAtcaagaaggtagccacgcca	10	9	2	4			TCGA-WB-A820-01A-11D-A35I-08	TCGA-WB-A820-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f618a4dd-f602-4499-ac44-f8bcd60ea8ce	858c3e31-1211-4c37-bb03-991a561f0860	g.chr22:38201891A>G	ENST00000340857.2	+	1	778	c.340A>G	c.(340-342)Atc>Gtc	p.I114V	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	114					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAAGAAGGAAATCAAGAAGGT	0.572																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	ENST00000340857.2																			0				cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7						c.(340-342)Atc>Gtc		H1 histone family, member 0							61	66	64					22																	38201891		2203	4300	6503	SO:0001583	missense	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38201891A>G	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"Histones / Replication-independent"	4714	protein-coding gene	gene with protein product	"H1.0, H1(0), H1-0"	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.340A>G	22.37:g.38201891A>G	ENSP00000344504:p.Ile114Val						p.I114V	NM_005318.3	NP_005309.1	P07305	H10_HUMAN			1	778	+	Melanoma(58;0.045)		114					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	ENST00000340857.2	37	c.340A>G	CCDS13956.1	.	.	.	.	.	.	.	.	.	.	a	5.014	0.188273	0.09547	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.04194	3.68	5.27	3.1	0.35709	.	0.911165	0.09306	N	0.820192	T	0.01695	0.0054	N	0.01352	-0.895	0.27283	N	0.958057	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	10	0.02654	T	1	.	8.9619	0.35851	0.2274:0.0:0.7726:0.0	.	114	P07305	H10_HUMAN	V	114;97	ENSP00000344504:I114V	ENSP00000344504:I114V	I	+	1	0	H1F0	36531837	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	2.432000	0.44784	0.721000	0.32231	-0.177000	0.13119	ATC		0.572	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		10	26	0	0	0	1	0	10	26					G	38201891	A	G	38201891	3	3	176	1	0	0	0	0	1	0	0	0	6920	101	4	4	342	4	H1F0	22	38201891	Missense_Mutation	SNP	A	TCGA-WB-A820-01A-11D-A35I-08	990617	38201891	13102675	22	3138										
PER3	8863	broad.mit.edu	37	chr1	7886649	7886649	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	acagcggctgttctgtcagcGcacacccagaaggaagagca	12	12	2	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:7886649G>A	ENST00000361923.2	+	16	2218	c.2043G>A	c.(2041-2043)gcG>gcA	p.A681A	PER3_ENST00000377532.3_Silent_p.A689A|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	681	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGTCAGCGCACACCCAGA	0.507																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2065-2067)gcG>gcA		period circadian clock 3							62	56	58					1																	7886649		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7886649G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2043G>A	1.37:g.7886649G>A						PER3_ENST00000361923.2_Silent_p.A681A|RP3-467L1.4_ENST00000451646.1_RNA	p.A689A			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	16	2291	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	681			CSNK1E binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.2067G>A	CCDS89.1																																																																																				0.507	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		3	39	0	0	0	1	0	3	39					A	7886649	G	A	7886649	2	1	177	1	0	0	0	0	0	0	0	1	11731	1074	38	1		1	PER3	1	7886649	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		7886649	241363972	1	3139										
PRAMEF13	400736	broad.mit.edu	37	chr1	13448307	13448307	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gtccttcagggcacccatagAcatacaatttctgccaaagt	7	12	2	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:13448307A>G	ENST00000376132.3	-	4	1270	c.1168T>C	c.(1168-1170)Tct>Cct	p.S390P		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	390					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCATAGACATACAATTT	0.557																																						ENST00000376132.3																			0				breast(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(1168-1170)Tct>Cct		PRAME family member 13							64	62	63					1																	13448307		2203	4296	6499	SO:0001583	missense	400736							g.chr1:13448307A>G			1p36.21	2013-01-17			ENSG00000204495			"-"	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1168T>C	1.37:g.13448307A>G	ENSP00000365302:p.Ser390Pro						p.S390P	NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1270	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	390						Missense_Mutation	SNP	ENST00000376132.3	37	c.1168T>C	CCDS41257.1	.	.	.	.	.	.	.	.	.	.	A	9.984	1.228910	0.22542	.	.	ENSG00000204495	ENST00000376132	T	0.12255	2.7	1.2	-0.0985	0.13628	.	0.067349	0.64402	N	0.000012	T	0.34279	0.0892	M	0.90019	3.08	0.09310	N	1	D;D	0.69078	0.965;0.997	P;D	0.75484	0.819;0.986	T	0.13442	-1.0509	10	0.87932	D	0	.	3.2594	0.06844	0.6288:0.0:0.0:0.3712	.	390;390	Q5VWM6;A6NFR9	PRA13_HUMAN;.	P	390	ENSP00000365302:S390P	ENSP00000365302:S390P	S	-	1	0	PRAMEF13	13320894	0.137000	0.22531	0.001000	0.08648	0.001000	0.01503	1.247000	0.32815	-0.056000	0.13221	-1.060000	0.02296	TCT		0.557	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022040.1	XM_375688		13	103	0	0	0	1	0	13	103					G	13448307	A	G	13448307	3	3	177	1	0	0	0	0	1	0	0	0	12429	275	10	4	260	4	PRAMEF13	1	13448307	Missense_Mutation	SNP	A	TCGA-WB-A821-01A-11D-A35I-08	5561658	13448307	235802314	2	3140										
S1PR1	1901	broad.mit.edu	37	chr1	101705533	101705533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	atcatgtcctgctgcaagtgCccgagcggagactctgctgg	13	12	2	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:101705533C>T	ENST00000305352.6	+	2	1368	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	331					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.C331C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTGCAAGTGCCCGAGCGGAG	0.562																																						ENST00000305352.6																			1	Substitution - coding silent(1)	p.C331C(1)	urinary_tract(1)	NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(991-993)tgC>tgT		sphingosine-1-phosphate receptor 1							130	135	133					1																	101705533		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705533C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.993C>T	1.37:g.101705533C>T							p.C331C	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	1368	+			331					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.993C>T	CCDS777.1																																																																																				0.562	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		5	162	0	0	0	1	0	5	162					T	101705533	C	T	101705533	2	4	177	1	0	0	0	0	0	0	0	1	13793	747	26	3		3	S1PR1	1	101705533	Silent	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	88257226	101705533	147545088	3	3141										
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	agagactactagccagtcagGgtcacagctgtattggtcga	12	9	2	1	rs149372418	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0	0	5008	,	,		15935	0.001		0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299	234	256		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		3	27	0	0	0	1	0	3	27					A	168510202	G	A	168510202	2	1	177	1	0	0	0	0	0	0	0	1	17421	1219	43	3		3	XCL2	1	168510202	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08	66804669	168510202	80740419	4	3142										
FMN2	56776	broad.mit.edu	37	chr1	240256975	240256975	+	Frame_Shift_Del	DEL	G	G	-													0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	tccccagcactggccgccaaGgcgtctggggcccccgcggc							TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr1:240256975delG	ENST00000319653.9	+	1	1796	c.1566delG	c.(1564-1566)aagfs	p.K522fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	522					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGCCGCCAAGGCGTCTGGGG	0.731																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1564-1566)aafs		formin 2							3	4	4					1																	240256975		1697	3578	5275	SO:0001589	frameshift_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256975delG	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1566delG	1.37:g.240256975delG	ENSP00000318884:p.Lys522fs						p.K522fs	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1796	+	Ovarian(103;0.127)	all_cancers(173;0.013)	522					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	c.1566delG	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		2	4						2	4	---	---	---	---	-	240256975	G	-	240256975	7	5	177	1	0	1	0	1	0	0	0	0	5950	991	35	0	1568	0	FMN2	1	240256975	Frame_Shift_Del	DEL	G	TCGA-WB-A821-01A-11D-A35I-08	71746773	240256975	8993646	5	3143										
EPAS1	2034	broad.mit.edu	37	chr2	46607400	46607400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gctggacttggagacactggCaccctatatccccatggacg	11	13	0	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:46607400C>T	ENST00000263734.3	+	12	2099	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	530	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACACTGGCACCCTATATC	0.592																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1588-1590)gCa>gTa		endothelial PAS domain protein 1							86	94	91					2																	46607400		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607400C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1589C>T	2.37:g.46607400C>T	ENSP00000263734:p.Ala530Val						p.A530V	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2099	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	530			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1589C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420544	0.96111	.	.	ENSG00000116016	ENST00000263734	D	0.98150	-4.75	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.87932	D	0	.	18.4411	0.90666	0.0:1.0:0.0:0.0	.	530	Q99814	EPAS1_HUMAN	V	530	ENSP00000263734:A530V	ENSP00000263734:A530V	A	+	2	0	EPAS1	46460904	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.814000	0.86154	2.361000	0.80049	0.491000	0.48974	GCA		0.592	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		45	42	0	0	0	1	0	45	42					T	46607400	C	T	46607400	3	4	177	1	0	0	0	0	1	0	0	0	5150	710	25	3	1635	3	EPAS1	2	46607400	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		46607400	196591973	6	3144										
KLRAQ1	129285	broad.mit.edu	37	chr2	48701954	48701954	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	tacatagctcttcttgccttGccaagtaagtatgtttgttg	8	8	2	0			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:48701954G>C	ENST00000294952.8	+	12	1378	c.1221G>C	c.(1219-1221)ttG>ttC	p.L407F	PPP1R21_ENST00000281394.4_Missense_Mutation_p.L407F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L407F	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	407						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTCTTGCCTTGCCAAGTAAGT	0.443																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1219-1221)ttG>ttC		protein phosphatase 1, regulatory subunit 21							140	122	128					2																	48701954		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48701954G>C	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1221G>C	2.37:g.48701954G>C	ENSP00000294952:p.Leu407Phe					PPP1R21_ENST00000281394.4_Missense_Mutation_p.L407F|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L407F	p.L407F	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			12	1378	+			407					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1221G>C	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596084	0.66332	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.80764	0.994;0.994;0.989;0.961	T	0.70464	-0.4864	9	0.56958	D	0.05	-7.2209	9.4318	0.38615	0.1645:0.0:0.8355:0.0	.	407;407;407;407	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	F	407	.	ENSP00000281394:L407F	L	+	3	2	KLRAQ1	48555458	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.599000	0.67592	2.510000	0.84645	0.650000	0.86243	TTG		0.443	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		3	59	0	0	0	1	0	3	59					C	48701954	G	C	48701954	3	2	177	1	0	0	0	0	1	0	0	0	8413	1310	46	5	1267	5	KLRAQ1	2	48701954	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08	2094554	48701954	194497419	7	3145										
PID1	55022	broad.mit.edu	37	chr2	229890554	229890554	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	atcattgatctccctgtagaCccaggcgaagatgttggggc	12	10	2	3			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr2:229890554C>A	ENST00000354069.6	-	3	577	c.547G>T	c.(547-549)Gtc>Ttc	p.V183F	PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Missense_Mutation_p.V181F|PID1_ENST00000392055.3_Missense_Mutation_p.V150F|PID1_ENST00000409462.1_Missense_Mutation_p.V101F			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	183	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCCTGTAGACCCAGGCGAAG	0.602																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(541-543)Gtc>Ttc		phosphotyrosine interaction domain containing 1							153	135	141					2																	229890554		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890554C>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.547G>T	2.37:g.229890554C>A	ENSP00000283937:p.Val183Phe					PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.V101F|PID1_ENST00000392055.3_Missense_Mutation_p.V150F|PID1_ENST00000354069.6_Missense_Mutation_p.V183F	p.V181F	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	880	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	183			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.541G>T		.	.	.	.	.	.	.	.	.	.	C	16.55	3.154026	0.57259	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	6.07	5.2	0.72013	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.107189	0.64402	D	0.000005	T	0.56187	0.1968	L	0.43152	1.355	0.53688	D	0.99997	P;P;P;P	0.49783	0.926;0.815;0.928;0.884	B;B;P;P	0.47528	0.39;0.39;0.494;0.549	T	0.54977	-0.8212	8	.	.	.	-30.4254	14.2764	0.66181	0.0:0.9295:0.0:0.0705	.	101;150;181;183	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	F	181;101;150;183;183	.	.	V	-	1	0	PID1	229598798	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.267000	0.58877	1.583000	0.49898	0.655000	0.94253	GTC		0.602	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		4	68	1	0	0.00909568	1	0.00973026	4	68					A	229890554	C	A	229890554	3	1	177	1	0	0	0	0	1	0	0	0	11882	507	18	5	209	5	PID1	2	229890554	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	181188600	229890554	13308819	8	3146										
FBXW12	285231	broad.mit.edu	37	chr3	48419816	48419816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	tcgttttctagggtaccatgAtctggtcaagcccagtccag	10	11	3	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:48419816A>G	ENST00000296438.5	+	6	601	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	139										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTACCATGATCTGGTCAAG	0.458																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(415-417)Atc>Gtc		F-box and WD repeat domain containing 12							103	86	92					3																	48419816		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48419816A>G	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.415A>G	3.37:g.48419816A>G	ENSP00000296438:p.Ile139Val					FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.I120V|FBXW12_ENST00000415155.1_Intron	p.I139V	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	6	601	+			139					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.415A>G	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794205	0.31777	.	.	ENSG00000164049	ENST00000296438;ENST00000445170	T;T	0.28454	1.61;1.61	4.61	-1.14	0.09741	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.684620	0.14171	N	0.336704	T	0.19248	0.0462	L	0.46157	1.445	0.09310	N	1	B;B	0.26002	0.123;0.139	B;B	0.25759	0.063;0.043	T	0.20174	-1.0283	10	0.25106	T	0.35	-23.44	2.0721	0.03616	0.4486:0.3113:0.0896:0.1505	.	120;139	E9PG36;Q6X9E4	.;FBW12_HUMAN	V	139;120	ENSP00000296438:I139V;ENSP00000406139:I120V	ENSP00000296438:I139V	I	+	1	0	FBXW12	48394820	0.826000	0.29277	0.011000	0.14972	0.013000	0.08279	1.200000	0.32247	-0.246000	0.09611	-0.327000	0.08410	ATC		0.458	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		4	37	0	0	0	1	0	4	37					G	48419816	A	G	48419816	3	3	177	1	0	0	0	0	1	0	0	0	5765	333	12	4	470	4	FBXW12	3	48419816	Missense_Mutation	SNP	A	TCGA-WB-A821-01A-11D-A35I-08		48419816	149602614	9	3147										
ERC2	26059	broad.mit.edu	37	chr3	56468448	56468448	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	cgcgctgcctcttctttcctCaagactctctccttcttaag	5	16	5	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:56468448C>G	ENST00000288221.6	-	2	843	c.588G>C	c.(586-588)ttG>ttC	p.L196F		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	196						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTCTTTCCTCAAGACTCTCT	0.458																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(586-588)ttG>ttC		ELKS/RAB6-interacting/CAST family member 2							135	130	132					3																	56468448		1918	4124	6042	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468448C>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.588G>C	3.37:g.56468448C>G	ENSP00000288221:p.Leu196Phe						p.L196F	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	843	-			196					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.588G>C	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035022	0.54896	.	.	ENSG00000187672	ENST00000288221	T	0.51325	0.71	5.77	3.97	0.46021	.	0.059273	0.64402	D	0.000002	T	0.47525	0.1450	M	0.75264	2.295	0.40776	D	0.983135	P	0.34587	0.458	B	0.31614	0.133	T	0.57745	-0.7758	10	0.87932	D	0	-5.6079	12.8477	0.57839	0.0:0.8661:0.0:0.1339	.	196	O15083	ERC2_HUMAN	F	196	ENSP00000288221:L196F	ENSP00000288221:L196F	L	-	3	2	ERC2	56443488	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.357000	0.52277	1.461000	0.47929	0.643000	0.83706	TTG		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		21	59	0	0	0	1	0	21	59					G	56468448	C	G	56468448	3	3	177	1	0	0	0	0	1	0	0	0	5211	825	29	5	2339	5	ERC2	3	56468448	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	8048632	56468448	141553982	10	3148										
CNTN3	5067	broad.mit.edu	37	chr3	74383970	74383970	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	caggtaaagatgatgtctaaCagcgggtcatgttgtacctg	12	7	2	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:74383970C>A	ENST00000263665.6	-	12	1611	c.1584G>T	c.(1582-1584)ctG>ctT	p.L528L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	528	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGATGTCTAACAGCGGGTCAT	0.438																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1582-1584)ctG>ctT		contactin 3 (plasmacytoma associated)							122	115	117					3																	74383970		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74383970C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1584G>T	3.37:g.74383970C>A							p.L528L	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	12	1611	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	528			Ig-like C2-type 6.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1584G>T	CCDS33790.1																																																																																				0.438	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		5	65	1	0	5.9392e-07	1	6.83008e-07	5	65					A	74383970	C	A	74383970	2	1	177	1	0	0	0	0	0	0	0	1	3642	465	17	5		5	CNTN3	3	74383970	Silent	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	17915522	74383970	123638460	11	3149										
C3orf15	89876	broad.mit.edu	37	chr3	119451227	119451227	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	aggattattctgattatgcaTcacaggtctatggacctctg	9	8	4	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr3:119451227T>G	ENST00000273390.5	+	9	1182	c.1105T>G	c.(1105-1107)Tca>Gca	p.S369A		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	532						mitochondrion (GO:0005739)											TGATTATGCATCACAGGTCTA	0.368																																						ENST00000273390.5																			0											c.(1105-1107)Tca>Gca		MYCBP-associated, testis expressed 1							69	73	71					3																	119451227		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119451227T>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1105T>G	3.37:g.119451227T>G	ENSP00000273390:p.Ser369Ala						p.S369A	NM_033364.3	NP_203528.2					9	1182	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1105T>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078487	0.76528	.	.	ENSG00000183833	ENST00000273390	T	0.39997	1.05	5.66	5.66	0.87406	.	0.079870	0.56097	D	0.000038	T	0.69735	0.3144	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.85130	0.997;0.957;0.979;0.944	T	0.75863	-0.3167	10	0.72032	D	0.01	5.7114	15.9078	0.79445	0.0:0.0:0.0:1.0	.	130;307;369;369	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	A	369	ENSP00000273390:S369A	ENSP00000273390:S369A	S	+	1	0	C3orf15	120933917	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.971000	0.56831	2.144000	0.66660	0.460000	0.39030	TCA		0.368	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		18	61	0	0	0	1	0	18	61					G	119451227	T	G	119451227	3	3	177	1	0	0	0	0	1	0	0	0	2209	1435	50	5	1139	5	C3orf15	3	119451227	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	45067257	119451227	78571203	12	3150										
GALNTL6	442117	broad.mit.edu	37	chr4	173942682	173942682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	cggtgagccactgcatacccGgaaattctgctttgatgcga	11	11	1	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr4:173942682G>A	ENST00000506823.1	+	12	2201	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	515	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTGCATACCCGGAAATTCTGC	0.483																																						ENST00000506823.1																			1	Unknown(1)	p.?(1)	breast(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1543-1545)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							158	147	151					4																	173942682		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173942682G>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1544G>A	4.37:g.173942682G>A	ENSP00000423313:p.Arg515Gln					GALNTL6_ENST00000508122.1_Missense_Mutation_p.R498Q	p.R515Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			12	2201	+			515			Ricin B-type lectin.		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1544G>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023883	0.54683	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.76839	-1.05;-1.05	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.198625	0.35096	N	0.003452	D	0.82609	0.5074	M	0.78637	2.42	0.50467	D	0.999875	P	0.52170	0.951	P	0.47075	0.536	T	0.81024	-0.1120	10	0.30078	T	0.28	.	20.0817	0.97778	0.0:0.0:1.0:0.0	.	515	Q49A17	GLTL6_HUMAN	Q	515;498	ENSP00000423313:R515Q;ENSP00000423827:R498Q	ENSP00000423313:R515Q	R	+	2	0	GALNTL6	174179257	0.998000	0.40836	0.801000	0.32222	0.038000	0.13279	3.555000	0.53727	2.743000	0.94032	0.650000	0.86243	CGG		0.483	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		15	63	0	0	0	1	0	15	63					A	173942682	G	A	173942682	3	1	177	1	0	0	0	0	1	0	0	0	6225	1116	39	2	1586	2	GALNTL6	4	173942682	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		173942682	17211594	13	3151										
DNAH5	1767	broad.mit.edu	37	chr5	13721122	13721122	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gccttacgttcgccatggtcTgctgcaagagcttccgagca	11	13	1	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr5:13721122T>C	ENST00000265104.4	-	71	12370	c.12266A>G	c.(12265-12267)cAg>cGg	p.Q4089R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4089	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCCATGGTCTGCTGCAAGAG	0.428									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12265-12267)cAg>cGg		dynein, axonemal, heavy chain 5							75	78	77					5																	13721122		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13721122T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12266A>G	5.37:g.13721122T>C	ENSP00000265104:p.Gln4089Arg						p.Q4089R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			71	12370	-	Lung NSC(4;0.00476)		4089			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12266A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	8.118	0.780367	0.16120	.	.	ENSG00000039139	ENST00000265104	T	0.08546	3.08	5.18	5.18	0.71444	Dynein heavy chain (1);	0.057945	0.64402	D	0.000001	T	0.10594	0.0259	L	0.46947	1.48	0.46298	D	0.998978	B	0.15473	0.013	B	0.28784	0.094	T	0.14727	-1.0462	10	0.17832	T	0.49	.	15.3168	0.74085	0.0:0.0:0.0:1.0	.	4089	Q8TE73	DYH5_HUMAN	R	4089	ENSP00000265104:Q4089R	ENSP00000265104:Q4089R	Q	-	2	0	DNAH5	13774122	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.777000	0.62361	2.075000	0.62263	0.455000	0.32223	CAG		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	69	0	0	0	1	0	5	69					C	13721122	T	C	13721122	3	2	177	1	0	0	0	0	1	0	0	0	4604	1580	55	4	1644	4	DNAH5	5	13721122	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		13721122	167194138	14	3152										
DFNA5	1687	broad.mit.edu	37	chr7	24784270	24784270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	tggctctctacgcggctgctGccccccaggttcagcttgac	11	16	2	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:24784270G>A	ENST00000342947.3	-	3	740	c.315C>T	c.(313-315)ggC>ggT	p.G105G	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	105					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CGCGGCTGCTGCCCCCCAGGT	0.557																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(313-315)ggC>ggT		deafness, autosomal dominant 5							87	79	82					7																	24784270		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24784270G>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.315C>T	7.37:g.24784270G>A						DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.G105G|DFNA5_ENST00000545231.1_5'UTR	p.G105G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			3	740	-			105					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.315C>T	CCDS5389.1																																																																																				0.557	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		5	71	0	0	0	1	0	5	71					A	24784270	G	A	24784270	2	1	177	1	0	0	0	0	0	0	0	1	4454	1306	46	3		3	DFNA5	7	24784270	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		24784270	134354393	15	3153										
PCLO	27445	broad.mit.edu	37	chr7	82389988	82389988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	cctgcaggacttagactgaaTcgaaaagtttcattaaacga	8	8	1	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:82389988T>C	ENST00000333891.9	-	24	15592	c.15255A>G	c.(15253-15255)cgA>cgG	p.R5085R		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAGACTGAATCGAAAAGTTT	0.318																																						ENST00000333891.8																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(15253-15255)cgA>cgG		piccolo presynaptic cytomatrix protein							133	131	132					7																	82389988		1828	4070	5898	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82389988T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15255A>G	7.37:g.82389988T>C							p.R5085R	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			24	15592	-			5008						Silent	SNP	ENST00000333891.9	37	c.15255A>G	CCDS47630.1																																																																																				0.318	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		30	32	0	0	0	1	0	30	32					C	82389988	T	C	82389988	2	2	177	1	0	0	0	0	0	0	0	1	11583	1422	50	4		4	PCLO	7	82389988	Silent	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	57605718	82389988	76748675	16	3154										
LHFPL3	375612	broad.mit.edu	37	chr7	103969248	103969248	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	atgcccggagccgccgccgcTgccgccgccgccgccgccgc	14	23	0	0			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr7:103969248T>C	ENST00000535008.1	+	1	145	c.21T>C	c.(19-21)gcT>gcC	p.A7A	LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	7						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						ccgccgccgctgccgccgccg	0.721																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(19-21)gcT>gcC		lipoma HMGIC fusion partner-like 3							10	14	13					7																	103969248		1941	4076	6017	SO:0001819	synonymous_variant	375612					integral to membrane		g.chr7:103969248T>C	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.21T>C	7.37:g.103969248T>C						LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR|LHFPL3_ENST00000543266.1_Silent_p.A7A	p.A7A			Q86UP9	LHPL3_HUMAN			1	145	+			0					A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	37	c.21T>C																																																																																					0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding		NM_199000		3	19	0	0	0	1	0	3	19					C	103969248	T	C	103969248	2	2	177	1	0	0	0	0	0	0	0	1	8766	1567	55	4		4	LHFPL3	7	103969248	Silent	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	21579260	103969248	55169415	17	3155										
SLC10A5	347051	broad.mit.edu	37	chr8	82606174	82606174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	acccaaacagcaaacccaaaGcaggaactaagagacccaac	6	14	0	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr8:82606174G>A	ENST00000518568.1	-	1	2235	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	345						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACCCAAAGCAGGAACTAA	0.368																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(1033-1035)gCt>gTt		solute carrier family 10, member 5							66	66	66					8																	82606174		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606174G>A		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.1034C>T	8.37:g.82606174G>A	ENSP00000428612:p.Ala345Val						p.A345V	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	2235	-			345					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.1034C>T	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	8.456	0.854185	0.17106	.	.	ENSG00000253598	ENST00000518568	T	0.07908	3.15	5.51	-0.00473	0.14020	.	1.312740	0.05213	N	0.507090	T	0.04952	0.0133	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44065	-0.9352	10	0.14656	T	0.56	-0.0284	9.5015	0.39019	0.5412:0.0:0.4588:0.0	.	345	Q5PT55	NTCP5_HUMAN	V	345	ENSP00000428612:A345V	ENSP00000428612:A345V	A	-	2	0	SLC10A5	82768729	0.000000	0.05858	0.401000	0.26359	0.998000	0.95712	0.381000	0.20619	0.004000	0.14682	0.591000	0.81541	GCT		0.368	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		3	43	0	0	0	1	0	3	43					A	82606174	G	A	82606174	3	1	177	1	0	0	0	0	1	0	0	0	14377	971	34	3	284	3	SLC10A5	8	82606174	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		82606174	63757848	18	3156										
AZIN1	51582	broad.mit.edu	37	chr8	103855864	103855864	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	caacggagtagtttgcatcaTcaataaatcctttcatctca	5	10	4	0			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr8:103855864T>G	ENST00000337198.5	-	3	1180	c.17A>C	c.(16-18)gAt>gCt	p.D6A	AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	6					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			GTTTGCATCATCAATAAATCC	0.423																																						ENST00000337198.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9						c.(16-18)gAt>gCt		antizyme inhibitor 1							152	137	142					8																	103855864		2203	4300	6503	SO:0001583	missense	51582				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	g.chr8:103855864T>G	AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"ornithine decarboxylase 1-like"	607909	"ornithine decarboxylase antizyme inhibitor"	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.17A>C	8.37:g.103855864T>G	ENSP00000337180:p.Asp6Ala					AZIN1_ENST00000347770.4_Missense_Mutation_p.D6A|AZIN1_ENST00000522311.1_5'UTR	p.D6A	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)		3	1180	-	Lung NSC(17;0.000143)|all_lung(17;0.000294)		6					A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	ENST00000337198.5	37	c.17A>C	CCDS6295.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.983056	0.74474	.	.	ENSG00000155096	ENST00000337198;ENST00000347770;ENST00000520402;ENST00000518353	T;T	0.43688	0.94;0.94	6.07	6.07	0.98685	.	0.143965	0.64402	D	0.000008	T	0.40956	0.1138	L	0.48642	1.525	0.54753	D	0.999989	B	0.18968	0.032	B	0.26094	0.066	T	0.16012	-1.0417	10	0.27082	T	0.32	-13.0333	16.6407	0.85098	0.0:0.0:0.0:1.0	.	6	O14977	AZIN1_HUMAN	A	6	ENSP00000337180:D6A;ENSP00000321507:D6A	ENSP00000337180:D6A	D	-	2	0	AZIN1	103925040	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	GAT		0.423	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380133.1			11	50	0	0	0	1	0	11	50					G	103855864	T	G	103855864	3	3	177	1	0	0	0	0	1	0	0	0	1242	1435	50	5	1369	5	AZIN1	8	103855864	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	21249690	103855864	42508158	19	3157										
GNE	10020	broad.mit.edu	37	chr9	36249220	36249220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	tatcaggtgagagccaagtaCcacaacatcaagttcaaaga	8	9	3	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr9:36249220C>T	ENST00000539815.1	-	1	173	c.133G>A	c.(133-135)Gta>Ata	p.V45I	GNE_ENST00000377902.5_Missense_Mutation_p.V45I|GNE_ENST00000539208.1_Intron|GNE_ENST00000396594.3_Missense_Mutation_p.V76I|GNE_ENST00000543356.2_Intron|GNE_ENST00000447283.2_Missense_Mutation_p.V45I			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	45					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GAGCCAAGTACCACAACATCA	0.413																																					GBM(184;106 2118 20004 35750 50727)	ENST00000396594.3																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)Gta>Ata		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase							163	136	145					9																	36249220		2203	4300	6503	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36249220C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.133G>A	9.37:g.36249220C>T	ENSP00000439155:p.Val45Ile					GNE_ENST00000539208.1_Intron|GNE_ENST00000543356.2_Intron|GNE_ENST00000539815.1_Missense_Mutation_p.V45I|GNE_ENST00000447283.2_Missense_Mutation_p.V45I|GNE_ENST00000377902.5_Missense_Mutation_p.V45I	p.V76I	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		2	337	-			45					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.226G>A	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486396	0.84854	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000539815;ENST00000447283	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.79475	2.455	0.53005	D	0.999967	P;D;B	0.61080	0.865;0.989;0.076	P;D;B	0.64321	0.618;0.924;0.085	D	0.98333	1.0534	10	0.62326	D	0.03	-15.2167	11.4116	0.49929	0.0:0.9123:0.0:0.0876	.	76;45;45	Q9Y223-2;Q9Y223;A7UNU7	.;GLCNE_HUMAN;.	I	45;76;45;45	ENSP00000367134:V45I;ENSP00000379839:V76I;ENSP00000439155:V45I;ENSP00000414760:V45I	ENSP00000367134:V45I	V	-	1	0	GNE	36239220	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.466000	0.66731	2.684000	0.91462	0.561000	0.74099	GTA		0.413	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		7	77	0	0	0	1	0	7	77					T	36249220	C	T	36249220	3	4	177	1	0	0	0	0	1	0	0	0	6522	507	18	3	2079	3	GNE	9	36249220	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		36249220	104964211	20	3158										
OIT3	170392	broad.mit.edu	37	chr10	74673076	74673076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	ttctctgcagtccctgtgttGtgcaaatcaaatgccattga	8	10	2	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr10:74673076G>A	ENST00000334011.5	+	6	1019	c.801G>A	c.(799-801)ttG>ttA	p.L267L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	267	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCCCTGTGTTGTGCAAATCAA	0.522																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(799-801)ttG>ttA		oncoprotein induced transcript 3							207	205	206					10																	74673076		2203	4300	6503	SO:0001819	synonymous_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74673076G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.801G>A	10.37:g.74673076G>A							p.L267L	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1019	+	Prostate(51;0.0198)		267			ZP.		A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	c.801G>A	CCDS7318.1																																																																																				0.522	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		9	173	0	0	0	1	0	9	173					A	74673076	G	A	74673076	2	1	177	1	0	0	0	0	0	0	0	1	10849	1368	48	3		3	OIT3	10	74673076	Silent	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		74673076	60861671	21	3159										
PARN	5073	broad.mit.edu	37	chr16	14676088	14676088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gccctgtgatgtaggcatcgTagcctgcctcgtggagttgt	14	10	0	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr16:14676088T>C	ENST00000437198.2	-	17	1283	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	PARN_ENST00000341484.7_Missense_Mutation_p.Y320C|PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	381					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GTAGGCATCGTAGCCTGCCTC	0.448																																						ENST00000437198.2																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1141-1143)tAc>tGc		poly(A)-specific ribonuclease							224	218	220					16																	14676088		2001	4171	6172	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14676088T>C	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1142A>G	16.37:g.14676088T>C	ENSP00000387911:p.Tyr381Cys					PARN_ENST00000420015.2_Missense_Mutation_p.Y335C|PARN_ENST00000539279.1_Missense_Mutation_p.Y206C|PARN_ENST00000341484.7_Missense_Mutation_p.Y320C	p.Y381C	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			17	1283	-			381					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.1142A>G	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369447	0.82463	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.81	5.81	0.92471	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64976	-0.6280	10	0.87932	D	0	-16.6233	15.002	0.71479	0.0:0.0:0.0:1.0	.	206;335;381	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	C	381;320;335;206	ENSP00000387911:Y381C;ENSP00000345456:Y320C;ENSP00000410525:Y335C;ENSP00000444381:Y206C	ENSP00000345456:Y320C	Y	-	2	0	PARN	14583589	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.722000	0.84778	2.210000	0.71456	0.533000	0.62120	TAC		0.448	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		12	166	0	0	0	1	0	12	166					C	14676088	T	C	14676088	3	2	177	1	0	0	0	0	1	0	0	0	11453	1638	57	4	809	4	PARN	16	14676088	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		14676088	75678665	22	3160										
ALOX12	239	broad.mit.edu	37	chr17	6902684	6902684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gctaccagttcctcaatggtGccaaccccatgctgttgaga	9	13	1	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:6902684G>A	ENST00000251535.6	+	6	759	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	236	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCTCAATGGTGCCAACCCCAT	0.547																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(706-708)Gcc>Acc		arachidonate 12-lipoxygenase							181	141	155					17																	6902684		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6902684G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.706G>A	17.37:g.6902684G>A	ENSP00000251535:p.Ala236Thr					AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA	p.A236T	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			6	759	+			236			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.706G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233124	0.39498	.	.	ENSG00000108839	ENST00000251535	T	0.77358	-1.09	5.13	-1.78	0.07957	Lipoxygenase, C-terminal (3);	0.556579	0.20191	N	0.097307	T	0.68824	0.3043	M	0.73962	2.25	0.19300	N	0.999972	B	0.20052	0.041	B	0.22152	0.038	T	0.55101	-0.8193	10	0.29301	T	0.29	-2.565	3.7542	0.08579	0.3874:0.0:0.3479:0.2647	.	236	P18054	LOX12_HUMAN	T	236	ENSP00000251535:A236T	ENSP00000251535:A236T	A	+	1	0	ALOX12	6843408	0.000000	0.05858	0.059000	0.19551	0.904000	0.53231	0.020000	0.13466	-0.304000	0.08843	-0.152000	0.13540	GCC		0.547	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			4	56	0	0	0	1	0	4	56					A	6902684	G	A	6902684	3	1	177	1	0	0	0	0	1	0	0	0	536	1319	46	3	728	3	ALOX12	17	6902684	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08		6902684	74292526	23	3161										
RAI1	10743	broad.mit.edu	37	chr17	17699978	17699978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	ccccaccaagaagcggaaccTggtcttgcggagccgcagca	12	15	1	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:17699978T>G	ENST00000353383.1	+	3	4185	c.3716T>G	c.(3715-3717)cTg>cGg	p.L1239R	RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1239					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGCGGAACCTGGTCTTGCGG	0.642																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3715-3717)cTg>cGg		retinoic acid induced 1							28	32	31					17																	17699978		2203	4299	6502	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699978T>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3716T>G	17.37:g.17699978T>G	ENSP00000323074:p.Leu1239Arg					RAI1_ENST00000261641.6_Missense_Mutation_p.L1239R	p.L1239R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4185	+			1239					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.3716T>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538995	0.45176	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.67698	-0.28;0.33	4.18	3.1	0.35709	.	0.000000	0.40302	N	0.001138	T	0.75236	0.3822	L	0.60455	1.87	0.36895	D	0.890086	D	0.71674	0.998	D	0.85130	0.997	T	0.76035	-0.3106	10	0.45353	T	0.12	.	9.1723	0.37089	0.0:0.088:0.0:0.912	.	1239	Q7Z5J4	RAI1_HUMAN	R	1239;1239;1239;1191	ENSP00000323074:L1239R;ENSP00000261641:L1239R	ENSP00000261641:L1239R	L	+	2	0	RAI1	17640703	0.828000	0.29307	0.577000	0.28562	0.936000	0.57629	1.520000	0.35899	0.500000	0.27991	0.260000	0.18958	CTG		0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		6	26	0	0	0	1	0	6	26					G	17699978	T	G	17699978	3	3	177	1	0	0	0	0	1	0	0	0	13007	1580	55	5	3718	5	RAI1	17	17699978	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	10797294	17699978	63495232	24	3162										
PIGS	94005	broad.mit.edu	37	chr17	26882066	26882066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	aggcagctggggctgagcaaTcccaaagagcaacctgtagg	14	10	0	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:26882066T>C	ENST00000308360.7	-	11	1570	c.1195A>G	c.(1195-1197)Att>Gtt	p.I399V	PIGS_ENST00000395346.2_Missense_Mutation_p.I391V|PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|UNC119_ENST00000335765.4_5'Flank|UNC119_ENST00000301032.4_5'Flank	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	399					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCTGAGCAATCCCAAAGAGC	0.542																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1195-1197)Att>Gtt		phosphatidylinositol glycan anchor biosynthesis, class S							50	46	47					17																	26882066		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26882066T>C		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1195A>G	17.37:g.26882066T>C	ENSP00000309430:p.Ile399Val					PIGS_ENST00000543734.1_Missense_Mutation_p.I338V|PIGS_ENST00000395346.2_Missense_Mutation_p.I391V	p.I399V	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			11	1570	-	Lung NSC(42;0.00431)		399					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.1195A>G	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710999	0.30322	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.43294	0.95;0.95;0.95	5.42	5.42	0.78866	.	0.110954	0.64402	D	0.000005	T	0.30510	0.0767	L	0.32530	0.975	0.42244	D	0.991947	B;B	0.30406	0.278;0.235	B;B	0.31390	0.129;0.079	T	0.15378	-1.0439	10	0.34782	T	0.22	-10.616	7.8497	0.29446	0.0:0.0731:0.1396:0.7874	.	399;391	Q96S52;Q96S52-2	PIGS_HUMAN;.	V	391;399;338	ENSP00000378755:I391V;ENSP00000309430:I399V;ENSP00000438447:I338V	ENSP00000309430:I399V	I	-	1	0	PIGS	23906193	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.294000	0.43567	2.053000	0.61076	0.379000	0.24179	ATT		0.542	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		5	9	0	0	0	1	0	5	9					C	26882066	T	C	26882066	3	2	177	1	0	0	0	0	1	0	0	0	11898	1435	50	4	480	4	PIGS	17	26882066	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	9182088	26882066	54313144	25	3163										
GPATCH8	23131	broad.mit.edu	37	chr17	42501775	42501775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	caaattcctgatgtttctgaTattgcttatcacacagttca	5	9	3	2	rs558350981		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:42501775T>C	ENST00000591680.1	-	6	464	c.434A>G	c.(433-435)tAt>tGt	p.Y145C	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_Missense_Mutation_p.Y67C	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	145							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGTTTCTGATATTGCTTATC	0.393																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(199-201)tAt>tGt		G patch domain containing 8							157	144	149					17																	42501775		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42501775T>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.434A>G	17.37:g.42501775T>C	ENSP00000467556:p.Tyr145Cys					GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000591680.1_Missense_Mutation_p.Y145C	p.Y67C			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	7	482	-		Prostate(33;0.0181)	145			G-patch.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.200A>G	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643521	0.67244	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.46063	0.88	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73678	-0.3907	10	0.87932	D	0	-11.8289	15.5078	0.75753	0.0:0.0:0.0:1.0	.	145	Q9UKJ3	GPTC8_HUMAN	C	145;67	ENSP00000395016:Y67C	ENSP00000335486:Y145C	Y	-	2	0	GPATCH8	39857301	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.040000	0.89188	2.069000	0.61940	0.533000	0.62120	TAT		0.393	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	70	0	0	0	1	0	7	70					C	42501775	T	C	42501775	3	2	177	1	0	0	0	0	1	0	0	0	6594	1406	49	4	4086	4	GPATCH8	17	42501775	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08	15619709	42501775	38693435	26	3164										
ITGA3	3675	broad.mit.edu	37	chr17	48165686	48165686	+	Frame_Shift_Del	DEL	C	C	-													0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gtcagagacagagaggctgaCcgacgactactgagggggca							TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr17:48165686delC	ENST00000320031.8	+	25	3473	c.3143delC	c.(3142-3144)accfs	p.T1048fs	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1048					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGAGGCTGACCGACGACTAC	0.687																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3142-3144)acfs		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							11	14	13					17																	48165686		2168	4253	6421	SO:0001589	frameshift_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48165686delC	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.3143delC	17.37:g.48165686delC	ENSP00000315190:p.Thr1048fs					ITGA3_ENST00000007722.7_Intron	p.T1048fs	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			25	3473	+			1048					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Frame_Shift_Del	DEL	ENST00000320031.8	37	c.3143delC	CCDS11558.1																																																																																				0.687	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		2	4						2	4	---	---	---	---	-	48165686	C	-	48165686	7	5	177	1	0	1	0	1	0	0	0	0	7877	507	18	0	3241	0	ITGA3	17	48165686	Frame_Shift_Del	DEL	C	TCGA-WB-A821-01A-11D-A35I-08	5663911	48165686	33029524	27	3165										
CEP192	55125	broad.mit.edu	37	chr18	13116474	13116474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	acggacacttaaagtcaatcTgcgaaataattcttttatta	5	7	3	0			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr18:13116474T>C	ENST00000325971.8	+	41	7193	c.5600T>C	c.(5599-5601)cTg>cCg	p.L1867P	CEP192_ENST00000506447.1_Missense_Mutation_p.L2463P|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1867					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAGTCAATCTGCGAAATAAT	0.413																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7387-7389)cTg>cCg		centrosomal protein 192kDa							89	83	85					18																	13116474		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13116474T>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5600T>C	18.37:g.13116474T>C	ENSP00000317156:p.Leu1867Pro					CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.L1867P|CEP192_ENST00000430049.2_Missense_Mutation_p.L1988P	p.L2463P	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			43	7468	+			2058					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7388T>C		.	.	.	.	.	.	.	.	.	.	T	18.71	3.682374	0.68157	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.08720	3.06;3.07;3.07	4.98	4.98	0.66077	.	0.172755	0.40908	D	0.000999	T	0.28001	0.0690	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.996;1.0	D;D;D;D	0.76071	0.952;0.977;0.939;0.987	T	0.01670	-1.1299	10	0.87932	D	0	-8.2332	14.6136	0.68531	0.0:0.0:0.0:1.0	.	1988;2463;467;1066	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	P	2463;1867;1867;1988;467	ENSP00000427550:L2463P;ENSP00000317156:L1867P;ENSP00000389190:L1988P	ENSP00000317156:L1867P	L	+	2	0	CEP192	13106474	1.000000	0.71417	0.984000	0.44739	0.623000	0.37688	5.249000	0.65427	2.009000	0.58944	0.383000	0.25322	CTG		0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	44	0	0	0	1	0	8	44					C	13116474	T	C	13116474	3	2	177	1	0	0	0	0	1	0	0	0	3251	1580	55	4	7554	4	CEP192	18	13116474	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		13116474	64960774	28	3166										
CLEC17A	388512	broad.mit.edu	37	chr19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA													0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	tttcccctggaagggaccatINSggaggaggaggaggaggatg					rs138602183|rs34295949|rs548360441	byFrequency	TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr19:14694175_14694176insGGA	ENST00000417570.1	+	2	88_89	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	CLEC17A_ENST00000547437.1_In_Frame_Ins_p.22_23insE|RN7SL337P_ENST00000462468.2_RNA|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GAAGGGACCATGGAGGAGGAGG	0.579														414	0.0826677	0.174	0.0346	5008	,	,		19484	0.004		0.0656	False		,,,				2504	0.092					ENST00000547437.1																			0											c.(49-51)aga>aGGAga		C-type lectin domain family 17, member A																																				SO:0001652	inframe_insertion	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14694175_14694176insGGA	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.66_68dupGGA	19.37:g.14694182_14694184dupGGA	ENSP00000393719:p.Glu22_Glu22dup					CLEC17A_ENST00000397439.2_In_Frame_Ins_p.17_17R>RR|CLEC17A_ENST00000417570.1_In_Frame_Ins_p.17_17R>RR	p.17_17R>RR	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			2	127_128	+			17					A8MX68|B2RTX0|B7ZMM4	In_Frame_Ins	INS	ENST00000417570.1	37	c.50_51insGGA	CCDS56087.1																																																																																				0.579	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		7	8						7	8	---	---	---	---	GGA	14694176	-	GGA	14694175	7	5	177	1	0	1	1	0	0	0	0	0	3501	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-WB-A821-01A-11D-A35I-08		14694175	44434808	29	3167										
CYTH2	9266	broad.mit.edu	37	chr19	48976617	48976617	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gcatgagttcaccgacctcaAtctggtgcaggccctcaggt	11	13	4	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr19:48976617A>G	ENST00000452733.2	+	5	892	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CYTH2_ENST00000427476.1_Missense_Mutation_p.N139S			Q99418	CYH2_HUMAN	cytohesin 2	139	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCGACCTCAATCTGGTGCAG	0.517																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(415-417)aAt>aGt		cytohesin 2							103	85	91					19																	48976617		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48976617A>G	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.416A>G	19.37:g.48976617A>G	ENSP00000408236:p.Asn139Ser					CYTH2_ENST00000452733.2_Missense_Mutation_p.N139S	p.N139S	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			5	716	+			139			SEC7.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.416A>G	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603038	0.66445	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.51071	0.72;0.72;0.72	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	N	0.25647	0.755	0.58432	D	0.999993	B	0.19935	0.04	B	0.16289	0.015	T	0.11542	-1.0583	10	0.30078	T	0.28	.	11.8884	0.52615	1.0:0.0:0.0:0.0	.	139	Q99418-2	.	S	139;139;161	ENSP00000408236:N139S;ENSP00000391648:N139S;ENSP00000314566:N161S	ENSP00000314566:N161S	N	+	2	0	CYTH2	53668429	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	8.882000	0.92420	1.978000	0.57642	0.379000	0.24179	AAT		0.517	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		4	56	0	0	0	1	0	4	56					G	48976617	A	G	48976617	3	3	177	1	0	0	0	0	1	0	0	0	4204	101	4	4	434	4	CYTH2	19	48976617	Missense_Mutation	SNP	A	TCGA-WB-A821-01A-11D-A35I-08	34282442	48976617	10152366	30	3168										
C20orf96	140680	broad.mit.edu	37	chr20	257758	257758	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	aggattccaggacctttctgCgcatctcaccgaggtcatcc	9	14	3	0	rs550866771		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:257758C>T	ENST00000360321.2	-	8	890	c.752G>A	c.(751-753)cGc>cAc	p.R251H	C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H|C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	251										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCTTTCTGCGCATCTCACC	0.557																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(751-753)cGc>cAc		chromosome 20 open reading frame 96							131	146	141					20																	257758		2203	4300	6503	SO:0001583	missense	140680							g.chr20:257758C>T	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.752G>A	20.37:g.257758C>T	ENSP00000353470:p.Arg251His					C20orf96_ENST00000400269.3_Missense_Mutation_p.R193H|C20orf96_ENST00000382369.5_Missense_Mutation_p.R216H	p.R251H	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	890	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	251					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	37	c.752G>A	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799420	0.50208	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.48201	0.82;0.82;0.82	4.95	4.0	0.46444	.	0.623460	0.15923	N	0.238013	T	0.58722	0.2142	L	0.55481	1.735	0.22754	N	0.998773	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.938;0.938;0.966;0.938	T	0.45891	-0.9230	10	0.30854	T	0.27	-13.7279	9.0336	0.36273	0.0:0.8965:0.0:0.1034	.	193;216;251;216	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	H	216;251;193	ENSP00000371806:R216H;ENSP00000353470:R251H;ENSP00000383128:R193H	ENSP00000353470:R251H	R	-	2	0	C20orf96	205758	0.914000	0.31030	0.461000	0.27105	0.633000	0.38033	2.163000	0.42377	1.084000	0.41184	0.313000	0.20887	CGC		0.557	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		4	234	0	0	0	1	0	4	234					T	257758	C	T	257758	3	4	177	1	0	0	0	0	1	0	0	0	2122	768	27	1	355	1	C20orf96	20	257758	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		257758	62767762	31	3169										
TAF4	6874	broad.mit.edu	37	chr20	60581703	60581703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gaccgagctactcagcaccaCggccgtgagcgcagtggtgg	15	13	1	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:60581703C>T	ENST00000252996.4	-	7	2085	c.2086G>A	c.(2086-2088)Gtg>Atg	p.V696M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	696					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCAGCACCACGGCCGTGAGC	0.716																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2086-2088)Gtg>Atg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							20	25	23					20																	60581703		2200	4295	6495	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581703C>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2086G>A	20.37:g.60581703C>T	ENSP00000252996:p.Val696Met					TAF4_ENST00000488539.1_5'UTR	p.V696M	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2085	-	Breast(26;1e-08)		696					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2086G>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734514	0.89482	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27557	1.66;1.67	5.46	5.46	0.80206	.	0.064962	0.64402	D	0.000011	T	0.52370	0.1730	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.47711	-0.9096	10	0.49607	T	0.09	-19.8984	19.2974	0.94128	0.0:1.0:0.0:0.0	.	696	O00268	TAF4_HUMAN	M	696;560	ENSP00000252996:V696M;ENSP00000399091:V560M	ENSP00000252996:V696M	V	-	1	0	TAF4	60015098	1.000000	0.71417	0.993000	0.49108	0.876000	0.50452	5.251000	0.65438	2.550000	0.86006	0.563000	0.77884	GTG		0.716	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		4	25	0	0	0	1	0	4	25					T	60581703	C	T	60581703	3	4	177	1	0	0	0	0	1	0	0	0	15523	536	19	1	1207	1	TAF4	20	60581703	Missense_Mutation	SNP	C	TCGA-WB-A821-01A-11D-A35I-08	60323945	60581703	2443817	32	3170										
LSM14B	149986	broad.mit.edu	37	chr20	60701439	60701439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	ccgagggatggcgccctacgGcccgctggcggccagctccc	15	18	0	0			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr20:60701439G>T	ENST00000279068.6	+	3	531	c.371G>T	c.(370-372)gGc>gTc	p.G124V	LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V|LSM14B_ENST00000253001.4_Missense_Mutation_p.G124V	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	124					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCCCTACGGCCCGCTGGCG	0.627																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(370-372)gGc>gTc		LSM14B, SCD6 homolog B (S. cerevisiae)							43	45	44					20																	60701439		2035	4174	6209	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701439G>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.371G>T	20.37:g.60701439G>T	ENSP00000279068:p.Gly124Val					LSM14B_ENST00000279068.6_Missense_Mutation_p.G124V|LSM14B_ENST00000370915.1_Missense_Mutation_p.G124V	p.G124V			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	577	+	Breast(26;3.97e-09)		124					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.371G>T	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752917	0.49362	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.48522	0.91;0.83;0.81;0.88	5.42	3.09	0.35607	.	0.166091	0.64402	D	0.000003	T	0.29684	0.0741	N	0.08118	0	0.58432	D	0.999999	B;P;B;B;P	0.39216	0.177;0.664;0.026;0.418;0.573	B;B;B;B;B	0.39419	0.049;0.299;0.008;0.157;0.143	T	0.30650	-0.9971	10	0.56958	D	0.05	.	13.2551	0.60074	0.1525:0.0:0.8475:0.0	.	5;5;124;150;124	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	V	124;124;124;5;150;124;5;5	ENSP00000279068:G124V;ENSP00000253001:G124V;ENSP00000383172:G150V;ENSP00000355209:G5V	ENSP00000253001:G124V	G	+	2	0	LSM14B	60134834	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.233000	0.58651	1.268000	0.44264	0.511000	0.50034	GGC		0.627	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		8	33	1	0	0.00307968	1	0.00337298	8	33					T	60701439	G	T	60701439	3	4	177	1	0	0	0	0	1	0	0	0	9055	1203	42	5	381	5	LSM14B	20	60701439	Missense_Mutation	SNP	G	TCGA-WB-A821-01A-11D-A35I-08	119736	60701439	2324081	33	3171										
MYH9	4627	broad.mit.edu	37	chr22	36690155	36690155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	cacctgcagcttggtgacctTgtcggccagctctgtgcgca	12	14	1	1			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chr22:36690155T>C	ENST00000216181.5	-	28	4050	c.3820A>G	c.(3820-3822)Aag>Gag	p.K1274E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1274					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGGTGACCTTGTCGGCCAGC	0.657			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(3820-3822)Aag>Gag		myosin, heavy chain 9, non-muscle							67	64	65					22																	36690155		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36690155T>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3820A>G	22.37:g.36690155T>C	ENSP00000216181:p.Lys1274Glu						p.K1274E	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			28	4050	-			1274					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3820A>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987273	0.74589	.	.	ENSG00000100345	ENST00000216181	T	0.79247	-1.25	4.98	4.98	0.66077	Myosin tail (1);	0.102350	0.64402	D	0.000004	D	0.83464	0.5260	M	0.73962	2.25	0.80722	D	1	B	0.20780	0.048	B	0.41088	0.347	D	0.83669	0.0165	10	0.87932	D	0	.	14.978	0.71289	0.0:0.0:0.0:1.0	.	1274	P35579	MYH9_HUMAN	E	1274	ENSP00000216181:K1274E	ENSP00000216181:K1274E	K	-	1	0	MYH9	35020101	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.948000	0.63590	1.988000	0.58038	0.459000	0.35465	AAG		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		17	29	0	0	0	1	0	17	29					C	36690155	T	C	36690155	3	2	177	1	0	0	0	0	1	0	0	0	10042	1821	63	4	2118	4	MYH9	22	36690155	Missense_Mutation	SNP	T	TCGA-WB-A821-01A-11D-A35I-08		36690155	14614411	34	3172										
TAB3	257397	broad.mit.edu	37	chrX	30873680	30873680	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	gcttcaagattgttgttattCtaggggagaaaaatggtaaa	11	3	2	2			TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chrX:30873680C>A	ENST00000378933.1	-	3	280		c.e3-1		TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378930.3_Splice_Site|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Splice_Site	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|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)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTTGTTATTCTAGGGGAGAA	0.383																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.e3-1		TGF-beta activated kinase 1/MAP3K7 binding protein 3							26	26	26					X																	30873680		2174	4277	6451	SO:0001630	splice_region_variant	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873680C>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.103-1G>T	X.37:g.30873680C>A						TAB3_ENST00000378930.3_Splice_Site|TAB3_ENST00000288422.2_Splice_Site|TAB3_ENST00000378932.2_Splice_Site		NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	280	-								A6NDD9|Q6VQR0	Splice_Site	SNP	ENST00000378933.1	37		CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044097	0.55110	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5384	0.91019	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAB3	30783601	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.445000	0.80570	2.407000	0.81776	0.600000	0.82982	.		0.383	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	Intron	3	32	1	0	1	1	1	3	32					A	30873680	C	A	30873680	5	1	177	1	0	0	0	0	0	0	1	0	15494	927	32	5	2060	5	TAB3	23	30873680	Splice_Site	SNP	C	TCGA-WB-A821-01A-11D-A35I-08		30873680	124396880	35	3173										
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													0.0277777777777778	1	1	0.523308270676692	3.66315789473684	0	1	1	0	ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-WB-A821-01A-11D-A35I-08	TCGA-WB-A821-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2afcaca7-8917-4586-b338-88e7a6b2547e	8228ec6a-dd1e-4729-9e22-07800658097b	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		7	38						7	38	---	---	---	---	-	72433666	TCC	-	72433664	7	5	177	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-WB-A821-01A-11D-A35I-08	41559984	72433664	82836896	36	3174										
PXDN	7837	broad.mit.edu	37	chr2	1652159	1652159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tccgtgttcagcagctgcgaGggcacacgcattttccccgc	11	15	1	0			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr2:1652159G>A	ENST00000252804.4	-	17	3443	c.3393C>T	c.(3391-3393)ccC>ccT	p.P1131P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1131					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGCTGCGAGGGCACACGCA	0.627																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(3391-3393)ccC>ccT		peroxidasin homolog (Drosophila)							42	51	48					2																	1652159		2060	4214	6274	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652159G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3393C>T	2.37:g.1652159G>A							p.P1131P	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3443	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1131					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3393C>T	CCDS46221.1																																																																																				0.627	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		14	22	0	0	0	1	0	14	22					A	1652159	G	A	1652159	2	1	178	1	0	0	0	0	0	0	0	1	12847	987	35	3		3	PXDN	2	1652159	Silent	SNP	G	TCGA-WB-A822-01A-11D-A35I-08		1652159	241547214	1	3175										
SGEF	26084	broad.mit.edu	37	chr3	153839931	153839931	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	aacgggttactaattacggaTttcccggtggaggacggagg							TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr3:153839931delT	ENST00000356448.4	+	2	434	c.150delT	c.(148-150)gatfs	p.D50fs	ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.D50fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.D50fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	50					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TAATTACGGATTTCCCGGTGG	0.662																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(148-150)gafs		Rho guanine nucleotide exchange factor (GEF) 26							16	18	17					3																	153839931		1903	4126	6029	SO:0001589	frameshift_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153839931delT	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.150delT	3.37:g.153839931delT	ENSP00000348828:p.Asp50fs					ARHGEF26_ENST00000465817.1_Frame_Shift_Del_p.D50fs|ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.D50fs	p.D50fs	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN			2	434	+			50					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Frame_Shift_Del	DEL	ENST00000356448.4	37	c.150delT	CCDS46938.1																																																																																				0.662	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		2	4						2	4	---	---	---	---	-	153839931	T	-	153839931	7	5	178	1	0	1	0	1	0	0	0	0	14205	1490	52	0	152	0	SGEF	3	153839931	Frame_Shift_Del	DEL	T	TCGA-WB-A822-01A-11D-A35I-08		153839931	44182499	2	3176										
ANO5	203859	broad.mit.edu	37	chr11	22296294	22296294	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgagacttcatcacttgcagGtgatttgtttgtttgtttgt	10	6	2	2			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr11:22296294G>C	ENST00000324559.8	+	20	2731		c.e20+1		ANO5_ENST00000532043.1_Splice_Site	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACTTGCAGGTGATTTGTTT	0.343																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e20+1		anoctamin 5							76	64	68					11																	22296294		2202	4299	6501	SO:0001630	splice_region_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296294G>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2414+1G>C	11.37:g.22296294G>C						ANO5_ENST00000532043.1_Splice_Site		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			20	2731	+									Splice_Site	SNP	ENST00000324559.8	37		CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400348	0.62177	.	.	ENSG00000171714	ENST00000324559	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8516	0.92232	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO5	22252870	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	8.148000	0.89630	2.614000	0.88457	0.555000	0.69702	.		0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	Intron	3	43	0	0	0	1	0	3	43					C	22296294	G	C	22296294	5	2	178	1	0	0	0	0	0	0	1	0	700	1275	44	5	2493	5	ANO5	11	22296294	Splice_Site	SNP	G	TCGA-WB-A822-01A-11D-A35I-08		22296294	112710222	3	3177										
SLCO1C1	53919	broad.mit.edu	37	chr12	20868177	20868177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agcctttgggcattgcctacCtggatgattttgccagtgaa	11	9	0	2			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr12:20868177C>T	ENST00000266509.2	+	6	1002	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	SLCO1C1_ENST00000545604.1_Silent_p.L212L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.L94L|SLCO1C1_ENST00000381552.1_Silent_p.L212L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	212					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CATTGCCTACCTGGATGATTT	0.428																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(634-636)Ctg>Ttg		solute carrier organic anion transporter family, member 1C1							174	158	163					12																	20868177		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20868177C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.634C>T	12.37:g.20868177C>T						SLCO1C1_ENST00000545604.1_Silent_p.L212L|SLCO1C1_ENST00000266509.2_Silent_p.L212L|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Silent_p.L94L	p.L212L			Q9NYB5	SO1C1_HUMAN			6	1002	+	Esophageal squamous(101;0.149)		212					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.634C>T	CCDS8683.1																																																																																				0.428	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	76	0	0	0	1	0	4	76					T	20868177	C	T	20868177	2	4	178	1	0	0	0	0	0	0	0	1	14725	680	24	3		3	SLCO1C1	12	20868177	Silent	SNP	C	TCGA-WB-A822-01A-11D-A35I-08		20868177	112983718	4	3178										
KCNH3	23416	broad.mit.edu	37	chr12	49937738	49937740	+	In_Frame_Del	DEL	GGG	GGG	-													0	0	1	0	0	0	1	1	0	accacattcgtgtccaagtcGggccaggtggtgtttgcccc							TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr12:49937738_49937740delGGG	ENST00000257981.6	+	6	1124_1126	c.864_866delGGG	c.(862-867)tcgggc>tcc	p.G289del		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	289					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTCCAAGTCGGGCCAGGTGGTG	0.596																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(862-867)tcc>tc		potassium voltage-gated channel, subfamily H (eag-related), member 3																																				SO:0001651	inframe_deletion	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49937738_49937740delGGG	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.864_866delGGG	12.37:g.49937738_49937740delGGG	ENSP00000257981:p.Gly289del						p.SG288del	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			6	1124_1126	+			288					Q9UQ06	In_Frame_Del	DEL	ENST00000257981.6	37	c.864_866delGGG	CCDS8786.1																																																																																				0.596	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		11	56						11	56	---	---	---	---	-	49937740	GGG	-	49937738	7	5	178	1	0	1	0	1	0	0	0	0	8033	1103	39	0	886	0	KCNH3	12	49937738	In_Frame_Del	DEL	GGG	TCGA-WB-A822-01A-11D-A35I-08	29069561	49937738	83914157	5	3179										
KIAA1409	57578	broad.mit.edu	37	chr14	94067098	94067098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	tacatttggattgtaacaagGaatttccttttcctacaagt	6	7	0	0			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr14:94067098G>A	ENST00000393151.2	+	25	3556	c.3556G>A	c.(3556-3558)Gaa>Aaa	p.E1186K	UNC79_ENST00000256339.4_Missense_Mutation_p.E1009K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1186K|UNC79_ENST00000553484.1_Missense_Mutation_p.E1186K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1186					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGTAACAAGGAATTTCCTTT	0.413																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3556-3558)Gaa>Aaa		unc-79 homolog (C. elegans)							90	87	88					14																	94067098		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94067098G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3556G>A	14.37:g.94067098G>A	ENSP00000376858:p.Glu1186Lys					UNC79_ENST00000393151.2_Missense_Mutation_p.E1186K|UNC79_ENST00000555664.1_Missense_Mutation_p.E1186K|UNC79_ENST00000256339.4_Missense_Mutation_p.E1009K	p.E1186K			Q9P2D8	UNC79_HUMAN			25	3710	+			1186					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3556G>A		.	.	.	.	.	.	.	.	.	.	G	27.7	4.855984	0.91355	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19532	2.15;2.15;2.14;2.15	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.29908	0.895	0.58432	D	0.999991	D	0.61697	0.99	D	0.72982	0.979	T	0.06917	-1.0800	10	0.72032	D	0.01	-19.3861	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1186	C9JQL1	.	K	1009;1186;1186;1186;1186	ENSP00000256339:E1009K;ENSP00000450868:E1186K;ENSP00000451360:E1186K;ENSP00000376858:E1186K	ENSP00000256339:E1009K	E	+	1	0	KIAA1409	93136851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.413	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	56	0	0	0	1	0	4	56					A	94067098	G	A	94067098	3	1	178	1	0	0	0	0	1	0	0	0	8230	1175	41	3	3111	3	KIAA1409	14	94067098	Missense_Mutation	SNP	G	TCGA-WB-A822-01A-11D-A35I-08		94067098	13282442	6	3180										
GOLGA6D	653643	broad.mit.edu	37	chr15	75585440	75585442	+	In_Frame_Del	DEL	GAG	GAG	-													0	0	1	0	0	0	1	1	0	gaggacaacatctggacagtGaggaggaggaggcgcctcgg							TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr15:75585440_75585442delGAG	ENST00000434739.3	+	14	1569_1571	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	513						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						TCTGGACAGTGAGGAGGAGGAGG	0.631																																						ENST00000434739.3																			0				kidney(1)|lung(1)	2						c.(1528-1530)del		golgin A6 family, member D				1,359		0,1,179						-3.1	0			1	6,966		1,4,481	no	coding	GOLGA6D	NM_001145224.1		1,5,660	A1A1,A1R,RR		0.6173,0.2778,0.5255				7,1325				SO:0001651	inframe_deletion	653643							g.chr15:75585440_75585442delGAG		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6D"				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1528_1530delGAG	15.37:g.75585449_75585451delGAG	ENSP00000391085:p.Glu513del						p.E513del	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN			14	1569_1571	+			513						In_Frame_Del	DEL	ENST00000434739.3	37	c.1528_1530delGAG	CCDS45308.1																																																																																				0.631	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		2	4						2	4	---	---	---	---	-	75585442	GAG	-	75585440	7	5	178	1	0	1	0	1	0	0	0	0	6560	1291	45	0	1582	0	GOLGA6D	15	75585440	In_Frame_Del	DEL	GAG	TCGA-WB-A822-01A-11D-A35I-08		75585440	26945952	7	3181										
LIG1	3978	broad.mit.edu	37	chr19	48639327	48639327	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	gaggctcactgcctgggagaGggcagccagcaccgactgct							TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr19:48639327delG	ENST00000263274.7	-	15	1806	c.1387delC	c.(1387-1389)ctcfs	p.L463fs	LIG1_ENST00000427526.2_Frame_Shift_Del_p.L432fs|LIG1_ENST00000536218.1_Frame_Shift_Del_p.L395fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	463					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCCTGGGAGAGGGCAGCCAGC	0.692								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(1387-1389)tcfs	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						12	15	14					19																	48639327		2182	4271	6453	SO:0001589	frameshift_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48639327delG		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1387delC	19.37:g.48639327delG	ENSP00000263274:p.Leu463fs					LIG1_ENST00000427526.2_Frame_Shift_Del_p.L432fs|LIG1_ENST00000536218.1_Frame_Shift_Del_p.L395fs	p.L463fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	15	1806	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	463					B2RAI8|Q2TB12|Q32P23	Frame_Shift_Del	DEL	ENST00000263274.7	37	c.1387delC	CCDS12711.1																																																																																				0.692	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		2	4						2	4	---	---	---	---	-	48639327	G	-	48639327	7	5	178	1	0	1	0	1	0	0	0	0	8781	1000	35	0	1428	0	LIG1	19	48639327	Frame_Shift_Del	DEL	G	TCGA-WB-A822-01A-11D-A35I-08		48639327	10489656	8	3182										
KLK13	26085	broad.mit.edu	37	chr19	51563781	51563781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttgcactagtagggcagcctGccagggctgagagtggggga	18	8	0	1			TCGA-WB-A822-01A-11D-A35I-08	TCGA-WB-A822-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af00a03-2099-4f52-ac2d-c6b82868f847	866f46fc-d2fe-4bd8-a62f-a46016f1fb9c	g.chr19:51563781G>A	ENST00000595793.1	-	2	190	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	50	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		AGGGCAGCCTGCCAGGGCTGA	0.597																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(148-150)Cag>Tag		kallikrein-related peptidase 13							84	87	86					19																	51563781		2203	4300	6503	SO:0001587	stop_gained	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563781G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.148C>T	19.37:g.51563781G>A	ENSP00000470555:p.Gln50*					KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q50*|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Nonsense_Mutation_p.Q50*	p.Q50*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	2	190	-		all_neural(266;0.026)	50			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Nonsense_Mutation	SNP	ENST00000595793.1	37	c.148C>T	CCDS12822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.201413|5.201413	0.94997|0.94997	.|.	.|.	ENSG00000167759|ENSG00000167759	ENST00000376799|ENST00000156476	.|.	.|.	.|.	3.88|3.88	3.88|3.88	0.44766|0.44766	.|.	.|0.000000	.|0.44902	.|D	.|0.000402	T|.	0.73016|.	0.3533|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77536|.	-0.2551|.	5|.	0.87932|0.87932	D|D	0|0	.|.	13.6889|13.6889	0.62533|0.62533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	51|50	.|.	ENSP00000365995:A51V|ENSP00000156476:Q50X	A|Q	-|-	2|1	0|0	KLK13|KLK13	56255593|56255593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.063000|7.063000	0.76714|0.76714	2.166000|2.166000	0.68216|0.68216	0.609000|0.609000	0.83330|0.83330	GCA|CAG		0.597	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		4	57	0	0	0	1	0	4	57					A	51563781	G	A	51563781	4	1	178	1	0	0	0	0	0	1	0	0	8401	1328	46	3	701	3	KLK13	19	51563781	Nonsense_Mutation	SNP	G	TCGA-WB-A822-01A-11D-A35I-08	2924454	51563781	7565202	9	3183										
FCRL3	115352	broad.mit.edu	37	chr1	157665168	157665168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgctgggcccccaggccattGtctgcatcacaggagtagtt	12	12	2	0			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr1:157665168G>T	ENST00000368184.3	-	8	1653	c.1362C>A	c.(1360-1362)gaC>gaA	p.D454E	FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	454	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCAGGCCATTGTCTGCATCAC	0.532																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1360-1362)gaC>gaA		Fc receptor-like 3							159	156	157					1																	157665168		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665168G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1362C>A	1.37:g.157665168G>T	ENSP00000357167:p.Asp454Glu					FCRL3_ENST00000368186.5_Missense_Mutation_p.D454E|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.D454E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			8	1653	-	all_hematologic(112;0.0378)		454			Ig-like C2-type 5.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1362C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090523	0.55968	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03181	4.02;4.02	5.17	0.743	0.18347	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.423027	0.19998	N	0.101410	T	0.03220	0.0094	L	0.52011	1.625	0.21445	N	0.999688	D;B;D	0.58970	0.972;0.217;0.984	D;P;P	0.64144	0.922;0.573;0.891	T	0.37619	-0.9698	10	0.46703	T	0.11	.	3.6141	0.08071	0.0896:0.3109:0.4397:0.1597	.	454;359;454	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	454	ENSP00000357169:D454E;ENSP00000357167:D454E	ENSP00000292392:D454E	D	-	3	2	FCRL3	155931792	0.513000	0.26194	0.901000	0.35422	0.435000	0.31806	0.026000	0.13599	0.151000	0.19162	-0.244000	0.11960	GAC		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		5	84	1	0	0.184627	1	0.184627	5	84					T	157665168	G	T	157665168	3	4	179	1	0	0	0	0	1	0	0	0	5796	1368	48	5	874	5	FCRL3	1	157665168	Missense_Mutation	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		157665168	91585453	1	3184										
FCRL6	343413	broad.mit.edu	37	chr1	159778167	159778167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cgtggccagtacagctgctcTgggcaggtgatgtatattcc	13	10	1	1			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr1:159778167T>C	ENST00000368106.3	+	3	253	c.252T>C	c.(250-252)tcT>tcC	p.S84S	FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S|FCRL6_ENST00000321935.6_Silent_p.S91S	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	84	Ig-like C2-type 1.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ACAGCTGCTCTGGGCAGGTGA	0.498																																						ENST00000321935.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(271-273)tcT>tcC		Fc receptor-like 6							53	46	48					1																	159778167		2203	4300	6503	SO:0001819	synonymous_variant	343413					integral to membrane		g.chr1:159778167T>C	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.252T>C	1.37:g.159778167T>C						FCRL6_ENST00000392235.3_Silent_p.S84S|FCRL6_ENST00000368106.3_Silent_p.S84S|FCRL6_ENST00000339348.5_Silent_p.S84S	p.S91S			Q6DN72	FCRL6_HUMAN			4	359	+	all_hematologic(112;0.0597)		84			Ig-like C2-type 1.		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	c.273T>C	CCDS30912.1																																																																																				0.498	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		9	34	0	0	0	1	0	9	34					C	159778167	T	C	159778167	2	2	179	1	0	0	0	0	0	0	0	1	5799	1567	55	4		4	FCRL6	1	159778167	Silent	SNP	T	TCGA-XG-A823-01A-11D-A35I-08	2112999	159778167	89472454	2	3185										
TIPARP	25976	broad.mit.edu	37	chr3	156421292	156421292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaattatctgcccagatgggGtcacttcagcaaacttttac	7	10	3	1			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr3:156421292G>A	ENST00000461166.1	+	5	1915	c.1327G>A	c.(1327-1329)Gtc>Atc	p.V443I	TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	443					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCCAGATGGGGTCACTTCAGC	0.448																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1327-1329)Gtc>Atc		TCDD-inducible poly(ADP-ribose) polymerase							93	93	93					3																	156421292		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156421292G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"Poly (ADP-ribose) polymerases"	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1327G>A	3.37:g.156421292G>A	ENSP00000420612:p.Val443Ile					TIPARP_ENST00000486483.1_Missense_Mutation_p.V443I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V443I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V443I	p.V443I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		5	1915	+			443					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1327G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.302809|2.302809	0.40795|0.40795	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T|T;T;T;T;T;T	0.13901|0.23950	2.55|2.9;2.9;2.9;1.88;2.9;2.9	5.35|5.35	4.48|4.48	0.54585|0.54585	.|.	.|0.183659	.|0.48767	.|D	.|0.000174	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.16478|0.16478	0.41|0.41	0.35916|0.35916	D|D	0.831477|0.831477	.|B	.|0.18863	.|0.031	.|B	.|0.10450	.|0.005	T|T	0.13019|0.13019	-1.0525|-1.0525	7|10	0.12430|0.31617	T|T	0.62|0.26	.|.	9.968|9.968	0.41736|0.41736	0.1565:0.0:0.8435:0.0|0.1565:0.0:0.8435:0.0	.|.	.|443	.|Q7Z3E1	.|PARPT_HUMAN	D|I	145|443	ENSP00000420141:G145D|ENSP00000418757:V443I;ENSP00000295924:V443I;ENSP00000420612:V443I;ENSP00000419982:V443I;ENSP00000418829:V443I;ENSP00000438345:V443I	ENSP00000420141:G145D|ENSP00000295924:V443I	G|V	+|+	2|1	0|0	TIPARP|TIPARP	157903986|157903986	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.796000|2.796000	0.47869|0.47869	1.259000|1.259000	0.44117|0.44117	0.585000|0.585000	0.79938|0.79938	GGT|GTC		0.448	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		3	39	0	0	0	1	0	3	39					A	156421292	G	A	156421292	3	1	179	1	0	0	0	0	1	0	0	0	15921	1261	44	3	1341	3	TIPARP	3	156421292	Missense_Mutation	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		156421292	41601138	3	3186										
SESN1	27244	broad.mit.edu	37	chr6	109315808	109315808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	caacctcaaagaaagaatcaCttacctgaagaaaaaataca	4	9	2	4	rs200255805		TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr6:109315808C>G	ENST00000356644.7	-	6	894	c.800G>C	c.(799-801)aGt>aCt	p.S267T	SESN1_ENST00000302071.2_Missense_Mutation_p.S201T|SESN1_ENST00000436639.2_Missense_Mutation_p.S326T	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	267					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GAAAGAATCACTTACCTGAAG	0.343																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(976-978)aGt>aCt		sestrin 1							72	59	64					6																	109315808		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109315808C>G	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.800G>C	6.37:g.109315808C>G	ENSP00000349061:p.Ser267Thr					SESN1_ENST00000356644.7_Missense_Mutation_p.S267T|SESN1_ENST00000302071.2_Missense_Mutation_p.S201T	p.S326T	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	6	1722	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	267					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.977G>C	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	8.811	0.935203	0.18206	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.24723	1.84;1.84;1.84	5.7	3.76	0.43208	.	0.062440	0.64402	D	0.000003	T	0.04634	0.0126	N	0.03948	-0.315	0.38353	D	0.944395	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22765	-1.0207	10	0.13470	T	0.59	-42.5471	14.7894	0.69827	0.0:0.6543:0.3457:0.0	.	326;267	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	T	326;201;267	ENSP00000393762:S326T;ENSP00000306734:S201T;ENSP00000349061:S267T	ENSP00000306734:S201T	S	-	2	0	SESN1	109422501	0.995000	0.38212	1.000000	0.80357	0.856000	0.48823	1.583000	0.36579	2.675000	0.91044	0.591000	0.81541	AGT		0.343	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		4	22	0	0	0	1	0	4	22					G	109315808	C	G	109315808	3	3	179	1	0	0	0	0	1	0	0	0	14124	565	20	5	698	5	SESN1	6	109315808	Missense_Mutation	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		109315808	61799259	4	3187										
TYW1	55253	broad.mit.edu	37	chr7	66479502	66479502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cctgaagggtatgagatatgCggtatttggcctgggaaatt	14	5	0	2			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr7:66479502C>T	ENST00000359626.5	+	5	688	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	175	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATGAGATATGCGGTATTTGGC	0.423																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(523-525)gCg>gTg		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							216	194	201					7																	66479502		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479502C>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.524C>T	7.37:g.66479502C>T	ENSP00000352645:p.Ala175Val						p.A175V	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	688	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	175			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.524C>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287305	0.80803	.	.	ENSG00000198874	ENST00000359626	T	0.78595	-1.19	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	U	0.000000	D	0.87585	0.6214	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.89163	0.3531	10	0.72032	D	0.01	.	15.7606	0.78076	0.0:1.0:0.0:0.0	.	175	Q9NV66	TYW1_HUMAN	V	175	ENSP00000352645:A175V	ENSP00000352645:A175V	A	+	2	0	TYW1	66116937	1.000000	0.71417	0.384000	0.26145	0.631000	0.37964	7.034000	0.76511	2.394000	0.81467	0.456000	0.33151	GCG		0.423	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	144	0	0	0	1	0	4	144					T	66479502	C	T	66479502	3	4	179	1	0	0	0	0	1	0	0	0	16815	768	27	1	542	1	TYW1	7	66479502	Missense_Mutation	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		66479502	92659161	5	3188										
CDC42BPG	55561	broad.mit.edu	37	chr11	64594255	64594255	+	Frame_Shift_Del	DEL	C	C	-													0	0	1	0	0	0	1	1	0	ccgcgggcaactcggcccttCtcttcgggagcctgttgggt							TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr11:64594255delC	ENST00000342711.5	-	35	4400	c.4401delG	c.(4399-4401)gagfs	p.E1467fs		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTCGGCCCTTCTCTTCGGGAG	0.672																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4399-4401)gafs		CDC42 binding protein kinase gamma (DMPK-like)							9	12	11					11																	64594255		2168	4250	6418	SO:0001589	frameshift_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594255delC	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4401delG	11.37:g.64594255delC	ENSP00000345133:p.Glu1467fs						p.E1467fs	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			35	4400	-			1467						Frame_Shift_Del	DEL	ENST00000342711.5	37	c.4401delG	CCDS31601.1																																																																																				0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		2	4						2	4	---	---	---	---	-	64594255	C	-	64594255	7	5	179	1	0	1	0	1	0	0	0	0	3074	912	32	0	266	0	CDC42BPG	11	64594255	Frame_Shift_Del	DEL	C	TCGA-XG-A823-01A-11D-A35I-08		64594255	70412261	6	3189										
MLL2	8085	broad.mit.edu	37	chr12	49418672	49418672	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatactcagggaagagtcgcAgcatgtcagcctcttttctc	10	11	4	1			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr12:49418672A>C	ENST00000301067.7	-	49	15841	c.15842T>G	c.(15841-15843)cTg>cGg	p.L5281R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5281	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAAGAGTCGCAGCATGTCAGC	0.557																																						ENST00000301067.7																			0											c.(15841-15843)cTg>cGg		lysine (K)-specific methyltransferase 2D							20	22	21					12																	49418672		2064	4191	6255	SO:0001583	missense	8085							g.chr12:49418672A>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15842T>G	12.37:g.49418672A>C	ENSP00000301067:p.Leu5281Arg						p.L5281R	NM_003482.3	NP_003473.3					49	15841	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15842T>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833490	0.50951	.	.	ENSG00000167548	ENST00000301067	T	0.46819	0.86	5.38	5.38	0.77491	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.28482	N	0.015197	T	0.68604	0.3019	M	0.75085	2.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72721	-0.4208	10	0.87932	D	0	.	14.6879	0.69062	1.0:0.0:0.0:0.0	.	5281	O14686	MLL2_HUMAN	R	5281	ENSP00000301067:L5281R	ENSP00000301067:L5281R	L	-	2	0	MLL2	47704939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.178000	0.69098	0.533000	0.62120	CTG		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	12	0	0	0	1	0	3	12					C	49418672	A	C	49418672	3	2	179	1	0	0	0	0	1	0	0	0	9621	188	7	5	795	5	MLL2	12	49418672	Missense_Mutation	SNP	A	TCGA-XG-A823-01A-11D-A35I-08		49418672	84433223	7	3190										
OR6C6	283365	broad.mit.edu	37	chr12	55688981	55688981	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	1	1	0	gggtcatctgtcaatcctagGagaatgaactctatttccat	8	9	4	2			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr12:55688981G>C	ENST00000358433.2	-	1	35	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCAATCCTAGGAGAATGAACT	0.333																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(34-36)ctC>ctG		olfactory receptor, family 6, subfamily C, member 6							102	101	101					12																	55688981		2203	4300	6503	SO:0001819	synonymous_variant	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688981G>C		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.36C>G	12.37:g.55688981G>C							p.L12L	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	35	-			12						Silent	SNP	ENST00000358433.2	37	c.36C>G	CCDS31817.1																																																																																				0.333	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			6	29	0	0	0	1	0	6	29					C	55688981	G	C	55688981	2	2	179	1	0	0	0	0	0	0	0	1	11194	1161	41	5		5	OR6C6	12	55688981	Silent	SNP	G	TCGA-XG-A823-01A-11D-A35I-08	6270309	55688981	78162914	8	3191										
FANCM	57697	broad.mit.edu	37	chr14	45650703	45650703	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agaaaagttaaaagagcaaaAggaaatgttttaaactctcc	7	5	1	2			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr14:45650703A>G	ENST00000267430.5	+	15	4378	c.4293A>G	c.(4291-4293)aaA>aaG	p.K1431K	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Silent_p.K1405K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1431					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAGCAAAAGGAAATGTTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(4291-4293)aaA>aaG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							67	75	72					14																	45650703		2203	4297	6500	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45650703A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4293A>G	14.37:g.45650703A>G						FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Silent_p.K1405K	p.K1431K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			15	4378	+			1431					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.4293A>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	6.098	0.386372	0.11524	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.25	2.89	0.33648	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	.	6.1133	0.20112	0.7219:0.0:0.2781:0.0	.	.	.	.	G	364	.	.	R	+	1	2	FANCM	44720453	0.988000	0.35896	0.941000	0.38009	0.644000	0.38419	2.478000	0.45189	0.941000	0.37499	0.383000	0.25322	AGG		0.308	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	40	0	0	0	1	0	13	40					G	45650703	A	G	45650703	2	3	179	1	0	0	0	0	0	0	0	1	5671	69	3	4		4	FANCM	14	45650703	Silent	SNP	A	TCGA-XG-A823-01A-11D-A35I-08		45650703	61698837	9	3192										
KIAA1267	284058	broad.mit.edu	37	chr17	44248901	44248901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agagtgcaattggtcataccCcccttcaagtccccagattc	7	14	2	2			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr17:44248901C>T	ENST00000262419.6	-	2	1079	c.609G>A	c.(607-609)ggG>ggA	p.G203G	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Silent_p.G203G|KANSL1_ENST00000432791.1_Silent_p.G203G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.G203G|KANSL1_ENST00000575318.1_Silent_p.G203G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	203					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGTCATACCCCCCTTCAAGT	0.453																																						ENST00000262419.6																			0											c.(607-609)ggG>ggA		KAT8 regulatory NSL complex subunit 1							121	158	145					17																	44248901		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44248901C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.609G>A	17.37:g.44248901C>T						KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G203G|KANSL1_ENST00000574590.1_Silent_p.G203G|KANSL1_ENST00000572904.1_Silent_p.G203G|KANSL1_ENST00000432791.1_Silent_p.G203G	p.G203G	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	1079	-			203					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.609G>A	CCDS11503.1																																																																																				0.453	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		22	80	0	0	0	1	0	22	80					T	44248901	C	T	44248901	2	4	179	1	0	0	0	0	0	0	0	1	8219	610	22	3		3	KIAA1267	17	44248901	Silent	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		44248901	36946309	10	3193										
ANKFN1	162282	broad.mit.edu	37	chr17	54559863	54559863	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	cactcagggtttcttaacctCcctcttcagatgtttgaact	6	12	4	2			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr17:54559863C>T	ENST00000318698.2	+	17	2282	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ANKFN1_ENST00000566473.2_Silent_p.L749L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	749										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTCTTAACCTCCCTCTTCAGA	0.438																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2245-2247)ctC>ctT		ankyrin-repeat and fibronectin type III domain containing 1							173	164	167					17																	54559863		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54559863C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.2247C>T	17.37:g.54559863C>T						ANKFN1_ENST00000318698.2_Silent_p.L749L	p.L749L			Q8N957	ANKF1_HUMAN			17	2247	+			749						Silent	SNP	ENST00000318698.2	37	c.2247C>T	CCDS32686.1																																																																																				0.438	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		21	60	0	0	0	1	0	21	60					T	54559863	C	T	54559863	2	4	179	1	0	0	0	0	0	0	0	1	625	842	30	3		3	ANKFN1	17	54559863	Silent	SNP	C	TCGA-XG-A823-01A-11D-A35I-08	10310962	54559863	26635347	11	3194										
TTLL8	164714	broad.mit.edu	37	chr22	50483807	50483807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gatgctggatgccatggtgcGccggaagtcttctgaaagga	15	8	2	1	rs201774397	byFrequency	TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chr22:50483807G>A	ENST00000266182.6	-	6	519	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C|TTLL8_ENST00000477219.1_5'Flank			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	210					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCCATGGTGCGCCGGAAGTCT	0.657													G|||	2	0.000399361	0	0	5008	,	,		13850	0		0.002	False		,,,				2504	0					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(520-522)Cgc>Tgc		tubulin tyrosine ligase-like family, member 8			CYS/ARG	1,4349		0,1,2174	49	55	53		610	2.9	1	22		53	14,8524		0,14,4255	no	missense	TTLL8	XM_003403494.1	180	0,15,6429	AA,AG,GG		0.164,0.023,0.1164	probably-damaging	204/841	50483807	15,12873	2175	4269	6444	SO:0001583	missense	164714							g.chr22:50483807G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.520C>T	22.37:g.50483807G>A	ENSP00000266182:p.Arg174Cys					TTLL8_ENST00000440475.1_Missense_Mutation_p.R174C	p.R174C						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	6	519	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.520C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	14.48	2.546934	0.45383	2.3E-4	0.00164	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04809	3.55;3.67;3.67	5.14	2.91	0.33838	.	0.390084	0.20935	N	0.083040	T	0.08891	0.0220	M	0.66939	2.045	0.34867	D	0.743175	D	0.76494	0.999	P	0.51806	0.68	T	0.24548	-1.0157	10	0.39692	T	0.17	.	3.51	0.07704	0.0935:0.1661:0.5692:0.1713	.	174	B5MDV0	.	C	174;174;210	ENSP00000266182:R174C;ENSP00000387509:R174C;ENSP00000392252:R210C	ENSP00000266182:R174C	R	-	1	0	TTLL8	48825934	0.997000	0.39634	0.998000	0.56505	0.312000	0.27988	1.428000	0.34892	1.163000	0.42636	0.394000	0.25966	CGC		0.657	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		3	25	0	0	0	1	0	3	25					A	50483807	G	A	50483807	3	1	179	1	0	0	0	0	1	0	0	0	16730	1087	38	1	2019	1	TTLL8	22	50483807	Missense_Mutation	SNP	G	TCGA-XG-A823-01A-11D-A35I-08		50483807	820759	12	3195										
ENOX2	10495	broad.mit.edu	37	chrX	129759353	129759353	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ttccaggctggctccaactcCagtcatttcctgcttgaagg	9	13	1	1			TCGA-XG-A823-01A-11D-A35I-08	TCGA-XG-A823-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc26cf35-440d-4367-b876-3284a7b2c268	192ad1c4-a0ee-4beb-9edf-86085f1b1356	g.chrX:129759353C>G	ENST00000370927.1	-	13	1789	c.1768G>C	c.(1768-1770)Gga>Cga	p.G590R	ENOX2_ENST00000370935.1_Missense_Mutation_p.G561R|ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R|ENOX2_ENST00000338144.3_Missense_Mutation_p.G590R			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	590					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTCCAACTCCAGTCATTTCC	0.483																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1768-1770)Gga>Cga		ecto-NOX disulfide-thiol exchanger 2							116	89	98					X																	129759353		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759353C>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1768G>C	X.37:g.129759353C>G	ENSP00000359965:p.Gly590Arg					ENOX2_ENST00000394363.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370935.1_Missense_Mutation_p.G561R|ENOX2_ENST00000370927.1_Missense_Mutation_p.G590R	p.G590R	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			16	2185	-			590					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1768G>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122623	0.77436	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.72118	2.19	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79145	-0.1924	9	0.87932	D	0	-16.7752	12.5197	0.56052	0.0:1.0:0.0:0.0	.	590;618	Q16206;A4QPE1	ENOX2_HUMAN;.	R	561;590;561;618;590	.	ENSP00000337146:G590R	G	-	1	0	ENOX2	129587034	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	6.779000	0.75057	2.447000	0.82792	0.538000	0.68166	GGA		0.483	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	65	0	0	0	1	0	4	65					G	129759353	C	G	129759353	3	3	179	1	0	0	0	0	1	0	0	0	5127	603	21	5	68	5	ENOX2	23	129759353	Missense_Mutation	SNP	C	TCGA-XG-A823-01A-11D-A35I-08		129759353	25511207	13	3196										
